| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99142683T>G | CA008882 | TGFBR1 | c.746T>G (p.Met249Arg) c.758T>G (p.Met253Arg) c.527T>G (p.Met176Arg) c.515T>G (p.Met172Arg) c.*749T>G (n.*749T>G) c.953T>G (p.Met318Arg) c.722T>G (p.Met241Arg) c.965T>G (p.Met322Arg) | ClinVar dbSNP |
| 9 | g.99142683T= | CA1867260218 | TGFBR1 | c.746T= (p.Met249=) c.758T= (p.Met253=) c.527T= (p.Met176=) c.515T= (p.Met172=) c.*749T= (n.*749T=) c.953T= (p.Met318=) c.722T= (p.Met241=) c.965T= (p.Met322=) | dbSNP |
| 9 | g.99142683T>C | CA374230802 | TGFBR1 | c.746T>C (p.Met249Thr) c.758T>C (p.Met253Thr) c.527T>C (p.Met176Thr) c.515T>C (p.Met172Thr) c.*749T>C (n.*749T>C) c.953T>C (p.Met318Thr) c.722T>C (p.Met241Thr) c.965T>C (p.Met322Thr) | ClinVar dbSNP |