Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38517385_38517387del | CA074071 | RYR1 | c.9651_9653del (n.9651_9653del) c.9712_9714del (p.Glu3238del) c.9709_9711del (p.Glu3237del) c.3114_3116del c.519_521del n.9745_9747del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517387G>A | CA507247092 | RYR1 | c.9653G>A (n.9653G>A) c.9714G>A (p.Glu3238=) c.9711G>A (p.Glu3237=) c.3116G>A c.521G>A n.9747G>A | |
19 | g.38517387G>C | CA405691449 | RYR1 | c.9653G>C (n.9653G>C) c.9714G>C (p.Glu3238Asp) c.9711G>C (p.Glu3237Asp) c.3116G>C c.521G>C n.9747G>C | |
19 | g.38517387G>T | CA405691450 | RYR1 | c.9653G>T (n.9653G>T) c.9714G>T (p.Glu3238Asp) c.9711G>T (p.Glu3237Asp) c.3116G>T c.521G>T n.9747G>T | |
19 | g.38517388A= | CA2335062002 | RYR1 | c.9654A= (n.9654A=) c.9715A= (p.Met3239=) c.9712A= (p.Met3238=) c.3117A= c.522A= n.9748A= | |
19 | g.38517388A>C | CA405691461 | RYR1 | c.9654A>C (n.9654A>C) c.9715A>C (p.Met3239Leu) c.9712A>C (p.Met3238Leu) c.3117A>C c.522A>C n.9748A>C | |
19 | g.38517388A>G | CA405691456 | RYR1 | c.9654A>G (n.9654A>G) c.9715A>G (p.Met3239Val) c.9712A>G (p.Met3238Val) c.3117A>G c.522A>G n.9748A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517388A>T | CA405691453 | RYR1 | c.9654A>T (n.9654A>T) c.9715A>T (p.Met3239Leu) c.9712A>T (p.Met3238Leu) c.3117A>T c.522A>T n.9748A>T | |
19 | g.38517389T>A | CA074078 | RYR1 | c.9655T>A (n.9655T>A) c.9716T>A (p.Met3239Lys) c.9713T>A (p.Met3238Lys) c.3118T>A c.523T>A n.9749T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517389T>C | CA405691462 | RYR1 | c.9655T>C (n.9655T>C) c.9716T>C (p.Met3239Thr) c.9713T>C (p.Met3238Thr) c.3118T>C c.523T>C n.9749T>C | |
19 | g.38517389T>G | CA405691463 | RYR1 | c.9655T>G (n.9655T>G) c.9716T>G (p.Met3239Arg) c.9713T>G (p.Met3238Arg) c.3118T>G c.523T>G n.9749T>G | gnomAD v4 |
19 | g.38517389T= | CA2335062003 | RYR1 | c.9655T= (n.9655T=) c.9716T= (p.Met3239=) c.9713T= (p.Met3238=) c.3118T= c.523T= n.9749T= | |
19 | g.38517390G>A | CA084793 | RYR1 | c.9656G>A (n.9656G>A) c.9717G>A (p.Met3239Ile) c.9714G>A (p.Met3238Ile) c.3119G>A c.524G>A n.9750G>A | gnomAD v4 |
19 | g.38517390G>C | CA405691483 | RYR1 | c.9656G>C (n.9656G>C) c.9717G>C (p.Met3239Ile) c.9714G>C (p.Met3238Ile) c.3119G>C c.524G>C n.9750G>C | |
19 | g.38517390G>T | CA405691486 | RYR1 | c.9656G>T (n.9656G>T) c.9717G>T (p.Met3239Ile) c.9714G>T (p.Met3238Ile) c.3119G>T c.524G>T n.9750G>T | |
19 | g.38517391T>A | CA405691489 | RYR1 | c.9657T>A (n.9657T>A) c.9718T>A (p.Cys3240Ser) c.9715T>A (p.Cys3239Ser) c.3120T>A c.525T>A n.9751T>A | |
19 | g.38517391T>C | CA308129692 | RYR1 | c.9657T>C (n.9657T>C) c.9718T>C (p.Cys3240Arg) c.9715T>C (p.Cys3239Arg) c.3120T>C c.525T>C n.9751T>C | ClinVar dbSNP gnomAD v4 |
19 | g.38517391T>G | CA405691517 | RYR1 | c.9657T>G (n.9657T>G) c.9718T>G (p.Cys3240Gly) c.9715T>G (p.Cys3239Gly) c.3120T>G c.525T>G n.9751T>G | |
19 | g.38517391T= | CA2335062004 | RYR1 | c.9657T= (n.9657T=) c.9718T= (p.Cys3240=) c.9715T= (p.Cys3239=) c.3120T= c.525T= n.9751T= | |
19 | g.38517392G>A | CA405691521 | RYR1 | c.9658G>A (n.9658G>A) c.9719G>A (p.Cys3240Tyr) c.9716G>A (p.Cys3239Tyr) c.3121G>A c.526G>A n.9752G>A | |
19 | g.38517392G>C | CA405691526 | RYR1 | c.9658G>C (n.9658G>C) c.9719G>C (p.Cys3240Ser) c.9716G>C (p.Cys3239Ser) c.3121G>C c.526G>C n.9752G>C | |
19 | g.38517392G>T | CA405691541 | RYR1 | c.9658G>T (n.9658G>T) c.9719G>T (p.Cys3240Phe) c.9716G>T (p.Cys3239Phe) c.3121G>T c.526G>T n.9752G>T | |
19 | g.38517393T>A | CA405691547 | RYR1 | c.9659T>A (n.9659T>A) c.9720T>A (p.Cys3240Ter) c.9717T>A (p.Cys3239Ter) c.3122T>A c.527T>A n.9753T>A | |
19 | g.38517393T>C | CA507247093 | RYR1 | c.9659T>C (n.9659T>C) c.9720T>C (p.Cys3240=) c.9717T>C (p.Cys3239=) c.3122T>C c.527T>C n.9753T>C | COSMIC |
19 | g.38517393T>G | CA405691549 | RYR1 | c.9659T>G (n.9659T>G) c.9720T>G (p.Cys3240Trp) c.9717T>G (p.Cys3239Trp) c.3122T>G c.527T>G n.9753T>G | |
19 | g.38517394C>A | CA405691575 | RYR1 | c.9660C>A (n.9660C>A) c.9721C>A (p.Pro3241Thr) c.9718C>A (p.Pro3240Thr) c.3123C>A c.528C>A n.9754C>A | |
19 | g.38517394C= | CA2335062005 | RYR1 | c.9660C= (n.9660C=) c.9721C= (p.Pro3241=) c.9718C= (p.Pro3240=) c.3123C= c.528C= n.9754C= | |
19 | g.38517394C>G | CA405691571 | RYR1 | c.9660C>G (n.9660C>G) c.9721C>G (p.Pro3241Ala) c.9718C>G (p.Pro3240Ala) c.3123C>G c.528C>G n.9754C>G | |
19 | g.38517394C>T | CA074083 | RYR1 | c.9660C>T (n.9660C>T) c.9721C>T (p.Pro3241Ser) c.9718C>T (p.Pro3240Ser) c.3123C>T c.528C>T n.9754C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38517396del | CA507247094 | RYR1 | c.9662del (n.9662del) c.9723del (p.Asp3242ThrfsTer?) c.9720del (p.Asp3241ThrfsTer?) c.3125del c.530del n.9756del | COSMIC |
19 | g.38517395C>A | CA405691577 | RYR1 | c.9661C>A (n.9661C>A) c.9722C>A (p.Pro3241His) c.9719C>A (p.Pro3240His) c.3124C>A c.529C>A n.9755C>A | |
19 | g.38517395C>G | CA405691580 | RYR1 | c.9661C>G (n.9661C>G) c.9722C>G (p.Pro3241Arg) c.9719C>G (p.Pro3240Arg) c.3124C>G c.529C>G n.9755C>G | |
19 | g.38517395C>T | CA405691588 | RYR1 | c.9661C>T (n.9661C>T) c.9722C>T (p.Pro3241Leu) c.9719C>T (p.Pro3240Leu) c.3124C>T c.529C>T n.9755C>T | ClinVar gnomAD v4 |
19 | g.38517396C>A | CA507247095 | RYR1 | c.9662C>A (n.9662C>A) c.9723C>A (p.Pro3241=) c.9720C>A (p.Pro3240=) c.3125C>A c.530C>A n.9756C>A | |
19 | g.38517396C= | CA2335062006 | RYR1 | c.9662C= (n.9662C=) c.9723C= (p.Pro3241=) c.9720C= (p.Pro3240=) c.3125C= c.530C= n.9756C= | |
19 | g.38517396C>G | CA507247096 | RYR1 | c.9662C>G (n.9662C>G) c.9723C>G (p.Pro3241=) c.9720C>G (p.Pro3240=) c.3125C>G c.530C>G n.9756C>G | |
19 | g.38517396C>T | CA025001 | RYR1 | c.9662C>T (n.9662C>T) c.9723C>T (p.Pro3241=) c.9720C>T (p.Pro3240=) c.3125C>T c.530C>T n.9756C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517397G>A | CA405691594 | RYR1 | c.9663G>A (n.9663G>A) c.9724G>A (p.Asp3242Asn) c.9721G>A (p.Asp3241Asn) c.3126G>A c.531G>A n.9757G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38517397G>C | CA405691598 | RYR1 | c.9663G>C (n.9663G>C) c.9724G>C (p.Asp3242His) c.9721G>C (p.Asp3241His) c.3126G>C c.531G>C n.9757G>C | |
19 | g.38517397G= | CA2335062007 | RYR1 | c.9663G= (n.9663G=) c.9724G= (p.Asp3242=) c.9721G= (p.Asp3241=) c.3126G= c.531G= n.9757G= | |
19 | g.38517397G>T | CA405691602 | RYR1 | c.9663G>T (n.9663G>T) c.9724G>T (p.Asp3242Tyr) c.9721G>T (p.Asp3241Tyr) c.3126G>T c.531G>T n.9757G>T | gnomAD v4 |
19 | g.38517398A>C | CA405691612 | RYR1 | c.9664A>C (n.9664A>C) c.9725A>C (p.Asp3242Ala) c.9722A>C (p.Asp3241Ala) c.3127A>C c.532A>C n.9758A>C | |
19 | g.38517398A>G | CA405691605 | RYR1 | c.9664A>G (n.9664A>G) c.9725A>G (p.Asp3242Gly) c.9722A>G (p.Asp3241Gly) c.3127A>G c.532A>G n.9758A>G | |
19 | g.38517398A>T | CA405691609 | RYR1 | c.9664A>T (n.9664A>T) c.9725A>T (p.Asp3242Val) c.9722A>T (p.Asp3241Val) c.3127A>T c.532A>T n.9758A>T | |
19 | g.38517399C>A | CA405691615 | RYR1 | c.9665C>A (n.9665C>A) c.9726C>A (p.Asp3242Glu) c.9723C>A (p.Asp3241Glu) c.3128C>A c.533C>A n.9759C>A | dbSNP |
19 | g.38517399C= | CA2335062008 | RYR1 | c.9665C= (n.9665C=) c.9726C= (p.Asp3242=) c.9723C= (p.Asp3241=) c.3128C= c.533C= n.9759C= | |
19 | g.38517399C>G | CA405691617 | RYR1 | c.9665C>G (n.9665C>G) c.9726C>G (p.Asp3242Glu) c.9723C>G (p.Asp3241Glu) c.3128C>G c.533C>G n.9759C>G | |
19 | g.38517399C>T | CA084847 | RYR1 | c.9665C>T (n.9665C>T) c.9726C>T (p.Asp3242=) c.9723C>T (p.Asp3241=) c.3128C>T c.533C>T n.9759C>T | ClinVar dbSNP |
19 | g.38517400A= | CA2335062009 | RYR1 | c.9666A= (n.9666A=) c.9727A= (p.Ile3243=) c.9724A= (p.Ile3242=) c.3129A= c.534A= n.9760A= | |
19 | g.38517400A>C | CA405691619 | RYR1 | c.9666A>C (n.9666A>C) c.9727A>C (p.Ile3243Leu) c.9724A>C (p.Ile3242Leu) c.3129A>C c.534A>C n.9760A>C | |
19 | g.38517400A>G | CA074090 | RYR1 | c.9666A>G (n.9666A>G) c.9727A>G (p.Ile3243Val) c.9724A>G (p.Ile3242Val) c.3129A>G c.534A>G n.9760A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517400A>T | CA405691622 | RYR1 | c.9666A>T (n.9666A>T) c.9727A>T (p.Ile3243Phe) c.9724A>T (p.Ile3242Phe) c.3129A>T c.534A>T n.9760A>T | |
19 | g.38517400_38517405del | CA645612188 | RYR1 | c.9666_9671del (n.9666_9671del) c.9727_9732del (p.Ile3243_Pro3244del) c.9724_9729del (p.Ile3242_Pro3243del) c.3129_3134del c.534_539del n.9760_9765del | COSMIC |
19 | g.38517401T>A | CA405691628 | RYR1 | c.9667T>A (n.9667T>A) c.9728T>A (p.Ile3243Asn) c.9725T>A (p.Ile3242Asn) c.3130T>A c.535T>A n.9761T>A | |
19 | g.38517401T>C | CA405691641 | RYR1 | c.9667T>C (n.9667T>C) c.9728T>C (p.Ile3243Thr) c.9725T>C (p.Ile3242Thr) c.3130T>C c.535T>C n.9761T>C | |
19 | g.38517401T>G | CA405691630 | RYR1 | c.9667T>G (n.9667T>G) c.9728T>G (p.Ile3243Ser) c.9725T>G (p.Ile3242Ser) c.3130T>G c.535T>G n.9761T>G | |
19 | g.38517401_38517402delinsTC | CA2335062010 | RYR1 | c.9667_9668delinsTC (n.9667_9668delinsTC) c.9728_9729delinsTC (p.Ile3243=) c.9725_9726delinsTC (p.Ile3242=) c.3130_3131delinsTC c.535_536delinsTC n.9761_9762delinsTC | |
19 | g.38517402C>A | CA507247097 | RYR1 | c.9668C>A (n.9668C>A) c.9729C>A (p.Ile3243=) c.9726C>A (p.Ile3242=) c.3131C>A c.536C>A n.9762C>A | ClinVar dbSNP |
19 | g.38517402C= | CA2335062011 | RYR1 | c.9668C= (n.9668C=) c.9729C= (p.Ile3243=) c.9726C= (p.Ile3242=) c.3131C= c.536C= n.9762C= | |
19 | g.38517402C>G | CA405691645 | RYR1 | c.9668C>G (n.9668C>G) c.9729C>G (p.Ile3243Met) c.9726C>G (p.Ile3242Met) c.3131C>G c.536C>G n.9762C>G | |
19 | g.38517402C>T | CA507247098 | RYR1 | c.9668C>T (n.9668C>T) c.9729C>T (p.Ile3243=) c.9726C>T (p.Ile3242=) c.3131C>T c.536C>T n.9762C>T | |
19 | g.38517404del | CA882063086 | RYR1 | c.9670del (n.9670del) c.9731del (p.Pro3244ArgfsTer?) c.9728del (p.Pro3243ArgfsTer?) c.3133del c.538del n.9764del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38517403C>A | CA405691655 | RYR1 | c.9669C>A (n.9669C>A) c.9730C>A (p.Pro3244Thr) c.9727C>A (p.Pro3243Thr) c.3132C>A c.537C>A n.9763C>A | |
19 | g.38517403C>G | CA405691658 | RYR1 | c.9669C>G (n.9669C>G) c.9730C>G (p.Pro3244Ala) c.9727C>G (p.Pro3243Ala) c.3132C>G c.537C>G n.9763C>G | |
19 | g.38517403C>T | CA405691662 | RYR1 | c.9669C>T (n.9669C>T) c.9730C>T (p.Pro3244Ser) c.9727C>T (p.Pro3243Ser) c.3132C>T c.537C>T n.9763C>T | |
19 | g.38517404C>A | CA405691665 | RYR1 | c.9670C>A (n.9670C>A) c.9731C>A (p.Pro3244Gln) c.9728C>A (p.Pro3243Gln) c.3133C>A c.538C>A n.9764C>A | |
19 | g.38517404C= | CA2335062012 | RYR1 | c.9670C= (n.9670C=) c.9731C= (p.Pro3244=) c.9728C= (p.Pro3243=) c.3133C= c.538C= n.9764C= | |
19 | g.38517404C>G | CA405691676 | RYR1 | c.9670C>G (n.9670C>G) c.9731C>G (p.Pro3244Arg) c.9728C>G (p.Pro3243Arg) c.3133C>G c.538C>G n.9764C>G | |
19 | g.38517404C>T | CA308129707 | RYR1 | c.9670C>T (n.9670C>T) c.9731C>T (p.Pro3244Leu) c.9728C>T (p.Pro3243Leu) c.3133C>T c.538C>T n.9764C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517405G>A | CA074094 | RYR1 | c.9671G>A (n.9671G>A) c.9732G>A (p.Pro3244=) c.9729G>A (p.Pro3243=) c.3134G>A c.539G>A n.9765G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38517405G>C | CA507247100 | RYR1 | c.9671G>C (n.9671G>C) c.9732G>C (p.Pro3244=) c.9729G>C (p.Pro3243=) c.3134G>C c.539G>C n.9765G>C | gnomAD v4 |
19 | g.38517405G= | CA2335062013 | RYR1 | c.9671G= (n.9671G=) c.9732G= (p.Pro3244=) c.9729G= (p.Pro3243=) c.3134G= c.539G= n.9765G= | |
19 | g.38517405G>T | CA507247099 | RYR1 | c.9671G>T (n.9671G>T) c.9732G>T (p.Pro3244=) c.9729G>T (p.Pro3243=) c.3134G>T c.539G>T n.9765G>T | |
19 | g.38517406G>A | CA074100 | RYR1 | c.9672G>A (n.9672G>A) c.9733G>A (p.Val3245Met) c.9730G>A (p.Val3244Met) c.3135G>A c.540G>A n.9766G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38517406G>C | CA405691697 | RYR1 | c.9672G>C (n.9672G>C) c.9733G>C (p.Val3245Leu) c.9730G>C (p.Val3244Leu) c.3135G>C c.540G>C n.9766G>C | gnomAD v4 |
19 | g.38517406G= | CA2335062014 | RYR1 | c.9672G= (n.9672G=) c.9733G= (p.Val3245=) c.9730G= (p.Val3244=) c.3135G= c.540G= n.9766G= | |
19 | g.38517406G>T | CA405691709 | RYR1 | c.9672G>T (n.9672G>T) c.9733G>T (p.Val3245Leu) c.9730G>T (p.Val3244Leu) c.3135G>T c.540G>T n.9766G>T | |
19 | g.38517407T>A | CA405691722 | RYR1 | c.9673T>A (n.9673T>A) c.9734T>A (p.Val3245Glu) c.9731T>A (p.Val3244Glu) c.3136T>A c.541T>A n.9767T>A | |
19 | g.38517407T>C | CA405691715 | RYR1 | c.9673T>C (n.9673T>C) c.9734T>C (p.Val3245Ala) c.9731T>C (p.Val3244Ala) c.3136T>C c.541T>C n.9767T>C | |
19 | g.38517407T>G | CA405691717 | RYR1 | c.9673T>G (n.9673T>G) c.9734T>G (p.Val3245Gly) c.9731T>G (p.Val3244Gly) c.3136T>G c.541T>G n.9767T>G | |
19 | g.38517408G>A | CA084852 | RYR1 | c.9674G>A (n.9674G>A) c.9735G>A (p.Val3245=) c.9732G>A (p.Val3244=) c.3137G>A c.542G>A n.9768G>A | gnomAD v4 |
19 | g.38517408G>C | CA507247101 | RYR1 | c.9674G>C (n.9674G>C) c.9735G>C (p.Val3245=) c.9732G>C (p.Val3244=) c.3137G>C c.542G>C n.9768G>C | |
19 | g.38517408G>T | CA507247102 | RYR1 | c.9674G>T (n.9674G>T) c.9735G>T (p.Val3245=) c.9732G>T (p.Val3244=) c.3137G>T c.542G>T n.9768G>T | |
19 | g.38517409C>A | CA405691724 | RYR1 | c.9675C>A (n.9675C>A) c.9736C>A (p.Leu3246Met) c.9733C>A (p.Leu3245Met) c.3138C>A c.543C>A n.9769C>A | dbSNP gnomAD v2 |
19 | g.38517409C= | CA2335062015 | RYR1 | c.9675C= (n.9675C=) c.9736C= (p.Leu3246=) c.9733C= (p.Leu3245=) c.3138C= c.543C= n.9769C= | |
19 | g.38517409C>G | CA405691727 | RYR1 | c.9675C>G (n.9675C>G) c.9736C>G (p.Leu3246Val) c.9733C>G (p.Leu3245Val) c.3138C>G c.543C>G n.9769C>G | |
19 | g.38517409C>T | CA507247103 | RYR1 | c.9675C>T (n.9675C>T) c.9736C>T (p.Leu3246=) c.9733C>T (p.Leu3245=) c.3138C>T c.543C>T n.9769C>T | |
19 | g.38517410T>A | CA405691731 | RYR1 | c.9676T>A (n.9676T>A) c.9737T>A (p.Leu3246Gln) c.9734T>A (p.Leu3245Gln) c.3139T>A c.544T>A n.9770T>A | |
19 | g.38517410T>C | CA405691733 | RYR1 | c.9676T>C (n.9676T>C) c.9737T>C (p.Leu3246Pro) c.9734T>C (p.Leu3245Pro) c.3139T>C c.544T>C n.9770T>C | |
19 | g.38517410T>G | CA405691736 | RYR1 | c.9676T>G (n.9676T>G) c.9737T>G (p.Leu3246Arg) c.9734T>G (p.Leu3245Arg) c.3139T>G c.544T>G n.9770T>G | |
19 | g.38517411G>A | CA507247104 | RYR1 | c.9677G>A (n.9677G>A) c.9738G>A (p.Leu3246=) c.9735G>A (p.Leu3245=) c.3140G>A c.545G>A n.9771G>A | COSMIC |
19 | g.38517411G>C | CA507247105 | RYR1 | c.9677G>C (n.9677G>C) c.9738G>C (p.Leu3246=) c.9735G>C (p.Leu3245=) c.3140G>C c.545G>C n.9771G>C | |
19 | g.38517411G>T | CA507247106 | RYR1 | c.9677G>T (n.9677G>T) c.9738G>T (p.Leu3246=) c.9735G>T (p.Leu3245=) c.3140G>T c.545G>T n.9771G>T | |
19 | g.38517412G>A | CA405691739 | RYR1 | c.9678G>A (n.9678G>A) c.9739G>A (p.Glu3247Lys) c.9736G>A (p.Glu3246Lys) c.3141G>A c.546G>A n.9772G>A | gnomAD v4 |
19 | g.38517412G>C | CA405691740 | RYR1 | c.9678G>C (n.9678G>C) c.9739G>C (p.Glu3247Gln) c.9736G>C (p.Glu3246Gln) c.3141G>C c.546G>C n.9772G>C | |
19 | g.38517412G>T | CA405691743 | RYR1 | c.9678G>T (n.9678G>T) c.9739G>T (p.Glu3247Ter) c.9736G>T (p.Glu3246Ter) c.3141G>T c.546G>T n.9772G>T | |
19 | g.38517413A>C | CA405691746 | RYR1 | c.9679A>C (n.9679A>C) c.9740A>C (p.Glu3247Ala) c.9737A>C (p.Glu3246Ala) c.3142A>C c.547A>C n.9773A>C | |
19 | g.38517413A>G | CA405691751 | RYR1 | c.9679A>G (n.9679A>G) c.9740A>G (p.Glu3247Gly) c.9737A>G (p.Glu3246Gly) c.3142A>G c.547A>G n.9773A>G | |
19 | g.38517413A>T | CA405691748 | RYR1 | c.9679A>T (n.9679A>T) c.9740A>T (p.Glu3247Val) c.9737A>T (p.Glu3246Val) c.3142A>T c.547A>T n.9773A>T | |
19 | g.38517414G>A | CA507247107 | RYR1 | c.9680G>A (n.9680G>A) c.9741G>A (p.Glu3247=) c.9738G>A (p.Glu3246=) c.3143G>A c.548G>A n.9774G>A | ClinVar gnomAD v4 |
19 | g.38517414G>C | CA405691753 | RYR1 | c.9680G>C (n.9680G>C) c.9741G>C (p.Glu3247Asp) c.9738G>C (p.Glu3246Asp) c.3143G>C c.548G>C n.9774G>C | |
19 | g.38517414G>T | CA405691755 | RYR1 | c.9680G>T (n.9680G>T) c.9741G>T (p.Glu3247Asp) c.9738G>T (p.Glu3246Asp) c.3143G>T c.548G>T n.9774G>T | |
19 | g.38517415C>A | CA507247108 | RYR1 | c.9681C>A (n.9681C>A) c.9742C>A (p.Arg3248=) c.9739C>A (p.Arg3247=) c.3144C>A c.549C>A n.9775C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38517415C= | CA2335062016 | RYR1 | c.9681C= (n.9681C=) c.9742C= (p.Arg3248=) c.9739C= (p.Arg3247=) c.3144C= c.549C= n.9775C= | |
19 | g.38517415C>G | CA405691756 | RYR1 | c.9681C>G (n.9681C>G) c.9742C>G (p.Arg3248Gly) c.9739C>G (p.Arg3247Gly) c.3144C>G c.549C>G n.9775C>G | |
19 | g.38517415C>T | CA074105 | RYR1 | c.9681C>T (n.9681C>T) c.9742C>T (p.Arg3248Trp) c.9739C>T (p.Arg3247Trp) c.3144C>T c.549C>T n.9775C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517416G>A | CA074107 | RYR1 | c.9682G>A (n.9682G>A) c.9743G>A (p.Arg3248Gln) c.9740G>A (p.Arg3247Gln) c.3145G>A c.550G>A n.9776G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517416G>C | CA405691764 | RYR1 | c.9682G>C (n.9682G>C) c.9743G>C (p.Arg3248Pro) c.9740G>C (p.Arg3247Pro) c.3145G>C c.550G>C n.9776G>C | |
19 | g.38517416G= | CA2335062017 | RYR1 | c.9682G= (n.9682G=) c.9743G= (p.Arg3248=) c.9740G= (p.Arg3247=) c.3145G= c.550G= n.9776G= | |
19 | g.38517416G>T | CA405691762 | RYR1 | c.9682G>T (n.9682G>T) c.9743G>T (p.Arg3248Leu) c.9740G>T (p.Arg3247Leu) c.3145G>T c.550G>T n.9776G>T | |
19 | g.38517417G>A | CA507247109 | RYR1 | c.9683G>A (n.9683G>A) c.9744G>A (p.Arg3248=) c.9741G>A (p.Arg3247=) c.3146G>A c.551G>A n.9777G>A | |
19 | g.38517417G>C | CA507247110 | RYR1 | c.9683G>C (n.9683G>C) c.9744G>C (p.Arg3248=) c.9741G>C (p.Arg3247=) c.3146G>C c.551G>C n.9777G>C | |
19 | g.38517417G>T | CA507247111 | RYR1 | c.9683G>T (n.9683G>T) c.9744G>T (p.Arg3248=) c.9741G>T (p.Arg3247=) c.3146G>T c.551G>T n.9777G>T | |
19 | g.38517418C>A | CA405691767 | RYR1 | c.9684C>A (n.9684C>A) c.9745C>A (p.Leu3249Ile) c.9742C>A (p.Leu3248Ile) c.3147C>A c.552C>A n.9778C>A | ClinVar |
19 | g.38517418C= | CA2335062018 | RYR1 | c.9684C= (n.9684C=) c.9745C= (p.Leu3249=) c.9742C= (p.Leu3248=) c.3147C= c.552C= n.9778C= | |
19 | g.38517418C>G | CA074112 | RYR1 | c.9684C>G (n.9684C>G) c.9745C>G (p.Leu3249Val) c.9742C>G (p.Leu3248Val) c.3147C>G c.552C>G n.9778C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38517418C>T | CA084857 | RYR1 | c.9684C>T (n.9684C>T) c.9745C>T (p.Leu3249Phe) c.9742C>T (p.Leu3248Phe) c.3147C>T c.552C>T n.9778C>T | |
19 | g.38517419T>A | CA405691773 | RYR1 | c.9685T>A (n.9685T>A) c.9746T>A (p.Leu3249His) c.9743T>A (p.Leu3248His) c.3148T>A c.553T>A n.9779T>A | |
19 | g.38517419T>C | CA405691776 | RYR1 | c.9685T>C (n.9685T>C) c.9746T>C (p.Leu3249Pro) c.9743T>C (p.Leu3248Pro) c.3148T>C c.553T>C n.9779T>C | |
19 | g.38517419T>G | CA405691780 | RYR1 | c.9685T>G (n.9685T>G) c.9746T>G (p.Leu3249Arg) c.9743T>G (p.Leu3248Arg) c.3148T>G c.553T>G n.9779T>G | |
19 | g.38517420C>A | CA507247112 | RYR1 | c.9686C>A (n.9686C>A) c.9747C>A (p.Leu3249=) c.9744C>A (p.Leu3248=) c.3149C>A c.554C>A n.9780C>A | |
19 | g.38517420C>G | CA507247113 | RYR1 | c.9686C>G (n.9686C>G) c.9747C>G (p.Leu3249=) c.9744C>G (p.Leu3248=) c.3149C>G c.554C>G n.9780C>G | ClinVar |
19 | g.38517420C>T | CA507247114 | RYR1 | c.9686C>T (n.9686C>T) c.9747C>T (p.Leu3249=) c.9744C>T (p.Leu3248=) c.3149C>T c.554C>T n.9780C>T | |
19 | g.38517421A>C | CA405691784 | RYR1 | c.9687A>C (n.9687A>C) c.9748A>C (p.Met3250Leu) c.9745A>C (p.Met3249Leu) c.3150A>C c.555A>C n.9781A>C | ClinVar |
19 | g.38517421A>G | CA405691791 | RYR1 | c.9687A>G (n.9687A>G) c.9748A>G (p.Met3250Val) c.9745A>G (p.Met3249Val) c.3150A>G c.555A>G n.9781A>G | |
19 | g.38517421A>T | CA405691793 | RYR1 | c.9687A>T (n.9687A>T) c.9748A>T (p.Met3250Leu) c.9745A>T (p.Met3249Leu) c.3150A>T c.555A>T n.9781A>T | |
19 | g.38517422T>A | CA405691796 | RYR1 | c.9688T>A (n.9688T>A) c.9749T>A (p.Met3250Lys) c.9746T>A (p.Met3249Lys) c.3151T>A c.556T>A n.9782T>A | |
19 | g.38517422T>C | CA405691803 | RYR1 | c.9688T>C (n.9688T>C) c.9749T>C (p.Met3250Thr) c.9746T>C (p.Met3249Thr) c.3151T>C c.556T>C n.9782T>C | |
19 | g.38517422T>G | CA405691804 | RYR1 | c.9688T>G (n.9688T>G) c.9749T>G (p.Met3250Arg) c.9746T>G (p.Met3249Arg) c.3151T>G c.556T>G n.9782T>G | |
19 | g.38517423G>A | CA405691808 | RYR1 | c.9689G>A (n.9689G>A) c.9750G>A (p.Met3250Ile) c.9747G>A (p.Met3249Ile) c.3152G>A c.557G>A n.9783G>A | gnomAD v4 |
19 | g.38517423G>C | CA405691810 | RYR1 | c.9689G>C (n.9689G>C) c.9750G>C (p.Met3250Ile) c.9747G>C (p.Met3249Ile) c.3152G>C c.557G>C n.9783G>C | |
19 | g.38517423G>T | CA405691809 | RYR1 | c.9689G>T (n.9689G>T) c.9750G>T (p.Met3250Ile) c.9747G>T (p.Met3249Ile) c.3152G>T c.557G>T n.9783G>T | |
19 | g.38517424G>A | CA405691812 | RYR1 | c.9690G>A (n.9690G>A) c.9751G>A (p.Ala3251Thr) c.9748G>A (p.Ala3250Thr) c.3153G>A c.558G>A n.9784G>A | |
19 | g.38517424G>C | CA405691814 | RYR1 | c.9690G>C (n.9690G>C) c.9751G>C (p.Ala3251Pro) c.9748G>C (p.Ala3250Pro) c.3153G>C c.558G>C n.9784G>C | |
19 | g.38517424G>T | CA405691816 | RYR1 | c.9690G>T (n.9690G>T) c.9751G>T (p.Ala3251Ser) c.9748G>T (p.Ala3250Ser) c.3153G>T c.558G>T n.9784G>T | |
19 | g.38517425C>A | CA405691818 | RYR1 | c.9691C>A (n.9691C>A) c.9752C>A (p.Ala3251Glu) c.9749C>A (p.Ala3250Glu) c.3154C>A c.559C>A n.9785C>A | |
19 | g.38517425C>G | CA405691819 | RYR1 | c.9691C>G (n.9691C>G) c.9752C>G (p.Ala3251Gly) c.9749C>G (p.Ala3250Gly) c.3154C>G c.559C>G n.9785C>G | gnomAD v4 |
19 | g.38517425C>T | CA405691826 | RYR1 | c.9691C>T (n.9691C>T) c.9752C>T (p.Ala3251Val) c.9749C>T (p.Ala3250Val) c.3154C>T c.559C>T n.9785C>T | ClinVar |
19 | g.38517426A>C | CA507247115 | RYR1 | c.9692A>C (n.9692A>C) c.9753A>C (p.Ala3251=) c.9750A>C (p.Ala3250=) c.3155A>C c.560A>C n.9786A>C | |
19 | g.38517426A>G | CA507247116 | RYR1 | c.9692A>G (n.9692A>G) c.9753A>G (p.Ala3251=) c.9750A>G (p.Ala3250=) c.3155A>G c.560A>G n.9786A>G | |
19 | g.38517426A>T | CA507247117 | RYR1 | c.9692A>T (n.9692A>T) c.9753A>T (p.Ala3251=) c.9750A>T (p.Ala3250=) c.3155A>T c.560A>T n.9786A>T | |
19 | g.38517427G>A | CA405691833 | RYR1 | c.9693G>A (n.9693G>A) c.9754G>A (p.Asp3252Asn) c.9751G>A (p.Asp3251Asn) c.3156G>A c.561G>A n.9787G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38517427G>C | CA405691829 | RYR1 | c.9693G>C (n.9693G>C) c.9754G>C (p.Asp3252His) c.9751G>C (p.Asp3251His) c.3156G>C c.561G>C n.9787G>C | |
19 | g.38517427G= | CA2335062019 | RYR1 | c.9693G= (n.9693G=) c.9754G= (p.Asp3252=) c.9751G= (p.Asp3251=) c.3156G= c.561G= n.9787G= | |
19 | g.38517427G>T | CA405691830 | RYR1 | c.9693G>T (n.9693G>T) c.9754G>T (p.Asp3252Tyr) c.9751G>T (p.Asp3251Tyr) c.3156G>T c.561G>T n.9787G>T | |
19 | g.38517428A= | CA2335062020 | RYR1 | c.9694A= (n.9694A=) c.9755A= (p.Asp3252=) c.9752A= (p.Asp3251=) c.3157A= c.562A= n.9788A= | |
19 | g.38517428A>C | CA405691837 | RYR1 | c.9694A>C (n.9694A>C) c.9755A>C (p.Asp3252Ala) c.9752A>C (p.Asp3251Ala) c.3157A>C c.562A>C n.9788A>C | |
19 | g.38517428A>G | CA405691841 | RYR1 | c.9694A>G (n.9694A>G) c.9755A>G (p.Asp3252Gly) c.9752A>G (p.Asp3251Gly) c.3157A>G c.562A>G n.9788A>G | |
19 | g.38517428A>T | CA405691844 | RYR1 | c.9694A>T (n.9694A>T) c.9755A>T (p.Asp3252Val) c.9752A>T (p.Asp3251Val) c.3157A>T c.562A>T n.9788A>T | dbSNP |
19 | g.38517429C>A | CA405691847 | RYR1 | c.9695C>A (n.9695C>A) c.9756C>A (p.Asp3252Glu) c.9753C>A (p.Asp3251Glu) c.3158C>A c.563C>A n.9789C>A | |
19 | g.38517429C>G | CA405691849 | RYR1 | c.9695C>G (n.9695C>G) c.9756C>G (p.Asp3252Glu) c.9753C>G (p.Asp3251Glu) c.3158C>G c.563C>G n.9789C>G | |
19 | g.38517429C>T | CA507247118 | RYR1 | c.9695C>T (n.9695C>T) c.9756C>T (p.Asp3252=) c.9753C>T (p.Asp3251=) c.3158C>T c.563C>T n.9789C>T | |
19 | g.38517430A= | CA2335062021 | RYR1 | c.9696A= (n.9696A=) c.9757A= (p.Ile3253=) c.9754A= (p.Ile3252=) c.3159A= c.564A= | |
19 | g.38517430A>C | CA405691855 | RYR1 | c.9696A>C (n.9696A>C) c.9757A>C (p.Ile3253Leu) c.9754A>C (p.Ile3252Leu) c.3159A>C c.564A>C | |
19 | g.38517430A>G | CA405691857 | RYR1 | c.9696A>G (n.9696A>G) c.9757A>G (p.Ile3253Val) c.9754A>G (p.Ile3252Val) c.3159A>G c.564A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38517430A>T | CA405691856 | RYR1 | c.9696A>T (n.9696A>T) c.9757A>T (p.Ile3253Phe) c.9754A>T (p.Ile3252Phe) c.3159A>T c.564A>T | dbSNP |
19 | g.38517431T>A | CA405691858 | RYR1 | c.9697T>A (n.9697T>A) c.9758T>A (p.Ile3253Asn) c.9755T>A (p.Ile3252Asn) c.3160T>A c.565T>A | |
19 | g.38517431T>C | CA025003 | RYR1 | c.9697T>C (n.9697T>C) c.9758T>C (p.Ile3253Thr) c.9755T>C (p.Ile3252Thr) c.3160T>C c.565T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517431T>G | CA405691859 | RYR1 | c.9697T>G (n.9697T>G) c.9758T>G (p.Ile3253Ser) c.9755T>G (p.Ile3252Ser) c.3160T>G c.565T>G | |
19 | g.38517431T= | CA2335062022 | RYR1 | c.9697T= (n.9697T=) c.9758T= (p.Ile3253=) c.9755T= (p.Ile3252=) c.3160T= c.565T= | |
19 | g.38517432T>A | CA507247119 | RYR1 | c.9698T>A (n.9698T>A) c.9759T>A (p.Ile3253=) c.9756T>A (p.Ile3252=) c.3161T>A c.566T>A | |
19 | g.38517432T>C | CA507247120 | RYR1 | c.9698T>C (n.9698T>C) c.9759T>C (p.Ile3253=) c.9756T>C (p.Ile3252=) c.3161T>C c.566T>C | dbSNP gnomAD v4 |
19 | g.38517432T>G | CA405691860 | RYR1 | c.9698T>G (n.9698T>G) c.9759T>G (p.Ile3253Met) c.9756T>G (p.Ile3252Met) c.3161T>G c.566T>G | |
19 | g.38517432_38517433delinsTG | CA2335062023 | RYR1 | c.9698_9699delinsTG (n.9698_9699delinsTG) c.9759_9760delinsTG (p.Ile3253=) c.9756_9757delinsTG (p.Ile3252=) c.3161_3162delinsTG c.566_567delinsTG | |
19 | g.38517433G>A | CA405691863 | RYR1 | c.9699G>A (n.9699G>A) c.9760G>A (p.Gly3254Arg) c.9757G>A (p.Gly3253Arg) c.3162G>A c.567G>A | ClinVar COSMIC |
19 | g.38517433G>C | CA405691869 | RYR1 | c.9699G>C (n.9699G>C) c.9760G>C (p.Gly3254Arg) c.9757G>C (p.Gly3253Arg) c.3162G>C c.567G>C | |
19 | g.38517433G>T | CA405691871 | RYR1 | c.9699G>T (n.9699G>T) c.9760G>T (p.Gly3254Trp) c.9757G>T (p.Gly3253Trp) c.3162G>T c.567G>T | |
19 | g.38517438dup | CA645372290 | RYR1 | c.9704dup (n.9704dup) c.9765dup (p.Leu3256AlafsTer?) c.9762dup (p.Leu3255AlafsTer?) c.3167dup c.572dup | dbSNP gnomAD v4 |
19 | g.38517438del | CA633066705 | RYR1 | c.9704del (n.9704del) c.9765del (p.Leu3256TrpfsTer?) c.9762del (p.Leu3255TrpfsTer?) c.3167del c.572del | dbSNP gnomAD v2 |
19 | g.38517434G>A | CA405691874 | RYR1 | c.9700G>A (n.9700G>A) c.9761G>A (p.Gly3254Glu) c.9758G>A (p.Gly3253Glu) c.3163G>A c.568G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517434G>C | CA405691875 | RYR1 | c.9700G>C (n.9700G>C) c.9761G>C (p.Gly3254Ala) c.9758G>C (p.Gly3253Ala) c.3163G>C c.568G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38517434G= | CA2335062024 | RYR1 | c.9700G= (n.9700G=) c.9761G= (p.Gly3254=) c.9758G= (p.Gly3253=) c.3163G= c.568G= | |
19 | g.38517434G>T | CA405691878 | RYR1 | c.9700G>T (n.9700G>T) c.9761G>T (p.Gly3254Val) c.9758G>T (p.Gly3253Val) c.3163G>T c.568G>T | ClinVar |
19 | g.38517435G>A | CA507247123 | RYR1 | c.9701G>A (n.9701G>A) c.9762G>A (p.Gly3254=) c.9759G>A (p.Gly3253=) c.3164G>A c.569G>A | gnomAD v4 |
19 | g.38517435G>C | CA507247122 | RYR1 | c.9701G>C (n.9701G>C) c.9762G>C (p.Gly3254=) c.9759G>C (p.Gly3253=) c.3164G>C c.569G>C | |
19 | g.38517435G>T | CA507247121 | RYR1 | c.9701G>T (n.9701G>T) c.9762G>T (p.Gly3254=) c.9759G>T (p.Gly3253=) c.3164G>T c.569G>T | |
19 | g.38517436G>A | CA405691884 | RYR1 | c.9702G>A (n.9702G>A) c.9763G>A (p.Gly3255Arg) c.9760G>A (p.Gly3254Arg) c.3165G>A c.570G>A | ClinVar |
19 | g.38517436G>C | CA405691887 | RYR1 | c.9702G>C (n.9702G>C) c.9763G>C (p.Gly3255Arg) c.9760G>C (p.Gly3254Arg) c.3165G>C c.570G>C | |
19 | g.38517436G>T | CA405691885 | RYR1 | c.9702G>T (n.9702G>T) c.9763G>T (p.Gly3255Trp) c.9760G>T (p.Gly3254Trp) c.3165G>T c.570G>T | ClinVar |
19 | g.38517437G>A | CA405691891 | RYR1 | c.9703G>A (n.9703G>A) c.9764G>A (p.Gly3255Glu) c.9761G>A (p.Gly3254Glu) c.3166G>A c.571G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517437G>C | CA405691896 | RYR1 | c.9703G>C (n.9703G>C) c.9764G>C (p.Gly3255Ala) c.9761G>C (p.Gly3254Ala) c.3166G>C c.571G>C | |
19 | g.38517437G= | CA2335062025 | RYR1 | c.9703G= (n.9703G=) c.9764G= (p.Gly3255=) c.9761G= (p.Gly3254=) c.3166G= c.571G= | |
19 | g.38517437G>T | CA405691893 | RYR1 | c.9703G>T (n.9703G>T) c.9764G>T (p.Gly3255Val) c.9761G>T (p.Gly3254Val) c.3166G>T c.571G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38517438G>A | CA507247124 | RYR1 | c.9704G>A (n.9704G>A) c.9765G>A (p.Gly3255=) c.9762G>A (p.Gly3254=) c.3167G>A c.572G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38517438G>C | CA507247125 | RYR1 | c.9704G>C (n.9704G>C) c.9765G>C (p.Gly3255=) c.9762G>C (p.Gly3254=) c.3167G>C c.572G>C | |
19 | g.38517438G= | CA2335062026 | RYR1 | c.9704G= (n.9704G=) c.9765G= (p.Gly3255=) c.9762G= (p.Gly3254=) c.3167G= c.572G= | |
19 | g.38517438G>T | CA507247126 | RYR1 | c.9704G>T (n.9704G>T) c.9765G>T (p.Gly3255=) c.9762G>T (p.Gly3254=) c.3167G>T c.572G>T | COSMIC |
19 | g.38517439C>A | CA405691899 | RYR1 | c.9705C>A (n.9705C>A) c.9766C>A (p.Leu3256Met) c.9763C>A (p.Leu3255Met) c.3168C>A c.573C>A | |
19 | g.38517439C>G | CA405691900 | RYR1 | c.9705C>G (n.9705C>G) c.9766C>G (p.Leu3256Val) c.9763C>G (p.Leu3255Val) c.3168C>G c.573C>G | |
19 | g.38517439C>T | CA507247127 | RYR1 | c.9705C>T (n.9705C>T) c.9766C>T (p.Leu3256=) c.9763C>T (p.Leu3255=) c.3168C>T c.573C>T | |
19 | g.38517440T>A | CA074123 | RYR1 | c.9706T>A (n.9706T>A) c.9767T>A (p.Leu3256Gln) c.9764T>A (p.Leu3255Gln) c.3169T>A c.574T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38517440T>C | CA405691905 | RYR1 | c.9706T>C (n.9706T>C) c.9767T>C (p.Leu3256Pro) c.9764T>C (p.Leu3255Pro) c.3169T>C c.574T>C | |
19 | g.38517440T>G | CA405691917 | RYR1 | c.9706T>G (n.9706T>G) c.9767T>G (p.Leu3256Arg) c.9764T>G (p.Leu3255Arg) c.3169T>G c.574T>G | |
19 | g.38517440T= | CA2335062027 | RYR1 | c.9706T= (n.9706T=) c.9767T= (p.Leu3256=) c.9764T= (p.Leu3255=) c.3169T= c.574T= | |
19 | g.38517441G>A | CA507247128 | RYR1 | c.9707G>A (n.9707G>A) c.9768G>A (p.Leu3256=) c.9765G>A (p.Leu3255=) c.3170G>A c.575G>A | |
19 | g.38517441G>C | CA507247129 | RYR1 | c.9707G>C (n.9707G>C) c.9768G>C (p.Leu3256=) c.9765G>C (p.Leu3255=) c.3170G>C c.575G>C | |
19 | g.38517441G>T | CA507247130 | RYR1 | c.9707G>T (n.9707G>T) c.9768G>T (p.Leu3256=) c.9765G>T (p.Leu3255=) c.3170G>T c.575G>T | |
19 | g.38517442G>A | CA405691920 | RYR1 | c.9708G>A (n.9708G>A) c.9769G>A (p.Ala3257Thr) c.9766G>A (p.Ala3256Thr) c.3171G>A c.576G>A | |
19 | g.38517442G>C | CA405691927 | RYR1 | c.9708G>C (n.9708G>C) c.9769G>C (p.Ala3257Pro) c.9766G>C (p.Ala3256Pro) c.3171G>C c.576G>C | ClinVar |
19 | g.38517442G>T | CA405691929 | RYR1 | c.9708G>T (n.9708G>T) c.9769G>T (p.Ala3257Ser) c.9766G>T (p.Ala3256Ser) c.3171G>T c.576G>T | |
19 | g.38517443C>A | CA405691930 | RYR1 | c.9709C>A (n.9709C>A) c.9770C>A (p.Ala3257Asp) c.9767C>A (p.Ala3256Asp) c.3172C>A c.577C>A | |
19 | g.38517443C>G | CA405691932 | RYR1 | c.9709C>G (n.9709C>G) c.9770C>G (p.Ala3257Gly) c.9767C>G (p.Ala3256Gly) c.3172C>G c.577C>G | |
19 | g.38517443C>T | CA405691936 | RYR1 | c.9709C>T (n.9709C>T) c.9770C>T (p.Ala3257Val) c.9767C>T (p.Ala3256Val) c.3172C>T c.577C>T | gnomAD v4 COSMIC |
19 | g.38517444C>A | CA507247131 | RYR1 | c.9710C>A (n.9710C>A) c.9771C>A (p.Ala3257=) c.9768C>A (p.Ala3256=) c.3173C>A c.578C>A | |
19 | g.38517444C= | CA2335062028 | RYR1 | c.9710C= (n.9710C=) c.9771C= (p.Ala3257=) c.9768C= (p.Ala3256=) c.3173C= c.578C= | |
19 | g.38517444C>G | CA507247132 | RYR1 | c.9710C>G (n.9710C>G) c.9771C>G (p.Ala3257=) c.9768C>G (p.Ala3256=) c.3173C>G c.578C>G | |
19 | g.38517444C>T | CA074125 | RYR1 | c.9710C>T (n.9710C>T) c.9771C>T (p.Ala3257=) c.9768C>T (p.Ala3256=) c.3173C>T c.578C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517445G>A | CA074130 | RYR1 | c.9711G>A (n.9711G>A) c.9772G>A (p.Glu3258Lys) c.9769G>A (p.Glu3257Lys) c.3174G>A c.579G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517445G>C | CA405691942 | RYR1 | c.9711G>C (n.9711G>C) c.9772G>C (p.Glu3258Gln) c.9769G>C (p.Glu3257Gln) c.3174G>C c.579G>C | ClinVar dbSNP |
19 | g.38517445G= | CA2335062029 | RYR1 | c.9711G= (n.9711G=) c.9772G= (p.Glu3258=) c.9769G= (p.Glu3257=) c.3174G= c.579G= | |
19 | g.38517445G>T | CA405691941 | RYR1 | c.9711G>T (n.9711G>T) c.9772G>T (p.Glu3258Ter) c.9769G>T (p.Glu3257Ter) c.3174G>T c.579G>T | |
19 | g.38517446A>C | CA405691946 | RYR1 | c.9712A>C (n.9712A>C) c.9773A>C (p.Glu3258Ala) c.9770A>C (p.Glu3257Ala) c.3175A>C c.580A>C | |
19 | g.38517446A>G | CA405691949 | RYR1 | c.9712A>G (n.9712A>G) c.9773A>G (p.Glu3258Gly) c.9770A>G (p.Glu3257Gly) c.3175A>G c.580A>G | |
19 | g.38517446A>T | CA405691952 | RYR1 | c.9712A>T (n.9712A>T) c.9773A>T (p.Glu3258Val) c.9770A>T (p.Glu3257Val) c.3175A>T c.580A>T | |
19 | g.38517447G>A | CA308129743 | RYR1 | c.9713G>A (n.9713G>A) c.9774G>A (p.Glu3258=) c.9771G>A (p.Glu3257=) c.3176G>A c.581G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38517447G>C | CA405691956 | RYR1 | c.9713G>C (n.9713G>C) c.9774G>C (p.Glu3258Asp) c.9771G>C (p.Glu3257Asp) c.3176G>C c.581G>C | |
19 | g.38517447G= | CA2335062030 | RYR1 | c.9713G= (n.9713G=) c.9774G= (p.Glu3258=) c.9771G= (p.Glu3257=) c.3176G= c.581G= | |
19 | g.38517447G>T | CA405691958 | RYR1 | c.9713G>T (n.9713G>T) c.9774G>T (p.Glu3258Asp) c.9771G>T (p.Glu3257Asp) c.3176G>T c.581G>T | |
19 | g.38517448T>A | CA405691961 | RYR1 | c.9714T>A (n.9714T>A) c.9775T>A (p.Ser3259Thr) c.9772T>A (p.Ser3258Thr) c.3177T>A c.582T>A | |
19 | g.38517448T>C | CA405691965 | RYR1 | c.9714T>C (n.9714T>C) c.9775T>C (p.Ser3259Pro) c.9772T>C (p.Ser3258Pro) c.3177T>C c.582T>C | |
19 | g.38517448T>G | CA074134 | RYR1 | c.9714T>G (n.9714T>G) c.9775T>G (p.Ser3259Ala) c.9772T>G (p.Ser3258Ala) c.3177T>G c.582T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38517448T= | CA2335062031 | RYR1 | c.9714T= (n.9714T=) c.9775T= (p.Ser3259=) c.9772T= (p.Ser3258=) c.3177T= c.582T= | |
19 | g.38517449C>A | CA405691968 | RYR1 | c.9715C>A (n.9715C>A) c.9776C>A (p.Ser3259Ter) c.9773C>A (p.Ser3258Ter) c.3178C>A c.583C>A | |
19 | g.38517449C>G | CA405691972 | RYR1 | c.9715C>G (n.9715C>G) c.9776C>G (p.Ser3259Ter) c.9773C>G (p.Ser3258Ter) c.3178C>G c.583C>G | |
19 | g.38517449C>T | CA405691973 | RYR1 | c.9715C>T (n.9715C>T) c.9776C>T (p.Ser3259Leu) c.9773C>T (p.Ser3258Leu) c.3178C>T c.583C>T | |
19 | g.38517450A= | CA2335062032 | RYR1 | c.9716A= (n.9716A=) c.9777A= (p.Ser3259=) c.9774A= (p.Ser3258=) c.3179A= c.584A= | |
19 | g.38517450A>C | CA507247135 | RYR1 | c.9716A>C (n.9716A>C) c.9777A>C (p.Ser3259=) c.9774A>C (p.Ser3258=) c.3179A>C c.584A>C | |
19 | g.38517450A>G | CA507247134 | RYR1 | c.9716A>G (n.9716A>G) c.9777A>G (p.Ser3259=) c.9774A>G (p.Ser3258=) c.3179A>G c.584A>G | ClinVar dbSNP |
19 | g.38517450A>T | CA507247133 | RYR1 | c.9716A>T (n.9716A>T) c.9777A>T (p.Ser3259=) c.9774A>T (p.Ser3258=) c.3179A>T c.584A>T | |
19 | g.38517451G>A | CA405691975 | RYR1 | c.9717G>A (n.9717G>A) c.9778G>A (p.Gly3260Ser) c.9775G>A (p.Gly3259Ser) c.3180G>A c.585G>A | |
19 | g.38517451G>C | CA405691978 | RYR1 | c.9717G>C (n.9717G>C) c.9778G>C (p.Gly3260Arg) c.9775G>C (p.Gly3259Arg) c.3180G>C c.585G>C | |
19 | g.38517451G>T | CA405691974 | RYR1 | c.9717G>T (n.9717G>T) c.9778G>T (p.Gly3260Cys) c.9775G>T (p.Gly3259Cys) c.3180G>T c.585G>T | |
19 | g.38517452G>A | CA405691985 | RYR1 | c.9718G>A (n.9718G>A) c.9779G>A (p.Gly3260Asp) c.9776G>A (p.Gly3259Asp) c.3181G>A c.586G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38517452G>C | CA405691987 | RYR1 | c.9718G>C (n.9718G>C) c.9779G>C (p.Gly3260Ala) c.9776G>C (p.Gly3259Ala) c.3181G>C c.586G>C | |
19 | g.38517452G= | CA2335062033 | RYR1 | c.9718G= (n.9718G=) c.9779G= (p.Gly3260=) c.9776G= (p.Gly3259=) c.3181G= c.586G= | |
19 | g.38517452G>T | CA405691989 | RYR1 | c.9718G>T (n.9718G>T) c.9779G>T (p.Gly3260Val) c.9776G>T (p.Gly3259Val) c.3181G>T c.586G>T | |
19 | g.38517453T>A | CA507247138 | RYR1 | c.9719T>A (n.9719T>A) c.9780T>A (p.Gly3260=) c.9777T>A (p.Gly3259=) c.3182T>A c.587T>A | |
19 | g.38517453T>C | CA507247137 | RYR1 | c.9719T>C (n.9719T>C) c.9780T>C (p.Gly3260=) c.9777T>C (p.Gly3259=) c.3182T>C c.587T>C | |
19 | g.38517453T>G | CA507247136 | RYR1 | c.9719T>G (n.9719T>G) c.9780T>G (p.Gly3260=) c.9777T>G (p.Gly3259=) c.3182T>G c.587T>G | ClinVar |
19 | g.38517454G>A | CA405691992 | RYR1 | c.9720G>A (n.9720G>A) c.9781G>A (p.Ala3261Thr) c.9778G>A (p.Ala3260Thr) c.3183G>A c.588G>A | |
19 | g.38517454G>C | CA405691993 | RYR1 | c.9720G>C (n.9720G>C) c.9781G>C (p.Ala3261Pro) c.9778G>C (p.Ala3260Pro) c.3183G>C c.588G>C | |
19 | g.38517454G>T | CA405691995 | RYR1 | c.9720G>T (n.9720G>T) c.9781G>T (p.Ala3261Ser) c.9778G>T (p.Ala3260Ser) c.3183G>T c.588G>T | |
19 | g.38517455C>A | CA405691999 | RYR1 | c.9721C>A (n.9721C>A) c.9782C>A (p.Ala3261Asp) c.9779C>A (p.Ala3260Asp) c.3184C>A c.589C>A | |
19 | g.38517455C>G | CA405692000 | RYR1 | c.9721C>G (n.9721C>G) c.9782C>G (p.Ala3261Gly) c.9779C>G (p.Ala3260Gly) c.3184C>G c.589C>G | |
19 | g.38517455C>T | CA405692001 | RYR1 | c.9721C>T (n.9721C>T) c.9782C>T (p.Ala3261Val) c.9779C>T (p.Ala3260Val) c.3184C>T c.589C>T | |
19 | g.38517456C>A | CA507247139 | RYR1 | c.9722C>A (n.9722C>A) c.9783C>A (p.Ala3261=) c.9780C>A (p.Ala3260=) c.3185C>A c.590C>A | |
19 | g.38517456C= | CA2335062034 | RYR1 | c.9722C= (n.9722C=) c.9783C= (p.Ala3261=) c.9780C= (p.Ala3260=) c.3185C= c.590C= | |
19 | g.38517456C>G | CA507247141 | RYR1 | c.9722C>G (n.9722C>G) c.9783C>G (p.Ala3261=) c.9780C>G (p.Ala3260=) c.3185C>G c.590C>G | |
19 | g.38517456C>T | CA507247140 | RYR1 | c.9722C>T (n.9722C>T) c.9783C>T (p.Ala3261=) c.9780C>T (p.Ala3260=) c.3185C>T c.590C>T | dbSNP |
19 | g.38517457C>A | CA405692002 | RYR1 | c.9723C>A (n.9723C>A) c.9784C>A (p.Arg3262Ser) c.9781C>A (p.Arg3261Ser) c.3186C>A c.591C>A | |
19 | g.38517457C= | CA2335062035 | RYR1 | c.9723C= (n.9723C=) c.9784C= (p.Arg3262=) c.9781C= (p.Arg3261=) c.3186C= c.591C= | |
19 | g.38517457C>G | CA405692003 | RYR1 | c.9723C>G (n.9723C>G) c.9784C>G (p.Arg3262Gly) c.9781C>G (p.Arg3261Gly) c.3186C>G c.591C>G | |
19 | g.38517457C>T | CA074141 | RYR1 | c.9723C>T (n.9723C>T) c.9784C>T (p.Arg3262Cys) c.9781C>T (p.Arg3261Cys) c.3186C>T c.591C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517458G>A | CA074146 | RYR1 | c.9724G>A (n.9724G>A) c.9785G>A (p.Arg3262His) c.9782G>A (p.Arg3261His) c.3187G>A c.592G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517458G>C | CA074149 | RYR1 | c.9724G>C (n.9724G>C) c.9785G>C (p.Arg3262Pro) c.9782G>C (p.Arg3261Pro) c.3187G>C c.592G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38517458G= | CA2335062036 | RYR1 | c.9724G= (n.9724G=) c.9785G= (p.Arg3262=) c.9782G= (p.Arg3261=) c.3187G= c.592G= | |
19 | g.38517458G>T | CA405692004 | RYR1 | c.9724G>T (n.9724G>T) c.9785G>T (p.Arg3262Leu) c.9782G>T (p.Arg3261Leu) c.3187G>T c.592G>T | |
19 | g.38517459C>A | CA507247142 | RYR1 | c.9725C>A (n.9725C>A) c.9786C>A (p.Arg3262=) c.9783C>A (p.Arg3261=) c.3188C>A c.593C>A | |
19 | g.38517459C>G | CA507247143 | RYR1 | c.9725C>G (n.9725C>G) c.9786C>G (p.Arg3262=) c.9783C>G (p.Arg3261=) c.3188C>G c.593C>G | |
19 | g.38517459C>T | CA507247144 | RYR1 | c.9725C>T (n.9725C>T) c.9786C>T (p.Arg3262=) c.9783C>T (p.Arg3261=) c.3188C>T c.593C>T | |
19 | g.38517460T>A | CA405692009 | RYR1 | c.9726T>A (n.9726T>A) c.9787T>A (p.Tyr3263Asn) c.9784T>A (p.Tyr3262Asn) c.3189T>A c.594T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38517460T>C | CA405692010 | RYR1 | c.9726T>C (n.9726T>C) c.9787T>C (p.Tyr3263His) c.9784T>C (p.Tyr3262His) c.3189T>C c.594T>C | |
19 | g.38517460T>G | CA405692011 | RYR1 | c.9726T>G (n.9726T>G) c.9787T>G (p.Tyr3263Asp) c.9784T>G (p.Tyr3262Asp) c.3189T>G c.594T>G | |
19 | g.38517460T= | CA2335062037 | RYR1 | c.9726T= (n.9726T=) c.9787T= (p.Tyr3263=) c.9784T= (p.Tyr3262=) c.3189T= c.594T= | |
19 | g.38517461A>C | CA405692013 | RYR1 | c.9727A>C (n.9727A>C) c.9788A>C (p.Tyr3263Ser) c.9785A>C (p.Tyr3262Ser) c.3190A>C c.595A>C | |
19 | g.38517461A>G | CA405692015 | RYR1 | c.9727A>G (n.9727A>G) c.9788A>G (p.Tyr3263Cys) c.9785A>G (p.Tyr3262Cys) c.3190A>G c.595A>G | |
19 | g.38517461A>T | CA405692016 | RYR1 | c.9727A>T (n.9727A>T) c.9788A>T (p.Tyr3263Phe) c.9785A>T (p.Tyr3262Phe) c.3190A>T c.595A>T | |
19 | g.38517462C>A | CA405692018 | RYR1 | c.9728C>A (n.9728C>A) c.9789C>A (p.Tyr3263Ter) c.9786C>A (p.Tyr3262Ter) c.3191C>A c.596C>A | |
19 | g.38517462C= | CA2335062038 | RYR1 | c.9728C= (n.9728C=) c.9789C= (p.Tyr3263=) c.9786C= (p.Tyr3262=) c.3191C= c.596C= | |
19 | g.38517462C>G | CA405692020 | RYR1 | c.9728C>G (n.9728C>G) c.9789C>G (p.Tyr3263Ter) c.9786C>G (p.Tyr3262Ter) c.3191C>G c.596C>G | |
19 | g.38517462C>T | CA074153 | RYR1 | c.9728C>T (n.9728C>T) c.9789C>T (p.Tyr3263=) c.9786C>T (p.Tyr3262=) c.3191C>T c.596C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517463A= | CA2335062039 | RYR1 | c.9729A= (n.9729A=) c.9790A= (p.Thr3264=) c.9787A= (p.Thr3263=) c.3192A= c.597A= | |
19 | g.38517463A>C | CA405692033 | RYR1 | c.9729A>C (n.9729A>C) c.9790A>C (p.Thr3264Pro) c.9787A>C (p.Thr3263Pro) c.3192A>C c.597A>C | dbSNP |
19 | g.38517463A>G | CA405692035 | RYR1 | c.9729A>G (n.9729A>G) c.9790A>G (p.Thr3264Ala) c.9787A>G (p.Thr3263Ala) c.3192A>G c.597A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38517463A>T | CA405692036 | RYR1 | c.9729A>T (n.9729A>T) c.9790A>T (p.Thr3264Ser) c.9787A>T (p.Thr3263Ser) c.3192A>T c.597A>T | |
19 | g.38517464C>A | CA405692041 | RYR1 | c.9730C>A (n.9730C>A) c.9791C>A (p.Thr3264Lys) c.9788C>A (p.Thr3263Lys) c.3193C>A c.598C>A | |
19 | g.38517464C>G | CA405692044 | RYR1 | c.9730C>G (n.9730C>G) c.9791C>G (p.Thr3264Arg) c.9788C>G (p.Thr3263Arg) c.3193C>G c.598C>G | gnomAD v4 |
19 | g.38517464C>T | CA405692038 | RYR1 | c.9730C>T (n.9730C>T) c.9791C>T (p.Thr3264Ile) c.9788C>T (p.Thr3263Ile) c.3193C>T c.598C>T | ClinVar |
19 | g.38517465A>C | CA507247145 | RYR1 | c.9731A>C (n.9731A>C) c.9792A>C (p.Thr3264=) c.9789A>C (p.Thr3263=) c.3194A>C c.599A>C | |
19 | g.38517465A>G | CA507247146 | RYR1 | c.9731A>G (n.9731A>G) c.9792A>G (p.Thr3264=) c.9789A>G (p.Thr3263=) c.3194A>G c.599A>G | gnomAD v4 |
19 | g.38517465A>T | CA507247147 | RYR1 | c.9731A>T (n.9731A>T) c.9792A>T (p.Thr3264=) c.9789A>T (p.Thr3263=) c.3194A>T c.599A>T | |
19 | g.38517466G>A | CA405692051 | RYR1 | c.9732G>A (n.9732G>A) c.9793G>A (p.Glu3265Lys) c.9790G>A (p.Glu3264Lys) c.3195G>A c.600G>A | |
19 | g.38517466G>C | CA405692048 | RYR1 | c.9732G>C (n.9732G>C) c.9793G>C (p.Glu3265Gln) c.9790G>C (p.Glu3264Gln) c.3195G>C c.600G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517466G= | CA2335062040 | RYR1 | c.9732G= (n.9732G=) c.9793G= (p.Glu3265=) c.9790G= (p.Glu3264=) c.3195G= c.600G= | |
19 | g.38517466G>T | CA405692050 | RYR1 | c.9732G>T (n.9732G>T) c.9793G>T (p.Glu3265Ter) c.9790G>T (p.Glu3264Ter) c.3195G>T c.600G>T | |
19 | g.38517467A>C | CA405692053 | RYR1 | c.9733A>C (n.9733A>C) c.9794A>C (p.Glu3265Ala) c.9791A>C (p.Glu3264Ala) c.3196A>C c.601A>C | |
19 | g.38517467A>G | CA405692056 | RYR1 | c.9733A>G (n.9733A>G) c.9794A>G (p.Glu3265Gly) c.9791A>G (p.Glu3264Gly) c.3196A>G c.601A>G | |
19 | g.38517467A>T | CA405692058 | RYR1 | c.9733A>T (n.9733A>T) c.9794A>T (p.Glu3265Val) c.9791A>T (p.Glu3264Val) c.3196A>T c.601A>T | |
19 | g.38517468G>A | CA507247148 | RYR1 | c.9734G>A (n.9734G>A) c.9795G>A (p.Glu3265=) c.9792G>A (p.Glu3264=) c.3197G>A c.602G>A | COSMIC |
19 | g.38517468G>C | CA405692060 | RYR1 | c.9734G>C (n.9734G>C) c.9795G>C (p.Glu3265Asp) c.9792G>C (p.Glu3264Asp) c.3197G>C c.602G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517468G= | CA2335062041 | RYR1 | c.9734G= (n.9734G=) c.9795G= (p.Glu3265=) c.9792G= (p.Glu3264=) c.3197G= c.602G= | |
19 | g.38517468G>T | CA405692061 | RYR1 | c.9734G>T (n.9734G>T) c.9795G>T (p.Glu3265Asp) c.9792G>T (p.Glu3264Asp) c.3197G>T c.602G>T | |
19 | g.38517469A= | CA2335062042 | RYR1 | c.9735A= (n.9735A=) c.9796A= (p.Met3266=) c.9793A= (p.Met3265=) c.3198A= c.603A= | |
19 | g.38517469A>C | CA074157 | RYR1 | c.9735A>C (n.9735A>C) c.9796A>C (p.Met3266Leu) c.9793A>C (p.Met3265Leu) c.3198A>C c.603A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517469A>G | CA405692062 | RYR1 | c.9735A>G (n.9735A>G) c.9796A>G (p.Met3266Val) c.9793A>G (p.Met3265Val) c.3198A>G c.603A>G | |
19 | g.38517469A>T | CA405692064 | RYR1 | c.9735A>T (n.9735A>T) c.9796A>T (p.Met3266Leu) c.9793A>T (p.Met3265Leu) c.3198A>T c.603A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517470T>A | CA405692066 | RYR1 | c.9736T>A (n.9736T>A) c.9797T>A (p.Met3266Lys) c.9794T>A (p.Met3265Lys) c.3199T>A c.604T>A | |
19 | g.38517470T>C | CA405692068 | RYR1 | c.9736T>C (n.9736T>C) c.9797T>C (p.Met3266Thr) c.9794T>C (p.Met3265Thr) c.3199T>C c.604T>C | ClinVar dbSNP gnomAD v4 |
19 | g.38517470T>G | CA405692069 | RYR1 | c.9736T>G (n.9736T>G) c.9797T>G (p.Met3266Arg) c.9794T>G (p.Met3265Arg) c.3199T>G c.604T>G | |
19 | g.38517471G>A | CA074161 | RYR1 | c.9737G>A (n.9737G>A) c.9798G>A (p.Met3266Ile) c.9795G>A (p.Met3265Ile) c.3200G>A c.605G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517471G>C | CA405692070 | RYR1 | c.9737G>C (n.9737G>C) c.9798G>C (p.Met3266Ile) c.9795G>C (p.Met3265Ile) c.3200G>C c.605G>C | |
19 | g.38517471G= | CA2335062043 | RYR1 | c.9737G= (n.9737G=) c.9798G= (p.Met3266=) c.9795G= (p.Met3265=) c.3200G= c.605G= | |
19 | g.38517471G>T | CA405692072 | RYR1 | c.9737G>T (n.9737G>T) c.9798G>T (p.Met3266Ile) c.9795G>T (p.Met3265Ile) c.3200G>T c.605G>T | |
19 | g.38517472C>A | CA405692075 | RYR1 | c.9738C>A (n.9738C>A) c.9799C>A (p.Pro3267Thr) c.9796C>A (p.Pro3266Thr) c.3201C>A c.606C>A | |
19 | g.38517472C>G | CA405692077 | RYR1 | c.9738C>G (n.9738C>G) c.9799C>G (p.Pro3267Ala) c.9796C>G (p.Pro3266Ala) c.3201C>G c.606C>G | |
19 | g.38517472C>T | CA405692079 | RYR1 | c.9738C>T (n.9738C>T) c.9799C>T (p.Pro3267Ser) c.9796C>T (p.Pro3266Ser) c.3201C>T c.606C>T | |
19 | g.38517473C>A | CA405692080 | RYR1 | c.9739C>A (n.9739C>A) c.9800C>A (p.Pro3267Gln) c.9797C>A (p.Pro3266Gln) c.3202C>A c.607C>A | |
19 | g.38517473C= | CA2335062044 | RYR1 | c.9739C= (n.9739C=) c.9800C= (p.Pro3267=) c.9797C= (p.Pro3266=) c.3202C= c.607C= | |
19 | g.38517473C>G | CA405692082 | RYR1 | c.9739C>G (n.9739C>G) c.9800C>G (p.Pro3267Arg) c.9797C>G (p.Pro3266Arg) c.3202C>G c.607C>G | |
19 | g.38517473C>T | CA074165 | RYR1 | c.9739C>T (n.9739C>T) c.9800C>T (p.Pro3267Leu) c.9797C>T (p.Pro3266Leu) c.3202C>T c.607C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517474G>A | CA074167 | RYR1 | c.9740G>A (n.9740G>A) c.9801G>A (p.Pro3267=) c.9798G>A (p.Pro3266=) c.3203G>A c.608G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517474G>C | CA507247149 | RYR1 | c.9740G>C (n.9740G>C) c.9801G>C (p.Pro3267=) c.9798G>C (p.Pro3266=) c.3203G>C c.608G>C | |
19 | g.38517474G= | CA2335062045 | RYR1 | c.9740G= (n.9740G=) c.9801G= (p.Pro3267=) c.9798G= (p.Pro3266=) c.3203G= c.608G= | |
19 | g.38517474G>T | CA507247150 | RYR1 | c.9740G>T (n.9740G>T) c.9801G>T (p.Pro3267=) c.9798G>T (p.Pro3266=) c.3203G>T c.608G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517475C>A | CA405692083 | RYR1 | c.9741C>A (n.9741C>A) c.9802C>A (p.His3268Asn) c.9799C>A (p.His3267Asn) c.3204C>A c.609C>A | |
19 | g.38517475C>G | CA405692084 | RYR1 | c.9741C>G (n.9741C>G) c.9802C>G (p.His3268Asp) c.9799C>G (p.His3267Asp) c.3204C>G c.609C>G | |
19 | g.38517475C>T | CA405692087 | RYR1 | c.9741C>T (n.9741C>T) c.9802C>T (p.His3268Tyr) c.9799C>T (p.His3267Tyr) c.3204C>T c.609C>T | |
19 | g.38517476A= | CA2335062046 | RYR1 | c.9742A= (n.9742A=) c.9803A= (p.His3268=) c.9800A= (p.His3267=) c.3205A= c.610A= | |
19 | g.38517476A>C | CA405692088 | RYR1 | c.9742A>C (n.9742A>C) c.9803A>C (p.His3268Pro) c.9800A>C (p.His3267Pro) c.3205A>C c.610A>C | |
19 | g.38517476A>G | CA074170 | RYR1 | c.9742A>G (n.9742A>G) c.9803A>G (p.His3268Arg) c.9800A>G (p.His3267Arg) c.3205A>G c.610A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38517476A>T | CA405692089 | RYR1 | c.9742A>T (n.9742A>T) c.9803A>T (p.His3268Leu) c.9800A>T (p.His3267Leu) c.3205A>T c.610A>T | |
19 | g.38517477T>A | CA405692091 | RYR1 | c.9743T>A (n.9743T>A) c.9804T>A (p.His3268Gln) c.9801T>A (p.His3267Gln) c.3206T>A c.611T>A | |
19 | g.38517477T>C | CA308129777 | RYR1 | c.9743T>C (n.9743T>C) c.9804T>C (p.His3268=) c.9801T>C (p.His3267=) c.3206T>C c.611T>C | dbSNP |
19 | g.38517477T>G | CA405692092 | RYR1 | c.9743T>G (n.9743T>G) c.9804T>G (p.His3268Gln) c.9801T>G (p.His3267Gln) c.3206T>G c.611T>G | |
19 | g.38517477T= | CA2335062047 | RYR1 | c.9743T= (n.9743T=) c.9804T= (p.His3268=) c.9801T= (p.His3267=) c.3206T= c.611T= | |
19 | g.38517478G>A | CA405692093 | RYR1 | c.9744G>A (n.9744G>A) c.9805G>A (p.Val3269Ile) c.9802G>A (p.Val3268Ile) c.3207G>A c.612G>A | |
19 | g.38517478G>C | CA405692095 | RYR1 | c.9744G>C (n.9744G>C) c.9805G>C (p.Val3269Leu) c.9802G>C (p.Val3268Leu) c.3207G>C c.612G>C | gnomAD v4 |
19 | g.38517478G>T | CA405692096 | RYR1 | c.9744G>T (n.9744G>T) c.9805G>T (p.Val3269Phe) c.9802G>T (p.Val3268Phe) c.3207G>T c.612G>T | |
19 | g.38517479T>A | CA405692097 | RYR1 | c.9745T>A (n.9745T>A) c.9806T>A (p.Val3269Asp) c.9803T>A (p.Val3268Asp) c.3208T>A c.613T>A | |
19 | g.38517479T>C | CA405692098 | RYR1 | c.9745T>C (n.9745T>C) c.9806T>C (p.Val3269Ala) c.9803T>C (p.Val3268Ala) c.3208T>C c.613T>C | |
19 | g.38517479T>G | CA405692100 | RYR1 | c.9745T>G (n.9745T>G) c.9806T>G (p.Val3269Gly) c.9803T>G (p.Val3268Gly) c.3208T>G c.613T>G | |
19 | g.38517480C>A | CA507247151 | RYR1 | c.9746C>A (n.9746C>A) c.9807C>A (p.Val3269=) c.9804C>A (p.Val3268=) c.3209C>A c.614C>A | |
19 | g.38517480C>G | CA507247152 | RYR1 | c.9746C>G (n.9746C>G) c.9807C>G (p.Val3269=) c.9804C>G (p.Val3268=) c.3209C>G c.614C>G | |
19 | g.38517480C>T | CA507247153 | RYR1 | c.9746C>T (n.9746C>T) c.9807C>T (p.Val3269=) c.9804C>T (p.Val3268=) c.3209C>T c.614C>T | gnomAD v4 |
19 | g.38517481A= | CA2335062048 | RYR1 | c.9747A= (n.9747A=) c.9808A= (p.Ile3270=) c.9805A= (p.Ile3269=) c.3210A= c.615A= | |
19 | g.38517481A>C | CA405692105 | RYR1 | c.9747A>C (n.9747A>C) c.9808A>C (p.Ile3270Leu) c.9805A>C (p.Ile3269Leu) c.3210A>C c.615A>C | |
19 | g.38517481A>G | CA405692102 | RYR1 | c.9747A>G (n.9747A>G) c.9808A>G (p.Ile3270Val) c.9805A>G (p.Ile3269Val) c.3210A>G c.615A>G | gnomAD v4 |
19 | g.38517481A>T | CA074173 | RYR1 | c.9747A>T (n.9747A>T) c.9808A>T (p.Ile3270Phe) c.9805A>T (p.Ile3269Phe) c.3210A>T c.615A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38517482T>A | CA405692108 | RYR1 | c.9748T>A (n.9748T>A) c.9809T>A (p.Ile3270Asn) c.9806T>A (p.Ile3269Asn) c.3211T>A c.616T>A | |
19 | g.38517482T>C | CA405692112 | RYR1 | c.9748T>C (n.9748T>C) c.9809T>C (p.Ile3270Thr) c.9806T>C (p.Ile3269Thr) c.3211T>C c.616T>C | |
19 | g.38517482T>G | CA405692113 | RYR1 | c.9748T>G (n.9748T>G) c.9809T>G (p.Ile3270Ser) c.9806T>G (p.Ile3269Ser) c.3211T>G c.616T>G | |
19 | g.38517483C>A | CA507247157 | RYR1 | c.9749C>A (n.9749C>A) c.9810C>A (p.Ile3270=) c.9807C>A (p.Ile3269=) c.3212C>A c.617C>A | |
19 | g.38517483C= | CA2335062049 | RYR1 | c.9749C= (n.9749C=) c.9810C= (p.Ile3270=) c.9807C= (p.Ile3269=) c.3212C= c.617C= | |
19 | g.38517483C>G | CA405692115 | RYR1 | c.9749C>G (n.9749C>G) c.9810C>G (p.Ile3270Met) c.9807C>G (p.Ile3269Met) c.3212C>G c.617C>G | |
19 | g.38517483C>T | CA074178 | RYR1 | c.9749C>T (n.9749C>T) c.9810C>T (p.Ile3270=) c.9807C>T (p.Ile3269=) c.3212C>T c.617C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517484G>A | CA074183 | RYR1 | c.9750G>A (n.9750G>A) c.9811G>A (p.Glu3271Lys) c.9808G>A (p.Glu3270Lys) c.3213G>A c.618G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38517484G>C | CA405692124 | RYR1 | c.9750G>C (n.9750G>C) c.9811G>C (p.Glu3271Gln) c.9808G>C (p.Glu3270Gln) c.3213G>C c.618G>C | ClinVar |
19 | g.38517484G= | CA2335062050 | RYR1 | c.9750G= (n.9750G=) c.9811G= (p.Glu3271=) c.9808G= (p.Glu3270=) c.3213G= c.618G= | |
19 | g.38517484G>T | CA405692120 | RYR1 | c.9750G>T (n.9750G>T) c.9811G>T (p.Glu3271Ter) c.9808G>T (p.Glu3270Ter) c.3213G>T c.618G>T | |
19 | g.38517485A>C | CA405692132 | RYR1 | c.9751A>C (n.9751A>C) c.9812A>C (p.Glu3271Ala) c.9809A>C (p.Glu3270Ala) c.3214A>C c.619A>C | |
19 | g.38517485A>G | CA405692135 | RYR1 | c.9751A>G (n.9751A>G) c.9812A>G (p.Glu3271Gly) c.9809A>G (p.Glu3270Gly) c.3214A>G c.619A>G | |
19 | g.38517485A>T | CA405692137 | RYR1 | c.9751A>T (n.9751A>T) c.9812A>T (p.Glu3271Val) c.9809A>T (p.Glu3270Val) c.3214A>T c.619A>T | |
19 | g.38517486G>A | CA507247159 | RYR1 | c.9752G>A (n.9752G>A) c.9813G>A (p.Glu3271=) c.9810G>A (p.Glu3270=) c.3215G>A c.620G>A | |
19 | g.38517486G>C | CA405692139 | RYR1 | c.9752G>C (n.9752G>C) c.9813G>C (p.Glu3271Asp) c.9810G>C (p.Glu3270Asp) c.3215G>C c.620G>C | |
19 | g.38517486G>T | CA405692143 | RYR1 | c.9752G>T (n.9752G>T) c.9813G>T (p.Glu3271Asp) c.9810G>T (p.Glu3270Asp) c.3215G>T c.620G>T | |
19 | g.38517487A>C | CA405692144 | RYR1 | c.9753A>C (n.9753A>C) c.9814A>C (p.Ile3272Leu) c.9811A>C (p.Ile3271Leu) c.3216A>C c.621A>C | |
19 | g.38517487A>G | CA405692145 | RYR1 | c.9753A>G (n.9753A>G) c.9814A>G (p.Ile3272Val) c.9811A>G (p.Ile3271Val) c.3216A>G c.621A>G | |
19 | g.38517487A>T | CA405692146 | RYR1 | c.9753A>T (n.9753A>T) c.9814A>T (p.Ile3272Phe) c.9811A>T (p.Ile3271Phe) c.3216A>T c.621A>T |