| 基因名 | 突变 |
|---|---|
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29041370G>A,c.994G>A,p.V332M |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29039946G>T,c.656G>T,p.R219L |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29039054C>T,c.431C>T,p.T144M |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29038537G>A,c.346G>A,p.D116N |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29126558C>T,c.3209C>T,p.T1070M |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29126467G>A,c.3118G>A,p.V1040I |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29126255C>T,c.2906C>T,p.A969V |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29126108T>G,c.2759T>G,p.V920G |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29125936A>C,c.2587A>C,p.M863L |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29125819C>T,c.2470C>T,p.R824C |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29122799G>A,c.2318G>A,p.R773K |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29122618G>A,c.2137G>A,p.E713K |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29121170C>A,c.1894C>A,p.L632M |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29118909C>T,c.1847C>T,p.A616V |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29116338G>A,c.1597G>A,p.V533I |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29116333T>G,c.1592T>G,p.F531C |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29115255G>A,c.1303G>A,p.D435N |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29111109G>A,c.1174G>A,p.V392I |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29104828G>A,c.991G>A,p.E331K |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29104714A>G,c.877A>G,p.I293V |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29101156T>G,c.473T>G,p.V158G |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29101120G>T,c.437G>T,p.R146L |
| DSG2(NM_001943,desmoglein 2,1118aa) | g.18:29099850G>A,c.166G>A,p.V56M |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28935247G>A,c.3088G>A,p.A1030T |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28935239T>C,c.3080T>C,p.I1027T |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28935073G>A,c.2914G>A,p.G972S |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934927C>G,c.2768C>G,p.T923R |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934743G>A,c.2584G>A,p.V862M |