| Genename | Variants |
|---|---|
| B4GALT5(NM_004776,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5,388aa) | g.20:48273174C>T,c.181G>A,p.G61S |
| B4GALT5(NM_004776,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5,388aa) | g.20:48252914C>T,c.1102G>A,p.D368N |
| B4GALT4(NM_212543,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4,344aa) | g.3:118945796G>C,c.346C>G,p.Q116E |
| B4GALT4(NM_212543,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4,344aa) | g.3:118945795T>C,c.347A>G,p.Q116R |
| B4GALT4(NM_212543,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4,344aa) | g.3:118945760C>T,c.382G>A,p.V128I |
| B4GALT4(NM_212543,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4,344aa) | g.3:118931431T>C,c.1000A>G,p.I334V |
| B4GALT4(NM_212543,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4,344aa) | g.3:118931401C>A,c.1030G>T,p.A344S |
| B4GALT3(NM_001199873,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3,393aa) | g.1:161145630A>G,c.221T>C,p.L74P |
| B4GALT3(NM_001199873,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3,393aa) | g.1:161143440T>C,c.758A>G,p.N253S |
| B4GALT3(NM_001199873,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3,393aa) | g.1:161141844G>A,c.944C>T,p.T315M |
| B4GALT3(NM_001199873,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3,393aa) | g.1:161141637_161141642del,c.1146_1151del,p.382_384del |
| B4GALT2(NM_003780,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2,372aa) | g.1:44456007C>T,c.1006C>T,p.R336W |
| B4GALT2(NM_003780,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2,372aa) | g.1:44447413G>C,c.366G>C,p.Q122H |
| B4GALT2(NM_003780,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2,372aa) | g.1:44447037C>T,c.205C>T,p.R69W |
| B4GALT1(NM_001497,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1,398aa) | g.9:33166939G>A,c.229C>T,p.L77F |
| B4GALT1(NM_001497,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1,398aa) | g.9:33135318C>T,c.517G>A,p.V173I |
| B4GALT1(NM_001497,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1,398aa) | g.9:33116056G>C,c.892C>G,p.L298V |
| B4GALT1(NM_001497,UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1,398aa) | g.9:33113459G>A,c.1190C>T,p.P397L |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:381754G>A,c.3082G>A,p.V1028I |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:380921del,c.2966del,p.989fs |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:379973G>A,c.2596G>A,p.E866K |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:379590A>G,c.2377A>G,p.S793G |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:377195T>C,c.2072T>C,p.V691A |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:376490G>A,c.1367G>A,p.R456K |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:376469C>A,c.1346C>A,p.P449H |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:376345C>T,c.1291C>T,p.P431S |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:376343A>G,c.1289A>G,p.N430S |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:376331T>A,c.1277T>A,p.F426Y |