11 |
BRCA1
|
NM_007294.3(BRCA1):c.845C>G(p.Ser282*) |
Nonsense |
Germline |
25 |
BRIP1
|
NM_032043.2(BRIP1):c.1214C>A(p.Ser405*) |
Nonsense |
Germline |
31 |
BRCA1
|
NM_007294.3(BRCA1):exon17-19cn_del |
Large_genomic_rearrangement |
Germline |
33 |
BRIP1
|
NM_032043.2(BRIP1):c.1315C>T(p.Arg439*) |
Nonsense |
Germline |
42 |
BRCA2
|
NM_000059.3(BRCA2):c.6359C>G(p.Ser2120*) |
Nonsense |
Germline |
44 |
BRCA1
|
NM_007294.3(BRCA1):c.3770_3771del(p.Glu1257fs) |
Frameshift_variant |
Germline |
48 |
BRCA2
|
NM_000059.3(BRCA2):c.6405_6409del(p.Asn2135fs) |
Frameshift_variant |
Germline |
ATM
|
NM_000051.3(ATM):c.4852C>T(p.Arg1618*) |
Nonsense |
Germline |
PTEN
|
NM_000314.6(PTEN):c.844G>T(p.Gly282*) |
Nonsense |
Somatic |
18 |
PTEN
|
NM_000314.6(PTEN):c.346del(p.Asp116fs) |
Frameshift_variant |
Somatic |
PTEN
|
NM_000314.6(PTEN):c.389G>A(p.Arg130Gln) |
Missense_variant |
Somatic |
22 |
BRCA1
|
NM_007294.3(BRCA1):c.4327C>T(p.Arg1443*) |
Nonsense |
Somatic |
26 |
BRCA2
|
NM_000059.3(BRCA2):c.475+1G>A |
Splice_donor_variant |
Somatic |
27 |
PTEN
|
cn_del |
Cn_del |
Somatic |
28 |
BRIP1
|
NM_032043.2(BRIP1):c.1741C>T(p.Arg581*) |
Nonsense |
Somatic |
34 |
BRCA2
|
NM_000059.3(BRCA2):exon25-27cn_del |
Large_genomic_rearrangement |
Somatic |