Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

Table 3 Case unique loss-of-function variants selected for Sanger validation

Position	Gene	Coding nucleotide	Amino acid
chr1:146737632	CH1DL	c.C169T	p.R57X
chr2:32434592	SLC30A6	c.C625T	p.R209X
chr3:154139052	GPR149	c.C1399T	p.Q467X
chr4:187517886	FAT1 ^a	c.C481T	p.R161X
chr5:75866423	IQGAP2	c.C322T	p.R108X
chr5:108294935	FER ^a	c.C1018T	p.R340X
chr5:148407104	SH3TC2	c.G832T	p.E278X
chr6:46988468	GPR110	c.C610T	p.R204X
chr6:102483442	GRIK2 ^a	splice	splice
chr6:116288798	FRK ^a	c.C715T	p.R239X
chr6:152690106	SYNE1 ^a	splice	splice
chr10:34400099	PARD3	splice	splice
chr10:129183056	DOCK1	c.G3747A	p.W1249X
chr13:109859019	MYO16 ^a	c.G5478A	p.W1826X
chr15:58004192	GCOM1	c.C1315T	p.R439X
chr16:7637291	RBFOX1 ^a	c.C517T	p.R173X
chr22:17588636	IL17RA	c.C1065G	p.Y355X

Rare loss-of-function variants in genes with presumed neuronal genes were subjected to Sanger validation and familial segregation testing. Coordinates are based on the hg19 human genome reference build
^aGene is a potential ASD candidate gene in the SFARI Gene Database (https://gene.sfari.org/autdb/)

ISSN: 2040-2392