| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38572221T>C | CA024091 | RYR1 | c.885T>C c.2282T>C c.2254T>C c.13949T>C (p.Leu4650Pro) c.13934T>C (p.Leu4645Pro) c.13931T>C (p.Leu4644Pro) c.409T>C c.13916T>C (p.Leu4639Pro) c.13946T>C (p.Leu4649Pro) c.13862T>C (p.Leu4621Pro) | ClinVar dbSNP |
| 19 | g.38572221T= | CA2335088452 | RYR1 | c.885T= c.2282T= c.2254T= c.13949T= (p.Leu4650=) c.13934T= (p.Leu4645=) c.13931T= (p.Leu4644=) c.409T= c.13916T= (p.Leu4639=) c.13946T= (p.Leu4649=) c.13862T= (p.Leu4621=) | dbSNP |