| 基因名 | 突变 |
|---|---|
| GALNT16(NM_001168368,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16,558aa) | g.14:69805448C>T,c.1048C>T,p.R350W |
| GALNT16(NM_001168368,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16,558aa) | g.14:69795199G>A,c.601G>A,p.V201M |
| GALNT16(NM_001168368,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16,558aa) | g.14:69792727G>A,c.551G>A,p.R184H |
| GALNT16(NM_001168368,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16,558aa) | g.14:69792086A>G,c.467A>G,p.Q156R |
| GALNT16(NM_001168368,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16,558aa) | g.14:69791444C>T,c.371C>T,p.A124V |
| GALNT16(NM_001168368,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16,558aa) | g.14:69791432C>T,c.359C>T,p.S120L |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16264138G>C,c.1646G>C,p.S549T |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16261420C>T,c.1528C>T,p.H510Y |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16254172G>A,c.1294G>A,p.A432T |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16254129C>A,c.1251C>A,p.H417Q |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16250068C>G,c.970C>G,p.P324A |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16237418G>A,c.691G>A,p.D231N |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16217188G>A,c.530G>A,p.R177Q |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16217110C>T,c.452C>T,p.P151L |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16217067G>A,c.409G>A,p.A137T |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16216861T>G,c.203T>G,p.V68G |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16216801del,c.143del,p.48fs |
| GALNT15(NM_054110,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15,639aa) | g.3:16216680A>G,c.22A>G,p.R8G |
| GALNT14(NM_001253826,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14),557aa) | g.2:31360928C>G,c.25G>C,p.V9L |
| GALNT14(NM_001253826,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14),557aa) | g.2:31348076G>A,c.173C>T,p.A58V |
| GALNT14(NM_001253826,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14),557aa) | g.2:31181310G>A,c.434C>T,p.T145M |
| GALNT14(NM_001253826,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14),557aa) | g.2:31178841C>T,c.484G>A,p.D162N |
| GALNT14(NM_001253826,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14),557aa) | g.2:31167749G>A,c.817C>T,p.R273C |
| GALNT14(NM_001253826,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14),557aa) | g.2:31155034C>T,c.973G>A,p.G325R |
| GALNT14(NM_001253826,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14),557aa) | g.2:31155016C>T,c.991G>A,p.V331I |
| GALNT14(NM_001253826,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14),557aa) | g.2:31147103T>C,c.1277A>G,p.K426R |
| GALNT14(NM_001253826,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14),557aa) | g.2:31135184G>T,c.1420C>A,p.Q474K |
| GALNT14(NM_001253826,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14),557aa) | g.2:31133856C>T,c.1585G>A,p.G529S |