| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237186438T>A | CA733272762 | RYR2 | c.49-84059T>A (n.49-84059T>A) n.330-84059T>A n.363-84059T>A | dbSNP |
| 1 | g.237186438T>C | CA10976540 | RYR2 | c.49-84059T>C (n.49-84059T>C) n.330-84059T>C n.363-84059T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |