| 基因名 | 突变 |
|---|---|
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140564088C>T,c.1954C>T,p.R652C |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140564048G>C,c.1914G>C,p.Q638H |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140563965G>A,c.1831G>A,p.E611K |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140563711A>C,c.1577A>C,p.E526A |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140563708G>A,c.1574G>A,p.R525Q |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140563656G>A,c.1522G>A,p.A508T |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140563579C>T,c.1445C>T,p.T482I |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140563377G>C,c.1243G>C,p.A415P |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140563203C>T,c.1069C>T,p.P357S |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140563173G>T,c.1039G>T,p.V347L |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140563158G>C,c.1024G>C,p.D342H |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140562893G>C,c.759G>C,p.E253D |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140562843G>A,c.709G>A,p.D237N |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140562841A>G,c.707A>G,p.N236S |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140562775C>T,c.641C>T,p.A214V |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140562739G>A,c.605G>A,p.R202Q |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140562634T>C,c.500T>C,p.V167A |
| PCDHB16(NM_020957,protocadherin beta 16,776aa) | g.5:140562265T>C,c.131T>C,p.F44S |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140627397T>C,c.2251T>C,p.Y751H |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140627335G>A,c.2189G>A,p.G730D |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140627196G>T,c.2050G>T,p.D684Y |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140627140G>T,c.1994G>T,p.G665V |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140627020G>T,c.1874G>T,p.R625L |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140627002C>G,c.1856C>G,p.A619G |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140626900T>C,c.1754T>C,p.L585P |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140626855C>T,c.1709C>T,p.A570V |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140626707T>C,c.1561T>C,p.Y521H |
| PCDHB15(NM_018935,protocadherin beta 15,787aa) | g.5:140626627G>A,c.1481G>A,p.R494Q |