| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99137883C>G | CA374229387 | TGFBR1 | c.392C>G (p.Thr131Arg) c.404C>G (p.Thr135Arg) c.380-4653C>G (n.380-4653C>G) c.161C>G (p.Thr54Arg) c.*395C>G (n.*395C>G) c.599C>G (p.Thr200Arg) c.368C>G (p.Thr123Arg) c.611C>G (p.Thr204Arg) | dbSNP |
| 9 | g.99137883C>T | CA008835 | TGFBR1 | c.392C>T (p.Thr131Ile) c.404C>T (p.Thr135Ile) c.380-4653C>T (n.380-4653C>T) c.161C>T (p.Thr54Ile) c.*395C>T (n.*395C>T) c.599C>T (p.Thr200Ile) c.368C>T (p.Thr123Ile) c.611C>T (p.Thr204Ile) | ClinVar dbSNP |
| 9 | g.99137883C= | CA1867255601 | TGFBR1 | c.392C= (p.Thr131=) c.404C= (p.Thr135=) c.380-4653C= (n.380-4653C=) c.161C= (p.Thr54=) c.*395C= (n.*395C=) c.599C= (p.Thr200=) c.368C= (p.Thr123=) c.611C= (p.Thr204=) | dbSNP |