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Table 2 Overlapping NCOR1 and MAP2K3 variants across 10 subjects with VSD and TOF positioned on chromosome 17

From: Whole-exome sequencing and homozygosity mapping identify variants in NCOR1 and MAP2K3 associated with non-syndromic congenital heart defects

Gene Chromosome position Variant type Exon number DNA level changes Protein level changes No. of cases Rs Id SIFT/polyphen/mutation taster
NCOR1 17:16068377-16068377 Nonsynonymous SNV 2 c.[G207C] p.K69N 8 (5 VSDs and 3 TOFs) rs200020868 D/D/D
17:16068340-16068340 2 c.[G244A] p.E82K 10 (7 VSDs and 3 TOFs) rs76780359 D/P/D
17:16068343-16068343 2 c.[C241T] P.R81X 10 (7 VSDs and 3 TOFs) rs78230791 D/-/D
MAP2K3 17:21204187-21204187 5 c.[G194T] P.R65L 10 (7 VSDs and 3 TOFs) rs56067280 D/D/P
17:21204192-21204192 5 c.[C199T] p.R67W 10 (7 VSDs and 3 TOFs) rs56216806 D/D/D
17:21207834-21207834 8 c.[C578T] p.T193M 5 (4 VSDs and 1 TOF) rs58609466 D/D/D
  1. The read depth (DP) of all variants is more than 100; as a result, there is no false positive in variant reports
  2. D damaging, P probably damaging