rs1553605805
|
|
1.000 |
0.160 |
3 |
14158589 |
frameshift variant
|
-/A
|
ins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1553605813
|
|
1.000 |
0.160 |
3 |
14158590 |
frameshift variant
|
TTTAT/-
|
del
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1553605871
|
|
1.000 |
0.160 |
3 |
14158739 |
frameshift variant
|
-/G
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1553605894
|
|
1.000 |
0.160 |
3 |
14158894 |
splice acceptor variant
|
T/C
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1553605973
|
|
1.000 |
0.160 |
3 |
14159815 |
frameshift variant
|
-/A
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1553606979
|
|
1.000 |
0.160 |
3 |
14167171 |
frameshift variant
|
GT/-
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1553607144
|
|
1.000 |
0.160 |
3 |
14168277 |
frameshift variant
|
-/T
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1553607419
|
|
1.000 |
0.160 |
3 |
14170482 |
frameshift variant
|
T/-
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1553607744
|
|
1.000 |
0.160 |
3 |
14172866 |
splice donor variant
|
C/T
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1553607773
|
|
1.000 |
0.160 |
3 |
14173019 |
frameshift variant
|
G/-
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1559374923
|
|
1.000 |
0.160 |
3 |
14158010 |
splice donor variant
|
C/G
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs752030576
|
|
1.000 |
0.160 |
3 |
14158132 |
frameshift variant
|
CT/-
|
delins
|
8.0E-06
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs754197041
|
|
1.000 |
0.160 |
3 |
14158502 |
stop gained
|
C/A;T
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs764480429
|
|
1.000 |
0.160 |
3 |
14156334 |
splice donor variant
|
C/T
|
snv
|
4.0E-06
|
2.1E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs794729655
|
|
1.000 |
0.160 |
3 |
14156333 |
splice donor variant
|
A/C
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs794729656
|
|
1.000 |
0.160 |
3 |
14168389 |
intron variant
|
A/G;T
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs794729657
|
|
1.000 |
0.160 |
3 |
14168404 |
intron variant
|
T/C;G
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs867461743
|
|
1.000 |
0.160 |
3 |
14159773 |
stop gained
|
G/A
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs754775337
|
|
1.000 |
0.160 |
3 |
14148912 |
stop gained
|
G/A
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
3 |
2000 |
2015 |
rs1553604559
|
|
1.000 |
0.160 |
3 |
14148695 |
frameshift variant
|
G/-
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
1.000 |
2 |
2010 |
2015 |
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 |
rs1281090187
|
|
1.000 |
0.160 |
3 |
14148665 |
stop gained
|
G/A
|
snv
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1309116467
|
|
1.000 |
0.160 |
3 |
14148869 |
frameshift variant
|
-/G
|
delins
|
|
2.1E-05
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1553604549
|
|
1.000 |
0.160 |
3 |
14148645 |
frameshift variant
|
-/A
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|
rs1553604552
|
|
1.000 |
0.160 |
3 |
14148650 |
frameshift variant
|
-/G
|
delins
|
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
|
0.700 |
|
0 |
|
|