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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs267607760
|
0.925 |
0.160 |
3 |
37008908 |
splice region variant |
A/G
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs267607768
|
0.851 |
0.240 |
3 |
37011867 |
splice region variant |
G/A;C
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs267607853
|
0.925 |
0.160 |
3 |
37042332 |
splice donor variant |
G/A;C;T
|
snv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs34213726
|
1.000 |
0.080 |
3 |
37025925 |
missense variant |
A/C
|
snv
|
|
7.0E-06
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs35502531
|
0.827 |
0.160 |
3 |
37047639 |
missense variant |
AA/GC
|
mnv
|
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs41285097
|
0.925 |
0.160 |
3 |
36993506 |
5 prime UTR variant |
C/G;T
|
snv
|
4.4E-05
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs4986984
|
0.882 |
0.080 |
3 |
37012071 |
missense variant |
C/A;T
|
snv
|
3.7E-04
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs55907433
|
0.925 |
0.120 |
3 |
37048583 |
missense variant |
A/G;T
|
snv
|
1.1E-03;
4.0E-06
|
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|
rs587778920
|
1.000 |
0.080 |
3 |
37028872 |
inframe deletion |
CAT/-
|
delins
|
|
1.4E-05
|
Hereditary Non-Polyposis Colon Cancer Type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
0.700 |
|
0 |
|
|