| Genename | Variants |
|---|---|
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144944735C>A,c.2687G>T,p.G896V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144944502T>C,c.2920A>G,p.M974V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144944460C>T,c.2962G>A,p.V988M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144944460C>A,c.2962G>T,p.V988L |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144944456C>T,c.2966G>A,p.R989H |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144944399A>C,c.3023T>G,p.I1008S |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144944226G>A,c.3196C>T,p.R1066C |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144944225C>T,c.3197G>A,p.R1066H |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144943950G>A,c.3472C>T,p.R1158W |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144943745G>A,c.3677C>T,p.T1226M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144943712G>A,c.3710C>T,p.A1237V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144943442T>C,c.3980A>G,p.Y1327C |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144943199G>A,c.4223C>T,p.A1408V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144943196C>T,c.4226G>A,p.R1409Q |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144943140C>T,c.4282G>A,p.G1428R |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144943082G>A,c.4340C>T,p.A1447V |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942984C>T,c.4438G>A,p.A1480T |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942912C>T,c.4510G>A,p.A1504T |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942903T>C,c.4519A>G,p.T1507A |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942796C>A,c.4626G>T,p.K1542N |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942794G>A,c.4628C>T,p.T1543M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942635A>C,c.4787T>G,p.L1596R |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942633G>A,c.4789C>T,p.R1597W |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942570C>T,c.4852G>A,p.V1618M |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942477C>T,c.4945G>A,p.V1649I |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942471C>T,c.4951G>A,p.G1651S |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942413T>C,c.5009A>G,p.D1670G |
| EPPK1(NM_031308,epiplakin 1,2420aa) | g.8:144942362G>A,c.5060C>T,p.T1687M |