| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237634937C>T | CA010282 | RYR2 | c.6737C>T (p.Ser2246Leu) c.6689C>T (p.Ser2230Leu) c.6767C>T (p.Ser2256Leu) c.6764C>T (p.Ser2255Leu) c.6734C>T (p.Ser2245Leu) n.7048C>T c.6746C>T (p.Ser2249Leu) n.7081C>T | ClinVar dbSNP |
| 1 | g.237634937C= | CA1141581461 | RYR2 | c.6737C= (p.Ser2246=) c.6689C= (p.Ser2230=) c.6767C= (p.Ser2256=) c.6764C= (p.Ser2255=) c.6734C= (p.Ser2245=) n.7048C= c.6746C= (p.Ser2249=) n.7081C= | dbSNP |