| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30691477C>A | CA351809603 | TGFBR2 | c.1582C>A (p.Arg528Ser) n.466C>A n.3178C>A n.460C>A c.1657C>A (p.Arg553Ser) c.1609C>A (p.Arg537Ser) c.1534C>A (p.Arg512Ser) c.1477C>A (p.Arg493Ser) | ClinVar dbSNP |
| 3 | g.30691477C>G | CA351809604 | TGFBR2 | c.1582C>G (p.Arg528Gly) n.466C>G n.3178C>G n.460C>G c.1657C>G (p.Arg553Gly) c.1609C>G (p.Arg537Gly) c.1534C>G (p.Arg512Gly) c.1477C>G (p.Arg493Gly) | ClinVar dbSNP |
| 3 | g.30691477C>T | CA020726 | TGFBR2 | c.1582C>T (p.Arg528Cys) n.466C>T n.3178C>T n.460C>T c.1657C>T (p.Arg553Cys) c.1609C>T (p.Arg537Cys) c.1534C>T (p.Arg512Cys) c.1477C>T (p.Arg493Cys) | ClinVar dbSNP COSMIC COSMIC |