| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38572182C>T | CA024080 | RYR1 | c.846C>T c.2243C>T c.2215C>T c.13910C>T (p.Thr4637Ile) c.13895C>T (p.Thr4632Ile) c.13892C>T (p.Thr4631Ile) c.370C>T c.13877C>T (p.Thr4626Ile) c.13907C>T (p.Thr4636Ile) c.13823C>T (p.Thr4608Ile) | ClinVar dbSNP |
| 19 | g.38572182C= | CA2335088432 | RYR1 | c.846C= c.2243C= c.2215C= c.13910C= (p.Thr4637=) c.13895C= (p.Thr4632=) c.13892C= (p.Thr4631=) c.370C= c.13877C= (p.Thr4626=) c.13907C= (p.Thr4636=) c.13823C= (p.Thr4608=) | dbSNP |