| 基因名 | 突变 |
|---|---|
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102778932C>T,c.971G>A,p.S324N |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102778636C>T,c.1267G>A,p.A423T |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102777967A>G,c.1411T>C,p.F471L |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102775529C>T,c.1613G>A,p.G538E |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102770523C>T,c.2123G>A,p.R708H |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102770514T>C,c.2132A>G,p.H711R |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102770502G>A,c.2144C>T,p.P715L |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102770293_102770294insGCTGCG,c.2352_2353insCGCAGC,p.784_785ins2aa |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102770278T>C,c.2368A>G,p.K790E |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102770082T>G,c.2564A>C,p.N855T |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102768575C>G,c.2751G>C,p.E917D |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102768234C>T,c.3092G>A,p.R1031H |
| PDZD4(NM_032512,PDZ domain containing 4,769aa) | g.X:153073867T>G,c.244A>C,p.M82L |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119059877G>A,c.1451G>A,p.R484Q |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119059876C>T,c.1450C>T,p.R484W |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119059504C>A,c.1215C>A,p.Y405X |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119059463G>A,c.1174G>A,p.V392M |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119059404G>A,c.1115G>A,p.R372Q |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119059352C>T,c.1063C>T,p.R355C |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119059241C>T,c.1040C>T,p.A347V |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119059199G>C,c.998G>C,p.G333A |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119058835G>C,c.844G>C,p.G282R |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119058712C>T,c.721C>T,p.R241C |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119058667C>A,c.676C>A,p.Q226K |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119058356G>T,c.604G>T,p.E202X |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119058114C>T,c.466C>T,p.R156W |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119058005del,c.357del,p.119fs |
| PDZD3(NM_001168468,PDZ domain containing 3,505aa) | g.11:119057326G>C,c.257G>C,p.R86P |