Sample Id
|
Gene name
|
Coordinate [position] (hg19)
|
Mutation Types
|
Significance
|
Exon
|
Nucleotide change
|
Amino acid change
|
---|
1
|
BRCA2
|
32,931,983
|
Stopgain
|
pathogenic
|
16
|
c.7722 G > A
|
p.Trp2574Ter
|
2
|
BRCA2
|
32,906,729
|
Nonsynonymous
|
VUS
|
10
|
c.1114 A > C
|
p.Asn372His
|
3
|
BRCA2
|
32,907,407
|
Nonsynonymous
|
VUS
|
10
|
c.1792A > G
|
p.Thr598Ala
|
4
|
BRCA1
|
41,222,983
|
Nonsynonymous*
|
Pathogenic
|
16
|
c.5011 T > C
|
p.Met1671Val
|
5
|
BRCA1
|
41,245,262
|
Nonsynonymous
|
VUS
|
10
|
c.2286A > T
|
p.Arg762Ser
|
6
|
BRCA1
|
41,243,553
|
Nonsynonymous
|
VUS
|
10
|
c.3995 C > A
|
p.Gly1332Val
|
7
|
BRCA2
|
32,906,916–32,906,923
|
frameshift deletion *
|
Pathogenic
|
10
|
c.1301_1308del AAAGAAAG
|
p.Lys436Phefs*
|
8
|
BRCA1
|
41,246,489
|
Stopgain
|
pathogenic
|
10
|
c.1058G > A
|
p.Trp353Ter
|
9
|
BRCA2
|
32,899,247
|
frameshift deletion *
|
Pathogenic
|
4
|
c.351_352delTC
|
p.Arg118Hisfs*
|
10
|
ERBB2
|
37,880,988
|
Nonsynonymous*
|
VUS
|
24
|
c.2272 G > C
|
p.Val758Leu
|
11
|
BRCA2
|
32,914,943
|
Nonsynonymous*
|
Pathogenic
|
11
|
c.6451 G > A
|
p.Val2151Ile
|
- *defines the novel variants in our cohort