
| Genename | Variants |
|---|---|
| LCE2B(NM_014357,late cornified envelope 2B,110aa) | g.1:152659611del,c.292del,p.98fs |
| LCE2B(NM_014357,late cornified envelope 2B,110aa) | g.1:152659567G>A,c.248G>A,p.R83Q |
| LCE2B(NM_014357,late cornified envelope 2B,110aa) | g.1:152659479G>A,c.160G>A,p.G54S |
| LCE2B(NM_014357,late cornified envelope 2B,110aa) | g.1:152659471T>G,c.152T>G,p.I51S |
| LCE2B(NM_014357,late cornified envelope 2B,110aa) | g.1:152659393C>T,c.74C>T,p.P25L |
| LCE2A(NM_178428,late cornified envelope 2A,106aa) | g.1:152671642G>A,c.265G>A,p.E89K |
| LCE2A(NM_178428,late cornified envelope 2A,106aa) | g.1:152671613G>A,c.236G>A,p.R79Q |
| LCE2A(NM_178428,late cornified envelope 2A,106aa) | g.1:152671525G>A,c.148G>A,p.G50S |
| LCE2A(NM_178428,late cornified envelope 2A,106aa) | g.1:152671436G>A,c.59G>A,p.C20Y |
| LCE2A(NM_178428,late cornified envelope 2A,106aa) | g.1:152671399C>G,c.22C>G,p.Q8E |
| LCE2A(NM_178428,late cornified envelope 2A,106aa) | g.1:152671385G>A,c.8G>A,p.C3Y |
| LCE1F(NM_178354,late cornified envelope 1F,118aa) | g.1:152749091C>T,c.244C>T,p.R82W |
| LCE1F(NM_178354,late cornified envelope 1F,118aa) | g.1:152748957G>T,c.110G>T,p.C37F |
| LCE1F(NM_178354,late cornified envelope 1F,118aa) | g.1:152748895C>A,c.48C>A,p.C16X |
| LCE1E(NM_178353,late cornified envelope 1E,118aa) | g.1:152760106G>A,c.331G>A,p.G111S |
| LCE1E(NM_178353,late cornified envelope 1E,118aa) | g.1:152760080G>A,c.305G>A,p.G102D |
| LCE1E(NM_178353,late cornified envelope 1E,118aa) | g.1:152760050G>A,c.275G>A,p.S92N |
| LCE1E(NM_178353,late cornified envelope 1E,118aa) | g.1:152760034C>T,c.259C>T,p.R87C |
| LCE1E(NM_178353,late cornified envelope 1E,118aa) | g.1:152759989G>A,c.214G>A,p.G72R |
| LCE1E(NM_178353,late cornified envelope 1E,118aa) | g.1:152759963G>A,c.188G>A,p.S63N |
| LCE1E(NM_178353,late cornified envelope 1E,118aa) | g.1:152759957G>T,c.182G>T,p.G61V |
| LCE1E(NM_178353,late cornified envelope 1E,118aa) | g.1:152759950A>G,c.175A>G,p.S59G |
| LCE1E(NM_178353,late cornified envelope 1E,118aa) | g.1:152759948G>A,c.173G>A,p.G58D |
| LCE1E(NM_178353,late cornified envelope 1E,118aa) | g.1:152759900C>T,c.125C>T,p.S42F |
| LCE1E(NM_178353,late cornified envelope 1E,118aa) | g.1:152759836C>A,c.61C>A,p.P21T |
| LCE1D(NM_178352,late cornified envelope 1D,114aa) | g.1:152770613T>G,c.343T>G,p.X115G |
| LCE1D(NM_178352,late cornified envelope 1D,114aa) | g.1:152770589A>G,c.319A>G,p.S107G |
| LCE1D(NM_178352,late cornified envelope 1D,114aa) | g.1:152770533G>A,c.263G>A,p.S88N |