| 基因名 | 突变 |
|---|---|
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178592397C>T,c.2032G>A,p.A678T |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178576579C>T,c.2071G>A,p.E691K |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178565913T>C,c.2180A>G,p.Y727C |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178562138A>T,c.2267T>A,p.L756Q |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178562072G>A,c.2333C>T,p.T778M |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178545566C>T,c.2411G>A,p.R804H |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178540202G>A,c.2468C>T,p.P823L |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178534265C>T,c.2518G>A,p.E840K |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178534265C>A,c.2518G>T,p.E840X |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178534253G>A,c.2530C>T,p.R844W |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178534249T>A,c.2534A>T,p.E845V |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178528641G>C,c.2599C>G,p.R867G |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178528608T>C,c.2632A>G,p.M878V |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178528600C>A,c.2640G>T,p.L880F |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178494178_178494179insAGG,c.2758_2759insCCT,p.920ins1aa |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178494173_178494174insGGA,c.2763_2764insTCC,p.921_922ins1aa |
| PDE10A(NM_001130690,phosphodiesterase 10A,789aa) | g.6:165848858C>G,c.404G>C,p.C135S |
| PDE10A(NM_001130690,phosphodiesterase 10A,789aa) | g.6:165808716G>C,c.1459C>G,p.P487A |
| PDE10A(NM_001130690,phosphodiesterase 10A,789aa) | g.6:165756927C>T,c.2050G>A,p.V684I |
| PDDC1(NM_182612,Parkinson disease 7 domain containing 1,220aa) | g.11:775136G>C,c.71C>G,p.S24W |
| PDDC1(NM_182612,Parkinson disease 7 domain containing 1,220aa) | g.11:772507C>T,c.370G>A,p.V124I |
| PDDC1(NM_182612,Parkinson disease 7 domain containing 1,220aa) | g.11:771408C>T,c.469G>A,p.V157I |
| PDDC1(NM_182612,Parkinson disease 7 domain containing 1,220aa) | g.11:771390C>T,c.487G>A,p.A163T |
| PDC(NM_002597,phosducin,246aa) | g.1:186415670A>G,c.101T>C,p.L34S |
| PDC(NM_002597,phosducin,246aa) | g.1:186415636G>T,c.135C>A,p.S45R |
| PDC(NM_002597,phosducin,246aa) | g.1:186413314G>A,c.538C>T,p.R180C |
| PDC(NM_002597,phosducin,246aa) | g.1:186413258T>C,c.594A>G,p.I198M |
| PDCL(NM_005388,phosducin-like,301aa) | g.9:125589057G>A,c.10C>T,p.L4F |