| 基因名 | 突变 |
|---|---|
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100205255G>A,c.2485G>A,p.A829T |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100182333G>C,c.2275G>C,p.V759L |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100155375T>C,c.1825T>C,p.Y609H |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100155318G>A,c.1768G>A,p.A590T |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100146942G>C,c.1289G>C,p.G430A |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100146901G>T,c.1248G>T,p.Q416H |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100133554G>A,c.1087G>A,p.E363K |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100123356A>G,c.611A>G,p.N204S |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100108613C>T,c.365C>T,p.P122L |
| VPS13B(NM_017890,vacuolar protein sorting 13 homolog B (yeast),4022aa) | g.8:100108606A>G,c.358A>G,p.I120V |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:80030912C>T,c.9515C>T,p.P3172L |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:80020874C>A,c.9370C>A,p.H3124N |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:80020818T>A,c.9314T>A,p.L3105H |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:80018236C>T,c.9274C>T,p.R3092C |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79981667T>G,c.8350T>G,p.S2784A |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79968362T>C,c.7457T>C,p.I2486T |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79968361A>G,c.7456A>G,p.I2486V |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79959138C>T,c.7096C>T,p.P2366S |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79955345G>A,c.6905G>A,p.S2302N |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79955120G>T,c.6801G>T,p.E2267D |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79938069G>A,c.5917G>A,p.V1973I |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79938036C>T,c.5884C>T,p.R1962C |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79936495T>G,c.5663T>G,p.I1888S |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79936426C>T,c.5594C>T,p.T1865I |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79933421C>T,c.5227C>T,p.P1743S |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79933241A>G,c.5047A>G,p.T1683A |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79932585G>A,c.4927G>A,p.D1643N |
| VPS13A(NM_033305,vacuolar protein sorting 13 homolog A (S. cerevisiae),3174aa) | g.9:79931219A>G,c.4760A>G,p.Y1587C |