rs121434629
|
0.763 |
0.320 |
7 |
6005918 |
missense variant |
C/A;T
|
snv
|
1.6E-04;
8.1E-06
|
|
Turcot syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs1057515571
|
1.000 |
0.160 |
7 |
5995591 |
frameshift variant |
C/-
|
delins
|
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1057515572
|
0.882 |
0.200 |
7 |
5987033 |
frameshift variant |
GC/ACT
|
delins
|
|
|
Turcot syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517801
|
|
|
7 |
5987022 |
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 |
|
0 |
|
|
rs1057517801
|
|
|
7 |
5987022 |
frameshift variant |
T/-
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1057524433
|
|
|
7 |
5982858 |
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 |
|
0 |
|
|
rs1060503137
|
|
|
7 |
5986900 |
frameshift variant |
TA/-
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1060503138
|
|
|
7 |
5986874 |
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 |
|
0 |
|
|
rs1060503142
|
|
|
7 |
5987417 |
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 |
|
0 |
|
|
rs1060503148
|
|
|
7 |
6005926 |
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 |
|
0 |
|
|
rs1064793234
|
|
|
7 |
5987185 |
frameshift variant |
CT/-
|
del
|
4.0E-06
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1064793868
|
|
|
7 |
6002452 |
splice donor variant |
C/-
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1064794083
|
|
|
7 |
6003974 |
stop gained |
A/C
|
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 |
|
0 |
|
|
rs1064794173
|
|
|
7 |
6005913 |
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 |
|
|
rs1064794566
|
1.000 |
0.160 |
7 |
5986795 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1064794577
|
1.000 |
0.160 |
7 |
5987294 |
stop gained |
C/A;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 |
|
0 |
|
|
rs1064794577
|
1.000 |
0.160 |
7 |
5987294 |
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 |
|
0 |
|
|
rs1064794577
|
1.000 |
0.160 |
7 |
5987294 |
stop gained |
C/A;T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1064795447
|
|
|
7 |
5999122 |
frameshift variant |
CA/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1064795705
|
|
|
7 |
6005891 |
splice donor variant |
C/T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1064796190
|
|
|
7 |
5999158 |
stop gained |
C/A
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs113517055
|
|
|
7 |
6003689 |
splice donor variant |
C/A;T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs113517055
|
|
|
7 |
6003689 |
splice donor variant |
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 |
|
0 |
|
|
rs116373169
|
|
|
7 |
6002607 |
stop gained |
G/A;T
|
snv
|
5.1E-04
|
1.7E-03
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|