Table 1.
Frequencies of SNVs in VIVA children (N=916)
| Type of Mutation | Singletons | Singletons (%) | Doubletons | Doubletons (%) | Triple or more | Triple or more (%) | Total |
|---|---|---|---|---|---|---|---|
| Missense | 40,704 | 61.3 | 32,944 | 59.8 | 73,060 | 52.9 | 146,708 |
| Nonsense | 973 | 1.5 | 755 | 1.4 | 1,069 | 0.8 | 2,797 |
| Synonymous | 24,712 | 37.2 | 21,398 | 38.8 | 64,002 | 46.3 | 110,112 |
| Total | 66,389 | 100 | 55,097 | 100 | 13,8131 | 100 | 259,617 |
| Polyphen2 missense classification | |||||||
| Benign * | 22,186 | 55.3 | 18,158 | 56.0 | 47,253 | 65.9 | 87,597 |
| Possibly damaging * | 6,774 | 16.9 | 5,615 | 17.3 | 10,486 | 14.6 | 22,875 |
| Probably damaging * | 11,130 | 27.8 | 8,671 | 26.7 | 13,919 | 19.4 | 33,720 |
| Total ** | 40,090 | 100 | 32,444 | 100 | 71,658 | 100 | 144,192 |
*
Functional prediction according to Polyphen2. For variants where different splice forms had different predictions, the most damaging was chosen
**
Total not matching above missense count because not all variants had Polyphen2 prediction