Table 2.

Variants identified in 10 POI women

Patient ID	Gene	Mutation type*		Gene MIM number [40]	Transcript ID	Nucleotide change	AA change	Reported dbSNP	ACMG evidence	Pathogenicity
FPOI8	NR5A1	Het	Missense	184757	NM_004959	c.1093C>T	p.R365W	Novel	PM2, PP3	VUS
FPOI10	GDF9	Hom	Missense	601918	NM_005260	c.1157G>T	p.C386F	Novel	PM2, PP3	VUS
FPOI11	MARF1	Hom	Missense	614593	NM_001184998	c.1684C>T	p.R562C	Novel	PM2, PP3	VUS
FPOI16	PMM2	Two het	Missense	PMM2-CDG,601785	NM_000303	c.484C>T	p.R162W	rs104894526	PS4, PS3, PM2, PP3	Pathogenic
			Splicing			c.255+1G>A		rs1060499598	PSV1, PS4, PM2, PP5
FPOI22	LMNA	Het	Missense	Malouf syndrome, 150330	NM_170707	c.454C>A	p.L152I	Novel	PM1, PM2, PP2	VUS
FPOI24	MCM9	Hom	Stop-gain	610098	NM_017696	c.1651C>T	p.Q551X	Novel**	PSV1, PM2	Pathogenic
FPOI28	FSHR	Two het	Missense	136435	NM_000145	c.1274C>T	p.T425I	Novel	PM2, PP3	VUS
			Missense			c.1209C>A	p.N403 K	Novel	PM2, PP3
FPOI32	HARS2	Hom	Missense	PRLTS2, 600783	NM_012208	c.1010A>G	p.Y337C	rs537198287	PM2, PP3	VUS
FPOI38	MCM9	Two het	Missense	610098	NM_017696	c.1784C>G	p.T595R	Novel**	PM2, PP3	Pathogenic
			Splicing			c.905-1G>T		rs149099524	PSV1, PM2
FPOI41	PSMC3IP	Two het	Deletion	608665	NM_016556	c.496_497delCT	p.R166Afs	Novel	PSV1, PM2	Likely pathogenic
			Insertion			c.430_431insGA	p.L144*	Novel	PSV1, PM2

*Hom homozygous, Het heterozygous dominant, Two het two heterozygous

**Same participant results have already been published in [25]