Table 4.
Pathogenic variants in SMAD2, SMAD3, TGFB2, and TGFB3 present in ExAC
| Gene | Variant (p‐notation) | Times in ExAC |
|---|---|---|
| SMAD2 | p.Gln388Arg | 1/121108 |
| SMAD3 | p.Arg420His | 1/120914 |
| TGFB2 | p.Arg193Trp | 1/121376 |
| TGFB3 | p.Ile322Thr | 1/121368 |
| p.Asp327Tyr | 1/121378 |
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