rs758304323
|
0.925 |
0.160 |
7 |
5999277 |
splice acceptor variant |
T/C
|
snv
|
1.2E-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 |
2011 |
2017 |
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 |
rs1554293810
|
|
|
7 |
5977620 |
stop gained |
G/A
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
1999 |
2010 |
rs267608159
|
1.000 |
0.160 |
7 |
5987526 |
frameshift variant |
TTT/-;TTTT;TTTTTT
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs587778618
|
|
|
7 |
5987078 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
1.2E-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 |
2010 |
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 |
rs587779342
|
0.925 |
0.200 |
7 |
5999199 |
missense variant |
T/G
|
snv
|
8.0E-06
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2015 |
rs587780062
|
0.827 |
0.240 |
7 |
5995614 |
stop gained |
G/A;C
|
snv
|
8.0E-06;
8.0E-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 |
2013 |
2016 |
rs587782336
|
|
|
7 |
5982993 |
splice acceptor variant |
T/G
|
snv
|
6.3E-06
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2014 |
rs63750490
|
1.000 |
0.160 |
7 |
5986925 |
stop gained |
T/A
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2008 |
2013 |
rs786202098
|
|
|
7 |
6002638 |
splice acceptor variant |
T/C
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2016 |
rs1060503137
|
|
|
7 |
5986900 |
frameshift variant |
TA/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2012 |
2013 |
rs111466480
|
|
|
7 |
6003688 |
splice donor variant |
A/C;G
|
snv
|
4.3E-06
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |
rs1554297040
|
|
|
7 |
5986758 |
splice donor variant |
C/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 |
2 |
2011 |
2014 |
rs1554300689
|
|
|
7 |
5995533 |
splice donor variant |
C/A;G
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |
rs1554306445
|
1.000 |
0.160 |
7 |
6005948 |
splice acceptor variant |
CTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCA/ATTT
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2010 |
2011 |
rs1562604682
|
|
|
7 |
5978594 |
splice donor variant |
A/G
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |
rs1562605623
|
|
|
7 |
5978697 |
splice acceptor variant |
C/G
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |
rs1562616355
|
|
|
7 |
5982992 |
splice acceptor variant |
CTGC/GTGT
|
mnv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |
rs1562664845
|
|
|
7 |
5995634 |
splice acceptor variant |
C/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 |
2 |
2011 |
2014 |
rs1562669585
|
|
|
7 |
5997325 |
splice donor variant |
C/A
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |
rs267608147
|
1.000 |
0.160 |
7 |
5999107 |
splice donor variant |
C/A;G
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |
rs267608156
|
1.000 |
0.160 |
7 |
5989867 |
frameshift variant |
-/A
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2008 |
2013 |
rs587778617
|
0.807 |
0.240 |
7 |
5987504 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2013 |
2016 |
rs587779326
|
1.000 |
0.160 |
7 |
5989831 |
frameshift variant |
AT/TAAA
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2016 |
2016 |