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. 2013 Feb;23(1):89–94.

Table 4.

Genotypes in CLCNKB gene from the patient's family (compared to Genebank accession NG_013079.1)

Reported SNPs Other nucleotide variations or new SNPS
Patient rs2015352 (exon 2), rs5257 (exon 4), rs2014562(exon 5), rs71493533(exon 8), rs5253, rs5254, rs2275166 and rs2275167 (exon 16), rs79198735 (exon 19), rs112496366, rs1057839, rs79768787 and rs1057854 (exon 20). a homozygous C to T (gcg to gtg) transition at nucleotide 996(exon 9), homozygous T to C (tgt to tgc; synonymous mutation) transition at nucleotide 1012 (exon 10), heterozygous T to C (ggt to ggc; synonymous mutation) transition at nucleotide 1759, heterozygous GC to AT (cgc to cat) transition at nucleotides 1767-8, and homozygous A to G (aag to gag) transition at nucleotide 1868 (exon 16), homozygous C to A (cac to caa) transition at nucleotide 2071, homozygous G to A (gag to aag) transition at nucleotide 2081, a homozygous T to G (cat to cag) transition at nucleotide 2098 and a homozygous G to A (acg to aca; synonymous mutation) transition at nucleotide 2113(exon 19)
Mother Same as above Same as above
Father Same as above Same as above