rs80357064
|
0.882 |
0.200 |
17 |
43106478 |
stop lost |
A/C;G
|
snv
|
1.2E-05
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
19 |
1994 |
2015 |
rs80357382
|
0.763 |
0.240 |
17 |
43106457 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
16 |
1999 |
2014 |
rs80357086
|
0.851 |
0.200 |
17 |
43106480 |
stop gained |
A/G;T
|
snv
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
11 |
1995 |
2019 |
rs80356923
|
0.882 |
0.200 |
17 |
43091891 |
stop gained |
C/A;T
|
snv
|
9.9E-05
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
10 |
1996 |
2014 |
rs886039981
|
0.925 |
0.200 |
17 |
43093613 |
stop gained |
G/A
|
snv
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.710 |
1.000 |
1 |
2014 |
2014 |
rs28897672
|
0.732 |
0.280 |
17 |
43106487 |
missense variant |
A/C;G;T
|
snv
|
3.2E-05
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
34 |
1994 |
2013 |
rs41293459
|
0.763 |
0.280 |
17 |
43063930 |
missense variant |
C/A;G;T
|
snv
|
2.4E-05
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
33 |
2001 |
2019 |
rs41293463
|
0.790 |
0.280 |
17 |
43051071 |
missense variant |
A/C;T
|
snv
|
1.2E-05
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
30 |
1994 |
2014 |
rs80357522
|
0.776 |
0.280 |
17 |
43093570 |
frameshift variant |
TTTT/-;TT;TTT;TTTTT
|
delins
|
|
7.0E-06
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
29 |
1995 |
2015 |
rs28897696
|
0.807 |
0.200 |
17 |
43063903 |
missense variant |
G/A;C;T
|
snv
|
2.8E-05;
4.0E-06;
2.0E-05
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
28 |
1994 |
2016 |
rs41293455
|
0.827 |
0.200 |
17 |
43082434 |
stop gained |
G/A;C
|
snv
|
2.4E-05;
3.2E-05
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
28 |
1994 |
2013 |
rs41293465
|
0.851 |
0.200 |
17 |
43045767 |
stop gained |
G/A
|
snv
|
1.2E-05
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
26 |
1996 |
2016 |
rs45553935
|
0.851 |
0.200 |
17 |
43057122 |
missense variant |
A/C;G;T
|
snv
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
26 |
2004 |
2019 |
rs80357150
|
0.925 |
0.200 |
17 |
43106528 |
missense variant |
C/A;T
|
snv
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
22 |
1996 |
2018 |
rs80357914
|
0.827 |
0.200 |
17 |
43124028 |
frameshift variant |
CT/-;CTCT
|
delins
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
22 |
1994 |
2018 |
rs80356898
|
0.752 |
0.200 |
17 |
43093844 |
stop gained |
G/A;C
|
snv
|
2.8E-05;
4.0E-06
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2016 |
rs80357069
|
0.882 |
0.200 |
17 |
43049164 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
20 |
1998 |
2016 |
rs80357609
|
0.851 |
0.200 |
17 |
43091827 |
frameshift variant |
TTTAC/-
|
delins
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
20 |
1995 |
2016 |
rs55851803
|
0.925 |
0.200 |
17 |
43106477 |
splice donor variant |
C/G;T
|
snv
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
19 |
1994 |
2014 |
rs80356959
|
0.851 |
0.200 |
17 |
43045761 |
missense variant |
A/C;G
|
snv
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
19 |
1996 |
2018 |
rs62625308
|
0.851 |
0.200 |
17 |
43091924 |
stop gained |
G/A;C
|
snv
|
1.2E-05
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
18 |
1994 |
2016 |
rs80357061
|
0.882 |
0.200 |
17 |
43067616 |
missense variant |
A/C;G
|
snv
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
18 |
2003 |
2016 |
rs80357268
|
0.827 |
0.200 |
17 |
43045773 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
18 |
1998 |
2016 |
rs80357701
|
0.925 |
0.200 |
17 |
43092197 |
frameshift variant |
GCTT/-
|
delins
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
18 |
1996 |
2016 |
rs80357123
|
0.827 |
0.200 |
17 |
43057078 |
stop gained |
G/A;C;T
|
snv
|
1.2E-05
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1997 |
2016 |