| 基因名 | 突变 |
|---|---|
| VPS37B(NM_024667,vacuolar protein sorting 37 homolog B (S. cerevisiae),285aa) | g.12:123351904C>T,c.617G>A,p.R206H |
| VPS37B(NM_024667,vacuolar protein sorting 37 homolog B (S. cerevisiae),285aa) | g.12:123351883G>A,c.638C>T,p.P213L |
| VPS37B(NM_024667,vacuolar protein sorting 37 homolog B (S. cerevisiae),285aa) | g.12:123351687G>T,c.834C>A,p.H278Q |
| VPS37A(NM_152415,vacuolar protein sorting 37 homolog A (S. cerevisiae),397aa) | g.8:17143910C>T,c.1168C>T,p.H390Y |
| VPS37A(NM_152415,vacuolar protein sorting 37 homolog A (S. cerevisiae),397aa) | g.8:17137944C>G,c.961C>G,p.L321V |
| VPS37A(NM_152415,vacuolar protein sorting 37 homolog A (S. cerevisiae),397aa) | g.8:17133963C>A,c.700C>A,p.L234I |
| VPS37A(NM_152415,vacuolar protein sorting 37 homolog A (S. cerevisiae),397aa) | g.8:17132462A>G,c.637A>G,p.I213V |
| VPS37A(NM_152415,vacuolar protein sorting 37 homolog A (S. cerevisiae),397aa) | g.8:17132441A>T,c.616A>T,p.I206F |
| VPS36(NM_001282169,vacuolar protein sorting 36 homolog (S. cerevisiae),328aa) | g.13:53013251G>A,c.44C>T,p.A15V |
| VPS35(NM_018206,vacuolar protein sorting 35 homolog (S. cerevisiae),796aa) | g.16:46695719T>G,c.2122A>C,p.N708H |
| VPS35(NM_018206,vacuolar protein sorting 35 homolog (S. cerevisiae),796aa) | g.16:46694455G>T,c.2320C>A,p.L774M |
| VPS33B(NM_018668,vacuolar protein sorting 33 homolog B (yeast),617aa) | g.15:91549268C>T,c.874G>A,p.E292K |
| VPS33B(NM_018668,vacuolar protein sorting 33 homolog B (yeast),617aa) | g.15:91548307A>G,c.1148T>C,p.I383T |
| VPS33B(NM_018668,vacuolar protein sorting 33 homolog B (yeast),617aa) | g.15:91543761C>T,c.1540G>A,p.G514S |
| VPS33A(NM_022916,vacuolar protein sorting 33 homolog A (S. cerevisiae),596aa) | g.12:122735607C>T,c.523G>A,p.A175T |
| VPS33A(NM_022916,vacuolar protein sorting 33 homolog A (S. cerevisiae),596aa) | g.12:122734427T>G,c.766A>C,p.I256L |
| VPS28(NM_183057,vacuolar protein sorting 28 homolog (S. cerevisiae),233aa) | g.8:145651155C>G,c.105G>C,p.K35N |
| VPS28(NM_183057,vacuolar protein sorting 28 homolog (S. cerevisiae),233aa) | g.8:145649365G>A,c.607C>T,p.R203W |
| VPS26B(NM_052875,vacuolar protein sorting 26 homolog B (S. pombe),336aa) | g.11:134095044G>C,c.28G>C,p.V10L |
| VPS26A(NM_004896,vacuolar protein sorting 26 homolog A (S. pombe),327aa) | g.10:70916913G>A,c.380G>A,p.R127H |
| VPS26A(NM_004896,vacuolar protein sorting 26 homolog A (S. pombe),327aa) | g.10:70916897A>T,c.364A>T,p.I122F |
| VPS25(NM_032353,vacuolar protein sorting 25 homolog (S. cerevisiae),176aa) | g.17:40925831A>G,c.134A>G,p.K45R |
| VPS18(NM_020857,vacuolar protein sorting 18 homolog (S. cerevisiae),973aa) | g.15:41195483G>A,c.2866G>A,p.D956N |
| VPS18(NM_020857,vacuolar protein sorting 18 homolog (S. cerevisiae),973aa) | g.15:41195357C>T,c.2740C>T,p.R914W |
| VPS18(NM_020857,vacuolar protein sorting 18 homolog (S. cerevisiae),973aa) | g.15:41194872G>A,c.2255G>A,p.R752H |
| VPS18(NM_020857,vacuolar protein sorting 18 homolog (S. cerevisiae),973aa) | g.15:41192839G>A,c.1823G>A,p.R608H |
| VPS18(NM_020857,vacuolar protein sorting 18 homolog (S. cerevisiae),973aa) | g.15:41192719G>T,c.1703G>T,p.R568L |
| VPS18(NM_020857,vacuolar protein sorting 18 homolog (S. cerevisiae),973aa) | g.15:41192067G>A,c.1051G>A,p.G351R |