rs1559470315
|
|
26
|
0.732 |
0.320 |
3 |
41227287 |
protein altering variant
|
CCACAAGCAG/T
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1562846694
|
|
32
|
0.763 |
0.320 |
7 |
100643252 |
inframe deletion
|
TTCGCTCCACGCACT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1563686762
|
|
16
|
0.790 |
0.280 |
8 |
116847620 |
inframe deletion
|
GTT/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs796052243
|
|
54
|
0.695 |
0.520 |
4 |
122934574 |
inframe deletion
|
CAA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs875989800
|
|
33
|
0.732 |
0.480 |
22 |
23833670 |
inframe deletion
|
AGA/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1352010373
|
|
73
|
0.641 |
0.560 |
17 |
75489265 |
splice acceptor variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554699491
|
|
23
|
0.763 |
0.280 |
9 |
85596450 |
splice acceptor variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1163944538
|
|
73
|
0.641 |
0.560 |
17 |
75494905 |
frameshift variant
|
-/A
|
delins |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1553212868
|
|
17
|
0.807 |
0.280 |
1 |
151406264 |
frameshift variant
|
G/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1554110735
|
|
13
|
0.776 |
0.200 |
6 |
10398693 |
frameshift variant
|
TT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555727493
|
|
46
|
0.742 |
0.480 |
19 |
35718020 |
frameshift variant
|
-/GGCGGGCGGCGGC
|
delins |
|
|
0.700 |
|
0 |
|
|
rs770374710
|
|
87
|
0.611 |
0.560 |
15 |
23645747 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs780631499
|
|
23
|
0.763 |
0.280 |
9 |
85588465 |
frameshift variant
|
G/-
|
del |
4.0E-06
|
7.0E-06
|
0.700 |
|
0 |
|
|
rs80338903
|
|
25
|
0.701 |
0.360 |
1 |
216247095 |
frameshift variant
|
C/-
|
del |
7.6E-04
|
5.4E-04
|
0.700 |
|
0 |
|
|
rs886041065
|
|
43
|
0.677 |
0.600 |
2 |
25743913 |
frameshift variant
|
G/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs886043994
|
|
21
|
0.776 |
0.400 |
20 |
32433355 |
frameshift variant
|
GT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555649483
|
|
12
|
0.851 |
0.200 |
17 |
67909751 |
splice donor variant
|
GAAGGACCAAGG/-
|
del |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1553621496
|
|
53
|
0.677 |
0.440 |
2 |
209976305 |
splice donor variant
|
T/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
|
44
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant
|
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs397515789
|
|
10
|
0.776 |
0.240 |
15 |
48488112 |
splice donor variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554700718
|
|
59
|
0.658 |
0.360 |
9 |
83975540 |
non coding transcript exon variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs121908557
|
|
23
|
0.752 |
0.280 |
17 |
63957514 |
missense variant
|
C/T
|
snv |
8.2E-06
|
1.4E-05
|
0.700 |
1.000 |
2 |
2004 |
2008 |
rs1269636220
|
|
5
|
0.851 |
0.280 |
10 |
120865109 |
missense variant
|
A/G
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1306416169
|
|
5
|
0.851 |
0.280 |
9 |
137453808 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1487309678
|
|
5
|
0.851 |
0.280 |
7 |
84014246 |
missense variant
|
C/T
|
snv |
8.0E-06
|
|
0.010 |
1.000 |
1 |
2015 |
2015 |