| Genename | Variants |
|---|---|
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47210506C>A,c.119C>A,p.A40D |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47210488G>C,c.101G>C,p.G34A |
| B4GALNT2(NM_153446,beta-1,4-N-acetyl-galactosaminyl transferase 2,566aa) | g.17:47210469G>A,c.82G>A,p.E28K |
| B4GALNT1(NM_001478,beta-1,4-N-acetyl-galactosaminyl transferase 1,533aa) | g.12:58025813G>C,c.103C>G,p.L35V |
| B4GALNT1(NM_001478,beta-1,4-N-acetyl-galactosaminyl transferase 1,533aa) | g.12:58025112C>A,c.254G>T,p.S85I |
| B4GALNT1(NM_001478,beta-1,4-N-acetyl-galactosaminyl transferase 1,533aa) | g.12:58024986G>A,c.380C>T,p.S127L |
| B4GALNT1(NM_001478,beta-1,4-N-acetyl-galactosaminyl transferase 1,533aa) | g.12:58024278C>G,c.514G>C,p.G172R |
| B4GALNT1(NM_001478,beta-1,4-N-acetyl-galactosaminyl transferase 1,533aa) | g.12:58022914T>C,c.728A>G,p.E243G |
| B4GALNT1(NM_001478,beta-1,4-N-acetyl-galactosaminyl transferase 1,533aa) | g.12:58022888G>A,c.754C>T,p.R252C |
| B4GALNT1(NM_001478,beta-1,4-N-acetyl-galactosaminyl transferase 1,533aa) | g.12:58022875G>A,c.767C>T,p.P256L |
| B4GALNT1(NM_001478,beta-1,4-N-acetyl-galactosaminyl transferase 1,533aa) | g.12:58022849C>T,c.793G>A,p.G265R |
| B4GALNT1(NM_001478,beta-1,4-N-acetyl-galactosaminyl transferase 1,533aa) | g.12:58022618C>T,c.880G>A,p.A294T |
| B4GALNT1(NM_001478,beta-1,4-N-acetyl-galactosaminyl transferase 1,533aa) | g.12:58022540C>T,c.958G>A,p.V320I |
| B4GALNT1(NM_001478,beta-1,4-N-acetyl-galactosaminyl transferase 1,533aa) | g.12:58020582G>A,c.1547C>T,p.A516V |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:81009636T>G,c.37A>C,p.S13R |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:80992973C>T,c.280G>A,p.G94R |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:80963044C>T,c.451G>A,p.E151K |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:80923546G>A,c.581C>T,p.P194L |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:80919027C>T,c.631G>A,p.E211K |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:80918997G>A,c.661C>T,p.R221C |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:80918994C>T,c.664G>A,p.V222M |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:80918954G>A,c.704C>T,p.A235V |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:80915321G>A,c.775C>T,p.P259S |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:80915239C>T,c.857G>A,p.R286H |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:80915127T>G,c.862-2A>C,p.288Acceptor |
| B3GNTL1(NM_001009905,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1,361aa) | g.17:80904844C>T,c.1021G>A,p.A341T |
| B3GNT9(NM_033309,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9,402aa) | g.16:67183962C>T,c.427G>A,p.G143S |
| B3GNT9(NM_033309,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9,402aa) | g.16:67183379C>T,c.1010G>A,p.R337H |