rs386833714
|
|
1
|
1.000 |
0.120 |
16 |
28487734 |
missense variant
|
A/G
|
snv |
|
|
0.800 |
1.000 |
4 |
1997 |
2012 |
rs386833727
|
|
1
|
1.000 |
0.120 |
16 |
28486602 |
missense variant
|
A/G
|
snv |
|
|
0.800 |
1.000 |
4 |
1997 |
2012 |
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 |
rs386833712
|
|
1
|
1.000 |
0.120 |
16 |
28488651 |
frameshift variant
|
-/C
|
delins |
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs386833729
|
|
1
|
1.000 |
0.120 |
16 |
28486465 |
frameshift variant
|
CT/-
|
del |
|
|
0.700 |
1.000 |
1 |
1997 |
1997 |
rs1057516267
|
|
1
|
1.000 |
0.120 |
16 |
28482326 |
splice donor variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057516335
|
|
1
|
1.000 |
0.120 |
16 |
28484112 |
frameshift variant
|
-/A
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057516343
|
|
1
|
1.000 |
0.120 |
16 |
28491713 |
splice donor variant
|
C/G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057516677
|
|
2
|
0.925 |
0.120 |
16 |
28477875 |
stop gained
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057517215
|
|
1
|
1.000 |
0.120 |
16 |
28488603 |
frameshift variant
|
AG/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057517287
|
|
1
|
1.000 |
0.120 |
16 |
28486346 |
splice donor variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057517350
|
|
1
|
1.000 |
0.120 |
16 |
28482673 |
splice acceptor variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1418997146
|
|
1
|
1.000 |
0.120 |
16 |
28482200 |
splice acceptor variant
|
T/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1478660606
|
|
1
|
1.000 |
0.120 |
16 |
28487743 |
splice acceptor variant
|
T/G
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1555467473
|
|
1
|
1.000 |
0.120 |
16 |
28477866 |
frameshift variant
|
-/A
|
delins |
|
|
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 |
|
|
rs1555469089
|
|
1
|
1.000 |
0.120 |
16 |
28488663 |
splice acceptor variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555469159
|
|
1
|
1.000 |
0.120 |
16 |
28489316 |
frameshift variant
|
-/G
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555469452
|
|
1
|
1.000 |
0.120 |
16 |
28491481 |
splice donor variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555469477
|
|
1
|
1.000 |
0.120 |
16 |
28491561 |
splice acceptor variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386833696
|
|
1
|
1.000 |
0.120 |
16 |
28482113 |
frameshift variant
|
G/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386833698
|
|
2
|
0.925 |
0.120 |
16 |
28482102 |
splice region variant
|
T/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386833699
|
|
1
|
1.000 |
0.120 |
16 |
28482105 |
missense variant
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|