Table 1.

MUTYH genotypes in the 26 samples used to set up the HRMA assay

AMPLICON	SSCP ANALYSIS	HRMA/SEQUENCING1	N. OF CASES
EXON 1	WT	WT	26
EXON 2	WT	WT	23
	WT	c.[64G > A]+[=]	1
	c.[64G > A]+[64G > A]	c.[64G > A]+[64G > A]	2
EXON 3	WT	WT	26
EXON 4	WT	WT	26
EXON 5	WT	WT	26
EXON 6	WT	WT	18
	c.[504+35G > A]+[=]	c.[504+35G > A]+[=]	7
	c.[481G > C]+[=]	c.[481G > C]+[=]	1
EXON 7	WT	WT	19
	c.[536A > G]+[536A > G]	c.[536A > G]+[536A > G]	2
	c.[536A > G]+[=]	c.[536A > G]+[=]	5
EXON 8	WT	WT	26
EXON 9	WT	WT	26
EXON 10	WT	WT	26
EXON 11	WT	WT	26
EXON 12	WT	WT	16
	c.[1014G > C]+[=]	c.[1014G > C]+[=]	6
	WT	c.[1014G > C]+[1014G > C]	1
	c.[1147delC]+[=]	c.[1147delC]+[=]	1
	c.[1023_1024insGA]2+[=]	c.[1023_1024insGA]2+[=]	1
	c.[1163T > C]+[=]	c.[1163T > C]+[=]	1
EXON 13	WT	WT	19
	c.[1187G > A]+[1187G > A]	c.[1187G > A]+[1187G > A]	1
	c.[1187G > A]+[=]	c.[1187G > A]+[=]	4
	c.[1227_1228dupGG]+[1227_1228dupGG]	c.[1227_1228dupGG]+[1227_1228dupGG]	1
	c.[1187-27C > T(+)1258C > A]3	c.[1187-27C > T(+)1258C > A]3	1
EXON 14	WT	WT	24
	c.[1437_1439delGGA]+[=]	c.[1437_1439delGGA]+[=]	1
	c.[1437_1439delGGA]+[1437_1439delGGA]	c.[1437_1439delGGA]+[1437_1439delGGA]	1
EXON 15	WT	WT	26
EXON 16	WT	WT	26

¹In bold genetic variants identified by direct sequencing and HRMA, but not by SSCP.

²Novel variant identified in this study.

³These two variants were present in the same sample, but their phase is unknown.

WT = wild-type.