rs587776892
|
|
2
|
0.925 |
0.120 |
20 |
63930871 |
inframe deletion
|
CTC/-
|
delins |
|
|
0.700 |
1.000 |
5 |
2011 |
2013 |
rs63751177
|
|
2
|
1.000 |
0.120 |
17 |
44351438 |
stop gained
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs386833694
|
|
2
|
0.925 |
0.120 |
16 |
28482161 |
missense variant
|
G/A;T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
6 |
1997 |
2009 |
rs386833695
|
|
2
|
0.925 |
0.120 |
16 |
28482160 |
missense variant
|
C/T
|
snv |
2.4E-05
|
2.1E-05
|
0.700 |
1.000 |
6 |
1997 |
2013 |
rs386833720
|
|
2
|
0.925 |
0.120 |
16 |
28487492 |
frameshift variant
|
C/-
|
delins |
4.0E-06
|
7.0E-06
|
0.700 |
1.000 |
3 |
1997 |
2010 |
rs1267314028
|
|
1
|
1.000 |
0.120 |
16 |
28486388 |
synonymous variant
|
G/A
|
snv |
|
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs267606737
|
|
3
|
0.882 |
0.120 |
16 |
28486427 |
stop gained
|
G/T
|
snv |
4.0E-06
|
|
0.710 |
1.000 |
1 |
2009 |
2009 |
rs386833698
|
|
2
|
0.925 |
0.120 |
16 |
28482102 |
splice region variant
|
T/G
|
snv |
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs386833709
|
|
2
|
0.925 |
0.120 |
16 |
28489298 |
stop gained
|
G/A
|
snv |
|
1.4E-05
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs762896453
|
|
1
|
1.000 |
0.120 |
16 |
28482353 |
synonymous variant
|
G/A
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs1057516677
|
|
2
|
0.925 |
0.120 |
16 |
28477875 |
stop gained
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121434286
|
|
3
|
0.882 |
0.120 |
16 |
28482500 |
stop gained
|
C/A;T
|
snv |
2.4E-05
|
|
0.700 |
|
0 |
|
|
rs1555468634
|
|
2
|
0.925 |
0.120 |
16 |
28485965 |
splice donor variant
|
ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs386833732
|
|
2
|
0.925 |
0.120 |
16 |
28486455 |
frameshift variant
|
C/-;CC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386833736
|
|
2
|
0.925 |
0.120 |
16 |
28486401 |
frameshift variant
|
-/A
|
delins |
1.2E-05
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs386833740
|
|
2
|
0.925 |
0.120 |
16 |
28482344 |
frameshift variant
|
-/T
|
delins |
3.2E-05;
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs104894483
|
|
3
|
0.925 |
0.120 |
15 |
68214373 |
stop gained
|
C/A;G;T
|
snv |
6.8E-05;
2.6E-03;
2.0E-05;
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs121908080
|
|
2
|
0.925 |
0.120 |
15 |
68211698 |
inframe deletion
|
ATG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs154774640
|
|
2
|
0.925 |
0.120 |
15 |
68218584 |
stop gained
|
G/C
|
snv |
8.0E-06
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs397515352
|
|
3
|
0.925 |
0.120 |
15 |
68211844 |
frameshift variant
|
-/G
|
delins |
2.4E-05;
2.8E-05
|
|
0.700 |
|
0 |
|
|
rs768422260
|
|
2
|
0.925 |
0.120 |
15 |
68208280 |
inframe deletion
|
GAG/-
|
delins |
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs774543080
|
|
2
|
0.925 |
0.120 |
15 |
68211765 |
frameshift variant
|
AG/-
|
delins |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833966
|
|
2
|
0.925 |
0.120 |
13 |
77000824 |
frameshift variant
|
T/-
|
delins |
|
|
0.700 |
1.000 |
6 |
1998 |
2013 |
rs386833969
|
|
2
|
0.925 |
0.120 |
13 |
77000918 |
frameshift variant
|
AT/-
|
delins |
|
|
0.700 |
1.000 |
5 |
2002 |
2013 |
rs386833967
|
|
2
|
0.925 |
0.120 |
13 |
77000845 |
frameshift variant
|
AACA/-
|
delins |
|
2.8E-05
|
0.700 |
1.000 |
3 |
2008 |
2012 |