| submitted variants | 164 | |
| discarded alleles before analysis | 134 | |
| intratranscriptic variants (MT+RS) | 18 | |
| MutationTaster analyses (variant/transcript pairs) | ||
| type | without_aae | 37 |
| type | simple_aae | 12 |
| prediction | disease causing | 29 |
| prediction | polymorphism | 20 |
| Regulation Spotter only | ||
| extratranscriptic variant (RS only) | 12 | |
Analysis options | ||
| coverage threshold | 4 | |
| analysis restricted to | genes | |