| 基因名 | 突变 |
|---|---|
| KRT28(NM_181535,keratin 28,464aa) | g.17:38956007A>G,c.139T>C,p.C47R |
| KRT28(NM_181535,keratin 28,464aa) | g.17:38955991C>T,c.155G>A,p.G52D |
| KRT28(NM_181535,keratin 28,464aa) | g.17:38955961G>A,c.185C>T,p.A62V |
| KRT28(NM_181535,keratin 28,464aa) | g.17:38955770C>T,c.376G>A,p.G126R |
| KRT28(NM_181535,keratin 28,464aa) | g.17:38955754C>T,c.392G>A,p.R131H |
| KRT28(NM_181535,keratin 28,464aa) | g.17:38954612C>G,c.565G>C,p.V189L |
| KRT28(NM_181535,keratin 28,464aa) | g.17:38954564G>A,c.613C>T,p.L205F |
| KRT28(NM_181535,keratin 28,464aa) | g.17:38950250T>C,c.1027A>G,p.T343A |
| KRT28(NM_181535,keratin 28,464aa) | g.17:38950184C>T,c.1093G>A,p.E365K |
| KRT28(NM_181535,keratin 28,464aa) | g.17:38948759G>T,c.1315C>A,p.L439I |
| KRT28(NM_181535,keratin 28,464aa) | g.17:38948714T>C,c.1360A>G,p.T454A |
| KRT27(NM_181537,keratin 27,459aa) | g.17:38938700C>T,c.46G>A,p.G16R |
| KRT27(NM_181537,keratin 27,459aa) | g.17:38938591C>G,c.155G>C,p.S52T |
| KRT27(NM_181537,keratin 27,459aa) | g.17:38938316C>T,c.430G>A,p.E144K |
| KRT27(NM_181537,keratin 27,459aa) | g.17:38936665T>G,c.571A>C,p.I191L |
| KRT27(NM_181537,keratin 27,459aa) | g.17:38936659C>T,c.577G>A,p.G193S |
| KRT27(NM_181537,keratin 27,459aa) | g.17:38935980C>T,c.818G>A,p.R273K |
| KRT27(NM_181537,keratin 27,459aa) | g.17:38935880C>T,c.847-1G>A,p.283Acceptor |
| KRT27(NM_181537,keratin 27,459aa) | g.17:38935876C>T,c.850G>A,p.A284T |
| KRT27(NM_181537,keratin 27,459aa) | g.17:38935812A>G,c.914T>C,p.I305T |
| KRT27(NM_181537,keratin 27,459aa) | g.17:38933839T>A,c.1118A>T,p.Q373L |
| KRT27(NM_181537,keratin 27,459aa) | g.17:38933388A>C,c.1243T>G,p.S415A |
| KRT26(NM_181539,keratin 26,468aa) | g.17:38928260C>T,c.106G>A,p.G36R |
| KRT26(NM_181539,keratin 26,468aa) | g.17:38928081_38928094del,c.272_285del,p.91fs |
| KRT26(NM_181539,keratin 26,468aa) | g.17:38928019T>C,c.347A>G,p.K116R |
| KRT26(NM_181539,keratin 26,468aa) | g.17:38928014A>G,c.352T>C,p.W118R |
| KRT26(NM_181539,keratin 26,468aa) | g.17:38927489C>G,c.442-1G>C,p.148Acceptor |
| KRT26(NM_181539,keratin 26,468aa) | g.17:38926621C>T,c.565G>A,p.D189N |