| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38519237C>T | CA079715 | RYR1 | c.9981C>T (n.9981C>T) c.10042C>T (p.Arg3348Cys) c.10039C>T (p.Arg3347Cys) c.3444C>T c.849C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38519237C>G | CA308131130 | RYR1 | c.9981C>G (n.9981C>G) c.10042C>G (p.Arg3348Gly) c.10039C>G (p.Arg3347Gly) c.3444C>G c.849C>G | dbSNP |