| 基因名 | 突变 |
|---|---|
| DENND1C(NM_024898,DENN/MADD domain containing 1C,801aa) | g.19:6467619G>T,c.2302C>A,p.P768T |
| DENND1B(NM_001195215,DENN/MADD domain containing 1B,775aa) | g.1:197643277T>A,c.149A>T,p.K50M |
| DENND1B(NM_001195215,DENN/MADD domain containing 1B,775aa) | g.1:197611867C>T,c.646G>A,p.V216M |
| DENND1B(NM_001195215,DENN/MADD domain containing 1B,775aa) | g.1:197480986C>T,c.1687G>A,p.G563S |
| DENND1B(NM_001195215,DENN/MADD domain containing 1B,775aa) | g.1:197480916G>T,c.1757C>A,p.A586E |
| DENND1B(NM_001195215,DENN/MADD domain containing 1B,775aa) | g.1:197480884T>C,c.1789A>G,p.M597V |
| DENND1B(NM_001195215,DENN/MADD domain containing 1B,775aa) | g.1:197479654A>T,c.2264T>A,p.M755K |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126433572C>T,c.451G>A,p.V151M |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126345476T>C,c.839A>G,p.D280G |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126219678C>T,c.1135G>A,p.E379K |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126146080G>A,c.1690C>T,p.R564W |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126146050C>T,c.1720G>A,p.V574I |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126145975G>A,c.1795C>T,p.P599S |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126144759G>A,c.1982C>T,p.S661L |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126144553C>T,c.2188G>A,p.A730T |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126144508G>C,c.2233C>G,p.R745G |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126144390G>T,c.2351C>A,p.A784D |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126144346G>A,c.2395C>T,p.P799S |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126144345G>A,c.2396C>T,p.P799L |
| DENND1A(NM_020946,DENN/MADD domain containing 1A,1009aa) | g.9:126144262G>A,c.2479C>T,p.P827S |
| DEK(NM_003472,DEK oncogene,375aa) | g.6:18264096C>G,c.123G>C,p.E41D |
| DEK(NM_003472,DEK oncogene,375aa) | g.6:18258580T>C,c.202A>G,p.M68V |
| DEK(NM_003472,DEK oncogene,375aa) | g.6:18256625A>G,c.419T>C,p.V140A |
| DEGS2(NM_206918,delta(4)-desaturase, sphingolipid 2,323aa) | g.14:100625902C>T,c.23G>A,p.S8N |
| DEGS2(NM_206918,delta(4)-desaturase, sphingolipid 2,323aa) | g.14:100615961C>T,c.169G>A,p.A57T |
| DEGS2(NM_206918,delta(4)-desaturase, sphingolipid 2,323aa) | g.14:100615849T>C,c.281A>G,p.N94S |
| DEGS2(NM_206918,delta(4)-desaturase, sphingolipid 2,323aa) | g.14:100615829G>A,c.301C>T,p.R101C |
| DEGS2(NM_206918,delta(4)-desaturase, sphingolipid 2,323aa) | g.14:100615820G>A,c.310C>T,p.R104C |