| 基因名 | 突变 |
|---|---|
| KRT15(NM_002275,keratin 15,456aa) | g.17:39671917C>G,c.1054G>C,p.E352Q |
| KRT15(NM_002275,keratin 15,456aa) | g.17:39671724T>C,c.1247A>G,p.K416R |
| KRT15(NM_002275,keratin 15,456aa) | g.17:39670912G>C,c.1262C>G,p.A421G |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39742999G>A,c.88C>T,p.R30C |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39742948C>T,c.139G>A,p.G47R |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39742921G>A,c.166C>T,p.R56C |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39742899C>T,c.188G>A,p.C63Y |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39742885C>T,c.202G>A,p.G68S |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39742807C>T,c.280G>A,p.A94T |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39742653A>G,c.434T>C,p.V145A |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39742586C>A,c.501G>T,p.K167N |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39742581A>G,c.506T>C,p.I169T |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39739524C>T,c.1237G>A,p.A413T |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39739512G>A,c.1249C>T,p.R417C |
| KRT14(NM_000526,keratin 14,472aa) | g.17:39738752C>T,c.1354G>A,p.V452I |
| KRT13(NM_153490,keratin 13,458aa) | g.17:39661433C>T,c.370G>A,p.A124T |
| KRT13(NM_153490,keratin 13,458aa) | g.17:39661366G>C,c.437C>G,p.A146G |
| KRT13(NM_153490,keratin 13,458aa) | g.17:39659913G>A,c.560C>T,p.A187V |
| KRT13(NM_153490,keratin 13,458aa) | g.17:39659320C>T,c.766G>A,p.G256S |
| KRT13(NM_153490,keratin 13,458aa) | g.17:39659194T>C,c.892A>G,p.T298A |
| KRT13(NM_153490,keratin 13,458aa) | g.17:39658815G>A,c.1055C>T,p.T352M |
| KRT13(NM_153490,keratin 13,458aa) | g.17:39658744C>T,c.1126G>A,p.E376K |
| KRT13(NM_153490,keratin 13,458aa) | g.17:39658653C>T,c.1217G>A,p.R406H |
| KRT13(NM_153490,keratin 13,458aa) | g.17:39657609C>T,c.1276G>A,p.V426I |
| KRT13(NM_153490,keratin 13,458aa) | g.17:39657599C>T,c.1286G>A,p.R429H |
| KRT13(NM_153490,keratin 13,458aa) | g.17:39657519G>A,c.1366C>T,p.R456C |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39023396G>A,c.43C>T,p.P15S |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39023381G>A,c.58C>T,p.R20W |