rs1131692272
|
|
9
|
0.851 |
0.240 |
2 |
100006808 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs374993554
|
|
3
|
0.925 |
|
7 |
100113899 |
missense variant
|
A/G;T
|
snv |
3.2E-05
|
|
0.700 |
|
0 |
|
|
rs758946412
|
|
12
|
0.790 |
0.240 |
X |
100407507 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1562846694
|
|
32
|
0.763 |
0.320 |
7 |
100643252 |
inframe deletion
|
TTCGCTCCACGCACT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1131692228
|
|
5
|
0.925 |
0.160 |
7 |
100646637 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1060499738
|
|
2
|
1.000 |
|
7 |
100647014 |
missense variant
|
C/T
|
snv |
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs1553920383
|
|
3
|
0.925 |
|
4 |
101032350 |
frameshift variant
|
TC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs786203986
|
|
3
|
0.925 |
|
13 |
101176371 |
missense variant
|
G/A;C
|
snv |
4.3E-06
|
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1555268712
|
|
3
|
0.882 |
0.160 |
12 |
101757459 |
coding sequence variant
|
-/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1060499687
|
|
3
|
0.882 |
0.160 |
12 |
101757657 |
splice acceptor variant
|
GC/AT
|
mnv |
|
|
0.700 |
|
0 |
|
|
rs1060499739
|
|
2
|
1.000 |
|
3 |
101757754 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057518776
|
|
4
|
0.925 |
0.080 |
14 |
101986027 |
missense variant
|
T/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1064796765
|
|
19
|
0.763 |
0.240 |
14 |
102002950 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1567010427
|
|
11
|
0.882 |
|
14 |
102010824 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057518961
|
|
5
|
0.925 |
0.040 |
14 |
102012450 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs200345816
|
|
3
|
0.925 |
0.040 |
7 |
102283048 |
missense variant
|
C/G;T
|
snv |
6.0E-05;
4.0E-06
|
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs866294686
|
|
43
|
0.683 |
0.480 |
10 |
102657073 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs750371878
|
|
4
|
0.925 |
|
6 |
104796666 |
stop gained
|
G/A
|
snv |
4.0E-06
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs1562927768
|
|
15
|
0.790 |
0.080 |
7 |
105101476 |
frameshift variant
|
AAAGA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
|
44
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant
|
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs374319146
|
|
6
|
0.851 |
0.080 |
4 |
106194717 |
splice donor variant
|
C/A;T
|
snv |
4.3E-06;
8.7E-06
|
|
0.700 |
|
0 |
|
|
rs398122855
|
|
5
|
0.882 |
0.240 |
X |
107642384 |
missense variant
|
G/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs80338848
|
|
6
|
0.851 |
0.240 |
7 |
107675051 |
missense variant
|
T/C
|
snv |
2.7E-04
|
3.4E-04
|
0.700 |
|
0 |
|
|
rs111033212
|
|
4
|
0.851 |
0.240 |
7 |
107689054 |
missense variant
|
T/A;C
|
snv |
4.0E-06;
8.6E-04
|
|
0.700 |
|
0 |
|
|
rs397514513
|
|
4
|
0.882 |
0.080 |
4 |
107945426 |
missense variant
|
A/T
|
snv |
|
|
0.700 |
|
0 |
|
|