| 基因名 | 突变 |
|---|---|
| KRT26(NM_181539,keratin 26,468aa) | g.17:38926605C>T,c.581G>A,p.R194H |
| KRT26(NM_181539,keratin 26,468aa) | g.17:38926554C>G,c.632G>C,p.C211S |
| KRT26(NM_181539,keratin 26,468aa) | g.17:38926528A>G,c.658T>C,p.Y220H |
| KRT26(NM_181539,keratin 26,468aa) | g.17:38926029C>G,c.946G>C,p.E316Q |
| KRT26(NM_181539,keratin 26,468aa) | g.17:38925270C>T,c.1048G>A,p.G350R |
| KRT26(NM_181539,keratin 26,468aa) | g.17:38922897A>G,c.1277T>C,p.V426A |
| KRT25(NM_181534,keratin 25,450aa) | g.17:38911363G>A,c.161C>T,p.S54L |
| KRT25(NM_181534,keratin 25,450aa) | g.17:38911327C>G,c.197G>C,p.G66A |
| KRT25(NM_181534,keratin 25,450aa) | g.17:38911211C>T,c.313G>A,p.A105T |
| KRT25(NM_181534,keratin 25,450aa) | g.17:38910714C>T,c.436G>A,p.A146T |
| KRT25(NM_181534,keratin 25,450aa) | g.17:38910115T>A,c.666A>T,p.K222N |
| KRT25(NM_181534,keratin 25,450aa) | g.17:38907532T>G,c.716A>C,p.E239A |
| KRT25(NM_181534,keratin 25,450aa) | g.17:38907448C>T,c.800G>A,p.R267H |
| KRT25(NM_181534,keratin 25,450aa) | g.17:38906839A>C,c.968T>G,p.L323R |
| KRT25(NM_181534,keratin 25,450aa) | g.17:38904588G>A,c.1294C>T,p.R432C |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38859663C>T,c.283G>A,p.G95R |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38859509T>C,c.437A>G,p.N146S |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38859497C>T,c.449G>A,p.R150H |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38859335T>C,c.611A>G,p.N204S |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38858175G>A,c.626C>T,p.A209V |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38858135del,c.666del,p.222fs |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38858134del,c.667del,p.223fs |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38857446C>A,c.801G>T,p.M267I |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38856596T>C,c.895A>G,p.T299A |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38856297G>A,c.1096C>T,p.R366C |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38855897C>G,c.1160G>C,p.G387A |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38855805A>G,c.1252T>C,p.W418R |
| KRT24(NM_019016,keratin 24,525aa) | g.17:38855772T>C,c.1285A>G,p.K429E |