| 基因名 | 突变 |
|---|---|
| PKP2(NM_004572,plakophilin 2,881aa) | g.12:33031089G>A,c.725C>T,p.T242M |
| PKP2(NM_004572,plakophilin 2,881aa) | g.12:33030850C>T,c.964G>A,p.G322S |
| PKP2(NM_004572,plakophilin 2,881aa) | g.12:33030802T>C,c.1012A>G,p.T338A |
| PKP2(NM_004572,plakophilin 2,881aa) | g.12:33021950C>T,c.1081G>A,p.E361K |
| PKP2(NM_004572,plakophilin 2,881aa) | g.12:33021934A>G,c.1097T>C,p.L366P |
| PKP2(NM_004572,plakophilin 2,881aa) | g.12:33021917C>G,c.1114G>C,p.A372P |
| PKP2(NM_004572,plakophilin 2,881aa) | g.12:33003841G>A,c.1237C>T,p.R413X |
| PKP2(NM_004572,plakophilin 2,881aa) | g.12:33003706T>C,c.1372A>G,p.I458V |
| PKP2(NM_004572,plakophilin 2,881aa) | g.12:32994058A>C,c.1592T>G,p.I531S |
| PKP2(NM_004572,plakophilin 2,881aa) | g.12:32955486G>A,c.2150C>T,p.P717L |
| PKP2(NM_004572,plakophilin 2,881aa) | g.12:32949101G>T,c.2431C>A,p.R811S |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201294910C>T,c.2113C>T,p.R705W |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201294893A>T,c.2096A>T,p.K699M |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201293617G>A,c.1805G>A,p.R602H |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201292223G>A,c.1649G>A,p.R550H |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201291209A>G,c.1514A>G,p.Y505C |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201291200G>A,c.1505G>A,p.R502H |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201289498T>C,c.1399T>C,p.C467R |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201289487C>T,c.1388C>T,p.A463V |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201288982C>A,c.1271C>A,p.P424Q |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201288955G>A,c.1244G>A,p.G415D |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201286760G>A,c.907G>A,p.V303I |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201282573A>G,c.586A>G,p.I196V |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201282490G>A,c.503G>A,p.R168H |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201282469G>A,c.482G>A,p.C161Y |
| PKP1(NM_000299,plakophilin 1 (ectodermal dysplasia/skin fragility syndrome),747aa) | g.1:201282462C>A,c.475C>A,p.L159I |
| PKNOX2(NM_022062,PBX/knotted 1 homeobox 2,472aa) | g.11:125301229G>A,c.1360G>A,p.E454K |
| PKNOX2(NM_022062,PBX/knotted 1 homeobox 2,472aa) | g.11:125301193_125301195del,c.1324_1326del,p.442del |