| 基因名 | 突变 |
|---|---|
| DEGS2(NM_206918,delta(4)-desaturase, sphingolipid 2,323aa) | g.14:100615691G>T,c.439C>A,p.R147S |
| DEGS2(NM_206918,delta(4)-desaturase, sphingolipid 2,323aa) | g.14:100615586C>T,c.544G>A,p.V182M |
| DEGS1(NM_003676,delta(4)-desaturase, sphingolipid 1,323aa) | g.1:224377996A>G,c.800A>G,p.N267S |
| DEGS1(NM_003676,delta(4)-desaturase, sphingolipid 1,323aa) | g.1:224377767G>A,c.571G>A,p.V191M |
| DEGS1(NM_003676,delta(4)-desaturase, sphingolipid 1,323aa) | g.1:224371065C>A,c.27C>A,p.D9E |
| DEFB4A(NM_004942,defensin, beta 4A,64aa) | g.8:7752282G>A,c.48G>A,p.M16I |
| DEFB1(NM_005218,defensin, beta 1,68aa) | g.8:6728298C>T,c.112G>A,p.V38I |
| DEFB1(NM_005218,defensin, beta 1,68aa) | g.8:6728298C>A,c.112G>T,p.V38F |
| DEFB1(NM_005218,defensin, beta 1,68aa) | g.8:6728230G>T,c.180C>A,p.Y60X |
| DEFB135(NM_001033017,defensin, beta 135,77aa) | g.8:11842019G>A,c.154G>A,p.E52K |
| DEFB134(NM_001033019,defensin, beta 134,66aa) | g.8:11853732A>G,c.29T>C,p.F10S |
| DEFB133(NM_001166478,defensin, beta 133,61aa) | g.6:49913927C>T,c.73G>A,p.V25M |
| DEFB132(NM_207469,defensin, beta 132,95aa) | g.20:239946A>C,c.287A>C,p.X96S |
| DEFB132(NM_207469,defensin, beta 132,95aa) | g.20:239937T>C,c.278T>C,p.V93A |
| DEFB132(NM_207469,defensin, beta 132,95aa) | g.20:239936G>A,c.277G>A,p.V93I |
| DEFB132(NM_207469,defensin, beta 132,95aa) | g.20:239931C>T,c.272C>T,p.T91M |
| DEFB132(NM_207469,defensin, beta 132,95aa) | g.20:239867C>T,c.208C>T,p.L70F |
| DEFB132(NM_207469,defensin, beta 132,95aa) | g.20:239826G>A,c.167G>A,p.C56Y |
| DEFB132(NM_207469,defensin, beta 132,95aa) | g.20:239804T>C,c.145T>C,p.C49R |
| DEFB132(NM_207469,defensin, beta 132,95aa) | g.20:239781G>C,c.122G>C,p.W41S |
| DEFB132(NM_207469,defensin, beta 132,95aa) | g.20:239757G>T,c.98G>T,p.G33V |
| DEFB132(NM_207469,defensin, beta 132,95aa) | g.20:238438G>C,c.19G>C,p.V7L |
| DEFB132(NM_207469,defensin, beta 132,95aa) | g.20:238436_238441del,c.17_22del,p.6_8del |
| DEFB129(NM_080831,defensin, beta 129,183aa) | g.20:210371C>T,c.511C>T,p.P171S |
| DEFB129(NM_080831,defensin, beta 129,183aa) | g.20:210306C>G,c.446C>G,p.T149S |
| DEFB129(NM_080831,defensin, beta 129,183aa) | g.20:210225C>T,c.365C>T,p.A122V |
| DEFB129(NM_080831,defensin, beta 129,183aa) | g.20:210144G>T,c.284G>T,p.R95I |
| DEFB129(NM_080831,defensin, beta 129,183aa) | g.20:210048T>C,c.188T>C,p.I63T |