
| 基因名 | 突变 |
|---|---|
| GOSR2(NM_004287,golgi SNAP receptor complex member 2,212aa) | g.17:45008570G>A,c.200G>A,p.R67K |
| GOSR2(NM_004287,golgi SNAP receptor complex member 2,212aa) | g.17:45008519G>A,c.149G>A,p.R50H |
| GOSR2(NM_004287,golgi SNAP receptor complex member 2,212aa) | g.17:45008518C>T,c.148C>T,p.R50C |
| GOSR2(NM_004287,golgi SNAP receptor complex member 2,212aa) | g.17:45006924A>G,c.68A>G,p.E23G |
| GOSR2(NM_004287,golgi SNAP receptor complex member 2,212aa) | g.17:45000565C>A,c.7C>A,p.P3T |
| GOSR1(NM_001007024,golgi SNAP receptor complex member 1,185aa) | g.17:28811723G>A,c.88G>A,p.A30T |
| GORASP2(NM_015530,golgi reassembly stacking protein 2, 55kDa,452aa) | g.2:171822576C>T,c.1295C>T,p.S432F |
| GORASP2(NM_015530,golgi reassembly stacking protein 2, 55kDa,452aa) | g.2:171822525C>T,c.1244C>T,p.T415M |
| GORASP2(NM_015530,golgi reassembly stacking protein 2, 55kDa,452aa) | g.2:171822498C>T,c.1217C>T,p.A406V |
| GORASP2(NM_015530,golgi reassembly stacking protein 2, 55kDa,452aa) | g.2:171822459C>T,c.1178C>T,p.A393V |
| GORASP2(NM_015530,golgi reassembly stacking protein 2, 55kDa,452aa) | g.2:171822387C>T,c.1106C>T,p.P369L |
| GORASP1(NM_031899,golgi reassembly stacking protein 1, 65kDa,440aa) | g.3:39145016G>A,c.92C>T,p.A31V |
| GORASP1(NM_031899,golgi reassembly stacking protein 1, 65kDa,440aa) | g.3:39142562G>A,c.380C>T,p.A127V |
| GORASP1(NM_031899,golgi reassembly stacking protein 1, 65kDa,440aa) | g.3:39142526G>A,c.416C>T,p.S139L |
| GORASP1(NM_031899,golgi reassembly stacking protein 1, 65kDa,440aa) | g.3:39142284G>A,c.520C>T,p.R174W |
| GORASP1(NM_031899,golgi reassembly stacking protein 1, 65kDa,440aa) | g.3:39141980A>G,c.581T>C,p.I194T |
| GORASP1(NM_031899,golgi reassembly stacking protein 1, 65kDa,440aa) | g.3:39140352C>A,c.949G>T,p.D317Y |
| GORASP1(NM_031899,golgi reassembly stacking protein 1, 65kDa,440aa) | g.3:39140337T>C,c.964A>G,p.S322G |
| GORASP1(NM_031899,golgi reassembly stacking protein 1, 65kDa,440aa) | g.3:39139911G>A,c.1139C>T,p.A380V |
| GORASP1(NM_031899,golgi reassembly stacking protein 1, 65kDa,440aa) | g.3:39139776G>A,c.1274C>T,p.T425M |
| GORAB(NM_152281,golgin, RAB6-interacting,394aa) | g.1:170521557G>T,c.1139G>T,p.C380F |
| GORAB(NM_152281,golgin, RAB6-interacting,394aa) | g.1:170521434C>T,c.1016C>T,p.A339V |
| GORAB(NM_152281,golgin, RAB6-interacting,394aa) | g.1:170521376G>A,c.958G>A,p.E320K |
| GORAB(NM_152281,golgin, RAB6-interacting,394aa) | g.1:170521212G>A,c.794G>A,p.R265H |
| GORAB(NM_152281,golgin, RAB6-interacting,394aa) | g.1:170513949C>T,c.700C>T,p.R234W |
| GORAB(NM_152281,golgin, RAB6-interacting,394aa) | g.1:170508372G>A,c.158G>A,p.R53H |
| GORAB(NM_152281,golgin, RAB6-interacting,394aa) | g.1:170501344G>A,c.55G>A,p.G19R |
| GOPC(NM_020399,golgi-associated PDZ and coiled-coil motif containing,462aa) | g.6:117900139T>C,c.374A>G,p.Q125R |