Table 1. MLH1 exon 10 variants analyzed in this study.

MLH1 exon 10 spans nucleotide positions c.791 to c.884. The first and the last 3 exonic positions (delineated by the dashed line) are an integral part of the 3’ss and 5’ss consensus sequences, respectively. LOVD, Leiden Open Variation Database; dbSNP, the Single Nucleotide Polymorphism database; UMD-MLH1, Universal Mutation Database-MLH1; Swiss-Prot, the European protein sequence database. Variant classification was retrieved from the LOVD database and refers to the 5-tier system used by the InSiGHT Variant Interpretation Committee (http://insight-group.org/variants/classifications/) as follows: 1, not pathogenic; 2, likely not pathogenic; 3, uncertain; (also called VUS for variants of unknown significance); 4, likely pathogenic; 5, pathogenic; n/a, not available.

Position in MLH1 exon 10	Nucleotide variant	Predicted amino acid change	Databases	Variant classification
+1	c.791A>G	p.His264Arg	LOVD, dbSNP	3
+3	c.793C>A	p.Arg265Ser	LOVD, dbSNP	4
+3	c.793C>T	p.Arg265Cys	LOVD, dbSNP, UMD-MLH1	5
+4	c.794G>A	p.Arg265His	LOVD, dbSNP, UMD-MLH1	3
+13	c.803A>G	p.Glu268Gly	LOVD, dbSNP	1
+16	c.806C>G	p.Ser269*	LOVD, dbSNP, UMD-MLH1	5
+24	c.814T>G	p.Leu272Val	LOVD, dbSNP	3
+25	c.815T>C	p.Leu272Ser	LOVD, dbSNP	n/a
+50	c.840T>A	p.Tyr280*	LOVD, dbSNP	5
+52	c.842C>T	p.Ala281Val	LOVD, dbSNP, UMD-MLH1	5
+55	c.845C>G	p.Ala282Gly	LOVD, dbSNP, Swiss-Prot	2
+61	c.851T>A	p.Leu284*	LOVD, dbSNP, UMD-MLH1	5
+65	c.855C>T	p. = (p.Pro285Pro)	LOVD, dbSNP	n/a
+66	c.856A>C	p.Lys286Gln	LOVD, dbSNP	3
+71	c.861C>T	p. = (p.Asn287Asn)	LOVD, dbSNP	3
+85	c.875T>C	p.Leu292Pro	LOVD, dbSNP, Swiss-Prot	3
+92	c.882C>G	p. = (p.Leu294Leu)	LOVD	3
+92	c.882C>T	p. = (p.Leu294Leu)	LOVD, dbSNP, UMD-MLH1	5
+93	c.883A>C	p.Ser295Arg	LOVD, dbSNP	5
+93	c.883A>G	p.Ser295Gly	LOVD, dbSNP	5
+94	c.884G>A	p.Ser295Asn	LOVD, dbSNP	5
+94	c.884G>C	p.Ser295Thr	LOVD, dbSNP, Swiss-Prot	4