| 基因名 | 突变 |
|---|---|
| LRCH1(NM_001164211,leucine-rich repeats and calponin homology (CH) domain containing 1,763aa) | g.13:47243196C>G,c.484C>G,p.L162V |
| LRCH1(NM_001164211,leucine-rich repeats and calponin homology (CH) domain containing 1,763aa) | g.13:47243181G>A,c.469G>A,p.A157T |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151935743C>T,c.52G>A,p.G18R |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151935622C>G,c.173G>C,p.G58A |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151829580T>C,c.1399A>G,p.M467V |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151821354A>G,c.1771T>C,p.Y591H |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151793903T>C,c.2170A>G,p.I724V |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151792589T>G,c.2275A>C,p.M759L |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151791710C>A,c.2416G>T,p.D806Y |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151791682T>C,c.2444A>G,p.N815S |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151789453T>C,c.2454A>G,p.I818M |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151788861G>A,c.2728C>T,p.R910C |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151773798C>T,c.3064G>A,p.E1022K |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151773700T>C,c.3162A>G,p.I1054M |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151773593G>C,c.3269C>G,p.A1090G |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151773363T>C,c.3499A>G,p.T1167A |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151773294T>C,c.3568A>G,p.M1190V |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151773173C>T,c.3689G>A,p.G1230D |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151773098C>G,c.3764G>C,p.R1255T |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151772021T>C,c.3859A>G,p.I1287V |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151770632T>C,c.4100A>G,p.N1367S |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151770104G>T,c.4205C>A,p.A1402D |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151765814G>A,c.4457C>T,p.A1486V |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151749473T>C,c.5030A>G,p.N1677S |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151749354C>T,c.5149G>A,p.V1717M |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151656420G>A,c.5744C>T,p.A1915V |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151520216G>A,c.5989C>T,p.R1997C |
| LRBA(NM_001199282,LPS-responsive vesicle trafficking, beach and anchor containing,2851aa) | g.4:151511895C>T,c.6163G>A,p.V2055M |