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

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

Gene	Chr	Chr_start	Ref_base	Alt_base	Nucleotide change	Protein change	Mutation type	dbSNP135	1000G_2011 Oct_AF^a	KRB_AF(622)^b
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

^aAllele frequencies for each variant were estimated based on phase 1 genotypes from the 1000 Genomes project
^bKorean control exome dataset, which includes exome data for 622 Koreans

ISSN: 1471-2350