| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99146553A>G | CA008717 | TGFBR1 | c.992A>G (p.Asp331Gly) c.1004A>G (p.Asp335Gly) c.*121A>G (n.*121A>G) c.761A>G (p.Asp254Gly) c.*995A>G (n.*995A>G) c.1199A>G (p.Asp400Gly) c.968A>G (p.Asp323Gly) c.1143-1101A>G (n.1143-1101A>G) c.1211A>G (p.Asp404Gly) | ClinVar dbSNP |
| 9 | g.99146553A= | CA1867263867 | TGFBR1 | c.992A= (p.Asp331=) c.1004A= (p.Asp335=) c.*121A= (n.*121A=) c.761A= (p.Asp254=) c.*995A= (n.*995A=) c.1199A= (p.Asp400=) c.968A= (p.Asp323=) c.1143-1101A= (n.1143-1101A=) c.1211A= (p.Asp404=) | dbSNP |