| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30688482G>A | CA351809397 | TGFBR2 | c.1495G>A (p.Glu499Lys) n.379G>A n.3091G>A n.373G>A c.1570G>A (p.Glu524Lys) c.1522G>A (p.Glu508Lys) c.1447G>A (p.Glu483Lys) c.1390G>A (p.Glu464Lys) | dbSNP |
| 3 | g.30688482G>C | CA351809398 | TGFBR2 | c.1495G>C (p.Glu499Gln) n.379G>C n.3091G>C n.373G>C c.1570G>C (p.Glu524Gln) c.1522G>C (p.Glu508Gln) c.1447G>C (p.Glu483Gln) c.1390G>C (p.Glu464Gln) | dbSNP |
| 3 | g.30688482G>T | CA020693 | TGFBR2 | c.1495G>T (p.Glu499Ter) n.379G>T n.3091G>T n.373G>T c.1570G>T (p.Glu524Ter) c.1522G>T (p.Glu508Ter) c.1447G>T (p.Glu483Ter) c.1390G>T (p.Glu464Ter) | ClinVar dbSNP |