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Table 2 MUTYH sequence variants identified by HRMA in a set of 62 samples of unknown genotype

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

AMPLICON

GENOTYPES IDENTIFIED1

N. OF CASES

5'UTR

WT

60

 

c.[-127C > T]+[=]

1

 

c.[-205C > A]+[=]

1

EXON 2

WT

54

 

c.[64G > A]+[=]

4

 

c.[64G > A]+[64G > A]

1

 

c.[37G > A]+[=]

1

 

c.[56G > A]+[=]

1

 

c.[157+30A > G]+[=]

1

EXON 6

WT

55

 

c.[504+35G > A]+[=]

7

EXON 7

WT

58

 

c.[536A > G]+[=]

2

 

c.[544C > G]+[544C > G]

1

 

c.[1187-27C > T]+[=]

1

EXON 8

WT

61

 

c.[690+21C > A]+[=]

1

EXON 12

WT

38

 

c.[1014G > C]+[=]

19

 

c.[1014G > C]+[1014G > C]

5

EXON 13

WT

7

 

c.[1187G > A]+[=]

1

EXON 15

WT

61

 

c.[1477-40G > C]+[=]

1

EXON 16

WT

58

 

c.[1544C > T]+[=]

4

  1. 1In bold novel variants identified in this study by HRMA. WT = wild-type.