| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38527777T>C | CA023862 | RYR1 | c.10756T>C (n.10756T>C) c.10817T>C (p.Leu3606Pro) c.10802T>C (p.Leu3601Pro) c.10799T>C (p.Leu3600Pro) c.4204T>C c.1624T>C c.10814T>C (p.Leu3605Pro) n.236-2A>G | ClinVar dbSNP |
| 19 | g.38527777T= | CA2335066989 | RYR1 | c.10756T= (n.10756T=) c.10817T= (p.Leu3606=) c.10802T= (p.Leu3601=) c.10799T= (p.Leu3600=) c.4204T= c.1624T= c.10814T= (p.Leu3605=) n.236-2A= | dbSNP |