| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237369589G>T | CA345655022 | RYR2 | c.365G>T (p.Arg122Leu) c.317G>T (p.Arg106Leu) n.646G>T c.344G>T (p.Arg115Leu) n.679G>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.237369589G>A | CA009317 | RYR2 | c.365G>A (p.Arg122His) c.317G>A (p.Arg106His) n.646G>A c.344G>A (p.Arg115His) n.679G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237369589G= | CA1148225037 | RYR2 | c.365G= (p.Arg122=) c.317G= (p.Arg106=) n.646G= c.344G= (p.Arg115=) n.679G= | dbSNP |