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Table 1 Details of clinical and diagnostic analysis for TOF and VSD samples used for whole-exome sequencing (*) and validation (without asterisk)

From: Whole-exome sequencing and homozygosity mapping identify variants in NCOR1 and MAP2K3 associated with non-syndromic congenital heart defects

Characteristic features Age (years) Sex (M/F) VSD hole (in cm) Morphology of VSD and TOF Pulmonary artery
TOF-1* 8 M 1.65 Subaortic Normal
TOF-2* 23 M Large VSD Mild
TOF-3* 4 M 0.50 Normal
TOF-4 1 F Large VSD Normal
TOF-5 52 M 3.2 Infundibular
TOF-6 3 M 1.50 Normal
TOF-7 37 F 2.6 Normal
TOF-8 20 F Large VSD Dilated
TOF-9 57 M 1.43 Normal
TOF-10 15 M Large VSD Normal
TOF-11 0.50 M Large VSD Normal
VSD-1* 25 M 4.10 P Dilated
VSD-2* 3.5 M 1.30 P Normal
VSD-3* 1 F 0.50 P Normal
VSD-4* 26 M 2.10 P Normal
VSD-5* 21 M 1.00 S Normal
VSD-6* 25 F 2.40 P Dilated
VSD-7* 0.40 F 0.60 P Dilated
VSD-8 1 F 0.50 Mild muscular Normal
VSD-9 0.9 M 0.90 P Normal
VSD-10 10 F 0.50 P Normal
VSD-11 2 M 0.50 Subaortic VSD Normal
VSD-12 2 M 0.50 P Normal
VSD-13 3 F 0.50 P Norma
VSD-14 1 F 0.50 Subaortic VSD Normal
VSD-15 42 M 0.50 P Dilated
VSD-16 1 M 0.50 Subaortic VSD Normal
VSD-17 2 M 0.50 P Dilated
VSD-18 27 F 0.50 Subaortic VSD Normal
VSD-19 2 F 0.60 P Dilated
VSD-20 58 M 2.60 Subaortic VSD Dilated
VSD-21 3 F 0.50 P Dilated
VSD-22 25 F 0.50 Subaortic VSD Normal
VSD-23 3 M 0.50 Outlet Normal
VSD-24 8 days M 0.50 Subaortic VSD Dilated
VSD-25 2 F 0.50 Subaortic VSD Dilated
Nor-1 6 M No hole Normal Normal
Nor-2 12 F
Nor-3 8 M
Nor-4 1.5 M
Nor-5 14 M
Nor-6 12 F
Nor-7 0.75 M
Nor-8 2 M
Nor-9 1 F
Nor-10 16 M
  1. All TOF cases have pulmonary valve stenosis, aortic overriding, and right ventricular hypertrophy
  2. Mild moderate pulmonary regurgitation, P perimembranous VSD, M male, F female, Nor normal