rs770374710
|
|
87
|
0.611 |
0.560 |
15 |
23645747 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs104894229
|
|
73
|
0.564 |
0.600 |
11 |
534289 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
5 |
2006 |
2012 |
rs1163944538
|
|
73
|
0.641 |
0.560 |
17 |
75494905 |
frameshift variant
|
-/A
|
delins |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1352010373
|
|
73
|
0.641 |
0.560 |
17 |
75489265 |
splice acceptor variant
|
G/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs61753219
|
|
64
|
0.672 |
0.400 |
6 |
42978330 |
missense variant
|
G/A
|
snv |
3.6E-05
|
2.8E-05
|
0.700 |
1.000 |
8 |
1996 |
2016 |
rs1276519904
|
|
63
|
0.645 |
0.520 |
1 |
226071445 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
1.000 |
12 |
1997 |
2015 |
rs1555743003
|
|
58
|
0.701 |
0.520 |
18 |
33740444 |
splice donor variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs886040971
|
|
56
|
0.683 |
0.280 |
8 |
115604339 |
stop gained
|
G/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1085307993
|
|
53
|
0.716 |
0.440 |
5 |
161331056 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs199469465
|
|
50
|
0.672 |
0.560 |
16 |
30737343 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs28934906
|
|
46
|
0.716 |
0.320 |
X |
154031355 |
missense variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
19 |
1993 |
2016 |
rs1057519389
|
|
46
|
0.695 |
0.400 |
10 |
129957324 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
8 |
2009 |
2017 |
rs1557043622
|
|
46
|
0.695 |
0.400 |
X |
48909843 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1554317002
|
|
45
|
0.724 |
0.440 |
7 |
39950821 |
frameshift variant
|
C/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1560755661
|
|
44
|
0.701 |
0.480 |
4 |
106171094 |
splice donor variant
|
CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs780533096
|
|
44
|
0.701 |
0.600 |
13 |
23886338 |
missense variant
|
C/G;T
|
snv |
4.8E-06;
9.6E-06
|
|
0.700 |
|
0 |
|
|
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs866294686
|
|
43
|
0.683 |
0.480 |
10 |
102657073 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs886041065
|
|
43
|
0.677 |
0.600 |
2 |
25743913 |
frameshift variant
|
G/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs61755320
|
|
41
|
0.716 |
0.520 |
16 |
89546737 |
missense variant
|
C/T
|
snv |
2.9E-03
|
3.5E-03
|
0.700 |
|
0 |
|
|
rs587784347
|
|
38
|
0.742 |
0.280 |
22 |
38113561 |
missense variant
|
G/A
|
snv |
8.0E-06
|
|
0.700 |
|
0 |
|
|
rs80338796
|
|
37
|
0.667 |
0.480 |
3 |
12604200 |
missense variant
|
G/A;C
|
snv |
4.0E-06
|
|
0.700 |
1.000 |
15 |
2006 |
2016 |
rs334
|
|
35
|
0.724 |
0.240 |
11 |
5227002 |
missense variant
|
T/A;C;G
|
snv |
3.5E-03
|
|
0.700 |
1.000 |
7 |
1975 |
2013 |
rs180177035
|
|
35
|
0.752 |
0.280 |
7 |
140801502 |
missense variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1060505041
|
|
34
|
0.716 |
0.400 |
19 |
13136099 |
missense variant
|
C/A;T
|
snv |
|
|
0.700 |
1.000 |
3 |
2014 |
2017 |