| 基因名 | 突变 |
|---|---|
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18808579G>T,c.1104G>T,p.Q368H |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18808526A>C,c.1051A>C,p.T351P |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18808292C>A,c.817C>A,p.H273N |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18808229C>T,c.754C>T,p.Q252X |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18808193G>C,c.718G>C,p.E240Q |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18808056G>C,c.581G>C,p.R194P |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18807953C>A,c.478C>A,p.R160S |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18807938C>A,c.463C>A,p.P155T |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18807897C>G,c.422C>G,p.P141R |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18807755G>A,c.280G>A,p.G94S |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18807620G>C,c.145G>C,p.G49R |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18807551G>A,c.76G>A,p.A26T |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18807536G>T,c.61G>T,p.V21L |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18807521C>A,c.46C>A,p.Q16K |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87799412A>G,c.85T>C,p.S29P |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87795592G>A,c.154C>T,p.Q52X |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87795580G>C,c.166C>G,p.L56V |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87795564G>C,c.182C>G,p.P61R |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87790070G>C,c.205C>G,p.L69V |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87790013C>T,c.262G>A,p.G88S |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87788864G>A,c.305C>T,p.T102I |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87788814G>A,c.355C>T,p.R119C |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87782396C>A,c.389G>T,p.G130V |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87782322G>C,c.463C>G,p.L155V |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87764170T>C,c.587A>G,p.H196R |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87760445T>C,c.685A>G,p.T229A |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87744972G>A,c.913C>T,p.P305S |
| KLHDC4(NM_017566,kelch domain containing 4,520aa) | g.16:87743222C>T,c.1096G>A,p.E366K |