ns: p > 0.05, *: p <= 0.05, **: p <= 0.01, ***: p <= 0.001, ****: p <= 0.0001

Abbreviations for samples: VC - Validation Cohort. KC - Knock Out Cohort. UDP - Undiagnosed Patient. SC - Supporting Cohort.

For Relative Complex Abundance (RCA) plot, MS2 intensity from proteins belonging to OXPHOS complexes were plotted in R calculating the difference between the sample of interest and control MS2 intensities for each subunit. The mean and standard deviation were then calculated, along with the confidence interval based on the t-statistic for each complex (calculated from the difference between the control and sample of interest from each subunit). A paired t-test calculated significance between the control and sample of interest relative abundances for each complex.