| 基因名 | 突变 |
|---|---|
| PDE1B(NM_000924,phosphodiesterase 1B, calmodulin-dependent,536aa) | g.12:54970423G>A,c.1445G>A,p.R482H |
| PDE1B(NM_000924,phosphodiesterase 1B, calmodulin-dependent,536aa) | g.12:54969851C>T,c.1343C>T,p.A448V |
| PDE1B(NM_000924,phosphodiesterase 1B, calmodulin-dependent,536aa) | g.12:54967452G>C,c.1023G>C,p.Q341H |
| PDE1A(NM_005019,phosphodiesterase 1A, calmodulin-dependent,545aa) | g.2:183104895C>T,c.340G>A,p.E114K |
| PDE1A(NM_005019,phosphodiesterase 1A, calmodulin-dependent,545aa) | g.2:183099170C>T,c.454G>A,p.V152I |
| PDE1A(NM_005019,phosphodiesterase 1A, calmodulin-dependent,545aa) | g.2:183070695A>C,c.922T>G,p.L308V |
| PDE12(NM_177966,phosphodiesterase 12,609aa) | g.3:57545409C>G,c.1508C>G,p.T503R |
| PDE12(NM_177966,phosphodiesterase 12,609aa) | g.3:57543127G>A,c.1021G>A,p.G341S |
| PDE12(NM_177966,phosphodiesterase 12,609aa) | g.3:57543050C>T,c.944C>T,p.T315M |
| PDE12(NM_177966,phosphodiesterase 12,609aa) | g.3:57542538C>A,c.432C>A,p.D144E |
| PDE12(NM_177966,phosphodiesterase 12,609aa) | g.3:57542456T>C,c.350T>C,p.V117A |
| PDE12(NM_177966,phosphodiesterase 12,609aa) | g.3:57542173C>T,c.67C>T,p.R23W |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178937142A>G,c.23T>C,p.F8S |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178937010C>G,c.155G>C,p.R52T |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178936860C>A,c.305G>T,p.W102L |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178936614C>T,c.551G>A,p.R184Q |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178936561G>A,c.604C>T,p.R202C |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178936457G>T,c.708C>A,p.D236E |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178879181G>A,c.919C>T,p.R307X |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178879115G>A,c.985C>T,p.R329X |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178879055C>T,c.1045G>A,p.A349T |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178704994G>A,c.1484C>T,p.P495L |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178704992G>A,c.1486C>T,p.R496C |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178704991C>T,c.1487G>A,p.R496H |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178681585A>G,c.1708T>C,p.S570P |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178634082G>A,c.1757C>T,p.T586I |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178592864C>T,c.1825G>A,p.D609N |
| PDE11A(NM_016953,phosphodiesterase 11A,933aa) | g.2:178592768T>C,c.1921A>G,p.K641E |