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 18 0 0 0 0 0 0 0 0 0 0 0 14 0 0 0 0 0 4 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Non-symonymous Loss of function (LoF) Frameshift 5 0 0 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Nonsense 4 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Splice-site 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
Missense 6 0 0 0 0 0 0 0 0 0 0 0 5 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Stop-gain 4 0 0 0 0 0 0 0 0 0 0 0 2 0 0 0 0 0 2 0 0 0 0 0 0 0 0 0 0 0 0 0 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 2 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 1 0 0 0 0 0 0 0 0 0 0 0 0 0 0
Synonymous SNV 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
DNM hits non-coding regions All mutations 281 0 0 0 0 98 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 51 9 5 117 0
Intronic 41 0 0 0 0 17 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 10 1 0 13 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 239 0 0 0 0 81 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 0 0 0 0 0 40 8 5 104 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 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
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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