| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.218441257C>G | CA16603492 | TGFB2 | c.1140C>G (p.Cys380Trp) c.1224C>G (p.Cys408Trp) n.624C>G n.2443C>G n.2527C>G n.2391C>G n.2475C>G | ClinVar dbSNP |
| 1 | g.218441257C>T | CA1398687 | TGFB2 | c.1140C>T (p.Cys380=) c.1224C>T (p.Cys408=) n.624C>T n.2443C>T n.2527C>T n.2391C>T n.2475C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.218441257C= | CA1143462778 | TGFB2 | c.1140C= (p.Cys380=) c.1224C= (p.Cys408=) n.624C= n.2443C= n.2527C= n.2391C= n.2475C= | dbSNP |
| 1 | g.218441257C>A | CA344727870 | TGFB2 | c.1140C>A (p.Cys380Ter) c.1224C>A (p.Cys408Ter) n.624C>A n.2443C>A n.2527C>A n.2391C>A n.2475C>A | ClinVar dbSNP |