| 基因名 | 突变 |
|---|---|
| CFH(NM_000186,complement factor H,1231aa) | g.1:196706049G>A,c.2509G>A,p.V837I |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196695923C>T,c.2089C>T,p.L697F |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196695742A>G,c.2016A>G,p.Q672Q |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196694290T>C,c.1736T>C,p.V579A |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196684855T>C,c.1652T>C,p.I551T |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196684751T>A,c.1548T>A,p.N516K |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196683039C>T,c.1511C>T,p.T504M |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196682947G>A,c.1419G>A,p.A473A |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196659343C>A,c.1310C>A,p.S437Y |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196659237C>T,c.1204C>T,p.H402Y |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196654324A>C,c.921A>C,p.A307A |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196654310C>T,c.907C>T,p.R303W |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196648903G>A,c.770G>A,p.R257H |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196648780T>C,c.647T>C,p.I216T |
| CFH(NM_000186,complement factor H,1231aa) | g.1:196642233G>A,c.184G>A,p.V62I |
| CFDP1(NM_006324,craniofacial development protein 1,299aa) | g.16:75467223A>G,c.28T>C,p.S10P |
| CFDP1(NM_006324,craniofacial development protein 1,299aa) | g.16:75448587T>C,c.71A>G,p.E24G |
| CFDP1(NM_006324,craniofacial development protein 1,299aa) | g.16:75448529C>G,c.129G>C,p.E43D |
| CFDP1(NM_006324,craniofacial development protein 1,299aa) | g.16:75448480C>T,c.178G>A,p.A60T |
| CFDP1(NM_006324,craniofacial development protein 1,299aa) | g.16:75446443G>A,c.392C>T,p.T131I |
| CFDP1(NM_006324,craniofacial development protein 1,299aa) | g.16:75446435T>C,c.400A>G,p.K134E |
| CFDP1(NM_006324,craniofacial development protein 1,299aa) | g.16:75429028T>C,c.610A>G,p.N204D |
| CFD(NM_001928,complement factor D (adipsin),253aa) | g.19:863220C>G,c.744C>G,p.I248M |
| CFD(NM_001928,complement factor D (adipsin),253aa) | g.19:861943G>A,c.602G>A,p.R201Q |
| CFD(NM_001928,complement factor D (adipsin),253aa) | g.19:860766G>A,c.205G>A,p.E69K |
| CFC1(NM_032545,cripto, FRL-1, cryptic family 1,223aa) | g.2:131356322C>T,c.140G>A,p.R47Q |
| CFC1(NM_032545,cripto, FRL-1, cryptic family 1,223aa) | g.2:131356244G>A,c.218C>T,p.P73L |
| CFB(NM_001710,complement factor B,764aa) | g.6:31919018T>G,c.1953T>G,p.D651E |