rs1554902216
|
|
2
|
0.925 |
0.120 |
11 |
6618820 |
frameshift variant
|
AG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555273604
|
|
1
|
1.000 |
0.120 |
13 |
76992207 |
frameshift variant
|
-/ATCCGGGCTGG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555273881
|
|
1
|
1.000 |
0.120 |
13 |
76995075 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555468634
|
|
2
|
0.925 |
0.120 |
16 |
28485965 |
splice donor variant
|
ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1564855725
|
|
5
|
0.882 |
0.160 |
11 |
6617621 |
splice region variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1564855860
|
|
1
|
1.000 |
0.120 |
11 |
6617769 |
stop gained
|
G/C
|
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 |
rs267606737
|
|
3
|
0.882 |
0.120 |
16 |
28486427 |
stop gained
|
G/T
|
snv |
4.0E-06
|
|
0.710 |
1.000 |
1 |
2009 |
2009 |
rs28940280
|
|
2
|
0.925 |
0.120 |
13 |
77000580 |
missense variant
|
G/A
|
snv |
8.0E-06
|
|
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 |
|
|
rs386833645
|
|
2
|
0.925 |
0.120 |
1 |
40097236 |
start lost
|
C/T
|
snv |
|
1.4E-05
|
0.700 |
1.000 |
5 |
1998 |
2007 |
rs386833651
|
|
2
|
0.925 |
0.120 |
1 |
40089409 |
splice donor variant
|
C/T
|
snv |
|
|
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 |
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 |
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 |
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 |
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 |
|
|
rs386833966
|
|
2
|
0.925 |
0.120 |
13 |
77000824 |
frameshift variant
|
T/-
|
delins |
|
|
0.700 |
1.000 |
6 |
1998 |
2013 |
rs386833967
|
|
2
|
0.925 |
0.120 |
13 |
77000845 |
frameshift variant
|
AACA/-
|
delins |
|
2.8E-05
|
0.700 |
1.000 |
3 |
2008 |
2012 |
rs386833969
|
|
2
|
0.925 |
0.120 |
13 |
77000918 |
frameshift variant
|
AT/-
|
delins |
|
|
0.700 |
1.000 |
5 |
2002 |
2013 |
rs386833975
|
|
2
|
0.925 |
0.120 |
13 |
76995990 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|