rs386834176
|
|
1
|
1.000 |
0.240 |
14 |
102929477 |
missense variant
|
G/T
|
snv |
|
|
0.800 |
1.000 |
6 |
2003 |
2018 |
rs1555381485
|
|
1
|
1.000 |
0.240 |
14 |
102929537 |
splice donor variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
2 |
2003 |
2012 |
rs969552874
|
|
1
|
1.000 |
0.240 |
14 |
102929923 |
splice acceptor variant
|
G/C
|
snv |
|
1.4E-05
|
0.700 |
1.000 |
2 |
2003 |
2012 |
rs119478058
|
|
2
|
0.925 |
0.240 |
14 |
102923789 |
missense variant
|
C/A;T
|
snv |
1.6E-05
|
|
0.700 |
|
0 |
|
|
rs144077391
|
|
1
|
1.000 |
0.240 |
14 |
102929087 |
non coding transcript exon variant
|
G/A;C
|
snv |
1.4E-05;
1.5E-03
|
|
0.700 |
|
0 |
|
|
rs375774640
|
|
1
|
1.000 |
0.240 |
14 |
102923978 |
missense variant
|
T/A;C
|
snv |
4.0E-06;
7.2E-05
|
|
0.700 |
|
0 |
|
|
rs386834160
|
|
1
|
1.000 |
0.240 |
14 |
102930096 |
non coding transcript exon variant
|
CCATCCCGCCCCGCC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386834161
|
|
1
|
1.000 |
0.240 |
14 |
102930108 |
non coding transcript exon variant
|
CCTCGCCCCGCCGCG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386834162
|
|
1
|
1.000 |
0.240 |
14 |
102930122 |
non coding transcript exon variant
|
TCGCCCCGCCGCGGG/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs386834163
|
|
1
|
1.000 |
0.240 |
14 |
102930172 |
frameshift variant
|
CCTCGGCG/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs386834164
|
|
1
|
1.000 |
0.240 |
14 |
102930400 |
splice region variant
|
C/T
|
snv |
2.1E-03
|
2.9E-03
|
0.700 |
|
0 |
|
|
rs386834165
|
|
1
|
1.000 |
0.240 |
14 |
102930488 |
frameshift variant
|
-/A
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386834166
|
|
1
|
1.000 |
0.240 |
14 |
102930503 |
non coding transcript exon variant
|
C/T
|
snv |
1.5E-05
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs386834167
|
|
1
|
1.000 |
0.240 |
14 |
102930630 |
frameshift variant
|
CA/-
|
delins |
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs386834168
|
|
2
|
0.925 |
0.240 |
14 |
102922700 |
frameshift variant
|
G/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386834169
|
|
1
|
1.000 |
0.240 |
14 |
102928425 |
splice acceptor variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386834170
|
|
1
|
1.000 |
0.240 |
14 |
102928424 |
splice acceptor variant
|
A/G
|
snv |
3.7E-05
|
|
0.700 |
|
0 |
|
|
rs386834171
|
|
1
|
1.000 |
0.240 |
14 |
102928512 |
splice donor variant
|
G/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386834172
|
|
1
|
1.000 |
0.240 |
14 |
102922732 |
splice donor variant
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386834173
|
|
1
|
1.000 |
0.240 |
14 |
102928929 |
frameshift variant
|
-/T
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386834174
|
|
1
|
1.000 |
0.240 |
14 |
102929439 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386834175
|
|
1
|
1.000 |
0.240 |
14 |
102929455 |
inframe deletion
|
AGCCCCTGGGCGGCCGCTGCCCCCAGGCCGCCTGCCACAGCGCCCTCC/-
|
delins |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs386834177
|
|
1
|
1.000 |
0.240 |
14 |
102929518 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386834178
|
|
1
|
1.000 |
0.240 |
14 |
102929655 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386834179
|
|
1
|
1.000 |
0.240 |
14 |
102930052 |
frameshift variant
|
-/CCCG
|
delins |
|
|
0.700 |
|
0 |
|
|