| 基因名 | 突变 |
|---|---|
| CHST2(NM_004267,carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2,530aa) | g.3:142840775G>A,c.1117G>A,p.G373S |
| CHST2(NM_004267,carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2,530aa) | g.3:142840524C>T,c.866C>T,p.A289V |
| CHST2(NM_004267,carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2,530aa) | g.3:142840518G>T,c.860G>T,p.R287L |
| CHST2(NM_004267,carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2,530aa) | g.3:142839977G>A,c.319G>A,p.G107R |
| CHST2(NM_004267,carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2,530aa) | g.3:142839918A>G,c.260A>G,p.N87S |
| CHST2(NM_004267,carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2,530aa) | g.3:142839723C>T,c.65C>T,p.P22L |
| CHST1(NM_003654,carbohydrate (keratan sulfate Gal-6) sulfotransferase 1,411aa) | g.11:45671554C>T,c.920G>A,p.R307Q |
| CHST1(NM_003654,carbohydrate (keratan sulfate Gal-6) sulfotransferase 1,411aa) | g.11:45671452G>A,c.1022C>T,p.T341I |
| CHST15(NM_001270764,carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15,561aa) | g.10:125805686C>T,c.43G>A,p.G15S |
| CHST15(NM_001270764,carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15,561aa) | g.10:125805631G>A,c.98C>T,p.A33V |
| CHST15(NM_001270764,carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15,561aa) | g.10:125805512G>A,c.217C>T,p.R73C |
| CHST15(NM_001270764,carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15,561aa) | g.10:125804250G>C,c.732C>G,p.H244Q |
| CHST15(NM_001270764,carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15,561aa) | g.10:125771945C>T,c.1399G>A,p.V467I |
| CHST15(NM_001270764,carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15,561aa) | g.10:125769759A>C,c.1592T>G,p.I531S |
| CHST15(NM_001270764,carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15,561aa) | g.10:125769691C>T,c.1660G>A,p.E554K |
| CHST15(NM_001270764,carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15,561aa) | g.10:125769682C>T,c.1669G>A,p.A557T |
| CHST14(NM_130468,carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14,376aa) | g.15:40764459G>C,c.1047G>C,p.Q349H |
| CHST14(NM_130468,carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14,376aa) | g.15:40764445C>T,c.1033C>T,p.R345W |
| CHST14(NM_130468,carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14,376aa) | g.15:40764047T>C,c.635T>C,p.V212A |
| CHST14(NM_130468,carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14,376aa) | g.15:40763563G>C,c.151G>C,p.V51L |
| CHST13(NM_152889,carbohydrate (chondroitin 4) sulfotransferase 13,341aa) | g.3:126261345G>A,c.950G>A,p.R317Q |
| CHST13(NM_152889,carbohydrate (chondroitin 4) sulfotransferase 13,341aa) | g.3:126261207C>T,c.812C>T,p.A271V |
| CHST13(NM_152889,carbohydrate (chondroitin 4) sulfotransferase 13,341aa) | g.3:126260991G>A,c.596G>A,p.R199H |
| CHST13(NM_152889,carbohydrate (chondroitin 4) sulfotransferase 13,341aa) | g.3:126260891G>A,c.496G>A,p.A166T |
| CHST13(NM_152889,carbohydrate (chondroitin 4) sulfotransferase 13,341aa) | g.3:126260630A>G,c.235A>G,p.S79G |
| CHST13(NM_152889,carbohydrate (chondroitin 4) sulfotransferase 13,341aa) | g.3:126255166C>G,c.150C>G,p.S50R |
| CHST12(NM_018641,carbohydrate (chondroitin 4) sulfotransferase 12,414aa) | g.7:2473130G>C,c.856G>C,p.A286P |
| CHST12(NM_018641,carbohydrate (chondroitin 4) sulfotransferase 12,414aa) | g.7:2472909C>T,c.635C>T,p.A212V |