| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104861748C>T | CA5169380 | ABCA1 | c.474G>A (p.Leu158=) c.294G>A (p.Leu98=) c.549G>A (p.Leu183=) c.111G>A (p.Leu37=) c.411G>A (p.Leu137=) n.862G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.104861748C>G | CA5169381 | ABCA1 | c.474G>C (p.Leu158=) c.294G>C (p.Leu98=) c.549G>C (p.Leu183=) c.111G>C (p.Leu37=) c.411G>C (p.Leu137=) n.862G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104861748C= | CA1869911934 | ABCA1 | c.474G= (p.Leu158=) c.294G= (p.Leu98=) c.549G= (p.Leu183=) c.111G= (p.Leu37=) c.411G= (p.Leu137=) n.862G= | dbSNP |