rs863225397
|
|
|
2 |
47414268 |
splice acceptor variant |
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 |
4 |
2005 |
2016 |
rs1553370431
|
|
|
2 |
47480820 |
frameshift variant |
-/G
|
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 |
1998 |
2008 |
rs1060502039
|
|
|
2 |
47475060 |
frameshift variant |
T/-
|
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 |
2005 |
2014 |
rs1064795329
|
|
|
2 |
47475021 |
splice acceptor variant |
AGGCTATGTAGAACCAATGCAGACAC/-
|
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 |
2005 |
2014 |
rs1114167841
|
|
|
2 |
47480690 |
splice acceptor variant |
TTATA/-
|
del
|
|
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 |
2005 |
2014 |
rs1114167845
|
|
|
2 |
47414416 |
stop gained |
C/A;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 |
2010 |
2012 |
rs1553348901
|
|
|
2 |
47403392 |
splice donor variant |
GGCAGGTGAGGGCCGGGACGGCGCGTGCTGGGGAGGGACCCGGGGCC/-
|
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 |
2005 |
2014 |
rs1553366680
|
|
|
2 |
47466810 |
splice donor 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 |
2 |
2005 |
2014 |
rs587779133
|
|
|
2 |
47476421 |
missense 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 |
2 |
2010 |
2012 |
rs63750330
|
|
|
2 |
47466710 |
stop gained |
T/A;C
|
snv
|
3.1E-04
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
2 |
2005 |
2014 |
rs786201066
|
|
|
2 |
47445622 |
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 |
1.000 |
2 |
2003 |
2012 |
rs1553350167
|
|
|
2 |
47408481 |
stop gained |
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 |
1 |
2011 |
2011 |
rs1553361289
|
|
|
2 |
47445642 |
frameshift variant |
T/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1553365719
|
|
|
2 |
47463054 |
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 |
1 |
2009 |
2009 |
rs1553370397
|
|
|
2 |
47480794 |
stop gained |
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 |
1 |
2017 |
2017 |
rs587779979
|
|
|
2 |
47414407 |
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 |
1 |
2016 |
2016 |
rs863225394
|
|
|
2 |
47478358 |
frameshift variant |
T/-
|
del
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs878853824
|
|
|
2 |
47412558 |
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 |
1.000 |
1 |
2000 |
2000 |
rs1060501989
|
|
|
2 |
47410115 |
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 |
|
|
rs1060501993
|
|
|
2 |
47403404 |
splice donor 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 |
|
0 |
|
|
rs1060501994
|
|
|
2 |
47429776 |
stop gained |
G/A;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 |
|
|
rs1060502000
|
|
|
2 |
47403278 |
frameshift variant |
GCCG/-
|
del
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1060502001
|
|
|
2 |
47403276 |
stop gained |
A/T
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1060502023
|
|
|
2 |
47463156 |
splice donor 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 |
|
0 |
|
|
rs1060502027
|
|
|
2 |
47463048 |
frameshift variant |
C/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|