rs121965088
|
|
1.000 |
0.160 |
3 |
14158148 |
stop gained
|
G/A
|
snv
|
1.2E-05
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
4 |
2000 |
2015 |
rs754532049
|
|
0.925 |
0.160 |
3 |
14158239 |
frameshift variant
|
CA/-
|
delins
|
2.0E-05
|
3.5E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
4 |
2008 |
2010 |
rs745679643
|
|
1.000 |
0.160 |
3 |
14165549 |
stop gained
|
G/A
|
snv
|
2.0E-05
|
1.4E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
3 |
2000 |
2015 |
rs752088918
|
|
0.925 |
0.160 |
3 |
14167223 |
frameshift variant
|
AT/-
|
delins
|
2.4E-05
|
2.1E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
3 |
2000 |
2006 |
rs754775337
|
|
1.000 |
0.160 |
3 |
14148912 |
stop gained
|
G/A
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
3 |
2000 |
2015 |
rs757958943
|
|
0.925 |
0.160 |
3 |
14158640 |
stop gained
|
G/A
|
snv
|
1.2E-05
|
4.9E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs1330667099
|
|
1.000 |
0.160 |
3 |
14168370 |
frameshift variant
|
CACT/-
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
2 |
2006 |
2016 |
rs1402162002
|
|
1.000 |
0.160 |
3 |
14168347 |
frameshift variant
|
TC/-
|
delins
|
1.2E-05
|
7.0E-06
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
2 |
2007 |
2016 |
rs1553604559
|
|
1.000 |
0.160 |
3 |
14148695 |
frameshift variant
|
G/-
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
2 |
2010 |
2015 |
rs201940931
|
|
1.000 |
0.160 |
3 |
14165587 |
splice acceptor variant
|
T/C;G
|
snv
|
4.0E-06;
1.2E-05
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
2 |
2006 |
2007 |
rs373519125
|
|
1.000 |
0.160 |
3 |
14164836 |
stop gained
|
G/A;T
|
snv
|
1.6E-05;
1.6E-05
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
2 |
2016 |
2017 |
rs374117852
|
|
0.925 |
0.160 |
3 |
14152376 |
stop gained
|
T/A
|
snv
|
|
3.5E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
2 |
2006 |
2013 |
rs746250060
|
|
1.000 |
0.160 |
3 |
14158319 |
stop gained
|
T/A;C
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
2 |
2006 |
2015 |
rs767569346
|
|
1.000 |
0.160 |
3 |
14158206 |
stop gained
|
G/A;C;T
|
snv
|
1.2E-05;
4.0E-06
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs794729654
|
|
1.000 |
0.160 |
3 |
14158590 |
frameshift variant
|
TT/-
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
2 |
2006 |
2016 |
rs1228981894
|
|
1.000 |
0.160 |
3 |
14170507 |
frameshift variant
|
CT/-
|
delins
|
4.0E-06
|
7.0E-06
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1260189637
|
|
1.000 |
0.160 |
3 |
14173038 |
frameshift variant
|
G/-
|
delins
|
|
1.4E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1450238352
|
|
1.000 |
0.160 |
3 |
14158779 |
frameshift variant
|
TT/-
|
del
|
|
2.1E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1553605761
|
|
1.000 |
0.160 |
3 |
14158461 |
frameshift variant
|
-/T
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs754673606
|
|
0.925 |
0.160 |
3 |
14148732 |
splice acceptor variant
|
C/G;T
|
snv
|
2.4E-05
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs763678756
|
|
1.000 |
0.160 |
3 |
14178568 |
start lost
|
T/A;C
|
snv
|
4.0E-06;
5.2E-05
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs764321665
|
|
1.000 |
0.160 |
3 |
14165468 |
stop gained
|
G/A
|
snv
|
|
1.4E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs975121308
|
|
1.000 |
0.160 |
3 |
14165427 |
splice donor variant
|
C/A;T
|
snv
|
|
7.0E-06
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1208223013
|
|
1.000 |
0.160 |
3 |
14170440 |
frameshift variant
|
-/C
|
delins
|
4.0E-06
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1281090187
|
|
1.000 |
0.160 |
3 |
14148665 |
stop gained
|
G/A
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|