| 基因名 | 突变 |
|---|---|
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755573C>A,c.1923C>A,p.S641R |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755371G>A,c.1721G>A,p.G574D |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755049del,c.1399del,p.467fs |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140754978C>T,c.1328C>T,p.A443V |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140754766C>G,c.1116C>G,p.F372L |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140754392C>A,c.742C>A,p.R248S |
| PCDHGA5(NM_018918,protocadherin gamma subfamily A, 5,931aa) | g.5:140745942T>C,c.2045T>C,p.I682T |
| PCDHGA5(NM_018918,protocadherin gamma subfamily A, 5,931aa) | g.5:140745900T>A,c.2003T>A,p.I668N |
| PCDHGA5(NM_018918,protocadherin gamma subfamily A, 5,931aa) | g.5:140745333C>T,c.1436C>T,p.P479L |
| PCDHGA5(NM_018918,protocadherin gamma subfamily A, 5,931aa) | g.5:140745308A>G,c.1411A>G,p.I471V |
| PCDHGA5(NM_018918,protocadherin gamma subfamily A, 5,931aa) | g.5:140745306C>A,c.1409C>A,p.S470Y |
| PCDHGA5(NM_018918,protocadherin gamma subfamily A, 5,931aa) | g.5:140745230G>C,c.1333G>C,p.V445L |
| PCDHGA5(NM_018918,protocadherin gamma subfamily A, 5,931aa) | g.5:140745224G>A,c.1327G>A,p.A443T |
| PCDHGA5(NM_018918,protocadherin gamma subfamily A, 5,931aa) | g.5:140744997C>T,c.1100C>T,p.A367V |
| PCDHGA5(NM_018918,protocadherin gamma subfamily A, 5,931aa) | g.5:140744990G>A,c.1093G>A,p.V365I |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140737109G>A,c.2435G>A,p.S812N |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140736814G>C,c.2140G>C,p.D714H |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140736689G>A,c.2015G>A,p.R672K |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140736554G>A,c.1880G>A,p.R627K |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140736368C>G,c.1694C>G,p.A565G |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140736241G>T,c.1567G>T,p.A523S |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140736152C>G,c.1478C>G,p.P493R |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140736146A>G,c.1472A>G,p.Y491C |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140735861del,c.1187del,p.396fs |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140735617G>T,c.943G>T,p.V315L |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140735336A>C,c.662A>C,p.K221T |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140735221T>C,c.547T>C,p.F183L |
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140735215G>A,c.541G>A,p.A181T |