rs386833736
|
|
2
|
0.925 |
0.120 |
16 |
28486401 |
frameshift variant
|
-/A
|
delins |
1.2E-05
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1555273604
|
|
1
|
1.000 |
0.120 |
13 |
76992207 |
frameshift variant
|
-/ATCCGGGCTGG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386833979
|
|
2
|
0.925 |
0.120 |
13 |
76996083 |
frameshift variant
|
-/C
|
delins |
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs397515352
|
|
3
|
0.925 |
0.120 |
15 |
68211844 |
frameshift variant
|
-/G
|
delins |
2.4E-05;
2.8E-05
|
|
0.700 |
|
0 |
|
|
rs386833634
|
|
2
|
0.925 |
0.120 |
1 |
40092462 |
frameshift variant
|
-/T
|
delins |
3.2E-05;
4.0E-06;
4.0E-06
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs386833740
|
|
2
|
0.925 |
0.120 |
16 |
28482344 |
frameshift variant
|
-/T
|
delins |
3.2E-05;
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs398122959
|
|
2
|
0.925 |
0.120 |
11 |
6615199 |
missense variant
|
A/C
|
snv |
4.0E-06
|
1.4E-05
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1060502179
|
|
1
|
1.000 |
0.120 |
11 |
6618823 |
missense variant
|
A/C
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs386833975
|
|
2
|
0.925 |
0.120 |
13 |
76995990 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs202189057
|
|
2
|
0.925 |
0.120 |
11 |
6617695 |
stop gained
|
A/T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
4 |
2009 |
2016 |
rs587778809
|
|
2
|
0.925 |
0.120 |
4 |
127938781 |
splice donor variant
|
A/T
|
snv |
8.0E-06
|
2.8E-05
|
0.700 |
|
0 |
|
|
rs386833967
|
|
2
|
0.925 |
0.120 |
13 |
77000845 |
frameshift variant
|
AACA/-
|
delins |
|
2.8E-05
|
0.700 |
1.000 |
3 |
2008 |
2012 |
rs1554902216
|
|
2
|
0.925 |
0.120 |
11 |
6618820 |
frameshift variant
|
AG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs774543080
|
|
2
|
0.925 |
0.120 |
15 |
68211765 |
frameshift variant
|
AG/-
|
delins |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833969
|
|
2
|
0.925 |
0.120 |
13 |
77000918 |
frameshift variant
|
AT/-
|
delins |
|
|
0.700 |
1.000 |
5 |
2002 |
2013 |
rs786204644
|
|
2
|
0.925 |
0.120 |
13 |
77000667 |
frameshift variant
|
AT/-
|
delins |
|
|
0.700 |
1.000 |
2 |
1998 |
2012 |
rs121908080
|
|
2
|
0.925 |
0.120 |
15 |
68211698 |
inframe deletion
|
ATG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555468634
|
|
2
|
0.925 |
0.120 |
16 |
28485965 |
splice donor variant
|
ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/-
|
del |
|
|
0.700 |
|
0 |
|
|
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 |
rs1555273881
|
|
1
|
1.000 |
0.120 |
13 |
76995075 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386833732
|
|
2
|
0.925 |
0.120 |
16 |
28486455 |
frameshift variant
|
C/-;CC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs119455957
|
|
3
|
0.882 |
0.120 |
11 |
6616696 |
missense variant
|
C/A
|
snv |
8.0E-06
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs56144125
|
|
6
|
0.827 |
0.240 |
11 |
6617154 |
splice acceptor variant
|
C/A;G;T
|
snv |
4.0E-04;
1.2E-05
|
|
0.700 |
1.000 |
6 |
1997 |
2013 |
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 |
|
|
rs386833659
|
|
2
|
0.925 |
0.120 |
1 |
40078659 |
splice acceptor variant
|
C/A;T
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
3 |
2000 |
2007 |