rs1566687487
|
|
1
|
|
|
14 |
54902537 |
frameshift variant
|
-/G
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs267606670
|
|
19
|
0.790 |
0.320 |
19 |
41968837 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs267606826
|
|
38
|
0.708 |
0.520 |
14 |
28767903 |
stop gained
|
C/A;G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs34757931
|
|
26
|
0.742 |
0.360 |
11 |
119081189 |
missense variant
|
T/G
|
snv |
1.2E-04
|
5.6E-05
|
0.700 |
|
0 |
|
|
rs374052333
|
|
27
|
0.763 |
0.320 |
3 |
132671032 |
stop gained
|
C/G;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs398122845
|
|
2
|
1.000 |
0.080 |
X |
41524036 |
splice acceptor variant
|
T/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs45471299
|
|
2
|
1.000 |
0.040 |
11 |
2164339 |
missense variant
|
G/A
|
snv |
4.0E-05
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs515726205
|
|
7
|
0.882 |
0.040 |
19 |
29702966 |
missense variant
|
C/T
|
snv |
2.4E-05
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs74315442
|
|
10
|
0.851 |
0.200 |
21 |
43774297 |
stop gained
|
G/A
|
snv |
4.0E-05
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs752746786
|
|
30
|
0.742 |
0.560 |
1 |
1806503 |
missense variant
|
A/C;G;T
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs754609693
|
|
3
|
0.925 |
0.040 |
10 |
133366967 |
missense variant
|
G/A
|
snv |
1.6E-05
|
1.4E-05
|
0.700 |
|
0 |
|
|
rs786205861
|
|
3
|
1.000 |
0.120 |
19 |
12896913 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs796052505
|
|
57
|
0.724 |
0.440 |
5 |
162095551 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs80356537
|
|
17
|
0.752 |
0.320 |
19 |
41970405 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs869025221
|
|
5
|
0.925 |
0.080 |
3 |
25593603 |
missense variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs869025222
|
|
9
|
0.827 |
0.240 |
3 |
25580574 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs878853161
|
|
7
|
0.851 |
0.240 |
1 |
42929977 |
frameshift variant
|
AT/-
|
del |
|
|
0.700 |
|
0 |
|
|
rs80358233
|
|
2
|
1.000 |
0.080 |
9 |
129814062 |
inframe deletion
|
CTC/-
|
delins |
|
4.9E-05
|
0.700 |
1.000 |
2 |
1997 |
1998 |
rs104894442
|
|
3
|
1.000 |
0.040 |
14 |
54844023 |
missense variant
|
C/G
|
snv |
4.0E-06
|
|
0.010 |
1.000 |
1 |
1999 |
1999 |
rs80358259
|
|
9
|
0.851 |
0.320 |
18 |
23536736 |
missense variant
|
A/G
|
snv |
2.0E-04
|
2.4E-04
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs121917747
|
|
2
|
1.000 |
0.200 |
2 |
72891502 |
stop gained
|
A/T
|
snv |
8.0E-05
|
5.6E-05
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs121908683
|
|
5
|
0.925 |
0.080 |
22 |
38115667 |
missense variant
|
G/A
|
snv |
9.0E-06
|
2.1E-05
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs1269252748
|
|
4
|
|
|
9 |
2641436 |
missense variant
|
C/T
|
snv |
|
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs267606695
|
|
5
|
1.000 |
0.160 |
8 |
60266044 |
missense variant
|
A/C;G
|
snv |
|
|
0.010 |
1.000 |
1 |
2009 |
2009 |