rs386833703
|
|
1
|
1.000 |
0.120 |
16 |
28477586 |
missense variant
|
T/C
|
snv |
4.0E-06
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs386833716
|
|
1
|
1.000 |
0.120 |
16 |
28487662 |
missense variant
|
C/T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833723
|
|
1
|
1.000 |
0.120 |
16 |
28486639 |
missense variant
|
C/G;T
|
snv |
4.2E-06
|
|
0.700 |
|
0 |
|
|
rs386833733
|
|
1
|
1.000 |
0.120 |
16 |
28486449 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386833721
|
|
1
|
1.000 |
0.120 |
16 |
28486663 |
non coding transcript exon variant
|
C/A;G;T
|
snv |
4.5E-06;
1.3E-05
|
|
0.700 |
|
0 |
|
|
rs1555468632
|
|
2
|
0.925 |
0.160 |
16 |
28485963 |
splice donor variant
|
TTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGAGA/-
|
delins |
|
|
0.700 |
1.000 |
3 |
1995 |
2008 |
rs386833728
|
|
1
|
1.000 |
0.120 |
16 |
28486577 |
splice donor variant
|
C/G;T
|
snv |
|
|
0.700 |
1.000 |
2 |
1999 |
2015 |
rs1057516267
|
|
1
|
1.000 |
0.120 |
16 |
28482326 |
splice donor variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057516343
|
|
1
|
1.000 |
0.120 |
16 |
28491713 |
splice donor variant
|
C/G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057517287
|
|
1
|
1.000 |
0.120 |
16 |
28486346 |
splice donor variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555468374
|
|
1
|
1.000 |
0.120 |
16 |
28484005 |
splice donor variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555468634
|
|
2
|
0.925 |
0.120 |
16 |
28485965 |
splice donor variant
|
ATTGCAATCATAATCAAGTTTTCTTTTCTTTCTTTTTTTTTTTTTCTTCCTGAGACAGAGTCTAACTCTGTCGCCCGGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCCACCACTGCCTCCGGGGTTCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGTTGGGACTACAGGCACCCGCCACCACACCTGGCTAATTGTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCCTGACCTTAGGCGATCTGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCCATGGCCAAGTTTTCTCTCCTTGGACCCCTCTCCCTCCCGGCTCAGGGCAGCTCACCTGGCCAGCAGCAGGGCAGGGATACCCAGCATGGACAGCAGGGTCTGCTGAGGGGAGAGGCCGGCCTGGGTGAGGCCCAGGTAGGACAGGGCCCCCAGCAGCCCAGCTCCCCCAGTCCCTGAGGACCACCAGGAGATCACGGCCCTGGGAAGGAGAACACAGGAACATTCAGGAGGACCTAGGCTGACCATGGGACAGCCTCTCCCCACACTCCCTGCTCCACCTGCTTACCTGGGGTAGAAGGCAGTGAGGGAGAGGAAGGTGACCTCCCCAAGGCCTGATGAGATGCTAGCGAAGACCACACCTGGGGGGAGGACAAGCACTGGGATGGTCACACCACACCTTGCCACACTGCCCAGGCCTCTAATGTGTCTGGCCATGGCCTCCTCAGTATCAGCTCATAGAGGCTCCAATAGATCCCATGCATAGGCCAGGTTCCAGGTCTGAAGCAGAGCCCCACTCCCCTGCGTGTCCCTTCATGGAGAGTGGCACCTCCATCCACCCAGTTATCAGACCAGGGGCAGACATGCACCCTTGATGTCTCTGCCCCTTCATCAGTCTTTTTCTTTTCTTTTCTTTTTGGA/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1555469452
|
|
1
|
1.000 |
0.120 |
16 |
28491481 |
splice donor variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386833710
|
|
1
|
1.000 |
0.120 |
16 |
28489288 |
splice donor variant
|
A/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386833741
|
|
1
|
1.000 |
0.120 |
16 |
28482309 |
splice donor variant
|
CCTCGCTCCTCTTACCAGCGGTATTGC/-
|
delins |
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs771788391
|
|
1
|
1.000 |
0.120 |
16 |
28482475 |
splice donor variant
|
A/T
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833740
|
|
2
|
0.925 |
0.120 |
16 |
28482344 |
frameshift variant
|
-/T
|
delins |
3.2E-05;
4.0E-06
|
|
0.700 |
1.000 |
3 |
1997 |
2013 |
rs386833712
|
|
1
|
1.000 |
0.120 |
16 |
28488651 |
frameshift variant
|
-/C
|
delins |
|
|
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 |
1 |
1997 |
1997 |
rs386833729
|
|
1
|
1.000 |
0.120 |
16 |
28486465 |
frameshift variant
|
CT/-
|
del |
|
|
0.700 |
1.000 |
1 |
1997 |
1997 |
rs1057516335
|
|
1
|
1.000 |
0.120 |
16 |
28484112 |
frameshift variant
|
-/A
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057517215
|
|
1
|
1.000 |
0.120 |
16 |
28488603 |
frameshift variant
|
AG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555467473
|
|
1
|
1.000 |
0.120 |
16 |
28477866 |
frameshift variant
|
-/A
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555469159
|
|
1
|
1.000 |
0.120 |
16 |
28489316 |
frameshift variant
|
-/G
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386833696
|
|
1
|
1.000 |
0.120 |
16 |
28482113 |
frameshift variant
|
G/-
|
delins |
|
|
0.700 |
|
0 |
|
|