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 |
|
|
rs1057519565
|
|
9
|
0.851 |
0.200 |
11 |
687941 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
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 |
|
|
rs121913294
|
|
14
|
0.776 |
0.280 |
10 |
87952143 |
missense variant
|
G/A;C;T
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs1414334
|
|
5
|
0.851 |
0.160 |
X |
114903581 |
intron variant
|
C/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1553368900
|
|
1
|
1.000 |
0.040 |
2 |
50925810 |
splice acceptor variant
|
CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/-
|
del |
|
|
0.700 |
1.000 |
2 |
2012 |
2013 |
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 |
|
|