| 基因名 | 突变 |
|---|---|
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12321963G>A,c.1420G>A,p.E474K |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12321134A>G,c.1342A>G,p.T448A |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12320753G>A,c.1114G>A,p.E372K |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12318057G>A,c.1007G>A,p.R336H |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12316498C>T,c.778C>T,p.R260W |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12316393G>A,c.673G>A,p.A225T |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12313827A>G,c.613A>G,p.I205V |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12309291A>C,c.459A>C,p.Q153H |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12304654A>G,c.427A>G,p.R143G |
| VPS13D(NM_015378,vacuolar protein sorting 13 homolog D (S. cerevisiae),4388aa) | g.1:12294375G>A,c.52G>A,p.V18I |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62320613T>C,c.392A>G,p.H131R |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62316036G>A,c.457C>T,p.R153C |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62316035C>T,c.458G>A,p.R153H |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62315987C>T,c.506G>A,p.R169H |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62315719T>C,c.515A>G,p.D172G |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62312700G>A,c.662C>T,p.T221I |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62305254G>A,c.809C>T,p.S270L |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62304323G>T,c.866C>A,p.P289H |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62299668C>T,c.1129G>A,p.A377T |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62299665T>C,c.1132A>G,p.I378V |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62283295T>C,c.1484-2A>G,p.495Acceptor |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62276067G>T,c.1866C>A,p.D622E |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62270845T>C,c.2270A>G,p.Q757R |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62270844T>G,c.2271A>C,p.Q757H |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62269392G>T,c.2297C>A,p.T766N |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62269289T>G,c.2400A>C,p.R800S |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62261612T>C,c.2797A>G,p.T933A |
| VPS13C(NM_001018088,vacuolar protein sorting 13 homolog C (S. cerevisiae),3628aa) | g.15:62259637C>T,c.2921G>A,p.R974K |