| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30688470C>T | CA020690 | TGFBR2 | c.1483C>T (p.Arg495Ter) n.367C>T n.3079C>T n.361C>T c.1558C>T (p.Arg520Ter) c.1510C>T (p.Arg504Ter) c.1435C>T (p.Arg479Ter) c.1378C>T (p.Arg460Ter) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30688470C>G | CA351809378 | TGFBR2 | c.1483C>G (p.Arg495Gly) n.367C>G n.3079C>G n.361C>G c.1558C>G (p.Arg520Gly) c.1510C>G (p.Arg504Gly) c.1435C>G (p.Arg479Gly) c.1378C>G (p.Arg460Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.30688470C>A | CA432917834 | TGFBR2 | c.1483C>A (p.Arg495=) n.367C>A n.3079C>A n.361C>A c.1558C>A (p.Arg520=) c.1510C>A (p.Arg504=) c.1435C>A (p.Arg479=) c.1378C>A (p.Arg460=) | ClinVar dbSNP gnomAD v4 |