| 基因名 | 突变 |
|---|---|
| PCDHGB6(NM_018926,protocadherin gamma subfamily B, 6,930aa) | g.5:140787962A>G,c.193A>G,p.K65E |
| PCDHGB5(NM_018925,protocadherin gamma subfamily B, 5,923aa) | g.5:140779777A>C,c.2083A>C,p.I695L |
| PCDHGB5(NM_018925,protocadherin gamma subfamily B, 5,923aa) | g.5:140779597C>T,c.1903C>T,p.R635C |
| PCDHGB5(NM_018925,protocadherin gamma subfamily B, 5,923aa) | g.5:140779475C>T,c.1781C>T,p.S594L |
| PCDHGB5(NM_018925,protocadherin gamma subfamily B, 5,923aa) | g.5:140779363C>T,c.1669C>T,p.R557W |
| PCDHGB5(NM_018925,protocadherin gamma subfamily B, 5,923aa) | g.5:140779354A>C,c.1660A>C,p.N554H |
| PCDHGB5(NM_018925,protocadherin gamma subfamily B, 5,923aa) | g.5:140778962G>A,c.1268G>A,p.R423K |
| PCDHGB5(NM_018925,protocadherin gamma subfamily B, 5,923aa) | g.5:140778580G>A,c.886G>A,p.E296K |
| PCDHGB5(NM_018925,protocadherin gamma subfamily B, 5,923aa) | g.5:140778539A>G,c.845A>G,p.Y282C |
| PCDHGB5(NM_018925,protocadherin gamma subfamily B, 5,923aa) | g.5:140778472A>G,c.778A>G,p.T260A |
| PCDHGB5(NM_018925,protocadherin gamma subfamily B, 5,923aa) | g.5:140778256G>A,c.562G>A,p.G188S |
| PCDHGB4(NM_003736,protocadherin gamma subfamily B, 4,923aa) | g.5:140769289G>C,c.1838G>C,p.G613A |
| PCDHGB4(NM_003736,protocadherin gamma subfamily B, 4,923aa) | g.5:140768941G>A,c.1490G>A,p.R497Q |
| PCDHGB4(NM_003736,protocadherin gamma subfamily B, 4,923aa) | g.5:140768844C>T,c.1393C>T,p.P465S |
| PCDHGB4(NM_003736,protocadherin gamma subfamily B, 4,923aa) | g.5:140768767A>G,c.1316A>G,p.H439R |
| PCDHGB4(NM_003736,protocadherin gamma subfamily B, 4,923aa) | g.5:140768709G>A,c.1258G>A,p.V420I |
| PCDHGB4(NM_003736,protocadherin gamma subfamily B, 4,923aa) | g.5:140768269T>G,c.818T>G,p.V273G |
| PCDHGB4(NM_003736,protocadherin gamma subfamily B, 4,923aa) | g.5:140768133A>T,c.682A>T,p.I228L |
| PCDHGB4(NM_003736,protocadherin gamma subfamily B, 4,923aa) | g.5:140768132G>C,c.681G>C,p.Q227H |
| PCDHGB4(NM_003736,protocadherin gamma subfamily B, 4,923aa) | g.5:140767503T>G,c.52T>G,p.F18V |
| PCDHGB4(NM_003736,protocadherin gamma subfamily B, 4,923aa) | g.5:140767492_140767497del,c.41_46del,p.14_16del |
| PCDHGB3(NM_018924,protocadherin gamma subfamily B, 3,929aa) | g.5:140752354C>A,c.2393C>A,p.S798Y |
| PCDHGB3(NM_018924,protocadherin gamma subfamily B, 3,929aa) | g.5:140751696C>A,c.1735C>A,p.P579T |
| PCDHGB3(NM_018924,protocadherin gamma subfamily B, 3,929aa) | g.5:140751489C>T,c.1528C>T,p.R510W |
| PCDHGB3(NM_018924,protocadherin gamma subfamily B, 3,929aa) | g.5:140751288C>T,c.1327C>T,p.L443F |
| PCDHGB3(NM_018924,protocadherin gamma subfamily B, 3,929aa) | g.5:140751128C>G,c.1167C>G,p.N389K |
| PCDHGB3(NM_018924,protocadherin gamma subfamily B, 3,929aa) | g.5:140750939T>A,c.978T>A,p.H326Q |
| PCDHGB3(NM_018924,protocadherin gamma subfamily B, 3,929aa) | g.5:140750900T>G,c.939T>G,p.D313E |