rs104893748
|
|
2
|
0.925 |
0.080 |
3 |
46859511 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs104894369
|
|
10
|
0.807 |
0.080 |
12 |
110914287 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs104894828
|
|
3
|
0.882 |
0.160 |
X |
101398467 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs104894845
|
|
8
|
0.807 |
0.160 |
X |
101401752 |
missense variant
|
C/G;T
|
snv |
5.5E-04
|
|
0.700 |
|
0 |
|
|
rs1060501475
|
|
1
|
1.000 |
0.080 |
11 |
47333647 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1060505018
|
|
1
|
1.000 |
0.080 |
14 |
23424817 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1064793202
|
|
2
|
0.925 |
0.080 |
11 |
47333622 |
frameshift variant
|
-/TT
|
delins |
|
|
0.700 |
|
0 |
|
|
rs121434467
|
|
2
|
0.925 |
0.200 |
MT |
4295 |
non coding transcript exon variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121434470
|
|
1
|
1.000 |
0.080 |
MT |
4300 |
non coding transcript exon variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121434475
|
|
1
|
1.000 |
0.080 |
MT |
9997 |
non coding transcript exon variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121908987
|
|
12
|
0.742 |
0.200 |
7 |
151576412 |
missense variant
|
C/A;G;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs121964857
|
|
4
|
0.851 |
0.080 |
1 |
201359245 |
missense variant
|
G/A
|
snv |
3.6E-04
|
4.3E-04
|
0.700 |
|
0 |
|
|
rs143139258
|
|
4
|
0.882 |
0.080 |
12 |
110913097 |
missense variant
|
T/G
|
snv |
2.0E-04
|
2.9E-04
|
0.700 |
|
0 |
|
|
rs1554401561
|
|
1
|
1.000 |
0.080 |
7 |
128855243 |
missense variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555121488
|
|
2
|
0.925 |
0.080 |
11 |
47338681 |
splice acceptor variant
|
T/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1555123743
|
|
1
|
1.000 |
0.080 |
11 |
47351310 |
frameshift variant
|
G/AA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555336467
|
|
1
|
1.000 |
0.080 |
14 |
23416211 |
inframe deletion
|
CTC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555408679
|
|
1
|
1.000 |
0.080 |
15 |
63059648 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1565624090
|
|
1
|
1.000 |
0.080 |
11 |
47335078 |
frameshift variant
|
-/A
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1565625473
|
|
1
|
1.000 |
0.080 |
11 |
47337725 |
frameshift variant
|
-/C
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1565625777
|
|
1
|
1.000 |
0.080 |
11 |
47338519 |
frameshift variant
|
-/CGAT
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1565626409
|
|
1
|
1.000 |
0.080 |
11 |
47339714 |
frameshift variant
|
-/C
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1565627566
|
|
1
|
1.000 |
0.080 |
11 |
47342083 |
stop gained
|
ACATTTGAACACCGC/CTAAACCTCATCCTTCTCATCTCTAAAATGACGATGCTGAGGTGACCGCTCCAGAGGGTACTGAGAGGGTCATACGGGCCTGGTGAGCATCACCACCCCTCAGACACTTGAGGTTCCTTATGTGCACTGCACCATCACAGGCAAACATGGCACACACAGGCACACGTGTTTTCACATGCCCACATGCACCCAGACACGTGCGCACCAGCGCCCATGGGCCCACACGCCCTCCACAGGGATTCACGCCACACCCACACACCCTCCCGAGCTCAATGGCTCTGCCCTGCCCTGCAGAAAAGAAGCTGGAGGTGTACCAGAGCATCGCAGACCTGATGGTGGGCGCAAAGGACCAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGGTGCGGGCGGTGGGGTGGCCGGGGCTGAGGGGTGGTGCTCAGCCTTTCAGAAGAAGCTGGAGCCGGCCTACCAGGTGAGCAAAGGCCACAAGATCCGGCTGACCGTGGAACTGGCTGACCATGACGCTGAGGTCAAATGGCTCAAGAATGGCCAGGAGATCCAGATGAGCGGCAGGTGCAGCCTGGGGTGGGGAGGGGGGCTCGGGTGGAGCAGCCACAGTAGCTTGGCCTGGGGGAGCAGGG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1565628062
|
|
1
|
1.000 |
0.080 |
11 |
47342865 |
frameshift variant
|
C/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1565628486
|
|
1
|
1.000 |
0.080 |
11 |
47343541 |
frameshift variant
|
C/-
|
del |
|
|
0.700 |
|
0 |
|
|