| 基因名 | 突变 |
|---|---|
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18905843C>T,c.4915C>T,p.R1639W |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18905795A>G,c.4867A>G,p.I1623V |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18892520G>A,c.4777G>A,p.A1593T |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18889583G>A,c.4480G>A,p.D1494N |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18887960G>A,c.4381G>A,p.G1461S |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18829952A>G,c.4226A>G,p.D1409G |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18826311A>G,c.3964A>G,p.R1322G |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18817125C>T,c.3824C>T,p.T1275M |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18795510G>A,c.3793G>A,p.V1265I |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18777601G>A,c.3374G>A,p.R1125H |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18777304C>T,c.3077C>T,p.S1026F |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18777268C>T,c.3041C>T,p.A1014V |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18777196A>C,c.2969A>C,p.E990A |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18776971G>A,c.2744G>A,p.G915D |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18776926C>T,c.2699C>T,p.P900L |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18776784G>A,c.2557G>A,p.G853R |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18775810C>A,c.2467C>A,p.L823I |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18770618G>A,c.2236G>A,p.G746R |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18753505C>T,c.2216C>T,p.P739L |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18721642A>G,c.1985A>G,p.N662S |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18721615G>A,c.1958G>A,p.R653Q |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18706986G>A,c.1816G>A,p.D606N |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18706759C>A,c.1589C>A,p.A530D |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18681880C>A,c.1412C>A,p.T471K |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18639300G>A,c.725G>A,p.S242N |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18622358G>A,c.592G>A,p.A198T |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18622274G>A,c.508G>A,p.V170I |
| ADAMTSL1(NM_001040272,ADAMTS-like 1,1762aa) | g.9:18574095A>G,c.305A>G,p.H102R |