| 基因名 | 突变 |
|---|---|
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140476767C>G,c.2393C>G,p.T798S |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140476652del,c.2278del,p.760fs |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140476395_140476396TG>CT,c.2021_2022TG>CT,p.L674P |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140476332C>T,c.1958C>T,p.P653L |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140476283G>A,c.1909G>A,p.A637T |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140475980G>A,c.1606G>A,p.A536T |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140475922C>A,c.1548C>A,p.F516L |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140475852T>C,c.1478T>C,p.L493P |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140475665C>A,c.1291C>A,p.P431T |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140475647G>A,c.1273G>A,p.V425I |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140475134C>G,c.760C>G,p.P254A |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140475108C>G,c.734C>G,p.A245G |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140474891A>C,c.517A>C,p.T173P |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140474756G>A,c.382G>A,p.V128I |
| PCDHB2(NM_018936,protocadherin beta 2,798aa) | g.5:140474387G>A,c.13G>A,p.E5K |
| PCDHB1(NM_013340,protocadherin beta 1,818aa) | g.5:140433389C>G,c.2334C>G,p.F778L |
| PCDHB1(NM_013340,protocadherin beta 1,818aa) | g.5:140433360C>T,c.2305C>T,p.R769C |
| PCDHB1(NM_013340,protocadherin beta 1,818aa) | g.5:140433211A>T,c.2156A>T,p.K719I |
| PCDHB1(NM_013340,protocadherin beta 1,818aa) | g.5:140432646G>C,c.1591G>C,p.V531L |
| PCDHB1(NM_013340,protocadherin beta 1,818aa) | g.5:140432626C>T,c.1571C>T,p.A524V |
| PCDHB1(NM_013340,protocadherin beta 1,818aa) | g.5:140432602C>T,c.1547C>T,p.A516V |
| PCDHB1(NM_013340,protocadherin beta 1,818aa) | g.5:140432223C>T,c.1168C>T,p.L390F |
| PCDHB1(NM_013340,protocadherin beta 1,818aa) | g.5:140431878A>C,c.823A>C,p.K275Q |
| PCDHB1(NM_013340,protocadherin beta 1,818aa) | g.5:140431466G>T,c.411G>T,p.E137D |
| PCDHB1(NM_013340,protocadherin beta 1,818aa) | g.5:140431428G>T,c.373G>T,p.D125Y |
| PCDHB1(NM_013340,protocadherin beta 1,818aa) | g.5:140431179G>C,c.124G>C,p.G42R |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140564263C>T,c.2129C>T,p.A710V |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140564111C>A,c.1977C>A,p.H659Q |