Template:JAS/AllMutation
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 |