Table 5.

Polymorphisms in either of the major MMR genes.

Gene	Location	Nucleotide change	Protein effect	Families with the variant
MLH1	Intron 6	c.545+72T > A	N.A	2
	Exon 8	c.655A > G	p.Ile219Val	12*
	Intron 14	c.1668-19A > G	N.A	6*
MSH2	Intron 1	c.211+8G > C	N.A	2
	Intron 1	c.211+9C > G	N.A	4
	Intron 3	c.646-46delC	N.A	1
	Exon 6	c.965G > A	p.Gly322Asp	6
	Intron 10	c.1661+12G > A	N.A	14*
	Intron 12	c.2006-6T > C	N.A	9*
MSH6	Intron 1	c.261-36 A > G	N.A.	2
	Exon 1	c.116 G > A	p.Gly39Glu	2
	Exon 1	c.186 C > A	p. Arg62Arg	2*
	Exon 2	c.276 A > G	p.Pro92Pro	4*
	Exon 3	c.540 T > C	p.Asp180Asp	4*
	Intron 4	c.3173-101 C > G	N.A.	1
	Exon 5	c.3438+14 A > T	N.A.	8*
	Intron 7	c.3646+29_3646+32delCTAT	N.A.	3*
	Intron 8	c.3802-40 C > G	N.A.	8*
	Exon 8	c.3678 A > G	p.Ala1226Ala	1