rs104894790
|
|
2
|
0.925 |
0.160 |
X |
31178751 |
stop gained
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs10880
|
|
2
|
0.925 |
0.160 |
19 |
40622404 |
missense variant
|
C/T
|
snv |
0.38
|
0.39
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs112735431
|
|
24
|
0.683 |
0.320 |
17 |
80385145 |
missense variant
|
G/A;C
|
snv |
2.6E-04;
8.0E-06
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs1815739
|
|
17
|
0.763 |
0.240 |
11 |
66560624 |
stop gained
|
C/T
|
snv |
|
0.37
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs56149945
|
|
49
|
0.595 |
0.680 |
5 |
143399752 |
missense variant
|
T/A;C
|
snv |
2.0E-02
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs28357094
|
|
3
|
0.882 |
0.160 |
4 |
87975645 |
non coding transcript exon variant
|
T/G
|
snv |
|
0.17
|
0.050 |
1.000 |
5 |
2012 |
2017 |
rs398123942
|
|
1
|
1.000 |
0.120 |
X |
32454685 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
7 |
2008 |
2018 |
rs1556503937
|
|
1
|
1.000 |
0.120 |
X |
31323639 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
5 |
1999 |
2017 |
rs1556806356
|
|
1
|
1.000 |
0.120 |
X |
31679588 |
splice acceptor variant
|
T/C
|
snv |
|
|
0.700 |
1.000 |
5 |
2006 |
2015 |
rs373286166
|
|
3
|
0.882 |
0.160 |
X |
32573529 |
splice donor variant
|
C/T
|
snv |
1.6E-05
|
2.8E-05
|
0.700 |
1.000 |
5 |
2007 |
2016 |
rs1556040444
|
|
1
|
1.000 |
0.120 |
X |
31180482 |
splice acceptor variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
4 |
2006 |
2017 |
rs1385794215
|
|
1
|
1.000 |
0.120 |
X |
31147289 |
stop gained
|
G/A;T
|
snv |
5.5E-06
|
|
0.700 |
1.000 |
3 |
1998 |
2011 |
rs1556802319
|
|
1
|
1.000 |
0.120 |
X |
32565701 |
splice donor variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
3 |
2006 |
2014 |
rs1556875224
|
|
1
|
1.000 |
0.120 |
X |
32644171 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
3 |
2007 |
2011 |
rs1557374667
|
|
1
|
1.000 |
0.120 |
X |
32472310 |
splice acceptor variant
|
C/-
|
del |
|
|
0.700 |
1.000 |
3 |
2006 |
2017 |
rs398122853
|
|
3
|
0.882 |
0.160 |
X |
33211304 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
3 |
2009 |
2017 |
rs398123827
|
|
1
|
1.000 |
0.120 |
X |
31180423 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
3 |
2000 |
2013 |
rs398124040
|
|
2
|
0.925 |
0.160 |
X |
31875300 |
frameshift variant
|
T/-;TT
|
delins |
|
|
0.700 |
1.000 |
3 |
1990 |
2016 |
rs398124099
|
|
1
|
1.000 |
0.120 |
X |
32650983 |
intron variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
3 |
2004 |
2010 |
rs794726993
|
|
3
|
0.882 |
0.160 |
X |
32645020 |
stop gained
|
G/A;C
|
snv |
|
|
0.700 |
1.000 |
3 |
2009 |
2017 |
rs1055371114
|
|
1
|
1.000 |
0.120 |
X |
32484946 |
stop gained
|
G/A;T
|
snv |
2.2E-05
|
|
0.700 |
1.000 |
2 |
1997 |
2010 |
rs1556035817
|
|
1
|
1.000 |
0.120 |
X |
31177964 |
splice acceptor variant
|
ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/-
|
delins |
|
|
0.700 |
1.000 |
2 |
2006 |
2014 |
rs1557303544
|
|
1
|
1.000 |
0.120 |
X |
32362847 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
2 |
2005 |
2006 |
rs1557380685
|
|
1
|
1.000 |
0.120 |
X |
32485084 |
frameshift variant
|
G/-
|
del |
|
|
0.700 |
1.000 |
2 |
2007 |
2011 |
rs398123852
|
|
1
|
1.000 |
0.120 |
X |
32644202 |
stop gained
|
G/A;C
|
snv |
5.5E-06
|
|
0.700 |
1.000 |
2 |
2006 |
2008 |