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| Nkx2-5 Variant | Locus and nucleotide change | ESP MAF (%) | PolyPhen Prediction | N (in 80 controls) | N (in 188 cases) | N (in 25 ASD cases) |
|---|---|---|---|---|---|---|
| p.R25C | 5:172662014_G>A | 0.94 | Benign | 1 | 6 | 2 |
| p.E154G | 5:172660086T>C | 0 | Possibly damaging | 0 | 1 | 1 |
| p.G206fs | 5:172659929delC | 0 | NA | 0 | 1 | 1 |
| p.Y241fs | 5:172659819-172659826delACGCCGTA | 0 | NA | 0 | 1 | 1 |
| p.C270Y | 5:172659738C>T | 0 | Benign | 0 | 1 | 1 |
