| 基因名 | 突变 |
|---|---|
| KRTAP27-1(NM_001077711,keratin associated protein 27-1,207aa) | g.21:31709548T>C,c.439A>G,p.K147E |
| KRTAP27-1(NM_001077711,keratin associated protein 27-1,207aa) | g.21:31709407G>T,c.580C>A,p.P194T |
| KRTAP27-1(NM_001077711,keratin associated protein 27-1,207aa) | g.21:31709395C>T,c.592G>A,p.V198I |
| KRTAP26-1(NM_203405,keratin associated protein 26-1,210aa) | g.21:31692339G>T,c.15C>A,p.N5K |
| KRTAP26-1(NM_203405,keratin associated protein 26-1,210aa) | g.21:31692277G>T,c.77C>A,p.S26Y |
| KRTAP26-1(NM_203405,keratin associated protein 26-1,210aa) | g.21:31692173C>T,c.181G>A,p.G61S |
| KRTAP26-1(NM_203405,keratin associated protein 26-1,210aa) | g.21:31691993C>T,c.361G>A,p.G121S |
| KRTAP26-1(NM_203405,keratin associated protein 26-1,210aa) | g.21:31691895G>C,c.459C>G,p.C153W |
| KRTAP26-1(NM_203405,keratin associated protein 26-1,210aa) | g.21:31691792G>T,c.562C>A,p.P188T |
| KRTAP25-1(NM_001128598,keratin associated protein 25-1,102aa) | g.21:31661691A>G,c.118T>C,p.S40P |
| KRTAP2-4(NM_033184,keratin associated protein 2-4,128aa) | g.17:39222068C>G,c.30G>C,p.L10F |
| KRTAP2-4(NM_033184,keratin associated protein 2-4,128aa) | g.17:39221814G>A,c.284C>T,p.A95V |
| KRTAP24-1(NM_001085455,keratin associated protein 24-1,254aa) | g.21:31655162G>A,c.89C>T,p.S30F |
| KRTAP24-1(NM_001085455,keratin associated protein 24-1,254aa) | g.21:31654917C>T,c.334G>A,p.V112I |
| KRTAP24-1(NM_001085455,keratin associated protein 24-1,254aa) | g.21:31654889C>T,c.362G>A,p.S121N |
| KRTAP24-1(NM_001085455,keratin associated protein 24-1,254aa) | g.21:31654809C>T,c.442G>A,p.G148S |
| KRTAP24-1(NM_001085455,keratin associated protein 24-1,254aa) | g.21:31654638C>T,c.613G>A,p.V205M |
| KRTAP24-1(NM_001085455,keratin associated protein 24-1,254aa) | g.21:31654608G>A,c.643C>T,p.P215S |
| KRTAP2-3(NM_001165252,keratin associated protein 2-3,128aa) | g.17:39216302T>G,c.1A>C,p.M1L |
| KRTAP2-3(NM_001165252,keratin associated protein 2-3,128aa) | g.17:39216302_39216303insG,c.1insC,p.1fs |
| KRTAP2-3(NM_001165252,keratin associated protein 2-3,128aa) | g.17:39216095G>A,c.208C>T,p.Q70X |
| KRTAP2-3(NM_001165252,keratin associated protein 2-3,128aa) | g.17:39216085C>T,c.218G>A,p.C73Y |
| KRTAP2-3(NM_001165252,keratin associated protein 2-3,128aa) | g.17:39216062G>C,c.241C>G,p.P81A |
| KRTAP2-3(NM_001165252,keratin associated protein 2-3,128aa) | g.17:39216019G>A,c.284C>T,p.A95V |
| KRTAP23-1(NM_181624,keratin associated protein 23-1,65aa) | g.21:31720911C>T,c.14G>A,p.C5Y |
| KRTAP2-2(NM_033032,keratin associated protein 2-2,123aa) | g.17:39211182C>T,c.282G>A,p.W94X |
| KRTAP22-1(NM_181620,keratin associated protein 22-1,48aa) | g.21:31973525A>G,c.86A>G,p.Y29C |
| KRTAP22-1(NM_181620,keratin associated protein 22-1,48aa) | g.21:31973516T>G,c.77T>G,p.L26R |