| 基因名 | 突变 |
|---|---|
| PCDH11X(NM_032968,protocadherin 11 X-linked,1347aa) | g.X:91090528_91090529insT,c.25_26insT,p.9fs |
| PCDH10(NM_032961,protocadherin 10,1040aa) | g.4:134084224C>T,c.2890C>T,p.R964C |
| PCDH10(NM_032961,protocadherin 10,1040aa) | g.4:134073723T>G,c.2428T>G,p.F810V |
| PCDH10(NM_032961,protocadherin 10,1040aa) | g.4:134073706T>C,c.2411T>C,p.I804T |
| PCDH10(NM_032961,protocadherin 10,1040aa) | g.4:134073527G>T,c.2232G>T,p.K744N |
| PCDH10(NM_032961,protocadherin 10,1040aa) | g.4:134073301C>T,c.2006C>T,p.S669F |
| PCDH10(NM_032961,protocadherin 10,1040aa) | g.4:134072764G>T,c.1469G>T,p.R490L |
| PCDH10(NM_032961,protocadherin 10,1040aa) | g.4:134072713C>G,c.1418C>G,p.T473S |
| PCDH10(NM_032961,protocadherin 10,1040aa) | g.4:134071951G>A,c.656G>A,p.G219D |
| PCDH10(NM_032961,protocadherin 10,1040aa) | g.4:134071678C>G,c.383C>G,p.T128R |
| PCDH10(NM_032961,protocadherin 10,1040aa) | g.4:134071430T>G,c.135T>G,p.I45M |
| PCCB(NM_001178014,propionyl CoA carboxylase, beta polypeptide,559aa) | g.3:136035819A>G,c.1063A>G,p.N355D |
| PCCB(NM_001178014,propionyl CoA carboxylase, beta polypeptide,559aa) | g.3:136035795C>T,c.1039C>T,p.R347C |
| PCCB(NM_001178014,propionyl CoA carboxylase, beta polypeptide,559aa) | g.3:136019877G>A,c.950G>A,p.R317H |
| PCCB(NM_001178014,propionyl CoA carboxylase, beta polypeptide,559aa) | g.3:136016845G>A,c.875G>A,p.R292Q |
| PCCB(NM_001178014,propionyl CoA carboxylase, beta polypeptide,559aa) | g.3:136002730C>T,c.655C>T,p.P219S |
| PCCB(NM_001178014,propionyl CoA carboxylase, beta polypeptide,559aa) | g.3:135975431G>A,c.338G>A,p.R113Q |
| PCCB(NM_001178014,propionyl CoA carboxylase, beta polypeptide,559aa) | g.3:135969333T>C,c.116T>C,p.I39T |
| PCCB(NM_001178014,propionyl CoA carboxylase, beta polypeptide,559aa) | g.3:135969266C>A,c.49C>A,p.L17M |
| PCCA(NM_000282,propionyl CoA carboxylase, alpha polypeptide,728aa) | g.13:101167798G>C,c.2017G>C,p.V673L |
| PCCA(NM_000282,propionyl CoA carboxylase, alpha polypeptide,728aa) | g.13:101101554A>G,c.1894A>G,p.T632A |
| PCCA(NM_000282,propionyl CoA carboxylase, alpha polypeptide,728aa) | g.13:101020827C>T,c.1745C>T,p.S582L |
| PCCA(NM_000282,propionyl CoA carboxylase, alpha polypeptide,728aa) | g.13:101020758G>T,c.1676G>T,p.W559L |
| PCCA(NM_000282,propionyl CoA carboxylase, alpha polypeptide,728aa) | g.13:101020733G>T,c.1651G>T,p.V551F |
| PCCA(NM_000282,propionyl CoA carboxylase, alpha polypeptide,728aa) | g.13:100962156A>G,c.1423A>G,p.I475V |
| PCCA(NM_000282,propionyl CoA carboxylase, alpha polypeptide,728aa) | g.13:100953816C>T,c.1168C>T,p.R390C |
| PCBP4(NM_001174100,poly(rC) binding protein 4,403aa) | g.3:51994306T>A,c.286A>T,p.N96Y |
| PCBP4(NM_001174100,poly(rC) binding protein 4,403aa) | g.3:51992175A>C,c.1114T>G,p.S372A |