rs1010184002
|
|
60
|
0.689 |
0.400 |
6 |
42978878 |
stop gained
|
C/T
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1057518802
|
|
4
|
0.882 |
0.080 |
21 |
45509554 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057518939
|
|
9
|
1.000 |
0.040 |
8 |
99511424 |
frameshift variant
|
A/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs111733491
|
|
1
|
|
|
2 |
169236027 |
missense variant
|
C/A;G;T
|
snv |
8.0E-06;
3.6E-05
|
|
0.700 |
|
0 |
|
|
rs1189889920
|
|
1
|
|
|
3 |
121790208 |
stop gained
|
G/A
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1196489060
|
|
1
|
|
|
4 |
16018318 |
splice region variant
|
C/T
|
snv |
4.0E-06
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs121918327
|
|
12
|
0.776 |
0.240 |
4 |
122742955 |
stop gained
|
C/T
|
snv |
2.8E-05
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs1356104318
|
|
1
|
|
|
1 |
94098850 |
stop gained
|
G/A;C
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs137852832
|
|
17
|
0.716 |
0.280 |
12 |
88077263 |
stop gained
|
C/A
|
snv |
9.5E-05
|
6.3E-05
|
0.700 |
|
0 |
|
|
rs138504221
|
|
9
|
0.807 |
0.280 |
17 |
80212128 |
missense variant
|
A/G
|
snv |
9.6E-05
|
1.5E-04
|
0.700 |
|
0 |
|
|
rs1435861529
|
|
1
|
|
|
6 |
63762538 |
missense variant
|
C/T
|
snv |
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs143994166
|
|
2
|
1.000 |
0.080 |
6 |
65402507 |
stop gained
|
A/T
|
snv |
6.8E-04
|
6.2E-04
|
0.700 |
|
0 |
|
|
rs149071415
|
|
1
|
|
|
1 |
94047024 |
missense variant
|
A/G
|
snv |
4.0E-05
|
8.4E-05
|
0.700 |
|
0 |
|
|
rs150726175
|
|
11
|
0.776 |
0.200 |
1 |
9982630 |
missense variant
|
G/A
|
snv |
7.0E-04
|
8.5E-04
|
0.700 |
|
0 |
|
|
rs1553193813
|
|
2
|
1.000 |
0.080 |
1 |
94077747 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553249226
|
|
1
|
|
|
1 |
197328605 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553403585
|
|
1
|
|
|
2 |
73449482 |
frameshift variant
|
-/CTATTCTGGACTG
|
ins |
|
|
0.700 |
|
0 |
|
|
rs1553512879
|
|
1
|
|
|
2 |
181544799 |
splice region variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553711564
|
|
1
|
|
|
3 |
121788283 |
splice donor variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554186385
|
|
1
|
|
|
6 |
42178410 |
missense variant
|
A/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554214453
|
|
1
|
|
|
6 |
64886713 |
stop gained
|
A/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554269053
|
|
2
|
1.000 |
0.080 |
6 |
42704529 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554628460
|
|
1
|
|
|
9 |
2717843 |
frameshift variant
|
-/GTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGTCC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1554857529
|
|
1
|
|
|
10 |
84211128 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554998040
|
|
1
|
|
|
11 |
67458613 |
splice acceptor variant
|
TGCCCTTCTCTCCCGCAGAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGGAGAAGACCTGCTCTCAGCTGCCCACCGTTCCTCAGTGTGAGCAAGATTTGGGTCTCTCCAGACCTCTGGGAGGTAGGGAGTTCCCTGGCACTGGCAGCATTCAGTGGGGACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTACTTATGTTTATAATTTTTTTTTTTTTTAATGAACTTGAGCCGGGTGCAGTGGCTCACACCTGTAAGCCCAGCTGTCAGGGGGCAGAAGCGGGAGGATAGCTTGAGCCCAGGAGTGCAAGACCTGCCTGGGCAATATACTGAGACCCCATTCTCCACAAAAAGGAAAAATAAAAGACAAAAAAACAAACAAAAAACCAAAAAACCCAAGTGTAAAAAAAGTGAGCTTGAAAGAAAGAAAGGGATGGCTCCATGTATCAAAGACAAAGAAATCAAAGCTGGGGTTGTAAGAGGGAGCTGACGCTGTGGGGGTTTCAGATCTGGATGGAGGCTTGGCCGCCTGGACTCCTACAACCATGAGTGACAGAAGAACCATATGAGTCTGGGGAGCAAGAAACAAACCCCCCGGATATATTCCAGGGTCTCCAAAG/-
|
del |
|
|
0.700 |
|
0 |
|
|