Additional file 3 of Lethal variants in humans: lessons learned from a large molecular autopsy cohort

Additional file 3: Supplementary Tables S2-S5. Table S2: Level of very long chain fatty acids in patient 18DG0989. Values with asterisk are elevated. Table S3: Breakdown of genes with no OMIM phenotype. No OMIM phenotype*: Case phenotype is not listed in OMIM. Table S4: Breakdown of the diagnostic yield by phenotypic outcome and consanguinity status. Genes in bold are mutated in more than one family. Table S5: Founder variants in this study and their frequency in Saudi and other populations. CGM: local ES database.

附加文件3：补充表S2~S5。表S2：患者18DG0989体内超长链脂肪酸水平，带星号的数值为异常升高值。表S3：无在线人类孟德尔遗传数据库（OMIM）表型的基因分项统计。*无OMIM表型：该病例的表型未收录于OMIM数据库。表S4：按表型结局与近亲婚配状态划分的诊断检出率分项统计。加粗标注的基因在多个家系中存在突变。表S5：本研究中的奠基者变异及其在沙特人群与其他人群中的分布频率。CGM：本地外显子组测序（ES）数据库。