| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104822514G>A | CA120482 | ABCA1 | c.2810C>T (p.Ala937Val) c.2630C>T (p.Ala877Val) c.2885C>T (p.Ala962Val) c.2447C>T (p.Ala816Val) c.2747C>T (p.Ala916Val) n.3198C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104822514G= | CA1869953950 | ABCA1 | c.2810C= (p.Ala937=) c.2630C= (p.Ala877=) c.2885C= (p.Ala962=) c.2447C= (p.Ala816=) c.2747C= (p.Ala916=) n.3198C= | dbSNP |