Table 1.
Non- synonymous variants identified in the sequencing results
| Variants | AA change | Novel | Exon | Sift Prediction | Polyphen Prediction | MAF (%) | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Score | Prediction | Score | Prediction | Control | PS | PSE | ||||
| +21059 C/T | 333A > T | Yes | 5 | 0.28 | Tolerated | 0 | Benign | 0 | 0.5 | 0 |
| +21029 C/G | 323A > P | Yes | 5 | 0.08 | Tolerated | 0.476 | Possibly damaging | 0.5 | 0 | 0 |
| rs2296651 | 267S > F | No | 4 | 0.31 | Tolerated | 0.88 | Probably damaging | 0.9 | 0.9 | 2.3 |
| +18885 A/G | 256 M > T | Yes | 4 | 0 | Damaging | 0.839 | Possibly damaging | 0 | 0 | 0.5 |
| +18131 A/G | 222 L > S | Yes | 3 | 0 | Damaging | 0.637 | Possibly damaging | 0 | 0 | 0.5 |
| rs202213974 | 200 V > M | No | 3 | 0 | Damaging | 0.819 | Possibly damaging | 0 | 0 | 0.5 |
| +11121 G/C | 131 L > V | Yes | 2 | 0.23 | Tolerated | 0.484 | Possibly damaging | 0.5 | 0 | 0 |
| rs148467625 | 88I > T | No | 1 | 0.57 | Tolerated | 0.072 | Benign | 0.5 | 0.5 | 0 |