Fig. 2

The sequencing results and bioinformatics analysis of mutation site. A CNV-seq analysis results showed the identification of 46,XY with no chromosome aneuploidy and genome copy number variation > 100 kb. B Sanger sequencing results for the NR5A1 mutation site in the patient and parents. The red arrow shows the mutation site. C Schematic representation of the c.64 G > T variant located in exon 2 of NR5A1. D Schematic representation of the G22C substitution in the NR5A1 DBD. E Conservation of Gly22 across species