Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency

Table 1 In silico analysis of the FIGLA mutation

Gene	Mutation	Amino acid change	Consanguinity	Zygosity	Mutation Taster^a	SNPs&GO^b	FATHMM-MKL^c	ExAC (total)^d	ExAC (East Asian)^e	gnomAD (total)^f
FIGLA	c.2 T > C	Start ATG shift	Yes	Homozygous	Disease causing (1)	Neutral (0.157)	Damaging (0.8119)	0	0	0

^aMutation Taster (http://www.mutationtaster.org/). The probability value is the probability of the prediction, i.e., a value close to 1 indicates a high ‘security’ of the prediction
^bSNPs&GO (http://snps.biofold.org/snps-and-go/). Disease probability (if > 0.5 mutation is predicted Disease)
^cFATHMM-MKL (http://fathmm.biocompute.org.uk/fathmmMKL.htm). Values above 0.5 are predicted to be deleterious, while those below 0.5 are predicted to be neutral or benign
^dFrequency of variations in total of ExAC database.
^eFrequency of variations in East Asian population of ExAC database
^fFrequency of variation in total of gnomAD (genome Aggregation Database, a big database containing 123,136 exome sequences and 15,496 whole-genome sequences)

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