| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30674196C>G | CA16611314 | TGFBR2 | c.1346C>G (p.Ser449Cys) n.2942C>G n.224C>G c.1421C>G (p.Ser474Cys) c.1373C>G (p.Ser458Cys) c.1298C>G (p.Ser433Cys) c.1241C>G (p.Ser414Cys) | ClinVar dbSNP |
| 3 | g.30674196C>T | CA020657 | TGFBR2 | c.1346C>T (p.Ser449Phe) n.2942C>T n.224C>T c.1421C>T (p.Ser474Phe) c.1373C>T (p.Ser458Phe) c.1298C>T (p.Ser433Phe) c.1241C>T (p.Ser414Phe) | ClinVar dbSNP |
| 3 | g.30674196C>A | CA351809065 | TGFBR2 | c.1346C>A (p.Ser449Tyr) n.2942C>A n.224C>A c.1421C>A (p.Ser474Tyr) c.1373C>A (p.Ser458Tyr) c.1298C>A (p.Ser433Tyr) c.1241C>A (p.Ser414Tyr) | dbSNP COSMIC COSMIC |