Characteristics of the novel mutations identified in TBC1D24 gene.

For each mutation, its position in the cDNA is given, as well as the amino-acid change, its reference number in NCBI database (rs ID), its frequency in NCBI and Exome Variant Server (EVS) database, and the predicted Sift, Polyphen-2 and Mutation Taster scores.Characteristics of the novel mutations identified in TBC1D24 gene.本数据集收录TBC1D24基因中鉴定出的新发突变的相关特征，针对每一处突变，均提供其在互补脱氧核糖核酸（complementary DNA, cDNA）上的位置、氨基酸改变情况、NCBI数据库中的参考编号（rs ID）、在NCBI与外显子组变异服务器（Exome Variant Server, EVS）数据库中的频率，以及Sift、Polyphen-2和Mutation Taster的预测评分。