| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.48921447G>C | CA8957608 | SMAD7 | c.1206C>G (p.Gly402=) n.791C>G n.513C>G c.1203C>G (p.Gly401=) c.561C>G (p.Gly187=) c.642C>G (p.Gly214=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.48921447G= | CA2301970011 | SMAD7 | c.1206C= (p.Gly402=) n.791C= n.513C= c.1203C= (p.Gly401=) c.561C= (p.Gly187=) c.642C= (p.Gly214=) | dbSNP |