TGFBI

TGFBI containing all pathogenic and likely pathogenic variants reported so far. Non-disease-associated variants are described in specific databases, like gnomAD and ExAC but are not listed here.

本数据集收录了截至目前已报道的所有致病性及可能致病性TGFBI变异。非疾病相关变异已在gnomAD（Genome Aggregation Database，基因组聚合数据库）、ExAC（Exome Aggregation Consortium，外显子组聚合数据库）等专用数据库中进行描述，并未纳入本数据集。