| 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 |