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