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 |
|
|
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 |
|
|
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 |
|
|
rs140195825
|
1.000 |
0.080 |
3 |
37050634 |
missense variant |
A/G
|
snv
|
7.6E-05
|
3.5E-05
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
20 |
1996 |
2012 |
rs143009528
|
0.925 |
0.120 |
3 |
37025734 |
missense variant |
A/C;G;T
|
snv
|
3.2E-05;
4.8E-05;
8.0E-06
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
35 |
1996 |
2017 |
rs1553641273
|
1.000 |
0.080 |
3 |
37004418 |
frameshift variant |
C/-
|
delins
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1553644123
|
1.000 |
0.080 |
3 |
37012011 |
stop gained |
C/T
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1553647894
|
0.882 |
0.200 |
3 |
37020309 |
splice acceptor variant |
G/A;C
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1553658104
|
1.000 |
0.080 |
3 |
37040257 |
frameshift variant |
-/A
|
delins
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1559524405
|
0.925 |
0.160 |
3 |
37008874 |
stop gained |
G/T
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1559553492
|
0.925 |
0.160 |
3 |
37025875 |
frameshift variant |
-/TG
|
delins
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1559554339
|
0.925 |
0.160 |
3 |
37025985 |
stop gained |
G/T
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1559558071
|
0.925 |
0.160 |
3 |
37028782 |
splice acceptor variant |
AG/CC
|
mnv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs1559588540
|
0.925 |
0.160 |
3 |
37047651 |
frameshift variant |
C/-
|
del
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs193922370
|
0.925 |
0.160 |
3 |
37008813 |
splice acceptor variant |
G/A;C;T
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
2 |
2003 |
2015 |
rs202038499
|
1.000 |
0.080 |
3 |
37025977 |
missense variant |
A/C
|
snv
|
1.6E-04
|
7.0E-05
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
20 |
1996 |
2012 |
rs2020873
|
1.000 |
0.080 |
3 |
37050534 |
missense variant |
C/T
|
snv
|
5.6E-03
|
2.3E-02
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
20 |
1996 |
2012 |
rs267607706
|
0.882 |
0.160 |
3 |
36993661 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
20 |
1996 |
2012 |
rs267607709
|
0.925 |
0.160 |
3 |
36993664 |
splice donor variant |
G/A;T
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs267607720
|
0.851 |
0.240 |
3 |
37000952 |
splice region variant |
C/G;T
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs267607727
|
0.925 |
0.160 |
3 |
37001049 |
splice donor variant |
G/A;T
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
20 |
1996 |
2012 |
rs267607735
|
0.851 |
0.240 |
3 |
37001058 |
splice region variant |
G/A
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs267607750
|
0.925 |
0.160 |
3 |
37007064 |
splice donor variant |
G/C;T
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
1.000 |
4 |
2008 |
2015 |