| Genename | Variants |
|---|---|
| COLQ(NM_080538,collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase,445aa) | g.3:15497520G>A,c.1051C>T,p.P351S |
| COLQ(NM_080538,collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase,445aa) | g.3:15497493C>T,c.1078G>A,p.D360N |
| COLQ(NM_080538,collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase,445aa) | g.3:15497484C>T,c.1087G>A,p.G363S |
| COLQ(NM_080538,collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase,445aa) | g.3:15495429C>T,c.1175G>A,p.R392H |
| COLGALT2(NM_015101,collagen beta(1-O)galactosyltransferase 2,626aa) | g.1:184006380C>T,c.112G>A,p.D38N |
| COLGALT2(NM_015101,collagen beta(1-O)galactosyltransferase 2,626aa) | g.1:184006377C>T,c.115G>A,p.G39R |
| COLGALT2(NM_015101,collagen beta(1-O)galactosyltransferase 2,626aa) | g.1:184006362C>G,c.130G>C,p.V44L |
| COLGALT2(NM_015101,collagen beta(1-O)galactosyltransferase 2,626aa) | g.1:183942838A>G,c.539T>C,p.L180P |
| COLGALT2(NM_015101,collagen beta(1-O)galactosyltransferase 2,626aa) | g.1:183938600T>C,c.635A>G,p.Y212C |
| COLGALT2(NM_015101,collagen beta(1-O)galactosyltransferase 2,626aa) | g.1:183938480G>A,c.755C>T,p.T252I |
| COLGALT2(NM_015101,collagen beta(1-O)galactosyltransferase 2,626aa) | g.1:183920208C>T,c.1069G>A,p.D357N |
| COLGALT2(NM_015101,collagen beta(1-O)galactosyltransferase 2,626aa) | g.1:183920187A>G,c.1090T>C,p.Y364H |
| COLGALT2(NM_015101,collagen beta(1-O)galactosyltransferase 2,626aa) | g.1:183914681T>A,c.1154A>T,p.Q385L |
| COLGALT2(NM_015101,collagen beta(1-O)galactosyltransferase 2,626aa) | g.1:183914577C>T,c.1258G>A,p.V420I |
| COLGALT2(NM_015101,collagen beta(1-O)galactosyltransferase 2,626aa) | g.1:183909818C>T,c.1501G>A,p.V501I |
| COLGALT1(NM_024656,collagen beta(1-O)galactosyltransferase 1,622aa) | g.19:17692240G>A,c.1856G>A,p.R619Q |
| COLGALT1(NM_024656,collagen beta(1-O)galactosyltransferase 1,622aa) | g.19:17692098G>A,c.1714G>A,p.E572K |
| COLGALT1(NM_024656,collagen beta(1-O)galactosyltransferase 1,622aa) | g.19:17691632C>T,c.1519C>T,p.R507C |
| COLGALT1(NM_024656,collagen beta(1-O)galactosyltransferase 1,622aa) | g.19:17671248C>G,c.463C>G,p.R155G |
| COLGALT1(NM_024656,collagen beta(1-O)galactosyltransferase 1,622aa) | g.19:17670163C>T,c.304C>T,p.R102W |
| COLGALT1(NM_024656,collagen beta(1-O)galactosyltransferase 1,622aa) | g.19:17670154A>G,c.295A>G,p.T99A |
| COLEC12(NM_130386,collectin sub-family member 12,742aa) | g.18:357487T>C,c.94A>G,p.N32D |
| COLEC12(NM_130386,collectin sub-family member 12,742aa) | g.18:357443C>G,c.138G>C,p.L46F |
| COLEC12(NM_130386,collectin sub-family member 12,742aa) | g.18:347218G>A,c.404C>T,p.T135M |
| COLEC12(NM_130386,collectin sub-family member 12,742aa) | g.18:347200G>A,c.422C>T,p.A141V |
| COLEC12(NM_130386,collectin sub-family member 12,742aa) | g.18:347128G>T,c.494C>A,p.T165N |
| COLEC12(NM_130386,collectin sub-family member 12,742aa) | g.18:346949G>A,c.673C>T,p.R225W |
| COLEC12(NM_130386,collectin sub-family member 12,742aa) | g.18:346700C>T,c.922G>A,p.E308K |