Mutations identified in index cases.

MAF = minor allele frequency consulted in European American (EA) individuals in exome sequencing project. N/I = variation not previously identified in general population. Genotype: HT = Heterozygous/HM = Homozygous. Predicted protein changed is named following Human genome variation society recommendations. +Not available in public databases but already described as pathogenic mutation.

MAF（minor allele frequency，次要等位基因频率）参考自外显子组测序项目中欧洲裔美国人（EA）个体的统计数据。N/I表示未在普通人群中既往发现的变异。基因型分类规则：HT为杂合子（Heterozygous），HM为纯合子（Homozygous）。预测的蛋白质改变遵循人类基因组变异学会（Human Genome Variation Society）的命名规范。+ 该变异未在公共数据库中收录，但已被报道为致病性突变。