| 基因名 | 突变 |
|---|---|
| PLBD2(NM_173542,phospholipase B domain containing 2,589aa) | g.12:113796430C>A,c.25C>A,p.P9T |
| PLBD1(NM_024829,phospholipase B domain containing 1,553aa) | g.12:14720555_14720557del,c.74_76del,p.25_26del |
| PLBD1(NM_024829,phospholipase B domain containing 1,553aa) | g.12:14720554G>T,c.77C>A,p.P26Q |
| PLBD1(NM_024829,phospholipase B domain containing 1,553aa) | g.12:14688708del,c.729del,p.243fs |
| PLBD1(NM_024829,phospholipase B domain containing 1,553aa) | g.12:14688644C>T,c.793G>A,p.V265I |
| PLBD1(NM_024829,phospholipase B domain containing 1,553aa) | g.12:14664250A>G,c.1130T>C,p.V377A |
| PLBD1(NM_024829,phospholipase B domain containing 1,553aa) | g.12:14659926C>T,c.1313G>A,p.R438Q |
| PLBD1(NM_024829,phospholipase B domain containing 1,553aa) | g.12:14659204_14659205insAGGAAAC,c.1373-2insGTTTCCT,p.458Acceptorins |
| PLBD1(NM_024829,phospholipase B domain containing 1,553aa) | g.12:14656768G>C,c.1600C>G,p.P534A |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28865884G>A,c.4334G>A,p.R1445Q |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28865883C>T,c.4333C>T,p.R1445W |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28863817A>G,c.4123A>G,p.T1375A |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28855877G>A,c.4069G>A,p.E1357K |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28855005G>A,c.4000G>A,p.E1334K |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28854972C>A,c.3967C>A,p.P1323T |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28854958C>T,c.3953C>T,p.A1318V |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28854945C>T,c.3940C>T,p.R1314C |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28853485G>C,c.3851G>C,p.S1284T |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28847959G>A,c.3563G>A,p.R1188Q |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28847958C>T,c.3562C>T,p.R1188X |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28847926A>T,c.3530A>T,p.D1177V |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28847926A>G,c.3530A>G,p.D1177G |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28843148G>A,c.3332G>A,p.R1111Q |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28841246G>A,c.3295G>A,p.A1099T |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28841220G>A,c.3269G>A,p.R1090Q |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28836901G>A,c.3133G>A,p.E1045K |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28827625C>T,c.2960C>T,p.A987V |
| PLB1(NM_153021,phospholipase B1,1458aa) | g.2:28826834G>A,c.2776G>A,p.V926I |