| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.36872722G>A | CA6950518 | SMAD9 | c.606C>T (p.Cys202=) c.*316C>T (n.*316C>T) c.413-5339C>T (n.413-5339C>T) c.412+6556C>T (n.412+6556C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.36872722G>T | CA211247 | SMAD9 | c.606C>A (p.Cys202Ter) c.*316C>A (n.*316C>A) c.413-5339C>A (n.413-5339C>A) c.412+6556C>A (n.412+6556C>A) | ClinVar dbSNP |
| 13 | g.36872722G= | CA2084878067 | SMAD9 | c.606C= (p.Cys202=) c.*316C= (n.*316C=) c.413-5339C= (n.413-5339C=) c.412+6556C= (n.412+6556C=) | dbSNP |