| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104830993del | CA120481 | ABCA1 | c.1824del (p.Thr609ArgfsTer27) c.1644del (p.Thr549ArgfsTer27) c.1899del (p.Thr634ArgfsTer27) c.1461del (p.Thr488ArgfsTer27) c.1761del (p.Thr588ArgfsTer27) n.2212del | ClinVar dbSNP |
| 9 | g.104830993C= | CA3165433029 | ABCA1 | c.1824G= (p.Leu608=) c.1644G= (p.Leu548=) c.1899G= (p.Leu633=) c.1461G= (p.Leu487=) c.1761G= (p.Leu587=) n.2212G= | dbSNP dbSNP |