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. 2006 Aug 15;4(3):142–152. doi: 10.1186/1897-4287-4-3-142

Table 4.

BRCA1 gene polymorphism in probands without BRCA1 and BRCA2 gene mutation as shown by sequencing

Nucleotide Amino acid swap Exon/intron Frequency
IVS8-58delT NC 7 Wt/Wt 33
WT/delT 30
delT/delT 8

1186A/G Gln356Arg 11 6

2430T/C Leu771Leu 11 T/T 33
T/C 30
C/C 8

2731 C/T Pro871Leu 11 C/C 33
C/T 30
T/T 8

3367A/G Lys1183Arg 11 A/A 33
A/G 30
G/G 8

4427T/C Ser1436Ser 13 T/T 33
T/C 30
C/C 8

4956A/G Ser1613Gly 16 A/A 33
A/G 30
G/G 8

IVS18+66G/A NC 18 G/G 33
G/A 30
A/A 8

IVS20+60ins12 NC 20 2

NC - non-coding sequence; Wt - wild-type sequence