| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104788469A>G | CA120490 | ABCA1 | c.6026T>C (p.Phe2009Ser) c.6032T>C (p.Phe2011Ser) c.5852T>C (p.Phe1951Ser) c.6107T>C (p.Phe2036Ser) c.6101T>C (p.Phe2034Ser) c.5669T>C (p.Phe1890Ser) c.5969T>C (p.Phe1990Ser) n.6420T>C | ClinVar dbSNP |
| 9 | g.104788469A>T | CA374307793 | ABCA1 | c.6026T>A (p.Phe2009Tyr) c.6032T>A (p.Phe2011Tyr) c.5852T>A (p.Phe1951Tyr) c.6107T>A (p.Phe2036Tyr) c.6101T>A (p.Phe2034Tyr) c.5669T>A (p.Phe1890Tyr) c.5969T>A (p.Phe1990Tyr) n.6420T>A | dbSNP gnomAD v4 |
| 9 | g.104788469A= | CA1869913857 | ABCA1 | c.6026T= (p.Phe2009=) c.6032T= (p.Phe2011=) c.5852T= (p.Phe1951=) c.6107T= (p.Phe2036=) c.6101T= (p.Phe2034=) c.5669T= (p.Phe1890=) c.5969T= (p.Phe1990=) n.6420T= | dbSNP |