| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104822521T>C | CA16043668 | ABCA1 | c.2803A>G (p.Asn935Asp) c.2623A>G (p.Asn875Asp) c.2878A>G (p.Asn960Asp) c.2440A>G (p.Asn814Asp) c.2740A>G (p.Asn914Asp) n.3191A>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.104822521T>G | CA120487 | ABCA1 | c.2803A>C (p.Asn935His) c.2623A>C (p.Asn875His) c.2878A>C (p.Asn960His) c.2440A>C (p.Asn814His) c.2740A>C (p.Asn914His) n.3191A>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.104822521T= | CA1869953985 | ABCA1 | c.2803A= (p.Asn935=) c.2623A= (p.Asn875=) c.2878A= (p.Asn960=) c.2440A= (p.Asn814=) c.2740A= (p.Asn914=) n.3191A= | dbSNP |
| 9 | g.104822521T>A | CA374320147 | ABCA1 | c.2803A>T (p.Asn935Tyr) c.2623A>T (p.Asn875Tyr) c.2878A>T (p.Asn960Tyr) c.2440A>T (p.Asn814Tyr) c.2740A>T (p.Asn914Tyr) n.3191A>T | dbSNP |