| 基因名 | 突变 |
|---|---|
| KLHL10(NM_152467,kelch-like family member 10,608aa) | g.17:40001630G>A,c.937G>A,p.A313T |
| KLHL10(NM_152467,kelch-like family member 10,608aa) | g.17:40001580T>C,c.887T>C,p.I296T |
| KLHL10(NM_152467,kelch-like family member 10,608aa) | g.17:40001573T>C,c.880T>C,p.F294L |
| KLHL10(NM_152467,kelch-like family member 10,608aa) | g.17:39998487G>A,c.607G>A,p.V203I |
| KLHDC9(NM_001007255,kelch domain containing 9,288aa) | g.1:161069544G>A,c.863G>A,p.S288N |
| KLHDC9(NM_001007255,kelch domain containing 9,288aa) | g.1:161068836A>C,c.511A>C,p.S171R |
| KLHDC9(NM_001007255,kelch domain containing 9,288aa) | g.1:161068575G>A,c.250G>A,p.A84T |
| KLHDC9(NM_001007255,kelch domain containing 9,288aa) | g.1:161068441G>A,c.116G>A,p.R39Q |
| KLHDC9(NM_001007255,kelch domain containing 9,288aa) | g.1:161068428G>A,c.103G>A,p.E35K |
| KLHDC8A(NM_001271863,kelch domain containing 8A,350aa) | g.1:205312566G>A,c.167C>T,p.A56V |
| KLHDC8A(NM_001271863,kelch domain containing 8A,350aa) | g.1:205308822G>A,c.491C>T,p.P164L |
| KLHDC8A(NM_001271863,kelch domain containing 8A,350aa) | g.1:205308785C>A,c.528G>T,p.K176N |
| KLHDC8A(NM_001271863,kelch domain containing 8A,350aa) | g.1:205308370G>A,c.709C>T,p.R237W |
| KLHDC8A(NM_001271863,kelch domain containing 8A,350aa) | g.1:205306592C>T,c.988G>A,p.A330T |
| KLHDC7B(NM_138433,kelch domain containing 7B,594aa) | g.22:50988193A>G,c.1598A>G,p.H533R |
| KLHDC7B(NM_138433,kelch domain containing 7B,594aa) | g.22:50988183G>A,c.1588G>A,p.A530T |
| KLHDC7B(NM_138433,kelch domain containing 7B,594aa) | g.22:50988105G>A,c.1510G>A,p.V504M |
| KLHDC7B(NM_138433,kelch domain containing 7B,594aa) | g.22:50988042C>T,c.1447C>T,p.R483W |
| KLHDC7B(NM_138433,kelch domain containing 7B,594aa) | g.22:50987747C>G,c.1152C>G,p.I384M |
| KLHDC7B(NM_138433,kelch domain containing 7B,594aa) | g.22:50987601A>T,c.1006A>T,p.T336S |
| KLHDC7B(NM_138433,kelch domain containing 7B,594aa) | g.22:50987592C>T,c.997C>T,p.R333W |
| KLHDC7B(NM_138433,kelch domain containing 7B,594aa) | g.22:50987403C>T,c.808C>T,p.R270C |
| KLHDC7B(NM_138433,kelch domain containing 7B,594aa) | g.22:50987287A>G,c.692A>G,p.Q231R |
| KLHDC7B(NM_138433,kelch domain containing 7B,594aa) | g.22:50987175G>T,c.580G>T,p.V194L |
| KLHDC7B(NM_138433,kelch domain containing 7B,594aa) | g.22:50986647G>A,c.52G>A,p.V18I |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18809549G>A,c.2074G>A,p.V692M |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18809351G>C,c.1876G>C,p.A626P |
| KLHDC7A(NM_152375,kelch domain containing 7A,777aa) | g.1:18809310G>A,c.1835G>A,p.W612X |