rs1554292684
|
1.000 |
0.160 |
7 |
5973399 |
stop lost |
TCAGTTCTGAGAAATGACACCCAGGTTGGCGATGTGTCTCATGGTTGGCCTTCCATGGGGACAGTTCCAGGGGTGGTCCATCTCCCCCATGTGGGTGATCAGTTTCTTCATCTCGCTTGTGTTAAGAGCAGTCCCAATCATCAC/-
|
del
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs587780058
|
|
|
7 |
5973413 |
missense variant |
T/C
|
snv
|
|
|
Malignant Neoplasms
|
Neoplasms
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs587780058
|
|
|
7 |
5973413 |
missense variant |
T/C
|
snv
|
|
|
Primary malignant neoplasm
|
Neoplasms
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1064793328
|
|
|
7 |
5973425 |
missense variant |
T/C
|
snv
|
|
|
Malignant Neoplasms
|
Neoplasms
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1064793328
|
|
|
7 |
5973425 |
missense variant |
T/C
|
snv
|
|
|
Primary malignant neoplasm
|
Neoplasms
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1554292741
|
|
|
7 |
5973454 |
missense variant |
T/A
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
2 |
2013 |
2016 |
rs1064796500
|
1.000 |
0.160 |
7 |
5973455 |
frameshift variant |
G/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs267608174
|
1.000 |
0.160 |
7 |
5973460 |
missense variant |
C/T
|
snv
|
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
10 |
1999 |
2013 |
rs876661203
|
|
|
7 |
5973466 |
stop gained |
C/T
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs886039646
|
1.000 |
0.160 |
7 |
5973467 |
frameshift variant |
A/-
|
del
|
|
2.8E-05
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
4 |
1999 |
2016 |
rs886039646
|
1.000 |
0.160 |
7 |
5973467 |
frameshift variant |
A/-
|
del
|
|
2.8E-05
|
Turcot syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2015 |
2017 |
rs886039646
|
1.000 |
0.160 |
7 |
5973467 |
frameshift variant |
A/-
|
del
|
|
2.8E-05
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs786201039
|
|
|
7 |
5973482 |
stop gained |
C/A;T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs587781626
|
1.000 |
0.160 |
7 |
5973487 |
frameshift variant |
AT/C
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
1999 |
2016 |
rs587781626
|
1.000 |
0.160 |
7 |
5973487 |
frameshift variant |
AT/C
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs587781626
|
1.000 |
0.160 |
7 |
5973487 |
frameshift variant |
AT/C
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1554292880
|
1.000 |
0.160 |
7 |
5973529 |
frameshift variant |
-/T
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs774583397
|
|
|
7 |
5973543 |
splice acceptor variant |
C/A;G
|
snv
|
8.7E-06
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1562598658
|
|
|
7 |
5977078 |
splice donor variant |
GAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCAG/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs876661113
|
|
|
7 |
5977587 |
splice donor variant |
C/A;G;T
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
8 |
2009 |
2016 |
rs876661113
|
|
|
7 |
5977587 |
splice donor variant |
C/A;G;T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
4 |
2009 |
2015 |
rs587779338
|
0.851 |
0.200 |
7 |
5977589 |
missense variant |
G/A
|
snv
|
1.0E-05
|
2.1E-05
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
10 |
2010 |
2018 |
rs587779338
|
0.851 |
0.200 |
7 |
5977589 |
missense variant |
G/A
|
snv
|
1.0E-05
|
2.1E-05
|
Turcot syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1995 |
2016 |
rs587779338
|
0.851 |
0.200 |
7 |
5977589 |
missense variant |
G/A
|
snv
|
1.0E-05
|
2.1E-05
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2016 |
2018 |
rs587779338
|
0.851 |
0.200 |
7 |
5977589 |
missense variant |
G/A
|
snv
|
1.0E-05
|
2.1E-05
|
Hereditary Malignant Neoplasm
|
Neoplasms
|
0.010 |
1.000 |
1 |
2017 |
2017 |