Template:JAS/AllMutation

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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