| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.36865660G>A | CA211296 | SMAD9 | c.769C>T (p.Arg257Ter) c.880C>T (p.Arg294Ter) c.*479C>T (n.*479C>T) c.622C>T (p.Arg208Ter) c.511C>T (p.Arg171Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.36865660G= | CA2084874397 | SMAD9 | c.769C= (p.Arg257=) c.880C= (p.Arg294=) c.*479C= (n.*479C=) c.622C= (p.Arg208=) c.511C= (p.Arg171=) | dbSNP |