rs1057516677
|
|
2
|
0.925 |
0.120 |
16 |
28477875 |
stop gained
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121434286
|
|
3
|
0.882 |
0.120 |
16 |
28482500 |
stop gained
|
C/A;T
|
snv |
2.4E-05
|
|
0.700 |
|
0 |
|
|
rs121908080
|
|
2
|
0.925 |
0.120 |
15 |
68211698 |
inframe deletion
|
ATG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs121908199
|
|
2
|
0.925 |
0.120 |
11 |
6615542 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs140948465
|
|
2
|
0.925 |
0.120 |
4 |
127930800 |
missense variant
|
G/A;T
|
snv |
4.0E-06;
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs144495588
|
|
2
|
0.925 |
0.120 |
8 |
1771553 |
stop gained
|
G/C;T
|
snv |
8.0E-06;
1.2E-05
|
|
0.700 |
|
0 |
|
|
rs1554902216
|
|
2
|
0.925 |
0.120 |
11 |
6618820 |
frameshift variant
|
AG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555273604
|
|
1
|
1.000 |
0.120 |
13 |
76992207 |
frameshift variant
|
-/ATCCGGGCTGG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555273881
|
|
1
|
1.000 |
0.120 |
13 |
76995075 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555468634
|
|
2
|
0.925 |
0.120 |
16 |
28485965 |
splice donor variant
|
ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1564855725
|
|
5
|
0.882 |
0.160 |
11 |
6617621 |
splice region variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1564855860
|
|
1
|
1.000 |
0.120 |
11 |
6617769 |
stop gained
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs28940280
|
|
2
|
0.925 |
0.120 |
13 |
77000580 |
missense variant
|
G/A
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833651
|
|
2
|
0.925 |
0.120 |
1 |
40089409 |
splice donor variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386833732
|
|
2
|
0.925 |
0.120 |
16 |
28486455 |
frameshift variant
|
C/-;CC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386833740
|
|
2
|
0.925 |
0.120 |
16 |
28482344 |
frameshift variant
|
-/T
|
delins |
3.2E-05;
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833975
|
|
2
|
0.925 |
0.120 |
13 |
76995990 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs397515352
|
|
3
|
0.925 |
0.120 |
15 |
68211844 |
frameshift variant
|
-/G
|
delins |
2.4E-05;
2.8E-05
|
|
0.700 |
|
0 |
|
|
rs587779411
|
|
5
|
0.851 |
0.160 |
8 |
1780498 |
missense variant
|
C/G;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs750428882
|
|
2
|
1.000 |
0.120 |
11 |
6616375 |
missense variant
|
G/A;C
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs774543080
|
|
2
|
0.925 |
0.120 |
15 |
68211765 |
frameshift variant
|
AG/-
|
delins |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs786204753
|
|
2
|
0.925 |
0.120 |
11 |
6615217 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs794729218
|
|
1
|
1.000 |
0.120 |
13 |
76995933 |
frameshift variant
|
G/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs104894060
|
|
3
|
0.882 |
0.120 |
8 |
1780316 |
missense variant
|
C/T
|
snv |
3.2E-05
|
7.0E-06
|
0.700 |
1.000 |
4 |
2004 |
2014 |
rs386833736
|
|
2
|
0.925 |
0.120 |
16 |
28486401 |
frameshift variant
|
-/A
|
delins |
1.2E-05
|
7.0E-06
|
0.700 |
|
0 |
|
|