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

From: Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

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     
  1. Mean age CHD8+/− 10.07 ± 4.325
  2. Mean age Control 10.29 ± 3.836
  3. CHD8+/− M, F 5, 2
  4. Control M, F 15, 6