| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38500655G>T | CA405670033 | RYR1 | c.7373G>T (p.Arg2458Leu) c.7370G>T (p.Arg2457Leu) c.825G>T n.7456G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38500655G>A | CA024787 | RYR1 | c.7373G>A (p.Arg2458His) c.7370G>A (p.Arg2457His) c.825G>A n.7456G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |