| 基因名 | 突变 |
|---|---|
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1050996G>A,c.2629G>A,p.A877T |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1049357C>T,c.2473C>T,p.R825W |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1049269G>A,c.2385G>A,p.L795L |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1048898G>C,c.2274G>C,p.Q758H |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1047537A>C,c.2153A>C,p.N718T |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1047169T>C,c.1859T>C,p.L620P |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1046400C>G,c.1617C>G,p.D539E |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1046353C>T,c.1570C>T,p.R524W |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1046317C>G,c.1534C>G,p.R512G |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1045173G>A,c.1388G>A,p.R463H |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1044712A>G,c.1184A>G,p.H395R |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1044619C>G,c.1091C>G,p.P364R |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1044589T>C,c.1061T>C,p.M354T |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1043794G>A,c.1001G>A,p.R334Q |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1043748A>G,c.955A>G,p.T319A |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1043739G>A,c.946G>A,p.E316K |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1043399G>A,c.857G>A,p.R286H |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1043103G>A,c.643G>A,p.G215S |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1042809A>G,c.563A>G,p.E188G |
| ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) | g.19:1041967T>C,c.298T>C,p.S100P |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67129981C>G,c.592G>C,p.E198Q |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67129926T>G,c.647A>C,p.N216T |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67125840C>T,c.844G>A,p.V282I |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67125820G>C,c.864C>G,p.F288L |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67121109A>G,c.1187T>C,p.M396T |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67119548T>A,c.1268A>T,p.Y423F |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67109833T>A,c.1828A>T,p.N610Y |
| ABCA6(NM_080284,ATP-binding cassette, sub-family A (ABC1), member 6,1617aa) | g.17:67108362C>G,c.2094G>C,p.M698I |