| 基因名 | 突变 |
|---|---|
| PCDHB12(NM_018932,protocadherin beta 12,795aa) | g.5:140589416G>A,c.937G>A,p.E313K |
| PCDHB12(NM_018932,protocadherin beta 12,795aa) | g.5:140589300A>G,c.821A>G,p.N274S |
| PCDHB12(NM_018932,protocadherin beta 12,795aa) | g.5:140589294G>T,c.815G>T,p.G272V |
| PCDHB12(NM_018932,protocadherin beta 12,795aa) | g.5:140588918C>T,c.439C>T,p.P147S |
| PCDHB12(NM_018932,protocadherin beta 12,795aa) | g.5:140588855A>G,c.376A>G,p.I126V |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140581596A>T,c.2249A>T,p.Q750L |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140581380C>A,c.2033C>A,p.P678Q |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140581324A>C,c.1977A>C,p.Q659H |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140581261C>G,c.1914C>G,p.H638Q |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140581220C>A,c.1873C>A,p.R625S |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140580995C>G,c.1648C>G,p.L550V |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140580931C>G,c.1584C>G,p.D528E |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140580800C>T,c.1453C>T,p.Q485X |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140580797G>T,c.1450G>T,p.A484S |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140580692C>G,c.1345C>G,p.P449A |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140580548T>C,c.1201T>C,p.Y401H |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140580302A>G,c.955A>G,p.I319V |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140580006C>T,c.659C>T,p.P220L |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140579984T>A,c.637T>A,p.S213T |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140579961T>G,c.614T>G,p.L205R |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140579834G>A,c.487G>A,p.G163R |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140579411G>A,c.64G>A,p.G22R |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140579367G>A,c.20G>A,p.R7H |
| PCDHB11(NM_018931,protocadherin beta 11,797aa) | g.5:140579358A>G,c.11A>G,p.Q4R |
| PCDHB10(NM_018930,protocadherin beta 10,800aa) | g.5:140574472A>G,c.2347A>G,p.R783G |
| PCDHB10(NM_018930,protocadherin beta 10,800aa) | g.5:140574257T>A,c.2132T>A,p.V711E |
| PCDHB10(NM_018930,protocadherin beta 10,800aa) | g.5:140574238C>T,c.2113C>T,p.L705F |
| PCDHB10(NM_018930,protocadherin beta 10,800aa) | g.5:140574209C>G,c.2084C>G,p.A695G |