| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38528602C>A | CA405649685 | RYR1 | c.10880C>A (n.10880C>A) c.10941C>A (p.His3647Gln) c.10926C>A (p.His3642Gln) c.10923C>A (p.His3641Gln) c.4328C>A c.1748C>A c.222C>A (p.His74Gln) c.10938C>A (p.His3646Gln) | |
| 19 | g.38528602C= | CA2335067449 | RYR1 | c.10880C= (n.10880C=) c.10941C= (p.His3647=) c.10926C= (p.His3642=) c.10923C= (p.His3641=) c.4328C= c.1748C= c.222C= (p.His74=) c.10938C= (p.His3646=) | |
| 19 | g.38528602C>G | CA023875 | RYR1 | c.10880C>G (n.10880C>G) c.10941C>G (p.His3647Gln) c.10926C>G (p.His3642Gln) c.10923C>G (p.His3641Gln) c.4328C>G c.1748C>G c.222C>G (p.His74Gln) c.10938C>G (p.His3646Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38528602C>T | CA507354527 | RYR1 | c.10880C>T (n.10880C>T) c.10941C>T (p.His3647=) c.10926C>T (p.His3642=) c.10923C>T (p.His3641=) c.4328C>T c.1748C>T c.222C>T (p.His74=) c.10938C>T (p.His3646=) | gnomAD v4 |
| 19 | g.38528603C>A | CA507354528 | RYR1 | c.10881C>A (n.10881C>A) c.10942C>A (p.Arg3648=) c.10927C>A (p.Arg3643=) c.10924C>A (p.Arg3642=) c.4329C>A c.1749C>A c.223C>A (p.Arg75=) c.10939C>A (p.Arg3647=) | |
| 19 | g.38528603C>G | CA405649686 | RYR1 | c.10881C>G (n.10881C>G) c.10942C>G (p.Arg3648Gly) c.10927C>G (p.Arg3643Gly) c.10924C>G (p.Arg3642Gly) c.4329C>G c.1749C>G c.223C>G (p.Arg75Gly) c.10939C>G (p.Arg3647Gly) | ClinVar gnomAD v4 |
| 19 | g.38528603C>T | CA405649687 | RYR1 | c.10881C>T (n.10881C>T) c.10942C>T (p.Arg3648Trp) c.10927C>T (p.Arg3643Trp) c.10924C>T (p.Arg3642Trp) c.4329C>T c.1749C>T c.223C>T (p.Arg75Trp) c.10939C>T (p.Arg3647Trp) | ClinVar gnomAD v4 |
| 19 | g.38528604G>A | CA055437 | RYR1 | c.10882G>A (n.10882G>A) c.10943G>A (p.Arg3648Gln) c.10928G>A (p.Arg3643Gln) c.10925G>A (p.Arg3642Gln) c.4330G>A c.1750G>A c.224G>A (p.Arg75Gln) c.10940G>A (p.Arg3647Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38528604G>C | CA405649688 | RYR1 | c.10882G>C (n.10882G>C) c.10943G>C (p.Arg3648Pro) c.10928G>C (p.Arg3643Pro) c.10925G>C (p.Arg3642Pro) c.4330G>C c.1750G>C c.224G>C (p.Arg75Pro) c.10940G>C (p.Arg3647Pro) | |
| 19 | g.38528604G= | CA2335067450 | RYR1 | c.10882G= (n.10882G=) c.10943G= (p.Arg3648=) c.10928G= (p.Arg3643=) c.10925G= (p.Arg3642=) c.4330G= c.1750G= c.224G= (p.Arg75=) c.10940G= (p.Arg3647=) | |
| 19 | g.38528604G>T | CA405649689 | RYR1 | c.10882G>T (n.10882G>T) c.10943G>T (p.Arg3648Leu) c.10928G>T (p.Arg3643Leu) c.10925G>T (p.Arg3642Leu) c.4330G>T c.1750G>T c.224G>T (p.Arg75Leu) c.10940G>T (p.Arg3647Leu) | |
| 19 | g.38528605G>A | CA507354529 | RYR1 | c.10883G>A (n.10883G>A) c.10944G>A (p.Arg3648=) c.10929G>A (p.Arg3643=) c.10926G>A (p.Arg3642=) c.4331G>A c.1751G>A c.225G>A (p.Arg75=) c.10941G>A (p.Arg3647=) | gnomAD v4 |
| 19 | g.38528605G>C | CA507354530 | RYR1 | c.10883G>C (n.10883G>C) c.10944G>C (p.Arg3648=) c.10929G>C (p.Arg3643=) c.10926G>C (p.Arg3642=) c.4331G>C c.1751G>C c.225G>C (p.Arg75=) c.10941G>C (p.Arg3647=) | |
| 19 | g.38528605G>T | CA507354531 | RYR1 | c.10883G>T (n.10883G>T) c.10944G>T (p.Arg3648=) c.10929G>T (p.Arg3643=) c.10926G>T (p.Arg3642=) c.4331G>T c.1751G>T c.225G>T (p.Arg75=) c.10941G>T (p.Arg3647=) | |
| 19 | g.38528606G>A | CA405649690 | RYR1 | c.10884G>A (n.10884G>A) c.10945G>A (p.Ala3649Thr) c.10930G>A (p.Ala3644Thr) c.10927G>A (p.Ala3643Thr) c.4332G>A c.1752G>A c.226G>A (p.Ala76Thr) c.10942G>A (p.Ala3648Thr) | |
| 19 | g.38528606G>C | CA405649691 | RYR1 | c.10884G>C (n.10884G>C) c.10945G>C (p.Ala3649Pro) c.10930G>C (p.Ala3644Pro) c.10927G>C (p.Ala3643Pro) c.4332G>C c.1752G>C c.226G>C (p.Ala76Pro) c.10942G>C (p.Ala3648Pro) | ClinVar |
| 19 | g.38528606G= | CA2335067451 | RYR1 | c.10884G= (n.10884G=) c.10945G= (p.Ala3649=) c.10930G= (p.Ala3644=) c.10927G= (p.Ala3643=) c.4332G= c.1752G= c.226G= (p.Ala76=) c.10942G= (p.Ala3648=) | |
| 19 | g.38528606G>T | CA405649692 | RYR1 | c.10884G>T (n.10884G>T) c.10945G>T (p.Ala3649Ser) c.10930G>T (p.Ala3644Ser) c.10927G>T (p.Ala3643Ser) c.4332G>T c.1752G>T c.226G>T (p.Ala76Ser) c.10942G>T (p.Ala3648Ser) | dbSNP gnomAD v4 |
| 19 | g.38528607C>A | CA405649693 | RYR1 | c.10885C>A (n.10885C>A) c.10946C>A (p.Ala3649Glu) c.10931C>A (p.Ala3644Glu) c.10928C>A (p.Ala3643Glu) c.4333C>A c.1753C>A c.227C>A (p.Ala76Glu) c.10943C>A (p.Ala3648Glu) | |
| 19 | g.38528607C= | CA2335067452 | RYR1 | c.10885C= (n.10885C=) c.10946C= (p.Ala3649=) c.10931C= (p.Ala3644=) c.10928C= (p.Ala3643=) c.4333C= c.1753C= c.227C= (p.Ala76=) c.10943C= (p.Ala3648=) | |
| 19 | g.38528607C>G | CA405649694 | RYR1 | c.10885C>G (n.10885C>G) c.10946C>G (p.Ala3649Gly) c.10931C>G (p.Ala3644Gly) c.10928C>G (p.Ala3643Gly) c.4333C>G c.1753C>G c.227C>G (p.Ala76Gly) c.10943C>G (p.Ala3648Gly) | |
| 19 | g.38528607C>T | CA055445 | RYR1 | c.10885C>T (n.10885C>T) c.10946C>T (p.Ala3649Val) c.10931C>T (p.Ala3644Val) c.10928C>T (p.Ala3643Val) c.4333C>T c.1753C>T c.227C>T (p.Ala76Val) c.10943C>T (p.Ala3648Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38528607dup | CA2695223186 | RYR1 | c.10885dup (n.10885dup) c.10946dup (p.Cys3650MetfsTer2) c.10931dup (p.Cys3645MetfsTer2) c.10928dup (p.Cys3644MetfsTer2) c.4333dup c.1753dup c.227dup (p.Cys77MetfsTer2) c.10943dup (p.Cys3649MetfsTer2) | ClinVar |
| 19 | g.38528608A= | CA2335067453 | RYR1 | c.10886A= (n.10886A=) c.10947A= (p.Ala3649=) c.10932A= (p.Ala3644=) c.10929A= (p.Ala3643=) c.4334A= c.1754A= c.228A= (p.Ala76=) c.10944A= (p.Ala3648=) | |
| 19 | g.38528608A>C | CA507354534 | RYR1 | c.10886A>C (n.10886A>C) c.10947A>C (p.Ala3649=) c.10932A>C (p.Ala3644=) c.10929A>C (p.Ala3643=) c.4334A>C c.1754A>C c.228A>C (p.Ala76=) c.10944A>C (p.Ala3648=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38528608A>G | CA507354533 | RYR1 | c.10886A>G (n.10886A>G) c.10947A>G (p.Ala3649=) c.10932A>G (p.Ala3644=) c.10929A>G (p.Ala3643=) c.4334A>G c.1754A>G c.228A>G (p.Ala76=) c.10944A>G (p.Ala3648=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38528608A>T | CA507354532 | RYR1 | c.10886A>T (n.10886A>T) c.10947A>T (p.Ala3649=) c.10932A>T (p.Ala3644=) c.10929A>T (p.Ala3643=) c.4334A>T c.1754A>T c.228A>T (p.Ala76=) c.10944A>T (p.Ala3648=) | |
| 19 | g.38528609T>A | CA405649697 | RYR1 | c.10887T>A (n.10887T>A) c.10948T>A (p.Cys3650Ser) c.10933T>A (p.Cys3645Ser) c.10930T>A (p.Cys3644Ser) c.4335T>A c.1755T>A c.229T>A (p.Cys77Ser) c.10945T>A (p.Cys3649Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38528609T>C | CA405649695 | RYR1 | c.10887T>C (n.10887T>C) c.10948T>C (p.Cys3650Arg) c.10933T>C (p.Cys3645Arg) c.10930T>C (p.Cys3644Arg) c.4335T>C c.1755T>C c.229T>C (p.Cys77Arg) c.10945T>C (p.Cys3649Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38528609T>G | CA405649696 | RYR1 | c.10887T>G (n.10887T>G) c.10948T>G (p.Cys3650Gly) c.10933T>G (p.Cys3645Gly) c.10930T>G (p.Cys3644Gly) c.4335T>G c.1755T>G c.229T>G (p.Cys77Gly) c.10945T>G (p.Cys3649Gly) | |
| 19 | g.38528609T= | CA2335067454 | RYR1 | c.10887T= (n.10887T=) c.10948T= (p.Cys3650=) c.10933T= (p.Cys3645=) c.10930T= (p.Cys3644=) c.4335T= c.1755T= c.229T= (p.Cys77=) c.10945T= (p.Cys3649=) | |
| 19 | g.38528610G>A | CA405649698 | RYR1 | c.10888G>A (n.10888G>A) c.10949G>A (p.Cys3650Tyr) c.10934G>A (p.Cys3645Tyr) c.10931G>A (p.Cys3644Tyr) c.4336G>A c.1756G>A c.230G>A (p.Cys77Tyr) c.10946G>A (p.Cys3649Tyr) | dbSNP |
| 19 | g.38528610G>C | CA405649699 | RYR1 | c.10888G>C (n.10888G>C) c.10949G>C (p.Cys3650Ser) c.10934G>C (p.Cys3645Ser) c.10931G>C (p.Cys3644Ser) c.4336G>C c.1756G>C c.230G>C (p.Cys77Ser) c.10946G>C (p.Cys3649Ser) | |
| 19 | g.38528610G= | CA2335067455 | RYR1 | c.10888G= (n.10888G=) c.10949G= (p.Cys3650=) c.10934G= (p.Cys3645=) c.10931G= (p.Cys3644=) c.4336G= c.1756G= c.230G= (p.Cys77=) c.10946G= (p.Cys3649=) | |
| 19 | g.38528610G>T | CA405649700 | RYR1 | c.10888G>T (n.10888G>T) c.10949G>T (p.Cys3650Phe) c.10934G>T (p.Cys3645Phe) c.10931G>T (p.Cys3644Phe) c.4336G>T c.1756G>T c.230G>T (p.Cys77Phe) c.10946G>T (p.Cys3649Phe) | |
| 19 | g.38528611T>A | CA405649701 | RYR1 | c.10889T>A (n.10889T>A) c.10950T>A (p.Cys3650Ter) c.10935T>A (p.Cys3645Ter) c.10932T>A (p.Cys3644Ter) c.4337T>A c.1757T>A c.231T>A (p.Cys77Ter) c.10947T>A (p.Cys3649Ter) | |
| 19 | g.38528611T>C | CA507354535 | RYR1 | c.10889T>C (n.10889T>C) c.10950T>C (p.Cys3650=) c.10935T>C (p.Cys3645=) c.10932T>C (p.Cys3644=) c.4337T>C c.1757T>C c.231T>C (p.Cys77=) c.10947T>C (p.Cys3649=) | |
| 19 | g.38528611T>G | CA405649702 | RYR1 | c.10889T>G (n.10889T>G) c.10950T>G (p.Cys3650Trp) c.10935T>G (p.Cys3645Trp) c.10932T>G (p.Cys3644Trp) c.4337T>G c.1757T>G c.231T>G (p.Cys77Trp) c.10947T>G (p.Cys3649Trp) | |
| 19 | g.38528612A>C | CA405649703 | RYR1 | c.10890A>C (n.10890A>C) c.10951A>C (p.Asn3651His) c.10936A>C (p.Asn3646His) c.10933A>C (p.Asn3645His) c.4338A>C c.1758A>C c.232A>C (p.Asn78His) c.10948A>C (p.Asn3650His) | |
| 19 | g.38528612A>G | CA405649704 | RYR1 | c.10890A>G (n.10890A>G) c.10951A>G (p.Asn3651Asp) c.10936A>G (p.Asn3646Asp) c.10933A>G (p.Asn3645Asp) c.4338A>G c.1758A>G c.232A>G (p.Asn78Asp) c.10948A>G (p.Asn3650Asp) | |
| 19 | g.38528612A>T | CA405649705 | RYR1 | c.10890A>T (n.10890A>T) c.10951A>T (p.Asn3651Tyr) c.10936A>T (p.Asn3646Tyr) c.10933A>T (p.Asn3645Tyr) c.4338A>T c.1758A>T c.232A>T (p.Asn78Tyr) c.10948A>T (p.Asn3650Tyr) | |
| 19 | g.38528613A= | CA2335067456 | RYR1 | c.10891A= (n.10891A=) c.10952A= (p.Asn3651=) c.10937A= (p.Asn3646=) c.10934A= (p.Asn3645=) c.4339A= c.1759A= c.233A= (p.Asn78=) c.10949A= (p.Asn3650=) | |
| 19 | g.38528613A>C | CA405649706 | RYR1 | c.10891A>C (n.10891A>C) c.10952A>C (p.Asn3651Thr) c.10937A>C (p.Asn3646Thr) c.10934A>C (p.Asn3645Thr) c.4339A>C c.1759A>C c.233A>C (p.Asn78Thr) c.10949A>C (p.Asn3650Thr) | |
| 19 | g.38528613A>G | CA055455 | RYR1 | c.10891A>G (n.10891A>G) c.10952A>G (p.Asn3651Ser) c.10937A>G (p.Asn3646Ser) c.10934A>G (p.Asn3645Ser) c.4339A>G c.1759A>G c.233A>G (p.Asn78Ser) c.10949A>G (p.Asn3650Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38528613A>T | CA405649707 | RYR1 | c.10891A>T (n.10891A>T) c.10952A>T (p.Asn3651Ile) c.10937A>T (p.Asn3646Ile) c.10934A>T (p.Asn3645Ile) c.4339A>T c.1759A>T c.233A>T (p.Asn78Ile) c.10949A>T (p.Asn3650Ile) | |
| 19 | g.38528614C>A | CA405649708 | RYR1 | c.10892C>A (n.10892C>A) c.10953C>A (p.Asn3651Lys) c.10938C>A (p.Asn3646Lys) c.10935C>A (p.Asn3645Lys) c.4340C>A c.1760C>A c.234C>A (p.Asn78Lys) c.10950C>A (p.Asn3650Lys) | |
| 19 | g.38528614C= | CA2335067457 | RYR1 | c.10892C= (n.10892C=) c.10953C= (p.Asn3651=) c.10938C= (p.Asn3646=) c.10935C= (p.Asn3645=) c.4340C= c.1760C= c.234C= (p.Asn78=) c.10950C= (p.Asn3650=) | |
| 19 | g.38528614C>G | CA080121 | RYR1 | c.10892C>G (n.10892C>G) c.10953C>G (p.Asn3651Lys) c.10938C>G (p.Asn3646Lys) c.10935C>G (p.Asn3645Lys) c.4340C>G c.1760C>G c.234C>G (p.Asn78Lys) c.10950C>G (p.Asn3650Lys) | |
| 19 | g.38528614C>T | CA055464 | RYR1 | c.10892C>T (n.10892C>T) c.10953C>T (p.Asn3651=) c.10938C>T (p.Asn3646=) c.10935C>T (p.Asn3645=) c.4340C>T c.1760C>T c.234C>T (p.Asn78=) c.10950C>T (p.Asn3650=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 19 | g.38528615A= | CA2335067458 | RYR1 | c.10893A= (n.10893A=) c.10954A= (p.Met3652=) c.10939A= (p.Met3647=) c.10936A= (p.Met3646=) c.4341A= c.1761A= c.235A= (p.Met79=) c.10951A= (p.Met3651=) |