| 基因名 | 突变 |
|---|---|
| HAUS5(NM_015302,HAUS augmin-like complex, subunit 5,633aa) | g.19:36104786C>T,c.178C>T,p.R60W |
| HAUS4(NM_001166269,HAUS augmin-like complex, subunit 4,363aa) | g.14:23415772G>A,c.1054C>T,p.R352W |
| HAUS3(NM_024511,HAUS augmin-like complex, subunit 3,603aa) | g.4:2242450G>A,c.224C>T,p.A75V |
| HAUS3(NM_024511,HAUS augmin-like complex, subunit 3,603aa) | g.4:2242126G>C,c.548C>G,p.S183C |
| HAUS3(NM_024511,HAUS augmin-like complex, subunit 3,603aa) | g.4:2240736G>C,c.944C>G,p.S315C |
| HAUS3(NM_024511,HAUS augmin-like complex, subunit 3,603aa) | g.4:2240484C>T,c.1196G>A,p.R399Q |
| HAUS3(NM_024511,HAUS augmin-like complex, subunit 3,603aa) | g.4:2240475T>C,c.1205A>G,p.Y402C |
| HAUS3(NM_024511,HAUS augmin-like complex, subunit 3,603aa) | g.4:2238026G>A,c.1507C>T,p.R503W |
| HAUS3(NM_024511,HAUS augmin-like complex, subunit 3,603aa) | g.4:2233709A>G,c.1757T>C,p.I586T |
| HAUS2(NM_018097,HAUS augmin-like complex, subunit 2,235aa) | g.15:42853561T>C,c.350T>C,p.M117T |
| HAUS2(NM_018097,HAUS augmin-like complex, subunit 2,235aa) | g.15:42851600T>C,c.250T>C,p.F84L |
| HAUS2(NM_018097,HAUS augmin-like complex, subunit 2,235aa) | g.15:42851598T>C,c.248T>C,p.F83S |
| HAUS1(NM_138443,HAUS augmin-like complex, subunit 1,278aa) | g.18:43704839T>C,c.718T>C,p.S240P |
| HAUS1(NM_138443,HAUS augmin-like complex, subunit 1,278aa) | g.18:43702492G>A,c.536G>A,p.R179H |
| HAUS1(NM_138443,HAUS augmin-like complex, subunit 1,278aa) | g.18:43700025G>A,c.475G>A,p.E159K |
| HAUS1(NM_138443,HAUS augmin-like complex, subunit 1,278aa) | g.18:43699932C>T,c.382C>T,p.R128C |
| HAUS1(NM_138443,HAUS augmin-like complex, subunit 1,278aa) | g.18:43698246C>T,c.305C>T,p.A102V |
| HAT1(NM_003642,histone acetyltransferase 1,419aa) | g.2:172841213C>T,c.941C>T,p.A314V |
| HAT1(NM_003642,histone acetyltransferase 1,419aa) | g.2:172841176C>T,c.904C>T,p.R302W |
| HAT1(NM_003642,histone acetyltransferase 1,419aa) | g.2:172822959C>T,c.641C>T,p.T214M |
| HAT1(NM_003642,histone acetyltransferase 1,419aa) | g.2:172822365A>T,c.547A>T,p.M183L |
| HAT1(NM_003642,histone acetyltransferase 1,419aa) | g.2:172822320T>C,c.502T>C,p.C168R |
| HAS3(NM_001199280,hyaluronan synthase 3,553aa) | g.16:69143816G>A,c.518G>A,p.R173H |
| HAS3(NM_001199280,hyaluronan synthase 3,553aa) | g.16:69143615G>A,c.317G>A,p.R106H |
| HAS3(NM_001199280,hyaluronan synthase 3,553aa) | g.16:69143471T>C,c.173T>C,p.I58T |
| HAS3(NM_001199280,hyaluronan synthase 3,553aa) | g.16:69143315C>T,c.17C>T,p.T6M |
| HAS2(NM_005328,hyaluronan synthase 2,552aa) | g.8:122641109C>T,c.472G>A,p.G158S |
| HAS2(NM_005328,hyaluronan synthase 2,552aa) | g.8:122641070C>T,c.511G>A,p.V171I |