| 基因名 | 突变 |
|---|---|
| GYG2(NM_003918,glycogenin 2,501aa) | g.X:2799114T>C,c.1366T>C,p.S456P |
| GYG2(NM_003918,glycogenin 2,501aa) | g.X:2793951T>C,c.1232T>C,p.I411T |
| GYG2(NM_003918,glycogenin 2,501aa) | g.X:2779749C>T,c.1117C>T,p.R373C |
| GYG2(NM_003918,glycogenin 2,501aa) | g.X:2779645C>T,c.1013C>T,p.A338V |
| GYG2(NM_003918,glycogenin 2,501aa) | g.X:2779570A>G,c.938A>G,p.H313R |
| GYG2(NM_003918,glycogenin 2,501aa) | g.X:2778089G>A,c.913G>A,p.A305T |
| GYG2(NM_003918,glycogenin 2,501aa) | g.X:2778008G>A,c.832G>A,p.A278T |
| GYG2(NM_003918,glycogenin 2,501aa) | g.X:2777985C>T,c.809C>T,p.A270V |
| GYG2(NM_003918,glycogenin 2,501aa) | g.X:2773172G>A,c.556G>A,p.A186T |
| GYG2(NM_003918,glycogenin 2,501aa) | g.X:2773094G>A,c.478G>A,p.G160R |
| GYG2(NM_003918,glycogenin 2,501aa) | g.X:2761050C>T,c.19C>T,p.H7Y |
| GYG1(NM_004130,glycogenin 1,350aa) | g.3:148744282G>T,c.872G>T,p.C291F |
| GYG1(NM_004130,glycogenin 1,350aa) | g.3:148741998A>C,c.767A>C,p.N256T |
| GYG1(NM_004130,glycogenin 1,350aa) | g.3:148714662A>T,c.452A>T,p.H151L |
| GYG1(NM_004130,glycogenin 1,350aa) | g.3:148712058C>G,c.137C>G,p.S46C |
| GYG1(NM_004130,glycogenin 1,350aa) | g.3:148712036G>A,c.115G>A,p.A39T |
| GYG1(NM_004130,glycogenin 1,350aa) | g.3:148712019G>A,c.98G>A,p.R33K |
| GYG1(NM_004130,glycogenin 1,350aa) | g.3:148711967G>A,c.46G>A,p.A16T |
| GXYLT2(NM_001080393,glucoside xylosyltransferase 2,443aa) | g.3:73024242G>A,c.1264G>A,p.E422K |
| GXYLT2(NM_001080393,glucoside xylosyltransferase 2,443aa) | g.3:72957598A>G,c.356A>G,p.N119S |
| GXYLT2(NM_001080393,glucoside xylosyltransferase 2,443aa) | g.3:72957570A>C,c.328A>C,p.I110L |
| GXYLT2(NM_001080393,glucoside xylosyltransferase 2,443aa) | g.3:72957538G>A,c.296G>A,p.S99N |
| GXYLT1(NM_173601,glucoside xylosyltransferase 1,440aa) | g.12:42538334C>A,c.115G>T,p.G39W |
| GXYLT1(NM_173601,glucoside xylosyltransferase 1,440aa) | g.12:42499763T>C,c.721A>G,p.I241V |
| GXYLT1(NM_173601,glucoside xylosyltransferase 1,440aa) | g.12:42491335T>C,c.1070A>G,p.E357G |
| GUSB(NM_000181,glucuronidase, beta,651aa) | g.7:65447158A>G,c.13T>C,p.S5P |
| GUSB(NM_000181,glucuronidase, beta,651aa) | g.7:65444464G>A,c.646C>T,p.R216W |
| GUSB(NM_000181,glucuronidase, beta,651aa) | g.7:65439688G>A,c.1069C>T,p.R357X |