| 基因名 | 突变 |
|---|---|
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28584168C>T,c.2053G>A,p.G685R |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28581601G>A,c.2218C>T,p.P740S |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28576762C>T,c.2488G>A,p.G830S |
| DSC3(NM_024423,desmocollin 3,839aa) | g.18:28574450C>T,c.2506G>A,p.G836R |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28681903T>C,c.32A>G,p.N11S |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28672152G>A,c.266C>T,p.S89L |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28672114C>T,c.304G>A,p.E102K |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28672091T>C,c.327A>G,p.I109M |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28671070C>T,c.395G>A,p.R132H |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28666679T>C,c.802A>G,p.T268A |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28666624C>A,c.857G>T,p.G286V |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28666574C>T,c.907G>A,p.V303M |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28662899C>T,c.1070G>A,p.R357H |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28651782C>G,c.1914G>C,p.Q638H |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28649042T>C,c.2326A>G,p.I776V |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28648998_28649000del,c.2368_2370del,p.790del |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28648975C>T,c.2393G>A,p.R798Q |
| DSC2(NM_004949,desmocollin 2,847aa) | g.18:28648871G>A,c.2497C>T,p.R833C |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28739459C>T,c.97G>A,p.V33I |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28737407G>A,c.278C>T,p.S93F |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28736007T>C,c.470A>G,p.Q157R |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28728466C>T,c.767G>A,p.R256Q |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28723745T>A,c.949A>T,p.T317S |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28720147C>T,c.1378G>A,p.V460I |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28720072G>A,c.1453C>T,p.P485S |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28714093C>T,c.1877G>A,p.G626D |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28713994A>G,c.1976T>C,p.M659T |
| DSC1(NM_004948,desmocollin 1,840aa) | g.18:28713893C>T,c.2077G>A,p.A693T |