| 基因名 | 突变 |
|---|---|
| RSG1(NM_030907,REM2 and RAB-like small GTPase 1,258aa) | g.1:16560258del,c.114del,p.38fs |
| RSG1(NM_030907,REM2 and RAB-like small GTPase 1,258aa) | g.1:16560227C>T,c.145G>A,p.V49M |
| RSG1(NM_030907,REM2 and RAB-like small GTPase 1,258aa) | g.1:16559461C>T,c.317G>A,p.R106H |
| RSG1(NM_030907,REM2 and RAB-like small GTPase 1,258aa) | g.1:16559044C>A,c.488G>T,p.G163V |
| RSG1(NM_030907,REM2 and RAB-like small GTPase 1,258aa) | g.1:16558562G>C,c.758C>G,p.P253R |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77413481G>A,c.793C>T,p.R265C |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77413429T>C,c.845A>G,p.D282G |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77412851A>G,c.1423T>C,p.S475P |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77412851A>C,c.1423T>G,p.S475A |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77412755C>T,c.1519G>A,p.A507T |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77412646G>A,c.1628C>T,p.S543F |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77412548C>T,c.1726G>A,p.D576N |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77412456T>C,c.1818A>G,p.I606M |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77412344C>T,c.1930G>A,p.E644K |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77412179C>G,c.2095G>C,p.G699R |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77411956C>T,c.2318G>A,p.R773H |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77386177T>C,c.3466A>G,p.M1156V |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77383146C>T,c.3692G>A,p.R1231Q |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77378483G>A,c.3805C>T,p.R1269W |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77378399G>A,c.3889C>T,p.R1297C |
| RSF1(NM_016578,remodeling and spacing factor 1,1441aa) | g.11:77378374G>A,c.3914C>T,p.T1305M |
| RSC1A1(NM_006511,regulatory solute carrier protein, family 1, member 1,617aa) | g.1:15988041C>T,c.1678C>T,p.P560S |
| RSC1A1(NM_006511,regulatory solute carrier protein, family 1, member 1,617aa) | g.1:15987963G>C,c.1600G>C,p.D534H |
| RSC1A1(NM_006511,regulatory solute carrier protein, family 1, member 1,617aa) | g.1:15987775G>A,c.1412G>A,p.R471H |
| RSC1A1(NM_006511,regulatory solute carrier protein, family 1, member 1,617aa) | g.1:15987724C>T,c.1361C>T,p.S454L |
| RSC1A1(NM_006511,regulatory solute carrier protein, family 1, member 1,617aa) | g.1:15987234A>G,c.871A>G,p.T291A |
| RSC1A1(NM_006511,regulatory solute carrier protein, family 1, member 1,617aa) | g.1:15987175A>G,c.812A>G,p.N271S |
| RSC1A1(NM_006511,regulatory solute carrier protein, family 1, member 1,617aa) | g.1:15987069T>C,c.706T>C,p.S236P |