Table 3.

Genes harboring defects among index cases with abnormalities in G _i signaling and showing enriched annotation by functional annotation analysis

Patient ID	Gene	Nucleotide change	Amino acid change	Zygosity	Effect	dbSNP ID	1000 genomes MAF	EVS MAF
F3.1	P2RY12	c.365G>A	p.R122H	Heterozygous	Missense	Novel
F12.1		c.772C>A	p.P258T	Heterozygous	Missense	rs202099742	0.000077	No data
F7.1	PLCB3	c.130C>T	p.R44C	Heterozygous	Missense	Novel
F1.1	UNC13A	c.1032_1034delGGA	p.E344del	Heterozygous	Inframe deletion	Novel
F8.1		c.739G>A	p.E247K	Heterozygous	Missense	rs200805380	0.00024	No data
F8.1	VAV2	c.1998C>G	p.I666M	Heterozygous	Missense	rs144269361	0.0009	No data
F9.1	RGS19	c.650C>T	p.A217V	Heterozygous	Missense	Novel
F2.1	TLR2	c.2186A>G	p.N729S	Heterozygous	Missense	rs61735278	0.001	0.0005
F3.1	PTGIR	c.44T>C	p.V15A	Heterozygous	Splice defect	rs200213497	0.002035	No data
F5.1	PLA2G4C	c.410C>T	p.A137V	Heterozygous	Missense	rs11564532	0.001615	0.0009
F11.1		c.454G>T	p.V152F	Heterozygous	Missense	rs11564534	0.009918	0.0046
F3.1	ARHGEF12	c.989A>G	p.H330R	Heterozygous	Splice defect	rs187048571	0.000835	0.0011
F1.1	PTPRC	c.367G>C	p.D123H	Heterozygous	Splice defect	rs41269905	0.0085	0.01399
F8.1	ADCY6	c.358C>T	p.R120C	Heterozygous	Missense	rs55770045	0.01261	0.0109
F5.1	PDZD3	c.291G>A	p.A97=	Heterozygous	Splice defect	rs150917049	0.000385	No data
F7.1	PRKD1	c.1181G>A	p.R394K	Heterozygous	Splice defect	Novel

MAF, minor allele frequency; EVS, exome variant server.