| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.215011631G>A | CA2092022 | ABCA12 | c.2140C>T (p.Arg714Ter) c.1186C>T (p.Arg396Ter) n.2384C>T n.2582C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.215011631G>T | CA431151530 | ABCA12 | c.2140C>A (p.Arg714=) c.1186C>A (p.Arg396=) n.2384C>A n.2582C>A | dbSNP gnomAD v2 gnomAD v4 |