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Table 2 Germline mutation in the multiple endocrine neoplasia type1 (MEN1) gene identified by whole-exome sequencing and confirmed

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

Gene Chr Chr_start Ref_base Alt_base Nucleotide change Protein change Mutation type dbSNP135 1000G_2011
MEN1 chr11 64,572,018 A G c.A1621G p.T541A nonsynonymous_SNV rs2959656 0.85 0.75
MEN1 chr11 64,572,256 AG c.1382_1383delAG p.E461GfsX69 frameshift_deletion Novel
MEN1 chr11 64,572,557 T C c.T1299C p.H433H synonymous_SNV rs540012 0.98 1
MEN1 chr11 64,572,602 C T c.C1254T p.D418D synonymous_SNV rs2071313 0.31 0.39
  1. aAllele frequencies for each variant were estimated based on phase 1 genotypes from the 1000 Genomes project
  2. bKorean control exome dataset, which includes exome data for 622 Koreans