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
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org