Table D.

Database on hMLH1: Intragenic Polymorphisms and Sequence Variants^[Note]

Exon	Codon	Nucleotide Change	Consequence	ESE	Allele Frequency	Geographic Origin	Family ID	Reference
2	66	C→T at 198	Thr→Thr	0	.01	Germany	7	Wehner et al., Hum Mut 10:241–244 (1997)
8	219	A→G at 655	Ile→Val	1	.33	Italy	Italian kindreds	A. Piepoli (unpublished)
8	219	A→C at 655	Ile→Leu	1	.31	None specified	…	Möslein et al., Hum Mol Genet 5:1245–1252 (1996)
12	406	G→A at 1217	Ser→Asn	0	.015	Finland	Finnish patients with colorectal cancer	Wu et al., Genes Chrom Cancer 4:269–278 (1997)
16	618	AA→GC at 1852, 1853	Lys→Ala	0	.001	None specified	…	A. M. Deffenbaugh et al. (unpublished)
17	653	G→T at 1959	Leu→Leu	1	…	United Kingdom	36902	G. Norbury et al. (unpublished) (1999)
18	676	C→T at 2028	Leu→Leu	0	…	Czech Republic	Patient 386	A. Krepelova (unpublished)
19	718	C→T at 2152	His→Tyr	0	.144	African American	…	Kowalski et al., Genes Chromosomes Cancer 18:219–227 (1997)

Note.— The table enlists missense mutations from the HNPCC mutation database (accessed March 2003).