| Mutation |
Effect |
Position |
Reference
|
| ABCA1/Mut/2803/A-C
|
N935H
|
exon19
|
Guo (2002) J_Hum_Genet
|
| ABCA1/Mut/2804/A-G
|
N935S
|
exon19
|
Guo (2002) J_Hum_Genet
|
| ABCA1/Del/In12-In14/1221bp
|
-
|
exon13-14
|
Guo (2002) J_Hum_Genet
|
| ABCA1/Del/In16-In31/19.9kb
|
-
|
exon17-31
|
Guo (2002) J_Hum_Genet
|
| ABCA1/Del/3672/CGCC
|
R1224fsX15
|
exon27
|
Huang (2001) Biochim_Biophys_Acta
|
| ABCA1/Mut/3685/G-A
|
D1229N
|
exon27
|
Huang (2001) Biochim_Biophys_Acta
|
| ABCA1/Mut/6061/C-T
|
R2021W
|
exon47
|
Huang (2001) Biochim_Biophys_Acta
|
| ABCA1/Mut/5038/C-T
|
R1680W
|
exon37
|
Ishii (2002) J_Hum_Genet
|
| ABCA1/Mut/4978/T-C
|
C1660R
|
exon37
|
Maekawa (2009) Atherosclerosis
|
| ABCA1/Mut/763/G-A
|
A255T
|
exon8
|
Nishida (2002) Biochem_Biophys_Res_Commun
|
| ABCA1/Mut/4831/A-G
|
N1611D
|
exon36
|
Nishida (2002) Biochem_Biophys_Res_Commun
|
| ABCA1/Mut/5551/C-T
|
R1851X
|
exon39
|
Nishida (2002) Biochem_Biophys_Res_Commun
|
