| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.30691471G>A | CA351809591 | TGFBR2 | c.1576G>A (p.Glu526Lys) n.460G>A n.3172G>A n.454G>A c.1651G>A (p.Glu551Lys) c.1603G>A (p.Glu535Lys) c.1528G>A (p.Glu510Lys) c.1471G>A (p.Glu491Lys) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.30691471G>C | CA020721 | TGFBR2 | c.1576G>C (p.Glu526Gln) n.460G>C n.3172G>C n.454G>C c.1651G>C (p.Glu551Gln) c.1603G>C (p.Glu535Gln) c.1528G>C (p.Glu510Gln) c.1471G>C (p.Glu491Gln) | ClinVar dbSNP |
| 3 | g.30691471G>T | CA351809592 | TGFBR2 | c.1576G>T (p.Glu526Ter) n.460G>T n.3172G>T n.454G>T c.1651G>T (p.Glu551Ter) c.1603G>T (p.Glu535Ter) c.1528G>T (p.Glu510Ter) c.1471G>T (p.Glu491Ter) | dbSNP |
| 3 | g.30691471G= | CA1354881682 | TGFBR2 | c.1576G= (p.Glu526=) n.460G= n.3172G= n.454G= c.1651G= (p.Glu551=) c.1603G= (p.Glu535=) c.1528G= (p.Glu510=) c.1471G= (p.Glu491=) | dbSNP |