| 基因名 | 突变 |
|---|---|
| SETD4(NM_017438,SET domain containing 4,440aa) | g.21:37410477T>C,c.1159A>G,p.I387V |
| SETD4(NM_017438,SET domain containing 4,440aa) | g.21:37408526T>A,c.1212A>T,p.K404N |
| SETD4(NM_017438,SET domain containing 4,440aa) | g.21:37408491G>C,c.1247C>G,p.S416C |
| SETD3(NM_032233,SET domain containing 3,594aa) | g.14:99880255T>C,c.692A>G,p.N231S |
| SETD3(NM_032233,SET domain containing 3,594aa) | g.14:99879298G>A,c.839C>T,p.T280I |
| SETD3(NM_032233,SET domain containing 3,594aa) | g.14:99871680T>G,c.953A>C,p.N318T |
| SETD3(NM_032233,SET domain containing 3,594aa) | g.14:99870615G>A,c.1124C>T,p.P375L |
| SETD3(NM_032233,SET domain containing 3,594aa) | g.14:99865435C>T,c.1366G>A,p.D456N |
| SETD3(NM_032233,SET domain containing 3,594aa) | g.14:99865074C>G,c.1727G>C,p.R576T |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47165569G>A,c.557C>T,p.P186L |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47165548G>A,c.578C>T,p.P193L |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47165536G>A,c.590C>T,p.A197V |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47164921C>T,c.1205G>A,p.R402Q |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47164711C>T,c.1415G>A,p.R472H |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47164351G>T,c.1775C>A,p.T592K |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47163971T>C,c.2155A>G,p.N719D |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47163875G>T,c.2251C>A,p.P751T |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47163851T>C,c.2275A>G,p.K759E |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47163847A>G,c.2279T>C,p.L760P |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47163843C>T,c.2283G>A,p.M761I |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47163523T>C,c.2603A>G,p.D868G |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47163422C>G,c.2704G>C,p.E902Q |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47163343G>C,c.2783C>G,p.T928R |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47162897T>C,c.3229A>G,p.T1077A |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47162886C>T,c.3240G>A,p.M1080I |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47162486T>A,c.3640A>T,p.N1214Y |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47125452T>C,c.5818A>G,p.S1940G |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47125385G>A,c.5885C>T,p.P1962L |