| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38572185G>A | CA024084 | RYR1 | c.849G>A c.2246G>A c.2218G>A c.13913G>A (p.Gly4638Asp) c.13898G>A (p.Gly4633Asp) c.13895G>A (p.Gly4632Asp) c.373G>A c.13880G>A (p.Gly4627Asp) c.13910G>A (p.Gly4637Asp) c.13826G>A (p.Gly4609Asp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38572185G= | CA2335088434 | RYR1 | c.849G= c.2246G= c.2218G= c.13913G= (p.Gly4638=) c.13898G= (p.Gly4633=) c.13895G= (p.Gly4632=) c.373G= c.13880G= (p.Gly4627=) c.13910G= (p.Gly4637=) c.13826G= (p.Gly4609=) | dbSNP |