Table 2.
Exome sequencing: number of deleterious variants found in patients with HCS
| Number of individuals | # Genes with novel missense mutations | # Genes with novel nonsense mutations | # Genes with novel indels | # Genes with novel splice site mutations |
|---|---|---|---|---|
| 1 | 1,539 | 58 | 461 | 35 |
| 2 | 192 | 4 | 156 | 7 |
| 3 | 49 | 3 | 103 | 4 |
| 4 | 22 | 1 | 86 | 2 |
| 5 | 14 | 1 | 64 | 1 |
| 6 | 10 | 0 | 30 | 0 |