Summary of the rare variants found in the extreme values of CSF biomarker levels.

Gene: official Symbol provide by HGNC; dbSNP: variants with or without rs numbers. AA Substitution: amino acid change resulting from the observed variant; dbSNP ID: rs# for variants present in dbSNP 135, Novel for variants not present in dbsnp, 1000 genome or Exome Variant Server; GERP score: Genomic Evolutionary Rate Profiling score; Protein prediction: based on SIFT/Polyphen2 analysis of the predicted effect of the substitution on protein function; MAF in ESV: Minor allele frequency in Exome Variant Server; Total # Hets: Number of carriers of the variant in the total sample; Total MAF: Minor allele frequency in all sample genotyped. Clinical Interpretation: Clinical interpretation is based on AD&FTD mutation database and published papers.§dbSNP 135 appears as validation pendingGene: 由人类基因命名委员会（HGNC, HUGO Gene Nomenclature Committee）提供的官方基因符号；dbSNP：携带或不携带rs编号的遗传变异；氨基酸替换（AA Substitution）：观测到的变异所引发的氨基酸改变；dbSNP ID：dbSNP 135数据库收录变异的rs编号，未在dbSNP、1000 Genomes或外显子组变异服务器（Exome Variant Server）中收录的变异则标注为Novel（新变异）；GERP得分（Genomic Evolutionary Rate Profiling, GERP）：基因组进化速率谱分析得分；蛋白质功能预测（Protein prediction）：基于SIFT/Polyphen2工具对该氨基酸替换对蛋白质功能的预测影响开展的分析；MAF in ESV：外显子组变异服务器（Exome Variant Server, ESV）中的次要等位基因频率；Total # Hets：总样本中携带该变异的杂合子携带者数量；Total MAF：全部完成基因分型样本中的次要等位基因频率；Clinical Interpretation：临床解读基于阿尔茨海默病与额颞叶痴呆（AD&FTD, Alzheimer's Disease & Frontotemporal Dementia）突变数据库及已发表文献。§dbSNP 135验证状态待定