rs397514495
|
|
4
|
0.882 |
0.120 |
17 |
7675070 |
missense variant
|
C/A;T
|
snv |
1.2E-05
|
|
0.800 |
1.000 |
15 |
1990 |
2016 |
rs55863639
|
|
2
|
1.000 |
0.120 |
17 |
7675994 |
splice region variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
11 |
1992 |
2016 |
rs112431538
|
|
2
|
1.000 |
0.120 |
17 |
7673767 |
missense variant
|
C/T
|
snv |
|
7.0E-06
|
0.700 |
1.000 |
9 |
1997 |
2015 |
rs1064795203
|
|
2
|
1.000 |
0.120 |
17 |
7675080 |
missense variant
|
G/C;T
|
snv |
|
|
0.700 |
1.000 |
6 |
2003 |
2018 |
rs866380588
|
|
1
|
1.000 |
0.120 |
17 |
7674957 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
6 |
2010 |
2016 |
rs1555525703
|
|
1
|
1.000 |
0.120 |
17 |
7674857 |
splice donor variant
|
A/T
|
snv |
|
|
0.700 |
1.000 |
4 |
2003 |
2013 |
rs1567553501
|
|
1
|
1.000 |
0.120 |
17 |
7675138 |
missense variant
|
GC/AA
|
mnv |
|
|
0.700 |
1.000 |
4 |
2003 |
2015 |
rs755394212
|
|
1
|
1.000 |
0.120 |
17 |
7670649 |
stop gained
|
G/A;T
|
snv |
2.0E-05
|
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs121912662
|
|
2
|
0.925 |
0.120 |
17 |
7670678 |
missense variant
|
A/G
|
snv |
|
|
0.800 |
1.000 |
3 |
1990 |
2017 |
rs17882252
|
|
2
|
0.925 |
0.120 |
17 |
7670694 |
stop gained
|
C/A;G;T
|
snv |
8.0E-06;
6.4E-05
|
|
0.700 |
1.000 |
3 |
1998 |
2016 |
rs587781664
|
|
2
|
1.000 |
0.120 |
17 |
7669692 |
splice acceptor variant
|
T/C
|
snv |
|
|
0.700 |
1.000 |
3 |
2010 |
2015 |
rs11575996
|
|
2
|
1.000 |
0.120 |
17 |
7673535 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2012 |
2018 |
rs1555526470
|
|
1
|
1.000 |
0.120 |
17 |
7675992 |
splice region variant
|
-/C
|
delins |
|
|
0.700 |
1.000 |
2 |
2007 |
2010 |
rs397516434
|
|
2
|
1.000 |
0.120 |
17 |
7670669 |
missense variant
|
G/A;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2016 |
2016 |
rs397516438
|
|
2
|
1.000 |
0.120 |
17 |
7676398 |
splice acceptor variant
|
GGAA/ACGTTCTT
|
delins |
|
|
0.700 |
1.000 |
2 |
1996 |
1997 |
rs587782272
|
|
2
|
1.000 |
0.120 |
17 |
7670716 |
splice acceptor variant
|
C/G;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2000 |
2010 |
rs1131691004
|
|
2
|
1.000 |
0.120 |
17 |
7676039 |
frameshift variant
|
-/GAAACCG
|
delins |
|
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs1131691033
|
|
2
|
1.000 |
0.120 |
17 |
7673534 |
splice donor variant
|
C/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1555525040
|
|
1
|
1.000 |
0.120 |
17 |
7673691 |
splice donor variant
|
GCTTACCTCGCTT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1555526462
|
|
1
|
1.000 |
0.120 |
17 |
7675973 |
splice donor variant
|
CAGCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAAGAAGCCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGA/-
|
del |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1555526750
|
|
1
|
1.000 |
0.120 |
17 |
7676213 |
frameshift variant
|
TT/-
|
del |
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1555526795
|
|
1
|
1.000 |
0.120 |
17 |
7676257 |
frameshift variant
|
G/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1567548832
|
|
1
|
1.000 |
0.120 |
17 |
7674175 |
splice donor variant
|
ACCTG/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs786202601
|
|
2
|
1.000 |
0.120 |
22 |
28694059 |
frameshift variant
|
T/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs878854072
|
|
1
|
1.000 |
0.120 |
17 |
7674879 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
1 |
2003 |
2003 |