Additional file 10 of Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

Additional file 10: Table S9. Analytical analysis of disease burden. Burdens for each MLD subtype were predicted using allele frequencies from gnomAD and our phenotype matrix. Calculations were performed using patient-based severity, as defined by our variant-severity criteria, and repeated using activity-based severity determined by MS/MS. 95% percent confidence intervals were calculated using the analytical method, except for the “Unknown” and “Asymptomatic” incidence rates, which rely on 95% confidence intervals calculated through numeric simulation. gnomAD, Genome Aggregation Database; MS/MS, tandem mass spectrometry.