| 基因名 | 突变 |
|---|---|
| PCDHGB3(NM_018924,protocadherin gamma subfamily B, 3,929aa) | g.5:140750710A>G,c.749A>G,p.N250S |
| PCDHGB3(NM_018924,protocadherin gamma subfamily B, 3,929aa) | g.5:140750296A>T,c.335A>T,p.K112M |
| PCDHGB3(NM_018924,protocadherin gamma subfamily B, 3,929aa) | g.5:140750044T>C,c.83T>C,p.V28A |
| PCDHGB3(NM_018924,protocadherin gamma subfamily B, 3,929aa) | g.5:140750020T>A,c.59T>A,p.F20Y |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140742119T>C,c.2417T>C,p.L806S |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140742092G>T,c.2390G>T,p.G797V |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140741761A>G,c.2059A>G,p.K687E |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140741738G>C,c.2036G>C,p.R679P |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140741455G>A,c.1753G>A,p.G585S |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140741407C>A,c.1705C>A,p.P569T |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140741369A>G,c.1667A>G,p.N556S |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140741245T>C,c.1543T>C,p.F515L |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140741076G>T,c.1374G>T,p.M458I |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140739874G>A,c.172G>A,p.V58I |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140739812T>C,c.110T>C,p.I37T |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140739779C>G,c.77C>G,p.P26R |
| PCDHGB2(NM_018923,protocadherin gamma subfamily B, 2,931aa) | g.5:140739737G>C,c.35G>C,p.R12P |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140732220C>A,c.2393C>A,p.P798H |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140731769C>G,c.1942C>G,p.P648A |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140731461G>C,c.1634G>C,p.R545P |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140731394G>T,c.1567G>T,p.A523S |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140731022A>G,c.1195A>G,p.K399E |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140730843A>G,c.1016A>G,p.N339S |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140730674A>G,c.847A>G,p.I283V |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140730660T>C,c.833T>C,p.F278S |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140730384G>T,c.557G>T,p.S186I |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140730351_140730352del,c.524_525del,p.175fs |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140730210C>T,c.383C>T,p.P128L |