| 基因名 | 突变 |
|---|---|
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123903015C>T,c.2434C>T,p.R812C |
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123898249A>G,c.2191A>G,p.R731G |
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123886324C>T,c.1766C>T,p.T589M |
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123880694G>A,c.1526G>A,p.R509H |
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123880640A>G,c.1472A>G,p.K491R |
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123875921C>G,c.1264C>G,p.L422V |
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123874803G>A,c.1069G>A,p.A357T |
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123874764C>T,c.1030C>T,p.R344X |
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123860689C>T,c.647C>T,p.P216L |
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123850770G>A,c.166G>A,p.V56I |
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123850719A>G,c.115A>G,p.I39V |
| CNTRL(NM_007018,centriolin,2325aa) | g.9:123850642C>A,c.38C>A,p.A13E |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125671722C>T,c.3778C>T,p.R1260W |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125660609C>T,c.3584C>T,p.T1195M |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125660581G>A,c.3556G>A,p.A1186T |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125660482G>A,c.3457G>A,p.V1153I |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125627303A>G,c.3397A>G,p.R1133G |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125627263A>C,c.3357A>C,p.Q1119H |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125530432G>A,c.2587G>A,p.V863I |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125504881T>C,c.2150T>C,p.V717A |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125405429C>G,c.1968C>G,p.D656E |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125281910C>T,c.1355C>T,p.S452L |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125204474G>A,c.878G>A,p.R293H |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125204348T>C,c.752T>C,p.L251P |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125204345G>A,c.749G>A,p.R250Q |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:125175081G>A,c.443G>A,p.R148K |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:124999881G>A,c.292G>A,p.G98R |
| CNTNAP5(NM_130773,contactin associated protein-like 5,1306aa) | g.2:124783307A>C,c.80A>C,p.N27T |