| 基因名 | 突变 |
|---|---|
| KRT39(NM_213656,keratin 39,491aa) | g.17:39115049C>T,c.1280G>A,p.G427E |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39115049C>G,c.1280G>C,p.G427A |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39114962C>T,c.1367G>A,p.R456Q |
| KRT38(NM_006771,keratin 38,456aa) | g.17:39597007C>T,c.167G>A,p.R56H |
| KRT38(NM_006771,keratin 38,456aa) | g.17:39595484G>A,c.703C>T,p.Q235X |
| KRT38(NM_006771,keratin 38,456aa) | g.17:39594980C>T,c.863G>A,p.R288H |
| KRT38(NM_006771,keratin 38,456aa) | g.17:39594846T>G,c.917A>C,p.D306A |
| KRT38(NM_006771,keratin 38,456aa) | g.17:39594766C>T,c.997G>A,p.E333K |
| KRT38(NM_006771,keratin 38,456aa) | g.17:39594516G>A,c.1070C>T,p.T357M |
| KRT38(NM_006771,keratin 38,456aa) | g.17:39594456C>G,c.1130G>C,p.R377P |
| KRT38(NM_006771,keratin 38,456aa) | g.17:39593779G>A,c.1256C>T,p.P419L |
| KRT38(NM_006771,keratin 38,456aa) | g.17:39593768A>G,c.1267T>C,p.S423P |
| KRT38(NM_006771,keratin 38,456aa) | g.17:39593722C>T,c.1313G>A,p.G438D |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39580739C>A,c.37G>T,p.G13C |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39580738C>T,c.38G>A,p.G13D |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39580660T>C,c.116A>G,p.N39S |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39580640A>C,c.136T>G,p.L46V |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39580595G>A,c.181C>T,p.P61S |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39580562T>C,c.214A>G,p.T72A |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39580559T>A,c.217A>T,p.S73C |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39580454T>C,c.322A>G,p.M108V |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39580364C>G,c.412G>C,p.E138Q |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39579148G>A,c.614C>T,p.A205V |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39579112G>A,c.650C>T,p.A217V |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39579059G>A,c.703C>T,p.Q235X |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39578655_39578656insC,c.763_764insG,p.255fs |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39578424G>T,c.917C>A,p.A306D |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39578364G>T,c.977C>A,p.T326K |