| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 | 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 |