| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104831098G>T | CA120493 | ABCA1 | c.1719C>A (p.Tyr573Ter) c.1539C>A (p.Tyr513Ter) c.1794C>A (p.Tyr598Ter) c.1356C>A (p.Tyr452Ter) c.1656C>A (p.Tyr552Ter) n.2107C>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.104831098G= | CA1869924239 | ABCA1 | c.1719C= (p.Tyr573=) c.1539C= (p.Tyr513=) c.1794C= (p.Tyr598=) c.1356C= (p.Tyr452=) c.1656C= (p.Tyr552=) n.2107C= | dbSNP |