| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104825752C>T | CA5168723 | ABCA1 | c.2473G>A (p.Val825Ile) n.646G>A c.2293G>A (p.Val765Ile) c.2548G>A (p.Val850Ile) c.2110G>A (p.Val704Ile) c.2410G>A (p.Val804Ile) n.2861G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.104825752C= | CA1869915036 | ABCA1 | c.2473G= (p.Val825=) n.646G= c.2293G= (p.Val765=) c.2548G= (p.Val850=) c.2110G= (p.Val704=) c.2410G= (p.Val804=) n.2861G= | dbSNP |