| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38565320C>A | CA024025 | RYR1 | c.1396C>A c.1378C>A c.12986C>A (p.Ala4329Asp) c.12971C>A (p.Ala4324Asp) c.12968C>A (p.Ala4323Asp) c.12953C>A (p.Ala4318Asp) c.12983C>A (p.Ala4328Asp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565320C= | CA2335084810 | RYR1 | c.1396C= c.1378C= c.12986C= (p.Ala4329=) c.12971C= (p.Ala4324=) c.12968C= (p.Ala4323=) c.12953C= (p.Ala4318=) c.12983C= (p.Ala4328=) | dbSNP |