Clinical Characteristics and Spermatogenesis in Patients with Congenital Hypogonadotropic Hypogonadism Caused by FGFR1 Mutations

Table 1

FGFR1 mutation type, specific site information, and pathogenicity.

Mutation types	Mutation site	Inherited	Pathogenicity
Missense mutation	p.V184M (c.550G > A)	Unknown	Likely pathogenic
	p.R477T (c.1430G > C)	Unknown	Uncertain
	p.A342V (c.1025C > T)	Unknown	Uncertain
	p.F186I (c.556T > A)	Unknown	Uncertain
	p.H452P (c.1355A > C)	Unknown	Uncertain
	p.V184M (c.550G > A)	Unknown	Likely pathogenic
	p.T340M (c.1019C > T)	Unknown	Likely pathogenic
	p.G260R (c.778G > C)	De novo	Likely pathogenic
	p.R254W (c.760C > T)	De novo	Likely pathogenic
	p.R424H (c.1271G > A)	Unknown	Uncertain
	p.R165Q (c.494G > A)	Unknown	Uncertain
Frame shift mutation	p.L188Hfs5 (c.562_563insAC)	De novo	Pathogenic
	p.Y280Lfs2 (c.838dupT)	De novo	Pathogenic
Deletion mutation	p.733_733del (c.2197_2199delATG)	Unknown	Uncertain