BIG-Annotator：基因组测序数据高效功能注释及其在遗传诊断中的应用

黄莹,刘琪,池连江,石承民,吴祯,胡敏,石宏,陈华

Application of BIG-Annotator in the genome sequencing data functional annotation and genetic diagnosis

Huang Ying,Liu Qi,Chi Lianjiang,Shi Chengmin,Wu Zhen,Hu Min,Shi Hong,Chen Hua

表4 COL1A2基因外显子片段上发现的变异列表

Table 4 List of mutations occurring in the exon region of COL1A2

ID SNP编号及其最小等位基因频率 rs1801182 (C/0.3398) rs1800222 (C/0.3835) rs66612022 (A/na) rs42524 (G/0.0680) rs1800238 (T/0.3738) rs1800248 (T/0.1165) Ind19 CT - - GG GT - Ind20 CC - GA GG TT - Ind21 CC CC GA GG TT - Ind22 - - - CG GT - Ind23 - CT GA GG GT - Ind24 CT CT GA GG GT CT Ind25 CT CT GA CG GT -