Fig. 8
From: A validated heart-specific model for splice-disrupting variants in childhood heart disease
Altered splicing events in CHD genes in myocardium without an identified DNA variant. Family pedigrees with CHD showing representative aberrant splicing events in CHD genes without corresponding DNA variants are shown. a MAP2K1 (Tier 1), b ACTB (Tier 2), and c FBN2 (Tier 2). IGV screenshots of RNA-Seq data for all samples are shown TOF, tetralogy of Fallot; ECA, extra cardiac anomalies