| 基因名 | 突变 |
|---|---|
| VPS53(NM_001128159,vacuolar protein sorting 53 homolog (S. cerevisiae),832aa) | g.17:600663G>A,c.280C>T,p.R94W |
| VPS53(NM_001128159,vacuolar protein sorting 53 homolog (S. cerevisiae),832aa) | g.17:530495T>C,c.893A>G,p.Y298C |
| VPS53(NM_001128159,vacuolar protein sorting 53 homolog (S. cerevisiae),832aa) | g.17:526907G>T,c.982C>A,p.L328I |
| VPS53(NM_001128159,vacuolar protein sorting 53 homolog (S. cerevisiae),832aa) | g.17:526882G>A,c.1007C>T,p.A336V |
| VPS53(NM_001128159,vacuolar protein sorting 53 homolog (S. cerevisiae),832aa) | g.17:505129A>C,c.1124T>G,p.L375R |
| VPS53(NM_001128159,vacuolar protein sorting 53 homolog (S. cerevisiae),832aa) | g.17:505105T>C,c.1148A>G,p.N383S |
| VPS53(NM_001128159,vacuolar protein sorting 53 homolog (S. cerevisiae),832aa) | g.17:465956A>G,c.1343T>C,p.V448A |
| VPS53(NM_001128159,vacuolar protein sorting 53 homolog (S. cerevisiae),832aa) | g.17:436105T>C,c.2062A>G,p.I688V |
| VPS52(NM_022553,vacuolar protein sorting 52 homolog (S. cerevisiae),723aa) | g.6:33234978C>T,c.1112G>A,p.R371H |
| VPS52(NM_022553,vacuolar protein sorting 52 homolog (S. cerevisiae),723aa) | g.6:33219675A>G,c.1868T>C,p.I623T |
| VPS52(NM_022553,vacuolar protein sorting 52 homolog (S. cerevisiae),723aa) | g.6:33219335C>T,c.1985G>A,p.R662Q |
| VPS51(NM_013265,vacuolar protein sorting 51 homolog (S. cerevisiae),782aa) | g.11:64878234G>C,c.2069G>C,p.S690T |
| VPS51(NM_013265,vacuolar protein sorting 51 homolog (S. cerevisiae),782aa) | g.11:64877218G>T,c.1701G>T,p.E567D |
| VPS51(NM_013265,vacuolar protein sorting 51 homolog (S. cerevisiae),782aa) | g.11:64876923A>G,c.1615A>G,p.I539V |
| VPS51(NM_013265,vacuolar protein sorting 51 homolog (S. cerevisiae),782aa) | g.11:64875394G>A,c.625G>A,p.V209M |
| VPS4B(NM_004869,vacuolar protein sorting 4 homolog B (S. cerevisiae),444aa) | g.18:61077645G>C,c.174C>G,p.I58M |
| VPS4B(NM_004869,vacuolar protein sorting 4 homolog B (S. cerevisiae),444aa) | g.18:61060766C>T,c.1109G>A,p.R370Q |
| VPS4B(NM_004869,vacuolar protein sorting 4 homolog B (S. cerevisiae),444aa) | g.18:61060722A>G,c.1153T>C,p.S385P |
| VPS4A(NM_013245,vacuolar protein sorting 4 homolog A (S. cerevisiae),437aa) | g.16:69356562G>A,c.1171G>A,p.D391N |
| VPS4A(NM_013245,vacuolar protein sorting 4 homolog A (S. cerevisiae),437aa) | g.16:69355040A>G,c.938A>G,p.N313S |
| VPS4A(NM_013245,vacuolar protein sorting 4 homolog A (S. cerevisiae),437aa) | g.16:69355000G>A,c.898G>A,p.A300T |
| VPS4A(NM_013245,vacuolar protein sorting 4 homolog A (S. cerevisiae),437aa) | g.16:69350175G>A,c.181G>A,p.V61M |
| VPS45(NM_007259,vacuolar protein sorting 45 homolog (S. cerevisiae),570aa) | g.1:150064116G>A,c.1190G>A,p.R397Q |
| VPS45(NM_007259,vacuolar protein sorting 45 homolog (S. cerevisiae),570aa) | g.1:150049795G>T,c.625G>T,p.V209F |
| VPS45(NM_007259,vacuolar protein sorting 45 homolog (S. cerevisiae),570aa) | g.1:150044250T>G,c.246T>G,p.I82M |
| VPS41(NM_014396,vacuolar protein sorting 41 homolog (S. cerevisiae),854aa) | g.7:38908759G>C,c.155C>G,p.T52R |
| VPS41(NM_014396,vacuolar protein sorting 41 homolog (S. cerevisiae),854aa) | g.7:38835102T>C,c.680A>G,p.N227S |
| VPS41(NM_014396,vacuolar protein sorting 41 homolog (S. cerevisiae),854aa) | g.7:38810854C>T,c.1129G>A,p.E377K |