| 基因名 | 突变 |
|---|---|
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140502841G>A,c.1261G>A,p.A421T |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140502733C>T,c.1153C>T,p.P385S |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140502659_140502660del,c.1079_1080del,p.360fs |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140502487del,c.907del,p.303fs |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140502433G>C,c.853G>C,p.D285H |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140502344C>T,c.764C>T,p.P255L |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140502343C>T,c.763C>T,p.P255S |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140502241A>G,c.661A>G,p.R221G |
| PCDHB4(NM_018938,protocadherin beta 4,795aa) | g.5:140502083A>G,c.503A>G,p.K168R |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140482448G>A,c.2215G>A,p.V739M |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140482431C>T,c.2198C>T,p.P733L |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140482278A>G,c.2045A>G,p.Q682R |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140482147C>G,c.1914C>G,p.H638Q |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140482013G>A,c.1780G>A,p.G594S |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140481833A>G,c.1600A>G,p.T534A |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140481810C>A,c.1577C>A,p.A526E |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140481594T>C,c.1361T>C,p.I454T |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140481588C>T,c.1355C>T,p.T452I |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140481477C>G,c.1244C>G,p.S415C |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140481475A>T,c.1242A>T,p.R414S |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140481132A>G,c.899A>G,p.D300G |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140480852G>A,c.619G>A,p.E207K |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140480763A>C,c.530A>C,p.H177P |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140480658T>C,c.425T>C,p.I142T |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140480616A>G,c.383A>G,p.D128G |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140480475C>T,c.242C>T,p.T81I |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140480433T>A,c.200T>A,p.V67E |
| PCDHB3(NM_018937,protocadherin beta 3,796aa) | g.5:140480355A>G,c.122A>G,p.K41R |