| 基因名 | 突变 |
|---|---|
| KRT71(NM_033448,keratin 71,523aa) | g.12:52942000C>T,c.914G>A,p.R305H |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52941699G>A,c.1046C>T,p.S349L |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52941682T>A,c.1063A>T,p.I355F |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52940251G>A,c.1144C>T,p.R382W |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52940197C>T,c.1198G>A,p.A400T |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52938497A>C,c.1391T>G,p.V464G |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52938474C>A,c.1414G>T,p.V472F |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52938420C>T,c.1468G>A,p.V490M |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52938321G>A,c.1567C>T,p.R523W |
| KRT71(NM_033448,keratin 71,523aa) | g.12:52938320C>T,c.1568G>A,p.R523Q |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52867520A>G,c.2T>C,p.M1T |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52866060C>T,c.545G>A,p.R182Q |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52865940C>A,c.665G>T,p.R222M |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52865925C>T,c.680G>A,p.S227N |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52865907C>T,c.698G>A,p.G233D |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52865904C>T,c.701G>A,p.R234H |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52864990C>T,c.1003G>A,p.A335T |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52864335C>T,c.1157G>A,p.R386H |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52863213C>T,c.1441G>A,p.V481I |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52863198C>T,c.1456G>A,p.V486I |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52862997T>G,c.1544A>C,p.Y515S |
| KRT6C(NM_173086,keratin 6C,564aa) | g.12:52862928C>G,c.1613G>C,p.G538A |
| KRT6B(NM_005555,keratin 6B,564aa) | g.12:52845804G>A,c.59C>T,p.A20V |
| KRT6B(NM_005555,keratin 6B,564aa) | g.12:52845801T>C,c.62A>G,p.N21S |
| KRT6B(NM_005555,keratin 6B,564aa) | g.12:52845688G>T,c.175C>A,p.R59S |
| KRT6B(NM_005555,keratin 6B,564aa) | g.12:52845574C>T,c.289G>A,p.G97R |
| KRT6B(NM_005555,keratin 6B,564aa) | g.12:52845531C>T,c.332G>A,p.G111D |
| KRT6B(NM_005555,keratin 6B,564aa) | g.12:52845435C>T,c.428G>A,p.S143N |