Table 1.

Comparison of Functional Annotation With In Silico Predictions for Pathogenic COL4A3 and COL4A5 Variants Identified in the FSGS Cohort

Gene	No. of Pathogenic Variants	No. Predicted Deleterious by 10/12 Programs	No. of Variants With Secretory Defect	Congruence
COL4A3	3	3	3	100%
COL4A5	6	6	6	100%

Note: All pathogenic COL4A3 and COL4A5 variants were categorized as such as a result of being identified in other kidney disease cases. All pathogenic variants demonstrated a secretory defect with functional characterization and were correctly assigned by in silico predictions.

Abbreviation: FSGS, focal segmental glomerulosclerosis.