| 基因名 | 突变 |
|---|---|
| OSBPL3(NM_015550,oxysterol binding protein-like 3,887aa) | g.7:24874319C>T,c.1532G>A,p.R511Q |
| OSBPL3(NM_015550,oxysterol binding protein-like 3,887aa) | g.7:24870395del,c.1876del,p.626fs |
| OSBPL3(NM_015550,oxysterol binding protein-like 3,887aa) | g.7:24849459C>T,c.2284G>A,p.G762S |
| OSBPL3(NM_015550,oxysterol binding protein-like 3,887aa) | g.7:24849456C>T,c.2287G>A,p.G763S |
| OSBPL3(NM_015550,oxysterol binding protein-like 3,887aa) | g.7:24839891C>T,c.2575G>A,p.D859N |
| OSBPL2(NM_144498,oxysterol binding protein-like 2,480aa) | g.20:60835075G>A,c.76G>A,p.A26T |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21914213G>A,c.476C>T,p.A159V |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21913036A>T,c.495T>A,p.N165K |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21897114G>A,c.869C>T,p.T290M |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21891965G>C,c.1075C>G,p.L359V |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21819192G>A,c.1436C>T,p.A479V |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21805053T>A,c.1554A>T,p.K518N |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21805040C>T,c.1567G>A,p.G523R |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21758157T>C,c.1913A>G,p.D638G |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21752415G>A,c.2126C>T,p.T709I |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21750298C>T,c.2411G>A,p.S804N |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21747400A>G,c.2428T>C,p.S810P |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21747391A>T,c.2437T>A,p.L813M |
| OSBPL1A(NM_080597,oxysterol binding protein-like 1A,950aa) | g.18:21743216T>C,c.2780A>G,p.N927S |
| OSBPL11(NM_022776,oxysterol binding protein-like 11,747aa) | g.3:125313635C>A,c.10G>T,p.G4C |
| OSBPL11(NM_022776,oxysterol binding protein-like 11,747aa) | g.3:125282610T>G,c.946A>C,p.T316P |
| OSBPL11(NM_022776,oxysterol binding protein-like 11,747aa) | g.3:125271349T>C,c.1330A>G,p.I444V |
| OSBPL11(NM_022776,oxysterol binding protein-like 11,747aa) | g.3:125250775C>T,c.2108G>A,p.R703H |
| OSBPL10(NM_017784,oxysterol binding protein-like 10,764aa) | g.3:31921194_31921195insG,c.409_410insC,p.137fs |
| OSBPL10(NM_017784,oxysterol binding protein-like 10,764aa) | g.3:31917989T>C,c.473A>G,p.E158G |
| OSBPL10(NM_017784,oxysterol binding protein-like 10,764aa) | g.3:31871593G>A,c.668C>T,p.S223L |
| OSBPL10(NM_017784,oxysterol binding protein-like 10,764aa) | g.3:31871578C>T,c.683G>A,p.R228Q |
| OSBPL10(NM_017784,oxysterol binding protein-like 10,764aa) | g.3:31789582T>C,c.760A>G,p.N254D |