| 基因名 | 突变 |
|---|---|
| EXD3(NM_017820,exonuclease 3'-5' domain containing 3,876aa) | g.9:140201604C>T,c.2429G>A,p.R810Q |
| EXD3(NM_017820,exonuclease 3'-5' domain containing 3,876aa) | g.9:140201493C>T,c.2540G>A,p.R847H |
| EXD3(NM_017820,exonuclease 3'-5' domain containing 3,876aa) | g.9:140201476G>A,c.2557C>T,p.R853X |
| EXD3(NM_017820,exonuclease 3'-5' domain containing 3,876aa) | g.9:140201433G>A,c.2600C>T,p.P867L |
| EXD3(NM_017820,exonuclease 3'-5' domain containing 3,876aa) | g.9:140201415C>G,c.2618G>C,p.S873T |
| EXD2(NM_001193362,exonuclease 3'-5' domain containing 2,621aa) | g.14:69704553G>T,c.1554G>T,p.Q518H |
| EXD2(NM_001193362,exonuclease 3'-5' domain containing 2,621aa) | g.14:69704507G>A,c.1508G>A,p.R503H |
| EXD2(NM_001193362,exonuclease 3'-5' domain containing 2,621aa) | g.14:69704471T>C,c.1472T>C,p.L491S |
| EXD2(NM_001193362,exonuclease 3'-5' domain containing 2,621aa) | g.14:69704434A>G,c.1435A>G,p.K479E |
| EXD2(NM_001193362,exonuclease 3'-5' domain containing 2,621aa) | g.14:69697289G>A,c.691G>A,p.D231N |
| EXD2(NM_001193362,exonuclease 3'-5' domain containing 2,621aa) | g.14:69697203G>C,c.605G>C,p.C202S |
| EXD2(NM_001193362,exonuclease 3'-5' domain containing 2,621aa) | g.14:69676461G>A,c.274G>A,p.E92K |
| EXD1(NM_152596,exonuclease 3'-5' domain containing 1,514aa) | g.15:41483752G>A,c.578C>T,p.T193M |
| EXD1(NM_152596,exonuclease 3'-5' domain containing 1,514aa) | g.15:41483712C>G,c.618G>C,p.E206D |
| EXD1(NM_152596,exonuclease 3'-5' domain containing 1,514aa) | g.15:41476287T>C,c.1387A>G,p.K463E |
| EXD1(NM_152596,exonuclease 3'-5' domain containing 1,514aa) | g.15:41476209T>C,c.1465A>G,p.T489A |
| EWSR1(NM_013986,EWS RNA-binding protein 1,661aa) | g.22:29695789G>T,c.1894G>T,p.E632X |
| EWSR1(NM_013986,EWS RNA-binding protein 1,661aa) | g.22:29695754G>A,c.1859G>A,p.R620Q |
| EWSR1(NM_013986,EWS RNA-binding protein 1,661aa) | g.22:29693915G>A,c.1408G>A,p.G470S |
| EWSR1(NM_013986,EWS RNA-binding protein 1,661aa) | g.22:29678534A>T,c.587A>T,p.Y196F |
| EWSR1(NM_013986,EWS RNA-binding protein 1,661aa) | g.22:29674096A>G,c.322A>G,p.T108A |
| EVX2(NM_001080458,even-skipped homeobox 2,476aa) | g.2:176948425T>C,c.80A>G,p.N27S |
| EVX2(NM_001080458,even-skipped homeobox 2,476aa) | g.2:176948141A>T,c.364T>A,p.C122S |
| EVX2(NM_001080458,even-skipped homeobox 2,476aa) | g.2:176944856G>C,c.1410C>G,p.D470E |
| EVX1(NM_001989,even-skipped homeobox 1,407aa) | g.7:27285576C>A,c.756C>A,p.D252E |
| EVX1(NM_001989,even-skipped homeobox 1,407aa) | g.7:27282866C>T,c.217C>T,p.L73F |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74019710T>C,c.224A>G,p.Q75R |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74019680C>T,c.254G>A,p.R85H |