rs375562245
|
|
1
|
|
|
11 |
66566363 |
stop gained
|
G/A;C
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs778003597
|
|
1
|
|
|
5 |
126559300 |
frameshift variant
|
-/G
|
delins |
8.0E-06
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs780843272
|
|
1
|
|
|
16 |
30993183 |
stop gained
|
G/A;C
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs794727741
|
|
1
|
|
|
20 |
63442521 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs797045941
|
|
1
|
|
|
2 |
166051964 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs797045942
|
|
1
|
|
|
2 |
165344559 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs886041276
|
|
1
|
|
|
15 |
89319275 |
frameshift variant
|
CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs368435864
|
|
2
|
1.000 |
0.080 |
15 |
89318736 |
missense variant
|
C/A;T
|
snv |
1.2E-05;
2.0E-05
|
|
0.700 |
1.000 |
9 |
2006 |
2013 |
rs750428882
|
|
2
|
1.000 |
0.120 |
11 |
6616375 |
missense variant
|
G/A;C
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
4 |
2009 |
2013 |
rs1555850151
|
|
2
|
1.000 |
|
20 |
63406659 |
frameshift variant
|
-/GCCCA
|
delins |
|
|
0.700 |
1.000 |
3 |
2003 |
2014 |
rs267607235
|
|
2
|
1.000 |
0.120 |
4 |
127921639 |
missense variant
|
G/A
|
snv |
2.0E-05
|
7.0E-06
|
0.700 |
1.000 |
3 |
2009 |
2012 |
rs1392120633
|
|
2
|
1.000 |
0.040 |
12 |
51807223 |
missense variant
|
C/T
|
snv |
4.0E-06
|
|
0.020 |
1.000 |
2 |
2019 |
2020 |
rs778573169
|
|
2
|
1.000 |
0.080 |
15 |
89319225 |
splice region variant
|
T/A;C
|
snv |
4.0E-05
|
|
0.700 |
1.000 |
2 |
2011 |
2013 |
rs115466046
|
|
2
|
|
|
1 |
160042480 |
missense variant
|
C/T
|
snv |
1.2E-02
|
1.1E-02
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs121918815
|
|
2
|
1.000 |
0.080 |
2 |
165991679 |
missense variant
|
C/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2004 |
2004 |
rs122453114
|
|
2
|
1.000 |
0.120 |
X |
153693586 |
missense variant
|
G/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2002 |
2002 |
rs132630298
|
|
2
|
1.000 |
0.200 |
X |
134393556 |
missense variant
|
G/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs140646329
|
|
2
|
|
|
1 |
160042283 |
missense variant
|
C/T
|
snv |
2.0E-05
|
1.4E-05
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1438466809
|
|
2
|
|
|
11 |
128840191 |
missense variant
|
C/T
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs200396597
|
|
2
|
1.000 |
0.080 |
21 |
25881743 |
missense variant
|
C/T
|
snv |
|
7.0E-06
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs2279020
|
|
2
|
1.000 |
0.040 |
5 |
161895883 |
non coding transcript exon variant
|
G/A
|
snv |
0.62
|
0.63
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs2351299
|
|
2
|
1.000 |
0.040 |
4 |
47141348 |
intron variant
|
G/T
|
snv |
|
0.19
|
0.010 |
< 0.001 |
1 |
2006 |
2006 |
rs28937874
|
|
2
|
1.000 |
0.120 |
10 |
93797277 |
missense variant
|
A/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs370243877
|
|
2
|
1.000 |
0.160 |
17 |
47941773 |
missense variant
|
A/T
|
snv |
1.1E-04
|
1.3E-04
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs371753097
|
|
2
|
1.000 |
0.080 |
17 |
28959400 |
missense variant
|
C/T
|
snv |
2.4E-05
|
2.1E-05
|
0.010 |
1.000 |
1 |
2018 |
2018 |