| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104806276A>G | CA120477 | ABCA1 | c.4429T>C (p.Cys1477Arg) c.4435T>C (p.Cys1479Arg) c.4255T>C (p.Cys1419Arg) c.4510T>C (p.Cys1504Arg) c.4504T>C (p.Cys1502Arg) c.4072T>C (p.Cys1358Arg) c.4372T>C (p.Cys1458Arg) n.4823T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104806276A>C | CA374315516 | ABCA1 | c.4429T>G (p.Cys1477Gly) c.4435T>G (p.Cys1479Gly) c.4255T>G (p.Cys1419Gly) c.4510T>G (p.Cys1504Gly) c.4504T>G (p.Cys1502Gly) c.4072T>G (p.Cys1358Gly) c.4372T>G (p.Cys1458Gly) n.4823T>G | dbSNP gnomAD v4 |
| 9 | g.104806276A= | CA1869929667 | ABCA1 | c.4429T= (p.Cys1477=) c.4435T= (p.Cys1479=) c.4255T= (p.Cys1419=) c.4510T= (p.Cys1504=) c.4504T= (p.Cys1502=) c.4072T= (p.Cys1358=) c.4372T= (p.Cys1458=) n.4823T= | dbSNP |