rs1057517541
|
0.925 |
0.160 |
3 |
37025817 |
stop gained |
C/T
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057517541
|
0.925 |
0.160 |
3 |
37025817 |
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 |
2016 |
2016 |
rs1057517541
|
0.925 |
0.160 |
3 |
37025817 |
stop gained |
C/T
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
1 |
2015 |
2015 |
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 |
|
|
rs1060500698
|
|
|
3 |
37050639 |
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 |
4 |
2003 |
2012 |
rs1060500699
|
|
|
3 |
37025702 |
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 |
3 |
2015 |
2017 |
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 |
|
|
rs1060504000
|
0.925 |
0.160 |
3 |
37025666 |
missense variant |
T/C
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1060504000
|
0.925 |
0.160 |
3 |
37025666 |
missense variant |
T/C
|
snv
|
|
|
Lynch Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1064793400
|
1.000 |
0.040 |
3 |
37048550 |
missense variant |
G/A
|
snv
|
|
|
Squamous cell carcinoma
|
Neoplasms
|
0.010 |
1.000 |
1 |
2015 |
2015 |
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 |
|
|