Table 3. Direct identification of the causal gene for the family by exome sequencing.
| Ⅳ3 | Ⅳ20 | Ⅳ3 and Ⅳ20 shared | |
|---|---|---|---|
| Ns/Indel/SV | 32492 | 32417 | 15215 |
| Non-syn(missense/nonsense/splicesites/readthrough) | 6968 | 6991 | 3250 |
| Not in dbSNP 129 | 911 | 930 | 178 |
| not in dbSNP129 nor Hapmap8 | 650 | 666 | 83 |
| not in dbSNP129 nor Hapmap8 nor 1000 genomes | 484 | 457 | 51 |
| Predicted to be deleterious | 206 | 203 | 21 |
Rows show the stepwise screening of the total non-synonymous/splice acceptor and donor site/insertions or deletions (NS/SS/Indel) to exclude those found in dbSNP129, the eight HapMap exomes, the dbSNP 1000 genomes, or all. Columns indicate the the number of NS/SS/Indel variants observed in each affected individual (Columns 2–3) or both affected individuals (Columns 4) following exclusion criteria.