| 基因名 | 突变 |
|---|---|
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47103665_47103666insT,c.6280_6281insA,p.2094fs |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47098588A>C,c.6686T>G,p.V2229G |
| SETD2(NM_014159,SET domain containing 2,2564aa) | g.3:47079245T>C,c.7261A>G,p.T2421A |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122261466G>A,c.4852G>A,p.E1618K |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122261163G>A,c.4549G>A,p.V1517I |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122260947G>A,c.4333G>A,p.A1445T |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122260849G>A,c.4235G>A,p.R1412H |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122260728C>A,c.4114C>A,p.P1372T |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122260635G>C,c.4021G>C,p.G1341R |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122260549T>C,c.3935T>C,p.L1312P |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122260498C>T,c.3884C>T,p.P1295L |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122260479C>T,c.3865C>T,p.R1289W |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122255372G>A,c.3074G>A,p.R1025Q |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122248704T>C,c.1853T>C,p.V618A |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122248083C>T,c.1232C>T,p.P411L |
| SETD1B(NM_015048,SET domain containing 1B,1923aa) | g.12:122247945G>T,c.1094G>T,p.G365V |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30991042C>T,c.3935C>T,p.A1312V |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30990709G>A,c.3602G>A,p.R1201Q |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30990472C>T,c.3365C>T,p.T1122M |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30982720C>T,c.3038C>T,p.S1013L |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30980962C>G,c.2968C>G,p.R990G |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30978334G>A,c.2635G>A,p.A879T |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30977634A>G,c.2432A>G,p.N811S |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30977511G>A,c.2309G>A,p.R770Q |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30977124C>T,c.1922C>T,p.P641L |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30976989C>T,c.1787C>T,p.P596L |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30976985C>G,c.1783C>G,p.P595A |
| SETD1A(NM_014712,SET domain containing 1A,1707aa) | g.16:30976129T>A,c.1066T>A,p.S356T |