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. Author manuscript; available in PMC: 2014 Dec 1.
Published in final edited form as: JAMA Ophthalmol. 2013 Dec 1;131(12):10.1001/jamaophthalmol.2013.4392. doi: 10.1001/jamaophthalmol.2013.4392

Table 1.

Exome sequence data (Pedigree OH)

OH III:3 OH III:4 OH IV:1
% Coverage at 10X 91 84 89.9
Total SNPs 18494 17115 18662
Novel SNPs 1302 1098 632
(+) pathogenic 921 725 471
(+) homozygous 60 120 42
(+) chromosome 19q13.12-19q13.2 3 2 3
(+) shared by other 2 affected 2 2 2