| Genename | Variants |
|---|---|
| B3GALTL(NM_194318,beta 1,3-galactosyltransferase-like,498aa) | g.13:31891746G>A,c.1108G>A,p.E370K |
| B3GALTL(NM_194318,beta 1,3-galactosyltransferase-like,498aa) | g.13:31891743G>A,c.1105G>A,p.G369S |
| B3GALTL(NM_194318,beta 1,3-galactosyltransferase-like,498aa) | g.13:31860902G>A,c.1010G>A,p.R337H |
| B3GALTL(NM_194318,beta 1,3-galactosyltransferase-like,498aa) | g.13:31858836A>T,c.902A>T,p.Y301F |
| B3GALTL(NM_194318,beta 1,3-galactosyltransferase-like,498aa) | g.13:31848718G>A,c.733G>A,p.V245M |
| B3GALTL(NM_194318,beta 1,3-galactosyltransferase-like,498aa) | g.13:31848673G>A,c.688G>A,p.G230R |
| B3GALTL(NM_194318,beta 1,3-galactosyltransferase-like,498aa) | g.13:31843415G>A,c.660+1G>A,p.220Donor |
| B3GALTL(NM_194318,beta 1,3-galactosyltransferase-like,498aa) | g.13:31822094C>A,c.450C>A,p.D150E |
| B3GALT6(NM_080605,UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6,329aa) | g.1:1168553C>A,c.895C>A,p.L299M |
| B3GALT6(NM_080605,UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6,329aa) | g.1:1168180G>C,c.522G>C,p.E174D |
| B3GALT6(NM_080605,UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6,329aa) | g.1:1168067C>G,c.409C>G,p.L137V |
| B3GALT5(NM_033171,UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5,310aa) | g.21:41033345A>G,c.859A>G,p.I287V |
| B3GALT5(NM_033171,UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5,310aa) | g.21:41033333G>A,c.847G>A,p.A283T |
| B3GALT5(NM_033171,UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5,310aa) | g.21:41032740T>C,c.254T>C,p.M85T |
| B3GALT5(NM_033171,UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5,310aa) | g.21:41032664G>A,c.178G>A,p.V60I |
| B3GALT4(NM_003782,UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4,378aa) | g.6:33245441A>C,c.245A>C,p.E82A |
| B3GALT2(NM_003783,UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2,422aa) | g.1:193150431G>C,c.262C>G,p.P88A |
| B3GALT1(NM_020981,UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1,326aa) | g.2:168725872_168725873insG,c.323_324insG,p.108fs |
| B3GALT1(NM_020981,UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1,326aa) | g.2:168725680C>T,c.131C>T,p.A44V |
| B3GALNT2(NM_152490,beta-1,3-N-acetylgalactosaminyltransferase 2,500aa) | g.1:235652575T>C,c.261-2A>G,p.87Acceptor |
| B3GALNT2(NM_152490,beta-1,3-N-acetylgalactosaminyltransferase 2,500aa) | g.1:235647783G>A,c.410C>T,p.S137L |
| B3GALNT2(NM_152490,beta-1,3-N-acetylgalactosaminyltransferase 2,500aa) | g.1:235643446C>T,c.575G>A,p.R192H |
| B3GALNT2(NM_152490,beta-1,3-N-acetylgalactosaminyltransferase 2,500aa) | g.1:235621977A>G,c.959T>C,p.I320T |
| B3GALNT2(NM_152490,beta-1,3-N-acetylgalactosaminyltransferase 2,500aa) | g.1:235613538G>A,c.1486C>T,p.R496X |
| B3GALNT1(NM_001038628,beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group),331aa) | g.3:160804167C>T,c.376G>A,p.D126N |
| B3GALNT1(NM_001038628,beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group),331aa) | g.3:160803732C>T,c.811G>A,p.G271R |
| B3GALNT1(NM_001038628,beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group),331aa) | g.3:160803633G>A,c.910C>T,p.R304C |
| AZU1(NM_001700,azurocidin 1,251aa) | g.19:831816del,c.695del,p.232fs |