| 基因名 | 突变 |
|---|---|
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62256948T>G,c.3164A>C,p.E1055A |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62254989T>C,c.3394A>G,p.I1132V |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62254658G>A,c.3515C>T,p.T1172I |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62253983C>T,c.3713G>A,p.R1238H |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62253975T>G,c.3721A>C,p.I1241L |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62253953G>A,c.3743C>T,p.P1248L |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62253791T>C,c.3905A>G,p.Y1302C |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62251742T>C,c.3961A>G,p.I1321V |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62246670T>G,c.4249A>C,p.I1417L |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62243197T>C,c.4483A>G,p.I1495V |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62242588G>C,c.4565C>G,p.T1522S |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62239510_62239511insA,c.4760-2insT,p.1587Acceptorins |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62238002G>A,c.5060C>T,p.A1687V |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62232925G>A,c.5522C>T,p.S1841F |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62226423T>G,c.5863A>C,p.N1955H |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62223362T>C,c.5965A>G,p.M1989V |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62223303C>G,c.6024G>C,p.E2008D |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62221858G>C,c.6128C>G,p.A2043G |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62221745T>A,c.6241A>T,p.I2081F |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62221739G>A,c.6247C>T,p.P2083S |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62219337G>A,c.6469C>T,p.L2157F |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62217710G>A,c.6554C>T,p.T2185M |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62214738A>C,c.6833T>G,p.V2278G |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62214726G>A,c.6845C>T,p.S2282F |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62214622C>A,c.6949G>T,p.A2317S |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62214607C>T,c.6964G>A,p.V2322M |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62212770T>C,c.7139A>G,p.H2380R |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62212467C>T,c.7276G>A,p.V2426I |