rs72556554
|
|
9
|
0.776 |
0.400 |
3 |
48466996 |
missense variant
|
G/A;C
|
snv |
2.1E-04;
2.7E-04
|
|
0.800 |
1.000 |
16 |
2006 |
2017 |
rs121908117
|
|
17
|
0.708 |
0.440 |
3 |
48466707 |
missense variant
|
G/A
|
snv |
|
|
0.800 |
1.000 |
14 |
2006 |
2015 |
rs78408272
|
|
1
|
1.000 |
0.120 |
3 |
48467257 |
missense variant
|
T/A
|
snv |
|
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs78846775
|
|
5
|
0.827 |
0.240 |
3 |
48467253 |
missense variant
|
G/A;T
|
snv |
|
|
0.800 |
1.000 |
8 |
2006 |
2013 |
rs76224909
|
|
1
|
1.000 |
0.120 |
3 |
48467562 |
missense variant
|
A/C
|
snv |
2.0E-05
|
7.0E-06
|
0.700 |
1.000 |
8 |
2006 |
2013 |
rs79318303
|
|
3
|
0.882 |
0.320 |
3 |
48467514 |
inframe deletion
|
CCACTGGGTCTGCTGGCC/-
|
delins |
|
|
0.700 |
1.000 |
4 |
2010 |
2017 |
rs1553820518
|
|
3
|
0.882 |
0.320 |
3 |
48467484 |
stop gained
|
A/T
|
snv |
|
|
0.700 |
1.000 |
2 |
2007 |
2016 |
rs200773268
|
|
1
|
1.000 |
0.120 |
3 |
48466945 |
missense variant
|
G/A
|
snv |
6.0E-05
|
2.8E-05
|
0.700 |
1.000 |
2 |
2013 |
2014 |
rs760594164
|
|
3
|
0.882 |
0.320 |
3 |
48466947 |
frameshift variant
|
-/A
|
delins |
7.2E-05
|
3.5E-05
|
0.700 |
1.000 |
2 |
2013 |
2013 |
rs77371662
|
|
3
|
0.882 |
0.320 |
3 |
48467020 |
inframe insertion
|
-/GGC
|
delins |
|
|
0.700 |
1.000 |
2 |
2007 |
2011 |
rs184953805
|
|
8
|
0.882 |
0.200 |
3 |
48467284 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs74689946
|
|
1
|
1.000 |
0.120 |
3 |
48466861 |
frameshift variant
|
TG/-;TGTG
|
delins |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs760838030
|
|
5
|
0.827 |
0.320 |
3 |
48466995 |
missense variant
|
C/T
|
snv |
8.0E-06
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs78300695
|
|
8
|
0.882 |
0.200 |
3 |
48466711 |
frameshift variant
|
-/G
|
delins |
|
2.1E-05
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1416519719
|
|
1
|
1.000 |
0.120 |
3 |
48467247 |
missense variant
|
G/A
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1553820434
|
|
3
|
0.882 |
0.320 |
3 |
48467354 |
frameshift variant
|
-/G
|
delins |
|
|
0.700 |
|
0 |
|
|
rs74556809
|
|
1
|
1.000 |
0.120 |
3 |
48467251 |
protein altering variant
|
-/ATG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs74876396
|
|
1
|
1.000 |
0.120 |
3 |
48467047 |
splice acceptor variant
|
-/CCCCCTGCTCCAAGCA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs755919767
|
|
1
|
1.000 |
0.120 |
3 |
48466873 |
missense variant
|
C/T
|
snv |
2.4E-05
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs76642637
|
|
1
|
1.000 |
0.120 |
3 |
48467155 |
frameshift variant
|
G/-
|
del |
4.0E-06
|
2.8E-05
|
0.700 |
|
0 |
|
|
rs768724007
|
|
1
|
1.000 |
0.120 |
3 |
48467163 |
stop gained
|
G/A;T
|
snv |
2.0E-05
|
|
0.700 |
|
0 |
|
|
rs78218009
|
|
1
|
1.000 |
0.120 |
3 |
48467145 |
stop gained
|
C/T
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs78379807
|
|
1
|
1.000 |
0.120 |
3 |
48467261 |
inframe insertion
|
-/CCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGATGC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs78762691
|
|
1
|
1.000 |
0.120 |
3 |
48467048 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs78948846
|
|
1
|
1.000 |
0.120 |
3 |
48467277 |
frameshift variant
|
-/CAGT
|
delins |
|
|
0.700 |
|
0 |
|
|