| 基因名 | 突变 |
|---|---|
| FUK(NM_145059,fucokinase,1084aa) | g.16:70505194C>T,c.1280C>T,p.T427M |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70504952G>A,c.1147G>A,p.V383I |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70503220A>G,c.949A>G,p.T317A |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70503181C>T,c.910C>T,p.R304W |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70503178G>T,c.907G>T,p.A303S |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70503095A>G,c.824A>G,p.N275S |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70502861G>A,c.773G>A,p.R258Q |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70502792G>A,c.704G>A,p.R235H |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70502771T>A,c.683T>A,p.F228Y |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70501297C>T,c.505C>T,p.R169W |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70500809G>A,c.436G>A,p.V146M |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70500086G>A,c.337G>A,p.V113M |
| FUK(NM_145059,fucokinase,1084aa) | g.16:70500084C>T,c.335C>T,p.P112L |
| FUCA2(NM_032020,fucosidase, alpha-L- 2, plasma,467aa) | g.6:143832710A>G,c.62T>C,p.L21P |
| FUCA2(NM_032020,fucosidase, alpha-L- 2, plasma,467aa) | g.6:143828518T>C,c.268A>G,p.M90V |
| FUCA2(NM_032020,fucosidase, alpha-L- 2, plasma,467aa) | g.6:143825104G>T,c.698C>A,p.A233E |
| FUCA2(NM_032020,fucosidase, alpha-L- 2, plasma,467aa) | g.6:143823508A>G,c.947T>C,p.I316T |
| FUCA2(NM_032020,fucosidase, alpha-L- 2, plasma,467aa) | g.6:143823157T>C,c.1066A>G,p.M356V |
| FUCA2(NM_032020,fucosidase, alpha-L- 2, plasma,467aa) | g.6:143823112G>A,c.1111C>T,p.H371Y |
| FUCA2(NM_032020,fucosidase, alpha-L- 2, plasma,467aa) | g.6:143823102C>T,c.1121G>A,p.R374Q |
| FUCA1(NM_000147,fucosidase, alpha-L- 1, tissue,466aa) | g.1:24194773G>A,c.4C>T,p.R2W |
| FUCA1(NM_000147,fucosidase, alpha-L- 1, tissue,466aa) | g.1:24194770C>G,c.7G>C,p.A3P |
| FUCA1(NM_000147,fucosidase, alpha-L- 1, tissue,466aa) | g.1:24194748G>C,c.29C>G,p.P10R |
| FUCA1(NM_000147,fucosidase, alpha-L- 1, tissue,466aa) | g.1:24192072A>G,c.433T>C,p.W145R |
| FUCA1(NM_000147,fucosidase, alpha-L- 1, tissue,466aa) | g.1:24192020C>T,c.485G>A,p.R162Q |
| FUCA1(NM_000147,fucosidase, alpha-L- 1, tissue,466aa) | g.1:24189754G>A,c.532C>T,p.R178C |
| FUCA1(NM_000147,fucosidase, alpha-L- 1, tissue,466aa) | g.1:24180962T>C,c.857A>G,p.Q286R |
| FUCA1(NM_000147,fucosidase, alpha-L- 1, tissue,466aa) | g.1:24175172C>T,c.1127G>A,p.R376Q |