Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38528617G>A | CA405649713 | RYR1 | c.10895G>A (n.10895G>A) c.10956G>A (p.Met3652Ile) c.10941G>A (p.Met3647Ile) c.10938G>A (p.Met3646Ile) c.4343G>A c.1763G>A c.237G>A (p.Met79Ile) c.10953G>A (p.Met3651Ile) | dbSNP gnomAD v4 |
19 | g.38528617G>C | CA080099 | RYR1 | c.10895G>C (n.10895G>C) c.10956G>C (p.Met3652Ile) c.10941G>C (p.Met3647Ile) c.10938G>C (p.Met3646Ile) c.4343G>C c.1763G>C c.237G>C (p.Met79Ile) c.10953G>C (p.Met3651Ile) | |
19 | g.38528617G= | CA2335067459 | RYR1 | c.10895G= (n.10895G=) c.10956G= (p.Met3652=) c.10941G= (p.Met3647=) c.10938G= (p.Met3646=) c.4343G= c.1763G= c.237G= (p.Met79=) c.10953G= (p.Met3651=) | |
19 | g.38528617G>T | CA405649714 | RYR1 | c.10895G>T (n.10895G>T) c.10956G>T (p.Met3652Ile) c.10941G>T (p.Met3647Ile) c.10938G>T (p.Met3646Ile) c.4343G>T c.1763G>T c.237G>T (p.Met79Ile) c.10953G>T (p.Met3651Ile) | |
19 | g.38528618T>A | CA405649715 | RYR1 | c.10896T>A (n.10896T>A) c.10957T>A (p.Phe3653Ile) c.10942T>A (p.Phe3648Ile) c.10939T>A (p.Phe3647Ile) c.4344T>A c.1764T>A c.238T>A (p.Phe80Ile) c.10954T>A (p.Phe3652Ile) | gnomAD v4 |
19 | g.38528618T>C | CA405649716 | RYR1 | c.10896T>C (n.10896T>C) c.10957T>C (p.Phe3653Leu) c.10942T>C (p.Phe3648Leu) c.10939T>C (p.Phe3647Leu) c.4344T>C c.1764T>C c.238T>C (p.Phe80Leu) c.10954T>C (p.Phe3652Leu) | |
19 | g.38528618T>G | CA405649717 | RYR1 | c.10896T>G (n.10896T>G) c.10957T>G (p.Phe3653Val) c.10942T>G (p.Phe3648Val) c.10939T>G (p.Phe3647Val) c.4344T>G c.1764T>G c.238T>G (p.Phe80Val) c.10954T>G (p.Phe3652Val) | |
19 | g.38528619T>A | CA405649718 | RYR1 | c.10897T>A (n.10897T>A) c.10958T>A (p.Phe3653Tyr) c.10943T>A (p.Phe3648Tyr) c.10940T>A (p.Phe3647Tyr) c.4345T>A c.1765T>A c.239T>A (p.Phe80Tyr) c.10955T>A (p.Phe3652Tyr) | ClinVar dbSNP |
19 | g.38528619T>C | CA405649719 | RYR1 | c.10897T>C (n.10897T>C) c.10958T>C (p.Phe3653Ser) c.10943T>C (p.Phe3648Ser) c.10940T>C (p.Phe3647Ser) c.4345T>C c.1765T>C c.239T>C (p.Phe80Ser) c.10955T>C (p.Phe3652Ser) | |
19 | g.38528619T>G | CA405649720 | RYR1 | c.10897T>G (n.10897T>G) c.10958T>G (p.Phe3653Cys) c.10943T>G (p.Phe3648Cys) c.10940T>G (p.Phe3647Cys) c.4345T>G c.1765T>G c.239T>G (p.Phe80Cys) c.10955T>G (p.Phe3652Cys) | |
19 | g.38528619_38528620delinsTC | CA2335067460 | RYR1 | c.10897_10898delinsTC (n.10897_10898delinsTC) c.10958_10959delinsTC (p.Phe3653=) c.10943_10944delinsTC (p.Phe3648=) c.10940_10941delinsTC (p.Phe3647=) c.4345_4346delinsTC c.1765_1766delinsTC c.239_240delinsTC (p.Phe80=) c.10955_10956delinsTC (p.Phe3652=) | |
19 | g.38528620C>A | CA405649721 | RYR1 | c.10898C>A (n.10898C>A) c.10959C>A (p.Phe3653Leu) c.10944C>A (p.Phe3648Leu) c.10941C>A (p.Phe3647Leu) c.4346C>A c.1766C>A c.240C>A (p.Phe80Leu) c.10956C>A (p.Phe3652Leu) | |
19 | g.38528620C= | CA2335067461 | RYR1 | c.10898C= (n.10898C=) c.10959C= (p.Phe3653=) c.10944C= (p.Phe3648=) c.10941C= (p.Phe3647=) c.4346C= c.1766C= c.240C= (p.Phe80=) c.10956C= (p.Phe3652=) | |
19 | g.38528620C>G | CA080127 | RYR1 | c.10898C>G (n.10898C>G) c.10959C>G (p.Phe3653Leu) c.10944C>G (p.Phe3648Leu) c.10941C>G (p.Phe3647Leu) c.4346C>G c.1766C>G c.240C>G (p.Phe80Leu) c.10956C>G (p.Phe3652Leu) | gnomAD v4 |
19 | g.38528620C>T | CA507354536 | RYR1 | c.10898C>T (n.10898C>T) c.10959C>T (p.Phe3653=) c.10944C>T (p.Phe3648=) c.10941C>T (p.Phe3647=) c.4346C>T c.1766C>T c.240C>T (p.Phe80=) c.10956C>T (p.Phe3652=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38528621del | CA916082466 | RYR1 | c.10899del (n.10899del) c.10960del (p.Leu3654TrpfsTer10) c.10945del (p.Leu3649TrpfsTer10) c.10942del (p.Leu3648TrpfsTer10) c.4347del c.1767del c.241del (p.Leu81TrpfsTer10) c.10957del (p.Leu3653TrpfsTer10) | ClinVar dbSNP |
19 | g.38528621C>A | CA405649723 | RYR1 | c.10899C>A (n.10899C>A) c.10960C>A (p.Leu3654Met) c.10945C>A (p.Leu3649Met) c.10942C>A (p.Leu3648Met) c.4347C>A c.1767C>A c.241C>A (p.Leu81Met) c.10957C>A (p.Leu3653Met) | |
19 | g.38528621C= | CA2335067462 | RYR1 | c.10899C= (n.10899C=) c.10960C= (p.Leu3654=) c.10945C= (p.Leu3649=) c.10942C= (p.Leu3648=) c.4347C= c.1767C= c.241C= (p.Leu81=) c.10957C= (p.Leu3653=) | |
19 | g.38528621C>G | CA405649722 | RYR1 | c.10899C>G (n.10899C>G) c.10960C>G (p.Leu3654Val) c.10945C>G (p.Leu3649Val) c.10942C>G (p.Leu3648Val) c.4347C>G c.1767C>G c.241C>G (p.Leu81Val) c.10957C>G (p.Leu3653Val) | |
19 | g.38528621C>T | CA507354537 | RYR1 | c.10899C>T (n.10899C>T) c.10960C>T (p.Leu3654=) c.10945C>T (p.Leu3649=) c.10942C>T (p.Leu3648=) c.4347C>T c.1767C>T c.241C>T (p.Leu81=) c.10957C>T (p.Leu3653=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38528622del | CA2697556579 | RYR1 | c.10900del (n.10900del) c.10961del (p.Leu3654ArgfsTer10) c.10946del (p.Leu3649ArgfsTer10) c.10943del (p.Leu3648ArgfsTer10) c.4348del c.1768del c.242del (p.Leu81ArgfsTer10) c.10958del (p.Leu3653ArgfsTer10) | ClinVar |
19 | g.38528622T>A | CA405649724 | RYR1 | c.10900T>A (n.10900T>A) c.10961T>A (p.Leu3654Gln) c.10946T>A (p.Leu3649Gln) c.10943T>A (p.Leu3648Gln) c.4348T>A c.1768T>A c.242T>A (p.Leu81Gln) c.10958T>A (p.Leu3653Gln) | |
19 | g.38528622T>C | CA405649725 | RYR1 | c.10900T>C (n.10900T>C) c.10961T>C (p.Leu3654Pro) c.10946T>C (p.Leu3649Pro) c.10943T>C (p.Leu3648Pro) c.4348T>C c.1768T>C c.242T>C (p.Leu81Pro) c.10958T>C (p.Leu3653Pro) | ClinVar dbSNP gnomAD v4 |
19 | g.38528622T>G | CA405649726 | RYR1 | c.10900T>G (n.10900T>G) c.10961T>G (p.Leu3654Arg) c.10946T>G (p.Leu3649Arg) c.10943T>G (p.Leu3648Arg) c.4348T>G c.1768T>G c.242T>G (p.Leu81Arg) c.10958T>G (p.Leu3653Arg) | |
19 | g.38528622T= | CA2335067463 | RYR1 | c.10900T= (n.10900T=) c.10961T= (p.Leu3654=) c.10946T= (p.Leu3649=) c.10943T= (p.Leu3648=) c.4348T= c.1768T= c.242T= (p.Leu81=) c.10958T= (p.Leu3653=) | |
19 | g.38528623G>A | CA507354538 | RYR1 | c.10901G>A (n.10901G>A) c.10962G>A (p.Leu3654=) c.10947G>A (p.Leu3649=) c.10944G>A (p.Leu3648=) c.4349G>A c.1769G>A c.243G>A (p.Leu81=) c.10959G>A (p.Leu3653=) | ClinVar dbSNP gnomAD v4 |
19 | g.38528623G>C | CA507354539 | RYR1 | c.10901G>C (n.10901G>C) c.10962G>C (p.Leu3654=) c.10947G>C (p.Leu3649=) c.10944G>C (p.Leu3648=) c.4349G>C c.1769G>C c.243G>C (p.Leu81=) c.10959G>C (p.Leu3653=) | |
19 | g.38528623G= | CA2335067464 | RYR1 | c.10901G= (n.10901G=) c.10962G= (p.Leu3654=) c.10947G= (p.Leu3649=) c.10944G= (p.Leu3648=) c.4349G= c.1769G= c.243G= (p.Leu81=) c.10959G= (p.Leu3653=) | |
19 | g.38528623G>T | CA507354540 | RYR1 | c.10901G>T (n.10901G>T) c.10962G>T (p.Leu3654=) c.10947G>T (p.Leu3649=) c.10944G>T (p.Leu3648=) c.4349G>T c.1769G>T c.243G>T (p.Leu81=) c.10959G>T (p.Leu3653=) | |
19 | g.38528624G>A | CA405649727 | RYR1 | c.10902G>A (n.10902G>A) c.10963G>A (p.Glu3655Lys) c.10948G>A (p.Glu3650Lys) c.10945G>A (p.Glu3649Lys) c.4350G>A c.1770G>A c.244G>A (p.Glu82Lys) c.10960G>A (p.Glu3654Lys) | gnomAD v4 |
19 | g.38528624G>C | CA405649728 | RYR1 | c.10902G>C (n.10902G>C) c.10963G>C (p.Glu3655Gln) c.10948G>C (p.Glu3650Gln) c.10945G>C (p.Glu3649Gln) c.4350G>C c.1770G>C c.244G>C (p.Glu82Gln) c.10960G>C (p.Glu3654Gln) | |
19 | g.38528624G>T | CA405649729 | RYR1 | c.10902G>T (n.10902G>T) c.10963G>T (p.Glu3655Ter) c.10948G>T (p.Glu3650Ter) c.10945G>T (p.Glu3649Ter) c.4350G>T c.1770G>T c.244G>T (p.Glu82Ter) c.10960G>T (p.Glu3654Ter) | |
19 | g.38528625A>C | CA405649730 | RYR1 | c.10903A>C (n.10903A>C) c.10964A>C (p.Glu3655Ala) c.10949A>C (p.Glu3650Ala) c.10946A>C (p.Glu3649Ala) c.4351A>C c.1771A>C c.245A>C (p.Glu82Ala) c.10961A>C (p.Glu3654Ala) | |
19 | g.38528625A>G | CA405649731 | RYR1 | c.10903A>G (n.10903A>G) c.10964A>G (p.Glu3655Gly) c.10949A>G (p.Glu3650Gly) c.10946A>G (p.Glu3649Gly) c.4351A>G c.1771A>G c.245A>G (p.Glu82Gly) c.10961A>G (p.Glu3654Gly) | |
19 | g.38528625A>T | CA405649732 | RYR1 | c.10903A>T (n.10903A>T) c.10964A>T (p.Glu3655Val) c.10949A>T (p.Glu3650Val) c.10946A>T (p.Glu3649Val) c.4351A>T c.1771A>T c.245A>T (p.Glu82Val) c.10961A>T (p.Glu3654Val) | |
19 | g.38528626G>A | CA507354541 | RYR1 | c.10904G>A (n.10904G>A) c.10965G>A (p.Glu3655=) c.10950G>A (p.Glu3650=) c.10947G>A (p.Glu3649=) c.4352G>A c.1772G>A c.246G>A (p.Glu82=) c.10962G>A (p.Glu3654=) | |
19 | g.38528626G>C | CA405649733 | RYR1 | c.10904G>C (n.10904G>C) c.10965G>C (p.Glu3655Asp) c.10950G>C (p.Glu3650Asp) c.10947G>C (p.Glu3649Asp) c.4352G>C c.1772G>C c.246G>C (p.Glu82Asp) c.10962G>C (p.Glu3654Asp) | |
19 | g.38528626G>T | CA405649734 | RYR1 | c.10904G>T (n.10904G>T) c.10965G>T (p.Glu3655Asp) c.10950G>T (p.Glu3650Asp) c.10947G>T (p.Glu3649Asp) c.4352G>T c.1772G>T c.246G>T (p.Glu82Asp) c.10962G>T (p.Glu3654Asp) | |
19 | g.38528626dup | CA2584906278 | RYR1 | c.10904dup (n.10904dup) c.10965dup (p.Ser3656GlufsTer10) c.10950dup (p.Ser3651GlufsTer10) c.10947dup (p.Ser3650GlufsTer10) c.4352dup c.1772dup c.246dup (p.Ser83GlufsTer10) c.10962dup (p.Ser3655GlufsTer10) | gnomAD v4 |
19 | g.38528627A= | CA2335067465 | RYR1 | c.10905A= (n.10905A=) c.10966A= (p.Ser3656=) c.10951A= (p.Ser3651=) c.10948A= (p.Ser3650=) c.4353A= c.1773A= c.247A= (p.Ser83=) c.10963A= (p.Ser3655=) | |
19 | g.38528627A>C | CA405649736 | RYR1 | c.10905A>C (n.10905A>C) c.10966A>C (p.Ser3656Arg) c.10951A>C (p.Ser3651Arg) c.10948A>C (p.Ser3650Arg) c.4353A>C c.1773A>C c.247A>C (p.Ser83Arg) c.10963A>C (p.Ser3655Arg) | |
19 | g.38528627A>G | CA055474 | RYR1 | c.10905A>G (n.10905A>G) c.10966A>G (p.Ser3656Gly) c.10951A>G (p.Ser3651Gly) c.10948A>G (p.Ser3650Gly) c.4353A>G c.1773A>G c.247A>G (p.Ser83Gly) c.10963A>G (p.Ser3655Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38528627A>T | CA405649735 | RYR1 | c.10905A>T (n.10905A>T) c.10966A>T (p.Ser3656Cys) c.10951A>T (p.Ser3651Cys) c.10948A>T (p.Ser3650Cys) c.4353A>T c.1773A>T c.247A>T (p.Ser83Cys) c.10963A>T (p.Ser3655Cys) | |
19 | g.38528628G>A | CA405649737 | RYR1 | c.10906G>A (n.10906G>A) c.10967G>A (p.Ser3656Asn) c.10952G>A (p.Ser3651Asn) c.10949G>A (p.Ser3650Asn) c.4354G>A c.1774G>A c.248G>A (p.Ser83Asn) c.10964G>A (p.Ser3655Asn) | |
19 | g.38528628G>C | CA405649738 | RYR1 | c.10906G>C (n.10906G>C) c.10967G>C (p.Ser3656Thr) c.10952G>C (p.Ser3651Thr) c.10949G>C (p.Ser3650Thr) c.4354G>C c.1774G>C c.248G>C (p.Ser83Thr) c.10964G>C (p.Ser3655Thr) | |
19 | g.38528628G>T | CA405649739 | RYR1 | c.10906G>T (n.10906G>T) c.10967G>T (p.Ser3656Ile) c.10952G>T (p.Ser3651Ile) c.10949G>T (p.Ser3650Ile) c.4354G>T c.1774G>T c.248G>T (p.Ser83Ile) c.10964G>T (p.Ser3655Ile) | |
19 | g.38528628_38528633delinsAGGGAC | CA080096 | RYR1 | c.10906_10911delinsAGGGAC (n.10906_10911delinsAGGGAC) c.10967_10972delinsAGGGAC (p.Ser3656_Lys3658delinsLysGlyGln) c.10952_10957delinsAGGGAC (p.Ser3651_Lys3653delinsLysGlyGln) c.10949_10954delinsAGGGAC (p.Ser3650_Lys3652delinsLysGlyGln) c.4354_4359delinsAGGGAC c.1774_1779delinsAGGGAC c.248_253delinsAGGGAC (p.Ser83_Lys85delinsLysGlyGln) c.10964_10969delinsAGGGAC (p.Ser3655_Lys3657delinsLysGlyGln) | |
19 | g.38528629C>A | CA405649740 | RYR1 | c.10907C>A (n.10907C>A) c.10968C>A (p.Ser3656Arg) c.10953C>A (p.Ser3651Arg) c.10950C>A (p.Ser3650Arg) c.4355C>A c.1775C>A c.249C>A (p.Ser83Arg) c.10965C>A (p.Ser3655Arg) | gnomAD v4 |
19 | g.38528629C>G | CA405649741 | RYR1 | c.10907C>G (n.10907C>G) c.10968C>G (p.Ser3656Arg) c.10953C>G (p.Ser3651Arg) c.10950C>G (p.Ser3650Arg) c.4355C>G c.1775C>G c.249C>G (p.Ser83Arg) c.10965C>G (p.Ser3655Arg) | |
19 | g.38528629C>T | CA507354542 | RYR1 | c.10907C>T (n.10907C>T) c.10968C>T (p.Ser3656=) c.10953C>T (p.Ser3651=) c.10950C>T (p.Ser3650=) c.4355C>T c.1775C>T c.249C>T (p.Ser83=) c.10965C>T (p.Ser3655=) | gnomAD v4 |
19 | g.38528630T>A | CA405649744 | RYR1 | c.10908T>A (n.10908T>A) c.10969T>A (p.Tyr3657Asn) c.10954T>A (p.Tyr3652Asn) c.10951T>A (p.Tyr3651Asn) c.4356T>A c.1776T>A c.250T>A (p.Tyr84Asn) c.10966T>A (p.Tyr3656Asn) | |
19 | g.38528630T>C | CA405649742 | RYR1 | c.10908T>C (n.10908T>C) c.10969T>C (p.Tyr3657His) c.10954T>C (p.Tyr3652His) c.10951T>C (p.Tyr3651His) c.4356T>C c.1776T>C c.250T>C (p.Tyr84His) c.10966T>C (p.Tyr3656His) | |
19 | g.38528630T>G | CA405649743 | RYR1 | c.10908T>G (n.10908T>G) c.10969T>G (p.Tyr3657Asp) c.10954T>G (p.Tyr3652Asp) c.10951T>G (p.Tyr3651Asp) c.4356T>G c.1776T>G c.250T>G (p.Tyr84Asp) c.10966T>G (p.Tyr3656Asp) | |
19 | g.38528631A= | CA2335067466 | RYR1 | c.10909A= (n.10909A=) c.10970A= (p.Tyr3657=) c.10955A= (p.Tyr3652=) c.10952A= (p.Tyr3651=) c.4357A= c.1777A= c.251A= (p.Tyr84=) c.10967A= (p.Tyr3656=) | |
19 | g.38528631A>C | CA405649745 | RYR1 | c.10909A>C (n.10909A>C) c.10970A>C (p.Tyr3657Ser) c.10955A>C (p.Tyr3652Ser) c.10952A>C (p.Tyr3651Ser) c.4357A>C c.1777A>C c.251A>C (p.Tyr84Ser) c.10967A>C (p.Tyr3656Ser) | |
19 | g.38528631A>G | CA055481 | RYR1 | c.10909A>G (n.10909A>G) c.10970A>G (p.Tyr3657Cys) c.10955A>G (p.Tyr3652Cys) c.10952A>G (p.Tyr3651Cys) c.4357A>G c.1777A>G c.251A>G (p.Tyr84Cys) c.10967A>G (p.Tyr3656Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528631A>T | CA405649746 | RYR1 | c.10909A>T (n.10909A>T) c.10970A>T (p.Tyr3657Phe) c.10955A>T (p.Tyr3652Phe) c.10952A>T (p.Tyr3651Phe) c.4357A>T c.1777A>T c.251A>T (p.Tyr84Phe) c.10967A>T (p.Tyr3656Phe) | |
19 | g.38528632C>A | CA405649747 | RYR1 | c.10910C>A (n.10910C>A) c.10971C>A (p.Tyr3657Ter) c.10956C>A (p.Tyr3652Ter) c.10953C>A (p.Tyr3651Ter) c.4358C>A c.1778C>A c.252C>A (p.Tyr84Ter) c.10968C>A (p.Tyr3656Ter) | |
19 | g.38528632C= | CA2335067467 | RYR1 | c.10910C= (n.10910C=) c.10971C= (p.Tyr3657=) c.10956C= (p.Tyr3652=) c.10953C= (p.Tyr3651=) c.4358C= c.1778C= c.252C= (p.Tyr84=) c.10968C= (p.Tyr3656=) | |
19 | g.38528632C>G | CA405649748 | RYR1 | c.10910C>G (n.10910C>G) c.10971C>G (p.Tyr3657Ter) c.10956C>G (p.Tyr3652Ter) c.10953C>G (p.Tyr3651Ter) c.4358C>G c.1778C>G c.252C>G (p.Tyr84Ter) c.10968C>G (p.Tyr3656Ter) | |
19 | g.38528632C>T | CA080129 | RYR1 | c.10910C>T (n.10910C>T) c.10971C>T (p.Tyr3657=) c.10956C>T (p.Tyr3652=) c.10953C>T (p.Tyr3651=) c.4358C>T c.1778C>T c.252C>T (p.Tyr84=) c.10968C>T (p.Tyr3656=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38528633A= | CA2335067468 | RYR1 | c.10911A= (n.10911A=) c.10972A= (p.Lys3658=) c.10957A= (p.Lys3653=) c.10954A= (p.Lys3652=) c.4359A= c.1779A= c.253A= (p.Lys85=) c.10969A= (p.Lys3657=) | |
19 | g.38528633A>C | CA405649749 | RYR1 | c.10911A>C (n.10911A>C) c.10972A>C (p.Lys3658Gln) c.10957A>C (p.Lys3653Gln) c.10954A>C (p.Lys3652Gln) c.4359A>C c.1779A>C c.253A>C (p.Lys85Gln) c.10969A>C (p.Lys3657Gln) | |
19 | g.38528633A>G | CA080130 | RYR1 | c.10911A>G (n.10911A>G) c.10972A>G (p.Lys3658Glu) c.10957A>G (p.Lys3653Glu) c.10954A>G (p.Lys3652Glu) c.4359A>G c.1779A>G c.253A>G (p.Lys85Glu) c.10969A>G (p.Lys3657Glu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38528633A>T | CA405649750 | RYR1 | c.10911A>T (n.10911A>T) c.10972A>T (p.Lys3658Ter) c.10957A>T (p.Lys3653Ter) c.10954A>T (p.Lys3652Ter) c.4359A>T c.1779A>T c.253A>T (p.Lys85Ter) c.10969A>T (p.Lys3657Ter) | |
19 | g.38528634A>C | CA405649751 | RYR1 | c.10912A>C (n.10912A>C) c.10973A>C (p.Lys3658Thr) c.10958A>C (p.Lys3653Thr) c.10955A>C (p.Lys3652Thr) c.4360A>C c.1780A>C c.254A>C (p.Lys85Thr) c.10970A>C (p.Lys3657Thr) | |
19 | g.38528634A>G | CA405649752 | RYR1 | c.10912A>G (n.10912A>G) c.10973A>G (p.Lys3658Arg) c.10958A>G (p.Lys3653Arg) c.10955A>G (p.Lys3652Arg) c.4360A>G c.1780A>G c.254A>G (p.Lys85Arg) c.10970A>G (p.Lys3657Arg) | |
19 | g.38528634A>T | CA405649753 | RYR1 | c.10912A>T (n.10912A>T) c.10973A>T (p.Lys3658Met) c.10958A>T (p.Lys3653Met) c.10955A>T (p.Lys3652Met) c.4360A>T c.1780A>T c.254A>T (p.Lys85Met) c.10970A>T (p.Lys3657Met) | gnomAD v4 |
19 | g.38528635G>A | CA507354543 | RYR1 | c.10913G>A (n.10913G>A) c.10974G>A (p.Lys3658=) c.10959G>A (p.Lys3653=) c.10956G>A (p.Lys3652=) c.4361G>A c.1781G>A c.255G>A (p.Lys85=) c.10971G>A (p.Lys3657=) | |
19 | g.38528635G>C | CA405649754 | RYR1 | c.10913G>C (n.10913G>C) c.10974G>C (p.Lys3658Asn) c.10959G>C (p.Lys3653Asn) c.10956G>C (p.Lys3652Asn) c.4361G>C c.1781G>C c.255G>C (p.Lys85Asn) c.10971G>C (p.Lys3657Asn) | |
19 | g.38528635G>T | CA405649755 | RYR1 | c.10913G>T (n.10913G>T) c.10974G>T (p.Lys3658Asn) c.10959G>T (p.Lys3653Asn) c.10956G>T (p.Lys3652Asn) c.4361G>T c.1781G>T c.255G>T (p.Lys85Asn) c.10971G>T (p.Lys3657Asn) | |
19 | g.38528636G>A | CA405649756 | RYR1 | c.10914G>A (n.10914G>A) c.10975G>A (p.Ala3659Thr) c.10960G>A (p.Ala3654Thr) c.10957G>A (p.Ala3653Thr) c.4362G>A c.1782G>A c.256G>A (p.Ala86Thr) c.10972G>A (p.Ala3658Thr) | |
19 | g.38528636G>C | CA055486 | RYR1 | c.10914G>C (n.10914G>C) c.10975G>C (p.Ala3659Pro) c.10960G>C (p.Ala3654Pro) c.10957G>C (p.Ala3653Pro) c.4362G>C c.1782G>C c.256G>C (p.Ala86Pro) c.10972G>C (p.Ala3658Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528636G= | CA2335067469 | RYR1 | c.10914G= (n.10914G=) c.10975G= (p.Ala3659=) c.10960G= (p.Ala3654=) c.10957G= (p.Ala3653=) c.4362G= c.1782G= c.256G= (p.Ala86=) c.10972G= (p.Ala3658=) | |
19 | g.38528636G>T | CA405649757 | RYR1 | c.10914G>T (n.10914G>T) c.10975G>T (p.Ala3659Ser) c.10960G>T (p.Ala3654Ser) c.10957G>T (p.Ala3653Ser) c.4362G>T c.1782G>T c.256G>T (p.Ala86Ser) c.10972G>T (p.Ala3658Ser) | |
19 | g.38528637C>A | CA405649758 | RYR1 | c.10915C>A (n.10915C>A) c.10976C>A (p.Ala3659Asp) c.10961C>A (p.Ala3654Asp) c.10958C>A (p.Ala3653Asp) c.4363C>A c.1783C>A c.257C>A (p.Ala86Asp) c.10973C>A (p.Ala3658Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38528637C= | CA2335067470 | RYR1 | c.10915C= (n.10915C=) c.10976C= (p.Ala3659=) c.10961C= (p.Ala3654=) c.10958C= (p.Ala3653=) c.4363C= c.1783C= c.257C= (p.Ala86=) c.10973C= (p.Ala3658=) | |
19 | g.38528637C>G | CA405649759 | RYR1 | c.10915C>G (n.10915C>G) c.10976C>G (p.Ala3659Gly) c.10961C>G (p.Ala3654Gly) c.10958C>G (p.Ala3653Gly) c.4363C>G c.1783C>G c.257C>G (p.Ala86Gly) c.10973C>G (p.Ala3658Gly) | |
19 | g.38528637C>T | CA405649760 | RYR1 | c.10915C>T (n.10915C>T) c.10976C>T (p.Ala3659Val) c.10961C>T (p.Ala3654Val) c.10958C>T (p.Ala3653Val) c.4363C>T c.1783C>T c.257C>T (p.Ala86Val) c.10973C>T (p.Ala3658Val) | gnomAD v4 |
19 | g.38528638T>A | CA507354544 | RYR1 | c.10916T>A (n.10916T>A) c.10977T>A (p.Ala3659=) c.10962T>A (p.Ala3654=) c.10959T>A (p.Ala3653=) c.4364T>A c.1784T>A c.258T>A (p.Ala86=) c.10974T>A (p.Ala3658=) | |
19 | g.38528638T>C | CA507354545 | RYR1 | c.10916T>C (n.10916T>C) c.10977T>C (p.Ala3659=) c.10962T>C (p.Ala3654=) c.10959T>C (p.Ala3653=) c.4364T>C c.1784T>C c.258T>C (p.Ala86=) c.10974T>C (p.Ala3658=) | |
19 | g.38528638T>G | CA507354546 | RYR1 | c.10916T>G (n.10916T>G) c.10977T>G (p.Ala3659=) c.10962T>G (p.Ala3654=) c.10959T>G (p.Ala3653=) c.4364T>G c.1784T>G c.258T>G (p.Ala86=) c.10974T>G (p.Ala3658=) | |
19 | g.38528639G>A | CA405649762 | RYR1 | c.10917G>A (n.10917G>A) c.10978G>A (p.Ala3660Thr) c.10963G>A (p.Ala3655Thr) c.10960G>A (p.Ala3654Thr) c.4365G>A c.1785G>A c.259G>A (p.Ala87Thr) c.10975G>A (p.Ala3659Thr) | |
19 | g.38528639G>C | CA055495 | RYR1 | c.10917G>C (n.10917G>C) c.10978G>C (p.Ala3660Pro) c.10963G>C (p.Ala3655Pro) c.10960G>C (p.Ala3654Pro) c.4365G>C c.1785G>C c.259G>C (p.Ala87Pro) c.10975G>C (p.Ala3659Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528639G= | CA2335067471 | RYR1 | c.10917G= (n.10917G=) c.10978G= (p.Ala3660=) c.10963G= (p.Ala3655=) c.10960G= (p.Ala3654=) c.4365G= c.1785G= c.259G= (p.Ala87=) c.10975G= (p.Ala3659=) | |
19 | g.38528639G>T | CA405649761 | RYR1 | c.10917G>T (n.10917G>T) c.10978G>T (p.Ala3660Ser) c.10963G>T (p.Ala3655Ser) c.10960G>T (p.Ala3654Ser) c.4365G>T c.1785G>T c.259G>T (p.Ala87Ser) c.10975G>T (p.Ala3659Ser) | gnomAD v4 |
19 | g.38528640C>A | CA405649763 | RYR1 | c.10918C>A (n.10918C>A) c.10979C>A (p.Ala3660Glu) c.10964C>A (p.Ala3655Glu) c.10961C>A (p.Ala3654Glu) c.4366C>A c.1786C>A c.260C>A (p.Ala87Glu) c.10976C>A (p.Ala3659Glu) | |
19 | g.38528640C= | CA2335067472 | RYR1 | c.10918C= (n.10918C=) c.10979C= (p.Ala3660=) c.10964C= (p.Ala3655=) c.10961C= (p.Ala3654=) c.4366C= c.1786C= c.260C= (p.Ala87=) c.10976C= (p.Ala3659=) | |
19 | g.38528640C>G | CA405649765 | RYR1 | c.10918C>G (n.10918C>G) c.10979C>G (p.Ala3660Gly) c.10964C>G (p.Ala3655Gly) c.10961C>G (p.Ala3654Gly) c.4366C>G c.1786C>G c.260C>G (p.Ala87Gly) c.10976C>G (p.Ala3659Gly) | |
19 | g.38528640C>T | CA405649764 | RYR1 | c.10918C>T (n.10918C>T) c.10979C>T (p.Ala3660Val) c.10964C>T (p.Ala3655Val) c.10961C>T (p.Ala3654Val) c.4366C>T c.1786C>T c.260C>T (p.Ala87Val) c.10976C>T (p.Ala3659Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38528641A= | CA2335067473 | RYR1 | c.10919A= (n.10919A=) c.10980A= (p.Ala3660=) c.10965A= (p.Ala3655=) c.10962A= (p.Ala3654=) c.4367A= c.1787A= c.261A= (p.Ala87=) c.10977A= (p.Ala3659=) | |
19 | g.38528641A>C | CA507354547 | RYR1 | c.10919A>C (n.10919A>C) c.10980A>C (p.Ala3660=) c.10965A>C (p.Ala3655=) c.10962A>C (p.Ala3654=) c.4367A>C c.1787A>C c.261A>C (p.Ala87=) c.10977A>C (p.Ala3659=) | |
19 | g.38528641A>G | CA055504 | RYR1 | c.10919A>G (n.10919A>G) c.10980A>G (p.Ala3660=) c.10965A>G (p.Ala3655=) c.10962A>G (p.Ala3654=) c.4367A>G c.1787A>G c.261A>G (p.Ala87=) c.10977A>G (p.Ala3659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38528641A>T | CA507354548 | RYR1 | c.10919A>T (n.10919A>T) c.10980A>T (p.Ala3660=) c.10965A>T (p.Ala3655=) c.10962A>T (p.Ala3654=) c.4367A>T c.1787A>T c.261A>T (p.Ala87=) c.10977A>T (p.Ala3659=) | |
19 | g.38528642T>A | CA405649766 | RYR1 | c.10920T>A (n.10920T>A) c.10981T>A (p.Trp3661Arg) c.10966T>A (p.Trp3656Arg) c.10963T>A (p.Trp3655Arg) c.4368T>A c.1788T>A c.262T>A (p.Trp88Arg) c.10978T>A (p.Trp3660Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38528642T>C | CA405649767 | RYR1 | c.10920T>C (n.10920T>C) c.10981T>C (p.Trp3661Arg) c.10966T>C (p.Trp3656Arg) c.10963T>C (p.Trp3655Arg) c.4368T>C c.1788T>C c.262T>C (p.Trp88Arg) c.10978T>C (p.Trp3660Arg) | |
19 | g.38528642T>G | CA405649768 | RYR1 | c.10920T>G (n.10920T>G) c.10981T>G (p.Trp3661Gly) c.10966T>G (p.Trp3656Gly) c.10963T>G (p.Trp3655Gly) c.4368T>G c.1788T>G c.262T>G (p.Trp88Gly) c.10978T>G (p.Trp3660Gly) | |
19 | g.38528642T= | CA2335067474 | RYR1 | c.10920T= (n.10920T=) c.10981T= (p.Trp3661=) c.10966T= (p.Trp3656=) c.10963T= (p.Trp3655=) c.4368T= c.1788T= c.262T= (p.Trp88=) c.10978T= (p.Trp3660=) | |
19 | g.38528643G>A | CA405649769 | RYR1 | c.10921G>A (n.10921G>A) c.10982G>A (p.Trp3661Ter) c.10967G>A (p.Trp3656Ter) c.10964G>A (p.Trp3655Ter) c.4369G>A c.1789G>A c.263G>A (p.Trp88Ter) c.10979G>A (p.Trp3660Ter) | |
19 | g.38528643G>C | CA405649770 | RYR1 | c.10921G>C (n.10921G>C) c.10982G>C (p.Trp3661Ser) c.10967G>C (p.Trp3656Ser) c.10964G>C (p.Trp3655Ser) c.4369G>C c.1789G>C c.263G>C (p.Trp88Ser) c.10979G>C (p.Trp3660Ser) | |
19 | g.38528643G>T | CA405649771 | RYR1 | c.10921G>T (n.10921G>T) c.10982G>T (p.Trp3661Leu) c.10967G>T (p.Trp3656Leu) c.10964G>T (p.Trp3655Leu) c.4369G>T c.1789G>T c.263G>T (p.Trp88Leu) c.10979G>T (p.Trp3660Leu) | |
19 | g.38528644G>A | CA405649772 | RYR1 | c.10922G>A (n.10922G>A) c.10983G>A (p.Trp3661Ter) c.10968G>A (p.Trp3656Ter) c.10965G>A (p.Trp3655Ter) c.4370G>A c.1790G>A c.264G>A (p.Trp88Ter) c.10980G>A (p.Trp3660Ter) | gnomAD v4 |
19 | g.38528644G>C | CA405649773 | RYR1 | c.10922G>C (n.10922G>C) c.10983G>C (p.Trp3661Cys) c.10968G>C (p.Trp3656Cys) c.10965G>C (p.Trp3655Cys) c.4370G>C c.1790G>C c.264G>C (p.Trp88Cys) c.10980G>C (p.Trp3660Cys) | |
19 | g.38528644G>T | CA405649774 | RYR1 | c.10922G>T (n.10922G>T) c.10983G>T (p.Trp3661Cys) c.10968G>T (p.Trp3656Cys) c.10965G>T (p.Trp3655Cys) c.4370G>T c.1790G>T c.264G>T (p.Trp88Cys) c.10980G>T (p.Trp3660Cys) | |
19 | g.38528645A>C | CA405649776 | RYR1 | c.10923A>C (n.10923A>C) c.10984A>C (p.Ile3662Leu) c.10969A>C (p.Ile3657Leu) c.10966A>C (p.Ile3656Leu) c.4371A>C c.1791A>C c.265A>C (p.Ile89Leu) c.10981A>C (p.Ile3661Leu) | |
19 | g.38528645A>G | CA080131 | RYR1 | c.10923A>G (n.10923A>G) c.10984A>G (p.Ile3662Val) c.10969A>G (p.Ile3657Val) c.10966A>G (p.Ile3656Val) c.4371A>G c.1791A>G c.265A>G (p.Ile89Val) c.10981A>G (p.Ile3661Val) | |
19 | g.38528645A>T | CA405649775 | RYR1 | c.10923A>T (n.10923A>T) c.10984A>T (p.Ile3662Phe) c.10969A>T (p.Ile3657Phe) c.10966A>T (p.Ile3656Phe) c.4371A>T c.1791A>T c.265A>T (p.Ile89Phe) c.10981A>T (p.Ile3661Phe) | |
19 | g.38528646T>A | CA405649777 | RYR1 | c.10924T>A (n.10924T>A) c.10985T>A (p.Ile3662Asn) c.10970T>A (p.Ile3657Asn) c.10967T>A (p.Ile3656Asn) c.4372T>A c.1792T>A c.266T>A (p.Ile89Asn) c.10982T>A (p.Ile3661Asn) | |
19 | g.38528646T>C | CA405649778 | RYR1 | c.10924T>C (n.10924T>C) c.10985T>C (p.Ile3662Thr) c.10970T>C (p.Ile3657Thr) c.10967T>C (p.Ile3656Thr) c.4372T>C c.1792T>C c.266T>C (p.Ile89Thr) c.10982T>C (p.Ile3661Thr) | |
19 | g.38528646T>G | CA405649779 | RYR1 | c.10924T>G (n.10924T>G) c.10985T>G (p.Ile3662Ser) c.10970T>G (p.Ile3657Ser) c.10967T>G (p.Ile3656Ser) c.4372T>G c.1792T>G c.266T>G (p.Ile89Ser) c.10982T>G (p.Ile3661Ser) | |
19 | g.38528646dup | CA2584906309 | RYR1 | c.10924dup (n.10924dup) c.10985dup (p.Leu3663ProfsTer3) c.10970dup (p.Leu3658ProfsTer3) c.10967dup (p.Leu3657ProfsTer3) c.4372dup c.1792dup c.266dup (p.Leu90ProfsTer3) c.10982dup (p.Leu3662ProfsTer3) | gnomAD v4 |
19 | g.38528646_38528775delinsCCTCAA | CA2499225474 | RYR1 | c.10924_10973+80delinsCCTCAA c.10985_11034+80delinsCCTCAA c.10970_11019+80delinsCCTCAA c.10967_11016+80delinsCCTCAA c.4372_4421+80delinsCCTCAA c.1792_1841+80delinsCCTCAA c.266_315+80delinsCCTCAA c.10982_11031+80delinsCCTCAA | ClinVar dbSNP |
19 | g.38528647C>A | CA507354549 | RYR1 | c.10925C>A (n.10925C>A) c.10986C>A (p.Ile3662=) c.10971C>A (p.Ile3657=) c.10968C>A (p.Ile3656=) c.4373C>A c.1793C>A c.267C>A (p.Ile89=) c.10983C>A (p.Ile3661=) | |
19 | g.38528647C>G | CA405649780 | RYR1 | c.10925C>G (n.10925C>G) c.10986C>G (p.Ile3662Met) c.10971C>G (p.Ile3657Met) c.10968C>G (p.Ile3656Met) c.4373C>G c.1793C>G c.267C>G (p.Ile89Met) c.10983C>G (p.Ile3661Met) | |
19 | g.38528647C>T | CA507354550 | RYR1 | c.10925C>T (n.10925C>T) c.10986C>T (p.Ile3662=) c.10971C>T (p.Ile3657=) c.10968C>T (p.Ile3656=) c.4373C>T c.1793C>T c.267C>T (p.Ile89=) c.10983C>T (p.Ile3661=) | |
19 | g.38528648C>A | CA405649781 | RYR1 | c.10926C>A (n.10926C>A) c.10987C>A (p.Leu3663Met) c.10972C>A (p.Leu3658Met) c.10969C>A (p.Leu3657Met) c.4374C>A c.1794C>A c.268C>A (p.Leu90Met) c.10984C>A (p.Leu3662Met) | |
19 | g.38528648C>G | CA405649782 | RYR1 | c.10926C>G (n.10926C>G) c.10987C>G (p.Leu3663Val) c.10972C>G (p.Leu3658Val) c.10969C>G (p.Leu3657Val) c.4374C>G c.1794C>G c.268C>G (p.Leu90Val) c.10984C>G (p.Leu3662Val) | |
19 | g.38528648C>T | CA507354551 | RYR1 | c.10926C>T (n.10926C>T) c.10987C>T (p.Leu3663=) c.10972C>T (p.Leu3658=) c.10969C>T (p.Leu3657=) c.4374C>T c.1794C>T c.268C>T (p.Leu90=) c.10984C>T (p.Leu3662=) | |
19 | g.38528649T>A | CA405649783 | RYR1 | c.10927T>A (n.10927T>A) c.10988T>A (p.Leu3663Gln) c.10973T>A (p.Leu3658Gln) c.10970T>A (p.Leu3657Gln) c.4375T>A c.1795T>A c.269T>A (p.Leu90Gln) c.10985T>A (p.Leu3662Gln) | |
19 | g.38528649T>C | CA405649784 | RYR1 | c.10927T>C (n.10927T>C) c.10988T>C (p.Leu3663Pro) c.10973T>C (p.Leu3658Pro) c.10970T>C (p.Leu3657Pro) c.4375T>C c.1795T>C c.269T>C (p.Leu90Pro) c.10985T>C (p.Leu3662Pro) | |
19 | g.38528649T>G | CA405649785 | RYR1 | c.10927T>G (n.10927T>G) c.10988T>G (p.Leu3663Arg) c.10973T>G (p.Leu3658Arg) c.10970T>G (p.Leu3657Arg) c.4375T>G c.1795T>G c.269T>G (p.Leu90Arg) c.10985T>G (p.Leu3662Arg) | |
19 | g.38528650G>A | CA507354552 | RYR1 | c.10928G>A (n.10928G>A) c.10989G>A (p.Leu3663=) c.10974G>A (p.Leu3658=) c.10971G>A (p.Leu3657=) c.4376G>A c.1796G>A c.270G>A (p.Leu90=) c.10986G>A (p.Leu3662=) | |
19 | g.38528650G>C | CA507354553 | RYR1 | c.10928G>C (n.10928G>C) c.10989G>C (p.Leu3663=) c.10974G>C (p.Leu3658=) c.10971G>C (p.Leu3657=) c.4376G>C c.1796G>C c.270G>C (p.Leu90=) c.10986G>C (p.Leu3662=) | |
19 | g.38528650G>T | CA507354554 | RYR1 | c.10928G>T (n.10928G>T) c.10989G>T (p.Leu3663=) c.10974G>T (p.Leu3658=) c.10971G>T (p.Leu3657=) c.4376G>T c.1796G>T c.270G>T (p.Leu90=) c.10986G>T (p.Leu3662=) | |
19 | g.38528651A= | CA2335067475 | RYR1 | c.10929A= (n.10929A=) c.10990A= (p.Thr3664=) c.10975A= (p.Thr3659=) c.10972A= (p.Thr3658=) c.4377A= c.1797A= c.271A= (p.Thr91=) c.10987A= (p.Thr3663=) | |
19 | g.38528651A>C | CA405649786 | RYR1 | c.10929A>C (n.10929A>C) c.10990A>C (p.Thr3664Pro) c.10975A>C (p.Thr3659Pro) c.10972A>C (p.Thr3658Pro) c.4377A>C c.1797A>C c.271A>C (p.Thr91Pro) c.10987A>C (p.Thr3663Pro) | |
19 | g.38528651A>G | CA405649787 | RYR1 | c.10929A>G (n.10929A>G) c.10990A>G (p.Thr3664Ala) c.10975A>G (p.Thr3659Ala) c.10972A>G (p.Thr3658Ala) c.4377A>G c.1797A>G c.271A>G (p.Thr91Ala) c.10987A>G (p.Thr3663Ala) | dbSNP gnomAD v4 |
19 | g.38528651A>T | CA405649788 | RYR1 | c.10929A>T (n.10929A>T) c.10990A>T (p.Thr3664Ser) c.10975A>T (p.Thr3659Ser) c.10972A>T (p.Thr3658Ser) c.4377A>T c.1797A>T c.271A>T (p.Thr91Ser) c.10987A>T (p.Thr3663Ser) | |
19 | g.38528652C>A | CA405649790 | RYR1 | c.10930C>A (n.10930C>A) c.10991C>A (p.Thr3664Asn) c.10976C>A (p.Thr3659Asn) c.10973C>A (p.Thr3658Asn) c.4378C>A c.1798C>A c.272C>A (p.Thr91Asn) c.10988C>A (p.Thr3663Asn) | |
19 | g.38528652C= | CA2335067476 | RYR1 | c.10930C= (n.10930C=) c.10991C= (p.Thr3664=) c.10976C= (p.Thr3659=) c.10973C= (p.Thr3658=) c.4378C= c.1798C= c.272C= (p.Thr91=) c.10988C= (p.Thr3663=) | |
19 | g.38528652C>G | CA308082052 | RYR1 | c.10930C>G (n.10930C>G) c.10991C>G (p.Thr3664Ser) c.10976C>G (p.Thr3659Ser) c.10973C>G (p.Thr3658Ser) c.4378C>G c.1798C>G c.272C>G (p.Thr91Ser) c.10988C>G (p.Thr3663Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38528652C>T | CA405649789 | RYR1 | c.10930C>T (n.10930C>T) c.10991C>T (p.Thr3664Ile) c.10976C>T (p.Thr3659Ile) c.10973C>T (p.Thr3658Ile) c.4378C>T c.1798C>T c.272C>T (p.Thr91Ile) c.10988C>T (p.Thr3663Ile) | gnomAD v4 |
19 | g.38528652_38528654delinsAGC | CA080102 | RYR1 | c.10930_10932delinsAGC (n.10930_10932delinsAGC) c.10991_10993delinsAGC (p.Thr3664_Glu3665delinsLysGln) c.10976_10978delinsAGC (p.Thr3659_Glu3660delinsLysGln) c.10973_10975delinsAGC (p.Thr3658_Glu3659delinsLysGln) c.4378_4380delinsAGC c.1798_1800delinsAGC c.272_274delinsAGC (p.Thr91_Glu92delinsLysGln) c.10988_10990delinsAGC (p.Thr3663_Glu3664delinsLysGln) | |
19 | g.38528653T>A | CA507354555 | RYR1 | c.10931T>A (n.10931T>A) c.10992T>A (p.Thr3664=) c.10977T>A (p.Thr3659=) c.10974T>A (p.Thr3658=) c.4379T>A c.1799T>A c.273T>A (p.Thr91=) c.10989T>A (p.Thr3663=) | |
19 | g.38528653T>C | CA507354556 | RYR1 | c.10931T>C (n.10931T>C) c.10992T>C (p.Thr3664=) c.10977T>C (p.Thr3659=) c.10974T>C (p.Thr3658=) c.4379T>C c.1799T>C c.273T>C (p.Thr91=) c.10989T>C (p.Thr3663=) | ClinVar |
19 | g.38528653T>G | CA507354557 | RYR1 | c.10931T>G (n.10931T>G) c.10992T>G (p.Thr3664=) c.10977T>G (p.Thr3659=) c.10974T>G (p.Thr3658=) c.4379T>G c.1799T>G c.273T>G (p.Thr91=) c.10989T>G (p.Thr3663=) | |
19 | g.38528654G>A | CA405649791 | RYR1 | c.10932G>A (n.10932G>A) c.10993G>A (p.Glu3665Lys) c.10978G>A (p.Glu3660Lys) c.10975G>A (p.Glu3659Lys) c.4380G>A c.1800G>A c.274G>A (p.Glu92Lys) c.10990G>A (p.Glu3664Lys) | |
19 | g.38528654G>C | CA080133 | RYR1 | c.10932G>C (n.10932G>C) c.10993G>C (p.Glu3665Gln) c.10978G>C (p.Glu3660Gln) c.10975G>C (p.Glu3659Gln) c.4380G>C c.1800G>C c.274G>C (p.Glu92Gln) c.10990G>C (p.Glu3664Gln) | |
19 | g.38528654G>T | CA405649792 | RYR1 | c.10932G>T (n.10932G>T) c.10993G>T (p.Glu3665Ter) c.10978G>T (p.Glu3660Ter) c.10975G>T (p.Glu3659Ter) c.4380G>T c.1800G>T c.274G>T (p.Glu92Ter) c.10990G>T (p.Glu3664Ter) | |
19 | g.38528655A>C | CA405649793 | RYR1 | c.10933A>C (n.10933A>C) c.10994A>C (p.Glu3665Ala) c.10979A>C (p.Glu3660Ala) c.10976A>C (p.Glu3659Ala) c.4381A>C c.1801A>C c.275A>C (p.Glu92Ala) c.10991A>C (p.Glu3664Ala) | |
19 | g.38528655A>G | CA405649794 | RYR1 | c.10933A>G (n.10933A>G) c.10994A>G (p.Glu3665Gly) c.10979A>G (p.Glu3660Gly) c.10976A>G (p.Glu3659Gly) c.4381A>G c.1801A>G c.275A>G (p.Glu92Gly) c.10991A>G (p.Glu3664Gly) | |
19 | g.38528655A>T | CA405649795 | RYR1 | c.10933A>T (n.10933A>T) c.10994A>T (p.Glu3665Val) c.10979A>T (p.Glu3660Val) c.10976A>T (p.Glu3659Val) c.4381A>T c.1801A>T c.275A>T (p.Glu92Val) c.10991A>T (p.Glu3664Val) | |
19 | g.38528656A>C | CA405649797 | RYR1 | c.10934A>C (n.10934A>C) c.10995A>C (p.Glu3665Asp) c.10980A>C (p.Glu3660Asp) c.10977A>C (p.Glu3659Asp) c.4382A>C c.1802A>C c.276A>C (p.Glu92Asp) c.10992A>C (p.Glu3664Asp) | gnomAD v4 COSMIC |
19 | g.38528656A>G | CA507354558 | RYR1 | c.10934A>G (n.10934A>G) c.10995A>G (p.Glu3665=) c.10980A>G (p.Glu3660=) c.10977A>G (p.Glu3659=) c.4382A>G c.1802A>G c.276A>G (p.Glu92=) c.10992A>G (p.Glu3664=) | |
19 | g.38528656A>T | CA405649796 | RYR1 | c.10934A>T (n.10934A>T) c.10995A>T (p.Glu3665Asp) c.10980A>T (p.Glu3660Asp) c.10977A>T (p.Glu3659Asp) c.4382A>T c.1802A>T c.276A>T (p.Glu92Asp) c.10992A>T (p.Glu3664Asp) | |
19 | g.38528657G>A | CA055520 | RYR1 | c.10935G>A (n.10935G>A) c.10996G>A (p.Asp3666Asn) c.10981G>A (p.Asp3661Asn) c.10978G>A (p.Asp3660Asn) c.4383G>A c.1803G>A c.277G>A (p.Asp93Asn) c.10993G>A (p.Asp3665Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528657G>C | CA080134 | RYR1 | c.10935G>C (n.10935G>C) c.10996G>C (p.Asp3666His) c.10981G>C (p.Asp3661His) c.10978G>C (p.Asp3660His) c.4383G>C c.1803G>C c.277G>C (p.Asp93His) c.10993G>C (p.Asp3665His) | |
19 | g.38528657G= | CA2335067477 | RYR1 | c.10935G= (n.10935G=) c.10996G= (p.Asp3666=) c.10981G= (p.Asp3661=) c.10978G= (p.Asp3660=) c.4383G= c.1803G= c.277G= (p.Asp93=) c.10993G= (p.Asp3665=) | |
19 | g.38528657G>T | CA405649798 | RYR1 | c.10935G>T (n.10935G>T) c.10996G>T (p.Asp3666Tyr) c.10981G>T (p.Asp3661Tyr) c.10978G>T (p.Asp3660Tyr) c.4383G>T c.1803G>T c.277G>T (p.Asp93Tyr) c.10993G>T (p.Asp3665Tyr) | |
19 | g.38528658A>C | CA405649799 | RYR1 | c.10936A>C (n.10936A>C) c.10997A>C (p.Asp3666Ala) c.10982A>C (p.Asp3661Ala) c.10979A>C (p.Asp3660Ala) c.4384A>C c.1804A>C c.278A>C (p.Asp93Ala) c.10994A>C (p.Asp3665Ala) | |
19 | g.38528658A>G | CA405649800 | RYR1 | c.10936A>G (n.10936A>G) c.10997A>G (p.Asp3666Gly) c.10982A>G (p.Asp3661Gly) c.10979A>G (p.Asp3660Gly) c.4384A>G c.1804A>G c.278A>G (p.Asp93Gly) c.10994A>G (p.Asp3665Gly) | |
19 | g.38528658A>T | CA405649801 | RYR1 | c.10936A>T (n.10936A>T) c.10997A>T (p.Asp3666Val) c.10982A>T (p.Asp3661Val) c.10979A>T (p.Asp3660Val) c.4384A>T c.1804A>T c.278A>T (p.Asp93Val) c.10994A>T (p.Asp3665Val) | |
19 | g.38528659C>A | CA405649802 | RYR1 | c.10937C>A (n.10937C>A) c.10998C>A (p.Asp3666Glu) c.10983C>A (p.Asp3661Glu) c.10980C>A (p.Asp3660Glu) c.4385C>A c.1805C>A c.279C>A (p.Asp93Glu) c.10995C>A (p.Asp3665Glu) | |
19 | g.38528659C= | CA2335067478 | RYR1 | c.10937C= (n.10937C=) c.10998C= (p.Asp3666=) c.10983C= (p.Asp3661=) c.10980C= (p.Asp3660=) c.4385C= c.1805C= c.279C= (p.Asp93=) c.10995C= (p.Asp3665=) | |
19 | g.38528659C>G | CA405649803 | RYR1 | c.10937C>G (n.10937C>G) c.10998C>G (p.Asp3666Glu) c.10983C>G (p.Asp3661Glu) c.10980C>G (p.Asp3660Glu) c.4385C>G c.1805C>G c.279C>G (p.Asp93Glu) c.10995C>G (p.Asp3665Glu) | |
19 | g.38528659C>T | CA308082054 | RYR1 | c.10937C>T (n.10937C>T) c.10998C>T (p.Asp3666=) c.10983C>T (p.Asp3661=) c.10980C>T (p.Asp3660=) c.4385C>T c.1805C>T c.279C>T (p.Asp93=) c.10995C>T (p.Asp3665=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38528660C>A | CA405649804 | RYR1 | c.10938C>A (n.10938C>A) c.10999C>A (p.His3667Asn) c.10984C>A (p.His3662Asn) c.10981C>A (p.His3661Asn) c.4386C>A c.1806C>A c.280C>A (p.His94Asn) c.10996C>A (p.His3666Asn) | |
19 | g.38528660C= | CA2335067479 | RYR1 | c.10938C= (n.10938C=) c.10999C= (p.His3667=) c.10984C= (p.His3662=) c.10981C= (p.His3661=) c.4386C= c.1806C= c.280C= (p.His94=) c.10996C= (p.His3666=) | |
19 | g.38528660C>G | CA405649805 | RYR1 | c.10938C>G (n.10938C>G) c.10999C>G (p.His3667Asp) c.10984C>G (p.His3662Asp) c.10981C>G (p.His3661Asp) c.4386C>G c.1806C>G c.280C>G (p.His94Asp) c.10996C>G (p.His3666Asp) | |
19 | g.38528660C>T | CA055531 | RYR1 | c.10938C>T (n.10938C>T) c.10999C>T (p.His3667Tyr) c.10984C>T (p.His3662Tyr) c.10981C>T (p.His3661Tyr) c.4386C>T c.1806C>T c.280C>T (p.His94Tyr) c.10996C>T (p.His3666Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38528662_38528663del | CA2584906311 | RYR1 | c.10940_10941del (n.10940_10941del) c.11001_11002del (p.His3667GlnfsTer3) c.10986_10987del (p.His3662GlnfsTer3) c.10983_10984del (p.His3661GlnfsTer3) c.4388_4389del c.1808_1809del c.282_283del (p.His94GlnfsTer3) c.10998_10999del (p.His3666GlnfsTer3) | gnomAD v4 |
19 | g.38528661A= | CA2335067480 | RYR1 | c.10939A= (n.10939A=) c.11000A= (p.His3667=) c.10985A= (p.His3662=) c.10982A= (p.His3661=) c.4387A= c.1807A= c.281A= (p.His94=) c.10997A= (p.His3666=) | |
19 | g.38528661A>C | CA405649806 | RYR1 | c.10939A>C (n.10939A>C) c.11000A>C (p.His3667Pro) c.10985A>C (p.His3662Pro) c.10982A>C (p.His3661Pro) c.4387A>C c.1807A>C c.281A>C (p.His94Pro) c.10997A>C (p.His3666Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38528661A>G | CA405649807 | RYR1 | c.10939A>G (n.10939A>G) c.11000A>G (p.His3667Arg) c.10985A>G (p.His3662Arg) c.10982A>G (p.His3661Arg) c.4387A>G c.1807A>G c.281A>G (p.His94Arg) c.10997A>G (p.His3666Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528661A>T | CA405649808 | RYR1 | c.10939A>T (n.10939A>T) c.11000A>T (p.His3667Leu) c.10985A>T (p.His3662Leu) c.10982A>T (p.His3661Leu) c.4387A>T c.1807A>T c.281A>T (p.His94Leu) c.10997A>T (p.His3666Leu) | |
19 | g.38528662C>A | CA405649809 | RYR1 | c.10940C>A (n.10940C>A) c.11001C>A (p.His3667Gln) c.10986C>A (p.His3662Gln) c.10983C>A (p.His3661Gln) c.4388C>A c.1808C>A c.282C>A (p.His94Gln) c.10998C>A (p.His3666Gln) | |
19 | g.38528662C>G | CA405649810 | RYR1 | c.10940C>G (n.10940C>G) c.11001C>G (p.His3667Gln) c.10986C>G (p.His3662Gln) c.10983C>G (p.His3661Gln) c.4388C>G c.1808C>G c.282C>G (p.His94Gln) c.10998C>G (p.His3666Gln) | |
19 | g.38528662C>T | CA507354559 | RYR1 | c.10940C>T (n.10940C>T) c.11001C>T (p.His3667=) c.10986C>T (p.His3662=) c.10983C>T (p.His3661=) c.4388C>T c.1808C>T c.282C>T (p.His94=) c.10998C>T (p.His3666=) | |
19 | g.38528663A= | CA2335067481 | RYR1 | c.10941A= (n.10941A=) c.11002A= (p.Ser3668=) c.10987A= (p.Ser3663=) c.10984A= (p.Ser3662=) c.4389A= c.1809A= c.283A= (p.Ser95=) c.10999A= (p.Ser3667=) | |
19 | g.38528663A>C | CA405649811 | RYR1 | c.10941A>C (n.10941A>C) c.11002A>C (p.Ser3668Arg) c.10987A>C (p.Ser3663Arg) c.10984A>C (p.Ser3662Arg) c.4389A>C c.1809A>C c.283A>C (p.Ser95Arg) c.10999A>C (p.Ser3667Arg) | |
19 | g.38528663A>G | CA055537 | RYR1 | c.10941A>G (n.10941A>G) c.11002A>G (p.Ser3668Gly) c.10987A>G (p.Ser3663Gly) c.10984A>G (p.Ser3662Gly) c.4389A>G c.1809A>G c.283A>G (p.Ser95Gly) c.10999A>G (p.Ser3667Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38528663A>T | CA405649812 | RYR1 | c.10941A>T (n.10941A>T) c.11002A>T (p.Ser3668Cys) c.10987A>T (p.Ser3663Cys) c.10984A>T (p.Ser3662Cys) c.4389A>T c.1809A>T c.283A>T (p.Ser95Cys) c.10999A>T (p.Ser3667Cys) | gnomAD v4 |
19 | g.38528664G>A | CA405649815 | RYR1 | c.10942G>A (n.10942G>A) c.11003G>A (p.Ser3668Asn) c.10988G>A (p.Ser3663Asn) c.10985G>A (p.Ser3662Asn) c.4390G>A c.1810G>A c.284G>A (p.Ser95Asn) c.11000G>A (p.Ser3667Asn) | |
19 | g.38528664G>C | CA405649814 | RYR1 | c.10942G>C (n.10942G>C) c.11003G>C (p.Ser3668Thr) c.10988G>C (p.Ser3663Thr) c.10985G>C (p.Ser3662Thr) c.4390G>C c.1810G>C c.284G>C (p.Ser95Thr) c.11000G>C (p.Ser3667Thr) | |
19 | g.38528664G>T | CA405649813 | RYR1 | c.10942G>T (n.10942G>T) c.11003G>T (p.Ser3668Ile) c.10988G>T (p.Ser3663Ile) c.10985G>T (p.Ser3662Ile) c.4390G>T c.1810G>T c.284G>T (p.Ser95Ile) c.11000G>T (p.Ser3667Ile) | |
19 | g.38528665T>A | CA405649816 | RYR1 | c.10943T>A (n.10943T>A) c.11004T>A (p.Ser3668Arg) c.10989T>A (p.Ser3663Arg) c.10986T>A (p.Ser3662Arg) c.4391T>A c.1811T>A c.285T>A (p.Ser95Arg) c.11001T>A (p.Ser3667Arg) | |
19 | g.38528665T>C | CA507354560 | RYR1 | c.10943T>C (n.10943T>C) c.11004T>C (p.Ser3668=) c.10989T>C (p.Ser3663=) c.10986T>C (p.Ser3662=) c.4391T>C c.1811T>C c.285T>C (p.Ser95=) c.11001T>C (p.Ser3667=) | |
19 | g.38528665T>G | CA405649817 | RYR1 | c.10943T>G (n.10943T>G) c.11004T>G (p.Ser3668Arg) c.10989T>G (p.Ser3663Arg) c.10986T>G (p.Ser3662Arg) c.4391T>G c.1811T>G c.285T>G (p.Ser95Arg) c.11001T>G (p.Ser3667Arg) | |
19 | g.38528666T>A | CA405649818 | RYR1 | c.10944T>A (n.10944T>A) c.11005T>A (p.Phe3669Ile) c.10990T>A (p.Phe3664Ile) c.10987T>A (p.Phe3663Ile) c.4392T>A c.1812T>A c.286T>A (p.Phe96Ile) c.11002T>A (p.Phe3668Ile) | |
19 | g.38528666T>C | CA405649819 | RYR1 | c.10944T>C (n.10944T>C) c.11005T>C (p.Phe3669Leu) c.10990T>C (p.Phe3664Leu) c.10987T>C (p.Phe3663Leu) c.4392T>C c.1812T>C c.286T>C (p.Phe96Leu) c.11002T>C (p.Phe3668Leu) | |
19 | g.38528666T>G | CA405649820 | RYR1 | c.10944T>G (n.10944T>G) c.11005T>G (p.Phe3669Val) c.10990T>G (p.Phe3664Val) c.10987T>G (p.Phe3663Val) c.4392T>G c.1812T>G c.286T>G (p.Phe96Val) c.11002T>G (p.Phe3668Val) | |
19 | g.38528667T>A | CA405649821 | RYR1 | c.10945T>A (n.10945T>A) c.11006T>A (p.Phe3669Tyr) c.10991T>A (p.Phe3664Tyr) c.10988T>A (p.Phe3663Tyr) c.4393T>A c.1813T>A c.287T>A (p.Phe96Tyr) c.11003T>A (p.Phe3668Tyr) | |
19 | g.38528667T>C | CA405649822 | RYR1 | c.10945T>C (n.10945T>C) c.11006T>C (p.Phe3669Ser) c.10991T>C (p.Phe3664Ser) c.10988T>C (p.Phe3663Ser) c.4393T>C c.1813T>C c.287T>C (p.Phe96Ser) c.11003T>C (p.Phe3668Ser) | |
19 | g.38528667T>G | CA405649823 | RYR1 | c.10945T>G (n.10945T>G) c.11006T>G (p.Phe3669Cys) c.10991T>G (p.Phe3664Cys) c.10988T>G (p.Phe3663Cys) c.4393T>G c.1813T>G c.287T>G (p.Phe96Cys) c.11003T>G (p.Phe3668Cys) | gnomAD v4 |
19 | g.38528668T>A | CA405649824 | RYR1 | c.10946T>A (n.10946T>A) c.11007T>A (p.Phe3669Leu) c.10992T>A (p.Phe3664Leu) c.10989T>A (p.Phe3663Leu) c.4394T>A c.1814T>A c.288T>A (p.Phe96Leu) c.11004T>A (p.Phe3668Leu) | |
19 | g.38528668T>C | CA507354562 | RYR1 | c.10946T>C (n.10946T>C) c.11007T>C (p.Phe3669=) c.10992T>C (p.Phe3664=) c.10989T>C (p.Phe3663=) c.4394T>C c.1814T>C c.288T>C (p.Phe96=) c.11004T>C (p.Phe3668=) | |
19 | g.38528668T>G | CA405649825 | RYR1 | c.10946T>G (n.10946T>G) c.11007T>G (p.Phe3669Leu) c.10992T>G (p.Phe3664Leu) c.10989T>G (p.Phe3663Leu) c.4394T>G c.1814T>G c.288T>G (p.Phe96Leu) c.11004T>G (p.Phe3668Leu) | |
19 | g.38528669G>A | CA405649826 | RYR1 | c.10947G>A (n.10947G>A) c.11008G>A (p.Glu3670Lys) c.10993G>A (p.Glu3665Lys) c.10990G>A (p.Glu3664Lys) c.4395G>A c.1815G>A c.289G>A (p.Glu97Lys) c.11005G>A (p.Glu3669Lys) | |
19 | g.38528669G>C | CA405649827 | RYR1 | c.10947G>C (n.10947G>C) c.11008G>C (p.Glu3670Gln) c.10993G>C (p.Glu3665Gln) c.10990G>C (p.Glu3664Gln) c.4395G>C c.1815G>C c.289G>C (p.Glu97Gln) c.11005G>C (p.Glu3669Gln) | |
19 | g.38528669G>T | CA405649828 | RYR1 | c.10947G>T (n.10947G>T) c.11008G>T (p.Glu3670Ter) c.10993G>T (p.Glu3665Ter) c.10990G>T (p.Glu3664Ter) c.4395G>T c.1815G>T c.289G>T (p.Glu97Ter) c.11005G>T (p.Glu3669Ter) | |
19 | g.38528670A>C | CA405649829 | RYR1 | c.10948A>C (n.10948A>C) c.11009A>C (p.Glu3670Ala) c.10994A>C (p.Glu3665Ala) c.10991A>C (p.Glu3664Ala) c.4396A>C c.1816A>C c.290A>C (p.Glu97Ala) c.11006A>C (p.Glu3669Ala) | |
19 | g.38528670A>G | CA405649830 | RYR1 | c.10948A>G (n.10948A>G) c.11009A>G (p.Glu3670Gly) c.10994A>G (p.Glu3665Gly) c.10991A>G (p.Glu3664Gly) c.4396A>G c.1816A>G c.290A>G (p.Glu97Gly) c.11006A>G (p.Glu3669Gly) | |
19 | g.38528670A>T | CA405649831 | RYR1 | c.10948A>T (n.10948A>T) c.11009A>T (p.Glu3670Val) c.10994A>T (p.Glu3665Val) c.10991A>T (p.Glu3664Val) c.4396A>T c.1816A>T c.290A>T (p.Glu97Val) c.11006A>T (p.Glu3669Val) | |
19 | g.38528671G>A | CA507354563 | RYR1 | c.10949G>A (n.10949G>A) c.11010G>A (p.Glu3670=) c.10995G>A (p.Glu3665=) c.10992G>A (p.Glu3664=) c.4397G>A c.1817G>A c.291G>A (p.Glu97=) c.11007G>A (p.Glu3669=) | gnomAD v4 |
19 | g.38528671G>C | CA405649833 | RYR1 | c.10949G>C (n.10949G>C) c.11010G>C (p.Glu3670Asp) c.10995G>C (p.Glu3665Asp) c.10992G>C (p.Glu3664Asp) c.4397G>C c.1817G>C c.291G>C (p.Glu97Asp) c.11007G>C (p.Glu3669Asp) | |
19 | g.38528671G>T | CA405649832 | RYR1 | c.10949G>T (n.10949G>T) c.11010G>T (p.Glu3670Asp) c.10995G>T (p.Glu3665Asp) c.10992G>T (p.Glu3664Asp) c.4397G>T c.1817G>T c.291G>T (p.Glu97Asp) c.11007G>T (p.Glu3669Asp) | |
19 | g.38528672G>A | CA405649834 | RYR1 | c.10950G>A (n.10950G>A) c.11011G>A (p.Asp3671Asn) c.10996G>A (p.Asp3666Asn) c.10993G>A (p.Asp3665Asn) c.4398G>A c.1818G>A c.292G>A (p.Asp98Asn) c.11008G>A (p.Asp3670Asn) | gnomAD v4 |
19 | g.38528672G>C | CA405649835 | RYR1 | c.10950G>C (n.10950G>C) c.11011G>C (p.Asp3671His) c.10996G>C (p.Asp3666His) c.10993G>C (p.Asp3665His) c.4398G>C c.1818G>C c.292G>C (p.Asp98His) c.11008G>C (p.Asp3670His) | |
19 | g.38528672G>T | CA405649836 | RYR1 | c.10950G>T (n.10950G>T) c.11011G>T (p.Asp3671Tyr) c.10996G>T (p.Asp3666Tyr) c.10993G>T (p.Asp3665Tyr) c.4398G>T c.1818G>T c.292G>T (p.Asp98Tyr) c.11008G>T (p.Asp3670Tyr) | |
19 | g.38528673A>C | CA405649837 | RYR1 | c.10951A>C (n.10951A>C) c.11012A>C (p.Asp3671Ala) c.10997A>C (p.Asp3666Ala) c.10994A>C (p.Asp3665Ala) c.4399A>C c.1819A>C c.293A>C (p.Asp98Ala) c.11009A>C (p.Asp3670Ala) | |
19 | g.38528673A>G | CA405649838 | RYR1 | c.10951A>G (n.10951A>G) c.11012A>G (p.Asp3671Gly) c.10997A>G (p.Asp3666Gly) c.10994A>G (p.Asp3665Gly) c.4399A>G c.1819A>G c.293A>G (p.Asp98Gly) c.11009A>G (p.Asp3670Gly) | |
19 | g.38528673A>T | CA405649839 | RYR1 | c.10951A>T (n.10951A>T) c.11012A>T (p.Asp3671Val) c.10997A>T (p.Asp3666Val) c.10994A>T (p.Asp3665Val) c.4399A>T c.1819A>T c.293A>T (p.Asp98Val) c.11009A>T (p.Asp3670Val) | |
19 | g.38528674C>A | CA405649841 | RYR1 | c.10952C>A (n.10952C>A) c.11013C>A (p.Asp3671Glu) c.10998C>A (p.Asp3666Glu) c.10995C>A (p.Asp3665Glu) c.4400C>A c.1820C>A c.294C>A (p.Asp98Glu) c.11010C>A (p.Asp3670Glu) | |
19 | g.38528674C>G | CA405649840 | RYR1 | c.10952C>G (n.10952C>G) c.11013C>G (p.Asp3671Glu) c.10998C>G (p.Asp3666Glu) c.10995C>G (p.Asp3665Glu) c.4400C>G c.1820C>G c.294C>G (p.Asp98Glu) c.11010C>G (p.Asp3670Glu) | |
19 | g.38528674C>T | CA507354566 | RYR1 | c.10952C>T (n.10952C>T) c.11013C>T (p.Asp3671=) c.10998C>T (p.Asp3666=) c.10995C>T (p.Asp3665=) c.4400C>T c.1820C>T c.294C>T (p.Asp98=) c.11010C>T (p.Asp3670=) | gnomAD v4 |
19 | g.38528675C>A | CA080136 | RYR1 | c.10953C>A (n.10953C>A) c.11014C>A (p.Arg3672Ser) c.10999C>A (p.Arg3667Ser) c.10996C>A (p.Arg3666Ser) c.4401C>A c.1821C>A c.295C>A (p.Arg99Ser) c.11011C>A (p.Arg3671Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528675C= | CA2335067482 | RYR1 | c.10953C= (n.10953C=) c.11014C= (p.Arg3672=) c.10999C= (p.Arg3667=) c.10996C= (p.Arg3666=) c.4401C= c.1821C= c.295C= (p.Arg99=) c.11011C= (p.Arg3671=) | |
19 | g.38528675C>G | CA405649842 | RYR1 | c.10953C>G (n.10953C>G) c.11014C>G (p.Arg3672Gly) c.10999C>G (p.Arg3667Gly) c.10996C>G (p.Arg3666Gly) c.4401C>G c.1821C>G c.295C>G (p.Arg99Gly) c.11011C>G (p.Arg3671Gly) | dbSNP |
19 | g.38528675C>T | CA405649843 | RYR1 | c.10953C>T (n.10953C>T) c.11014C>T (p.Arg3672Cys) c.10999C>T (p.Arg3667Cys) c.10996C>T (p.Arg3666Cys) c.4401C>T c.1821C>T c.295C>T (p.Arg99Cys) c.11011C>T (p.Arg3671Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38528676del | CA2576771766 | RYR1 | c.10954del (n.10954del) c.11015del (p.Arg3672ProfsTer2) c.11000del (p.Arg3667ProfsTer2) c.10997del (p.Arg3666ProfsTer2) c.4402del c.1822del c.296del (p.Arg99ProfsTer2) c.11012del (p.Arg3671ProfsTer2) | |
19 | g.38528676G>A | CA055559 | RYR1 | c.10954G>A (n.10954G>A) c.11015G>A (p.Arg3672His) c.11000G>A (p.Arg3667His) c.10997G>A (p.Arg3666His) c.4402G>A c.1822G>A c.296G>A (p.Arg99His) c.11012G>A (p.Arg3671His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38528676G>C | CA405649844 | RYR1 | c.10954G>C (n.10954G>C) c.11015G>C (p.Arg3672Pro) c.11000G>C (p.Arg3667Pro) c.10997G>C (p.Arg3666Pro) c.4402G>C c.1822G>C c.296G>C (p.Arg99Pro) c.11012G>C (p.Arg3671Pro) | |
19 | g.38528676G= | CA2335067483 | RYR1 | c.10954G= (n.10954G=) c.11015G= (p.Arg3672=) c.11000G= (p.Arg3667=) c.10997G= (p.Arg3666=) c.4402G= c.1822G= c.296G= (p.Arg99=) c.11012G= (p.Arg3671=) | |
19 | g.38528676G>T | CA405649845 | RYR1 | c.10954G>T (n.10954G>T) c.11015G>T (p.Arg3672Leu) c.11000G>T (p.Arg3667Leu) c.10997G>T (p.Arg3666Leu) c.4402G>T c.1822G>T c.296G>T (p.Arg99Leu) c.11012G>T (p.Arg3671Leu) | |
19 | g.38528677C>A | CA507354569 | RYR1 | c.10955C>A (n.10955C>A) c.11016C>A (p.Arg3672=) c.11001C>A (p.Arg3667=) c.10998C>A (p.Arg3666=) c.4403C>A c.1823C>A c.297C>A (p.Arg99=) c.11013C>A (p.Arg3671=) | |
19 | g.38528677C>G | CA507354567 | RYR1 | c.10955C>G (n.10955C>G) c.11016C>G (p.Arg3672=) c.11001C>G (p.Arg3667=) c.10998C>G (p.Arg3666=) c.4403C>G c.1823C>G c.297C>G (p.Arg99=) c.11013C>G (p.Arg3671=) | |
19 | g.38528677C>T | CA507354568 | RYR1 | c.10955C>T (n.10955C>T) c.11016C>T (p.Arg3672=) c.11001C>T (p.Arg3667=) c.10998C>T (p.Arg3666=) c.4403C>T c.1823C>T c.297C>T (p.Arg99=) c.11013C>T (p.Arg3671=) | ClinVar |
19 | g.38528678A>C | CA405649846 | RYR1 | c.10956A>C (n.10956A>C) c.11017A>C (p.Met3673Leu) c.11002A>C (p.Met3668Leu) c.10999A>C (p.Met3667Leu) c.4404A>C c.1824A>C c.298A>C (p.Met100Leu) c.11014A>C (p.Met3672Leu) | |
19 | g.38528678A>G | CA405649848 | RYR1 | c.10956A>G (n.10956A>G) c.11017A>G (p.Met3673Val) c.11002A>G (p.Met3668Val) c.10999A>G (p.Met3667Val) c.4404A>G c.1824A>G c.298A>G (p.Met100Val) c.11014A>G (p.Met3672Val) | gnomAD v3 gnomAD v4 |
19 | g.38528678A>T | CA405649847 | RYR1 | c.10956A>T (n.10956A>T) c.11017A>T (p.Met3673Leu) c.11002A>T (p.Met3668Leu) c.10999A>T (p.Met3667Leu) c.4404A>T c.1824A>T c.298A>T (p.Met100Leu) c.11014A>T (p.Met3672Leu) | |
19 | g.38528679T>A | CA405649849 | RYR1 | c.10957T>A (n.10957T>A) c.11018T>A (p.Met3673Lys) c.11003T>A (p.Met3668Lys) c.11000T>A (p.Met3667Lys) c.4405T>A c.1825T>A c.299T>A (p.Met100Lys) c.11015T>A (p.Met3672Lys) | |
19 | g.38528679T>C | CA405649850 | RYR1 | c.10957T>C (n.10957T>C) c.11018T>C (p.Met3673Thr) c.11003T>C (p.Met3668Thr) c.11000T>C (p.Met3667Thr) c.4405T>C c.1825T>C c.299T>C (p.Met100Thr) c.11015T>C (p.Met3672Thr) | gnomAD v4 |
19 | g.38528679T>G | CA405649851 | RYR1 | c.10957T>G (n.10957T>G) c.11018T>G (p.Met3673Arg) c.11003T>G (p.Met3668Arg) c.11000T>G (p.Met3667Arg) c.4405T>G c.1825T>G c.299T>G (p.Met100Arg) c.11015T>G (p.Met3672Arg) | |
19 | g.38528680G>A | CA405649852 | RYR1 | c.10958G>A (n.10958G>A) c.11019G>A (p.Met3673Ile) c.11004G>A (p.Met3668Ile) c.11001G>A (p.Met3667Ile) c.4406G>A c.1826G>A c.300G>A (p.Met100Ile) c.11016G>A (p.Met3672Ile) | |
19 | g.38528680G>C | CA405649853 | RYR1 | c.10958G>C (n.10958G>C) c.11019G>C (p.Met3673Ile) c.11004G>C (p.Met3668Ile) c.11001G>C (p.Met3667Ile) c.4406G>C c.1826G>C c.300G>C (p.Met100Ile) c.11016G>C (p.Met3672Ile) | |
19 | g.38528680G>T | CA405649854 | RYR1 | c.10958G>T (n.10958G>T) c.11019G>T (p.Met3673Ile) c.11004G>T (p.Met3668Ile) c.11001G>T (p.Met3667Ile) c.4406G>T c.1826G>T c.300G>T (p.Met100Ile) c.11016G>T (p.Met3672Ile) | |
19 | g.38528683_38528686del | CA2584906320 | RYR1 | c.10961_10964del (n.10961_10964del) c.11022_11025del (p.Ile3674MetfsTer?) c.11007_11010del (p.Ile3669MetfsTer?) c.11004_11007del (p.Ile3668MetfsTer?) c.4409_4412del c.1829_1832del c.303_306del (p.Ile101MetfsTer?) c.11019_11022del (p.Ile3673MetfsTer?) | gnomAD v4 |
19 | g.38528681A= | CA2335067484 | RYR1 | c.10959A= (n.10959A=) c.11020A= (p.Ile3674=) c.11005A= (p.Ile3669=) c.11002A= (p.Ile3668=) c.4407A= c.1827A= c.301A= (p.Ile101=) c.11017A= (p.Ile3673=) | |
19 | g.38528681A>C | CA405649855 | RYR1 | c.10959A>C (n.10959A>C) c.11020A>C (p.Ile3674Leu) c.11005A>C (p.Ile3669Leu) c.11002A>C (p.Ile3668Leu) c.4407A>C c.1827A>C c.301A>C (p.Ile101Leu) c.11017A>C (p.Ile3673Leu) | |
19 | g.38528681A>G | CA080138 | RYR1 | c.10959A>G (n.10959A>G) c.11020A>G (p.Ile3674Val) c.11005A>G (p.Ile3669Val) c.11002A>G (p.Ile3668Val) c.4407A>G c.1827A>G c.301A>G (p.Ile101Val) c.11017A>G (p.Ile3673Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38528681A>T | CA405649856 | RYR1 | c.10959A>T (n.10959A>T) c.11020A>T (p.Ile3674Leu) c.11005A>T (p.Ile3669Leu) c.11002A>T (p.Ile3668Leu) c.4407A>T c.1827A>T c.301A>T (p.Ile101Leu) c.11017A>T (p.Ile3673Leu) | |
19 | g.38528682T>A | CA405649857 | RYR1 | c.10960T>A (n.10960T>A) c.11021T>A (p.Ile3674Lys) c.11006T>A (p.Ile3669Lys) c.11003T>A (p.Ile3668Lys) c.4408T>A c.1828T>A c.302T>A (p.Ile101Lys) c.11018T>A (p.Ile3673Lys) | |
19 | g.38528682T>C | CA055572 | RYR1 | c.10960T>C (n.10960T>C) c.11021T>C (p.Ile3674Thr) c.11006T>C (p.Ile3669Thr) c.11003T>C (p.Ile3668Thr) c.4408T>C c.1828T>C c.302T>C (p.Ile101Thr) c.11018T>C (p.Ile3673Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528682T>G | CA405649858 | RYR1 | c.10960T>G (n.10960T>G) c.11021T>G (p.Ile3674Arg) c.11006T>G (p.Ile3669Arg) c.11003T>G (p.Ile3668Arg) c.4408T>G c.1828T>G c.302T>G (p.Ile101Arg) c.11018T>G (p.Ile3673Arg) | |
19 | g.38528682T= | CA2335067485 | RYR1 | c.10960T= (n.10960T=) c.11021T= (p.Ile3674=) c.11006T= (p.Ile3669=) c.11003T= (p.Ile3668=) c.4408T= c.1828T= c.302T= (p.Ile101=) c.11018T= (p.Ile3673=) | |
19 | g.38528682_38528685delinsTAGA | CA2335067486 | RYR1 | c.10960_10963delinsTAGA (n.10960_10963delinsTAGA) c.11021_11024delinsTAGA (p.Ile3674=) c.11006_11009delinsTAGA (p.Ile3669=) c.11003_11006delinsTAGA (p.Ile3668=) c.4408_4411delinsTAGA c.1828_1831delinsTAGA c.302_305delinsTAGA (p.Ile101=) c.11018_11021delinsTAGA (p.Ile3673=) | |
19 | g.38528683A>C | CA507354572 | RYR1 | c.10961A>C (n.10961A>C) c.11022A>C (p.Ile3674=) c.11007A>C (p.Ile3669=) c.11004A>C (p.Ile3668=) c.4409A>C c.1829A>C c.303A>C (p.Ile101=) c.11019A>C (p.Ile3673=) | |
19 | g.38528683A>G | CA405649859 | RYR1 | c.10961A>G (n.10961A>G) c.11022A>G (p.Ile3674Met) c.11007A>G (p.Ile3669Met) c.11004A>G (p.Ile3668Met) c.4409A>G c.1829A>G c.303A>G (p.Ile101Met) c.11019A>G (p.Ile3673Met) | |
19 | g.38528683A>T | CA507354574 | RYR1 | c.10961A>T (n.10961A>T) c.11022A>T (p.Ile3674=) c.11007A>T (p.Ile3669=) c.11004A>T (p.Ile3668=) c.4409A>T c.1829A>T c.303A>T (p.Ile101=) c.11019A>T (p.Ile3673=) | |
19 | g.38528683_38528685del | CA633066711 | RYR1 | c.10961_10963del (n.10961_10963del) c.11022_11024del (p.Asp3675del) c.11007_11009del (p.Asp3670del) c.11004_11006del (p.Asp3669del) c.4409_4411del c.1829_1831del c.303_305del (p.Asp102del) c.11019_11021del (p.Asp3674del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38528684G>A | CA055577 | RYR1 | c.10962G>A (n.10962G>A) c.11023G>A (p.Asp3675Asn) c.11008G>A (p.Asp3670Asn) c.11005G>A (p.Asp3669Asn) c.4410G>A c.1830G>A c.304G>A (p.Asp102Asn) c.11020G>A (p.Asp3674Asn) | dbSNP ExAC gnomAD v2 |
19 | g.38528684G>C | CA055581 | RYR1 | c.10962G>C (n.10962G>C) c.11023G>C (p.Asp3675His) c.11008G>C (p.Asp3670His) c.11005G>C (p.Asp3669His) c.4410G>C c.1830G>C c.304G>C (p.Asp102His) c.11020G>C (p.Asp3674His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528684G= | CA2335067487 | RYR1 | c.10962G= (n.10962G=) c.11023G= (p.Asp3675=) c.11008G= (p.Asp3670=) c.11005G= (p.Asp3669=) c.4410G= c.1830G= c.304G= (p.Asp102=) c.11020G= (p.Asp3674=) | |
19 | g.38528684G>T | CA405649860 | RYR1 | c.10962G>T (n.10962G>T) c.11023G>T (p.Asp3675Tyr) c.11008G>T (p.Asp3670Tyr) c.11005G>T (p.Asp3669Tyr) c.4410G>T c.1830G>T c.304G>T (p.Asp102Tyr) c.11020G>T (p.Asp3674Tyr) | |
19 | g.38528685A>C | CA405649861 | RYR1 | c.10963A>C (n.10963A>C) c.11024A>C (p.Asp3675Ala) c.11009A>C (p.Asp3670Ala) c.11006A>C (p.Asp3669Ala) c.4411A>C c.1831A>C c.305A>C (p.Asp102Ala) c.11021A>C (p.Asp3674Ala) | |
19 | g.38528685A>G | CA405649862 | RYR1 | c.10963A>G (n.10963A>G) c.11024A>G (p.Asp3675Gly) c.11009A>G (p.Asp3670Gly) c.11006A>G (p.Asp3669Gly) c.4411A>G c.1831A>G c.305A>G (p.Asp102Gly) c.11021A>G (p.Asp3674Gly) | ClinVar gnomAD v4 |
19 | g.38528685A>T | CA405649863 | RYR1 | c.10963A>T (n.10963A>T) c.11024A>T (p.Asp3675Val) c.11009A>T (p.Asp3670Val) c.11006A>T (p.Asp3669Val) c.4411A>T c.1831A>T c.305A>T (p.Asp102Val) c.11021A>T (p.Asp3674Val) | |
19 | g.38528686T>A | CA405649864 | RYR1 | c.10964T>A (n.10964T>A) c.11025T>A (p.Asp3675Glu) c.11010T>A (p.Asp3670Glu) c.11007T>A (p.Asp3669Glu) c.4412T>A c.1832T>A c.306T>A (p.Asp102Glu) c.11022T>A (p.Asp3674Glu) | |
19 | g.38528686T>C | CA507354576 | RYR1 | c.10964T>C (n.10964T>C) c.11025T>C (p.Asp3675=) c.11010T>C (p.Asp3670=) c.11007T>C (p.Asp3669=) c.4412T>C c.1832T>C c.306T>C (p.Asp102=) c.11022T>C (p.Asp3674=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38528686T>G | CA405649865 | RYR1 | c.10964T>G (n.10964T>G) c.11025T>G (p.Asp3675Glu) c.11010T>G (p.Asp3670Glu) c.11007T>G (p.Asp3669Glu) c.4412T>G c.1832T>G c.306T>G (p.Asp102Glu) c.11022T>G (p.Asp3674Glu) | |
19 | g.38528686T= | CA2335067488 | RYR1 | c.10964T= (n.10964T=) c.11025T= (p.Asp3675=) c.11010T= (p.Asp3670=) c.11007T= (p.Asp3669=) c.4412T= c.1832T= c.306T= (p.Asp102=) c.11022T= (p.Asp3674=) | |
19 | g.38528687G>A | CA405649866 | RYR1 | c.10965G>A (n.10965G>A) c.11026G>A (p.Asp3676Asn) c.11011G>A (p.Asp3671Asn) c.11008G>A (p.Asp3670Asn) c.4413G>A c.1833G>A c.307G>A (p.Asp103Asn) c.11023G>A (p.Asp3675Asn) | |
19 | g.38528687G>C | CA405649867 | RYR1 | c.10965G>C (n.10965G>C) c.11026G>C (p.Asp3676His) c.11011G>C (p.Asp3671His) c.11008G>C (p.Asp3670His) c.4413G>C c.1833G>C c.307G>C (p.Asp103His) c.11023G>C (p.Asp3675His) | |
19 | g.38528687G= | CA2335067489 | RYR1 | c.10965G= (n.10965G=) c.11026G= (p.Asp3676=) c.11011G= (p.Asp3671=) c.11008G= (p.Asp3670=) c.4413G= c.1833G= c.307G= (p.Asp103=) c.11023G= (p.Asp3675=) | |
19 | g.38528687G>T | CA308082066 | RYR1 | c.10965G>T (n.10965G>T) c.11026G>T (p.Asp3676Tyr) c.11011G>T (p.Asp3671Tyr) c.11008G>T (p.Asp3670Tyr) c.4413G>T c.1833G>T c.307G>T (p.Asp103Tyr) c.11023G>T (p.Asp3675Tyr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38528688A>C | CA405649868 | RYR1 | c.10966A>C (n.10966A>C) c.11027A>C (p.Asp3676Ala) c.11012A>C (p.Asp3671Ala) c.11009A>C (p.Asp3670Ala) c.4414A>C c.1834A>C c.308A>C (p.Asp103Ala) c.11024A>C (p.Asp3675Ala) | |
19 | g.38528688A>G | CA405649869 | RYR1 | c.10966A>G (n.10966A>G) c.11027A>G (p.Asp3676Gly) c.11012A>G (p.Asp3671Gly) c.11009A>G (p.Asp3670Gly) c.4414A>G c.1834A>G c.308A>G (p.Asp103Gly) c.11024A>G (p.Asp3675Gly) | |
19 | g.38528688A>T | CA405649870 | RYR1 | c.10966A>T (n.10966A>T) c.11027A>T (p.Asp3676Val) c.11012A>T (p.Asp3671Val) c.11009A>T (p.Asp3670Val) c.4414A>T c.1834A>T c.308A>T (p.Asp103Val) c.11024A>T (p.Asp3675Val) | |
19 | g.38528689C>A | CA405649872 | RYR1 | c.10967C>A (n.10967C>A) c.11028C>A (p.Asp3676Glu) c.11013C>A (p.Asp3671Glu) c.11010C>A (p.Asp3670Glu) c.4415C>A c.1835C>A c.309C>A (p.Asp103Glu) c.11025C>A (p.Asp3675Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38528689C= | CA2335067490 | RYR1 | c.10967C= (n.10967C=) c.11028C= (p.Asp3676=) c.11013C= (p.Asp3671=) c.11010C= (p.Asp3670=) c.4415C= c.1835C= c.309C= (p.Asp103=) c.11025C= (p.Asp3675=) | |
19 | g.38528689C>G | CA405649871 | RYR1 | c.10967C>G (n.10967C>G) c.11028C>G (p.Asp3676Glu) c.11013C>G (p.Asp3671Glu) c.11010C>G (p.Asp3670Glu) c.4415C>G c.1835C>G c.309C>G (p.Asp103Glu) c.11025C>G (p.Asp3675Glu) | |
19 | g.38528689C>T | CA507354578 | RYR1 | c.10967C>T (n.10967C>T) c.11028C>T (p.Asp3676=) c.11013C>T (p.Asp3671=) c.11010C>T (p.Asp3670=) c.4415C>T c.1835C>T c.309C>T (p.Asp103=) c.11025C>T (p.Asp3675=) | gnomAD v4 |
19 | g.38528690C>A | CA405649873 | RYR1 | c.10968C>A (n.10968C>A) c.11029C>A (p.Leu3677Ile) c.11014C>A (p.Leu3672Ile) c.11011C>A (p.Leu3671Ile) c.4416C>A c.1836C>A c.310C>A (p.Leu104Ile) c.11026C>A (p.Leu3676Ile) | gnomAD v4 |
19 | g.38528690C>G | CA405649875 | RYR1 | c.10968C>G (n.10968C>G) c.11029C>G (p.Leu3677Val) c.11014C>G (p.Leu3672Val) c.11011C>G (p.Leu3671Val) c.4416C>G c.1836C>G c.310C>G (p.Leu104Val) c.11026C>G (p.Leu3676Val) | |
19 | g.38528690C>T | CA405649874 | RYR1 | c.10968C>T (n.10968C>T) c.11029C>T (p.Leu3677Phe) c.11014C>T (p.Leu3672Phe) c.11011C>T (p.Leu3671Phe) c.4416C>T c.1836C>T c.310C>T (p.Leu104Phe) c.11026C>T (p.Leu3676Phe) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38528691T>A | CA405649876 | RYR1 | c.10969T>A (n.10969T>A) c.11030T>A (p.Leu3677His) c.11015T>A (p.Leu3672His) c.11012T>A (p.Leu3671His) c.4417T>A c.1837T>A c.311T>A (p.Leu104His) c.11027T>A (p.Leu3676His) | |
19 | g.38528691T>C | CA405649877 | RYR1 | c.10969T>C (n.10969T>C) c.11030T>C (p.Leu3677Pro) c.11015T>C (p.Leu3672Pro) c.11012T>C (p.Leu3671Pro) c.4417T>C c.1837T>C c.311T>C (p.Leu104Pro) c.11027T>C (p.Leu3676Pro) | |
19 | g.38528691T>G | CA405649878 | RYR1 | c.10969T>G (n.10969T>G) c.11030T>G (p.Leu3677Arg) c.11015T>G (p.Leu3672Arg) c.11012T>G (p.Leu3671Arg) c.4417T>G c.1837T>G c.311T>G (p.Leu104Arg) c.11027T>G (p.Leu3676Arg) | |
19 | g.38528692T>A | CA507354580 | RYR1 | c.10970T>A (n.10970T>A) c.11031T>A (p.Leu3677=) c.11016T>A (p.Leu3672=) c.11013T>A (p.Leu3671=) c.4418T>A c.1838T>A c.312T>A (p.Leu104=) c.11028T>A (p.Leu3676=) | ClinVar dbSNP |
19 | g.38528692T>C | CA507354581 | RYR1 | c.10970T>C (n.10970T>C) c.11031T>C (p.Leu3677=) c.11016T>C (p.Leu3672=) c.11013T>C (p.Leu3671=) c.4418T>C c.1838T>C c.312T>C (p.Leu104=) c.11028T>C (p.Leu3676=) | |
19 | g.38528692T>G | CA507354582 | RYR1 | c.10970T>G (n.10970T>G) c.11031T>G (p.Leu3677=) c.11016T>G (p.Leu3672=) c.11013T>G (p.Leu3671=) c.4418T>G c.1838T>G c.312T>G (p.Leu104=) c.11028T>G (p.Leu3676=) | |
19 | g.38528692T= | CA2335067491 | RYR1 | c.10970T= (n.10970T=) c.11031T= (p.Leu3677=) c.11016T= (p.Leu3672=) c.11013T= (p.Leu3671=) c.4418T= c.1838T= c.312T= (p.Leu104=) c.11028T= (p.Leu3676=) | |
19 | g.38528693T>A | CA405649879 | RYR1 | c.10971T>A (n.10971T>A) c.11032T>A (p.Ser3678Thr) c.11017T>A (p.Ser3673Thr) c.11014T>A (p.Ser3672Thr) c.4419T>A c.1839T>A c.313T>A (p.Ser105Thr) c.11029T>A (p.Ser3677Thr) | |
19 | g.38528693T>C | CA405649880 | RYR1 | c.10971T>C (n.10971T>C) c.11032T>C (p.Ser3678Pro) c.11017T>C (p.Ser3673Pro) c.11014T>C (p.Ser3672Pro) c.4419T>C c.1839T>C c.313T>C (p.Ser105Pro) c.11029T>C (p.Ser3677Pro) | |
19 | g.38528693T>G | CA405649881 | RYR1 | c.10971T>G (n.10971T>G) c.11032T>G (p.Ser3678Ala) c.11017T>G (p.Ser3673Ala) c.11014T>G (p.Ser3672Ala) c.4419T>G c.1839T>G c.313T>G (p.Ser105Ala) c.11029T>G (p.Ser3677Ala) | |
19 | g.38528694C>A | CA405649882 | RYR1 | c.10972C>A (n.10972C>A) c.11033C>A (p.Ser3678Ter) c.11018C>A (p.Ser3673Ter) c.11015C>A (p.Ser3672Ter) c.4420C>A c.1840C>A c.314C>A (p.Ser105Ter) c.11030C>A (p.Ser3677Ter) | |
19 | g.38528694C>G | CA405649883 | RYR1 | c.10972C>G (n.10972C>G) c.11033C>G (p.Ser3678Ter) c.11018C>G (p.Ser3673Ter) c.11015C>G (p.Ser3672Ter) c.4420C>G c.1840C>G c.314C>G (p.Ser105Ter) c.11030C>G (p.Ser3677Ter) | |
19 | g.38528694C>T | CA405649884 | RYR1 | c.10972C>T (n.10972C>T) c.11033C>T (p.Ser3678Leu) c.11018C>T (p.Ser3673Leu) c.11015C>T (p.Ser3672Leu) c.4420C>T c.1840C>T c.314C>T (p.Ser105Leu) c.11030C>T (p.Ser3677Leu) | |
19 | g.38528695A>C | CA507354584 | RYR1 | c.10973A>C (n.10973A>C) c.11034A>C (p.Ser3678=) c.11019A>C (p.Ser3673=) c.11016A>C (p.Ser3672=) c.4421A>C c.1841A>C c.315A>C (p.Ser105=) c.11031A>C (p.Ser3677=) | |
19 | g.38528695A>G | CA507354585 | RYR1 | c.10973A>G (n.10973A>G) c.11034A>G (p.Ser3678=) c.11019A>G (p.Ser3673=) c.11016A>G (p.Ser3672=) c.4421A>G c.1841A>G c.315A>G (p.Ser105=) c.11031A>G (p.Ser3677=) | |
19 | g.38528695A>T | CA507354587 | RYR1 | c.10973A>T (n.10973A>T) c.11034A>T (p.Ser3678=) c.11019A>T (p.Ser3673=) c.11016A>T (p.Ser3672=) c.4421A>T c.1841A>T c.315A>T (p.Ser105=) c.11031A>T (p.Ser3677=) | |
19 | g.38528696G>A | CA405649885 | RYR1 | c.10973+1G>A (n.10973+1G>A) c.11034+1G>A (n.11034+1G>A) c.11019+1G>A (n.11019+1G>A) c.11016+1G>A (n.11016+1G>A) c.4421+1G>A c.1841+1G>A c.315+1G>A (n.315+1G>A) c.11031+1G>A (n.11031+1G>A) | |
19 | g.38528696G>C | CA405649886 | RYR1 | c.10973+1G>C (n.10973+1G>C) c.11034+1G>C (n.11034+1G>C) c.11019+1G>C (n.11019+1G>C) c.11016+1G>C (n.11016+1G>C) c.4421+1G>C c.1841+1G>C c.315+1G>C (n.315+1G>C) c.11031+1G>C (n.11031+1G>C) | |
19 | g.38528696G>T | CA405649887 | RYR1 | c.10973+1G>T (n.10973+1G>T) c.11034+1G>T (n.11034+1G>T) c.11019+1G>T (n.11019+1G>T) c.11016+1G>T (n.11016+1G>T) c.4421+1G>T c.1841+1G>T c.315+1G>T (n.315+1G>T) c.11031+1G>T (n.11031+1G>T) | |
19 | g.38528697T>A | CA405649890 | RYR1 | c.10973+2T>A (n.10973+2T>A) c.11034+2T>A (n.11034+2T>A) c.11019+2T>A (n.11019+2T>A) c.11016+2T>A (n.11016+2T>A) c.4421+2T>A c.1841+2T>A c.315+2T>A (n.315+2T>A) c.11031+2T>A (n.11031+2T>A) | |
19 | g.38528697T>C | CA405649889 | RYR1 | c.10973+2T>C (n.10973+2T>C) c.11034+2T>C (n.11034+2T>C) c.11019+2T>C (n.11019+2T>C) c.11016+2T>C (n.11016+2T>C) c.4421+2T>C c.1841+2T>C c.315+2T>C (n.315+2T>C) c.11031+2T>C (n.11031+2T>C) | |
19 | g.38528697T>G | CA405649888 | RYR1 | c.10973+2T>G (n.10973+2T>G) c.11034+2T>G (n.11034+2T>G) c.11019+2T>G (n.11019+2T>G) c.11016+2T>G (n.11016+2T>G) c.4421+2T>G c.1841+2T>G c.315+2T>G (n.315+2T>G) c.11031+2T>G (n.11031+2T>G) | |
19 | g.38528700G>T | CA2584906321 | RYR1 | c.10973+5G>T (n.10973+5G>T) c.11034+5G>T (n.11034+5G>T) c.11019+5G>T (n.11019+5G>T) c.11016+5G>T (n.11016+5G>T) c.4421+5G>T c.1841+5G>T c.315+5G>T (n.315+5G>T) c.11031+5G>T (n.11031+5G>T) | gnomAD v4 |
19 | g.38528702T>C | CA055653 | RYR1 | c.10973+7T>C (n.10973+7T>C) c.11034+7T>C (n.11034+7T>C) c.11019+7T>C (n.11019+7T>C) c.11016+7T>C (n.11016+7T>C) c.4421+7T>C c.1841+7T>C c.315+7T>C (n.315+7T>C) c.11031+7T>C (n.11031+7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528702T= | CA2335067492 | RYR1 | c.10973+7T= (n.10973+7T=) c.11034+7T= (n.11034+7T=) c.11019+7T= (n.11019+7T=) c.11016+7T= (n.11016+7T=) c.4421+7T= c.1841+7T= c.315+7T= (n.315+7T=) c.11031+7T= (n.11031+7T=) | |
19 | g.38528703G>A | CA308082068 | RYR1 | c.10973+8G>A (n.10973+8G>A) c.11034+8G>A (n.11034+8G>A) c.11019+8G>A (n.11019+8G>A) c.11016+8G>A (n.11016+8G>A) c.4421+8G>A c.1841+8G>A c.315+8G>A (n.315+8G>A) c.11031+8G>A (n.11031+8G>A) | dbSNP |
19 | g.38528703G= | CA2335067493 | RYR1 | c.10973+8G= (n.10973+8G=) c.11034+8G= (n.11034+8G=) c.11019+8G= (n.11019+8G=) c.11016+8G= (n.11016+8G=) c.4421+8G= c.1841+8G= c.315+8G= (n.315+8G=) c.11031+8G= (n.11031+8G=) | |
19 | g.38528704G>A | CA633066712 | RYR1 | c.10973+9G>A (n.10973+9G>A) c.11034+9G>A (n.11034+9G>A) c.11019+9G>A (n.11019+9G>A) c.11016+9G>A (n.11016+9G>A) c.4421+9G>A c.1841+9G>A c.315+9G>A (n.315+9G>A) c.11031+9G>A (n.11031+9G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38528704G>C | CA2584906322 | RYR1 | c.10973+9G>C (n.10973+9G>C) c.11034+9G>C (n.11034+9G>C) c.11019+9G>C (n.11019+9G>C) c.11016+9G>C (n.11016+9G>C) c.4421+9G>C c.1841+9G>C c.315+9G>C (n.315+9G>C) c.11031+9G>C (n.11031+9G>C) | gnomAD v4 |
19 | g.38528704G= | CA2335067494 | RYR1 | c.10973+9G= (n.10973+9G=) c.11034+9G= (n.11034+9G=) c.11019+9G= (n.11019+9G=) c.11016+9G= (n.11016+9G=) c.4421+9G= c.1841+9G= c.315+9G= (n.315+9G=) c.11031+9G= (n.11031+9G=) | |
19 | g.38528705G>A | CA055584 | RYR1 | c.10973+10G>A (n.10973+10G>A) c.11034+10G>A (n.11034+10G>A) c.11019+10G>A (n.11019+10G>A) c.11016+10G>A (n.11016+10G>A) c.4421+10G>A c.1841+10G>A c.315+10G>A (n.315+10G>A) c.11031+10G>A (n.11031+10G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38528705G>C | CA055588 | RYR1 | c.10973+10G>C (n.10973+10G>C) c.11034+10G>C (n.11034+10G>C) c.11019+10G>C (n.11019+10G>C) c.11016+10G>C (n.11016+10G>C) c.4421+10G>C c.1841+10G>C c.315+10G>C (n.315+10G>C) c.11031+10G>C (n.11031+10G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38528705G= | CA2335067495 | RYR1 | c.10973+10G= (n.10973+10G=) c.11034+10G= (n.11034+10G=) c.11019+10G= (n.11019+10G=) c.11016+10G= (n.11016+10G=) c.4421+10G= c.1841+10G= c.315+10G= (n.315+10G=) c.11031+10G= (n.11031+10G=) | |
19 | g.38528706A>C | CA2814357951 | RYR1 | c.10973+11A>C (n.10973+11A>C) c.11034+11A>C (n.11034+11A>C) c.11019+11A>C (n.11019+11A>C) c.11016+11A>C (n.11016+11A>C) c.4421+11A>C c.1841+11A>C c.315+11A>C (n.315+11A>C) c.11031+11A>C (n.11031+11A>C) | |
19 | g.38528706A>G | CA2736031050 | RYR1 | c.10973+11A>G (n.10973+11A>G) c.11034+11A>G (n.11034+11A>G) c.11019+11A>G (n.11019+11A>G) c.11016+11A>G (n.11016+11A>G) c.4421+11A>G c.1841+11A>G c.315+11A>G (n.315+11A>G) c.11031+11A>G (n.11031+11A>G) | dbSNP |
19 | g.38528707C>A | CA2335067497 | RYR1 | c.10973+12C>A (n.10973+12C>A) c.11034+12C>A (n.11034+12C>A) c.11019+12C>A (n.11019+12C>A) c.11016+12C>A (n.11016+12C>A) c.4421+12C>A c.1841+12C>A c.315+12C>A (n.315+12C>A) c.11031+12C>A (n.11031+12C>A) | ClinVar dbSNP |
19 | g.38528707C= | CA2335067496 | RYR1 | c.10973+12C= (n.10973+12C=) c.11034+12C= (n.11034+12C=) c.11019+12C= (n.11019+12C=) c.11016+12C= (n.11016+12C=) c.4421+12C= c.1841+12C= c.315+12C= (n.315+12C=) c.11031+12C= (n.11031+12C=) | |
19 | g.38528708C>T | CA2584906323 | RYR1 | c.10973+13C>T (n.10973+13C>T) c.11034+13C>T (n.11034+13C>T) c.11019+13C>T (n.11019+13C>T) c.11016+13C>T (n.11016+13C>T) c.4421+13C>T c.1841+13C>T c.315+13C>T (n.315+13C>T) c.11031+13C>T (n.11031+13C>T) | ClinVar gnomAD v4 |
19 | g.38528709C>A | CA308082082 | RYR1 | c.10973+14C>A (n.10973+14C>A) c.11034+14C>A (n.11034+14C>A) c.11019+14C>A (n.11019+14C>A) c.11016+14C>A (n.11016+14C>A) c.4421+14C>A c.1841+14C>A c.315+14C>A (n.315+14C>A) c.11031+14C>A (n.11031+14C>A) | dbSNP gnomAD v4 |
19 | g.38528709C= | CA2335067498 | RYR1 | c.10973+14C= (n.10973+14C=) c.11034+14C= (n.11034+14C=) c.11019+14C= (n.11019+14C=) c.11016+14C= (n.11016+14C=) c.4421+14C= c.1841+14C= c.315+14C= (n.315+14C=) c.11031+14C= (n.11031+14C=) | |
19 | g.38528709C>G | CA2740096886 | RYR1 | c.10973+14C>G (n.10973+14C>G) c.11034+14C>G (n.11034+14C>G) c.11019+14C>G (n.11019+14C>G) c.11016+14C>G (n.11016+14C>G) c.4421+14C>G c.1841+14C>G c.315+14C>G (n.315+14C>G) c.11031+14C>G (n.11031+14C>G) | ClinVar |
19 | g.38528709C>T | CA2584906324 | RYR1 | c.10973+14C>T (n.10973+14C>T) c.11034+14C>T (n.11034+14C>T) c.11019+14C>T (n.11019+14C>T) c.11016+14C>T (n.11016+14C>T) c.4421+14C>T c.1841+14C>T c.315+14C>T (n.315+14C>T) c.11031+14C>T (n.11031+14C>T) | ClinVar gnomAD v4 |
19 | g.38528710G>A | CA055593 | RYR1 | c.10973+15G>A (n.10973+15G>A) c.11034+15G>A (n.11034+15G>A) c.11019+15G>A (n.11019+15G>A) c.11016+15G>A (n.11016+15G>A) c.4421+15G>A c.1841+15G>A c.315+15G>A (n.315+15G>A) c.11031+15G>A (n.11031+15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528710G= | CA2335067499 | RYR1 | c.10973+15G= (n.10973+15G=) c.11034+15G= (n.11034+15G=) c.11019+15G= (n.11019+15G=) c.11016+15G= (n.11016+15G=) c.4421+15G= c.1841+15G= c.315+15G= (n.315+15G=) c.11031+15G= (n.11031+15G=) | |
19 | g.38528710G>T | CA882054439 | RYR1 | c.10973+15G>T (n.10973+15G>T) c.11034+15G>T (n.11034+15G>T) c.11019+15G>T (n.11019+15G>T) c.11016+15G>T (n.11016+15G>T) c.4421+15G>T c.1841+15G>T c.315+15G>T (n.315+15G>T) c.11031+15G>T (n.11031+15G>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38528714G>A | CA2584906325 | RYR1 | c.10973+19G>A (n.10973+19G>A) c.11034+19G>A (n.11034+19G>A) c.11019+19G>A (n.11019+19G>A) c.11016+19G>A (n.11016+19G>A) c.4421+19G>A c.1841+19G>A c.315+19G>A (n.315+19G>A) c.11031+19G>A (n.11031+19G>A) | gnomAD v4 |
19 | g.38528714G>C | CA055597 | RYR1 | c.10973+19G>C (n.10973+19G>C) c.11034+19G>C (n.11034+19G>C) c.11019+19G>C (n.11019+19G>C) c.11016+19G>C (n.11016+19G>C) c.4421+19G>C c.1841+19G>C c.315+19G>C (n.315+19G>C) c.11031+19G>C (n.11031+19G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38528714G= | CA2335067500 | RYR1 | c.10973+19G= (n.10973+19G=) c.11034+19G= (n.11034+19G=) c.11019+19G= (n.11019+19G=) c.11016+19G= (n.11016+19G=) c.4421+19G= c.1841+19G= c.315+19G= (n.315+19G=) c.11031+19G= (n.11031+19G=) | |
19 | g.38528714G>T | CA2580097203 | RYR1 | c.10973+19G>T (n.10973+19G>T) c.11034+19G>T (n.11034+19G>T) c.11019+19G>T (n.11019+19G>T) c.11016+19G>T (n.11016+19G>T) c.4421+19G>T c.1841+19G>T c.315+19G>T (n.315+19G>T) c.11031+19G>T (n.11031+19G>T) | ClinVar gnomAD v4 |
19 | g.38528718del | CA2576771767 | RYR1 | c.10973+23del (n.10973+23del) c.11034+23del (n.11034+23del) c.11019+23del (n.11019+23del) c.11016+23del (n.11016+23del) c.4421+23del c.1841+23del c.315+23del (n.315+23del) c.11031+23del (n.11031+23del) | |
19 | g.38528715G>A | CA882054448 | RYR1 | c.10973+20G>A (n.10973+20G>A) c.11034+20G>A (n.11034+20G>A) c.11019+20G>A (n.11019+20G>A) c.11016+20G>A (n.11016+20G>A) c.4421+20G>A c.1841+20G>A c.315+20G>A (n.315+20G>A) c.11031+20G>A (n.11031+20G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38528715G= | CA2335067501 | RYR1 | c.10973+20G= (n.10973+20G=) c.11034+20G= (n.11034+20G=) c.11019+20G= (n.11019+20G=) c.11016+20G= (n.11016+20G=) c.4421+20G= c.1841+20G= c.315+20G= (n.315+20G=) c.11031+20G= (n.11031+20G=) | |
19 | g.38528715G>T | CA023883 | RYR1 | c.10973+20G>T (n.10973+20G>T) c.11034+20G>T (n.11034+20G>T) c.11019+20G>T (n.11019+20G>T) c.11016+20G>T (n.11016+20G>T) c.4421+20G>T c.1841+20G>T c.315+20G>T (n.315+20G>T) c.11031+20G>T (n.11031+20G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528716G>A | CA055610 | RYR1 | c.10973+21G>A (n.10973+21G>A) c.11034+21G>A (n.11034+21G>A) c.11019+21G>A (n.11019+21G>A) c.11016+21G>A (n.11016+21G>A) c.4421+21G>A c.1841+21G>A c.315+21G>A (n.315+21G>A) c.11031+21G>A (n.11031+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38528716G= | CA2335067502 | RYR1 | c.10973+21G= (n.10973+21G=) c.11034+21G= (n.11034+21G=) c.11019+21G= (n.11019+21G=) c.11016+21G= (n.11016+21G=) c.4421+21G= c.1841+21G= c.315+21G= (n.315+21G=) c.11031+21G= (n.11031+21G=) | |
19 | g.38528717G>A | CA633066713 | RYR1 | c.10973+22G>A (n.10973+22G>A) c.11034+22G>A (n.11034+22G>A) c.11019+22G>A (n.11019+22G>A) c.11016+22G>A (n.11016+22G>A) c.4421+22G>A c.1841+22G>A c.315+22G>A (n.315+22G>A) c.11031+22G>A (n.11031+22G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38528717G= | CA2335067503 | RYR1 | c.10973+22G= (n.10973+22G=) c.11034+22G= (n.11034+22G=) c.11019+22G= (n.11019+22G=) c.11016+22G= (n.11016+22G=) c.4421+22G= c.1841+22G= c.315+22G= (n.315+22G=) c.11031+22G= (n.11031+22G=) |