| 基因名 | 突变 |
|---|---|
| PHLDB2(NM_001134438,pleckstrin homology-like domain, family B, member 2,1253aa) | g.3:111664191A>G,c.2474A>G,p.N825S |
| PHLDB2(NM_001134438,pleckstrin homology-like domain, family B, member 2,1253aa) | g.3:111637980G>A,c.1781G>A,p.R594Q |
| PHLDB2(NM_001134438,pleckstrin homology-like domain, family B, member 2,1253aa) | g.3:111637931A>G,c.1732A>G,p.I578V |
| PHLDB2(NM_001134438,pleckstrin homology-like domain, family B, member 2,1253aa) | g.3:111604213G>A,c.1289G>A,p.R430Q |
| PHLDB2(NM_001134438,pleckstrin homology-like domain, family B, member 2,1253aa) | g.3:111603969T>C,c.1045T>C,p.C349R |
| PHLDB2(NM_001134438,pleckstrin homology-like domain, family B, member 2,1253aa) | g.3:111603901G>A,c.977G>A,p.S326N |
| PHLDB2(NM_001134438,pleckstrin homology-like domain, family B, member 2,1253aa) | g.3:111603848C>G,c.924C>G,p.S308R |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118527475G>A,c.4076G>A,p.R1359H |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118527420G>A,c.4021G>A,p.V1341I |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118526583G>A,c.3974G>A,p.R1325H |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118526582C>T,c.3973C>T,p.R1325C |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118518751G>A,c.3613G>A,p.V1205I |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118518685G>A,c.3547G>A,p.E1183K |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118516274G>A,c.3322G>A,p.A1108T |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118514542G>A,c.2902G>A,p.E968K |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118513078C>T,c.2843C>T,p.P948L |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118509676G>A,c.2603G>A,p.R868H |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118502708G>A,c.2179G>A,p.V727M |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118502670T>C,c.2141T>C,p.L714P |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118502116C>T,c.2020C>T,p.R674C |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118502012T>C,c.1916T>C,p.I639T |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118499077G>A,c.1538G>A,p.G513D |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118498885G>A,c.1346G>A,p.R449Q |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118498882G>A,c.1343G>A,p.R448Q |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118498804G>A,c.1265G>A,p.R422H |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118498780G>A,c.1241G>A,p.R414Q |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118498458C>T,c.919C>T,p.R307C |
| PHLDB1(NM_015157,pleckstrin homology-like domain, family B, member 1,1377aa) | g.11:118498387C>T,c.848C>T,p.P283L |