rs267608078
|
|
5
|
0.882 |
0.160 |
2 |
47803501 |
frameshift variant
|
C/-;CC;CCC
|
delins |
|
|
0.700 |
1.000 |
33 |
1997 |
2017 |
rs121913377
|
|
480
|
0.354 |
0.840 |
7 |
140753335 |
missense variant
|
CA/AT;TT
|
mnv |
|
|
0.100 |
0.957 |
23 |
2004 |
2019 |
rs63750206
|
|
9
|
0.807 |
0.200 |
3 |
36996701 |
missense variant
|
G/A;C;T
|
snv |
|
|
0.720 |
0.947 |
19 |
1995 |
2014 |
rs63751247
|
|
5
|
0.882 |
0.200 |
3 |
37047632 |
inframe deletion
|
AAG/-
|
delins |
|
|
0.700 |
1.000 |
16 |
1997 |
2018 |
rs587779075
|
|
5
|
0.882 |
0.200 |
2 |
47429830 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
15 |
1997 |
2013 |
rs63750217
|
|
10
|
0.807 |
0.240 |
3 |
37048955 |
missense variant
|
G/A;C
|
snv |
|
|
0.720 |
1.000 |
15 |
1975 |
2017 |
rs267608150
|
|
7
|
0.851 |
0.320 |
7 |
5997388 |
stop gained
|
AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN
|
delins |
|
|
0.700 |
1.000 |
14 |
2006 |
2016 |
rs63749795
|
|
8
|
0.807 |
0.240 |
3 |
37028833 |
stop gained
|
C/T
|
snv |
|
|
0.700 |
1.000 |
14 |
1992 |
2016 |
rs63750828
|
|
4
|
0.925 |
0.160 |
2 |
47416351 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
13 |
2003 |
2017 |
rs63751711
|
|
4
|
0.925 |
0.160 |
3 |
37012099 |
missense variant
|
G/A;T
|
snv |
|
|
0.700 |
1.000 |
13 |
1996 |
2016 |
rs63749843
|
|
7
|
0.827 |
0.240 |
2 |
47803449 |
stop gained
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
12 |
2002 |
2018 |
rs63749909
|
|
4
|
0.925 |
0.160 |
3 |
37028891 |
missense variant
|
T/A;C
|
snv |
|
7.0E-06
|
0.700 |
1.000 |
12 |
1996 |
2015 |
rs63750792
|
|
4
|
0.925 |
0.160 |
3 |
36993630 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
12 |
1999 |
2013 |
rs63751017
|
|
6
|
0.851 |
0.240 |
2 |
47800714 |
stop gained
|
C/A;T
|
snv |
|
1.4E-05
|
0.700 |
1.000 |
12 |
2003 |
2017 |
rs63750453
|
|
5
|
0.882 |
0.160 |
3 |
37001051 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
11 |
2001 |
2015 |
rs63750437
|
|
4
|
0.925 |
0.160 |
3 |
37000977 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
1.000 |
10 |
1997 |
2014 |
rs63750641
|
|
2
|
0.925 |
0.160 |
3 |
37000997 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
10 |
1999 |
2010 |
rs1060503115
|
|
13
|
0.763 |
0.400 |
7 |
5978664 |
missense variant
|
T/A;G
|
snv |
|
|
0.090 |
0.889 |
9 |
2007 |
2019 |
rs267607789
|
|
3
|
1.000 |
0.160 |
3 |
37014545 |
splice donor variant
|
G/A;C;T
|
snv |
|
|
0.700 |
1.000 |
9 |
1996 |
2016 |
rs63750636
|
|
6
|
0.851 |
0.240 |
2 |
47476492 |
stop gained
|
C/T
|
snv |
|
7.0E-06
|
0.700 |
1.000 |
9 |
1998 |
2014 |
rs1553361141
|
|
1
|
1.000 |
0.160 |
2 |
47445546 |
splice donor variant
|
AAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG/-
|
delins |
|
|
0.700 |
1.000 |
8 |
2003 |
2013 |
rs267607996
|
|
2
|
0.925 |
0.160 |
2 |
47476382 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
1.000 |
8 |
1999 |
2018 |
rs267608120
|
|
4
|
0.925 |
0.160 |
2 |
47806606 |
frameshift variant
|
CAAG/-
|
delins |
|
|
0.700 |
1.000 |
8 |
2003 |
2015 |
rs63749906
|
|
2
|
0.925 |
0.160 |
3 |
36993651 |
missense variant
|
T/G
|
snv |
|
|
0.700 |
1.000 |
8 |
1995 |
2007 |
rs63750070
|
|
3
|
0.882 |
0.160 |
2 |
47410245 |
missense variant
|
T/C;G
|
snv |
|
|
0.700 |
1.000 |
8 |
2005 |
2011 |