| 基因名 | 突变 |
|---|---|
| VRK3(NM_016440,vaccinia related kinase 3,474aa) | g.19:50491738G>A,c.1108C>T,p.R370C |
| VRK3(NM_016440,vaccinia related kinase 3,474aa) | g.19:50491735T>C,c.1111A>G,p.S371G |
| VRK3(NM_016440,vaccinia related kinase 3,474aa) | g.19:50482394C>T,c.1382G>A,p.R461H |
| VRK2(NM_001130483,vaccinia related kinase 2,396aa) | g.2:58373581T>C,c.1154T>C,p.I385T |
| VRK2(NM_001130483,vaccinia related kinase 2,396aa) | g.2:58359041G>A,c.775G>A,p.A259T |
| VRK2(NM_001130483,vaccinia related kinase 2,396aa) | g.2:58316814A>G,c.499A>G,p.I167V |
| VRK2(NM_001130483,vaccinia related kinase 2,396aa) | g.2:58316786A>G,c.471A>G,p.I157M |
| VRK2(NM_001130483,vaccinia related kinase 2,396aa) | g.2:58313491C>T,c.274C>T,p.R92C |
| VRK2(NM_001130483,vaccinia related kinase 2,396aa) | g.2:58276070T>C,c.104T>C,p.I35T |
| VRK2(NM_001130483,vaccinia related kinase 2,396aa) | g.2:58276024G>A,c.58G>A,p.V20I |
| VRK1(NM_003384,vaccinia related kinase 1,396aa) | g.14:97322892G>T,c.858G>T,p.M286I |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89783155G>A,c.251C>T,p.S84L |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89782976C>T,c.325G>A,p.G109S |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89782895C>A,c.406G>T,p.G136W |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89778932_89778933insG,c.544-2insC,p.182Acceptorins |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89778906T>C,c.568A>G,p.M190V |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89777123C>T,c.1129G>A,p.D377N |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89777108C>A,c.1144G>T,p.D382Y |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89777078G>A,c.1174C>T,p.R392W |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89776279C>T,c.1294G>A,p.G432S |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89775700G>A,c.1532C>T,p.A511V |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89775278C>T,c.1684G>A,p.A562T |
| VPS9D1(NM_004913,VPS9 domain containing 1,631aa) | g.16:89774309C>T,c.1856G>A,p.S619N |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184769803C>A,c.4277C>A,p.T1426N |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184766325G>A,c.4115G>A,p.R1372H |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184766301T>C,c.4091T>C,p.I1364T |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184714255C>T,c.3802C>T,p.R1268C |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184700426C>T,c.3493C>T,p.H1165Y |