| 基因名 | 突变 |
|---|---|
| KRTAP4-11(NM_033059,keratin associated protein 4-11,195aa) | g.17:39274087G>C,c.481C>G,p.L161V |
| KRTAP4-11(NM_033059,keratin associated protein 4-11,195aa) | g.17:39274069G>C,c.499C>G,p.R167G |
| KRTAP4-11(NM_033059,keratin associated protein 4-11,195aa) | g.17:39274020C>G,c.548G>C,p.S183T |
| KRTAP4-11(NM_033059,keratin associated protein 4-11,195aa) | g.17:39274006A>C,c.562T>G,p.L188V |
| KRTAP3-3(NM_033185,keratin associated protein 3-3,98aa) | g.17:39150312G>C,c.38C>G,p.T13S |
| KRTAP3-3(NM_033185,keratin associated protein 3-3,98aa) | g.17:39150232C>T,c.118G>A,p.V40I |
| KRTAP3-3(NM_033185,keratin associated protein 3-3,98aa) | g.17:39150060C>T,c.290G>A,p.G97D |
| KRTAP3-2(NM_031959,keratin associated protein 3-2,98aa) | g.17:39156104A>G,c.2T>C,p.M1T |
| KRTAP3-2(NM_031959,keratin associated protein 3-2,98aa) | g.17:39156087G>A,c.19C>T,p.R7C |
| KRTAP3-2(NM_031959,keratin associated protein 3-2,98aa) | g.17:39156084T>C,c.22A>G,p.S8G |
| KRTAP3-2(NM_031959,keratin associated protein 3-2,98aa) | g.17:39156027G>A,c.79C>T,p.R27C |
| KRTAP3-2(NM_031959,keratin associated protein 3-2,98aa) | g.17:39155948G>A,c.158C>T,p.P53L |
| KRTAP3-2(NM_031959,keratin associated protein 3-2,98aa) | g.17:39155922C>T,c.184G>A,p.V62M |
| KRTAP3-2(NM_031959,keratin associated protein 3-2,98aa) | g.17:39155882G>A,c.224C>T,p.P75L |
| KRTAP3-1(NM_031958,keratin associated protein 3-1,98aa) | g.17:39165308G>A,c.19C>T,p.R7C |
| KRTAP3-1(NM_031958,keratin associated protein 3-1,98aa) | g.17:39165307C>T,c.20G>A,p.R7H |
| KRTAP3-1(NM_031958,keratin associated protein 3-1,98aa) | g.17:39165296C>T,c.31G>A,p.V11I |
| KRTAP3-1(NM_031958,keratin associated protein 3-1,98aa) | g.17:39165230G>A,c.97C>T,p.P33S |
| KRTAP29-1(NM_001257309,keratin associated protein 29-1,341aa) | g.17:39458893G>A,c.211C>T,p.R71C |
| KRTAP29-1(NM_001257309,keratin associated protein 29-1,341aa) | g.17:39458772G>A,c.332C>T,p.S111L |
| KRTAP29-1(NM_001257309,keratin associated protein 29-1,341aa) | g.17:39458577_39458589del,c.515_527del,p.172fs |
| KRTAP29-1(NM_001257309,keratin associated protein 29-1,341aa) | g.17:39458574_39458586del,c.518_530del,p.173fs |
| KRTAP29-1(NM_001257309,keratin associated protein 29-1,341aa) | g.17:39458476A>T,c.628T>A,p.C210S |
| KRTAP29-1(NM_001257309,keratin associated protein 29-1,341aa) | g.17:39458256T>A,c.848A>T,p.D283V |
| KRTAP27-1(NM_001077711,keratin associated protein 27-1,207aa) | g.21:31709740C>T,c.247G>A,p.G83R |
| KRTAP27-1(NM_001077711,keratin associated protein 27-1,207aa) | g.21:31709731G>A,c.256C>T,p.Q86X |
| KRTAP27-1(NM_001077711,keratin associated protein 27-1,207aa) | g.21:31709703C>T,c.284G>A,p.C95Y |
| KRTAP27-1(NM_001077711,keratin associated protein 27-1,207aa) | g.21:31709691G>A,c.296C>T,p.A99V |