Fig. 4: Splicing quantitative trait loci (sQTL) analysis.

a Schematic of alternative splicing as a mechanism for incomplete penetrance. b Labels for each of the nine predicted loss of function (pLoF) variants. Bars are colored by gene, labels indicate variant count per gene. Tx: transcript, pext: per base expression score, AB: allele balance. c Overview of pLoF variants in MEF2C in ClinVar and in gnomAD v4 (all variants, including exomes). Black box marks region of reduced mean pext score (from v2, blue bar, for one exon the score is not available [N/A]) and enrichment of MEF2C pLoF variants in gnomAD.