| 基因名 | 突变 |
|---|---|
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138442615G>T,c.2976C>A,p.N992K |
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138442500G>A,c.3091C>T,p.R1031W |
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138442377G>A,c.3214C>T,p.P1072S |
| PCDH17(NM_001040429,protocadherin 17,1159aa) | g.13:58299377T>A,c.3429T>A,p.D1143E |
| PCDH17(NM_001040429,protocadherin 17,1159aa) | g.13:58299115G>A,c.3167G>A,p.G1056D |
| PCDH17(NM_001040429,protocadherin 17,1159aa) | g.13:58298765T>G,c.2817T>G,p.N939K |
| PCDH17(NM_001040429,protocadherin 17,1159aa) | g.13:58207711G>T,c.1031G>T,p.R344L |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:56423968A>C,c.55T>G,p.S19A |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:56287583T>C,c.161A>G,p.E54G |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:56138562C>T,c.313G>A,p.G105R |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:56106126G>A,c.608C>T,p.P203L |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:56077074C>T,c.848G>A,p.R283H |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55973787C>T,c.1022G>A,p.R341Q |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55973755G>A,c.1054C>T,p.L352F |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55955610C>T,c.1153G>A,p.G385S |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55955553T>G,c.1210A>C,p.S404R |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55955444T>G,c.1319A>C,p.D440A |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55944949T>C,c.1400A>G,p.Y467C |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55943311C>T,c.1498G>A,p.V500I |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55912995A>C,c.1664T>G,p.V555G |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55912942C>T,c.1717G>A,p.A573T |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55892642T>C,c.1925A>G,p.N642S |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55892637G>A,c.1930C>T,p.Q644X |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55826599T>C,c.2153A>G,p.N718S |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55780140G>A,c.2578C>T,p.R860W |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55755491C>T,c.2801G>A,p.R934Q |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55721637G>A,c.2899C>T,p.R967C |
| PCDH15(NM_001142771,protocadherin-related 15,1682aa) | g.10:55721636C>A,c.2900G>T,p.R967L |