| 基因名 | 突变 |
|---|---|
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220160514C>T,c.3008G>A,p.G1003E |
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220156704T>C,c.3127A>G,p.I1043V |
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220154105G>A,c.3548C>T,p.A1183V |
| EPRS(NM_004446,glutamyl-prolyl-tRNA synthetase,1512aa) | g.1:220142231G>A,c.4456C>T,p.L1486F |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946932C>T,c.490G>A,p.A164T |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946818C>T,c.604G>A,p.D202N |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946799C>T,c.623G>A,p.R208Q |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946751G>A,c.671C>T,p.S224L |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946602G>A,c.820C>T,p.R274C |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946569C>T,c.853G>A,p.G285S |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946478G>A,c.944C>T,p.A315V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946271C>T,c.1151G>A,p.G384E |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946188G>A,c.1234C>T,p.R412W |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946164G>A,c.1258C>T,p.R420C |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946134G>A,c.1288C>T,p.R430W |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946124G>A,c.1298C>T,p.S433L |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144946101C>T,c.1321G>A,p.G441S |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144945912G>A,c.1510C>T,p.R504W |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144945848G>A,c.1574C>T,p.A525V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144945792T>C,c.1630A>G,p.K544E |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144945672C>T,c.1750G>A,p.E584K |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144945618C>T,c.1804G>A,p.V602M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144945519G>A,c.1903C>T,p.L635F |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144945510C>T,c.1912G>A,p.G638S |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144945386G>A,c.2036C>T,p.A679V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144945213G>A,c.2209C>T,p.R737C |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144945191T>C,c.2231A>G,p.Y744C |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144944807G>A,c.2615C>T,p.T872M |