Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis

Table 2 Four germline variants that segregate with endometriosis were identified in exome sequencing

	FGFR4	NALCN	NAV2	SMARCAL1
Variant information
Zygozity	Heterozygous	Heterozygous	Heterozygous	Heterozygous
HGVS coding^a	c.1238C>T	c.5065C>T	c.2086G>A	c.1196C>T
HGVS protein^a	p.(Pro413Leu)	p.(Arg1689Trp)	p.(Val696Met)	p.(Thr399Met)
Transcript^b	ENST00000292408.9	ENST00000251127.11	ENST00000349880.9	ENST00000357276.9
Population frequencies
Total^c	0.00001598	0.0002192	0	0.001248
Finnish^c	0.0001850	0.0007964	0	0.001075
Predictions
Domino score^d	0.586	0.364	0.303	0.089
CADD score^e	27.7	26.6	13.84	0.041
REVEL score^f	0.609	0.352	0.004	0.116

^aHuman Genome Variation Society
^bEnsembl canonical transcript GRCh38.p13 release 108
^cAllele frequencies in Genome Aggregation Database gnomAD v2.1.1 liftover
^dScore is the probability of autosomal dominant inheritance P(AD)
^eCombined Annotation-Dependent Depletion PHRED score. Values > 15 were considered likely pathogenic
^fRare Exome Variant Ensemble Learner. Values > 0.5 were considered likely pathogenic

ISSN: 1479-7364