rs1563686762
|
|
16
|
0.790 |
0.280 |
8 |
116847620 |
inframe deletion
|
GTT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs875989800
|
|
33
|
0.732 |
0.480 |
22 |
23833670 |
inframe deletion
|
AGA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs369160589
|
|
35
|
0.742 |
0.400 |
16 |
5082676 |
splice region variant
|
A/G
|
snv |
1.0E-04
|
1.3E-04
|
0.700 |
|
0 |
|
|
rs1352010373
|
|
73
|
0.641 |
0.560 |
17 |
75489265 |
splice acceptor variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057518345
|
|
25
|
0.742 |
0.400 |
20 |
50894172 |
frameshift variant
|
ACTA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1163944538
|
|
73
|
0.641 |
0.560 |
17 |
75494905 |
frameshift variant
|
-/A
|
delins |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1553920379
|
|
27
|
0.776 |
0.160 |
4 |
101032294 |
frameshift variant
|
-/AGTA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555640521
|
|
15
|
0.790 |
0.320 |
18 |
6942110 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1562114190
|
|
21
|
0.790 |
0.160 |
6 |
78946061 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1562127631
|
|
24
|
0.742 |
0.360 |
6 |
78961751 |
frameshift variant
|
C/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1562150844
|
|
14
|
0.790 |
0.280 |
6 |
78982908 |
frameshift variant
|
CTTT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1562203136
|
|
9
|
0.882 |
0.120 |
6 |
79042902 |
frameshift variant
|
-/T
|
ins |
|
|
0.700 |
|
0 |
|
|
rs1569324457
|
|
7
|
0.851 |
0.280 |
20 |
32433481 |
frameshift variant
|
AG/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs771237928
|
|
14
|
0.752 |
0.280 |
1 |
119915813 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
|
44
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant
|
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs559979281
|
|
23
|
0.742 |
0.440 |
2 |
121530892 |
non coding transcript exon variant
|
C/G;T
|
snv |
7.7E-06;
2.3E-05;
3.5E-04
|
|
0.700 |
|
0 |
|
|
rs863225422
|
|
23
|
0.742 |
0.440 |
2 |
121530927 |
non coding transcript exon variant
|
G/A
|
snv |
4.6E-05;
7.7E-06
|
4.9E-05
|
0.700 |
|
0 |
|
|
rs1057524157
|
|
19
|
0.776 |
0.200 |
11 |
686962 |
missense variant
|
A/C;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2017 |
2017 |
rs1057519565
|
|
9
|
0.851 |
0.200 |
11 |
687941 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs151344517
|
|
31
|
0.742 |
0.320 |
18 |
12337505 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1557043622
|
|
46
|
0.695 |
0.400 |
X |
48909843 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1009298200
|
|
34
|
0.742 |
0.400 |
16 |
5079077 |
missense variant
|
C/G;T
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1057518914
|
|
14
|
0.790 |
0.160 |
X |
20193547 |
missense variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1060505041
|
|
34
|
0.716 |
0.400 |
19 |
13136099 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|