| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104798504G>A | CA120488 | ABCA1 | c.5038C>T (p.Arg1680Trp) c.5044C>T (p.Arg1682Trp) c.4864C>T (p.Arg1622Trp) c.5119C>T (p.Arg1707Trp) c.5113C>T (p.Arg1705Trp) c.4681C>T (p.Arg1561Trp) c.4981C>T (p.Arg1661Trp) n.5432C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104798504G>T | CA5167955 | ABCA1 | c.5038C>A (p.Arg1680=) c.5044C>A (p.Arg1682=) c.4864C>A (p.Arg1622=) c.5119C>A (p.Arg1707=) c.5113C>A (p.Arg1705=) c.4681C>A (p.Arg1561=) c.4981C>A (p.Arg1661=) n.5432C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |