rs1553368900
|
|
1
|
1.000 |
0.040 |
2 |
50925810 |
splice acceptor variant
|
CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/-
|
del |
|
|
0.700 |
1.000 |
2 |
2012 |
2013 |
rs1554943158
|
|
6
|
0.882 |
0.040 |
11 |
681045 |
inframe deletion
|
CTT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1567368243
|
|
9
|
0.882 |
0.040 |
15 |
75411651 |
frameshift variant
|
-/T
|
delins |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1057518850
|
|
2
|
1.000 |
0.040 |
X |
147928320 |
splice acceptor variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553510171
|
|
2
|
1.000 |
0.040 |
2 |
161416881 |
frameshift variant
|
C/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1553510217
|
|
2
|
1.000 |
0.040 |
2 |
161417083 |
missense variant
|
A/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553510280
|
|
2
|
1.000 |
0.040 |
2 |
161417690 |
frameshift variant
|
GTTTTAA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1553510301
|
|
3
|
0.925 |
0.040 |
2 |
161417794 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553510313
|
|
2
|
1.000 |
0.040 |
2 |
161417827 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1553510385
|
|
2
|
1.000 |
0.040 |
2 |
161418249 |
stop gained
|
G/A
|
snv |
|
|
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 |
|
|
rs1555103646
|
|
4
|
1.000 |
0.040 |
12 |
13569964 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1560092224
|
|
5
|
0.925 |
0.040 |
3 |
114339276 |
missense variant
|
T/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569485503
|
|
2
|
1.000 |
0.040 |
X |
71167697 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs762713626
|
|
2
|
1.000 |
0.040 |
2 |
161420222 |
missense variant
|
C/G;T
|
snv |
4.0E-06
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs773080572
|
|
1
|
1.000 |
0.040 |
3 |
1295712 |
stop gained
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1569110700
|
|
5
|
0.925 |
0.080 |
22 |
42179633 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs879253767
|
|
6
|
0.882 |
0.080 |
2 |
165313738 |
frameshift variant
|
T/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1085308042
|
|
4
|
0.882 |
0.120 |
10 |
87894076 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1085308044
|
|
5
|
0.882 |
0.120 |
10 |
87864504 |
missense variant
|
A/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1085308055
|
|
4
|
0.882 |
0.120 |
10 |
87952240 |
frameshift variant
|
TCAGT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1564365418
|
|
5
|
0.882 |
0.120 |
9 |
137163846 |
missense variant
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|