rs587782326
|
|
|
|
2 |
47806628 |
frameshift variant
|
-/A
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
6 |
2003 |
2015 |
rs1553333497
|
|
|
|
2 |
47806526 |
frameshift variant
|
TGTCCTAAAAGCT/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
5 |
2005 |
2013 |
rs1553333605
|
|
|
|
2 |
47806576 |
frameshift variant
|
-/GAGA
|
ins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
5 |
2005 |
2013 |
rs1558394336
|
|
|
|
2 |
47806602 |
frameshift variant
|
AAGCAAGAGAATTTGAGAA/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
5 |
2003 |
2011 |
rs587779285
|
|
|
|
2 |
47806281 |
missense variant
|
C/A;G;T
|
snv
|
4.0E-06
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
5 |
2007 |
2014 |
rs587782386
|
|
|
|
2 |
47800909 |
missense variant
|
C/T
|
snv
|
|
7.0E-06
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
5 |
2002 |
2015 |
rs63750647
|
|
|
|
2 |
47800283 |
inframe deletion
|
CCT/-
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
5 |
2007 |
2014 |
rs878853742
|
|
|
|
2 |
47806579 |
frameshift variant
|
-/GGAAGTTATTCAAAAGGGACATAGAAAAGCAAGAGAATTTG
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
5 |
2003 |
2011 |
rs1558394093
|
|
|
|
2 |
47806580 |
frameshift variant
|
G/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
4 |
1998 |
2011 |
rs587779220
|
|
|
|
2 |
47799737 |
missense variant
|
T/C
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
4 |
2007 |
2015 |
rs63751427
|
|
|
|
2 |
47804953 |
inframe deletion
|
CTG/-;CTGCTG
|
delins
|
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
4 |
2003 |
2012 |
rs863225412
|
|
|
|
2 |
47806297 |
frameshift variant
|
CTACCATTCATTAGTAGAAGATTATTCTCA/-
|
delins
|
|
7.0E-06
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
4 |
2007 |
2012 |
rs1060502926
|
|
|
|
2 |
47805028 |
splice donor variant
|
G/A;C
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
3 |
2008 |
2015 |
rs1114167767
|
|
|
|
2 |
47804948 |
frameshift variant
|
C/-
|
del
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
3 |
2011 |
2016 |
rs1553331242
|
|
|
|
2 |
47803418 |
splice acceptor variant
|
A/C;T
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
3 |
2008 |
2014 |
rs1553333175
|
|
|
|
2 |
47806355 |
splice donor variant
|
GTATG/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
3 |
2008 |
2015 |
rs1553335247
|
|
1.000 |
|
2 |
47809195 |
missense variant
|
A/G
|
snv
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
|
0.800 |
1.000 |
3 |
2017 |
2018 |
rs1553338592
|
|
1.000 |
|
2 |
47823147 |
missense variant
|
T/C
|
snv
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
|
0.800 |
1.000 |
3 |
2017 |
2018 |
rs1553342109
|
|
1.000 |
|
2 |
47839447 |
missense variant
|
T/A
|
snv
|
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
|
0.800 |
1.000 |
3 |
2017 |
2018 |
rs587781372
|
|
|
|
2 |
47800915 |
stop gained
|
C/G;T
|
snv
|
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
3 |
2013 |
2014 |
rs1114167723
|
|
|
|
2 |
47805617 |
splice acceptor variant
|
G/C;T
|
snv
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
2 |
2008 |
2014 |
rs1114167725
|
|
|
|
2 |
47798609 |
splice acceptor variant
|
A/G
|
snv
|
|
7.0E-06
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
2 |
2008 |
2014 |
rs1114167767
|
|
|
|
2 |
47804948 |
frameshift variant
|
C/-
|
del
|
|
|
Neoplastic Syndromes, Hereditary
|
0.700 |
1.000 |
2 |
2012 |
2016 |
rs1553332768
|
|
|
|
2 |
47805706 |
splice donor variant
|
-/G
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
2 |
2008 |
2014 |
rs1553333674
|
|
|
|
2 |
47806591 |
frameshift variant
|
GGACATAGAAAAG/-
|
delins
|
|
|
Hereditary Nonpolyposis Colorectal Neoplasms
|
0.700 |
1.000 |
2 |
2010 |
2011 |