| 基因名 | 突变 |
|---|---|
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934707T>G,c.2548T>G,p.S850A |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934681A>T,c.2522A>T,p.Y841F |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934674G>A,c.2515G>A,p.E839K |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934621T>A,c.2462T>A,p.L821Q |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934569G>A,c.2410G>A,p.G804S |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934410C>A,c.2251C>A,p.L751M |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934375T>C,c.2216T>C,p.I739T |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934374A>G,c.2215A>G,p.I739V |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934326A>G,c.2167A>G,p.I723V |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934293C>T,c.2134C>T,p.R712C |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28934280T>A,c.2121T>A,p.D707E |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28923906A>G,c.1839A>G,p.I613M |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28919916T>G,c.1615T>G,p.L539V |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28919913G>A,c.1612G>A,p.D538N |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28919911A>G,c.1610A>G,p.K537R |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28919884A>C,c.1583A>C,p.Y528S |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28919794C>A,c.1493C>A,p.T498N |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28919779A>C,c.1478A>C,p.N493T |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28914021G>T,c.861G>T,p.L287F |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28913599C>T,c.732C>T,p.G244G |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28911802G>A,c.656G>A,p.R219Q |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28911778T>C,c.632T>C,p.I211T |
| DSG1(NM_001942,desmoglein 1,1049aa) | g.18:28898294A>G,c.31A>G,p.M11V |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116758248_116758250del,c.2617_2619del,p.873del |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116758059C>G,c.2428C>G,p.R810G |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116757318C>T,c.1687C>T,p.P563S |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116757019A>G,c.1388A>G,p.N463S |
| DSE(NM_013352,dermatan sulfate epimerase,958aa) | g.6:116757012G>A,c.1381G>A,p.A461T |