| 基因名 | 突变 |
|---|---|
| KRT12(NM_000223,keratin 12,494aa) | g.17:39023279C>T,c.160G>A,p.G54R |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39023128C>T,c.311G>A,p.S104N |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39022440T>C,c.617A>G,p.N206S |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39021192G>A,c.673C>T,p.R225C |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39021150G>C,c.715C>G,p.L239V |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39021137G>A,c.728C>T,p.T243I |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39021078T>C,c.787A>G,p.M263V |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39020022A>G,c.902T>C,p.M301T |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39019462A>C,c.1229T>G,p.V410G |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39017995C>T,c.1403G>A,p.R468Q |
| KRT12(NM_000223,keratin 12,494aa) | g.17:39017974T>C,c.1424A>G,p.Q475R |
| KRT10(NM_000421,keratin 10,584aa) | g.17:38978766_38978768del,c.70_72del,p.24del |
| KRT10(NM_000421,keratin 10,584aa) | g.17:38978713G>A,c.125C>T,p.S42F |
| KRT10(NM_000421,keratin 10,584aa) | g.17:38978536A>C,c.302T>G,p.I101S |
| KRT10(NM_000421,keratin 10,584aa) | g.17:38978462C>T,c.376G>A,p.G126S |
| KRT10(NM_000421,keratin 10,584aa) | g.17:38977344G>A,c.653C>T,p.A218V |
| KRT10(NM_000421,keratin 10,584aa) | g.17:38975794G>A,c.1348C>T,p.R450C |
| KRT10(NM_000421,keratin 10,584aa) | g.17:38975369T>G,c.1418A>C,p.Y473S |
| KRT10(NM_000421,keratin 10,584aa) | g.17:38975328G>A,c.1459C>T,p.H487Y |
| KRT10(NM_000421,keratin 10,584aa) | g.17:38975232T>C,c.1555A>G,p.S519G |
| KRT10(NM_000421,keratin 10,584aa) | g.17:38975208T>C,c.1579A>G,p.S527G |
| KRT10(NM_000421,keratin 10,584aa) | g.17:38975103_38975104insGCTGCCGCCGCCGTATCCGCCGCCGGAGCT,c.1683_1684insAGCTCCGGCGGCGGATACGGCGGCGGCAGC,p.561_562ins10aa |
| KRR1(NM_007043,KRR1, small subunit (SSU) processome component, homolog (yeast),381aa) | g.12:75900618T>C,c.337A>G,p.I113V |
| KRR1(NM_007043,KRR1, small subunit (SSU) processome component, homolog (yeast),381aa) | g.12:75900382C>T,c.401G>A,p.R134Q |
| KRR1(NM_007043,KRR1, small subunit (SSU) processome component, homolog (yeast),381aa) | g.12:75897811C>A,c.704G>T,p.R235L |
| KRIT1(NM_194455,KRIT1, ankyrin repeat containing,736aa) | g.7:91864857T>C,c.589A>G,p.T197A |
| KRIT1(NM_194455,KRIT1, ankyrin repeat containing,736aa) | g.7:91851226A>G,c.1553T>C,p.V518A |
| KRIT1(NM_194455,KRIT1, ankyrin repeat containing,736aa) | g.7:91842666C>T,c.1868G>A,p.R623H |