rs28897743
|
0.827 |
0.280 |
13 |
32346896 |
missense variant |
G/A;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 |
27 |
1997 |
2017 |
rs80359013
|
0.882 |
0.280 |
13 |
32362595 |
stop gained |
G/A;C
|
snv
|
8.0E-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 |
23 |
2002 |
2019 |
rs80359306
|
0.827 |
0.280 |
13 |
32333284 |
frameshift variant |
A/-;AA
|
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 |
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
|
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 |
2000 |
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
|
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 |
1997 |
2016 |
rs41293511
|
0.763 |
0.320 |
13 |
32363369 |
missense variant |
G/A;C
|
snv
|
|
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 |
19 |
2001 |
2014 |
rs80359031
|
0.763 |
0.320 |
13 |
32363190 |
missense variant |
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 |
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
|
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 |
rs80359212
|
0.763 |
0.320 |
13 |
32394814 |
stop gained |
C/T
|
snv
|
1.2E-05
|
4.2E-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 |
1990 |
2015 |
rs397507419
|
0.807 |
0.200 |
13 |
32379886 |
frameshift variant |
AAAA/-;AAA;AAAAA
|
delins
|
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 |
17 |
1997 |
2015 |
rs80359071
|
0.882 |
0.200 |
13 |
32363445 |
missense variant |
G/A
|
snv
|
8.0E-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 |
17 |
2004 |
2016 |
rs80359351
|
0.851 |
0.200 |
13 |
32337161 |
frameshift variant |
ACAA/-
|
delins
|
|
2.1E-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 |
1998 |
2015 |
rs80358981
|
0.827 |
0.200 |
13 |
32356550 |
stop gained |
C/T
|
snv
|
2.0E-05
|
1.4E-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 |
16 |
1997 |
2015 |
rs80359550
|
0.807 |
0.280 |
13 |
32340301 |
frameshift variant |
T/-
|
del
|
|
1.8E-04
|
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 |
16 |
1996 |
2016 |
rs81002899
|
0.851 |
0.280 |
13 |
32326615 |
splice donor variant |
T/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 |
16 |
2000 |
2016 |
rs11571658
|
0.851 |
0.240 |
13 |
32340630 |
frameshift variant |
TT/-
|
del
|
|
2.8E-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 |
15 |
1996 |
2012 |
rs80358721
|
0.724 |
0.320 |
13 |
32339320 |
stop gained |
C/A;G;R
|
snv
|
4.2E-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 |
15 |
2007 |
2016 |
rs80359316
|
0.925 |
0.200 |
13 |
32336284 |
frameshift variant |
G/-
|
del
|
|
|
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 |
15 |
1997 |
2013 |
rs80359537
|
0.925 |
0.200 |
13 |
32340150 |
frameshift variant |
TA/-
|
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 |
15 |
2002 |
2014 |
rs80359596
|
0.827 |
0.240 |
13 |
32340817 |
frameshift variant |
TCTC/-;TC;TCTCTC
|
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 |
15 |
1997 |
2012 |
rs80359598
|
0.882 |
0.200 |
13 |
32340837 |
frameshift variant |
ACAA/-
|
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 |
15 |
2000 |
2017 |
rs80359730
|
0.925 |
0.200 |
13 |
32379465 |
frameshift variant |
C/-
|
delins
|
|
1.4E-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 |
15 |
1998 |
2017 |
rs276174854
|
0.925 |
0.200 |
13 |
32339499 |
frameshift variant |
TATG/-
|
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 |
14 |
2002 |
2015 |
rs28897756
|
0.752 |
0.440 |
13 |
32379913 |
splice region variant |
G/A;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 |
14 |
2000 |
2015 |
rs397515636
|
0.882 |
0.200 |
13 |
32338329 |
frameshift variant |
-/TGCT
|
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 |
14 |
2000 |
2015 |