| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237590872T>C | CA345397611 | RYR2 | c.4040T>C (p.Met1347Thr) c.3992T>C (p.Met1331Thr) c.4037T>C (p.Met1346Thr) n.4321T>C c.4019T>C (p.Met1340Thr) n.4354T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237590872T>G | CA009434 | RYR2 | c.4040T>G (p.Met1347Arg) c.3992T>G (p.Met1331Arg) c.4037T>G (p.Met1346Arg) n.4321T>G c.4019T>G (p.Met1340Arg) n.4354T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237590872T= | CA1143355732 | RYR2 | c.4040T= (p.Met1347=) c.3992T= (p.Met1331=) c.4037T= (p.Met1346=) n.4321T= c.4019T= (p.Met1340=) n.4354T= | dbSNP |