| 基因名 | 突变 |
|---|---|
| KRT84(NM_033045,keratin 84,600aa) | g.12:52771916G>A,c.1705C>T,p.P569S |
| KRT84(NM_033045,keratin 84,600aa) | g.12:52771901C>G,c.1720G>C,p.G574R |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52713145G>A,c.388C>T,p.R130C |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52713088G>A,c.445C>T,p.R149C |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52713036G>C,c.497C>G,p.T166S |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52713019C>T,c.514G>A,p.E172K |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52711747C>A,c.601G>T,p.E201X |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52711549G>T,c.666C>A,p.C222X |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52711548C>T,c.667G>A,p.A223T |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52711539G>A,c.676C>T,p.R226C |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52710801G>A,c.757C>T,p.R253C |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52710721G>C,c.837C>G,p.I279M |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52709122C>G,c.1268G>C,p.C423S |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52709104A>T,c.1286T>A,p.V429E |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52708558C>T,c.1339G>A,p.V447M |
| KRT83(NM_002282,keratin 83,493aa) | g.12:52708420G>A,c.1477C>T,p.H493Y |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52800023_52800024del,c.38_39del,p.13fs |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52799985C>T,c.77G>A,p.R26Q |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52799923G>A,c.139C>T,p.R47X |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52799782G>A,c.280C>T,p.P94S |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52799769T>C,c.293A>G,p.N98S |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52797617G>A,c.488C>T,p.T163I |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52794351A>G,c.737T>C,p.L246P |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52794319A>T,c.769T>A,p.Y257N |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52790684C>T,c.1051G>A,p.E351K |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52788945C>G,c.1356G>C,p.E452D |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52788928G>A,c.1373C>T,p.T458M |
| KRT82(NM_033033,keratin 82,513aa) | g.12:52788814C>T,c.1487G>A,p.R496Q |