| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38448673C>T | CA025007 | RYR1 | c.982C>T (p.Arg328Trp) c.979C>T (p.Arg327Trp) n.1065C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38448673C>A | CA507352581 | RYR1 | c.982C>A (p.Arg328=) c.979C>A (p.Arg327=) n.1065C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |