| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67181379C>T | CA062675 | SMAD3 | c.212C>T (p.Ser71Leu) c.482C>T (p.Ser161Leu) c.797C>T (p.Ser266Leu) n.500C>T c.665C>T (p.Ser222Leu) n.282+6795C>T c.650C>T (p.Ser217Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 15 | g.67181379C>A | CA16614549 | SMAD3 | c.212C>A (p.Ser71Ter) c.482C>A (p.Ser161Ter) c.797C>A (p.Ser266Ter) n.500C>A c.665C>A (p.Ser222Ter) n.282+6795C>A c.650C>A (p.Ser217Ter) | ClinVar dbSNP |