| 基因名 | 突变 |
|---|---|
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141335043C>T,c.2374G>A,p.G792R |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141334902G>A,c.2515C>T,p.R839X |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141334883G>A,c.2534C>T,p.T845M |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141334760G>A,c.2657C>T,p.P886L |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141329059T>G,c.3068A>C,p.E1023A |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141325347C>T,c.3154G>A,p.A1052T |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141325337G>A,c.3164C>T,p.P1055L |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141325292C>T,c.3209G>A,p.R1070H |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141325257C>G,c.3244G>C,p.E1082Q |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141324976T>G,c.3525A>C,p.R1175S |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141324975C>T,c.3526G>A,p.G1176S |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141324966T>C,c.3535A>G,p.S1179G |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141324955C>G,c.3546G>C,p.R1182S |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141324955_141324956insCTGCTGCTG,c.3545_3546insCAGCAGCAG,p.1182ins3aa |
| PCDH12(NM_016580,protocadherin 12,1184aa) | g.5:141324954A>T,c.3547T>A,p.C1183S |
| PCDH11Y(NM_032973,protocadherin 11 Y-linked,1340aa) | g.Y:5605924C>T,c.3964C>T,p.R1322C |
| PCDH11Y(NM_032973,protocadherin 11 Y-linked,1340aa) | g.Y:4968655T>G,c.3036T>G,p.N1012K |
| PCDH11Y(NM_032973,protocadherin 11 Y-linked,1340aa) | g.Y:4968368G>T,c.2749G>T,p.V917F |
| PCDH11Y(NM_032973,protocadherin 11 Y-linked,1340aa) | g.Y:4967187C>T,c.1568C>T,p.T523M |
| PCDH11X(NM_032968,protocadherin 11 X-linked,1347aa) | g.X:91873778G>C,c.3883G>C,p.G1295R |
| PCDH11X(NM_032968,protocadherin 11 X-linked,1347aa) | g.X:91873533C>T,c.3638C>T,p.P1213L |
| PCDH11X(NM_032968,protocadherin 11 X-linked,1347aa) | g.X:91873265G>C,c.3370G>C,p.A1124P |
| PCDH11X(NM_032968,protocadherin 11 X-linked,1347aa) | g.X:91723313T>C,c.3359T>C,p.L1120P |
| PCDH11X(NM_032968,protocadherin 11 X-linked,1347aa) | g.X:91518138G>A,c.3140G>A,p.G1047E |
| PCDH11X(NM_032968,protocadherin 11 X-linked,1347aa) | g.X:91456393G>A,c.3053G>A,p.R1018Q |
| PCDH11X(NM_032968,protocadherin 11 X-linked,1347aa) | g.X:91456380A>G,c.3040A>G,p.K1014E |
| PCDH11X(NM_032968,protocadherin 11 X-linked,1347aa) | g.X:91131957A>T,c.718A>T,p.T240S |
| PCDH11X(NM_032968,protocadherin 11 X-linked,1347aa) | g.X:91090660C>T,c.157C>T,p.P53S |