Identification of a Novel Variant of PDGFC Associated with Nonsyndromic Cleft Lip and Palate in a Chinese Family

Table 1

The information of the variant on PDGFC in this NSCL/P family.

Chr	Gene	Mutation site	Mutation type	Minor allele frequency			Deleterious prediction scores			Human genetic disease databases
				1000G	ExAC	gnomAD	SIFT	Polyphen2_HDIV	MutationTaster	OMIM	HGMD
chr4	PDGFC	c.G93T:p.Q31H	Missense	0.001	0.005	0.005	0.216	0	1	—	CL/P

1000G: 1000 Genomes; ExAC: Exome Aggregation Consortium; gnomAD: Genome Aggregation Database; OMIM: Online Mendelian Inheritance in Man; HGMD: Human Gene Mutation Database.