| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214980608C>T | CA252478 | ABCA12 | c.4615G>A (p.Glu1539Lys) c.3661G>A (p.Glu1221Lys) n.4915G>A c.4624G>A (p.Glu1542Lys) n.5113G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.214980608C= | CA1327161020 | ABCA12 | c.4615G= (p.Glu1539=) c.3661G= (p.Glu1221=) n.4915G= c.4624G= (p.Glu1542=) n.5113G= | dbSNP |