. 2015 Oct 13;5:14867. doi: 10.1038/srep14867

Table 2. Characteristics of the mutations.

Variation			Exon	Bioinformatics Analysis				Frequency in Controls
Nucleotide	Amino Acid	Status	Exon	SIFT	PolyPhen	CONDEL	PROVEN	Frequency in Controls
c.289G>C	p.Gly97Arg	Het	E1	Damaging	Benign	Deleterious	Deleterious	0/800
c.85G>A	p.Gly29Asp	-	E3	Damaging	PD	Deleterious	Deleterious	0/800

Abbreviations: Het: heterozygous; E: exon; PD: probably damaging.