| 基因名 | 突变 |
|---|---|
| PCDHB6(NM_018939,protocadherin beta 6,794aa) | g.5:140530529G>A,c.691G>A,p.V231I |
| PCDHB6(NM_018939,protocadherin beta 6,794aa) | g.5:140530497C>T,c.659C>T,p.P220L |
| PCDHB6(NM_018939,protocadherin beta 6,794aa) | g.5:140530418G>A,c.580G>A,p.V194M |
| PCDHB6(NM_018939,protocadherin beta 6,794aa) | g.5:140529938G>A,c.100G>A,p.V34I |
| PCDHB6(NM_018939,protocadherin beta 6,794aa) | g.5:140529841G>A,c.3G>A,p.M1I |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140517348G>T,c.2332G>T,p.A778S |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140517345G>A,c.2329G>A,p.G777S |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140517308G>T,c.2292G>T,p.K764N |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140517228G>T,c.2212G>T,p.V738L |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140517174T>C,c.2158T>C,p.S720P |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140517111C>T,c.2095C>T,p.L699F |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140517069C>T,c.2053C>T,p.L685F |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140517034C>G,c.2018C>G,p.P673R |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140516927C>G,c.1911C>G,p.H637Q |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140516745C>T,c.1729C>T,p.R577W |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140516509G>C,c.1493G>C,p.R498P |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140516473C>A,c.1457C>A,p.T486N |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140516407G>A,c.1391G>A,p.S464N |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140516367A>T,c.1351A>T,p.T451S |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140515792C>G,c.776C>G,p.S259C |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140515483T>C,c.467T>C,p.I156T |
| PCDHB5(NM_015669,protocadherin beta 5,795aa) | g.5:140515261G>A,c.245G>A,p.G82D |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140503531C>T,c.1951C>T,p.R651C |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140503237A>G,c.1657A>G,p.T553A |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140503154C>A,c.1574C>A,p.A525E |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140503033G>T,c.1453G>T,p.V485F |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140503031A>G,c.1451A>G,p.Q484R |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140502857G>A,c.1277G>A,p.G426E |