| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30674228C>G | CA351809137 | TGFBR2 | c.1378C>G (p.Arg460Gly) n.2974C>G n.256C>G c.1453C>G (p.Arg485Gly) c.1405C>G (p.Arg469Gly) c.1330C>G (p.Arg444Gly) c.1273C>G (p.Arg425Gly) | ClinVar dbSNP |
| 3 | g.30674228C>A | CA351809136 | TGFBR2 | c.1378C>A (p.Arg460Ser) n.2974C>A n.256C>A c.1453C>A (p.Arg485Ser) c.1405C>A (p.Arg469Ser) c.1330C>A (p.Arg444Ser) c.1273C>A (p.Arg425Ser) | ClinVar dbSNP |
| 3 | g.30674228C>T | CA020661 | TGFBR2 | c.1378C>T (p.Arg460Cys) n.2974C>T n.256C>T c.1453C>T (p.Arg485Cys) c.1405C>T (p.Arg469Cys) c.1330C>T (p.Arg444Cys) c.1273C>T (p.Arg425Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |