Table 1. Phenotypic distributions for affected patients in both the discovery and replication cohorts.

Phenotype	Discovery Cohort	Replication Cohort
Conotruncal Lesions	28 (33.7%)	70 (21.6%)
Left Sided Obstructive Lesions	0 (0%)	2 (0.6%)
Right Sided Obstructive Lesions	5 (6%)	20 (6.2%)
Septal Defects	37 (44.6%)	123 (38%)
Single Ventricle Lesions	1 (1.2%)	83 (25.6%)
Valvular Defects	3 (3.6%)	18 (5.6%)
Complex Defects*	9 (10.8%)	8 (2.5%)
Total	83	325

*Complex defects refer to those lesions that had elements of multiple classes or did not conform to the preceding classifications.