Table 4.

Predicted pathogenicity of the two genetic variants of POR

Gene	cDNA, Protein	SIFT	Polyphen‐2	Mutation Taster	Mutation Assessor	CADD
POR	c.667C>T, p.R223*	‐	‐	Disease‐causing	‐	‐
POR	c.1370G>A, p.R457H	Damaging	Probably damaging	Disease‐causing	High impact	32