| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104826974C>G | CA5168768 | ABCA1 | c.2311G>C (p.Val771Leu) n.484G>C c.2131G>C (p.Val711Leu) c.2386G>C (p.Val796Leu) c.1948G>C (p.Val650Leu) c.2248G>C (p.Val750Leu) n.2699G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104826974C>T | CA5168767 | ABCA1 | c.2311G>A (p.Val771Met) n.484G>A c.2131G>A (p.Val711Met) c.2386G>A (p.Val796Met) c.1948G>A (p.Val650Met) c.2248G>A (p.Val750Met) n.2699G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |