Table 2.
Number of variants identified per individual and shared between four affected individuals
| Filtration steps | Individual 1 | Individual 2 | Individual 3 | Individual 4 | Variants shared by all 4 individuals |
|---|---|---|---|---|---|
| Total number of variants | 45.755 | 47.697 | 45.417 | 41.943 | 21.447 |
| SNP frequency <0.5 | 28.789 | 30.381 | 28.614 | 26.252 | 9.065 |
| In-house database frequency <0.5 | 2.152 | 2.529 | 2.503 | 2.373 | 55 |
| Exonic and canonical splice site variants | 796 | 873 | 961 | 987 | 33 |
| Nonsynonmous variants | 535 | 620 | 682 | 696 | 18 |
| Grantham score >80 | 248 | 268 | 302 | 323 | 4 |
| Phylop >2.7 | 22 | 31 | 24 | 22 | 9 |