Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.67164965C>T | CA062085 | SMAD3 | c.-39C>T (n.-39C>T) c.277C>T (p.Arg93Ter) c.145C>T (p.Arg49Ter) c.222C>T (p.Gly74=) n.127C>T c.130C>T (p.Arg44Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.67164965C>A | CA491071601 | SMAD3 | c.-39C>A (n.-39C>A) c.277C>A (p.Arg93=) c.145C>A (p.Arg49=) c.222C>A (p.Gly74=) n.127C>A c.130C>A (p.Arg44=) | dbSNP |