| Genename | Variants |
|---|---|
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:375698G>A,c.910G>A,p.V304M |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:373809C>T,c.764C>T,p.S255L |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:373802C>T,c.757C>T,p.R253C |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:373516G>A,c.704G>A,p.R235Q |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:373515C>T,c.703C>T,p.R235W |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:373027C>T,c.446C>T,p.T149M |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:372671C>T,c.265C>T,p.R89W |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:372169A>G,c.212A>G,p.Q71R |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:372157C>T,c.200C>T,p.A67V |
| B4GALNT4(NM_178537,beta-1,4-N-acetyl-galactosaminyl transferase 4,1039aa) | g.11:372138G>A,c.181G>A,p.G61S |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:670598G>A,c.2978G>A,p.R993H |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:670595G>A,c.2975G>A,p.R992H |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:670591A>G,c.2971A>G,p.S991G |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:670543T>C,c.2923T>C,p.S975P |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:670520C>T,c.2900C>T,p.A967V |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:668553C>T,c.2854C>T,p.R952C |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:668551A>G,c.2852A>G,p.D951G |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:668484G>A,c.2785G>A,p.G929R |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:667726G>C,c.2660G>C,p.G887A |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:667192G>A,c.2545G>A,p.V849M |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:666923C>T,c.2530C>T,p.R844W |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:666917A>C,c.2524A>C,p.K842Q |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:666860G>A,c.2467G>A,p.V823I |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:665955G>A,c.2303G>A,p.R768Q |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:665823G>A,c.2171G>A,p.R724Q |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:665822C>T,c.2170C>T,p.R724W |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:665814G>A,c.2162G>A,p.R721H |
| B4GALNT3(NM_173593,beta-1,4-N-acetyl-galactosaminyl transferase 3,998aa) | g.12:665730G>A,c.2078G>A,p.R693H |