| 基因名 | 突变 |
|---|---|
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107591399C>T,c.1913G>A,p.R638Q |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107591315C>T,c.1997G>A,p.R666Q |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107591292T>G,c.2020A>C,p.M674L |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107589255C>T,c.2311G>A,p.V771M |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107589238C>G,c.2328G>C,p.K776N |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107588033C>T,c.2473G>A,p.V825I |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107586800C>T,c.2602G>A,p.E868K |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107586753T>C,c.2649A>G,p.I883M |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107584945C>A,c.2660G>T,p.C887F |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107582275C>T,c.3036G>A,p.M1012I |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107581987G>C,c.3121C>G,p.L1041V |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107581120C>T,c.3286G>A,p.V1096I |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107579678C>T,c.3470G>A,p.S1157N |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107579633T>C,c.3515A>G,p.E1172G |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107579632C>G,c.3516G>C,p.E1172D |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107579624G>A,c.3524C>T,p.T1175M |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107578618C>T,c.3544G>A,p.A1182T |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107578608T>C,c.3554A>G,p.N1185S |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107578578C>T,c.3584G>A,p.R1195Q |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107576746T>C,c.3749A>G,p.K1250R |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107576738C>T,c.3757G>A,p.E1253K |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107571819G>A,c.4202C>T,p.T1401I |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107562804T>C,c.4760A>G,p.K1587R |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107560803C>T,c.5020G>A,p.V1674I |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107558340G>A,c.5376C>T,p.T1792T |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107556793_107556794insA,c.5383-2insT,p.1795Acceptorins |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107556793_107556794insAA,c.5383-2insTT,p.1795Acceptorins |
| ABCA1(NM_005502,ATP-binding cassette, sub-family A (ABC1), member 1,2261aa) | g.9:107556793_107556794insAAA,c.5383-2insTTT,p.1795Acceptorins |