| 基因名 | 突变 |
|---|---|
| PCDH20(NM_022843,protocadherin 20,951aa) | g.13:61986223C>T,c.2009G>A,p.R670Q |
| PCDH20(NM_022843,protocadherin 20,951aa) | g.13:61985414T>C,c.2818A>G,p.M940V |
| PCDH1(NM_032420,protocadherin 1,1237aa) | g.5:141248994G>A,c.43C>T,p.L15F |
| PCDH1(NM_032420,protocadherin 1,1237aa) | g.5:141248963T>G,c.74A>C,p.H25P |
| PCDH1(NM_032420,protocadherin 1,1237aa) | g.5:141244356C>T,c.1540G>A,p.A514T |
| PCDH1(NM_032420,protocadherin 1,1237aa) | g.5:141243816G>A,c.2080C>T,p.P694S |
| PCDH1(NM_032420,protocadherin 1,1237aa) | g.5:141243762C>T,c.2134G>A,p.A712T |
| PCDH1(NM_032420,protocadherin 1,1237aa) | g.5:141243692G>A,c.2204C>T,p.T735M |
| PCDH1(NM_032420,protocadherin 1,1237aa) | g.5:141242861G>A,c.3035C>T,p.T1012M |
| PCDH1(NM_032420,protocadherin 1,1237aa) | g.5:141233971G>A,c.3350C>T,p.T1117I |
| PCDH1(NM_032420,protocadherin 1,1237aa) | g.5:141233875G>A,c.3446C>T,p.A1149V |
| PCDH1(NM_032420,protocadherin 1,1237aa) | g.5:141233707G>A,c.3614C>T,p.S1205L |
| PCDH1(NM_032420,protocadherin 1,1237aa) | g.5:141233633T>A,c.3688A>T,p.T1230S |
| PCDH19(NM_001184880,protocadherin 19,1148aa) | g.X:99662302T>C,c.1294A>G,p.M432V |
| PCDH19(NM_001184880,protocadherin 19,1148aa) | g.X:99551784G>A,c.2938C>T,p.R980C |
| PCDH19(NM_001184880,protocadherin 19,1148aa) | g.X:99551595T>A,c.3127A>T,p.I1043F |
| PCDH19(NM_001184880,protocadherin 19,1148aa) | g.X:99551487G>C,c.3235C>G,p.P1079A |
| PCDH19(NM_001184880,protocadherin 19,1148aa) | g.X:99551442G>C,c.3280C>G,p.L1094V |
| PCDH19(NM_001184880,protocadherin 19,1148aa) | g.X:99551322T>G,c.3400A>C,p.N1134H |
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138452213C>T,c.1030G>A,p.V344I |
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138451955C>G,c.1288G>C,p.E430Q |
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138451780G>A,c.1463C>T,p.T488I |
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138451723C>T,c.1520G>A,p.S507N |
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138451499G>A,c.1744C>T,p.R582C |
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138451498C>T,c.1745G>A,p.R582H |
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138451397G>A,c.1846C>T,p.L616F |
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138451090A>G,c.2153T>C,p.V718A |
| PCDH18(NM_019035,protocadherin 18,1135aa) | g.4:138450866G>A,c.2377C>T,p.R793W |