rs1057517543
|
1.000 |
0.080 |
3 |
37000954 |
splice region variant |
AAGAAGATCTGGA/-
|
delins
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1057517617
|
1.000 |
0.080 |
3 |
37026007 |
splice donor variant |
GTATGG/-
|
delins
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1060500687
|
|
|
3 |
37047639 |
frameshift variant |
AA/A;AAA;G
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1060500688
|
|
|
3 |
37001014 |
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 |
|
0 |
|
|
rs1060500689
|
|
|
3 |
37007000 |
stop gained |
C/G;T
|
snv
|
4.0E-06
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1060500692
|
|
|
3 |
37025668 |
frameshift variant |
GAGATGG/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1060500699
|
|
|
3 |
37025702 |
frameshift variant |
-/T
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1060500702
|
1.000 |
0.160 |
3 |
37007050 |
missense variant |
G/A;C
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1060500703
|
|
|
3 |
37025639 |
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 |
|
|
rs1060500706
|
|
|
3 |
37050517 |
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 |
|
0 |
|
|
rs1060500707
|
|
|
3 |
37025644 |
stop gained |
-/A
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1064794331
|
|
|
3 |
37048557 |
frameshift variant |
-/TGTGCCCC
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1064795341
|
|
|
3 |
36993553 |
frameshift variant |
CGTGGCAGGGGTT/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1064795441
|
1.000 |
0.080 |
3 |
37001028 |
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 |
|
|
rs1064795441
|
1.000 |
0.080 |
3 |
37001028 |
frameshift variant |
T/-
|
delins
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1064795515
|
|
|
3 |
37025998 |
frameshift variant |
G/-
|
del
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1064795693
|
|
|
3 |
36996690 |
missense variant |
A/G
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1064796057
|
|
|
3 |
37011825 |
stop gained |
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 |
|
0 |
|
|
rs111052004
|
0.925 |
0.160 |
3 |
36993549 |
start lost |
T/A;C;G
|
snv
|
4.0E-06;
4.0E-06
|
|
Colorectal cancer, hereditary nonpolyposis, type 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs111052004
|
0.925 |
0.160 |
3 |
36993549 |
start lost |
T/A;C;G
|
snv
|
4.0E-06;
4.0E-06
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1114167435
|
1.000 |
0.080 |
3 |
37025932 |
frameshift variant |
AG/-
|
delins
|
|
|
Malignant tumor of colon
|
Digestive System Diseases; Neoplasms
|
0.700 |
|
0 |
|
|
rs11541859
|
1.000 |
0.160 |
3 |
37001012 |
stop gained |
G/T
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs121912965
|
0.882 |
0.200 |
3 |
36993651 |
missense variant |
TG/AC
|
mnv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs121912965
|
0.882 |
0.200 |
3 |
36993651 |
missense variant |
TG/AC
|
mnv
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1248251121
|
|
|
3 |
37008892 |
stop gained |
G/A;C;T
|
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 |
|
0 |
|
|