| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38455359A>C | CA024286 | RYR1 | c.1565A>C (p.Tyr522Ser) c.1562A>C (p.Tyr521Ser) n.1648A>C | ClinVar dbSNP |
| 19 | g.38455359A>G | CA024287 | RYR1 | c.1565A>G (p.Tyr522Cys) c.1562A>G (p.Tyr521Cys) n.1648A>G | ClinVar dbSNP |
| 19 | g.38455359A= | CA2335031245 | RYR1 | c.1565A= (p.Tyr522=) c.1562A= (p.Tyr521=) n.1648A= | dbSNP |