| 基因名 | 突变 |
|---|---|
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96511868T>A,c.3802A>T,p.N1268Y |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96511850A>G,c.3820T>C,p.F1274L |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96508579T>C,c.3841A>G,p.M1281V |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96508566T>A,c.3854A>T,p.Y1285F |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96506633C>T,c.4105G>A,p.G1369R |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96506596T>C,c.4142A>G,p.H1381R |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96506585G>A,c.4153C>T,p.R1385W |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128937391A>G,c.3847A>G,p.K1283E |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128935491A>G,c.3710A>G,p.K1237R |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128931476A>G,c.3416A>G,p.N1139S |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128927886A>T,c.2946A>T,p.E982D |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128918769G>A,c.2752G>A,p.E918K |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128917278C>T,c.2546C>T,p.A849V |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128917277G>T,c.2545G>T,p.A849S |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128914888C>T,c.2323C>T,p.R775W |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128913138G>A,c.2213G>A,p.S738N |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128903531C>T,c.2006C>T,p.A669V |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128903470G>A,c.1945G>A,p.D649N |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128903460G>C,c.1935G>C,p.Q645H |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128900794C>T,c.1846C>T,p.R616W |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128900721T>G,c.1773T>G,p.S591R |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128886727G>A,c.1351G>A,p.V451I |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128878832G>A,c.1033G>A,p.V345I |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128872716G>A,c.715G>A,p.V239I |
| UGGT1(NM_020120,UDP-glucose glycoprotein glucosyltransferase 1,1555aa) | g.2:128865517G>A,c.283G>A,p.D95N |
| UGDH(NM_003359,UDP-glucose 6-dehydrogenase,494aa) | g.4:39512325G>A,c.421C>T,p.R141C |
| UGCG(NM_003358,UDP-glucose ceramide glucosyltransferase,394aa) | g.9:114693609A>G,c.796A>G,p.I266V |
| UGCG(NM_003358,UDP-glucose ceramide glucosyltransferase,394aa) | g.9:114691901T>C,c.680T>C,p.I227T |