Table 2.
Detailed whole-exome sequencing data for SNPs detected in the four family members
| Type | Father | Mother | Son-case | Son-control |
|---|---|---|---|---|
| Total number of SNPs from each member | 112,238 | 111,822 | 107,122 | 111,669 |
| Missense | 13,246 | 13,221 | 12,748 | 12,748 |
| Readthrough | 92 | 88 | 86 | 85 |
| Nonsense | 177 | 155 | 158 | 157 |
| Splice site | 2798 | 2732 | 2647 | 2731 |
| Synonymous-coding | 10,876 | 10,763 | 10,318 | 10,386 |
| 5′-UTR | 9211 | 9055 | 8741 | 9040 |
| 3′-UTR | 3387 | 3421 | 3238 | 3425 |
| Intronic | 70,013 | 69,952 | 66,830 | 70,645 |
| Intergenic | 2438 | 2435 | 2356 | 2452 |
| Homozygous | 45,121 | 44,639 | 49,047 | 48,643 |
| Heterozygous | 67,117 | 67,183 | 58,075 | 63,026 |
| Total number of SNPs from all members | 154,336 |