| 基因名 | 突变 |
|---|---|
| RABL3(NM_173825,RAB, member of RAS oncogene family-like 3,236aa) | g.3:120413055C>T,c.551G>A,p.R184Q |
| RABL2B(NM_001130921,RAB, member of RAS oncogene family-like 2B,229aa) | g.22:51208383C>T,c.359G>A,p.R120Q |
| RABL2A(NM_013412,RAB, member of RAS oncogene family-like 2A,228aa) | g.2:114399678C>A,c.659C>A,p.S220X |
| RABL2A(NM_013412,RAB, member of RAS oncogene family-like 2A,228aa) | g.2:114398528C>T,c.355C>T,p.L119F |
| RABL2A(NM_013412,RAB, member of RAS oncogene family-like 2A,228aa) | g.2:114392655G>A,c.245G>A,p.R82Q |
| RABL2A(NM_013412,RAB, member of RAS oncogene family-like 2A,228aa) | g.2:114392641del,c.231del,p.77fs |
| RABGGTB(NM_004582,Rab geranylgeranyltransferase, beta subunit,331aa) | g.1:76259854G>A,c.791G>A,p.R264H |
| RABGGTB(NM_004582,Rab geranylgeranyltransferase, beta subunit,331aa) | g.1:76255660T>G,c.333T>G,p.I111M |
| RABGGTB(NM_004582,Rab geranylgeranyltransferase, beta subunit,331aa) | g.1:76255030A>G,c.298A>G,p.S100G |
| RABGGTA(NM_004581,Rab geranylgeranyltransferase, alpha subunit,567aa) | g.14:24739215T>C,c.371A>G,p.N124S |
| RABGGTA(NM_004581,Rab geranylgeranyltransferase, alpha subunit,567aa) | g.14:24738856C>T,c.472G>A,p.V158M |
| RABGGTA(NM_004581,Rab geranylgeranyltransferase, alpha subunit,567aa) | g.14:24738724G>A,c.604C>T,p.R202C |
| RABGGTA(NM_004581,Rab geranylgeranyltransferase, alpha subunit,567aa) | g.14:24738127C>T,c.788G>A,p.R263Q |
| RABGGTA(NM_004581,Rab geranylgeranyltransferase, alpha subunit,567aa) | g.14:24737786G>C,c.940C>G,p.P314A |
| RABGGTA(NM_004581,Rab geranylgeranyltransferase, alpha subunit,567aa) | g.14:24737615C>T,c.1018G>A,p.G340S |
| RABGGTA(NM_004581,Rab geranylgeranyltransferase, alpha subunit,567aa) | g.14:24736961T>C,c.1258A>G,p.T420A |
| RABGGTA(NM_004581,Rab geranylgeranyltransferase, alpha subunit,567aa) | g.14:24736943G>A,c.1276C>T,p.R426C |
| RABGEF1(NM_014504,RAB guanine nucleotide exchange factor (GEF) 1,491aa) | g.7:66274203A>G,c.1408A>G,p.I470V |
| RABGEF1(NM_014504,RAB guanine nucleotide exchange factor (GEF) 1,491aa) | g.7:66270205A>G,c.899A>G,p.N300S |
| RABGEF1(NM_014504,RAB guanine nucleotide exchange factor (GEF) 1,491aa) | g.7:66240351G>T,c.317G>T,p.S106I |
| RABGAP1(NM_012197,RAB GTPase activating protein 1,1069aa) | g.9:125838924T>A,c.2307T>A,p.D769E |
| RABGAP1(NM_012197,RAB GTPase activating protein 1,1069aa) | g.9:125782737A>G,c.1793A>G,p.K598R |
| RABGAP1(NM_012197,RAB GTPase activating protein 1,1069aa) | g.9:125772781_125772783del,c.1523_1525del,p.508_509del |
| RABGAP1(NM_012197,RAB GTPase activating protein 1,1069aa) | g.9:125752407G>A,c.838G>A,p.A280T |
| RABGAP1L(NM_001243765,RAB GTPase activating protein 1-like,370aa) | g.1:174959116A>C,c.1091A>C,p.Q364P |
| RABEPK(NM_005833,Rab9 effector protein with kelch motifs,372aa) | g.9:127996237G>C,c.1097G>C,p.C366S |
| RABEPK(NM_005833,Rab9 effector protein with kelch motifs,372aa) | g.9:127995995T>G,c.855T>G,p.F285L |
| RABEPK(NM_005833,Rab9 effector protein with kelch motifs,372aa) | g.9:127982946G>A,c.493G>A,p.V165M |