A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene

Table 2 Exonic nonsynonymous variants identified by NGS target sequecing

Chr	Start	End	Ref	Alt	dbSNP	Otherinfo	Func.refgene	Gene.refgene	ExonicFunc.refgene	AAChange.refgene	1000G_ALL	1000G_AFR	1000G_AMR	1000G_EAS	1000G_EUR	1000G_SAS	In silico/db prediction
chr12	20522252	20522252	G	A	rs12305038		exonic	PDE3A	nonsyn SNV	PDE3A:NM_000921: exon1:c.G34A:p.D12N	0.33	0.51	0.22	0.31	0.31	0.24	Benign
chr20	57244396	57244396	G	A	rs41276950		exonic	STX16	nonsyn SNV	STX16:NM_001134772: exon4:c.G431A:p.R144Q NM_003763: exon4:c.G380A:p.R127Q	0.014	0.0023	0.016		0.054	0.0041	Benign
chr20	57470693	57470693	A	T		het	exonic	GNAS	nonsyn SNV	GNAS:NM_001077488: exon2:c.A166T:p.I56F							Novel:pathogenetic

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