| 基因名 | 突变 |
|---|---|
| KRTAP1-4(NM_001257305,keratin associated protein 1-4,121aa) | g.17:39186168A>C,c.163T>G,p.S55A |
| KRTAP1-4(NM_001257305,keratin associated protein 1-4,121aa) | g.17:39186036G>A,c.295C>T,p.R99C |
| KRTAP1-3(NM_030966,keratin associated protein 1-3,167aa) | g.17:39191027G>A,c.47C>T,p.T16I |
| KRTAP1-3(NM_030966,keratin associated protein 1-3,167aa) | g.17:39191013C>T,c.61G>A,p.G21S |
| KRTAP1-3(NM_030966,keratin associated protein 1-3,167aa) | g.17:39190973C>G,c.101G>C,p.C34S |
| KRTAP1-3(NM_030966,keratin associated protein 1-3,167aa) | g.17:39190847C>T,c.227G>A,p.C76Y |
| KRTAP1-3(NM_030966,keratin associated protein 1-3,167aa) | g.17:39190830C>T,c.244G>A,p.G82R |
| KRTAP1-3(NM_030966,keratin associated protein 1-3,167aa) | g.17:39190758T>C,c.316A>G,p.I106V |
| KRTAP1-3(NM_030966,keratin associated protein 1-3,167aa) | g.17:39190733C>T,c.341G>A,p.R114H |
| KRTAP1-3(NM_030966,keratin associated protein 1-3,167aa) | g.17:39190641G>A,c.433C>T,p.R145C |
| KRTAP13-4(NM_181600,keratin associated protein 13-4,160aa) | g.21:31803054G>A,c.461G>A,p.R154H |
| KRTAP13-4(NM_181600,keratin associated protein 13-4,160aa) | g.21:31802880G>A,c.287G>A,p.G96D |
| KRTAP13-4(NM_181600,keratin associated protein 13-4,160aa) | g.21:31802871G>A,c.278G>A,p.R93H |
| KRTAP13-4(NM_181600,keratin associated protein 13-4,160aa) | g.21:31802768G>A,c.175G>A,p.A59T |
| KRTAP13-4(NM_181600,keratin associated protein 13-4,160aa) | g.21:31802759T>C,c.166T>C,p.W56R |
| KRTAP13-4(NM_181600,keratin associated protein 13-4,160aa) | g.21:31802631G>A,c.38G>A,p.R13H |
| KRTAP13-2(NM_181621,keratin associated protein 13-2,175aa) | g.21:31744495G>A,c.37C>T,p.R13C |
| KRTAP13-2(NM_181621,keratin associated protein 13-2,175aa) | g.21:31744474G>A,c.58C>T,p.R20C |
| KRTAP13-2(NM_181621,keratin associated protein 13-2,175aa) | g.21:31744473C>T,c.59G>A,p.R20H |
| KRTAP13-2(NM_181621,keratin associated protein 13-2,175aa) | g.21:31744440G>A,c.92C>T,p.P31L |
| KRTAP13-2(NM_181621,keratin associated protein 13-2,175aa) | g.21:31744310G>C,c.222C>G,p.S74R |
| KRTAP13-2(NM_181621,keratin associated protein 13-2,175aa) | g.21:31744287C>T,c.245G>A,p.R82H |
| KRTAP13-2(NM_181621,keratin associated protein 13-2,175aa) | g.21:31744127A>T,c.405T>A,p.C135X |
| KRTAP13-2(NM_181621,keratin associated protein 13-2,175aa) | g.21:31744062C>A,c.470G>T,p.C157F |
| KRTAP13-1(NM_181599,keratin associated protein 13-1,172aa) | g.21:31768894C>A,c.490C>A,p.P164T |
| KRTAP13-1(NM_181599,keratin associated protein 13-1,172aa) | g.21:31768847G>A,c.443G>A,p.R148H |
| KRTAP13-1(NM_181599,keratin associated protein 13-1,172aa) | g.21:31768834G>A,c.430G>A,p.V144I |
| KRTAP13-1(NM_181599,keratin associated protein 13-1,172aa) | g.21:31768571G>C,c.167G>C,p.C56S |