| 基因名 | 突变 |
|---|---|
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110354408C>T,c.1477C>T,p.P493S |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110353343C>T,c.1456C>T,p.R486W |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110353274C>T,c.1387C>T,p.R463W |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110353218G>A,c.1331G>A,p.R444H |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110352361G>A,c.1249G>A,p.E417K |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110348910G>T,c.922G>T,p.D308Y |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110346727G>T,c.864G>T,p.Q288H |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110345457G>A,c.652G>A,p.E218K |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110345415G>C,c.610G>C,p.A204P |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110345343G>A,c.538G>A,p.A180T |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110341933A>G,c.380A>G,p.K127R |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110341876G>A,c.323G>A,p.S108N |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110340947G>A,c.116G>A,p.R39H |
| TCHP(NM_032300,trichoplein, keratin filament binding,498aa) | g.12:110340895C>T,c.64C>T,p.R22X |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152086556del,c.1del,p.1fs |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152085505A>C,c.188T>G,p.L63R |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152085395G>C,c.298C>G,p.R100G |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152085253T>G,c.440A>C,p.E147A |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084984C>G,c.709G>C,p.V237L |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084979G>C,c.714C>G,p.F238L |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084663C>G,c.1030G>C,p.E344Q |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084651C>T,c.1042G>A,p.E348K |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084405C>G,c.1288G>C,p.E430Q |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084395C>T,c.1298G>A,p.R433K |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084302G>A,c.1391C>T,p.T464M |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084231A>G,c.1462T>C,p.W488R |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084221A>C,c.1472T>G,p.L491R |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084216C>G,c.1477G>C,p.E493Q |