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Table 1 MUTYH genotypes in the 26 samples used to set up the HRMA assay

From: High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene

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
  1. 1In bold genetic variants identified by direct sequencing and HRMA, but not by SSCP.
  2. 2Novel variant identified in this study.
  3. 3These two variants were present in the same sample, but their phase is unknown.
  4. WT = wild-type.