基因名 |
突变 |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1062254G>A,c.5654G>A,p.R1885H |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1059056G>A,c.5435G>A,p.R1812H |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1059029G>A,c.5408G>A,p.R1803H |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1058878G>A,c.5339G>A,p.R1780Q |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1058872G>A,c.5333G>A,p.R1778H |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1058658G>A,c.5191G>A,p.G1731S |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1058644G>A,c.5177G>A,p.R1726H |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1058176A>G,c.5057A>G,p.Q1686R |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1058006T>C,c.4973T>C,p.I1658T |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1057343G>A,c.4795G>A,p.V1599M |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1057060C>T,c.4741C>T,p.L1581F |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1056492G>C,c.4580G>C,p.G1527A |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1056431G>A,c.4519G>A,p.A1507T |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1056426G>A,c.4514G>A,p.R1505H |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1056183C>T,c.4357C>T,p.R1453C |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1055299G>A,c.4154G>A,p.R1385Q |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1055191G>A,c.4046G>A,p.R1349Q |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1054326G>A,c.3712G>A,p.G1238S |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1054324G>A,c.3710G>A,p.R1237H |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1054315G>A,c.3701G>A,p.R1234H |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1054281G>A,c.3667G>A,p.A1223T |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1054255G>A,c.3641G>A,p.W1214X |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1054061C>T,c.3529C>T,p.R1177W |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1051549C>T,c.2926C>T,p.R976C |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1051523C>T,c.2900C>T,p.T967M |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1051515C>G,c.2892C>G,p.D964E |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1051471G>A,c.2848G>A,p.V950M |
ABCA7(NM_019112,ATP-binding cassette, sub-family A (ABC1), member 7,2146aa) |
g.19:1051284C>T,c.2815C>T,p.H939Y |