| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104800523T>C | CA5168028 | ABCA1 | c.4760A>G (p.Lys1587Arg) c.4766A>G (p.Lys1589Arg) c.4586A>G (p.Lys1529Arg) c.4841A>G (p.Lys1614Arg) c.4835A>G (p.Lys1612Arg) c.4403A>G (p.Lys1468Arg) c.4703A>G (p.Lys1568Arg) n.5154A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.104800523T>A | CA374314732 | ABCA1 | c.4760A>T (p.Lys1587Ile) c.4766A>T (p.Lys1589Ile) c.4586A>T (p.Lys1529Ile) c.4841A>T (p.Lys1614Ile) c.4835A>T (p.Lys1612Ile) c.4403A>T (p.Lys1468Ile) c.4703A>T (p.Lys1568Ile) n.5154A>T | dbSNP gnomAD v4 |