| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38496901G>A | CA024651 | RYR1 | c.6838G>A (p.Val2280Ile) c.6835G>A (p.Val2279Ile) c.290G>A n.6921G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38496901G>T | CA405666532 | RYR1 | c.6838G>T (p.Val2280Phe) c.6835G>T (p.Val2279Phe) c.290G>T n.6921G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |