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Table 3 Somatic variants in different tumors by whole-exome sequencing

From: Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing

Gene symbol Chr Nucleotide change Protein change Variant type Mutation type dbSNP135 1000G_2011 Oct_AF Variant allele frequencya
Parathyroid Left upper Parathyroid Left lower Parathyroid Right upper Pancreas Blood
KIF21B chr01 c.G1738C p.E580Q SNV nonsynonymous 0.45 0.00 0.00 0.00 0.00
SRCAP chr16 c.C4012T p.L1338F SNV nonsynonymous 0.38 0.00 0.00 0.00 0.00
GRK6 chr05 c.G241C p.V81 L SNV nonsynonymous 0.00 0.17 0.00 0.00 0.00
C9orf100 chr09 c.G806C p.S269 T SNV nonsynonymous 0.00 0.33 0.00 0.00 0.00
CILP2 chr19 c.C2173T p.R725C SNV nonsynonymous 0.00 0.50 0.00 0.00 0.00
CIR1 chr02 c.724_725insGA p.K242 fs Indel frameshift 0.00 0.56 0.00 0.00
CNGA1 chr04 c.316_317insG p.K106 fs Indel frameshift 0.00 0.00 0.83 0.00 0.00
ZNF429 chr19 c.A1978T p.R660X SNV stopgain 0.00 0.00 0.00 0.21 0.00
SCARF2 chr22 c.2239_2240insG p.P747fs Indel frameshift rs5844420 0.00 0.00 0.40 0.00
  1. aVariant allele frequency observed in exome sequencing