Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.67181441C>A | CA490915796 | SMAD3 | c.274C>A (p.Arg92=) c.544C>A (p.Arg182=) c.859C>A (p.Arg287=) n.562C>A c.727C>A (p.Arg243=) n.282+6857C>A c.712C>A (p.Arg238=) | dbSNP gnomAD v4 |
15 | g.67181441C>T | CA020130 | SMAD3 | c.274C>T (p.Arg92Trp) c.544C>T (p.Arg182Trp) c.859C>T (p.Arg287Trp) n.562C>T c.727C>T (p.Arg243Trp) n.282+6857C>T c.712C>T (p.Arg238Trp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |