| 基因名 | 突变 |
|---|---|
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17564311C>A,c.343G>T,p.A115S |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17451882G>A,c.389C>T,p.T130I |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17353090G>C,c.668C>G,p.A223G |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17353066T>C,c.692A>G,p.K231R |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17352862C>T,c.896G>A,p.R299Q |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17292204G>A,c.1154C>T,p.P385L |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17292142G>A,c.1216C>T,p.R406W |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17252746G>A,c.1310C>T,p.A437V |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17232361T>C,c.1615A>G,p.S539G |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17232234G>A,c.1742C>T,p.P581L |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17232220G>A,c.1756C>T,p.R586C |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17228439C>T,c.1918G>A,p.G640S |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17228372C>T,c.1985G>A,p.R662Q |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17228363G>A,c.1994C>T,p.T665M |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17211682G>A,c.2378C>T,p.A793V |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17211545C>T,c.2515G>A,p.V839I |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17202871T>G,c.2561A>C,p.E854A |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17202776C>A,c.2656G>T,p.A886S |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17202757C>T,c.2675G>A,p.R892Q |
| XYLT1(NM_022166,xylosyltransferase I,959aa) | g.16:17202610A>T,c.2822T>A,p.F941Y |
| XYLB(NM_005108,xylulokinase homolog (H. influenzae),536aa) | g.3:38442397C>T,c.1454C>T,p.T485I |
| XYLB(NM_005108,xylulokinase homolog (H. influenzae),536aa) | g.3:38438638C>T,c.1426C>T,p.R476X |
| XYLB(NM_005108,xylulokinase homolog (H. influenzae),536aa) | g.3:38438615C>T,c.1403C>T,p.S468L |
| XYLB(NM_005108,xylulokinase homolog (H. influenzae),536aa) | g.3:38420828G>A,c.1286G>A,p.R429Q |
| XYLB(NM_005108,xylulokinase homolog (H. influenzae),536aa) | g.3:38420753G>A,c.1211G>A,p.G404E |
| XYLB(NM_005108,xylulokinase homolog (H. influenzae),536aa) | g.3:38418456C>T,c.1168C>T,p.H390Y |
| XYLB(NM_005108,xylulokinase homolog (H. influenzae),536aa) | g.3:38417645A>G,c.1042A>G,p.N348D |
| XYLB(NM_005108,xylulokinase homolog (H. influenzae),536aa) | g.3:38417643G>A,c.1040G>A,p.R347H |