Table 2.

BRCA1/2 gene mutation associated with RECQL gene.

Exo	DNA alteration	Protein alteration	BRCA1/2 gene mutation
16	c.2 T > C	p.Met1?	BRCA1(c.4900A > G/c.3548A > G/c.3113A > G/c.2612C > T/ c.2082C > T/c.3448C > T) BRCA2 (c.1114A > C/c.7397 T > C)
16	c.1805C > T	p.Ser602Leu
16	c.631A > G	p.Arg211Gly
16	c.1063A > G	p.Thr355Ala	BRCA2 (c.7397 T > C)
16	c.199G > A	p.Ala67Thr	BRCA2 (c.1114A > C/c.7397 T > C)
16	c.1088A > G	p.Asn363Ser	BRCA1 (c2082C > T/c2612C > T/c3113A > G/c3548A > G/ c.4900A > G) BRCA2 (c.865A > C/c.2971A > G/c.7397 T > C/ c.1114A > C)
16	c.644G > A	p.Arg215Gln	BRCA1 (c.3448C > T/c2082C > T/c2612C > T/c3113A > G/ c3548A > G/ c.4900A > G) BRCA2 (c.7397 T > C/c.7522G > A/c.1114A > C/ c.7397 T > C)
16	c.1114G > A	p.Val372Ile	BRCA1 (c2082C > T/c2612C > T/c3113A > G/c3548A > G/ c.4900A > G) BRCA2 (c.7397 T > C/ c.1114A > C)
16	c.1361G > A	p.Arg454His	BRCA1 (/c2082C > T/c2612C > T/c3113A > G/ c3548A > G/ c.4900A > G) BRCA2 (c.7397 T > C/ c.2971A > G/ c.865A > C/c.10234A > G)
16	c.1637 T > C	p.Ile546Thr	BRCA2 (c.7397 T > C/ c.1114A > C)
16	c.1090G > A	p.Glu364Lys	BRCA1 (/c2082C > T/c2612C > T/c3113A > G/ c3548A > G/ c.4900A > G/c.5420 T > C) BRCA2 (c.7397 T > C)
16	c.788C > T	p.Thr263Met	BRCA1 (/c2082C > T/c2612C > T/c3113A > G/c3548A > G/ c.4900A > G/c.2566 T > C) BRCA2 (c.7397 T > C/ c.1114A > C)
16	c.1123G > T	p.Gly375Cys	BRCA2 (c.7397 T > C/ c.1114A > C)
16	c.1211G > C	p.Arg404Pro	BRCA2 (c.7397 T > C/ c.1114A > C/c.10234A > G/c.7691C > T)
15	c.700 + 1G > T		BRCA1 (/c2082C > T/c2612C > T/c3113A > G/c3548A > G/ c.4900A > G) BRCA2 (c.7397 T > C/ c.5785A > G)
16	c.1729A > C	p.Asn577His	BRCA1 (c2082C > T/c2612C > T/c3113A > G/c3548A > G/ c.4900A > G) BRCA2 (c.7397 T > C/ c.5785A > G/c.10234A > G)