| Genename | Variants |
|---|---|
| C1orf106(NM_001142569,chromosome 1 open reading frame 106,578aa) | g.1:200867572T>A,c.44T>A,p.I15N |
| C1orf105(NM_139240,chromosome 1 open reading frame 105,183aa) | g.1:172437592G>A,c.410G>A,p.S137N |
| C1orf105(NM_139240,chromosome 1 open reading frame 105,183aa) | g.1:172431386G>A,c.341+1G>A,p.114Donor |
| C1orf105(NM_139240,chromosome 1 open reading frame 105,183aa) | g.1:172431333A>G,c.289A>G,p.M97V |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244803310G>A,c.2783G>A,p.R928Q |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244769025G>A,c.2332G>A,p.V778I |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244769014A>G,c.2321A>G,p.Y774C |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244755023G>A,c.2179G>A,p.V727M |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244745107T>C,c.1960T>C,p.F654L |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244735674T>A,c.1550T>A,p.I517K |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244724277C>T,c.1337C>T,p.T446I |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244724264A>G,c.1324A>G,p.I442V |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244723989C>A,c.1049C>A,p.T350N |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244723986G>A,c.1046G>A,p.S349N |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244681973A>G,c.509A>G,p.Y170C |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244641251G>A,c.232G>A,p.A78T |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244641216C>A,c.197C>A,p.T66K |
| C1orf101(NM_001130957,chromosome 1 open reading frame 101,951aa) | g.1:244627236G>A,c.92G>A,p.R31H |
| C1orf100(NM_001012970,chromosome 1 open reading frame 100,147aa) | g.1:244541827G>C,c.211G>C,p.D71H |
| C1orf100(NM_001012970,chromosome 1 open reading frame 100,147aa) | g.1:244541773C>T,c.157C>T,p.L53F |
| C1orf100(NM_001012970,chromosome 1 open reading frame 100,147aa) | g.1:244528037G>A,c.35G>A,p.R12H |
| C1orf100(NM_001012970,chromosome 1 open reading frame 100,147aa) | g.1:244528016G>A,c.14G>A,p.R5Q |
| C1GALT1(NM_020156,core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1,363aa) | g.7:7278506C>T,c.841C>T,p.P281S |
| C1GALT1(NM_020156,core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1,363aa) | g.7:7278447T>A,c.782T>A,p.I261N |
| C1GALT1C1(NM_152692,C1GALT1-specific chaperone 1,318aa) | g.X:119760952T>C,c.70A>G,p.M24V |
| C1GALT1C1(NM_152692,C1GALT1-specific chaperone 1,318aa) | g.X:119760720C>T,c.302G>A,p.S101N |
| C1GALT1C1(NM_152692,C1GALT1-specific chaperone 1,318aa) | g.X:119760629A>T,c.393T>A,p.D131E |
| C1GALT1C1(NM_152692,C1GALT1-specific chaperone 1,318aa) | g.X:119760594G>A,c.428C>T,p.A143V |