| 基因名 | 突变 |
|---|---|
| HSCB(NM_172002,HscB mitochondrial iron-sulfur cluster co-chaperone,235aa) | g.22:29138115G>A,c.32G>A,p.R11Q |
| HSBP1L1(NM_001136180,heat shock factor binding protein 1-like 1,74aa) | g.18:77728135G>T,c.165G>T,p.K55N |
| HSBP1L1(NM_001136180,heat shock factor binding protein 1-like 1,74aa) | g.18:77728107G>A,c.137G>A,p.R46H |
| HS6ST3(NM_153456,heparan sulfate 6-O-sulfotransferase 3,471aa) | g.13:97485295A>T,c.1259A>T,p.H420L |
| HS6ST3(NM_153456,heparan sulfate 6-O-sulfotransferase 3,471aa) | g.13:97485228G>A,c.1192G>A,p.E398K |
| HS6ST3(NM_153456,heparan sulfate 6-O-sulfotransferase 3,471aa) | g.13:97484922C>T,c.886C>T,p.R296W |
| HS6ST3(NM_153456,heparan sulfate 6-O-sulfotransferase 3,471aa) | g.13:97484830A>G,c.794A>G,p.K265R |
| HS6ST3(NM_153456,heparan sulfate 6-O-sulfotransferase 3,471aa) | g.13:96743730G>A,c.614G>A,p.S205N |
| HS6ST3(NM_153456,heparan sulfate 6-O-sulfotransferase 3,471aa) | g.13:96743249G>A,c.133G>A,p.E45K |
| HS6ST2(NM_001077188,heparan sulfate 6-O-sulfotransferase 2,645aa) | g.X:132092485G>A,c.146C>T,p.S49L |
| HS6ST2(NM_001077188,heparan sulfate 6-O-sulfotransferase 2,645aa) | g.X:132092479C>A,c.152G>T,p.R51L |
| HS6ST2(NM_001077188,heparan sulfate 6-O-sulfotransferase 2,645aa) | g.X:131803190C>T,c.1018G>A,p.A340T |
| HS6ST2(NM_001077188,heparan sulfate 6-O-sulfotransferase 2,645aa) | g.X:131803162C>T,c.1046G>A,p.R349Q |
| HS6ST2(NM_001077188,heparan sulfate 6-O-sulfotransferase 2,645aa) | g.X:131762658C>T,c.1531G>A,p.E511K |
| HS6ST2(NM_001077188,heparan sulfate 6-O-sulfotransferase 2,645aa) | g.X:131762528C>T,c.1661G>A,p.R554H |
| HS6ST2(NM_001077188,heparan sulfate 6-O-sulfotransferase 2,645aa) | g.X:131762480A>G,c.1709T>C,p.F570S |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129076016C>G,c.122G>C,p.S41T |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129075951G>C,c.187C>G,p.H63D |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129075877G>T,c.261C>A,p.D87E |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129026355G>A,c.617C>T,p.T206M |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129026320G>A,c.652C>T,p.P218S |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129026289G>A,c.683C>T,p.T228M |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129026227G>T,c.745C>A,p.R249S |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129026055C>T,c.917G>A,p.R306Q |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129026032G>A,c.940C>T,p.R314W |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129025872C>T,c.1100G>A,p.R367H |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129025860C>T,c.1112G>A,p.R371H |
| HS6ST1(NM_004807,heparan sulfate 6-O-sulfotransferase 1,411aa) | g.2:129025848C>T,c.1124G>A,p.R375H |