| 基因名 | 突变 |
|---|---|
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62212298C>T,c.7445G>A,p.R2482H |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62211640C>T,c.7486G>A,p.G2496R |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62211502G>A,c.7624C>T,p.R2542C |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62209734C>T,c.7861G>A,p.V2621I |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62208089G>A,c.8188C>T,p.R2730C |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62208031G>A,c.8246C>T,p.T2749M |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62207924G>A,c.8353C>T,p.R2785C |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62207911A>G,c.8366T>C,p.I2789T |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62204043G>A,c.8711C>T,p.S2904L |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62202482C>T,c.8738G>A,p.S2913N |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62199479T>A,c.9089A>T,p.E3030V |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62182533G>A,c.9172C>T,p.R3058C |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62174893G>C,c.9526C>G,p.R3176G |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62174892C>T,c.9527G>A,p.R3176H |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62174003T>C,c.9649A>G,p.M3217V |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62172849T>C,c.9961A>G,p.I3321V |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62172824T>C,c.9986A>G,p.H3329R |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62165576C>T,c.10447G>A,p.G3483S |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62160874C>T,c.10847G>A,p.G3616D |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100887797A>T,c.11972A>T,p.K3991I |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100887784C>G,c.11959C>G,p.P3987A |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100887727_100887728insC,c.11902_11903insC,p.3968fs |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100874154G>A,c.11270G>A,p.R3757Q |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100874030G>A,c.11146G>A,p.A3716T |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100866463G>A,c.10921G>A,p.A3641T |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100866298C>T,c.10756C>T,p.R3586W |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100866229G>A,c.10687G>A,p.G3563R |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100865875G>A,c.10333G>A,p.V3445M |