Fig. 6
From: A validated heart-specific model for splice-disrupting variants in childhood heart disease
Representative splice-disrupting variants in CHD genes. Family pedigrees with CHD harboring representative high-confidence splice disrupting variants in Tier 1 and 2 genes are shown. a TBX20 (Tier 1), b NOTCH1 (Tier 1), c CGNL1 (Tier 2), d CHD7 (Tier 1), e EFTUD2 (Tier 1), and f ACTB (Tier 2). Wild-type exon/intron boundaries below IGV screenshots of RNA-Seq data are represented in black, and alternatively observed boundaries are represented in red. FRASER statistics for outlier splicing events are written below the alternative boundaries. Arrows next to gene names represent reading direction. Purple arrows represent location of DNA splice-disrupting variant. TOF, tetralogy of Fallot; ECA, extracardiac anomalies