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 72 0 0 0 0 9 0 0 0 0 3 1 44 0 0 0 2 0 7 0 0 0 0 0 3 0 0 0 1 0 0 2 0
Non-symonymous Loss of function (LoF) Frameshift 48 0 0 0 0 6 0 0 0 0 1 0 34 0 0 0 1 0 6 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Nonsense 11 0 0 0 0 1 0 0 0 0 0 1 6 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0
Splice-site 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
Missense 6 0 0 0 0 1 0 0 0 0 1 0 1 0 0 0 0 0 1 0 0 0 0 0 2 0 0 0 0 0 0 0 0
Stop-gain 11 0 0 0 0 1 0 0 0 0 0 1 6 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 2 0
Stop-loss 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
Non-frameshit 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
Synonymous SNV 6 0 0 0 0 1 0 0 0 0 1 0 2 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 1 0 0 0 0
DNM hits non-coding regions All mutations 125 0 0 0 0 47 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 41 1 4 31 0
Intronic 91 0 0 0 0 28 0 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 35 0 3 24 0
UTR region 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 1 0 0 0 0
Up-/down-stream 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
Intergenic 33 0 0 0 0 19 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 5 1 1 7 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 1 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 0 0 0 0
Duplication 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

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