| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104858586C>G | CA374311396 | ABCA1 | c.656G>C (p.Arg219Thr) c.476G>C (p.Arg159Thr) c.731G>C (p.Arg244Thr) c.293G>C (p.Arg98Thr) c.593G>C (p.Arg198Thr) n.1044G>C | dbSNP |
| 9 | g.104858586C>T | CA120495 | ABCA1 | c.656G>A (p.Arg219Lys) c.476G>A (p.Arg159Lys) c.731G>A (p.Arg244Lys) c.293G>A (p.Arg98Lys) c.593G>A (p.Arg198Lys) n.1044G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |