| 基因名 | 突变 |
|---|---|
| UGP2(NM_006759,UDP-glucose pyrophosphorylase 2,508aa) | g.2:64112970C>T,c.823C>T,p.R275C |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96675361C>T,c.418G>A,p.V140I |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96665697G>A,c.524C>T,p.P175L |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96665656C>T,c.565G>A,p.E189K |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96648384T>C,c.763A>G,p.T255A |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96642236C>T,c.922G>A,p.E308K |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96638651C>T,c.967G>A,p.A323T |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96638636A>C,c.982T>G,p.S328A |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96624885C>T,c.1133G>A,p.R378H |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96622409C>G,c.1292G>C,p.W431S |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96601606G>A,c.1438C>T,p.R480C |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96601605C>T,c.1439G>A,p.R480H |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96599295A>G,c.1673T>C,p.V558A |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96579380A>C,c.2102T>G,p.V701G |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96578023T>G,c.2206A>C,p.S736R |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96555295C>T,c.2315G>A,p.R772Q |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96555284T>C,c.2326A>G,p.I776V |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96555149C>T,c.2461G>A,p.A821T |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96555112A>G,c.2498T>C,p.I833T |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96546880G>A,c.2791C>T,p.L931F |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96546875C>G,c.2796G>C,p.M932I |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96546850G>A,c.2821C>T,p.R941X |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96543207G>A,c.2867C>T,p.T956M |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96540204T>G,c.2980A>C,p.M994L |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96540168G>A,c.3016C>T,p.L1006F |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96519649G>C,c.3502C>G,p.L1168V |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96515937T>A,c.3590A>T,p.D1197V |
| UGGT2(NM_020121,UDP-glucose glycoprotein glucosyltransferase 2,1516aa) | g.13:96511906C>T,c.3764G>A,p.R1255H |