| 基因名 | 突变 |
|---|---|
| GLTPD1(NM_001029885,glycolipid transfer protein domain containing 1,214aa) | g.1:1262815G>A,c.317G>A,p.R106Q |
| GLTPD1(NM_001029885,glycolipid transfer protein domain containing 1,214aa) | g.1:1262800C>T,c.302C>T,p.P101L |
| GLTPD1(NM_001029885,glycolipid transfer protein domain containing 1,214aa) | g.1:1262728G>A,c.230G>A,p.R77H |
| GLTPD1(NM_001029885,glycolipid transfer protein domain containing 1,214aa) | g.1:1262695G>A,c.197G>A,p.R66H |
| GLTPD1(NM_001029885,glycolipid transfer protein domain containing 1,214aa) | g.1:1262635T>A,c.137T>A,p.L46Q |
| GLT8D2(NM_031302,glycosyltransferase 8 domain containing 2,349aa) | g.12:104408832T>C,c.71A>G,p.Y24C |
| GLT8D2(NM_031302,glycosyltransferase 8 domain containing 2,349aa) | g.12:104408794C>T,c.109G>A,p.A37T |
| GLT8D2(NM_031302,glycosyltransferase 8 domain containing 2,349aa) | g.12:104396913C>T,c.284G>A,p.R95Q |
| GLT8D2(NM_031302,glycosyltransferase 8 domain containing 2,349aa) | g.12:104391279A>G,c.437T>C,p.I146T |
| GLT8D2(NM_031302,glycosyltransferase 8 domain containing 2,349aa) | g.12:104391275G>T,c.441C>A,p.H147Q |
| GLT8D2(NM_031302,glycosyltransferase 8 domain containing 2,349aa) | g.12:104388248T>C,c.632A>G,p.K211R |
| GLT8D2(NM_031302,glycosyltransferase 8 domain containing 2,349aa) | g.12:104388247C>G,c.633G>C,p.K211N |
| GLT8D2(NM_031302,glycosyltransferase 8 domain containing 2,349aa) | g.12:104387282C>G,c.768G>C,p.E256D |
| GLT8D2(NM_031302,glycosyltransferase 8 domain containing 2,349aa) | g.12:104387233T>C,c.817A>G,p.M273V |
| GLT8D1(NM_001010983,glycosyltransferase 8 domain containing 1,371aa) | g.3:52731899C>T,c.167G>A,p.R56Q |
| GLT8D1(NM_001010983,glycosyltransferase 8 domain containing 1,371aa) | g.3:52729960C>T,c.629G>A,p.R210H |
| GLT6D1(NM_182974,glycosyltransferase 6 domain containing 1,276aa) | g.9:138518023T>G,c.149A>C,p.D50A |
| GLT6D1(NM_182974,glycosyltransferase 6 domain containing 1,276aa) | g.9:138517982G>A,c.190C>T,p.R64W |
| GLT6D1(NM_182974,glycosyltransferase 6 domain containing 1,276aa) | g.9:138516452G>A,c.322C>T,p.R108X |
| GLT6D1(NM_182974,glycosyltransferase 6 domain containing 1,276aa) | g.9:138516385C>G,c.389G>C,p.R130P |
| GLT6D1(NM_182974,glycosyltransferase 6 domain containing 1,276aa) | g.9:138516347del,c.427del,p.143fs |
| GLT6D1(NM_182974,glycosyltransferase 6 domain containing 1,276aa) | g.9:138516227C>T,c.547G>A,p.G183R |
| GLT6D1(NM_182974,glycosyltransferase 6 domain containing 1,276aa) | g.9:138516190T>C,c.584A>G,p.H195R |
| GLT6D1(NM_182974,glycosyltransferase 6 domain containing 1,276aa) | g.9:138516128C>T,c.646G>A,p.A216T |
| GLT6D1(NM_182974,glycosyltransferase 6 domain containing 1,276aa) | g.9:138516119G>A,c.655C>T,p.P219S |
| GLT6D1(NM_182974,glycosyltransferase 6 domain containing 1,276aa) | g.9:138516047T>C,c.727A>G,p.I243V |
| GLT1D1(NM_144669,glycosyltransferase 1 domain containing 1,266aa) | g.12:129442132G>A,c.583G>A,p.G195R |
| GLT1D1(NM_144669,glycosyltransferase 1 domain containing 1,266aa) | g.12:129431980G>A,c.517G>A,p.G173S |