rs375431319
|
|
2
|
0.925 |
0.320 |
3 |
97780679 |
missense variant
|
T/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs780253341
|
|
2
|
0.925 |
0.320 |
15 |
72731386 |
missense variant
|
G/A;T
|
snv |
|
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs863225205
|
|
2
|
0.925 |
0.320 |
17 |
58219176 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
3 |
2006 |
2016 |
rs386834046
|
|
3
|
0.882 |
0.320 |
17 |
58218620 |
frameshift variant
|
AGTTGGC/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs386834051
|
|
3
|
0.882 |
0.320 |
17 |
58219175 |
frameshift variant
|
-/CCCGG
|
delins |
6.6E-06
|
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs386834052
|
|
3
|
0.882 |
0.320 |
17 |
58219149 |
splice donor variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
1 |
2006 |
2006 |
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 |
|
|
rs730880323
|
|
1
|
1.000 |
0.320 |
17 |
58219176 |
frameshift variant
|
-/CCGGG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs281797258
|
|
3
|
0.882 |
0.400 |
20 |
10413265 |
missense variant
|
G/A
|
snv |
4.0E-06
|
2.4E-04
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs74315394
|
|
4
|
0.851 |
0.440 |
20 |
10412791 |
missense variant
|
C/A
|
snv |
5.2E-03
|
5.0E-03
|
0.010 |
1.000 |
1 |
2005 |
2005 |
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 |
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 |
rs1114167302
|
|
2
|
0.925 |
0.320 |
17 |
58216687 |
missense variant
|
C/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1555599412
|
|
5
|
0.827 |
0.320 |
17 |
58213011 |
stop gained
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs199874059
|
|
3
|
0.882 |
0.320 |
17 |
58210658 |
splice donor variant
|
C/T
|
snv |
6.0E-05
|
2.1E-05
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs201933838
|
|
3
|
0.882 |
0.320 |
17 |
58214740 |
splice donor variant
|
C/T
|
snv |
1.2E-05
|
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs386834044
|
|
4
|
0.851 |
0.320 |
17 |
58206501 |
frameshift variant
|
-/CCTG
|
delins |
7.2E-05
|
7.0E-06
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs886044605
|
|
1
|
1.000 |
0.320 |
17 |
58216174 |
missense variant
|
T/C;G
|
snv |
4.0E-06
|
|
0.010 |
< 0.001 |
1 |
2011 |
2011 |
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 |
|
|