| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214997733T>C | CA2091771 | ABCA12 | c.3256A>G (p.Lys1086Glu) c.2302A>G (p.Lys768Glu) n.3556A>G n.3754A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.214997733T>A | CA10588333 | ABCA12 | c.3256A>T (p.Lys1086Ter) c.2302A>T (p.Lys768Ter) n.3556A>T n.3754A>T | ClinVar dbSNP |
| 2 | g.214997733T= | CA1327168332 | ABCA12 | c.3256A= (p.Lys1086=) c.2302A= (p.Lys768=) n.3556A= n.3754A= | dbSNP |