| Genename | Variants |
|---|---|
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940959C>T,c.6463G>A,p.A2155T |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940953G>A,c.6469C>T,p.L2157F |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940903C>G,c.6519G>C,p.W2173C |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940812G>A,c.6610C>T,p.R2204W |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940779G>A,c.6643C>T,p.R2215C |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940778C>T,c.6644G>A,p.R2215H |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940778C>G,c.6644G>C,p.R2215P |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940769C>T,c.6653G>A,p.R2218H |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940706C>T,c.6716G>A,p.R2239H |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940649G>A,c.6773C>T,p.T2258M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940608C>T,c.6814G>A,p.V2272I |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940331C>T,c.7091G>A,p.R2364Q |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940290C>G,c.7132G>C,p.D2378H |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144940230G>C,c.7192C>G,p.L2398V |
| EPPIN-WFDC6(NM_001198986,EPPIN-WFDC6 readthrough,179aa) | g.20:44175957C>A,c.40G>T,p.V14F |
| EPPIN-WFDC6(NM_001198986,EPPIN-WFDC6 readthrough,179aa) | g.20:44174319C>T,c.182G>A,p.C61Y |
| EPPIN-WFDC6(NM_001198986,EPPIN-WFDC6 readthrough,179aa) | g.20:44171455T>C,c.275A>G,p.H92R |
| EPPIN-WFDC6(NM_001198986,EPPIN-WFDC6 readthrough,179aa) | g.20:44171347T>G,c.383A>C,p.K128T |
| EPPIN-WFDC6(NM_001198986,EPPIN-WFDC6 readthrough,179aa) | g.20:44166704C>T,c.421G>A,p.E141K |
| EPOR(NM_000121,erythropoietin receptor,508aa) | g.19:11493887C>T,c.137G>A,p.G46E |
| EPOR(NM_000121,erythropoietin receptor,508aa) | g.19:11489147G>A,c.1040C>T,p.P347L |
| EPOR(NM_000121,erythropoietin receptor,508aa) | g.19:11489049G>C,c.1138C>G,p.P380A |
| EPOR(NM_000121,erythropoietin receptor,508aa) | g.19:11488952G>A,c.1235C>T,p.S412L |
| EPOR(NM_000121,erythropoietin receptor,508aa) | g.19:11488877C>T,c.1310G>A,p.R437H |
| EPOR(NM_000121,erythropoietin receptor,508aa) | g.19:11488727T>C,c.1460A>G,p.N487S |
| EPOR(NM_000121,erythropoietin receptor,508aa) | g.19:11488725G>A,c.1462C>T,p.P488S |
| EPO(NM_000799,erythropoietin,193aa) | g.7:100320751del,c.577del,p.193fs |
| EPO(NM_000799,erythropoietin,193aa) | g.7:100320614C>G,c.440C>G,p.S147C |