| 基因名 | 突变 |
|---|---|
| ADAMTSL5(NM_213604,ADAMTS-like 5,471aa) | g.19:1506198G>A,c.1232C>T,p.A411V |
| ADAMTSL5(NM_213604,ADAMTS-like 5,471aa) | g.19:1506063G>A,c.1367C>T,p.P456L |
| ADAMTSL5(NM_213604,ADAMTS-like 5,471aa) | g.19:1506031G>A,c.1399C>T,p.R467W |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150532625C>G,c.3178C>G,p.R1060G |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150532376G>A,c.3083G>A,p.R1028H |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150532371C>G,c.3078C>G,p.S1026R |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150531905C>A,c.2906C>A,p.A969D |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150531772G>A,c.2773G>A,p.E925K |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150531507G>A,c.2629G>A,p.G877R |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150531469G>A,c.2591G>A,p.R864Q |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150531468C>T,c.2590C>T,p.R864W |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150531078A>G,c.2512A>G,p.M838V |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150531046C>T,c.2480C>T,p.P827L |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150530991C>T,c.2425C>T,p.R809C |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150530584C>T,c.2341C>T,p.R781C |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150530555G>A,c.2312G>A,p.R771Q |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150530554C>T,c.2311C>T,p.R771W |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150530548C>G,c.2305C>G,p.L769V |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150530537G>A,c.2294G>A,p.R765H |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150530536C>T,c.2293C>T,p.R765C |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150530531C>T,c.2288C>T,p.P763L |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150530531C>G,c.2288C>G,p.P763R |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150530506G>T,c.2263G>T,p.G755W |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150529805G>A,c.2041G>A,p.G681R |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150529656C>T,c.1892C>T,p.P631L |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150528675G>A,c.1409G>A,p.R470H |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150526851C>G,c.1142C>G,p.P381R |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150526393G>A,c.926G>A,p.R309Q |