| 基因名 | 突变 |
|---|---|
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41966704G>A,c.2123G>A,p.R708Q |
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41966673G>A,c.2092G>A,p.D698N |
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41966269G>A,c.1688G>A,p.R563Q |
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41961613G>A,c.1496G>A,p.R499K |
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41946539G>A,c.1285G>A,p.G429S |
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41900480G>A,c.1066G>A,p.V356M |
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41900463G>A,c.1049G>A,p.R350H |
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41900262A>G,c.848A>G,p.N283S |
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41587983T>A,c.836T>A,p.I279N |
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41585332G>A,c.721G>A,p.G241S |
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41582619G>A,c.362G>A,p.G121E |
| PDZRN4(NM_001164595,PDZ domain containing ring finger 4,1036aa) | g.12:41582603G>C,c.346G>C,p.G116R |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73673912T>A,c.65A>T,p.H22L |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73673523G>A,c.454C>T,p.H152Y |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73673262C>G,c.715G>C,p.G239R |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73657798C>T,c.761G>A,p.R254Q |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73657790C>T,c.769G>A,p.G257S |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73453528A>C,c.937T>G,p.S313A |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73453398G>A,c.1067C>T,p.T356M |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73453327C>T,c.1138G>A,p.V380M |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73437221_73437222insT,c.1417-1insA,p.473Acceptorins |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73433871C>T,c.1846G>A,p.G616S |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73433839A>C,c.1878T>G,p.I626M |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73433730C>T,c.1987G>A,p.G663S |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73433697C>T,c.2020G>A,p.G674S |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73433369G>A,c.2348C>T,p.A783V |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73433306G>A,c.2411C>T,p.A804V |
| PDZRN3(NM_015009,PDZ domain containing ring finger 3,1066aa) | g.3:73432967G>A,c.2750C>T,p.P917L |