Table 1. Statistics of whole-exome sequencing results.
| Variation Type | E5 (NB) | E10 (NB) | E6 | E8 | Shared by NB |
|---|---|---|---|---|---|
| Missense | 7385 | 7032 | 8010 | 6624 | 662 |
| Synonymous | 8204 | 7678 | 8739 | 7317 | 739 |
| Nonsense | 77 | 75 | 84 | 72 | 9 |
| In splice sites | 32 | 26 | 31 | 21 | 3 |
| In a UTR | 2695 | 2763 | 2912 | 2345 | 284 |
| Intronic | 41457 | 44841 | 46277 | 36650 | 4404 |
| Intergenic | 9301 | 9163 | 10818 | 8111 | 808 |
| In dbSNP | 64952 | 67760 | 71348 | 57993 | 6744 |
| Not in dbSNP | 5172 | 4904 | 6700 | 3983 | 255 |
| Total SNPs | 70124 | 72664 | 78048 | 61976 | 6999 |
Variations in splice sites are those in the first two or last bases of the intron. Variations in introns exclude those mapping in splice sites. Family members are coded with an E followed by a number as in Figure 2.