Table 1

Nonsynonymous SNVs and indels identified in patients but not in non-symptomatic family members
Gene Chr Nucleotide variation Amino acid variation Frequency in 1,000 genome dbSNP135
MED12L chr3 c.G3629A p.R1210Q 0.23 rs3732765
VEPH1 chr3 c.T1564C p.S522P 0.28 rs11918974
CWF19L2 chr11 c.A2681G p.Y894C 0.27 rs3758911
CEP164 chr11 c.G281A p.S94N 0.19 rs490262
OR6T1 chr11 c.G465C p.W155C 0.0046 rs150534954
OR8G5 chr11 c.G287A p.C96Y 0.45 rs2512168
OR8G5 chr11 c.G716A p.G239E 0.50 rs2512167
ROBO3 chr11 c.G1247A p.R416H 0.14 rs3862618
SKA3 chr13 c.A1157G p.K386R 0.13 rs11147976
SKA3 chr13 c.C1142T p.T381I 0.11 rs11147977
SKA3 chr13 c.G559A p.V187I 0.14 rs61950353
SKA3 chr13 c.208delC p.Q70fs - rs151272242
NECAB2 chr16 c.C704G p.T235S 0.20 rs2292324
DPEP1 chr16 c.G1051C p.E351Q 0.24 rs1126464
ACTG1 chr17 c.T914C p.M305T - -

Park et al.

Park et al. BMC Genomics 2013 14:191   doi:10.1186/1471-2164-14-191

Open Data