rs2229311
|
|
1
|
1.000 |
0.080 |
15 |
40407640 |
missense variant
|
G/A;C;T
|
snv |
2.8E-05;
1.6E-05;
4.0E-06
|
|
0.800 |
1.000 |
9 |
1998 |
2017 |
rs121434284
|
|
2
|
0.925 |
0.080 |
15 |
40405952 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
1.000 |
6 |
1991 |
2017 |
rs760822119
|
|
1
|
1.000 |
0.080 |
15 |
40416293 |
missense variant
|
T/C
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
6 |
1991 |
2017 |
rs34695403
|
|
1
|
1.000 |
0.080 |
15 |
40407639 |
missense variant
|
C/G;T
|
snv |
2.4E-05;
1.2E-05
|
|
0.700 |
1.000 |
3 |
2000 |
2007 |
rs786204427
|
|
1
|
1.000 |
0.080 |
15 |
40411257 |
splice acceptor variant
|
CA/GG
|
mnv |
|
|
0.700 |
1.000 |
3 |
2000 |
2011 |
rs786204613
|
|
1
|
1.000 |
0.080 |
15 |
40418168 |
frameshift variant
|
T/-
|
delins |
|
|
0.700 |
1.000 |
3 |
1991 |
2012 |
rs1555404784
|
|
1
|
1.000 |
0.080 |
15 |
40414888 |
splice acceptor variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
2 |
1998 |
2000 |
rs373594717
|
|
1
|
1.000 |
0.080 |
15 |
40405819 |
start lost
|
A/C;G;T
|
snv |
4.0E-06;
4.0E-06
|
|
0.700 |
1.000 |
2 |
1990 |
1992 |
rs771914739
|
|
1
|
1.000 |
0.080 |
15 |
40411258 |
splice acceptor variant
|
A/C;G
|
snv |
4.0E-06;
8.0E-06
|
|
0.700 |
1.000 |
2 |
2000 |
2007 |
rs1267969615
|
|
100
|
0.532 |
0.760 |
17 |
63490960 |
missense variant
|
T/C
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs1555405428
|
|
1
|
1.000 |
0.080 |
15 |
40418219 |
frameshift variant
|
GGCGGCTGGTCATCGGCAGAGCCTTCAA/-
|
delins |
|
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs6599230
|
|
1
|
1.000 |
0.080 |
3 |
38633221 |
synonymous variant
|
T/A;C
|
snv |
0.77
|
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs763422682
|
|
1
|
1.000 |
0.080 |
15 |
40418196 |
missense variant
|
T/C
|
snv |
8.0E-06
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs776015412
|
|
1
|
1.000 |
0.080 |
15 |
40410690 |
stop gained
|
C/T
|
snv |
1.2E-05
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs796051983
|
|
1
|
1.000 |
0.080 |
15 |
40415412 |
missense variant
|
C/T
|
snv |
8.0E-06
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1057516769
|
|
1
|
1.000 |
0.080 |
15 |
40413046 |
frameshift variant
|
-/T
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1057517043
|
|
1
|
1.000 |
0.080 |
15 |
40411554 |
splice acceptor variant
|
G/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057517056
|
|
1
|
1.000 |
0.080 |
15 |
40416076 |
splice acceptor variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057517379
|
|
1
|
1.000 |
0.080 |
15 |
40405929 |
frameshift variant
|
CG/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs1555403211
|
|
1
|
1.000 |
0.080 |
15 |
40407647 |
frameshift variant
|
-/ATGG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555403942
|
|
1
|
1.000 |
0.080 |
15 |
40410819 |
splice acceptor variant
|
ACACGCTAATCTCACAGTGCAACCACCAACTAAAAGATACCCTCTCCCCTTGGGGGCCAGTCAGACCTGCTTTCTGTAGCATGCTGCCATGAACCAAATGTGGTTAGGAAGGGGCCATGGATTGCTTTAAAATACTTGAGCCAAAAATAATAAAAATAGGACCAGAACTCTTGCATTGAACAACAGACAGACAACATTTGAAGAGAACTCTAAGAAATGGAAGAGTAGGACTAGCTTCCTTTGCAAAGGGAATGGAAAAAGGAGAGGCATTTTCAGCCTTGTAGCCATTGGGCTTAGAAGAGACTTCTAGGACTTTACCGACACCCTGGTCTGAGAGCGAAGTTTGAAGGGGTTTAATGTGGACAGGAAGAGGCAGTACCAGTGAGCTGCTCTAGGGTACTCTGAGGTTGTAACAAGGCCTGTTGGGGGTTTTCCTTGCAGCTGATCAGTGGTGAGTACATCGGAGCCCTGGCCATGAGTGAGCCCAATGCAGGC/GTTG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555404426
|
|
1
|
1.000 |
0.080 |
15 |
40413013 |
frameshift variant
|
-/T
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555405067
|
|
1
|
1.000 |
0.080 |
15 |
40416077 |
splice acceptor variant
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555405070
|
|
1
|
1.000 |
0.080 |
15 |
40416090 |
frameshift variant
|
A/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1555405080
|
|
1
|
1.000 |
0.080 |
15 |
40416109 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|