| 基因名 | 突变 |
|---|---|
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23829369G>T,c.419C>A,p.A140D |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23829220C>T,c.467G>A,p.R156Q |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23829164G>A,c.523C>T,p.R175W |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23829080C>T,c.607G>A,p.D203N |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23828978C>T,c.709G>A,p.E237K |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23828893G>A,c.794C>T,p.S265F |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23828857T>C,c.830A>G,p.Q277R |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23828143G>A,c.1193C>T,p.P398L |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23826643C>T,c.1478G>A,p.R493Q |
| EFR3B(NM_014971,EFR3 homolog B (S. cerevisiae),817aa) | g.2:25366667A>T,c.1986A>T,p.E662D |
| EFR3B(NM_014971,EFR3 homolog B (S. cerevisiae),817aa) | g.2:25366648G>A,c.1967G>A,p.R656H |
| EFR3B(NM_014971,EFR3 homolog B (S. cerevisiae),817aa) | g.2:25360351C>T,c.1702C>T,p.R568C |
| EFR3B(NM_014971,EFR3 homolog B (S. cerevisiae),817aa) | g.2:25359453G>A,c.1546G>A,p.V516I |
| EFR3A(NM_015137,EFR3 homolog A (S. cerevisiae),821aa) | g.8:132988364A>G,c.1250A>G,p.H417R |
| EFR3A(NM_015137,EFR3 homolog A (S. cerevisiae),821aa) | g.8:132982824A>G,c.1093A>G,p.N365D |
| EFR3A(NM_015137,EFR3 homolog A (S. cerevisiae),821aa) | g.8:132982822T>C,c.1091T>C,p.V364A |
| EFR3A(NM_015137,EFR3 homolog A (S. cerevisiae),821aa) | g.8:132982803G>C,c.1072G>C,p.G358R |
| EFR3A(NM_015137,EFR3 homolog A (S. cerevisiae),821aa) | g.8:132982786A>G,c.1055A>G,p.E352G |
| EFR3A(NM_015137,EFR3 homolog A (S. cerevisiae),821aa) | g.8:132968053A>G,c.677A>G,p.K226R |
| EFR3A(NM_015137,EFR3 homolog A (S. cerevisiae),821aa) | g.8:132966167T>G,c.591T>G,p.I197M |
| EFR3A(NM_015137,EFR3 homolog A (S. cerevisiae),821aa) | g.8:132958819A>G,c.305A>G,p.H102R |
| EFR3A(NM_015137,EFR3 homolog A (S. cerevisiae),821aa) | g.8:132952788G>A,c.53G>A,p.R18H |
| EFR3A(NM_015137,EFR3 homolog A (S. cerevisiae),821aa) | g.8:132952745G>T,c.11-1G>T,p.4Acceptor |
| EFNB3(NM_001406,ephrin-B3,340aa) | g.17:7612626G>A,c.755G>A,p.R252Q |
| EFNB3(NM_001406,ephrin-B3,340aa) | g.17:7611350G>A,c.197G>A,p.R66Q |
| EFNB3(NM_001406,ephrin-B3,340aa) | g.17:7608992T>G,c.76T>G,p.S26A |
| EFNB2(NM_004093,ephrin-B2,333aa) | g.13:107145743G>A,c.647C>T,p.S216L |
| EFNA5(NM_001962,ephrin-A5,228aa) | g.5:107006213G>A,c.102C>T,p.V34V |