| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.11824987G>A | CA130672 | GNAL | c.694G>A (p.Glu232Lys) c.463G>A (p.Glu155Lys) c.280G>A (p.Glu94Lys) c.175G>A (p.Glu59Lys) n.287G>A | ClinVar dbSNP |
| 18 | g.11824987G= | CA2284957083 | GNAL | c.694G= (p.Glu232=) c.463G= (p.Glu155=) c.280G= (p.Glu94=) c.175G= (p.Glu59=) n.287G= | dbSNP |
| 18 | g.11824987G>T | CA401928050 | GNAL | c.694G>T (p.Glu232Ter) c.463G>T (p.Glu155Ter) c.280G>T (p.Glu94Ter) c.175G>T (p.Glu59Ter) n.287G>T | dbSNP gnomAD v4 |