Table 1.

Summary of ESR1 and ESR2 variants identified by WGS.

Patient ID	Chr	Gene	cDNA change	AA change	Mutation type	REF	ALT	ExAC_pLI	SITF	Polyphen2	CADD	ExAC	1000G	gnomAD
AIS1188	6	ESR1	c.868A>G	p.Asn290Asp	Missense	A	G	0.99	T	P	13.47	0	0	0
AIS80	14	ESR2	c.236T>C	p.Leu79Ser	Missense	T	C	0	D	P	10.51	0	0	0.0001

Chr – chromosomal localization; cDNA change – nucleotide change; AA change – amino acid change; REF – the reference allele; ALT – the alternative allele; ExAC_pLI – the probability of being loss-of-function intolerant (pLI) score from Exome Aggregation Consortium (ExAC); SIFT – sorting intolerant from tolerant; PolyPhen-2 – polymorphism phenotyping v2; CADD – Combined Annotation Dependent Depletion; T – tolerated; D – deleterious; damaging, P – possibly damaging; Public data base (ExAC_HomoAlt, 1000G_ALL and gnomAD_genome_ALL).