| 基因名 | 突变 |
|---|---|
| KRT74(NM_175053,keratin 74,529aa) | g.12:52965165A>G,c.821T>C,p.F274S |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52964497C>T,c.964G>A,p.A322T |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52963690G>A,c.1087C>T,p.R363W |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52962167T>C,c.1141A>G,p.S381G |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52962050G>A,c.1258C>T,p.R420W |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52961980C>T,c.1328G>A,p.R443H |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52960884C>T,c.1459G>A,p.A487T |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52960836T>C,c.1507A>G,p.T503A |
| KRT74(NM_175053,keratin 74,529aa) | g.12:52960829G>A,c.1514C>T,p.A505V |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53012128C>T,c.181G>A,p.V61M |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53012086G>A,c.223C>T,p.R75W |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53012085C>T,c.224G>A,p.R75Q |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53012079C>T,c.230G>A,p.R77Q |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53012019G>A,c.290C>T,p.S97L |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53010152C>G,c.460G>C,p.E154Q |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53010032G>C,c.580C>G,p.L194V |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53009995G>A,c.617C>T,p.S206L |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53009978G>A,c.634C>T,p.R212C |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53008439G>A,c.743C>T,p.T248M |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53007516C>T,c.940G>A,p.A314T |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53007492C>T,c.964G>A,p.E322K |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53005009C>G,c.1089G>C,p.E363D |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53004603G>A,c.1127C>T,p.T376M |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53004545C>G,c.1185G>C,p.K395N |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53004496G>A,c.1234C>T,p.R412W |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53004486C>T,c.1244G>A,p.R415H |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53004426C>T,c.1304G>A,p.R435H |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53004398C>T,c.1331+1G>A,p.444Donor |