rs886041166
|
|
3
|
1.000 |
|
8 |
60742366 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
20 |
1999 |
2016 |
rs121917995
|
|
1
|
|
|
2 |
165992368 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
19 |
1997 |
2014 |
rs1553540213
|
|
1
|
|
|
2 |
166036185 |
frameshift variant
|
C/-
|
del |
|
|
0.700 |
1.000 |
19 |
1997 |
2014 |
rs1555911098
|
|
1
|
|
|
22 |
41168719 |
splice acceptor variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
19 |
1963 |
2016 |
rs1557137745
|
|
2
|
|
|
X |
154032272 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
19 |
1993 |
2016 |
rs61750240
|
|
19
|
0.752 |
0.240 |
X |
154031020 |
stop gained
|
G/A;C
|
snv |
5.5E-06
|
|
0.700 |
1.000 |
19 |
1993 |
2016 |
rs1064795935
|
|
3
|
1.000 |
|
13 |
110181389 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
18 |
1984 |
2015 |
rs1554122252
|
|
3
|
1.000 |
|
6 |
33443341 |
frameshift variant
|
CT/-
|
delins |
|
|
0.700 |
1.000 |
18 |
2004 |
2017 |
rs1554122458
|
|
2
|
|
|
6 |
33444450 |
frameshift variant
|
-/A
|
delins |
|
|
0.700 |
1.000 |
18 |
2004 |
2017 |
rs1555302735
|
|
1
|
|
|
13 |
110173899 |
splice donor variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
18 |
1984 |
2015 |
rs1555303010
|
|
2
|
|
|
13 |
110176450 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
18 |
1984 |
2015 |
rs1554129039
|
|
3
|
1.000 |
|
5 |
140114334 |
frameshift variant
|
A/-
|
del |
|
|
0.700 |
1.000 |
17 |
1991 |
2018 |
rs1554129113
|
|
2
|
|
|
5 |
140114873 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
1.000 |
17 |
1991 |
2018 |
rs1057519430
|
|
5
|
0.925 |
|
X |
41346946 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
16 |
1989 |
2017 |
rs1131691608
|
|
2
|
1.000 |
|
X |
41346503 |
splice acceptor variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
16 |
1989 |
2017 |
rs138659167
|
|
20
|
0.807 |
0.320 |
11 |
71435840 |
splice acceptor variant
|
C/A;G
|
snv |
5.6E-05;
3.9E-03
|
|
0.700 |
1.000 |
16 |
1994 |
2013 |
rs1554100923
|
|
2
|
|
|
5 |
162149212 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
1.000 |
16 |
2001 |
2018 |
rs1555243099
|
|
2
|
1.000 |
|
12 |
115982526 |
missense variant
|
A/T
|
snv |
|
|
0.700 |
1.000 |
16 |
1971 |
2018 |
rs1555247853
|
|
2
|
1.000 |
|
12 |
116008553 |
frameshift variant
|
CCC/TGTTCGAG
|
delins |
|
|
0.700 |
1.000 |
16 |
1971 |
2018 |
rs1555952710
|
|
2
|
1.000 |
|
X |
41341617 |
splice donor variant
|
G/C
|
snv |
|
|
0.700 |
1.000 |
16 |
1989 |
2017 |
rs387906702
|
|
16
|
0.807 |
0.200 |
X |
53403635 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
16 |
1995 |
2017 |
rs1553637932
|
|
1
|
|
|
2 |
240783109 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
15 |
2011 |
2018 |
rs1553638309
|
|
1
|
|
|
2 |
240785068 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
15 |
2011 |
2018 |
rs879253888
|
|
5
|
0.851 |
0.120 |
2 |
240783777 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
15 |
2011 |
2018 |
rs118161496
|
|
2
|
1.000 |
0.040 |
14 |
31850092 |
non coding transcript exon variant
|
T/C
|
snv |
3.4E-03
|
3.4E-03
|
0.700 |
1.000 |
14 |
1999 |
2013 |