| 基因名 | 突变 |
|---|---|
| UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) | g.19:17760388del,c.1448del,p.483fs |
| UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) | g.19:17752331T>C,c.2507A>G,p.N836S |
| UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) | g.19:17749893G>A,c.3080C>T,p.P1027L |
| UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) | g.19:17746947A>G,c.3101T>C,p.L1034P |
| UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) | g.19:17743968C>T,c.3250G>A,p.A1084T |
| UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) | g.19:17743622C>A,c.3397G>T,p.A1133S |
| UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) | g.19:17738333C>T,c.3905G>A,p.R1302Q |
| UNC13A(NM_001080421,unc-13 homolog A (C. elegans),1703aa) | g.19:17735631G>A,c.4203+1C>T,p.1401Donor |
| UNC119(NM_054035,unc-119 homolog (C. elegans),220aa) | g.17:26875038C>T,c.416G>A,p.R139H |
| UNC119(NM_054035,unc-119 homolog (C. elegans),220aa) | g.17:26874799T>C,c.506A>G,p.N169S |
| UNC119(NM_054035,unc-119 homolog (C. elegans),220aa) | g.17:26874784C>G,c.521G>C,p.S174T |
| UNC119B(NM_001080533,unc-119 homolog B (C. elegans),251aa) | g.12:121154493C>T,c.421C>T,p.R141C |
| UMPS(NM_000373,uridine monophosphate synthetase,480aa) | g.3:124462824A>G,c.1336A>G,p.I446V |
| UMPS(NM_000373,uridine monophosphate synthetase,480aa) | g.3:124462785A>T,c.1297A>T,p.N433Y |
| UMPS(NM_000373,uridine monophosphate synthetase,480aa) | g.3:124462773G>C,c.1285G>C,p.G429R |
| UMPS(NM_000373,uridine monophosphate synthetase,480aa) | g.3:124458994C>T,c.1106C>T,p.A369V |
| UMPS(NM_000373,uridine monophosphate synthetase,480aa) | g.3:124458976G>A,c.1088G>A,p.R363Q |
| UMPS(NM_000373,uridine monophosphate synthetase,480aa) | g.3:124456786G>A,c.682G>A,p.G228S |
| UMPS(NM_000373,uridine monophosphate synthetase,480aa) | g.3:124456742G>C,c.638G>C,p.G213A |
| UMPS(NM_000373,uridine monophosphate synthetase,480aa) | g.3:124456424G>A,c.320G>A,p.R107H |
| UMPS(NM_000373,uridine monophosphate synthetase,480aa) | g.3:124449406A>G,c.88A>G,p.S30G |
| UMOD(NM_001278614,uromodulin,673aa) | g.16:20361149G>A,c.131C>T,p.P44L |
| UMOD(NM_001278614,uromodulin,673aa) | g.16:20361096C>T,c.184G>A,p.G62R |
| UMOD(NM_001278614,uromodulin,673aa) | g.16:20360198C>T,c.524G>A,p.R175Q |
| UMOD(NM_001278614,uromodulin,673aa) | g.16:20357506C>T,c.1223G>A,p.R408Q |
| UMOD(NM_001278614,uromodulin,673aa) | g.16:20357477G>A,c.1252C>T,p.R418W |
| UMOD(NM_001278614,uromodulin,673aa) | g.16:20352618C>A,c.1471G>T,p.V491L |
| UMOD(NM_001278614,uromodulin,673aa) | g.16:20352615G>A,c.1474C>T,p.R492W |