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