Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations

Table 1 Variant filtering of whole genome sequencing (WGS) reads

	Family A		Family B
ID	A-II-2	A-II-6	B-III-2	B-III-6
Phenotype	PD	PD	PD	PD
Mean depth of coverage	31.30	31.66	29.65	33.11
Exonic or splicing variants	20,330	20,417	20,594	20,680
Frequency < 0.0001	245	260	286	244
Consensus variants of each families	89		85
Consensus variants of all subjects	13

The variants detected in WGS were filtered using our criteria: (1) located in exons or splicing sites; (2) frequencies from variant databases (ExAC, Exome Variant Server, and HGVD) less than 0.0001. Consensus variants were selected regardless of zygosity

ISSN: 2051-5960