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. Author manuscript; available in PMC: 2016 Jun 23.
Published in final edited form as: J Inherit Metab Dis. 2015 Mar 3;38(5):941–948. doi: 10.1007/s10545-015-9824-x

Table 3.

Variants of potential interest then filtered based on mode of inheritance

Gene Novel/known
disease gene		 Variant Genotype SIFT PolyPhen 1000 Genome
frequency		 ESP frequency
COX10 Known c.1193 G>A, R398H Heterozygous Damaging Damaging N/A 0.02 %
GPT2 Novel c.459 C>G, S153R Homozygous Damaging Damaging N/A N/A