| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104824472T>C | CA5168681 | ABCA1 | c.2649A>G (p.Ile883Met) c.2469A>G (p.Ile823Met) c.2724A>G (p.Ile908Met) c.2286A>G (p.Ile762Met) c.2586A>G (p.Ile862Met) n.3037A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104824472T= | CA1869956698 | ABCA1 | c.2649A= (p.Ile883=) c.2469A= (p.Ile823=) c.2724A= (p.Ile908=) c.2286A= (p.Ile762=) c.2586A= (p.Ile862=) n.3037A= | dbSNP |