rs1131690789
|
|
2
|
1.000 |
|
X |
47181316 |
frameshift variant
|
AG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1281877795
|
|
2
|
1.000 |
|
2 |
55249467 |
frameshift variant
|
CTTTTTTCACT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553535063
|
|
1
|
|
|
2 |
201085517 |
frameshift variant
|
T/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553878198
|
|
2
|
1.000 |
|
4 |
26406245 |
missense variant
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555605893
|
|
1
|
|
|
17 |
40637502 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555918056
|
|
1
|
|
|
X |
40072918 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1557189252
|
|
2
|
1.000 |
|
X |
54465532 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1563183469
|
|
3
|
0.925 |
0.120 |
7 |
70766245 |
missense variant
|
A/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs779617179
|
|
1
|
|
|
2 |
205763747 |
frameshift variant
|
T/-
|
del |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1318353774
|
|
2
|
1.000 |
|
19 |
13298827 |
stop gained
|
G/A;C
|
snv |
|
|
0.700 |
1.000 |
46 |
1988 |
2017 |
rs147001633
|
|
15
|
0.776 |
0.240 |
2 |
25234373 |
missense variant
|
C/A;G;T
|
snv |
4.0E-06;
4.0E-06;
2.2E-04
|
|
0.700 |
1.000 |
36 |
1989 |
2018 |
rs137854562
|
|
4
|
0.925 |
0.120 |
17 |
31235623 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
34 |
1967 |
2017 |
rs1555533842
|
|
3
|
1.000 |
|
17 |
31330303 |
frameshift variant
|
-/C
|
delins |
|
|
0.700 |
1.000 |
34 |
1967 |
2017 |
rs1554698878
|
|
4
|
0.925 |
|
9 |
83971976 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
30 |
1996 |
2018 |
rs797044870
|
|
3
|
0.925 |
|
1 |
22086456 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
30 |
1993 |
2015 |
rs113001196
|
|
5
|
0.882 |
0.160 |
15 |
48432947 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
29 |
1986 |
2016 |
rs387906623
|
|
4
|
0.882 |
0.120 |
15 |
48460258 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
29 |
1986 |
2016 |
rs1555899177
|
|
4
|
1.000 |
|
21 |
33554005 |
frameshift variant
|
ACTC/-
|
del |
|
|
0.700 |
1.000 |
28 |
1988 |
2016 |
rs1555899379
|
|
2
|
1.000 |
|
21 |
33554726 |
stop gained
|
CTG/-
|
del |
|
|
0.700 |
1.000 |
28 |
1988 |
2016 |
rs1555859593
|
|
3
|
1.000 |
|
19 |
41970483 |
missense variant
|
G/T
|
snv |
|
|
0.700 |
1.000 |
27 |
1988 |
2017 |
rs121918490
|
|
6
|
0.851 |
0.080 |
10 |
121517342 |
missense variant
|
G/C
|
snv |
|
|
0.700 |
1.000 |
26 |
1985 |
2017 |
rs1554928978
|
|
2
|
1.000 |
|
10 |
121517425 |
splice acceptor variant
|
CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/-
|
delins |
|
|
0.700 |
1.000 |
26 |
1985 |
2017 |
rs797044885
|
|
4
|
0.925 |
|
1 |
244055156 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
26 |
1997 |
2017 |
rs797044953
|
|
3
|
1.000 |
|
3 |
9447684 |
splice acceptor variant
|
A/T
|
snv |
|
|
0.700 |
1.000 |
26 |
1995 |
2018 |
rs1553521389
|
|
3
|
1.000 |
|
2 |
224503679 |
frameshift variant
|
AG/-
|
delins |
|
|
0.700 |
1.000 |
25 |
1986 |
2016 |