| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214987734G>A | CA2091600 | ABCA12 | c.3889C>T (p.Arg1297Ter) c.2935C>T (p.Arg979Ter) n.4189C>T n.4387C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214987734G>T | CA64824993 | ABCA12 | c.3889C>A (p.Arg1297=) c.2935C>A (p.Arg979=) n.4189C>A n.4387C>A | dbSNP gnomAD v3 gnomAD v4 |