| 基因名 | 突变 |
|---|---|
| GLB1L(NM_024506,galactosidase, beta 1-like,654aa) | g.2:220104523G>A,c.754C>T,p.R252W |
| GLB1L(NM_024506,galactosidase, beta 1-like,654aa) | g.2:220103491A>G,c.1073T>C,p.V358A |
| GLB1L(NM_024506,galactosidase, beta 1-like,654aa) | g.2:220103266C>T,c.1178G>A,p.R393H |
| GLB1L(NM_024506,galactosidase, beta 1-like,654aa) | g.2:220102994C>T,c.1319G>A,p.R440H |
| GLB1L3(NM_001080407,galactosidase, beta 1-like 3,653aa) | g.11:134188558C>T,c.1813C>T,p.R605C |
| GLB1L3(NM_001080407,galactosidase, beta 1-like 3,653aa) | g.11:134183850T>C,c.1595T>C,p.V532A |
| GLB1L3(NM_001080407,galactosidase, beta 1-like 3,653aa) | g.11:134182375G>A,c.1420G>A,p.V474M |
| GLB1L3(NM_001080407,galactosidase, beta 1-like 3,653aa) | g.11:134182264G>A,c.1309G>A,p.V437I |
| GLB1L3(NM_001080407,galactosidase, beta 1-like 3,653aa) | g.11:134180962_134180963insC,c.1185_1186insC,p.395fs |
| GLB1L3(NM_001080407,galactosidase, beta 1-like 3,653aa) | g.11:134179637C>G,c.1079C>G,p.S360W |
| GLB1L3(NM_001080407,galactosidase, beta 1-like 3,653aa) | g.11:134153684T>C,c.581T>C,p.I194T |
| GLB1L3(NM_001080407,galactosidase, beta 1-like 3,653aa) | g.11:134151975G>C,c.488G>C,p.R163P |
| GLB1L3(NM_001080407,galactosidase, beta 1-like 3,653aa) | g.11:134151279C>T,c.371C>T,p.P124L |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134244923C>A,c.1882C>A,p.H628N |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134244891C>T,c.1850C>T,p.A617V |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134241337T>C,c.1379T>C,p.I460T |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134240289G>A,c.1211G>A,p.G404E |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134239728G>A,c.1057G>A,p.D353N |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134238603G>A,c.955G>A,p.G319R |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134237200C>T,c.854C>T,p.S285L |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134237151G>C,c.805G>C,p.G269R |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134229017A>C,c.715A>C,p.K239Q |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134226264G>A,c.628G>A,p.A210T |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134226251T>A,c.615T>A,p.Y205X |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134226244G>A,c.608G>A,p.G203D |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134214984C>G,c.410C>G,p.P137R |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134214974C>T,c.400C>T,p.R134C |
| GLB1L2(NM_138342,galactosidase, beta 1-like 2,636aa) | g.11:134214956G>A,c.382G>A,p.G128R |