| Genename | Variants |
|---|---|
| B3GNT8(NM_198540,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8,397aa) | g.19:41932602C>T,c.82G>A,p.E28K |
| B3GNT8(NM_198540,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8,397aa) | g.19:41932596G>A,c.88C>T,p.R30W |
| B3GNT8(NM_198540,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8,397aa) | g.19:41932595C>A,c.89G>T,p.R30L |
| B3GNT8(NM_198540,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8,397aa) | g.19:41932374C>T,c.310G>A,p.E104K |
| B3GNT8(NM_198540,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8,397aa) | g.19:41932275T>C,c.409A>G,p.S137G |
| B3GNT8(NM_198540,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8,397aa) | g.19:41932127G>A,c.557C>T,p.S186F |
| B3GNT8(NM_198540,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8,397aa) | g.19:41931765C>T,c.919G>A,p.G307R |
| B3GNT8(NM_198540,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8,397aa) | g.19:41931707C>T,c.977G>A,p.R326H |
| B3GNT8(NM_198540,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8,397aa) | g.19:41931659C>T,c.1025G>A,p.R342Q |
| B3GNT8(NM_198540,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8,397aa) | g.19:41931502C>G,c.1182G>C,p.R394S |
| B3GNT7(NM_145236,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7,401aa) | g.2:232263284_232263285insG,c.854_855insG,p.285fs |
| B3GNT7(NM_145236,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7,401aa) | g.2:232263127G>A,c.697G>A,p.V233I |
| B3GNT7(NM_145236,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7,401aa) | g.2:232262920G>A,c.490G>A,p.A164T |
| B3GNT7(NM_145236,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7,401aa) | g.2:232262645C>T,c.215C>T,p.T72M |
| B3GNT7(NM_145236,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7,401aa) | g.2:232262641C>T,c.211C>T,p.P71S |
| B3GNT7(NM_145236,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7,401aa) | g.2:232262494G>A,c.64G>A,p.V22M |
| B3GNT5(NM_032047,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5,378aa) | g.3:182988686A>C,c.1100A>C,p.Y367S |
| B3GNT5(NM_032047,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5,378aa) | g.3:182988642A>G,c.1056A>G,p.I352M |
| B3GNT5(NM_032047,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5,378aa) | g.3:182988199G>A,c.613G>A,p.E205K |
| B3GNT5(NM_032047,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5,378aa) | g.3:182987892T>A,c.306T>A,p.D102E |
| B3GNT5(NM_032047,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5,378aa) | g.3:182987792C>T,c.206C>T,p.A69V |
| B3GNT5(NM_032047,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5,378aa) | g.3:182987591G>A,c.5G>A,p.R2K |
| B3GNT4(NM_030765,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4,378aa) | g.12:122691847G>A,c.1049G>A,p.R350H |
| B3GNT4(NM_030765,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4,378aa) | g.12:122691676C>A,c.878C>A,p.A293D |
| B3GNT4(NM_030765,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4,378aa) | g.12:122691667G>A,c.869G>A,p.R290H |
| B3GNT4(NM_030765,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4,378aa) | g.12:122691541G>A,c.743G>A,p.R248H |
| B3GNT4(NM_030765,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4,378aa) | g.12:122691360_122691362del,c.562_564del,p.188del |
| B3GNT4(NM_030765,UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4,378aa) | g.12:122691249C>T,c.451C>T,p.R151W |