rs5743708
|
|
98
|
0.525 |
0.800 |
4 |
153705165 |
missense variant
|
G/A
|
snv |
1.7E-02
|
1.8E-02
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs80338965
|
|
5
|
0.851 |
0.480 |
18 |
51067121 |
frameshift variant
|
CAGA/-
|
delins |
|
|
0.700 |
1.000 |
12 |
1998 |
2017 |
rs587783060
|
|
1
|
1.000 |
0.120 |
18 |
51078354 |
frameshift variant
|
-/A
|
delins |
|
|
0.700 |
1.000 |
11 |
2000 |
2013 |
rs377767347
|
|
14
|
0.742 |
0.520 |
18 |
51065549 |
missense variant
|
G/A;C;T
|
snv |
|
|
0.700 |
1.000 |
8 |
1998 |
2016 |
rs281875322
|
|
6
|
0.807 |
0.480 |
18 |
51078306 |
missense variant
|
A/G
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
7 |
2011 |
2016 |
rs587783038
|
|
1
|
1.000 |
0.120 |
10 |
86890109 |
frameshift variant
|
-/A
|
ins |
|
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs1555687386
|
|
1
|
1.000 |
0.120 |
18 |
51076734 |
frameshift variant
|
-/CCCT
|
delins |
|
|
0.700 |
1.000 |
6 |
1997 |
2012 |
rs1568211187
|
|
1
|
1.000 |
0.120 |
18 |
51076670 |
frameshift variant
|
AGCAGCAGGCGGCTACTGCACAAGC/-
|
delins |
|
|
0.700 |
1.000 |
5 |
1997 |
2012 |
rs199476089
|
|
1
|
1.000 |
0.120 |
10 |
86923442 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
1.000 |
4 |
2001 |
2003 |
rs1555685248
|
|
1
|
1.000 |
0.120 |
18 |
51049326 |
splice donor variant
|
T/C
|
snv |
|
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs1555686086
|
|
1
|
1.000 |
0.120 |
18 |
51059916 |
splice donor variant
|
G/-
|
delins |
|
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs1555687377
|
|
1
|
1.000 |
0.120 |
18 |
51076637 |
splice acceptor variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs1564673999
|
|
1
|
1.000 |
0.120 |
10 |
86756638 |
splice donor variant
|
CGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCGGG/-
|
delins |
|
|
0.700 |
1.000 |
3 |
2010 |
2012 |
rs1568208715
|
|
1
|
1.000 |
0.120 |
18 |
51067017 |
splice acceptor variant
|
A/C
|
snv |
|
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs397518413
|
|
4
|
0.882 |
0.400 |
18 |
51078294 |
missense variant
|
C/T
|
snv |
8.0E-06
|
|
0.700 |
1.000 |
3 |
2014 |
2014 |
rs587781618
|
|
2
|
1.000 |
0.120 |
18 |
51067188 |
splice donor variant
|
G/A;T
|
snv |
|
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs1060500740
|
|
1
|
1.000 |
0.120 |
18 |
51076778 |
splice donor variant
|
T/C
|
snv |
|
|
0.700 |
1.000 |
2 |
2006 |
2012 |
rs1060503408
|
|
1
|
1.000 |
0.120 |
10 |
86919236 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
1.000 |
2 |
2001 |
2002 |
rs121912581
|
|
2
|
0.925 |
0.200 |
18 |
51065521 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
2 |
1998 |
2002 |
rs1554886816
|
|
1
|
1.000 |
0.120 |
10 |
86876060 |
frameshift variant
|
TGTT/-
|
delins |
|
|
0.700 |
1.000 |
2 |
2001 |
2013 |
rs1564715427
|
|
1
|
1.000 |
0.120 |
10 |
86892126 |
splice acceptor variant
|
G/C
|
snv |
|
|
0.700 |
1.000 |
2 |
2001 |
2002 |
rs1564724111
|
|
1
|
1.000 |
0.120 |
10 |
86919170 |
splice acceptor variant
|
AGGTT/-
|
del |
|
|
0.700 |
1.000 |
2 |
2001 |
2002 |
rs377767326
|
|
1
|
1.000 |
0.120 |
18 |
51048839 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
2 |
2006 |
2007 |
rs587782400
|
|
2
|
1.000 |
0.120 |
10 |
86917275 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
2 |
2001 |
2009 |
rs587782682
|
|
2
|
1.000 |
0.120 |
10 |
86917140 |
stop gained
|
C/A;T
|
snv |
3.2E-05
|
|
0.700 |
1.000 |
2 |
2002 |
2013 |