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) |