Table 2.
Demographic and variant information for CHD8+/− training signature cases and age-, sex-matched controls
| Sample ID | Sex | Age (years) | ASD status | Nucleotide change | Amino acid change | Exon | Inheritance |
|---|---|---|---|---|---|---|---|
| 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 |
Mean age CHD8+/− 10.07 ± 4.325
Mean age Control 10.29 ± 3.836
CHD8+/− M, F 5, 2
Control M, F 15, 6