| 基因名 | 突变 |
|---|---|
| GALNT3(NM_004482,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3),633aa) | g.2:166626832C>A,c.379G>T,p.A127S |
| GALNT3(NM_004482,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3),633aa) | g.2:166611229C>T,c.1534G>A,p.V512I |
| GALNT3(NM_004482,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3),633aa) | g.2:166606373C>T,c.1658G>A,p.R553Q |
| GALNT3(NM_004482,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3),633aa) | g.2:166606326C>T,c.1705G>A,p.V569I |
| GALNT3(NM_004482,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3),633aa) | g.2:166605365C>T,c.1828G>A,p.G610R |
| GALNT2(NM_004481,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2),571aa) | g.1:230415148G>A,c.1660G>A,p.V554M |
| GALNT2(NM_004481,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2),571aa) | g.1:230415116G>A,c.1628G>A,p.R543H |
| GALNT2(NM_004481,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2),571aa) | g.1:230415088G>A,c.1600G>A,p.V534M |
| GALNT2(NM_004481,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2),571aa) | g.1:230390978G>A,c.1024G>A,p.V342M |
| GALNT2(NM_004481,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2),571aa) | g.1:230386238A>C,c.941A>C,p.D314A |
| GALNT2(NM_004481,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2),571aa) | g.1:230385007G>A,c.895G>A,p.A299T |
| GALNT2(NM_004481,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2),571aa) | g.1:230371780G>A,c.395G>A,p.R132Q |
| GALNT1(NM_020474,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1),559aa) | g.18:33289676A>G,c.1622A>G,p.N541S |
| GALNT1(NM_020474,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1),559aa) | g.18:33282877C>T,c.1316C>T,p.T439M |
| GALNT1(NM_020474,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1),559aa) | g.18:33263519G>A,c.646G>A,p.V216M |
| GALNT1(NM_020474,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1),559aa) | g.18:33234763A>G,c.137A>G,p.D46G |
| GALNT1(NM_020474,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1),559aa) | g.18:33234684T>G,c.58T>G,p.L20V |
| GALNT18(NM_198516,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18,607aa) | g.11:11470451C>T,c.268G>A,p.E90K |
| GALNT18(NM_198516,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18,607aa) | g.11:11454291T>C,c.472A>G,p.I158V |
| GALNT18(NM_198516,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18,607aa) | g.11:11454276C>T,c.487G>A,p.V163I |
| GALNT18(NM_198516,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18,607aa) | g.11:11400788C>T,c.619G>A,p.E207K |
| GALNT18(NM_198516,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18,607aa) | g.11:11400647C>T,c.760G>A,p.V254M |
| GALNT18(NM_198516,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18,607aa) | g.11:11362458C>T,c.1186G>A,p.A396T |
| GALNT18(NM_198516,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18,607aa) | g.11:11292780C>T,c.1735G>A,p.D579N |
| GALNT18(NM_198516,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18,607aa) | g.11:11292768C>T,c.1747G>A,p.G583S |
| GALNT18(NM_198516,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18,607aa) | g.11:11292698G>A,c.1817C>T,p.A606V |
| GALNT16(NM_001168368,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16,558aa) | g.14:69813848C>T,c.1363C>T,p.L455F |
| GALNT16(NM_001168368,UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16,558aa) | g.14:69813776C>T,c.1291C>T,p.L431F |