| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104804668G>A | CA120486 | ABCA1 | c.4517C>T (p.Ser1506Leu) c.4523C>T (p.Ser1508Leu) c.4343C>T (p.Ser1448Leu) c.4598C>T (p.Ser1533Leu) c.4592C>T (p.Ser1531Leu) c.4160C>T (p.Ser1387Leu) c.4629C>T (p.Phe1543=) c.4460C>T (p.Ser1487Leu) n.4911C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104804668G= | CA1869926694 | ABCA1 | c.4517C= (p.Ser1506=) c.4523C= (p.Ser1508=) c.4343C= (p.Ser1448=) c.4598C= (p.Ser1533=) c.4592C= (p.Ser1531=) c.4160C= (p.Ser1387=) c.4629C= (p.Phe1543=) c.4460C= (p.Ser1487=) n.4911C= | dbSNP |