Table 2. Variants found after Sanger sequencing of 3'UTR of APP in 90 patients with CAA.

			Controls				Patients with CAA
Variant nomenclature	dbSNP id	PhyloP score	Exome variant Server	1000 Genomes	Bettens et al.a	175 African controls (Sanger)	Count	AAO	APOE	Clinical summary	Family history	Interpretation
c.*18C>T	rs201729239	4.24	EA:0/4300 AA:1/2203 MAF: 0.0077%	1/297 (CS Agilent, Europe, WES)	0%	0	1/90	58	23	58 years: Ischemic stroke, and then one lobar ICH 63: lobar ICH MRI: WMH, numerous cortical and juxtacortical microbleeds	Negative	Unknown effect
c.*331_*332del	Unreported	c.*331: 4.00 c.*332: 2.38	Not covered	Unreported	Unreported	0	1/90	39	34	Focal SAH, then recurrent lobar ICH, cortical and juxtacortical microbleeds, WMH	Negative	Rare functional variant
c.*372A>G	rs187940037	1.66	Not covered	4/1094 MAF=0.2%	0.47%	0	2/90	73	34	Focal SAH, cortical and juxtacortical microbleeds, WMH	Negative	Probable rare polymorphism
								53	44	2 lobar ICH, cortical and juxtacortical microbleeds	Mother: ICH at age 83

Abbreviations: AAO, age at onset; ICH, lobar intracerebral hemorrhage; MAF, minor allele frequency; SAH, subarachnoid hemorrhage.

^a462 controls from Bettens et al.,⁸ frequency based on the actual number of successful sequences.