Table 1.

Overview of the rare FANCA variants observed in Chinese patients with POI

Subject	cDNA changea	Protein change	ACMG category	Minor allele frequencyb			Conservationc		Functional predictiond
				1 KG	ExAC	gnomAD	Phastcons	Phylop	SIFT	PolyPhen-2	MutationTaster	CADD	DANN
F027	c.1772G > A	p.R591Q	LP	0	0.00016	0.00014	0.988	4.419	Damaging	Possibly damaging	Disease causing	5.172	0.999
L010	c.3887A > G	p.E1296G	LP	0	0	0	0.104	2.351	Damaging	Probably damaging	Disease causing	4.157	0.998

^aThe GenBank accession number of FANCA is NM_000135

^bMinor allele frequencies were estimated according to the databases of the 1000 Genomes (1 KG) Project, ExAC and gnomAD

^cThe more conserved the position, the closer is the Phastcons score to 1. Positive score represents predicted conserved site by Phylop, while larger value means higher conservation

^dMutation assessment by the SIFT, PolyPhen-2, MutationTaster, CADD and DANN tools. Higher CADD and DANN scores suggest that variants are more likely to have deleterious effects. CADD cutoff is usually set as 4, while 0.93 is for the DANN cutoff