| 基因名 | 突变 |
|---|---|
| EXOC2(NM_018303,exocyst complex component 2,924aa) | g.6:549240T>C,c.2173A>G,p.T725A |
| EXOC2(NM_018303,exocyst complex component 2,924aa) | g.6:491150C>A,c.2596G>T,p.A866S |
| EXOC1(NM_001024924,exocyst complex component 1,894aa) | g.4:56762938G>A,c.2009G>A,p.G670E |
| EXOC1(NM_001024924,exocyst complex component 1,894aa) | g.4:56744099C>T,c.1091C>T,p.S364L |
| EXOC1(NM_001024924,exocyst complex component 1,894aa) | g.4:56738054G>A,c.1004G>A,p.R335Q |
| EXOC1(NM_001024924,exocyst complex component 1,894aa) | g.4:56730529A>G,c.392A>G,p.N131S |
| EXOC1(NM_001024924,exocyst complex component 1,894aa) | g.4:56730507C>T,c.370C>T,p.R124W |
| EXOC1(NM_001024924,exocyst complex component 1,894aa) | g.4:56724557T>C,c.68T>C,p.I23T |
| EXO5(NM_022774,exonuclease 5,373aa) | g.1:40981256C>A,c.1040C>A,p.T347N |
| EXO5(NM_022774,exonuclease 5,373aa) | g.1:40981245_40981246insG,c.1029_1030insG,p.343fs |
| EXO5(NM_022774,exonuclease 5,373aa) | g.1:40981008_40981009del,c.792_793del,p.264fs |
| EXO5(NM_022774,exonuclease 5,373aa) | g.1:40980826A>G,c.610A>G,p.M204V |
| EXO5(NM_022774,exonuclease 5,373aa) | g.1:40980820C>T,c.604C>T,p.R202C |
| EXO5(NM_022774,exonuclease 5,373aa) | g.1:40980815G>A,c.599G>A,p.R200H |
| EXO5(NM_022774,exonuclease 5,373aa) | g.1:40980731G>T,c.515G>T,p.G172V |
| EXO5(NM_022774,exonuclease 5,373aa) | g.1:40980668T>C,c.452T>C,p.L151P |
| EXO5(NM_022774,exonuclease 5,373aa) | g.1:40980617T>C,c.401T>C,p.V134A |
| EXO5(NM_022774,exonuclease 5,373aa) | g.1:40980559G>A,c.343G>A,p.D115N |
| EXO1(NM_130398,exonuclease 1,846aa) | g.1:242048680G>A,c.2276G>A,p.G759E |
| EXO1(NM_130398,exonuclease 1,846aa) | g.1:242048674C>T,c.2270C>T,p.P757L |
| EXO1(NM_130398,exonuclease 1,846aa) | g.1:242048615G>C,c.2212-1G>C,p.738Acceptor |
| EXO1(NM_130398,exonuclease 1,846aa) | g.1:242045275C>T,c.2167C>T,p.R723C |
| EXO1(NM_130398,exonuclease 1,846aa) | g.1:242042545A>G,c.2009A>G,p.E670G |
| EXO1(NM_130398,exonuclease 1,846aa) | g.1:242042505G>A,c.1969G>A,p.E657K |
| EXO1(NM_130398,exonuclease 1,846aa) | g.1:242042454C>T,c.1918C>T,p.P640S |
| EXO1(NM_130398,exonuclease 1,846aa) | g.1:242042374G>C,c.1838G>C,p.G613A |
| EXO1(NM_130398,exonuclease 1,846aa) | g.1:242042364A>G,c.1828A>G,p.S610G |
| EXO1(NM_130398,exonuclease 1,846aa) | g.1:242042301G>A,c.1765G>A,p.E589K |