| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30691505G>A | CA16604407 | TGFBR2 | c.1610G>A (p.Arg537His) n.494G>A n.3206G>A n.488G>A c.1685G>A (p.Arg562His) c.1637G>A (p.Arg546His) c.1562G>A (p.Arg521His) c.1505G>A (p.Arg502His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.30691505G>C | CA351809661 | TGFBR2 | c.1610G>C (p.Arg537Pro) n.494G>C n.3206G>C n.488G>C c.1685G>C (p.Arg562Pro) c.1637G>C (p.Arg546Pro) c.1562G>C (p.Arg521Pro) c.1505G>C (p.Arg502Pro) | ClinVar dbSNP |