| 基因名 | 突变 |
|---|---|
| KRT73(NM_175068,keratin 73,540aa) | g.12:53002200G>C,c.1403C>G,p.T468R |
| KRT73(NM_175068,keratin 73,540aa) | g.12:53002080C>T,c.1523G>A,p.R508H |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52995098T>C,c.139A>G,p.K47E |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52995020C>T,c.217G>A,p.G73S |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52994990C>T,c.247G>A,p.G83R |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52994925C>G,c.312G>C,p.K104N |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52994896A>G,c.341T>C,p.M114T |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52994818A>T,c.419T>A,p.I140N |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52992812T>C,c.511A>G,p.N171D |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52986714G>A,c.664C>T,p.R222C |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52986253T>C,c.725A>G,p.N242S |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52986194A>G,c.784T>C,p.C262R |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52986187T>C,c.791A>G,p.Y264C |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52985381T>C,c.830A>G,p.D277G |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52985313G>A,c.898C>T,p.R300C |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52984730C>A,c.979G>T,p.V327F |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52984712C>A,c.997G>T,p.G333W |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52981627A>T,c.1098T>A,p.D366E |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52981512G>A,c.1213C>T,p.R405W |
| KRT72(NM_080747,keratin 72,511aa) | g.12:52981442C>A,c.1283G>T,p.R428L |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52946825C>T,c.37G>A,p.A13T |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52946704del,c.158del,p.53fs |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52946594C>T,c.268G>A,p.G90R |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52946543C>T,c.319G>A,p.V107I |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52946498C>T,c.364G>A,p.E122K |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52943835C>T,c.634G>A,p.V212I |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52943097C>G,c.697G>C,p.E233Q |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52942010C>T,c.904G>A,p.D302N |