List of candidate mutations for embryonic lethal defects.

*: mutations with damaging predicted effect on the structure and function of the protein. In bold are shown the strongest candidate mutations for each haplotype. Mutation g.49942403T>C, predicted to affect BCAR3 splicing, was not retained as a plausible causative mutation since deficiency in BCAR3 is not lethal in mouse [17]. MIS18A p.C13Y substitution was also not retained as a plausible causative mutation as described in the manuscript.

*：指对蛋白质结构与功能具有预测性损伤效应的突变。各单倍型的最强候选突变以粗体标注。突变g.49942403T>C虽被预测会影响BCAR3的剪接过程，但由于BCAR3缺陷在小鼠中并非致死性的[17]，因此未被认定为合理的致病突变。如本文所述，MIS18A p.C13Y替换突变同样未被认定为合理的致病突变。