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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