| 基因名 | 突变 |
|---|---|
| GANC(NM_198141,glucosidase, alpha; neutral C,914aa) | g.15:42579949G>A,c.262G>A,p.E88K |
| GANC(NM_198141,glucosidase, alpha; neutral C,914aa) | g.15:42579917T>C,c.230T>C,p.I77T |
| GANC(NM_198141,glucosidase, alpha; neutral C,914aa) | g.15:42570718A>G,c.131A>G,p.Q44R |
| GANC(NM_198141,glucosidase, alpha; neutral C,914aa) | g.15:42568593A>G,c.77A>G,p.K26R |
| GANC(NM_198141,glucosidase, alpha; neutral C,914aa) | g.15:42568547C>G,c.31C>G,p.L11V |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62407195G>A,c.47C>T,p.A16V |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62406468G>C,c.367C>G,p.P123A |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62402393G>A,c.460C>T,p.R154W |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62402392C>T,c.461G>A,p.R154Q |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62402335C>T,c.518G>A,p.R173Q |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62400116T>C,c.983A>G,p.N328S |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62400108G>A,c.991C>T,p.R331C |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62398640T>C,c.1078A>G,p.M360V |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62398249G>A,c.1276C>T,p.R426W |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62398204G>A,c.1321C>T,p.H441Y |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62397114T>C,c.1846A>G,p.M616V |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62394780T>C,c.2292A>G,p.I764M |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62394140C>T,c.2480G>A,p.R827H |
| GANAB(NM_198335,glucosidase, alpha; neutral AB,966aa) | g.11:62394070G>C,c.2550C>G,p.I850M |
| GAMT(NM_138924,guanidinoacetate N-methyltransferase,269aa) | g.19:1401417C>G,c.59G>C,p.W20S |
| GAMT(NM_138924,guanidinoacetate N-methyltransferase,269aa) | g.19:1401397A>G,c.79T>C,p.Y27H |
| GAMT(NM_138924,guanidinoacetate N-methyltransferase,269aa) | g.19:1399892G>A,c.227C>T,p.S76L |
| GAMT(NM_138924,guanidinoacetate N-methyltransferase,269aa) | g.19:1399808G>A,c.311C>T,p.P104L |
| GAMT(NM_138924,guanidinoacetate N-methyltransferase,269aa) | g.19:1399583T>G,c.331A>C,p.I111L |
| GALT(NM_000155,galactose-1-phosphate uridylyltransferase,379aa) | g.9:34649520G>A,c.1018G>A,p.E340K |
| GALT(NM_000155,galactose-1-phosphate uridylyltransferase,379aa) | g.9:34649508A>G,c.1006A>G,p.M336V |
| GALT(NM_000155,galactose-1-phosphate uridylyltransferase,379aa) | g.9:34649442A>G,c.940A>G,p.N314D |
| GALT(NM_000155,galactose-1-phosphate uridylyltransferase,379aa) | g.9:34648398G>C,c.632G>C,p.S211T |