Journal of Ophthalmology / 2016 / Article / Tab 2

Research Article

A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

Table 2

Number of candidate SNPs/Indels filtered against several public variation databases and the in-house data.

Feature_SNPs and Indels in patient III:5 of family ADCC

Total_SNPs69447
Total Indels6873
Coding_SNP/Indels20726/495
Functional_SNP/Indels6315/231
Filtered_known gene41
Filtered_DBsnp137common/indel
Filtered_DBsnp/indel_1000gene(2011)38
Filtered_DBsnp_1000gene_Hapmap_YH
Filtered in House Data4
heterozygous1

Total_SNPs, Total Indels, Coding_SNP/Indels, and Functional_SNP/Indels: the date was provided by the “human exome capture sequencing date analysis report” and we made a statistical analysis about them.
Filtered_known gene: we filtered known gene mainly based on the related references.
Filtered_DBsnp137common/indel, Filtered_DBsnp/indel_1000gene(2011), and Filtered_DBsnp_1000gene_Hapmap_YH: they are some public databases and all the versions of databases used in our paper were the latest versions. The access date in which we accessed the public databases was about in April 2016.
Filtered in House Data: it is our lab’s database which was generated by our laboratory using 1800 whole exome sequencing data.

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