| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99144810A>C | CA322591 | TGFBR1 | c.845A>C (p.Asp282Ala) c.857A>C (p.Asp286Ala) c.626A>C (p.Asp209Ala) c.614A>C (p.Asp205Ala) c.*848A>C (n.*848A>C) c.1052A>C (p.Asp351Ala) c.821A>C (p.Asp274Ala) c.1064A>C (p.Asp355Ala) | ClinVar dbSNP |
| 9 | g.99144810A= | CA1867262067 | TGFBR1 | c.845A= (p.Asp282=) c.857A= (p.Asp286=) c.626A= (p.Asp209=) c.614A= (p.Asp205=) c.*848A= (n.*848A=) c.1052A= (p.Asp351=) c.821A= (p.Asp274=) c.1064A= (p.Asp355=) | dbSNP |