rs730881422
|
|
2
|
1.000 |
0.080 |
2 |
214730416 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
5 |
2007 |
2016 |
rs1553612222
|
|
1
|
1.000 |
0.080 |
2 |
214728968 |
frameshift variant
|
CCCAC/-
|
delins |
|
|
0.700 |
1.000 |
4 |
2007 |
2016 |
rs587781707
|
|
3
|
1.000 |
0.080 |
2 |
214752472 |
stop gained
|
G/A;C
|
snv |
1.2E-05
|
|
0.700 |
1.000 |
4 |
2015 |
2016 |
rs587780024
|
|
3
|
0.925 |
0.200 |
2 |
214730458 |
stop gained
|
CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC
|
delins |
|
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs1553616339
|
|
1
|
1.000 |
0.080 |
2 |
214752424 |
splice donor variant
|
CCAAAGCTAAATCCATACTTACTAC/-
|
delins |
|
|
0.700 |
1.000 |
2 |
2010 |
2012 |
rs1553628351
|
|
1
|
1.000 |
0.080 |
2 |
214809411 |
splice donor variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
2 |
2010 |
2012 |
rs1559426428
|
|
1
|
1.000 |
0.080 |
2 |
214781510 |
splice acceptor variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
2 |
2010 |
2012 |
rs750413473
|
|
2
|
1.000 |
0.080 |
2 |
214728709 |
frameshift variant
|
CA/-
|
delins |
3.2E-05
|
1.4E-05
|
0.700 |
1.000 |
2 |
2015 |
2015 |
rs753785671
|
|
2
|
1.000 |
0.080 |
2 |
214780559 |
splice donor variant
|
C/T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
2 |
2010 |
2012 |
rs879254139
|
|
3
|
0.925 |
0.200 |
2 |
214797118 |
splice acceptor variant
|
C/A;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2010 |
2012 |
rs1057517589
|
|
2
|
1.000 |
0.080 |
2 |
214797099 |
frameshift variant
|
TC/-
|
delins |
|
7.0E-06
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1553612184
|
|
1
|
1.000 |
0.080 |
2 |
214728911 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1553612205
|
|
1
|
1.000 |
0.080 |
2 |
214728931 |
frameshift variant
|
-/T
|
delins |
|
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1559441846
|
|
1
|
1.000 |
0.080 |
2 |
214797092 |
frameshift variant
|
A/-
|
del |
|
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs772486760
|
|
2
|
1.000 |
0.080 |
2 |
214781413 |
frameshift variant
|
-/TCTT
|
delins |
4.0E-06
|
7.0E-06
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1060501287
|
|
1
|
1.000 |
0.080 |
2 |
214769302 |
frameshift variant
|
G/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1060501291
|
|
1
|
1.000 |
0.080 |
2 |
214780940 |
stop gained
|
T/A;G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1060501310
|
|
1
|
1.000 |
0.080 |
2 |
214752446 |
splice donor variant
|
C/G;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1064792931
|
|
1
|
1.000 |
0.080 |
2 |
214752490 |
frameshift variant
|
AGCAGCAATAGCGATTTCATACTTTCATCATCTGT/CGC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs111367604
|
|
1
|
1.000 |
0.080 |
2 |
214728927 |
missense variant
|
C/A;G;T
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs1350570988
|
|
1
|
1.000 |
0.080 |
2 |
214730473 |
stop gained
|
G/A;C
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1364256214
|
|
1
|
1.000 |
0.080 |
2 |
214780763 |
stop gained
|
T/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1405646805
|
|
1
|
1.000 |
0.080 |
2 |
214767563 |
stop gained
|
G/C
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1453894904
|
|
1
|
1.000 |
0.080 |
2 |
214781258 |
stop gained
|
G/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1482641121
|
|
2
|
1.000 |
0.080 |
2 |
214780875 |
frameshift variant
|
GA/-
|
delins |
4.0E-06
|
|
0.700 |
|
0 |
|
|