| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580057C>T | CA024141 | RYR1 | c.1376C>T c.2773C>T c.2745C>T c.14440C>T (p.Leu4814Phe) c.14425C>T (p.Leu4809Phe) c.14422C>T (p.Leu4808Phe) c.14407C>T (p.Leu4803Phe) c.14437C>T (p.Leu4813Phe) c.14353C>T (p.Leu4785Phe) | ClinVar dbSNP |
| 19 | g.38580057C= | CA2335092281 | RYR1 | c.1376C= c.2773C= c.2745C= c.14440C= (p.Leu4814=) c.14425C= (p.Leu4809=) c.14422C= (p.Leu4808=) c.14407C= (p.Leu4803=) c.14437C= (p.Leu4813=) c.14353C= (p.Leu4785=) | dbSNP |