| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214986563C>T | CA252474 | ABCA12 | c.4142G>A (p.Gly1381Glu) c.3188G>A (p.Gly1063Glu) n.4442G>A c.4151G>A (p.Gly1384Glu) n.4640G>A | ClinVar dbSNP |
| 2 | g.214986563C= | CA1327163653 | ABCA12 | c.4142G= (p.Gly1381=) c.3188G= (p.Gly1063=) n.4442G= c.4151G= (p.Gly1384=) n.4640G= | dbSNP |