| 基因名 | 突变 |
|---|---|
| EGFL6(NM_001167890,EGF-like-domain, multiple 6,554aa) | g.X:13637303G>A,c.1124G>A,p.G375D |
| EGFL6(NM_001167890,EGF-like-domain, multiple 6,554aa) | g.X:13624615G>A,c.638G>A,p.G213E |
| EGFL6(NM_001167890,EGF-like-domain, multiple 6,554aa) | g.X:13612990G>A,c.223G>A,p.V75M |
| EGFL6(NM_001167890,EGF-like-domain, multiple 6,554aa) | g.X:13612963G>A,c.196G>A,p.E66K |
| EFTUD2(NM_001258353,elongation factor Tu GTP binding domain containing 2,972aa) | g.17:42964091C>T,c.133G>A,p.V45I |
| EFTUD2(NM_001258353,elongation factor Tu GTP binding domain containing 2,972aa) | g.17:42937346T>C,c.1787A>G,p.N596S |
| EFTUD2(NM_001258353,elongation factor Tu GTP binding domain containing 2,972aa) | g.17:42928655T>C,c.2906A>G,p.N969S |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82533742T>C,c.247A>G,p.N83D |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82530787C>G,c.592G>C,p.V198L |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82523249T>A,c.795A>T,p.K265N |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82517531T>C,c.1267A>G,p.K423E |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82512429C>G,c.1434G>C,p.E478D |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82512118G>A,c.1486C>T,p.L496F |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82511994C>A,c.1610G>T,p.R537M |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82456227T>C,c.1849A>G,p.I617V |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82444663T>C,c.2132A>G,p.K711R |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82444527C>A,c.2268G>T,p.M756I |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82444469T>C,c.2326A>G,p.M776V |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82444154G>T,c.2641C>A,p.P881T |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82443824C>T,c.2971G>A,p.A991T |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82431147C>T,c.3026G>A,p.R1009Q |
| EFTUD1(NM_024580,elongation factor Tu GTP binding domain containing 1,1120aa) | g.15:82431145C>T,c.3028G>A,p.V1010I |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23830042T>C,c.19A>G,p.T7A |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23830002G>T,c.59C>A,p.S20Y |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23829982G>A,c.79C>T,p.R27C |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23829963C>T,c.98G>A,p.R33Q |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23829943C>T,c.118G>A,p.A40T |
| EFS(NM_005864,embryonal Fyn-associated substrate,561aa) | g.14:23829490C>T,c.298G>A,p.V100M |