rs1553368900
|
|
1
|
1.000 |
0.040 |
2 |
50925810 |
splice acceptor variant
|
CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/-
|
del |
|
|
0.700 |
1.000 |
2 |
2012 |
2013 |
rs387907144
|
|
34
|
0.716 |
0.600 |
6 |
157181056 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs1057519565
|
|
9
|
0.851 |
0.200 |
11 |
687941 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1554297905
|
|
6
|
0.882 |
0.160 |
7 |
39686740 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1554904159
|
|
11
|
0.851 |
0.160 |
11 |
1442607 |
splice donor variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1554904772
|
|
4
|
0.882 |
0.280 |
11 |
1443490 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1554943158
|
|
6
|
0.882 |
0.040 |
11 |
681045 |
inframe deletion
|
CTT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1554944271
|
|
14
|
0.851 |
0.240 |
11 |
686925 |
missense variant
|
C/G
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1555649483
|
|
12
|
0.851 |
0.200 |
17 |
67909751 |
splice donor variant
|
GAAGGACCAAGG/-
|
del |
|
|
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 |
|
|
rs1057519389
|
|
46
|
0.695 |
0.400 |
10 |
129957324 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057524237
|
|
7
|
0.851 |
0.280 |
1 |
102915626 |
splice region variant
|
C/T
|
snv |
|
|
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 |
|
|
rs1085308045
|
|
8
|
0.807 |
0.160 |
10 |
87933128 |
missense variant
|
C/G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1085308046
|
|
9
|
0.790 |
0.240 |
10 |
87933160 |
missense variant
|
T/C;G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1085308047
|
|
6
|
0.827 |
0.160 |
10 |
87864509 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1085308048
|
|
6
|
0.851 |
0.320 |
10 |
87933175 |
stop gained
|
T/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1085308050
|
|
7
|
0.827 |
0.160 |
10 |
87933178 |
frameshift variant
|
-/A
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1085308051
|
|
6
|
0.882 |
0.200 |
10 |
87933229 |
missense variant
|
A/G
|
snv |
4.0E-06
|
|
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 |
|
|
rs1085308056
|
|
8
|
0.851 |
0.160 |
10 |
87957850 |
splice region variant
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|