| 基因名 | 突变 |
|---|---|
| PCDHA2(NM_018905,protocadherin alpha 2,948aa) | g.5:140174895G>T,c.346G>T,p.V116F |
| PCDHA2(NM_018905,protocadherin alpha 2,948aa) | g.5:140174865G>C,c.316G>C,p.V106L |
| PCDHA2(NM_018905,protocadherin alpha 2,948aa) | g.5:140174622G>A,c.73G>A,p.E25K |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140168258C>T,c.2383C>T,p.L795F |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140168193G>A,c.2318G>A,p.S773N |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140168151G>T,c.2276G>T,p.C759F |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140168088C>T,c.2213C>T,p.T738I |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140168087A>T,c.2212A>T,p.T738S |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140168070A>G,c.2195A>G,p.Y732C |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140168052C>G,c.2177C>G,p.P726R |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140167875T>C,c.2000T>C,p.V667A |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140167808T>C,c.1933T>C,p.Y645H |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140167770G>A,c.1895G>A,p.S632N |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140167727G>T,c.1852G>T,p.A618S |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140167295A>G,c.1420A>G,p.I474V |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140167220A>C,c.1345A>C,p.N449H |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140167014G>C,c.1139G>C,p.G380A |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140166953A>G,c.1078A>G,p.R360G |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140166821T>C,c.946T>C,p.Y316H |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140166396C>T,c.521C>T,p.P174L |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140166395C>A,c.520C>A,p.P174T |
| PCDHA1(NM_018900,protocadherin alpha 1,950aa) | g.5:140166279G>A,c.404G>A,p.G135D |
| PCDHA13(NM_018904,protocadherin alpha 13,950aa) | g.5:140264120C>G,c.2267C>G,p.P756R |
| PCDHA13(NM_018904,protocadherin alpha 13,950aa) | g.5:140263998G>C,c.2145G>C,p.L715F |
| PCDHA13(NM_018904,protocadherin alpha 13,950aa) | g.5:140263892C>T,c.2039C>T,p.S680L |
| PCDHA13(NM_018904,protocadherin alpha 13,950aa) | g.5:140263649C>A,c.1796C>A,p.A599D |
| PCDHA13(NM_018904,protocadherin alpha 13,950aa) | g.5:140263553C>G,c.1700C>G,p.T567R |
| PCDHA13(NM_018904,protocadherin alpha 13,950aa) | g.5:140263489G>A,c.1636G>A,p.G546S |