| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104794495T>G | CA5167833 | ABCA1 | c.5398A>C (p.Asn1800His) c.5404A>C (p.Asn1802His) c.5224A>C (p.Asn1742His) c.5479A>C (p.Asn1827His) c.5473A>C (p.Asn1825His) c.5041A>C (p.Asn1681His) c.5341A>C (p.Asn1781His) n.5792A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104794495T>C | CA374313167 | ABCA1 | c.5398A>G (p.Asn1800Asp) c.5404A>G (p.Asn1802Asp) c.5224A>G (p.Asn1742Asp) c.5479A>G (p.Asn1827Asp) c.5473A>G (p.Asn1825Asp) c.5041A>G (p.Asn1681Asp) c.5341A>G (p.Asn1781Asp) n.5792A>G | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104794495T= | CA1869923076 | ABCA1 | c.5398A= (p.Asn1800=) c.5404A= (p.Asn1802=) c.5224A= (p.Asn1742=) c.5479A= (p.Asn1827=) c.5473A= (p.Asn1825=) c.5041A= (p.Asn1681=) c.5341A= (p.Asn1781=) n.5792A= | dbSNP |