Table 2.

Pathogenic, rare structural variants in the LBD and FTD/ALS case-control cohorts

	Chr	Position	Type	Length (bp)	MAF cases	MAF controls	Overlapping regions	Patient characteristic
SNCA	4	89,123,177	duplication	1,347,138	0.00021	0	whole gene	pathologically diagnosed LBD
OPTN	10	12,982,796	deletion	314,105	0.00021	0	whole gene	pathologically diagnosed LBD
FIG4	6	109,822,689	deletion	8,753	0.00021	0	exon 23, 3′ UTR	non-fluent variant PPA
LRRK2	12	40,073,033	duplication	327,105	0.00021	0	whole gene	non-fluent variant PPA
CHCHD10	22	23,767,017	deletion	2,653	0.00021	0	promoter, exons 1–2	FTD (with motor neuron disease)

Chromosome positions are displayed according to reference genome build hg38. PPA, primary progressive aphasia.