| 基因名 | 突变 |
|---|---|
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67273927C>A,c.2449G>T,p.D817Y |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67273882C>A,c.2494G>T,p.A832S |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67273783C>T,c.2593G>A,p.V865M |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67270252A>G,c.2612T>C,p.I871T |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67267376G>A,c.2819C>T,p.T940M |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67267355T>A,c.2840A>T,p.Y947F |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67267317T>C,c.2878A>G,p.M960V |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67257355C>T,c.3475G>A,p.G1159R |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67252413G>A,c.3743C>T,p.T1248M |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67250466C>T,c.4234G>A,p.V1412I |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67249939C>T,c.4316G>A,p.R1439Q |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67247973G>A,c.4450C>T,p.R1484W |
| ABCA5(NM_018672,ATP-binding cassette, sub-family A (ABC1), member 5,1642aa) | g.17:67247904C>T,c.4519G>A,p.V1507M |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94578618C>T,c.71G>A,p.R24H |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94578601C>T,c.88G>A,p.V30M |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94577093G>A,c.203C>T,p.P68L |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94574258T>A,c.317A>T,p.Y106F |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94568686C>T,c.455G>A,p.R152Q |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94564543G>A,c.575C>T,p.A192V |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94564483C>T,c.635G>A,p.R212H |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94564367A>G,c.751T>C,p.F251L |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94564355G>A,c.763C>T,p.R255C |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94548919T>C,c.847A>G,p.R283G |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94546261G>A,c.872C>T,p.P291L |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94546150T>A,c.983A>T,p.E328V |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94546135C>T,c.998G>A,p.R333Q |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94544234T>C,c.1268A>G,p.H423R |
| ABCA4(NM_000350,ATP-binding cassette, sub-family A (ABC1), member 4,2273aa) | g.1:94544208C>T,c.1294G>A,p.E432K |