rs104894743
|
|
7
|
0.807 |
0.200 |
X |
25012937 |
missense variant
|
G/A
|
snv |
|
|
0.800 |
1.000 |
3 |
2002 |
2017 |
rs387906492
|
|
3
|
0.882 |
0.160 |
X |
25013660 |
inframe insertion
|
CGCCGCCGCCGCCGCCGC/-;CGC;CGCCGC;CGCCGCCGC;CGCCGCCGCCGC;CGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC
|
delins |
|
|
0.700 |
1.000 |
8 |
2002 |
2015 |
rs398124510
|
|
3
|
0.882 |
0.160 |
X |
25013531 |
inframe insertion
|
GCGGCCGCGGCTGCCGCGGCGGCC/-;GCGGCCGCGGCTGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCC
|
delins |
|
6.8E-04
|
0.700 |
1.000 |
8 |
2002 |
2015 |
rs387906493
|
|
3
|
0.882 |
0.120 |
X |
25013544 |
inframe insertion
|
GGCCGCGGCTGCCGCGGCGGCCCC/-;GGCCGCGGCTGCCGCGGCGGCCCCGGCCGCGGCTGCCGCGGCGGCCCC
|
delins |
|
|
0.700 |
1.000 |
5 |
2006 |
2015 |
rs398122965
|
|
13
|
0.807 |
0.280 |
16 |
2496872 |
missense variant
|
C/T
|
snv |
1.2E-05
|
2.8E-05
|
0.700 |
1.000 |
2 |
2014 |
2016 |
rs747538224
|
|
3
|
0.925 |
0.040 |
16 |
2496993 |
missense variant
|
C/G
|
snv |
1.8E-04
|
2.1E-05
|
0.700 |
1.000 |
2 |
2016 |
2017 |
rs118192197
|
|
1
|
1.000 |
0.040 |
20 |
63444756 |
stop gained
|
CGGAGCGCAG/T
|
delins |
|
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs587777248
|
|
3
|
0.882 |
0.040 |
16 |
78108475 |
stop gained
|
C/A;T
|
snv |
1.6E-05;
8.0E-06
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs104894746
|
|
2
|
0.925 |
0.160 |
X |
25010274 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057524191
|
|
3
|
0.925 |
0.040 |
16 |
2496269 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1060502727
|
|
2
|
0.925 |
0.040 |
16 |
78115155 |
splice donor variant
|
G/C;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1365611175
|
|
1
|
1.000 |
0.040 |
X |
25013654 |
inframe insertion
|
CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC/-;CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC
|
delins |
|
9.9E-06
|
0.700 |
|
0 |
|
|
rs1555501140
|
|
3
|
0.925 |
0.040 |
16 |
2496319 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1556054888
|
|
1
|
1.000 |
0.040 |
X |
25012956 |
missense variant
|
A/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1556056125
|
|
1
|
1.000 |
0.040 |
X |
25013533 |
inframe insertion
|
-/GGCCGCGGCCGCGGCTGCCGCGGCGGC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1556056154
|
|
2
|
0.925 |
0.080 |
X |
25013536 |
inframe insertion
|
-/GCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1567413218
|
|
3
|
0.925 |
0.040 |
16 |
2498385 |
stop gained
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1567542020
|
|
2
|
0.925 |
0.040 |
16 |
78386926 |
stop gained
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569075471
|
|
1
|
1.000 |
0.040 |
21 |
32673466 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569077009
|
|
1
|
1.000 |
0.040 |
22 |
38298785 |
splice donor variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs201008667
|
|
2
|
0.925 |
0.040 |
16 |
78109819 |
stop gained
|
C/G;T
|
snv |
3.2E-05;
3.6E-05
|
|
0.700 |
|
0 |
|
|
rs387906715
|
|
1
|
1.000 |
0.040 |
X |
25004755 |
missense variant
|
A/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs398122854
|
|
3
|
0.882 |
0.040 |
X |
25015657 |
stop gained
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs398122967
|
|
12
|
0.827 |
0.280 |
16 |
2498262 |
frameshift variant
|
T/-
|
del |
7.4E-05
|
4.9E-05
|
0.700 |
|
0 |
|
|
rs587783191
|
|
2
|
0.925 |
0.160 |
X |
25004894 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|