Table 2.
Number of variants detected in pooled sequencing discovery screen.
| Variant type | High Confidence Variant Calls |
Low Confidence Variant Calls |
||||
|---|---|---|---|---|---|---|
| Detected in Patients | Likely Deleterious | Validated | Detected in Patients | Likely Deleterious | Validated | |
| nDNA | ||||||
| nonsense | 3 | 2 | 1 | 5 | 5 | 1 |
| missense | 131 | 60 | 51 | 97 | 86 | 9 |
| splice | 78 | 28 | 22 | 40 | 16 | 2 |
| synonymous | 92 | 0 | 0 | 33 | 0 | 0 |
| UTR | 214 | 0 | 0 | 71 | 0 | 0 |
| coding indels | 3 | 3 | 3 | 0 | 0 | 0 |
| mtDNA | ||||||
| nonsense | 0 | 0 | 0 | 0 | 0 | 0 |
| missense | 37 | 14 | 12 | 0 | 0 | 0 |
| synonymous | 85 | 0 | 0 | 0 | 0 | 0 |
| noncoding | 9 | 2 | 2 | 0 | 0 | 0 |
| Total | 652 | 109 | 91 | 246 | 107 | 12 |