Table 2 Demographic and variant information for CHD8^+/− training signature cases and age-, sex-matched controls

11654.p1

F

12.5

ASD

c.3517 A>G

p.Arg1173Gly

16

De novo

12714.p1

M

5

ASD

c.185C>G

p.Ser62X

1

De novo

12752.p1

F

8

ASD

c.6359_6360del

p.Leu2120ProfsX

32

De novo

12991.p1

M

16

ASD

c.6307_6308del

p.Glu2103ArgfsX

31

De novo

13844.p1

M

5

ASD

c.3712C>T

p.Gln1238X

17

De novo

14016.p1

M

14

ASD

c.4009C>T

p.Arg1337X

19

De novo

14233.p1

M

10

ASD

c.7113_7114del

p.Asn2371LysfsX2

36

De novo

EP48W

F

11

Control

EP58W

M

15

Control

EP41W

M

16

Control

EH-268 W

F

6

Control

JS-265 W

M

16

Control

EP34W

F

13

Control

TG-278 W

M

13

Control

TB-342/1706

M

16

Control

EP43W

F

7

Control

EP32W

M

6

Control

JL-137/1362

M

14

Control

EP45W

M

10

Control

EP59W

M

6

Control

EP57W

M

7

Control

CT0009-003

M

8

Control

CT0011-003

M

4

Control

MK-311/1601

M

10

Control

EP39W

F

13

Control

EP42W

F

8

Control

KA-352/1734

M

7

Control

MM-119/1567

M

10

Control