rs1569548274 |
|
0.701 |
0.520 |
X |
154030553 |
splice acceptor variant
|
TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-
|
delins
|
|
|
43
|
rs28934906 |
|
0.716 |
0.320 |
X |
154031355 |
missense variant
|
G/A
|
snv
|
|
|
40
|
rs28934907 |
|
0.732 |
0.320 |
X |
154032268 |
missense variant
|
G/A;C
|
snv
|
|
|
29
|
rs267608327 |
|
0.763 |
0.200 |
X |
154030631 |
splice acceptor variant
|
CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-
|
delins
|
|
|
25
|
rs61750240 |
|
0.752 |
0.240 |
X |
154031020 |
stop gained
|
G/A;C
|
snv
|
5.5E-06
|
|
17
|
rs61749721 |
|
0.732 |
0.200 |
X |
154031065 |
stop gained
|
G/A
|
snv
|
|
|
15
|
rs28935468 |
|
0.732 |
0.240 |
X |
154030912 |
missense variant
|
G/A
|
snv
|
|
|
14
|
rs28934908 |
|
0.732 |
0.280 |
X |
154031409 |
missense variant
|
G/A;T
|
snv
|
5.5E-06
|
|
12
|
rs61752992 |
|
0.807 |
0.120 |
X |
154030621 |
splice acceptor variant
|
TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/-
|
delins
|
|
|
9
|
rs61749715 |
|
0.851 |
0.120 |
X |
154031154 |
missense variant
|
G/A;C
|
snv
|
|
|
8
|
rs61751362 |
|
0.790 |
0.160 |
X |
154030948 |
stop gained
|
G/A;C
|
snv
|
1.6E-05
|
|
8
|
rs61750241 |
|
0.807 |
0.080 |
X |
154031022 |
frameshift variant
|
C/-
|
delins
|
|
|
7
|
rs179363900 |
|
0.807 |
0.080 |
X |
154031374 |
missense variant
|
G/C
|
snv
|
5.5E-06
|
1.9E-05
|
6
|
rs61748421 |
|
0.807 |
0.200 |
X |
154031326 |
stop gained
|
G/A;T
|
snv
|
|
|
6
|
rs1557134621 |
|
0.827 |
0.120 |
X |
154030106 |
splice acceptor variant
|
CCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG/-
|
delins
|
|
|
5
|
rs267608463 |
|
0.925 |
0.120 |
X |
154032206 |
splice donor variant
|
C/A;T
|
snv
|
|
|
5
|
rs28934904 |
|
0.776 |
0.200 |
X |
154031431 |
missense variant
|
G/A;C;T
|
snv
|
|
|
5
|
rs1557135315 |
|
0.851 |
0.080 |
X |
154030627 |
splice acceptor variant
|
GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/-
|
delins
|
|
|
4
|
rs1557136818 |
|
0.925 |
0.120 |
X |
154031259 |
missense variant
|
C/T
|
snv
|
|
|
4
|
rs61748396 |
|
0.882 |
0.080 |
X |
154031405 |
stop gained
|
G/C;T
|
snv
|
|
|
4
|
rs61751444 |
|
0.882 |
0.080 |
X |
154030903 |
missense variant
|
G/A
|
snv
|
|
|
4
|
rs267608426 |
|
0.882 |
0.080 |
X |
154032473 |
frameshift variant
|
TCTT/-
|
delins
|
|
|
3
|
rs61751443 |
|
0.925 |
0.080 |
X |
154030911 |
missense variant
|
C/A;G;T
|
snv
|
|
|
3
|
rs63749748 |
|
0.882 |
0.080 |
X |
154030628 |
splice acceptor variant
|
TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/-
|
delins
|
|
|
3
|
rs1557135793 |
|
0.925 |
0.080 |
X |
154030691 |
frameshift variant
|
G/-;GG
|
delins
|
|
|
2
|