| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.66781495G>T | CA281907 | SMAD6 | c.1451G>T (p.Cys484Phe) n.2506G>T c.668G>T (p.Cys223Phe) n.2606G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.66781495G>A | CA393202564 | SMAD6 | c.1451G>A (p.Cys484Tyr) n.2506G>A c.668G>A (p.Cys223Tyr) n.2606G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.66781495G= | CA2184234982 | SMAD6 | c.1451G= (p.Cys484=) n.2506G= c.668G= (p.Cys223=) n.2606G= | dbSNP |