| 基因名 | 突变 |
|---|---|
| KIAA1522(NM_020888,KIAA1522,1094aa) | g.1:33236285G>A,c.1505G>A,p.R502H |
| KIAA1522(NM_020888,KIAA1522,1094aa) | g.1:33236255G>A,c.1475G>A,p.R492H |
| KIAA1522(NM_020888,KIAA1522,1094aa) | g.1:33235789C>T,c.1009C>T,p.P337S |
| KIAA1522(NM_020888,KIAA1522,1094aa) | g.1:33235787A>G,c.1007A>G,p.E336G |
| KIAA1522(NM_020888,KIAA1522,1094aa) | g.1:33235651A>G,c.871A>G,p.M291V |
| KIAA1522(NM_020888,KIAA1522,1094aa) | g.1:33235641G>C,c.861G>C,p.E287D |
| KIAA1522(NM_020888,KIAA1522,1094aa) | g.1:33234307T>C,c.517T>C,p.S173P |
| KIAA1522(NM_020888,KIAA1522,1094aa) | g.1:33233498C>T,c.346C>T,p.P116S |
| KIAA1468(NM_020854,KIAA1468,1216aa) | g.18:59958830G>A,c.3425G>A,p.R1142Q |
| KIAA1468(NM_020854,KIAA1468,1216aa) | g.18:59954677C>G,c.3347C>G,p.A1116G |
| KIAA1468(NM_020854,KIAA1468,1216aa) | g.18:59894596T>G,c.933T>G,p.F311L |
| KIAA1468(NM_020854,KIAA1468,1216aa) | g.18:59854886G>A,c.148G>A,p.G50S |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13233561C>G,c.1866C>G,p.I622M |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13232939A>G,c.1859A>G,p.Y620C |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13232812A>C,c.1732A>C,p.S578R |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13224220C>T,c.1414C>T,p.R472C |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13221631G>T,c.1354G>T,p.V452F |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13221378G>A,c.1283G>A,p.R428H |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13221240A>T,c.1145A>T,p.D382V |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13219605G>A,c.884G>A,p.R295Q |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13214602T>C,c.626T>C,p.I209T |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13211471G>A,c.520G>A,p.G174R |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13208860G>A,c.413G>A,p.R138H |
| KIAA1467(NM_020853,KIAA1467,622aa) | g.12:13208728C>A,c.281C>A,p.A94E |
| KIAA1462(NM_020848,KIAA1462,1359aa) | g.10:30336710T>A,c.32A>T,p.H11L |
| KIAA1462(NM_020848,KIAA1462,1359aa) | g.10:30336672C>T,c.70G>A,p.E24K |
| KIAA1462(NM_020848,KIAA1462,1359aa) | g.10:30336664G>C,c.78C>G,p.N26K |
| KIAA1462(NM_020848,KIAA1462,1359aa) | g.10:30318743C>T,c.334G>A,p.D112N |