| 基因名 | 突变 |
|---|---|
| GALM(NM_138801,galactose mutarotase (aldose 1-epimerase),342aa) | g.2:38903107C>G,c.244C>G,p.R82G |
| GALK2(NM_001001556,galactokinase 2,447aa) | g.15:49620292C>T,c.1280C>T,p.P427L |
| GALK2(NM_001001556,galactokinase 2,447aa) | g.15:49575911C>T,c.719C>T,p.A240V |
| GALK2(NM_001001556,galactokinase 2,447aa) | g.15:49574223A>G,c.511A>G,p.I171V |
| GALK2(NM_001001556,galactokinase 2,447aa) | g.15:49574217C>T,c.505C>T,p.R169C |
| GALK2(NM_001001556,galactokinase 2,447aa) | g.15:49509471C>T,c.194C>T,p.T65M |
| GALK1(NM_000154,galactokinase 1,392aa) | g.17:73759113G>A,c.593C>T,p.A198V |
| GALK1(NM_000154,galactokinase 1,392aa) | g.17:73758859C>T,c.719G>A,p.R240Q |
| GALK1(NM_000154,galactokinase 1,392aa) | g.17:73754539C>T,c.935G>A,p.R312H |
| GALE(NM_000403,UDP-galactose-4-epimerase,348aa) | g.1:24124208G>A,c.505C>T,p.R169W |
| GALE(NM_000403,UDP-galactose-4-epimerase,348aa) | g.1:24124207C>T,c.506G>A,p.R169Q |
| GALE(NM_000403,UDP-galactose-4-epimerase,348aa) | g.1:24123249C>T,c.733G>A,p.V245M |
| GALE(NM_000403,UDP-galactose-4-epimerase,348aa) | g.1:24122482C>T,c.1004G>A,p.R335H |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88459468G>C,c.41C>G,p.A14G |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88459448C>G,c.61G>C,p.A21P |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88452941T>C,c.334A>G,p.T112A |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88452896G>A,c.379C>T,p.R127X |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88450770G>A,c.550C>T,p.R184C |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88442712C>T,c.742G>A,p.D248N |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88431969T>C,c.913A>G,p.I305V |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88431926T>C,c.956A>G,p.Y319C |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88429780T>A,c.1109A>T,p.Y370F |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88416247T>C,c.1280A>G,p.Y427C |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88411994C>T,c.1573G>A,p.E525K |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88411975C>T,c.1592G>A,p.R531H |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88407888A>G,c.1685T>C,p.I562T |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88406259A>G,c.1901T>C,p.L634S |
| GALC(NM_000153,galactosylceramidase,685aa) | g.14:88401213T>C,c.1921A>G,p.T641A |