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 |
|
|
rs386833700
|
|
1
|
1.000 |
0.120 |
16 |
28491502 |
stop gained
|
C/T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833705
|
|
1
|
1.000 |
0.120 |
16 |
28489387 |
splice acceptor variant
|
C/T
|
snv |
4.2E-06
|
|
0.700 |
|
0 |
|
|
rs386833706
|
|
1
|
1.000 |
0.120 |
16 |
28477565 |
stop gained
|
G/A;T
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833707
|
|
1
|
1.000 |
0.120 |
16 |
28477561 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs386833708
|
|
1
|
1.000 |
0.120 |
16 |
28491759 |
start lost
|
T/C;G
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833710
|
|
1
|
1.000 |
0.120 |
16 |
28489288 |
splice donor variant
|
A/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386833711
|
|
1
|
1.000 |
0.120 |
16 |
28489285 |
splice region variant
|
C/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386833713
|
|
1
|
1.000 |
0.120 |
16 |
28488620 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386833715
|
|
1
|
1.000 |
0.120 |
16 |
28487665 |
frameshift variant
|
-/A
|
delins |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833716
|
|
1
|
1.000 |
0.120 |
16 |
28487662 |
missense variant
|
C/T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs386833717
|
|
2
|
0.925 |
0.160 |
16 |
28487537 |
splice acceptor variant
|
G/-;GGG
|
delins |
4.0E-06
|
|
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 |
|
|
rs386833722
|
|
1
|
1.000 |
0.120 |
16 |
28486651 |
splice acceptor variant
|
C/G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386833723
|
|
1
|
1.000 |
0.120 |
16 |
28486639 |
missense variant
|
C/G;T
|
snv |
4.2E-06
|
|
0.700 |
|
0 |
|
|
rs386833724
|
|
1
|
1.000 |
0.120 |
16 |
28486629 |
stop gained
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs386833725
|
|
1
|
1.000 |
0.120 |
16 |
28486626 |
stop gained
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|