| 基因名 | 突变 |
|---|---|
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100865836G>A,c.10294G>A,p.G3432R |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100861113A>T,c.10127A>T,p.N3376I |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100861110C>T,c.10124C>T,p.T3375I |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100847941T>C,c.9992T>C,p.I3331T |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100844858C>T,c.9667C>T,p.R3223W |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100844615A>G,c.9424A>G,p.S3142G |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100833540A>G,c.9088A>G,p.I3030V |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100832259A>G,c.8978A>G,p.N2993S |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100831746G>A,c.8803G>A,p.E2935K |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100831065C>T,c.8645C>T,p.P2882L |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100830698C>A,c.8456C>A,p.S2819Y |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100829964G>A,c.8369G>A,p.G2790E |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100829841A>G,c.8246A>G,p.Y2749C |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100796564G>A,c.7876G>A,p.E2626K |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100791179G>A,c.7774G>A,p.V2592M |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100791158G>A,c.7753G>A,p.E2585K |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100791156T>C,c.7751T>C,p.V2584A |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100733202G>A,c.7052G>A,p.R2351Q |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100654579A>G,c.5836A>G,p.T1946A |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100654319C>T,c.5576C>T,p.S1859L |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100520120G>A,c.4280G>A,p.C1427Y |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100520087G>A,c.4247G>A,p.R1416Q |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100493911A>G,c.3751A>G,p.T1251A |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100454824G>A,c.3406G>A,p.E1136K |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100454804A>G,c.3386A>G,p.K1129R |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100454781A>G,c.3363A>G,p.I1121M |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100443885C>T,c.3203C>T,p.T1068I |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100287482G>A,c.2824G>A,p.G942S |