| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30691504C>A | CA351809659 | TGFBR2 | c.1609C>A (p.Arg537Ser) n.493C>A n.3205C>A n.487C>A c.1684C>A (p.Arg562Ser) c.1636C>A (p.Arg546Ser) c.1561C>A (p.Arg521Ser) c.1504C>A (p.Arg502Ser) | dbSNP |
| 3 | g.30691504C>T | CA020742 | TGFBR2 | c.1609C>T (p.Arg537Cys) n.493C>T n.3205C>T n.487C>T c.1684C>T (p.Arg562Cys) c.1636C>T (p.Arg546Cys) c.1561C>T (p.Arg521Cys) c.1504C>T (p.Arg502Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.30691504C>G | CA351809660 | TGFBR2 | c.1609C>G (p.Arg537Gly) n.493C>G n.3205C>G n.487C>G c.1684C>G (p.Arg562Gly) c.1636C>G (p.Arg546Gly) c.1561C>G (p.Arg521Gly) c.1504C>G (p.Arg502Gly) | dbSNP |