rs121912870
|
|
1
|
1.000 |
0.080 |
12 |
47975971 |
missense variant
|
C/T
|
snv |
|
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912874
|
|
14
|
0.716 |
0.400 |
12 |
47978329 |
missense variant
|
G/A
|
snv |
|
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912883
|
|
1
|
1.000 |
0.080 |
12 |
47976043 |
missense variant
|
C/G
|
snv |
|
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912886
|
|
2
|
0.925 |
0.080 |
12 |
47974090 |
missense variant
|
G/A;T
|
snv |
8.0E-05
|
|
0.800 |
1.000 |
8 |
1989 |
2001 |
rs121912867
|
|
2
|
0.925 |
0.080 |
12 |
47982142 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
1.000 |
8 |
1989 |
2001 |
rs121912879
|
|
2
|
0.925 |
0.080 |
12 |
47980017 |
missense variant
|
C/G
|
snv |
|
|
0.700 |
1.000 |
8 |
1989 |
2001 |
rs864621973
|
|
1
|
1.000 |
0.080 |
12 |
47977128 |
stop gained
|
C/A;T
|
snv |
4.1E-06
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs104894948
|
|
2
|
0.925 |
0.080 |
X |
13716080 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs104894949
|
|
1
|
1.000 |
0.080 |
X |
13714501 |
stop gained
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1193507525
|
|
3
|
0.925 |
0.080 |
12 |
47980616 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121912893
|
|
15
|
0.708 |
0.400 |
12 |
47983721 |
stop gained
|
G/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs122460156
|
|
1
|
1.000 |
0.080 |
X |
13714439 |
stop gained
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1316347883
|
|
4
|
0.851 |
0.080 |
10 |
72007935 |
missense variant
|
G/A;C
|
snv |
6.9E-06
|
|
0.700 |
|
0 |
|
|
rs1555164872
|
|
1
|
1.000 |
0.080 |
12 |
47975961 |
splice acceptor variant
|
ACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1555167783
|
|
1
|
1.000 |
0.080 |
12 |
47989236 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1565664095
|
|
1
|
1.000 |
0.080 |
12 |
47973418 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1565679062
|
|
1
|
1.000 |
0.080 |
12 |
47983410 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs587776748
|
|
1
|
1.000 |
0.080 |
X |
13719910 |
frameshift variant
|
AA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587776749
|
|
1
|
1.000 |
0.080 |
X |
13716580 |
frameshift variant
|
CA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587776750
|
|
1
|
1.000 |
0.080 |
X |
13716614 |
frameshift variant
|
AT/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs587776751
|
|
1
|
1.000 |
0.080 |
X |
13716053 |
frameshift variant
|
GTCTT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587776752
|
|
1
|
1.000 |
0.080 |
X |
13719866 |
splice region variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs587776753
|
|
1
|
1.000 |
0.080 |
X |
13716530 |
splice region variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs587776754
|
|
1
|
1.000 |
0.080 |
X |
13714443 |
frameshift variant
|
T/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs587777330
|
|
1
|
1.000 |
0.080 |
X |
13716098 |
non coding transcript exon variant
|
TTA/-
|
delins |
|
|
0.700 |
|
0 |
|
|