| 基因名 | 突变 |
|---|---|
| RABEPK(NM_005833,Rab9 effector protein with kelch motifs,372aa) | g.9:127982839C>A,c.386C>A,p.P129Q |
| RABEPK(NM_005833,Rab9 effector protein with kelch motifs,372aa) | g.9:127975735C>T,c.298C>T,p.R100C |
| RABEPK(NM_005833,Rab9 effector protein with kelch motifs,372aa) | g.9:127975721C>G,c.284C>G,p.S95C |
| RABEPK(NM_005833,Rab9 effector protein with kelch motifs,372aa) | g.9:127975693C>T,c.256C>T,p.R86W |
| RABEPK(NM_005833,Rab9 effector protein with kelch motifs,372aa) | g.9:127975654C>T,c.217C>T,p.H73Y |
| RABEPK(NM_005833,Rab9 effector protein with kelch motifs,372aa) | g.9:127965309T>A,c.17T>A,p.V6D |
| RABEP2(NM_024816,rabaptin, RAB GTPase binding effector protein 2,569aa) | g.16:28936427C>A,c.58G>T,p.A20S |
| RABEP2(NM_024816,rabaptin, RAB GTPase binding effector protein 2,569aa) | g.16:28931252C>T,c.287G>A,p.S96N |
| RABEP2(NM_024816,rabaptin, RAB GTPase binding effector protein 2,569aa) | g.16:28931216C>T,c.323G>A,p.R108Q |
| RABEP2(NM_024816,rabaptin, RAB GTPase binding effector protein 2,569aa) | g.16:28926097C>G,c.439G>C,p.E147Q |
| RABEP2(NM_024816,rabaptin, RAB GTPase binding effector protein 2,569aa) | g.16:28926090G>A,c.446C>T,p.S149L |
| RABEP2(NM_024816,rabaptin, RAB GTPase binding effector protein 2,569aa) | g.16:28925850G>A,c.601C>T,p.R201W |
| RABEP2(NM_024816,rabaptin, RAB GTPase binding effector protein 2,569aa) | g.16:28922452C>T,c.943G>A,p.E315K |
| RABEP2(NM_024816,rabaptin, RAB GTPase binding effector protein 2,569aa) | g.16:28922259T>A,c.1039A>T,p.T347S |
| RABEP2(NM_024816,rabaptin, RAB GTPase binding effector protein 2,569aa) | g.16:28917048G>A,c.1468C>T,p.R490W |
| RABEP2(NM_024816,rabaptin, RAB GTPase binding effector protein 2,569aa) | g.16:28916292G>A,c.1682C>T,p.T561M |
| RABEP1(NM_004703,rabaptin, RAB GTPase binding effector protein 1,862aa) | g.17:5286887T>G,c.*346-2T>G,p.3'UTRAcceptor |
| RABEP1(NM_004703,rabaptin, RAB GTPase binding effector protein 1,862aa) | g.17:5286862_5286886del,c.*345+1del,p.3'UTRDonordel |
| RABEP1(NM_004703,rabaptin, RAB GTPase binding effector protein 1,862aa) | g.17:5286462C>T,c.2533C>T,p.R845W |
| RABEP1(NM_004703,rabaptin, RAB GTPase binding effector protein 1,862aa) | g.17:5271763G>C,c.1884G>C,p.M628I |
| RABEP1(NM_004703,rabaptin, RAB GTPase binding effector protein 1,862aa) | g.17:5266301C>T,c.1658C>T,p.T553M |
| RABEP1(NM_004703,rabaptin, RAB GTPase binding effector protein 1,862aa) | g.17:5212042C>T,c.88C>T,p.R30C |
| RABEP1(NM_004703,rabaptin, RAB GTPase binding effector protein 1,862aa) | g.17:5211998A>G,c.44A>G,p.Q15R |
| RABAC1(NM_006423,Rab acceptor 1 (prenylated),185aa) | g.19:42462898G>C,c.259C>G,p.L87V |
| RAB9B(NM_016370,RAB9B, member RAS oncogene family,201aa) | g.X:103080450C>T,c.265G>A,p.V89M |
| RAB7L1(NM_001135663,RAB7, member RAS oncogene family-like 1,179aa) | g.1:205740668G>C,c.238C>G,p.Q80E |
| RAB7L1(NM_001135663,RAB7, member RAS oncogene family-like 1,179aa) | g.1:205739939C>T,c.350G>A,p.R117Q |
| RAB6C(NM_032144,RAB6C, member RAS oncogene family,254aa) | g.2:130738367G>A,c.679G>A,p.D227N |