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Table 3 Functional annotation of all homozygous nsSNP

From: An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation

Gene groups

Genes

nsSNPs

Most common proteins

#

%

#

%

(#proteins, #nsSNPs)

Genes with known functions

268

47%

340

43%

Transcriptional regulator proteins (15 proteins, 17 nsSNPs), Keratin-associated proteins (6 proteins, 9 nsSNPs)

Genes with putative functions

118

20%

167

21%

Potential odorant receptors (21 proteins, 27 nsSNPs), Zinc finger-containing proteins, potentially for transcriptional regulations (16 proteins, 22 nsSNPs)

Genes with unknown functions

189

33%

290

36%

-

Total

575

100%

797

100%

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