| 基因名 | 突变 |
|---|---|
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94543287T>C,c.1513A>G,p.I505V |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94543268C>T,c.1532G>A,p.R511H |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94528814G>A,c.1614C>T,p.A538A |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94528774C>T,c.1654G>A,p.V552I |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94528729C>T,c.1699G>A,p.V567M |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94528713C>T,c.1715G>A,p.R572Q |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94528266G>A,c.1804C>T,p.R602W |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94528265C>T,c.1805G>A,p.R602Q |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94520781C>T,c.2473G>A,p.G825R |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94520768G>A,c.2486C>T,p.T829M |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94517254C>G,c.2588G>C,p.G863A |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94514466T>C,c.2701A>G,p.T901A |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94512566G>A,c.2827C>T,p.R943W |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94512565C>T,c.2828G>A,p.R943Q |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94512499T>C,c.2894A>G,p.N965S |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94510248C>G,c.2971G>C,p.G991R |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94508976C>T,c.3106G>A,p.E1036K |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94505659C>A,c.3547G>T,p.G1183C |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94505604A>C,c.3602T>G,p.L1201R |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94502906C>T,c.3608G>A,p.G1203E |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94502888A>G,c.3626T>C,p.M1209T |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94496080A>G,c.4256T>C,p.M1419T |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94496053G>A,c.4283C>T,p.T1428M |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94496039C>T,c.4297G>A,p.V1433I |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94495005G>C,c.4535C>G,p.P1512R |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94490534G>A,c.4610C>T,p.T1537M |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94487460G>A,c.4715C>T,p.T1572M |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94487404C>T,c.4771G>A,p.G1591R |