| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237377365G>T | CA16042319 | RYR2 | c.506G>T (p.Arg169Leu) c.458G>T (p.Arg153Leu) n.787G>T c.485G>T (p.Arg162Leu) n.820G>T | ClinVar dbSNP |
| 1 | g.237377365G>A | CA009771 | RYR2 | c.506G>A (p.Arg169Gln) c.458G>A (p.Arg153Gln) n.787G>A c.485G>A (p.Arg162Gln) n.820G>A | ClinVar dbSNP COSMIC COSMIC |