| 基因名 | 突变 |
|---|---|
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:50013402T>C,c.4582T>C,p.S1528P |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49998904C>T,c.4199C>T,p.S1400L |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49998780G>A,c.4075G>A,p.V1359I |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49994700C>T,c.3593C>T,p.A1198V |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49984879C>T,c.2948C>T,p.P983L |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49968432G>A,c.2500G>A,p.V834M |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49951202G>T,c.2068G>T,p.A690S |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49951046C>T,c.1912C>T,p.R638C |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49951023G>A,c.1889G>A,p.R630Q |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49942050A>T,c.1657A>T,p.T553S |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49941987T>C,c.1594T>C,p.S532P |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49939278G>A,c.1253G>A,p.R418Q |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49935560C>T,c.827C>T,p.T276M |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49934020G>A,c.686G>A,p.R229Q |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49933974T>C,c.640T>C,p.S214P |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49933965G>A,c.631G>A,p.G211R |
| WDFY4(NM_020945,WDFY family member 4,3184aa) | g.10:49929392G>A,c.436G>A,p.V146M |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85781681C>T,c.64G>A,p.A22T |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85762338G>A,c.383C>T,p.T128M |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85742393T>C,c.1435A>G,p.S479G |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85724552T>C,c.2498A>G,p.H833R |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85710917C>T,c.3631G>A,p.A1211T |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85678252A>C,c.5251T>G,p.C1751G |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85654590A>G,c.7166T>C,p.M2389T |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85645723C>T,c.7297G>A,p.V2433I |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85617218del,c.8806del,p.2936fs |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85612894T>C,c.9094A>G,p.I3032V |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85600096G>A,c.10123C>T,p.R3375W |