Family verification by sanger sequencing
Genetic modification of the mutations was performed on the fetus, pregnant women and their husbands. According to the exome of the mutation site, the primers needed for sequencing the synthetic DNA fragments were designed, and the DNA of the fetus, pregnant women and their husbands were PCR‐amplified. Method of sequencing was performed by Sanger sequencing and the sequencing results were compared with the results of whole exome sequencing.