| 基因名 | 突变 |
|---|---|
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129025828G>A,c.1144C>T,p.R382W |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129025806C>T,c.1166G>A,p.R389Q |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129025795C>T,c.1177G>A,p.D393N |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129025758C>A,c.1214G>T,p.S405I |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1962132G>A,c.395C>T,p.A132V |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1962126C>T,c.401G>A,p.R134H |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1962123C>T,c.404G>A,p.R135H |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1962046C>T,c.481G>A,p.A161T |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1962024G>A,c.503C>T,p.P168L |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1961983del,c.544del,p.182fs |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1961868C>T,c.659G>A,p.R220H |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1961863C>T,c.664G>A,p.V222I |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1961842C>T,c.685G>A,p.V229I |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1961836G>A,c.691C>T,p.R231C |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1961731G>A,c.796C>T,p.R266C |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1961725G>A,c.802C>T,p.R268C |
| HS3ST6(NM_001009606,heparan sulfate (glucosamine) 3-O-sulfotransferase 6,311aa) | g.16:1961674G>C,c.853C>G,p.L285V |
| HS3ST5(NM_153612,heparan sulfate (glucosamine) 3-O-sulfotransferase 5,346aa) | g.6:114379286C>T,c.176G>A,p.R59H |
| HS3ST5(NM_153612,heparan sulfate (glucosamine) 3-O-sulfotransferase 5,346aa) | g.6:114379226T>C,c.236A>G,p.E79G |
| HS3ST5(NM_153612,heparan sulfate (glucosamine) 3-O-sulfotransferase 5,346aa) | g.6:114378722A>T,c.740T>A,p.I247N |
| HS3ST5(NM_153612,heparan sulfate (glucosamine) 3-O-sulfotransferase 5,346aa) | g.6:114378526A>C,c.936T>G,p.I312M |
| HS3ST4(NM_006040,heparan sulfate (glucosamine) 3-O-sulfotransferase 4,456aa) | g.16:26147454G>T,c.1256G>T,p.R419L |
| HS3ST4(NM_006040,heparan sulfate (glucosamine) 3-O-sulfotransferase 4,456aa) | g.16:26147334G>A,c.1136G>A,p.R379H |
| HS3ST4(NM_006040,heparan sulfate (glucosamine) 3-O-sulfotransferase 4,456aa) | g.16:25704310A>G,c.572A>G,p.D191G |
| HS3ST4(NM_006040,heparan sulfate (glucosamine) 3-O-sulfotransferase 4,456aa) | g.16:25704145A>G,c.407A>G,p.Q136R |
| HS3ST3B1(NM_006041,heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1,390aa) | g.17:14248937A>G,c.1147A>G,p.T383A |
| HS3ST3B1(NM_006041,heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1,390aa) | g.17:14248877G>A,c.1087G>A,p.E363K |
| HS3ST3B1(NM_006041,heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1,390aa) | g.17:14248376A>G,c.586A>G,p.I196V |