| 基因名 | 突变 |
|---|---|
| HS3ST3B1(NM_006041,heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1,390aa) | g.17:14205088C>T,c.253C>T,p.P85S |
| HS3ST3B1(NM_006041,heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1,390aa) | g.17:14205082G>C,c.247G>C,p.G83R |
| HS3ST3B1(NM_006041,heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1,390aa) | g.17:14204888T>A,c.53T>A,p.L18H |
| HS3ST3B1(NM_006041,heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1,390aa) | g.17:14204840G>A,c.5G>A,p.G2E |
| HS3ST3A1(NM_006042,heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1,406aa) | g.17:13504194C>A,c.253G>T,p.A85S |
| HS3ST3A1(NM_006042,heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1,406aa) | g.17:13503882C>G,c.565G>C,p.D189H |
| HS3ST3A1(NM_006042,heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1,406aa) | g.17:13503879G>C,c.568C>G,p.R190G |
| HS3ST3A1(NM_006042,heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1,406aa) | g.17:13400048G>C,c.687C>G,p.I229M |
| HS3ST3A1(NM_006042,heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1,406aa) | g.17:13400028G>A,c.707C>T,p.T236I |
| HS3ST2(NM_006043,heparan sulfate (glucosamine) 3-O-sulfotransferase 2,367aa) | g.16:22826046T>G,c.115T>G,p.C39G |
| HS3ST1(NM_005114,heparan sulfate (glucosamine) 3-O-sulfotransferase 1,307aa) | g.4:11400746T>C,c.884A>G,p.K295R |
| HS2ST1(NM_012262,heparan sulfate 2-O-sulfotransferase 1,356aa) | g.1:87570335G>T,c.1027G>T,p.A343S |
| HS2ST1(NM_012262,heparan sulfate 2-O-sulfotransferase 1,356aa) | g.1:87570306G>A,c.998G>A,p.R333Q |
| HS2ST1(NM_012262,heparan sulfate 2-O-sulfotransferase 1,356aa) | g.1:87570209A>G,c.901A>G,p.I301V |
| HS2ST1(NM_012262,heparan sulfate 2-O-sulfotransferase 1,356aa) | g.1:87538679C>T,c.187C>T,p.R63W |
| HS2ST1(NM_012262,heparan sulfate 2-O-sulfotransferase 1,356aa) | g.1:87538625A>G,c.133A>G,p.I45V |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20845156G>A,c.142C>T,p.R48C |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20840823G>A,c.316C>T,p.R106W |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20840790G>A,c.349C>T,p.R117C |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20838377T>C,c.442A>G,p.R148G |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20838277G>A,c.542C>T,p.P181L |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20838254C>T,c.565G>A,p.E189K |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20838220G>A,c.599C>T,p.A200V |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20824498C>T,c.778G>A,p.V260M |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20823759C>T,c.817G>A,p.G273R |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20818889A>C,c.1037T>G,p.V346G |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20818883G>C,c.1043C>G,p.P348R |
| HS1BP3(NM_022460,HCLS1 binding protein 3,392aa) | g.2:20818764C>T,c.1162G>A,p.A388T |