| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99146498G>A | CA320850 | TGFBR1 | c.937G>A (p.Glu313Lys) c.949G>A (p.Glu317Lys) c.*66G>A (n.*66G>A) c.706G>A (p.Glu236Lys) c.*940G>A (n.*940G>A) c.1144G>A (p.Glu382Lys) c.913G>A (p.Glu305Lys) c.1143-1156G>A (n.1143-1156G>A) c.1156G>A (p.Glu386Lys) | ClinVar dbSNP |
| 9 | g.99146498G= | CA1867263793 | TGFBR1 | c.937G= (p.Glu313=) c.949G= (p.Glu317=) c.*66G= (n.*66G=) c.706G= (p.Glu236=) c.*940G= (n.*940G=) c.1144G= (p.Glu382=) c.913G= (p.Glu305=) c.1143-1156G= (n.1143-1156G=) c.1156G= (p.Glu386=) | dbSNP |