Table 2.

Common variants (MAF ≥0.01) in the coding sequence of PTK7 gene detected in this study

Nucleotide change (NM_002821.3)	dbSNP ID	Amino acid change (NP_002812.2 )	MAF control/case	p value	gnomad MAF
c.1176C>T	rs56004029	p.His392His	0.018/0.023	0.814974135	0.01281
c.1228A>T	rs34021075	p.Thr410Ser	0.016/0.005	0.277069927	0.01218
c.1851G>A	rs6905948	p.Gly617Gly	0.374/0.382	0.88104387	0.3633
c.2235G>C	rs9472017	p.Glu745Asp	0.013/0.003	0.212242927	0.01155
c.2330C>T	rs34764696	p.Ala777Val	0.027/0.030	0.989891728	0.04793