rs1131691014 |
|
0.439 |
0.800 |
17 |
7676154 |
frameshift variant
|
-/C
|
ins
|
|
|
214
|
rs371194629 |
|
0.790 |
0.320 |
6 |
29830804 |
3 prime UTR variant
|
-/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT
|
ins
|
|
|
8
|
rs3917 |
|
0.925 |
0.160 |
7 |
94431047 |
3 prime UTR variant
|
-/GCTGTCC;GTTG;GTTGTCC;GTTGTGC
|
ins
|
|
|
3
|
rs878854066 |
|
0.439 |
0.800 |
17 |
7676153 |
missense variant
|
GG/AC
|
mnv
|
|
|
213
|
rs386656364 |
|
0.807 |
0.160 |
2 |
233682328 |
missense variant
|
CG/AA
|
mnv
|
|
|
8
|
rs3834129 |
|
0.627 |
0.560 |
2 |
201232809 |
upstream gene variant
|
AGTAAG/-
|
del
|
|
0.48
|
38
|
rs771314938 |
|
0.807 |
0.160 |
2 |
233682328 |
frameshift variant
|
CG/-
|
del
|
|
|
8
|
rs16405 |
|
0.882 |
0.120 |
10 |
101553963 |
3 prime UTR variant
|
AACAGTGGA/-
|
del
|
|
0.31
|
4
|
rs587776627 |
|
1.000 |
0.080 |
16 |
309973 |
frameshift variant
|
GGGAATGTGAGGTAGGGGCACCCGCCCATTGA/-
|
del
|
|
|
1
|
rs28362491 |
|
0.592 |
0.720 |
4 |
102500998 |
non coding transcript exon variant
|
ATTG/-
|
delins
|
|
|
56
|
rs145204276 |
|
0.658 |
0.320 |
1 |
173868254 |
splice donor variant
|
CAAGG/-
|
delins
|
|
8.8E-02
|
31
|
rs3783553 |
|
0.667 |
0.480 |
2 |
112774138 |
3 prime UTR variant
|
-/TGAA
|
delins
|
|
|
26
|
rs72613567 |
|
0.742 |
0.320 |
4 |
87310240 |
splice donor variant
|
-/A
|
delins
|
0.22
|
|
14
|
rs879625015 |
|
0.807 |
0.160 |
2 |
233682328 |
frameshift variant
|
CG/A
|
delins
|
|
|
8
|
rs1054690270 |
|
0.827 |
0.160 |
8 |
144505907 |
frameshift variant
|
CT/-
|
delins
|
|
|
5
|
rs1064793929 |
|
0.882 |
0.280 |
17 |
7675167 |
frameshift variant
|
A/-;AA
|
delins
|
|
|
5
|
rs28381975 |
|
0.827 |
0.200 |
3 |
33798239 |
intron variant
|
-/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA
|
delins
|
|
|
5
|
rs56228771 |
|
0.827 |
0.200 |
22 |
40410091 |
3 prime UTR variant
|
-/GTCT;GTCTGTCT
|
delins
|
|
|
5
|
rs6147150 |
|
0.827 |
0.160 |
2 |
211380365 |
3 prime UTR variant
|
-/AAAATAGGATTG
|
delins
|
|
|
5
|
rs41557518 |
|
0.925 |
0.080 |
6 |
29828658 |
frameshift variant
|
C/-
|
delins
|
|
2.9E-02
|
2
|
rs57408770 |
|
1.000 |
0.080 |
2 |
219058688 |
non coding transcript exon variant
|
-/AAG
|
delins
|
|
|
2
|
rs587776802 |
|
1.000 |
0.080 |
3 |
179234358 |
frameshift variant
|
-/A
|
delins
|
|
|
2
|
rs112395617 |
|
1.000 |
0.080 |
1 |
64833868 |
3 prime UTR variant
|
-/TTAA;TTAATTAA
|
delins
|
|
|
1
|
rs1553631896 |
|
1.000 |
0.080 |
3 |
41233836 |
frameshift variant
|
-/A
|
delins
|
|
|
1
|
rs1554043088 |
|
1.000 |
0.080 |
5 |
1294548 |
frameshift variant
|
-/C
|
delins
|
|
|
1
|