. 2015 May 21;5:10424. doi: 10.1038/srep10424

Table 1. The point mutations detected in this study in breast and/or ovarian cancer susceptible patients.

sample ID	sample type	type of family	nucleotide change	canonical AA translation of nt change	predicted effect of the mutation
#53	unselected ovarian	Br/Ov	c.1690C >T	p.Gln564*	deleterious nonsense mutation²³,²⁷
#4031	familial	Br	c.1690C >T	p.Gln564*	deleterious nonsense mutation²³,²⁷
#4163	familial	Br/Ov	c.1972C >T	p.Arg658Cys	missense mutation, described either as deleterious, potentially deleterious or neutral⁷,¹⁰,¹²,¹⁹,³⁸PANTHER: change in conserved AA, score -3.030/-10; PolyPhen2: probably damaging, score 0.995/1
#4349	familial	Br	c.1972C >T	p.Arg658Cys
#4062	familial	Br/Ov	c.1977A >G	p.Arg659Arg	deleterious splice mutation (exons 2-9 deletion; p.Cys53_Trp635delinsfs*12)²³
#4217	familial	Br/Ov	c.1977A >G	p.Arg659Arg
#4321	familial	Br	c.1977A >G	p.Arg659Arg

Br – site specific breast cancer family, Br/Ov – breast and ovarian cancer family; The variation sites are defined based on NM_000465 BARD1 sequence.