| Genename | Variants |
|---|---|
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942330G>A,c.5092C>T,p.R1698C |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942329C>T,c.5093G>A,p.R1698H |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942321C>T,c.5101G>A,p.V1701M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942315C>T,c.5107G>A,p.V1703M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942300C>T,c.5122G>A,p.G1708S |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942291C>T,c.5131G>A,p.D1711N |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942224G>A,c.5198C>T,p.T1733M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942188C>T,c.5234G>A,p.R1745H |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942123C>T,c.5299G>A,p.V1767M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942096C>T,c.5326G>A,p.V1776M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942069G>A,c.5353C>T,p.R1785C |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941903G>A,c.5519C>T,p.T1840M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941879G>A,c.5543C>T,p.A1848V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941832C>T,c.5590G>A,p.V1864I |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941801C>A,c.5621G>T,p.R1874L |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941642G>A,c.5780C>T,p.A1927V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941616C>T,c.5806G>A,p.A1936T |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941465G>T,c.5957C>A,p.T1986K |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941465G>A,c.5957C>T,p.T1986M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941420G>A,c.6002C>T,p.A2001V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941325G>A,c.6097C>T,p.R2033W |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941204C>T,c.6218G>A,p.R2073H |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941198T>G,c.6224A>C,p.Q2075P |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941181G>C,c.6241C>G,p.L2081V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941153C>T,c.6269G>A,p.R2090Q |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941133C>G,c.6289G>C,p.D2097H |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941126G>A,c.6296C>T,p.T2099M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144941081C>T,c.6341G>A,p.R2114K |