CFTR and congenital bilateral aplasia of vas deferens from CFTR mutation: Additionally, in the intron 8 and exon 9 junction region of CFTR, they both had two G insertions, which were confirmed by subsequent direct sequencing to be the c.1210‐33_1210‐6GT[13]T[5] variant (also known as IVS8‐T5‐TG13), a known pathogenic variant of CBAVD.