| 基因名 | 突变 |
|---|---|
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7581198A>G,c.4775A>G,p.K1592R |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7581173G>A,c.4750G>A,p.A1584T |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7581032C>T,c.4609C>T,p.R1537C |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7580958A>G,c.4535A>G,p.Y1512C |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7580445G>A,c.4022G>A,p.R1341H |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7580346G>A,c.3923G>A,p.R1308Q |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7580285A>C,c.3862A>C,p.K1288Q |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7580222C>T,c.3799C>T,p.R1267X |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7580124A>G,c.3701A>G,p.N1234S |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7580069A>G,c.3646A>G,p.I1216V |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7576619G>A,c.2723G>A,p.R908H |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7575687C>T,c.2596C>T,p.R866C |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7571629G>A,c.1715G>A,p.R572Q |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7569486C>T,c.1487C>T,p.T496M |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7569480A>T,c.1481A>T,p.Y494F |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7566613C>T,c.943C>T,p.R315C |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7565727A>T,c.913A>T,p.I305F |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7565703G>A,c.889G>A,p.D297N |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7558419A>G,c.344A>G,p.N115S |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7556049A>G,c.269A>G,p.Q90R |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7542236G>A,c.88G>A,p.V30M |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7542186C>T,c.38C>T,p.T13I |
| DSP(NM_004415,desmoplakin,2871aa) | g.6:7542148_7542149insA,c.1insA,p.1fs |
| DSN1(NM_001145316,DSN1, MIS12 kinetochore complex component,356aa) | g.20:35399448del,c.183del,p.61fs |
| DSN1(NM_001145316,DSN1, MIS12 kinetochore complex component,356aa) | g.20:35390900T>C,c.554A>G,p.D185G |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28993539T>C,c.3161T>C,p.I1054T |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28993504G>A,c.3126G>A,p.M1042I |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28993231T>G,c.2853T>G,p.N951K |