| 基因名 | 突变 |
|---|---|
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150526387G>A,c.920G>A,p.R307Q |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150526270C>T,c.803C>T,p.S268F |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150526221C>A,c.754C>A,p.H252N |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150526044G>C,c.577G>C,p.A193P |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150525976G>A,c.509G>A,p.R170Q |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150525720C>T,c.425C>T,p.A142V |
| ADAMTSL4(NM_019032,ADAMTS-like 4,1074aa) | g.1:150525425G>A,c.130G>A,p.E44K |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84706461C>T,c.4979C>T,p.T1660I |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84705581G>C,c.4811G>C,p.G1604A |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84700167C>G,c.4737C>G,p.N1579K |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84700108C>T,c.4678C>T,p.R1560C |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84694096G>C,c.4564G>C,p.V1522L |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84694093G>T,c.4561G>T,p.V1521L |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84694079A>T,c.4547A>T,p.N1516I |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84694067G>A,c.4535G>A,p.R1512Q |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84685231C>T,c.4253C>T,p.T1418I |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84685168T>C,c.4190T>C,p.L1397P |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84683428A>G,c.4108A>G,p.T1370A |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84683420G>A,c.4100G>A,p.C1367Y |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84659942G>A,c.3949G>A,p.V1317M |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84651865C>G,c.3485C>G,p.S1162W |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84651796G>A,c.3416G>A,p.R1139Q |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84651795C>T,c.3415C>T,p.R1139W |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84651759G>A,c.3379G>A,p.E1127K |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84651441_84651452del,c.3061_3072del,p.1021_1024del |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84651393C>T,c.3013C>T,p.R1005C |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84651381C>T,c.3001C>T,p.R1001W |
| ADAMTSL3(NM_207517,ADAMTS-like 3,1691aa) | g.15:84651321C>T,c.2941C>T,p.R981W |