Table 1.

Potential causal variants detected in 8 patients with POF by whole-exome sequencing

GENE	Locus	dbSNP ID	Transcript ID	Sequence charge		Allele Frequency				Pathogenicity
				cDNA	AA	ExAC	gnomAD	1000G	KRGDB	VEST	CADD	Patient ID
EIF2B3	chr1:45446711	rs201162647	NM_020365.4	c.130G>A	P.Glu44Lys	0.00001	0.00001	0.00020	0.00080	0.823	33.0	P15
ERCC6	chr10:50682161	rs77027474	NM_000124.3	c.2510G>A	P.Arg837His	0.00011	0.00007	0.00060	0.00500	0.822	32.0	P5
HFM1	chr1:91781465	rs755200362	NM_001017975.4	c.3047A>G	P.Gln1016Arg	0.00001	0.00001	.	0.00080	0.583	23.6	P23
MCM8	chr20:5943969	rs749490653	NM_001281521.1	c.839C>G	P.Ser280Cys	0.00022	0.00022	.	0.00273	0.616	22.9	P32
MCM8	chr20:5958571	rs201813827	NM_001281521.1	c.1565C>T	P.Thr522Met	0.00008	0.00010	0.00020	0.00409	0.612	27.5	P14, P28
MCM9	chr6:119150409	rs757364893	NM_017696.2	c.1330G>C	P.Val444Leu	.	0.00002	.	0.00136	0.630	25.9	P26
PRE PL	chr2:44549950	rs140355063	NM_001171603.1	c.1940G>A	P.Arg647Gln	0.00009	0.00009	.	0.00500	0.672	32.0	P15
SALL4	chr20:50400817	rs189552205	NM_020436.3	c.3149T>C	P.Ile1050Thr	0.00002	0.00002	0.00020	0.00136	0.978	25.1	P23
TG	chr8:134107412	rs2272707	NM_003235.4	c.7364G>A	P.Arg2455His	0.00070	0.00078	0.00120	0.00818	0.857	27.3	P3

VEST analysis generates values between 0 and 1, and scores ≥ 0.5 were classified as pathogenic variants and those < 0.5 as benign. CADD analysis generates a PHRED-like scaled value. Scores ≥ 20 were classified as pathogenic variants and those < 20 as benign. Variants satisfying both CADD ≥ 20 and VEST ≥ 0.5 were classified as pathogenic