| 基因名 | 突变 |
|---|---|
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94485137C>T,c.5196+1G>A,p.1732Donor |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94476889_94476890insG,c.5512_5513insC,p.1838fs |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94476875G>A,c.5527C>T,p.R1843W |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94476467T>A,c.5603A>T,p.N1868I |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94476388C>G,c.5682G>C,p.L1894L |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94476377C>T,c.5693G>A,p.R1898H |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94473846G>A,c.5843C>T,p.P1948L |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94473845T>C,c.5844A>G,p.P1948P |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94473808C>T,c.5881G>A,p.G1961R |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94473807C>T,c.5882G>A,p.G1961E |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94473287G>A,c.5908C>T,p.L1970F |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94471055C>T,c.6089G>A,p.R2030Q |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94471026G>A,c.6118C>T,p.R2040X |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94471025C>T,c.6119G>A,p.R2040Q |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94467548C>G,c.6148G>C,p.V2050L |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94466624C>T,c.6320G>A,p.R2107H |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94463648G>C,c.6498C>G,p.I2166M |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94463617C>T,c.6529G>A,p.D2177N |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94463583A>G,c.6563T>C,p.F2188S |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94461717C>A,c.6764G>T,p.S2255I |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2376215G>C,c.115C>G,p.L39V |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2376053C>T,c.277G>A,p.V93I |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2369797G>A,c.658C>T,p.R220W |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2369767C>T,c.688G>A,p.A230T |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2369761G>A,c.694C>T,p.R232C |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2369739G>A,c.716C>T,p.T239M |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2369592C>T,c.863G>A,p.R288K |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2367657A>G,c.982T>C,p.C328R |