| 基因名 | 突变 |
|---|---|
| GUSB(NM_000181,glucuronidase, beta,651aa) | g.7:65439544C>T,c.1213G>A,p.D405N |
| GUSB(NM_000181,glucuronidase, beta,651aa) | g.7:65439382C>T,c.1291G>A,p.E431K |
| GUSB(NM_000181,glucuronidase, beta,651aa) | g.7:65425894A>G,c.1946T>C,p.L649P |
| GUK1(NM_000858,guanylate kinase 1,197aa) | g.1:228336104A>G,c.508A>G,p.I170V |
| GUK1(NM_000858,guanylate kinase 1,197aa) | g.1:228335391A>G,c.466A>G,p.M156V |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44700642G>A,c.1954G>A,p.V652I |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44697751C>T,c.1835C>T,p.T612I |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44697642C>T,c.1726C>T,p.H576Y |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44696527A>G,c.1712A>G,p.H571R |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44693784C>G,c.1581C>G,p.D527E |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44691907T>A,c.1250T>A,p.L417Q |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44691336A>G,c.1112A>G,p.N371S |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44690127C>T,c.1042C>T,p.P348S |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44688540C>T,c.748C>T,p.R250C |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44688041G>A,c.734+1G>A,p.245Donor |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44684357C>G,c.514C>G,p.Q172E |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44683156G>T,c.443G>T,p.S148I |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44682844T>A,c.411T>A,p.N137K |
| GUF1(NM_021927,GUF1 GTPase homolog (S. cerevisiae),669aa) | g.4:44682465T>C,c.173T>C,p.L58P |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108719047G>C,c.119C>G,p.S40C |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108718851C>G,c.315G>C,p.Q105H |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108718687A>T,c.479T>A,p.I160N |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108718478G>A,c.688C>T,p.R230W |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108708637C>T,c.766G>A,p.G256R |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108708552A>G,c.851T>C,p.L284P |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108708516C>T,c.887G>A,p.R296Q |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108708490G>A,c.913C>T,p.R305W |
| GUCY2F(NM_001522,guanylate cyclase 2F, retinal,1108aa) | g.X:108708433A>G,c.970T>C,p.Y324H |