. Author manuscript; available in PMC: 2016 Apr 1.

Published in final edited form as: J Hum Genet. 2015 Jul 2;60(10):637–640. doi: 10.1038/jhg.2015.69

Table 1.

WES results: SNVs identified in a Spanish family featuring late-onset PD and cognitive impairment

Chr	Position (bp)	Ref > mutant allele	Gene	Nucleotide change	Protein change	Pathogenecity's Prediction			Brain expression/ Conservation	ExAc browser	Associated disease
Chr	Position (bp)	Ref > mutant allele	Gene	Nucleotide change	Protein change	MutPred	PolyPhen	SIFT	Brain expression/ Conservation	ExAc browser	Associated disease
2	119915372	C>G	C1QL2	c.474G>C	p.Lys158Asn	0.480	Possibly damaging	Tolerated	No/Yes	11/35,424	None
2	216274821	C>T	FN1	c.1958G>A	p.Arg653His	0.578	Benign	Tolerated	High/Yes	2/61,050	GFND
2	233671326	A>G	GIGYF2	c.1828A>G	p.Arg610Gly	0.626	Probably Damaging	Deleterious	High/Yes	Not present	PD (AD)
6	151336773	G>T	MTHFD1L	c.2530G>T	p.Ala844Ser	0.531	Probably Damaging	Tolerated	High/No	1/66,696	LOAD and NTDs

GFND stands for glomerulopathy with fibronectin deposits, PD stands for Parkinson’s disease, LOAD stands for late-onset Alzheimer disease, NTDs stands for neural tube defects. The only mutation predicted to be pathogenic by three computational methods and not present in the ExAc browser is highlighted in bold. ExAc browser refers to the Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [04/2015]. The ExAC contains sequencing data of over 60,705 unrelated individuals of various disease-specific and population genetic studies. The ExAc data presented is the data identified in the European population.