rs28897756
|
|
0.752 |
0.440 |
13 |
32379913 |
splice region variant
|
G/A;C;T
|
snv
|
4.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
41 |
1997 |
2017 |
rs80359013
|
|
0.882 |
0.280 |
13 |
32362595 |
stop gained
|
G/A;C
|
snv
|
8.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
31 |
2002 |
2018 |
rs28897743
|
|
0.827 |
0.280 |
13 |
32346896 |
missense variant
|
G/A;C;T
|
snv
|
4.0E-06
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
27 |
1997 |
2017 |
rs28897759
|
|
0.851 |
0.200 |
13 |
32394803 |
missense variant
|
A/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
27 |
2000 |
2016 |
rs28897743
|
|
0.827 |
0.280 |
13 |
32346896 |
missense variant
|
G/A;C;T
|
snv
|
4.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
26 |
1997 |
2018 |
rs80359013
|
|
0.882 |
0.280 |
13 |
32362595 |
stop gained
|
G/A;C
|
snv
|
8.0E-06
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
23 |
2002 |
2019 |
rs80359306
|
|
0.827 |
0.280 |
13 |
32333284 |
frameshift variant
|
A/-;AA
|
delins
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
23 |
1997 |
2014 |
rs28897759
|
|
0.851 |
0.200 |
13 |
32394803 |
missense variant
|
A/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
22 |
2000 |
2017 |
rs41293511
|
|
0.763 |
0.320 |
13 |
32363369 |
missense variant
|
G/A;C
|
snv
|
|
7.0E-06
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
22 |
2001 |
2018 |
rs80359306
|
|
0.827 |
0.280 |
13 |
32333284 |
frameshift variant
|
A/-;AA
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
21 |
1996 |
2017 |
rs80359507
|
|
0.882 |
0.200 |
13 |
32339700 |
frameshift variant
|
AAA/-;A;AA;AAAA;AAAAA
|
delins
|
|
2.8E-05
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
20 |
1997 |
2016 |
rs81002874
|
|
0.925 |
0.200 |
13 |
32363178 |
splice acceptor variant
|
G/A;C;T
|
snv
|
4.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
20 |
2002 |
2017 |
rs41293511
|
|
0.763 |
0.320 |
13 |
32363369 |
missense variant
|
G/A;C
|
snv
|
|
7.0E-06
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
19 |
2001 |
2014 |
rs80359031
|
|
0.763 |
0.320 |
13 |
32363190 |
missense variant
|
A/T
|
snv
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
19 |
2000 |
2017 |
rs80359198
|
|
0.882 |
0.200 |
13 |
32394717 |
missense variant
|
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06;
7.6E-05
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
19 |
1996 |
2018 |
rs80359507
|
|
0.882 |
0.200 |
13 |
32339700 |
frameshift variant
|
AAA/-;A;AA;AAAA;AAAAA
|
delins
|
|
2.8E-05
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
19 |
1997 |
2016 |
rs80359035
|
|
0.882 |
0.200 |
13 |
32363211 |
stop gained
|
C/A;G;T
|
snv
|
|
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
|
0.700 |
1.000 |
18 |
2004 |
2017 |
rs80359212
|
|
0.763 |
0.320 |
13 |
32394814 |
stop gained
|
C/T
|
snv
|
1.2E-05
|
4.2E-05
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
18 |
1990 |
2015 |
rs397507419
|
|
0.807 |
0.200 |
13 |
32379886 |
frameshift variant
|
AAAA/-;AAA;AAAAA
|
delins
|
4.0E-06
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
17 |
1997 |
2015 |
rs41293513
|
|
0.882 |
0.200 |
13 |
32363370 |
missense variant
|
A/C;G;T
|
snv
|
4.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
17 |
2004 |
2018 |
rs80358721
|
|
0.724 |
0.320 |
13 |
32339320 |
stop gained
|
C/A;G;R
|
snv
|
4.2E-06
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
17 |
2007 |
2018 |
rs80359071
|
|
0.882 |
0.200 |
13 |
32363445 |
missense variant
|
G/A
|
snv
|
8.0E-06
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
17 |
2004 |
2016 |
rs80359351
|
|
0.851 |
0.200 |
13 |
32337161 |
frameshift variant
|
ACAA/-
|
delins
|
|
2.1E-05
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
17 |
1998 |
2015 |
rs81002836
|
|
0.851 |
0.200 |
13 |
32362521 |
splice acceptor variant
|
A/G;T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
17 |
1999 |
2016 |
rs80358981
|
|
0.827 |
0.200 |
13 |
32356550 |
stop gained
|
C/T
|
snv
|
2.0E-05
|
1.4E-05
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.700 |
1.000 |
16 |
1997 |
2015 |