Figure 2.

Variant filtering scheme for WES data. An iterative filtering approach was applied to SNVs and insertion/deletions identified in individuals IV.2 and IV.4 by WES. The population frequency of individual variants and their impact on protein structure or expression were assessed as inclusion criteria. While there were no variants at the 13q locus, 5 variants resided within the 1p locus. One of these occurred in TNNI3K, a gene that is highly and specifically expressed in the heart and has an established role in cardiac physiology.