| 基因名 | 突变 |
|---|---|
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12409403A>G,c.9403A>G,p.M3135V |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12405522del,c.8977del,p.2993fs |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12401932A>T,c.8722A>T,p.T2908S |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12401897C>T,c.8687C>T,p.T2896M |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12401857C>T,c.8647C>T,p.R2883C |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12398297T>G,c.8561T>G,p.L2854R |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12395830G>C,c.8497G>C,p.A2833P |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12395765A>G,c.8432A>G,p.Q2811R |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12393403A>G,c.8408A>G,p.N2803S |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12378274C>T,c.7294C>T,p.R2432C |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12378223C>T,c.7243C>T,p.H2415Y |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12371948C>A,c.6901C>A,p.P2301T |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12364649T>G,c.6303T>G,p.H2101Q |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12351082T>C,c.5753T>C,p.I1918T |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12348332_12348333insA,c.5687_5688insA,p.1896fs |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12343686G>A,c.5527G>A,p.A1843T |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12343493T>A,c.5334T>A,p.S1778R |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12343459C>T,c.5300C>T,p.T1767I |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12342990G>A,c.4831G>A,p.E1611K |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12339619A>T,c.4514A>T,p.E1505V |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12337888G>A,c.4243G>A,p.D1415N |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12336917G>A,c.3272G>A,p.C1091Y |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12336785C>T,c.3140C>T,p.P1047L |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12336134G>A,c.2489G>A,p.R830Q |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12336098C>T,c.2453C>T,p.S818L |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12336034G>A,c.2389G>A,p.V797I |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12335966C>T,c.2321C>T,p.T774I |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12333084C>T,c.2128C>T,p.R710W |