Patient ID number | 33027 | 33281 | 33284 | 33463 | 37796 | 44409 | 46072 | 50845 | 59029 | 61606 |
NSV (frequency <0.4% in controls) | 2523 | 450 | 231 | 393 | 261 | 349 | 299 | 246 | 527 | 323 |
Genes with ≥2 NSV | 588 | 54 | 13 | 49 | 7 | 23 | 13 | 9 | 36 | 19 |
Known disease alleles | 0 | 0 | 0 | 1 (NDUFS3) | 0 | 0 | 0 | 0 | 1 (ACAD9) | 0 |
Known complex I subunits and assembly factors | 2 (NDUFS7/8) | 0 | 1 (NDUFS8) | 1 | 0 | 0 | 0 | 1 (NDUFB3) | 1 | 0 |
Mitochondrial localisation | 14 | 5 | 1 | 3 | 0 | 1 (MTFMT) | 0 | 1 | 3 | 1 (MTFMT) |
Mitochondrial localisation refers to genes coding for known mitochondrial proteins and proteins with a MitoP2-score ≥1.0.
Bold indicates gene carrying the causal mutations.
NSV, missense, nonsense, stoploss, splice site disruption, insertions, deletions.