| 基因名 | 突变 |
|---|---|
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215976352C>T,c.131G>A,p.R44Q |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215928910C>T,c.196G>A,p.G66R |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215919360C>A,c.346G>T,p.D116Y |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215917234C>G,c.484G>C,p.A162P |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215917233G>A,c.485C>T,p.A162V |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215914446C>G,c.597G>C,p.W199C |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215910724T>G,c.709A>C,p.N237H |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215901688G>A,c.974C>T,p.S325F |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215896596A>G,c.1010T>C,p.V337A |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215890462A>G,c.1222T>C,p.S408P |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215884381G>A,c.1427C>T,p.A476V |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215884092A>G,c.1625T>C,p.V542A |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215884068T>C,c.1649A>G,p.E550G |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215882749G>T,c.1765C>A,p.P589T |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215880278C>T,c.1892G>A,p.R631Q |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215876849G>A,c.1967C>T,p.P656L |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215876783T>C,c.2033A>G,p.N678S |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215876166A>T,c.2329T>A,p.S777T |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215865663T>G,c.2945A>C,p.K982T |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215855569T>A,c.3481A>T,p.M1161L |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215852398T>C,c.3949A>G,p.M1317V |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215848528T>C,c.4225A>G,p.I1409V |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215848402T>A,c.4351A>T,p.T1451S |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215843692C>T,c.4813G>A,p.E1605K |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215843598C>T,c.4907G>A,p.R1636Q |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215843556T>C,c.4949A>G,p.Y1650C |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215843134G>C,c.5034C>G,p.H1678Q |
| ABCA12(NM_173076,ATP-binding cassette, sub-family A (ABC1), member 12,2595aa) | g.2:215843070C>G,c.5098G>C,p.V1700L |