| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38499906A>C | CA405669000 | RYR1 | c.7215-2A>C (n.7215-2A>C) c.7212-2A>C (n.7212-2A>C) c.667-2A>C n.7298-2A>C | |
| 19 | g.38499906A>G | CA405669003 | RYR1 | c.7215-2A>G (n.7215-2A>G) c.7212-2A>G (n.7212-2A>G) c.667-2A>G n.7298-2A>G | |
| 19 | g.38499906A>T | CA405669004 | RYR1 | c.7215-2A>T (n.7215-2A>T) c.7212-2A>T (n.7212-2A>T) c.667-2A>T n.7298-2A>T | |
| 19 | g.38499907G>A | CA405669006 | RYR1 | c.7215-1G>A (n.7215-1G>A) c.7212-1G>A (n.7212-1G>A) c.667-1G>A n.7298-1G>A | |
| 19 | g.38499907G>C | CA405669008 | RYR1 | c.7215-1G>C (n.7215-1G>C) c.7212-1G>C (n.7212-1G>C) c.667-1G>C n.7298-1G>C | |
| 19 | g.38499907G>T | CA405669012 | RYR1 | c.7215-1G>T (n.7215-1G>T) c.7212-1G>T (n.7212-1G>T) c.667-1G>T n.7298-1G>T | ClinVar |
| 19 | g.38499907_38499908del | CA913015952 | RYR1 | c.7215-1_7215del c.7212-1_7212del c.667-1_667del n.7298-1_7298del | |
| 19 | g.38499907_38499908delinsGC | CA2335053007 | RYR1 | c.7215-1_7215delinsGC c.7212-1_7212delinsGC c.667-1_667delinsGC n.7298-1_7298delinsGC | |
| 19 | g.38499908del | CA658824676 | RYR1 | c.7215del (p.Phe2406LeufsTer24) c.7212del (p.Phe2405LeufsTer24) c.667del n.7298del | ClinVar dbSNP |
| 19 | g.38499908C>A | CA405669016 | RYR1 | c.7215C>A (p.His2405Gln) c.7212C>A (p.His2404Gln) c.667C>A n.7298C>A | |
| 19 | g.38499908C>G | CA405669018 | RYR1 | c.7215C>G (p.His2405Gln) c.7212C>G (p.His2404Gln) c.667C>G n.7298C>G | |
| 19 | g.38499908C>T | CA507353692 | RYR1 | c.7215C>T (p.His2405=) c.7212C>T (p.His2404=) c.667C>T n.7298C>T | |
| 19 | g.38499909T>A | CA405669030 | RYR1 | c.7216T>A (p.Phe2406Ile) c.7213T>A (p.Phe2405Ile) c.668T>A n.7299T>A | |
| 19 | g.38499909T>C | CA405669025 | RYR1 | c.7216T>C (p.Phe2406Leu) c.7213T>C (p.Phe2405Leu) c.668T>C n.7299T>C | |
| 19 | g.38499909T>G | CA405669022 | RYR1 | c.7216T>G (p.Phe2406Val) c.7213T>G (p.Phe2405Val) c.668T>G n.7299T>G | |
| 19 | g.38499911dup | CA645612039 | RYR1 | c.7218dup (p.Gly2407TrpfsTer2) c.7215dup (p.Gly2406TrpfsTer2) c.670dup n.7301dup | COSMIC |
| 19 | g.38499910T>A | CA405669032 | RYR1 | c.7217T>A (p.Phe2406Tyr) c.7214T>A (p.Phe2405Tyr) c.669T>A n.7300T>A | |
| 19 | g.38499910T>C | CA405669036 | RYR1 | c.7217T>C (p.Phe2406Ser) c.7214T>C (p.Phe2405Ser) c.669T>C n.7300T>C | |
| 19 | g.38499910T>G | CA405669037 | RYR1 | c.7217T>G (p.Phe2406Cys) c.7214T>G (p.Phe2405Cys) c.669T>G n.7300T>G | |
| 19 | g.38499911T>A | CA405669040 | RYR1 | c.7218T>A (p.Phe2406Leu) c.7215T>A (p.Phe2405Leu) c.670T>A n.7301T>A | |
| 19 | g.38499911T>C | CA507353694 | RYR1 | c.7218T>C (p.Phe2406=) c.7215T>C (p.Phe2405=) c.670T>C n.7301T>C | ClinVar |
| 19 | g.38499911T>G | CA405669042 | RYR1 | c.7218T>G (p.Phe2406Leu) c.7215T>G (p.Phe2405Leu) c.670T>G n.7301T>G | |
| 19 | g.38499912G>A | CA405669055 | RYR1 | c.7219G>A (p.Gly2407Ser) c.7216G>A (p.Gly2406Ser) c.671G>A n.7302G>A | |
| 19 | g.38499912G>C | CA405669053 | RYR1 | c.7219G>C (p.Gly2407Arg) c.7216G>C (p.Gly2406Arg) c.671G>C n.7302G>C | |
| 19 | g.38499912G>T | CA405669047 | RYR1 | c.7219G>T (p.Gly2407Cys) c.7216G>T (p.Gly2406Cys) c.671G>T n.7302G>T | |
| 19 | g.38499913G>A | CA069314 | RYR1 | c.7220G>A (p.Gly2407Asp) c.7217G>A (p.Gly2406Asp) c.672G>A n.7303G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38499913G>C | CA405669058 | RYR1 | c.7220G>C (p.Gly2407Ala) c.7217G>C (p.Gly2406Ala) c.672G>C n.7303G>C | |
| 19 | g.38499913G= | CA2335053008 | RYR1 | c.7220G= (p.Gly2407=) c.7217G= (p.Gly2406=) c.672G= n.7303G= | |
| 19 | g.38499913G>T | CA405669059 | RYR1 | c.7220G>T (p.Gly2407Val) c.7217G>T (p.Gly2406Val) c.672G>T n.7303G>T | |
| 19 | g.38499914T>A | CA507353697 | RYR1 | c.7221T>A (p.Gly2407=) c.7218T>A (p.Gly2406=) c.673T>A n.7304T>A | |
| 19 | g.38499914T>C | CA507353698 | RYR1 | c.7221T>C (p.Gly2407=) c.7218T>C (p.Gly2406=) c.673T>C n.7304T>C | COSMIC |
| 19 | g.38499914T>G | CA507353699 | RYR1 | c.7221T>G (p.Gly2407=) c.7218T>G (p.Gly2406=) c.673T>G n.7304T>G | gnomAD v3 gnomAD v4 |
| 19 | g.38499915G>A | CA405669061 | RYR1 | c.7222G>A (p.Glu2408Lys) c.7219G>A (p.Glu2407Lys) c.674G>A n.7305G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38499915G>C | CA405669063 | RYR1 | c.7222G>C (p.Glu2408Gln) c.7219G>C (p.Glu2407Gln) c.674G>C n.7305G>C | |
| 19 | g.38499915G= | CA2335053009 | RYR1 | c.7222G= (p.Glu2408=) c.7219G= (p.Glu2407=) c.674G= n.7305G= | |
| 19 | g.38499915G>T | CA405669065 | RYR1 | c.7222G>T (p.Glu2408Ter) c.7219G>T (p.Glu2407Ter) c.674G>T n.7305G>T | |
| 19 | g.38499916A>C | CA405669070 | RYR1 | c.7223A>C (p.Glu2408Ala) c.7220A>C (p.Glu2407Ala) c.675A>C n.7306A>C | |
| 19 | g.38499916A>G | CA405669073 | RYR1 | c.7223A>G (p.Glu2408Gly) c.7220A>G (p.Glu2407Gly) c.675A>G n.7306A>G | |
| 19 | g.38499916A>T | CA405669071 | RYR1 | c.7223A>T (p.Glu2408Val) c.7220A>T (p.Glu2407Val) c.675A>T n.7306A>T | |
| 19 | g.38499917G>A | CA507353700 | RYR1 | c.7224G>A (p.Glu2408=) c.7221G>A (p.Glu2407=) c.676G>A n.7307G>A | |
| 19 | g.38499917G>C | CA405669076 | RYR1 | c.7224G>C (p.Glu2408Asp) c.7221G>C (p.Glu2407Asp) c.676G>C n.7307G>C | |
| 19 | g.38499917G>T | CA405669080 | RYR1 | c.7224G>T (p.Glu2408Asp) c.7221G>T (p.Glu2407Asp) c.676G>T n.7307G>T | |
| 19 | g.38499918G>A | CA405669083 | RYR1 | c.7225G>A (p.Glu2409Lys) c.7222G>A (p.Glu2408Lys) c.677G>A n.7308G>A | COSMIC |
| 19 | g.38499918G>C | CA405669084 | RYR1 | c.7225G>C (p.Glu2409Gln) c.7222G>C (p.Glu2408Gln) c.677G>C n.7308G>C | |
| 19 | g.38499918G>T | CA405669086 | RYR1 | c.7225G>T (p.Glu2409Ter) c.7222G>T (p.Glu2408Ter) c.677G>T n.7308G>T | |
| 19 | g.38499918_38499920dup | CA2584900089 | RYR1 | c.7225_7227dup (p.Glu2409_Pro2410insGlu) c.7222_7224dup (p.Glu2408_Pro2409insGlu) c.677_679dup n.7308_7310dup | gnomAD v4 |
| 19 | g.38499919A>C | CA405669091 | RYR1 | c.7226A>C (p.Glu2409Ala) c.7223A>C (p.Glu2408Ala) c.678A>C n.7309A>C | |
| 19 | g.38499919A>G | CA405669093 | RYR1 | c.7226A>G (p.Glu2409Gly) c.7223A>G (p.Glu2408Gly) c.678A>G n.7309A>G | |
| 19 | g.38499919A>T | CA405669094 | RYR1 | c.7226A>T (p.Glu2409Val) c.7223A>T (p.Glu2408Val) c.678A>T n.7309A>T | |
| 19 | g.38499920A>C | CA405669096 | RYR1 | c.7227A>C (p.Glu2409Asp) c.7224A>C (p.Glu2408Asp) c.679A>C n.7310A>C |