Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder

Table 1 Summary of variants found at sites of increased evolutionary conservation

Functional class	Position (hg18)	Variant type	PhastCons	PhyloP	Frequency in ASD cases	Frequency in NIMH control samples
3’UTR	5818136	SNV	1	2.19	1/144	0/1440
3’UTR	5820149-50	Indel	1	0.85/1.76	1/144	ND
Intron	70284973	SNV	1	1.99	1/144	1/1416
Intron	70285256	SNV	0.98	0.90	1/144	0/1441
Intron	70288838	SNV	0.69	1.03	1/144	2/1441
Intron	70291656	SNV	1	2.52	1/144	0/1440
3’UTR	70306922	SNV	0.73	−0.47	1/144	0/1440

ASD, autism spectrum disorder; NIMH, National Institute of Mental Health; ND, Not Determined.

ISSN: 2040-2392