| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38500642C>T | CA024778 | RYR1 | c.7360C>T (p.Arg2454Cys) c.7357C>T (p.Arg2453Cys) c.812C>T n.7443C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38500642C>A | CA405669978 | RYR1 | c.7360C>A (p.Arg2454Ser) c.7357C>A (p.Arg2453Ser) c.812C>A n.7443C>A | ClinVar dbSNP |
| 19 | g.38500642C= | CA2335053354 | RYR1 | c.7360C= (p.Arg2454=) c.7357C= (p.Arg2453=) c.812C= n.7443C= | dbSNP |