| Genename | Variants |
|---|---|
| EPS8L1(NM_133180,EPS8-like 1,723aa) | g.19:55594996C>G,c.1369C>G,p.Q457E |
| EPS8L1(NM_133180,EPS8-like 1,723aa) | g.19:55593837G>C,c.1081G>C,p.G361R |
| EPS8L1(NM_133180,EPS8-like 1,723aa) | g.19:55593139A>T,c.775-2A>T,p.259Acceptor |
| EPS8L1(NM_133180,EPS8-like 1,723aa) | g.19:55587822G>A,c.10G>A,p.A4T |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51934219G>A,c.235C>T,p.L79F |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51910662C>T,c.853G>A,p.A285T |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51873967G>A,c.1313C>T,p.S438L |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51871587T>G,c.1667A>C,p.Q556P |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51869153C>T,c.1729G>A,p.V577M |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51868160C>G,c.1829G>C,p.G610A |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51860059C>T,c.2113G>A,p.D705N |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51831701G>A,c.2120C>T,p.A707V |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51829693T>C,c.2204A>G,p.N735S |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51826982A>G,c.2405T>C,p.L802P |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51826921T>C,c.2466A>G,p.I822M |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51826853T>C,c.2534A>G,p.N845S |
| EPS15(NM_001981,epidermal growth factor receptor pathway substrate 15,896aa) | g.1:51822416C>G,c.2647G>C,p.E883Q |
| EPS15L1(NM_001258376,epidermal growth factor receptor pathway substrate 15-like 1,601aa) | g.19:16528781G>A,c.1085C>T,p.S362L |
| EPS15L1(NM_001258376,epidermal growth factor receptor pathway substrate 15-like 1,601aa) | g.19:16514662G>A,c.1508C>T,p.S503L |
| EPS15L1(NM_001258376,epidermal growth factor receptor pathway substrate 15-like 1,601aa) | g.19:16514632G>T,c.1538C>A,p.T513N |
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220213579C>T,c.79G>A,p.D27N |
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220197663C>G,c.886G>C,p.A296P |
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220197625G>T,c.924C>A,p.D308E |
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220193423T>C,c.1256A>G,p.Y419C |
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220179510T>C,c.1888A>G,p.I630V |
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220170479C>A,c.2387G>T,p.G796V |
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220161969T>C,c.2738A>G,p.E913G |
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220160661G>A,c.2861C>T,p.S954L |