rs770374710
|
|
87
|
0.611 |
0.560 |
15 |
23645747 |
frameshift variant
|
G/-;GG
|
delins |
|
|
0.700 |
|
0 |
|
|
rs79184941
|
|
41
|
0.617 |
0.600 |
10 |
121520163 |
missense variant
|
G/A;C
|
snv |
5.6E-05;
4.0E-06
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
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 |
|
|
rs1276519904
|
|
63
|
0.645 |
0.520 |
1 |
226071445 |
missense variant
|
A/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs77543610
|
|
28
|
0.667 |
0.560 |
10 |
121520160 |
missense variant
|
G/C
|
snv |
|
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs80338796
|
|
37
|
0.667 |
0.480 |
3 |
12604200 |
missense variant
|
G/A;C
|
snv |
4.0E-06
|
|
0.700 |
|
0 |
|
|
rs1553621496
|
|
53
|
0.677 |
0.440 |
2 |
209976305 |
splice donor variant
|
T/G
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1554888939
|
|
58
|
0.683 |
0.640 |
9 |
137798823 |
missense variant
|
G/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1057519389
|
|
46
|
0.695 |
0.400 |
10 |
129957324 |
missense variant
|
C/A;G;T
|
snv |
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1557043622
|
|
46
|
0.695 |
0.400 |
X |
48909843 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs1555743003
|
|
58
|
0.701 |
0.520 |
18 |
33740444 |
splice donor variant
|
G/A
|
snv |
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1569548274
|
|
43
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs765379963
|
|
19
|
0.701 |
0.520 |
1 |
165743172 |
stop gained
|
G/A
|
snv |
1.2E-05
|
2.1E-05
|
0.700 |
|
0 |
|
|
rs1569509136
|
|
24
|
0.708 |
0.400 |
X |
53647576 |
splice acceptor variant
|
T/C
|
snv |
|
|
0.700 |
|
0 |
|
|
rs267606826
|
|
38
|
0.708 |
0.520 |
14 |
28767903 |
stop gained
|
C/A;G;T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs387907144
|
|
34
|
0.716 |
0.600 |
6 |
157181056 |
stop gained
|
C/A;T
|
snv |
|
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs1085307993
|
|
53
|
0.716 |
0.440 |
5 |
161331056 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs137854539
|
|
28
|
0.716 |
0.520 |
20 |
58903703 |
missense variant
|
C/T
|
snv |
|
|
0.700 |
|
0 |
|
|
rs1555462347
|
|
34
|
0.716 |
0.520 |
16 |
8901028 |
frameshift variant
|
CT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs1564045331
|
|
35
|
0.716 |
0.320 |
9 |
97687208 |
inframe deletion
|
ATTCTT/-
|
delins |
|
|
0.700 |
|
0 |
|
|
rs778543124
|
|
35
|
0.716 |
0.320 |
9 |
97675476 |
frameshift variant
|
AGTCTTACGGTACA/-
|
delins |
6.8E-05
|
6.3E-05
|
0.700 |
|
0 |
|
|
rs121909574
|
|
17
|
0.724 |
0.400 |
6 |
10404509 |
missense variant
|
T/A;C;G
|
snv |
4.6E-06
|
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1564919048
|
|
23
|
0.732 |
0.280 |
10 |
121520106 |
missense variant
|
C/A
|
snv |
|
|
0.700 |
|
0 |
|
|
rs28934907
|
|
30
|
0.732 |
0.320 |
X |
154032268 |
missense variant
|
G/A;C
|
snv |
|
|
0.700 |
|
0 |
|
|