Variant type Phenotypes Total Case Control Others
AFND ALS A/M ADHD ASD BP CS CP CDH CHD DEE DD eoAD eoHM eoPD EE IS ID LGS MTLE-HS ASD or SCZ NTD OCD SCZ Sotos SISS TD Sibling non-PTB PTB Mh
De novo variants hit small genomic regions (DNMs) DNM hits protein coding regions All mutations 17 0 0 0 0 2 0 0 0 0 2 0 6 0 0 0 0 0 2 0 0 1 0 0 1 0 0 0 0 0 0 3 0
Non-symonymous Loss of function (LoF) Frameshift 6 0 0 0 0 1 0 0 0 0 2 0 3 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Nonsense 3 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0
Splice-site 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0
Missense 4 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 2 0 0 0 0 0 1 0 0 0 0 0 0 0 0
Stop-gain 3 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 1 0
Stop-loss 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Non-frameshit 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Synonymous SNV 1 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
DNM hits non-coding regions All mutations 113 0 0 0 0 37 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 20 1 1 54 0
Intronic 35 0 0 0 0 13 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 5 0 0 17 0
UTR region 2 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Up-/down-stream 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0
Intergenic 75 0 0 0 0 22 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 15 1 1 36 0
Non-coding RNA 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
De novo variants hit large genomic regions copy number variation (CNVs) Deletion 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Duplication 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.