rs104894360
|
|
14
|
0.724 |
0.560 |
12 |
25209904 |
missense variant
|
T/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1131691003
|
|
12
|
0.752 |
0.360 |
17 |
7676381 |
splice donor variant
|
C/A;G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1131691042
|
|
12
|
0.752 |
0.360 |
17 |
7675052 |
splice donor variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs11540652
|
|
57
|
0.592 |
0.640 |
17 |
7674220 |
missense variant
|
C/A;G;T
|
snv |
1.2E-05
|
|
0.700 |
|
0 |
|
|
rs121912576
|
|
1
|
1.000 |
0.120 |
18 |
51065539 |
stop gained
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121912577
|
|
2
|
0.925 |
0.160 |
18 |
51067115 |
stop gained
|
C/G;T
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs121912578
|
|
1
|
1.000 |
0.120 |
18 |
51078285 |
missense variant
|
G/C
|
snv |
|
|
0.800 |
|
0 |
|
|
rs121912579
|
|
1
|
1.000 |
0.120 |
18 |
51078351 |
stop gained
|
A/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121912661
|
|
1
|
1.000 |
0.120 |
17 |
7676264 |
missense variant
|
C/A;G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs137853079
|
|
2
|
1.000 |
0.120 |
19 |
1207021 |
stop gained
|
C/A;G;T
|
snv |
1.6E-05
|
|
0.700 |
|
0 |
|
|
rs1555162597
|
|
1
|
1.000 |
0.120 |
12 |
51991357 |
splice acceptor variant
|
ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGCGGCT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs200027650
|
|
1
|
1.000 |
0.120 |
12 |
109904025 |
missense variant
|
G/A
|
snv |
2.5E-04
|
1.4E-04
|
0.700 |
|
0 |
|
|
rs281875322
|
|
6
|
0.807 |
0.480 |
18 |
51078306 |
missense variant
|
A/G
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs28934576
|
|
78
|
0.554 |
0.600 |
17 |
7673802 |
missense variant
|
C/A;G;T
|
snv |
4.0E-06;
1.6E-05
|
|
0.700 |
|
0 |
|
|
rs28934578
|
|
47
|
0.605 |
0.600 |
17 |
7675088 |
missense variant
|
C/A;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs372266620
|
|
2
|
0.925 |
0.120 |
9 |
21971189 |
missense variant
|
G/A;C;T
|
snv |
9.1E-05;
2.3E-05;
9.1E-06
|
|
0.700 |
|
0 |
|
|
rs377767347
|
|
14
|
0.742 |
0.520 |
18 |
51065549 |
missense variant
|
G/A;C;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs387906389
|
|
1
|
1.000 |
0.120 |
12 |
51986840 |
frameshift variant
|
GATGA/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs397518442
|
|
1
|
1.000 |
0.120 |
19 |
1220630 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs397518443
|
|
2
|
0.925 |
0.200 |
19 |
1222998 |
frameshift variant
|
AA/-;A
|
delins |
|
|
0.700 |
|
0 |
|
|
rs55832599
|
|
18
|
0.716 |
0.360 |
17 |
7673821 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs730881976
|
|
4
|
0.882 |
0.240 |
19 |
1220702 |
stop gained
|
C/A;G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs80338965
|
|
5
|
0.851 |
0.480 |
18 |
51067121 |
frameshift variant
|
CAGA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs375328708
|
|
1
|
1.000 |
0.120 |
19 |
1226602 |
synonymous variant
|
C/G;T
|
snv |
6.7E-05
|
6.3E-05
|
0.010 |
1.000 |
1 |
1999 |
1999 |
rs199769221
|
|
8
|
0.790 |
0.280 |
7 |
142751920 |
missense variant
|
G/A;C;T
|
snv |
8.0E-05;
4.0E-06
|
|
0.010 |
1.000 |
1 |
2000 |
2000 |