| 基因名 | 突变 |
|---|---|
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113015724C>T,c.5086G>A,p.E1696K |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113015687C>T,c.5123G>A,p.R1708H |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113015660G>A,c.5150C>T,p.T1717M |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113015647A>T,c.5163T>A,p.N1721K |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113010544C>T,c.5425G>A,p.V1809I |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113010490T>C,c.5479A>G,p.I1827V |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113010466T>C,c.5503A>G,p.S1835G |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113010436G>A,c.5533C>T,p.R1845X |
| WDR4(NM_001260477,WD repeat domain 4,266aa) | g.21:44273858G>A,c.358C>T,p.P120S |
| WDR4(NM_001260477,WD repeat domain 4,266aa) | g.21:44270232C>T,c.728G>A,p.R243H |
| WDR4(NM_001260477,WD repeat domain 4,266aa) | g.21:44270229C>T,c.731G>A,p.R244Q |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167322163C>T,c.29G>A,p.R10H |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167322130C>T,c.62G>A,p.G21D |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167320010T>C,c.157A>G,p.K53E |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167293828G>A,c.364C>T,p.R122X |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167293773G>C,c.419C>G,p.A140G |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167278013T>C,c.490A>G,p.I164V |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167277887G>A,c.616C>T,p.R206W |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167272557A>T,c.681T>A,p.H227Q |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167254700T>A,c.856A>T,p.I286F |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167254681A>G,c.875T>C,p.L292S |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167248995G>A,c.1070C>T,p.T357M |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167245767C>A,c.1389G>T,p.K463N |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167245765G>A,c.1391C>T,p.A464V |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167240176T>C,c.1645A>G,p.K549E |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167223119C>T,c.1804G>A,p.G602S |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167218066A>G,c.1850T>C,p.I617T |
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167217964A>G,c.1952T>C,p.L651P |