rs1376664664
|
|
3
|
0.882 |
0.320 |
17 |
58214739 |
splice donor variant
|
A/C;G
|
snv |
4.1E-06
|
|
0.700 |
|
0 |
|
|
rs1488635637
|
|
6
|
0.827 |
0.360 |
17 |
58208003 |
splice acceptor variant
|
T/C;G
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1555596845
|
|
3
|
0.882 |
0.320 |
17 |
58206493 |
frameshift variant
|
GTGACAGTGCCTGTGGTCTCTGTGCGGAG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555596943
|
|
3
|
0.882 |
0.320 |
17 |
58206549 |
splice acceptor variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555601787
|
|
3
|
0.882 |
0.320 |
17 |
58219230 |
start lost
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs375170572
|
|
5
|
0.827 |
0.320 |
17 |
58218618 |
splice donor variant
|
A/G
|
snv |
3.2E-05
|
3.5E-05
|
0.700 |
|
0 |
|
|
rs386834043
|
|
4
|
0.851 |
0.320 |
17 |
58206553 |
splice region variant
|
ATGCCATTGGGACAGCCTCAGGTTTCTGC/-
|
delins |
|
1.3E-03
|
0.700 |
|
0 |
|
|
rs386834053
|
|
2
|
0.925 |
0.320 |
17 |
58210980 |
missense variant
|
C/T
|
snv |
2.0E-05
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs730880323
|
|
1
|
1.000 |
0.320 |
17 |
58219176 |
frameshift variant
|
-/CCGGG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs756102768
|
|
3
|
0.882 |
0.320 |
17 |
58212981 |
splice donor variant
|
C/G;T
|
snv |
4.0E-06;
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs756853299
|
|
3
|
0.882 |
0.320 |
17 |
58214748 |
stop gained
|
G/A
|
snv |
8.2E-06
|
|
0.700 |
|
0 |
|
|
rs762668200
|
|
3
|
0.882 |
0.320 |
17 |
58206543 |
splice acceptor variant
|
-/C
|
delins |
6.5E-05
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs773684291
|
|
2
|
0.925 |
0.320 |
17 |
58207959 |
missense variant
|
G/A;C
|
snv |
8.0E-06;
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs775043799
|
|
3
|
0.882 |
0.320 |
17 |
58216137 |
frameshift variant
|
-/G
|
delins |
|
|
0.700 |
|
0 |
|
|
rs794727070
|
|
3
|
0.882 |
0.320 |
17 |
58208585 |
splice acceptor variant
|
T/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs797045706
|
|
3
|
0.882 |
0.320 |
17 |
58212996 |
stop gained
|
G/A
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs865870355
|
|
3
|
0.882 |
0.320 |
17 |
58207098 |
frameshift variant
|
G/-
|
delins |
8.0E-06
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs1487082103
|
|
2
|
0.925 |
0.320 |
19 |
41354927 |
missense variant
|
T/G
|
snv |
8.2E-06
|
|
0.010 |
< 0.001 |
1 |
2011 |
2011 |
rs886044605
|
|
1
|
1.000 |
0.320 |
17 |
58216174 |
missense variant
|
T/C;G
|
snv |
4.0E-06
|
|
0.010 |
< 0.001 |
1 |
2011 |
2011 |
rs386834048
|
|
5
|
0.827 |
0.320 |
17 |
58216088 |
splice region variant
|
C/T
|
snv |
1.3E-04
|
1.3E-04
|
0.700 |
1.000 |
4 |
2007 |
2015 |
rs201845154
|
|
1
|
1.000 |
0.320 |
17 |
58214760 |
missense variant
|
G/A
|
snv |
1.8E-04
|
3.4E-04
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs754279998
|
|
10
|
0.776 |
0.360 |
17 |
58208153 |
inframe deletion
|
GAG/-
|
delins |
2.0E-05
|
1.4E-05
|
0.700 |
1.000 |
3 |
2014 |
2016 |
rs863225205
|
|
2
|
0.925 |
0.320 |
17 |
58219176 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs863225208
|
|
2
|
0.925 |
0.320 |
17 |
58210988 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs863225210
|
|
2
|
0.925 |
0.320 |
17 |
58207906 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
3 |
2006 |
2016 |