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Table 1 Coding variants identified in nuclear mitochondrial complex I genes. Het = heterozygotes

From: A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors

Gene Position in cDNA Number of het oncocytic Thyroid Number of het in EVSa Type of change PolyPhen-2 score (HumVar)
NDUFA12 c. 398–400 del_AGA (NM_018838.4) 1/45 21/6259 p.133del (Lys_Ile134insIle) ---
NDUFB1rs72691104 c. 242G > A (NM_004545.3) 1/45 1/4300 p.Arg81Gln 0.890
NDUFB6 c. 125A > T (NM_002493.4) 1/45 --- p.Glu8Val 0.852
  1. aEVS (http://evs.gs.washington.edu/EVS/) accession as by June, 26th 2014.
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BMC Cancer

ISSN: 1471-2407

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