| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.99138042T>A | CA374230202 | TGFBR1 | c.551T>A (p.Met184Lys) c.563T>A (p.Met188Lys) c.380-4494T>A (n.380-4494T>A) c.320T>A (p.Met107Lys) c.*554T>A (n.*554T>A) c.758T>A (p.Met253Lys) c.527T>A (p.Met176Lys) c.770T>A (p.Met257Lys) | dbSNP |
| 9 | g.99138042T>C | CA321603 | TGFBR1 | c.551T>C (p.Met184Thr) c.563T>C (p.Met188Thr) c.380-4494T>C (n.380-4494T>C) c.320T>C (p.Met107Thr) c.*554T>C (n.*554T>C) c.758T>C (p.Met253Thr) c.527T>C (p.Met176Thr) c.770T>C (p.Met257Thr) | ClinVar dbSNP |