rs869312699
|
|
4
|
0.925 |
0.160 |
11 |
120986102 |
protein altering variant
|
CTGGCGCAGGAGGCC/GCT
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1554943158
|
|
6
|
0.882 |
0.040 |
11 |
681045 |
inframe deletion
|
CTT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1057524237
|
|
7
|
0.851 |
0.280 |
1 |
102915626 |
splice region variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1085308056
|
|
8
|
0.851 |
0.160 |
10 |
87957850 |
splice region variant
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs387906271
|
|
11
|
0.790 |
0.320 |
8 |
60801598 |
splice region variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553368900
|
|
1
|
1.000 |
0.040 |
2 |
50925810 |
splice acceptor variant
|
CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/-
|
del |
|
|
0.700 |
1.000 |
2 |
2012 |
2013 |
rs1057518850
|
|
2
|
1.000 |
0.040 |
X |
147928320 |
splice acceptor variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569509136
|
|
24
|
0.708 |
0.400 |
X |
53647576 |
splice acceptor variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1567368243
|
|
9
|
0.882 |
0.040 |
15 |
75411651 |
frameshift variant
|
-/T
|
delins |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1085308050
|
|
7
|
0.827 |
0.160 |
10 |
87933178 |
frameshift variant
|
-/A
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1085308052
|
|
5
|
0.851 |
0.160 |
10 |
87952144 |
frameshift variant
|
-/T
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1085308054
|
|
7
|
0.827 |
0.160 |
10 |
87952231 |
frameshift variant
|
AT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1085308055
|
|
4
|
0.882 |
0.120 |
10 |
87952240 |
frameshift variant
|
TCAGT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553510171
|
|
2
|
1.000 |
0.040 |
2 |
161416881 |
frameshift variant
|
C/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1553510280
|
|
2
|
1.000 |
0.040 |
2 |
161417690 |
frameshift variant
|
GTTTTAA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553510680
|
|
2
|
1.000 |
0.040 |
2 |
161420241 |
frameshift variant
|
-/G
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553511175
|
|
2
|
1.000 |
0.040 |
2 |
161423547 |
frameshift variant
|
ACG/CA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553511216
|
|
2
|
1.000 |
0.040 |
2 |
161423815 |
frameshift variant
|
-/GCCCGCAGTC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553511226
|
|
2
|
1.000 |
0.040 |
2 |
161423830 |
frameshift variant
|
GC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553655558
|
|
43
|
0.752 |
0.360 |
2 |
229830831 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1554317002
|
|
45
|
0.724 |
0.440 |
7 |
39950821 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs755246809
|
|
7
|
0.827 |
0.280 |
6 |
135404951 |
frameshift variant
|
T/-
|
delins |
5.9E-04
|
4.9E-05
|
0.700 |
|
0 |
|
|
rs777843533
|
|
3
|
0.925 |
0.160 |
10 |
79307487 |
frameshift variant
|
-/C
|
delins |
|
|
0.700 |
|
0 |
|
|
rs869312678
|
|
3
|
0.925 |
0.160 |
22 |
42209920 |
frameshift variant
|
CA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs869312704
|
|
10
|
0.882 |
0.160 |
2 |
161423752 |
frameshift variant
|
-/GGCTGCA
|
delins |
|
|
0.700 |
|
0 |
|
|