| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.48921759G>A | CA8957657 | SMAD7 | c.894C>T (p.Leu298=) n.479C>T n.305C>T c.249C>T (p.Leu83=) n.201C>T n.283C>T c.891C>T (p.Leu297=) c.330C>T (p.Leu110=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.48921759G>C | CA8957659 | SMAD7 | c.894C>G (p.Leu298=) n.479C>G n.305C>G c.249C>G (p.Leu83=) n.201C>G n.283C>G c.891C>G (p.Leu297=) c.330C>G (p.Leu110=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.48921759G>T | CA8957658 | SMAD7 | c.894C>A (p.Leu298=) n.479C>A n.305C>A c.249C>A (p.Leu83=) n.201C>A n.283C>A c.891C>A (p.Leu297=) c.330C>A (p.Leu110=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |