| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.168598828T>C | CA453125791 | SMOC2 | c.648T>C (p.Cys216=) c.681T>C (p.Cys227=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.168598828T>A | CA10576052 | SMOC2 | c.648T>A (p.Cys216Ter) c.681T>A (p.Cys227Ter) | ClinVar dbSNP |