| 基因名 | 突变 |
|---|---|
| KRT75(NM_004693,keratin 75,551aa) | g.12:52825839T>C,c.725A>G,p.E242G |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52824426G>A,c.934C>T,p.R312C |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52824404A>T,c.956T>A,p.I319N |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52824396C>T,c.964G>A,p.E322K |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52824363G>A,c.997C>T,p.R333C |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52824351C>T,c.1009G>A,p.E337K |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52822506C>T,c.1057G>A,p.A353T |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52822482G>A,c.1081C>T,p.R361X |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52822464T>C,c.1099A>G,p.I367V |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52822463A>T,c.1100T>A,p.I367N |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52822220C>T,c.1202G>A,p.R401Q |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52822142A>G,c.1280T>C,p.M427T |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52822128G>A,c.1294C>T,p.R432C |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52822127C>T,c.1295G>A,p.R432H |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52822050C>T,c.1372G>A,p.E458K |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52818504T>G,c.1453A>C,p.S485R |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52818419C>T,c.1538G>A,p.G513D |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52818377C>T,c.1580G>A,p.R527Q |
| KRT75(NM_004693,keratin 75,551aa) | g.12:52818308G>A,c.1649C>T,p.T550M |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52967554C>T,c.8G>A,p.R3Q |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52967435C>T,c.127G>A,p.A43T |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52967389C>T,c.173G>A,p.R58H |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52967264C>T,c.298G>A,p.G100R |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52967117C>T,c.445G>A,p.D149N |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52966428G>C,c.495C>G,p.N165K |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52966390A>T,c.533T>A,p.L178Q |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52966249T>A,c.674A>T,p.D225V |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52965173T>G,c.813A>C,p.E271D |