| 基因名 | 突变 |
|---|---|
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28993212A>G,c.2834A>G,p.D945G |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28992860G>A,c.2482G>A,p.E828K |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28991146C>T,c.2147C>T,p.A716V |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28986333A>C,c.1930A>C,p.I644L |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28986205C>T,c.1802C>T,p.A601V |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28986171G>A,c.1768G>A,p.D590N |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28986058C>A,c.1655C>A,p.T552K |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28983565T>C,c.1604T>C,p.I535T |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28983529C>T,c.1568C>T,p.P523L |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28983448A>G,c.1487A>G,p.N496S |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28983441T>C,c.1480T>C,p.C494R |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28979428G>A,c.1199G>A,p.G400E |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28979427G>A,c.1198G>A,p.G400R |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28979409G>A,c.1180G>A,p.V394M |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28970688A>G,c.587A>G,p.Y196C |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28968865G>A,c.401G>A,p.G134D |
| DSG4(NM_001134453,desmoglein 4,1059aa) | g.18:28968349C>T,c.236C>T,p.S79L |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29056101A>G,c.2878A>G,p.I960V |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29055957A>G,c.2734A>G,p.T912A |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29054294C>T,c.2312C>T,p.S771F |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29054230G>A,c.2248G>A,p.G750R |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29049247C>T,c.1832C>T,p.P611L |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29049138C>T,c.1723C>T,p.R575W |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29046693G>A,c.1612G>A,p.V538I |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29046606G>A,c.1525G>A,p.V509M |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29045300G>A,c.1291G>A,p.D431N |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29045292G>A,c.1283G>A,p.G428E |
| DSG3(NM_001944,desmoglein 3,999aa) | g.18:29044225G>A,c.1151G>A,p.R384H |