| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99138008T>C | CA324960 | TGFBR1 | c.517T>C (p.Trp173Arg) c.529T>C (p.Trp177Arg) c.380-4528T>C (n.380-4528T>C) c.286T>C (p.Trp96Arg) c.*520T>C (n.*520T>C) c.724T>C (p.Trp242Arg) c.493T>C (p.Trp165Arg) c.736T>C (p.Trp246Arg) | ClinVar dbSNP |
| 9 | g.99138008T= | CA1867255900 | TGFBR1 | c.517T= (p.Trp173=) c.529T= (p.Trp177=) c.380-4528T= (n.380-4528T=) c.286T= (p.Trp96=) c.*520T= (n.*520T=) c.724T= (p.Trp242=) c.493T= (p.Trp165=) c.736T= (p.Trp246=) | dbSNP |