| 基因名 | 突变 |
|---|---|
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:162622197C>T,c.500G>A,p.S167N |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:162475167T>G,c.574A>C,p.M192L |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:162394367C>T,c.701G>A,p.R234Q |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:162206892T>C,c.783A>G,p.L261L |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:162206876A>G,c.799T>C,p.Y267H |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:162206859G>A,c.816C>T,p.L272L |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:162206852G>A,c.823C>T,p.R275W |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:162206827A>G,c.848T>C,p.L283P |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:161990401G>A,c.919C>T,p.L307L |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:161969969G>A,c.1000C>T,p.R334C |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:161807897G>A,c.1096C>T,p.R366W |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:161807855C>G,c.1138G>C,p.V380L |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:161781225C>T,c.1180G>A,p.D394N |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:161781201G>A,c.1204C>T,p.R402C |
| PARK2(NM_004562,parkinson protein 2, E3 ubiquitin protein ligase (parkin),465aa) | g.6:161771157T>G,c.1372A>C,p.M458L |
| PARG(NM_003631,poly (ADP-ribose) glycohydrolase,976aa) | g.10:51370994G>A,c.77C>T,p.S26L |
| PARG(NM_003631,poly (ADP-ribose) glycohydrolase,976aa) | g.10:51130658A>T,c.1513T>A,p.L505M |
| PARG(NM_003631,poly (ADP-ribose) glycohydrolase,976aa) | g.10:51123980T>C,c.1720A>G,p.I574V |
| PARG(NM_003631,poly (ADP-ribose) glycohydrolase,976aa) | g.10:51028256T>C,c.2731A>G,p.I911V |
| PARD6B(NM_032521,par-6 family cell polarity regulator beta,372aa) | g.20:49367014A>G,c.1108A>G,p.I370V |
| PARD6B(NM_032521,par-6 family cell polarity regulator beta,372aa) | g.20:49366958C>T,c.1052C>T,p.T351M |
| PARD6B(NM_032521,par-6 family cell polarity regulator beta,372aa) | g.20:49366743G>T,c.837G>T,p.Q279H |
| PARD6B(NM_032521,par-6 family cell polarity regulator beta,372aa) | g.20:49366715A>G,c.809A>G,p.D270G |
| PARD6B(NM_032521,par-6 family cell polarity regulator beta,372aa) | g.20:49366576T>A,c.670T>A,p.S224T |
| PARD6B(NM_032521,par-6 family cell polarity regulator beta,372aa) | g.20:49366348G>A,c.442G>A,p.V148M |
| PARD6B(NM_032521,par-6 family cell polarity regulator beta,372aa) | g.20:49366229C>T,c.323C>T,p.T108M |
| PARD6B(NM_032521,par-6 family cell polarity regulator beta,372aa) | g.20:49354598A>G,c.271A>G,p.I91V |
| PARD6A(NM_016948,par-6 family cell polarity regulator alpha,346aa) | g.16:67696459G>A,c.950G>A,p.R317H |