| 基因名 | 突变 |
|---|---|
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184682325G>A,c.3253G>A,p.A1085T |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184675290G>A,c.3164G>A,p.R1055H |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184675283T>A,c.3157T>A,p.C1053S |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184675179A>G,c.3053A>G,p.N1018S |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184654109A>C,c.2974A>C,p.I992L |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184654077C>T,c.2942C>T,p.A981V |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184648315G>A,c.2857G>A,p.E953K |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184612670C>T,c.1961C>T,p.A654V |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184603910G>A,c.1747G>A,p.V583I |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184550501A>G,c.247A>G,p.I83V |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184542548A>G,c.128A>G,p.K43R |
| VPS8(NM_001009921,vacuolar protein sorting 8 homolog (S. cerevisiae),1428aa) | g.3:184542480A>T,c.60A>T,p.E20D |
| VPS72(NM_001271087,vacuolar protein sorting 72 homolog (S. cerevisiae),375aa) | g.1:151162597T>C,c.1A>G,p.M1V |
| VPS72(NM_001271087,vacuolar protein sorting 72 homolog (S. cerevisiae),375aa) | g.1:151162488del,c.110del,p.37fs |
| VPS72(NM_001271087,vacuolar protein sorting 72 homolog (S. cerevisiae),375aa) | g.1:151149490G>A,c.758C>T,p.S253L |
| VPS72(NM_001271087,vacuolar protein sorting 72 homolog (S. cerevisiae),375aa) | g.1:151149487A>G,c.761T>C,p.V254A |
| VPS72(NM_001271087,vacuolar protein sorting 72 homolog (S. cerevisiae),375aa) | g.1:151149452C>T,c.796G>A,p.V266I |
| VPS72(NM_001271087,vacuolar protein sorting 72 homolog (S. cerevisiae),375aa) | g.1:151149392C>T,c.856G>A,p.E286K |
| VPS54(NM_016516,vacuolar protein sorting 54 homolog (S. cerevisiae),977aa) | g.2:64211063A>G,c.71T>C,p.V24A |
| VPS54(NM_016516,vacuolar protein sorting 54 homolog (S. cerevisiae),977aa) | g.2:64208857T>C,c.301A>G,p.T101A |
| VPS54(NM_016516,vacuolar protein sorting 54 homolog (S. cerevisiae),977aa) | g.2:64199317G>A,c.440C>T,p.T147I |
| VPS54(NM_016516,vacuolar protein sorting 54 homolog (S. cerevisiae),977aa) | g.2:64193004G>A,c.589C>T,p.R197C |
| VPS54(NM_016516,vacuolar protein sorting 54 homolog (S. cerevisiae),977aa) | g.2:64192997G>A,c.596C>T,p.A199V |
| VPS54(NM_016516,vacuolar protein sorting 54 homolog (S. cerevisiae),977aa) | g.2:64176230T>C,c.1078A>G,p.T360A |
| VPS54(NM_016516,vacuolar protein sorting 54 homolog (S. cerevisiae),977aa) | g.2:64160864G>C,c.1682C>G,p.S561C |
| VPS54(NM_016516,vacuolar protein sorting 54 homolog (S. cerevisiae),977aa) | g.2:64160846T>C,c.1700A>G,p.H567R |
| VPS54(NM_016516,vacuolar protein sorting 54 homolog (S. cerevisiae),977aa) | g.2:64124722C>A,c.2736G>T,p.M912I |
| VPS53(NM_001128159,vacuolar protein sorting 53 homolog (S. cerevisiae),832aa) | g.17:602613G>A,c.176C>T,p.A59V |