Table 1.

Nonsense or frameshift mutations in the HBOC core gene identified by whole-exome sequencing in 29 ovarian cancer patients.

Gene	Variant ID	Nucleic acid change	Amino acid change	Allele frequency (gnomAD)	ClinVar	Mutation-taster	Ovarian cancer patient
BRCA1	rs80357692	c.3329_3330insA	p.Lys1110Gln1111fs	0.00001199	n.d.	Disease causing	3
	rs80357526	c.1953_1956delGAAA	p.Lys651fs	0.00000657	Pathogenic	Disease causing	6
	rs80357661	c.2767_2770delGTTA	p.Val923fs	0.000006572	Pathogenic	Disease causing	28
BRCA2	n.d.	c.1314_1315delTT	p.Asp438fs	n.d.	n.d.	Disease causing	8
	rs80358920	c.6952C>T	p.Arg2318*	n.d.	Pathogenic	Disease causing	10