| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.67165360A>G | CA020092 | SMAD3 | c.193A>G (p.Ile65Val) c.508A>G (p.Ile170Val) c.376A>G (p.Ile126Val) n.358A>G c.400+272A>G (n.400+272A>G) c.361A>G (p.Ile121Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.67165360A= | CA2184410902 | SMAD3 | c.193A= (p.Ile65=) c.508A= (p.Ile170=) c.376A= (p.Ile126=) n.358A= c.400+272A= (n.400+272A=) c.361A= (p.Ile121=) | dbSNP |