| 基因名 | 突变 |
|---|---|
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2358562C>T,c.1174G>A,p.V392M |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2354116C>T,c.1321G>A,p.V441I |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2350115G>T,c.1502C>A,p.A501E |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2349473C>T,c.1672G>A,p.E558K |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2347906C>T,c.1913G>A,p.R638H |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2347859G>C,c.1960C>G,p.L654V |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2347515G>A,c.2078C>T,p.S693L |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2345709G>A,c.2296C>T,p.P766S |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2345696G>A,c.2309C>T,p.P770L |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2345672T>C,c.2333A>G,p.H778R |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2335553C>T,c.3373G>A,p.V1125M |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2334981C>T,c.3502G>A,p.D1168N |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2334881A>T,c.3602T>A,p.F1201Y |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2333210C>T,c.4012G>A,p.A1338T |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2331216C>T,c.4171G>A,p.E1391K |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2329121C>T,c.4370G>A,p.R1457Q |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2329098C>T,c.4393G>A,p.D1465N |
| ABCA3(NM_001089,ATP-binding cassette, sub-family A (ABC1), member 3,1704aa) | g.16:2326770C>T,c.5020G>A,p.G1674S |
| ABCA2(NM_001606,ATP-binding cassette, sub-family A (ABC1), member 2,2436aa) | g.9:139916900C>G,c.470G>C,p.R157T |
| ABCA2(NM_001606,ATP-binding cassette, sub-family A (ABC1), member 2,2436aa) | g.9:139916879C>T,c.491G>A,p.R164H |
| ABCA2(NM_001606,ATP-binding cassette, sub-family A (ABC1), member 2,2436aa) | g.9:139916374C>T,c.647G>A,p.R216H |
| ABCA2(NM_001606,ATP-binding cassette, sub-family A (ABC1), member 2,2436aa) | g.9:139916016G>A,c.725C>T,p.P242L |
| ABCA2(NM_001606,ATP-binding cassette, sub-family A (ABC1), member 2,2436aa) | g.9:139915879G>A,c.862C>T,p.R288W |
| ABCA2(NM_001606,ATP-binding cassette, sub-family A (ABC1), member 2,2436aa) | g.9:139915218G>T,c.1193C>A,p.T398K |
| ABCA2(NM_001606,ATP-binding cassette, sub-family A (ABC1), member 2,2436aa) | g.9:139914819G>A,c.1394C>T,p.A465V |
| ABCA2(NM_001606,ATP-binding cassette, sub-family A (ABC1), member 2,2436aa) | g.9:139914801C>T,c.1412G>A,p.R471H |
| ABCA2(NM_001606,ATP-binding cassette, sub-family A (ABC1), member 2,2436aa) | g.9:139913239T>G,c.1751A>C,p.H584P |
| ABCA2(NM_001606,ATP-binding cassette, sub-family A (ABC1), member 2,2436aa) | g.9:139912504C>T,c.2017G>A,p.D673N |