Additional file 7 of A validated heart-specific model for splice-disrupting variants in childhood heart disease

Additional file7: Table S7. High-confidence DNA splice variants in CHD genes in CHD Extension cohort (n=947). Rare (gnomAD v2 allele frequency < 0.0001 and gnomAD v3 PopMax allele frequency < 0.0001) high-confidence splice-disrupting DNA variants in Tier 1 CHD genes or haploinsufficiency-intolerant (pLI≥0.9) Tier 2 CHD genes were identified in the Extension cohort. DNA variants were selected by weighted random forest model 4 (Extension cohort), yielding an additional 42 variants in Tier 1 CHD genes and 79 variants in Tier 2 CHD genes. All variant features used in random forest models are included. Clinical features of the proband harboring each DNA variant are additionally shown.