| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38572184G>A | CA024082 | RYR1 | c.848G>A c.2245G>A c.2217G>A c.13912G>A (p.Gly4638Ser) c.13897G>A (p.Gly4633Ser) c.13894G>A (p.Gly4632Ser) c.372G>A c.13879G>A (p.Gly4627Ser) c.13909G>A (p.Gly4637Ser) c.13825G>A (p.Gly4609Ser) | ClinVar dbSNP |
| 19 | g.38572184G= | CA2335088433 | RYR1 | c.848G= c.2245G= c.2217G= c.13912G= (p.Gly4638=) c.13897G= (p.Gly4633=) c.13894G= (p.Gly4632=) c.372G= c.13879G= (p.Gly4627=) c.13909G= (p.Gly4637=) c.13825G= (p.Gly4609=) | dbSNP |