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MSeqDR Master Exome Data Set M1: 911 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
X
153576961
G
C
ENST00000360319
ENSG00000196924
153576892
153603006
ENSP00000353467
FLNA
-1
FLNA_HUMAN
-
-
3'_UTR
rs139999810
0.0087
-
-
-
-
-
het
1
2
X
153576961
G
C
ENST00000420627
ENSG00000196924
153576892
153603006
ENSP00000408921
FLNA
-1
-
-
-
3'_UTR
rs139999810
0.0087
-
-
-
-
-
het
1
3
X
153576961
G
C
ENST00000422373
ENSG00000196924
153576892
153603006
ENSP00000416926
FLNA
-1
FLNA_HUMAN
-
-
3'_UTR
rs139999810
0.0087
-
-
-
-
-
het
1
4
X
153576961
G
C
ENST00000498411
ENSG00000196924
153576892
153603006
-
FLNA
-1
-
c.305C>G
p.P102R
non-syn
rs139999810
0.0087
-
-
-
-
-
het
1
5
X
153577028
C
T
ENST00000360319
ENSG00000196924
153576892
153603006
ENSP00000353467
FLNA
-1
FLNA_HUMAN
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
het
1
6
X
153577028
C
T
ENST00000360319
ENSG00000196924
153576892
153603006
ENSP00000353467
FLNA
-1
FLNA_HUMAN
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
hom
1
7
X
153577028
C
T
ENST00000369850
ENSG00000196924
153576892
153603006
ENSP00000358866
FLNA
-1
FLNA_HUMAN
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
het
1
8
X
153577028
C
T
ENST00000369850
ENSG00000196924
153576892
153603006
ENSP00000358866
FLNA
-1
FLNA_HUMAN
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
hom
1
9
X
153577028
C
T
ENST00000369856
ENSG00000196924
153576892
153603006
ENSP00000358872
FLNA
-1
-
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
het
1
10
X
153577028
C
T
ENST00000369856
ENSG00000196924
153576892
153603006
ENSP00000358872
FLNA
-1
-
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
hom
1
11
X
153577028
C
T
ENST00000420627
ENSG00000196924
153576892
153603006
ENSP00000408921
FLNA
-1
-
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
het
1
12
X
153577028
C
T
ENST00000420627
ENSG00000196924
153576892
153603006
ENSP00000408921
FLNA
-1
-
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
hom
1
13
X
153577028
C
T
ENST00000422373
ENSG00000196924
153576892
153603006
ENSP00000416926
FLNA
-1
FLNA_HUMAN
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
het
1
14
X
153577028
C
T
ENST00000422373
ENSG00000196924
153576892
153603006
ENSP00000416926
FLNA
-1
FLNA_HUMAN
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
hom
1
15
X
153577028
C
T
ENST00000490936
ENSG00000196924
153576892
153603006
-
FLNA
-1
-
c.5362G>A
p.A1788T
non-syn
NA
-
-
lod=13:243
-
-
-
het
1
16
X
153577028
C
T
ENST00000490936
ENSG00000196924
153576892
153603006
-
FLNA
-1
-
c.5362G>A
p.A1788T
non-syn
NA
-
-
lod=13:243
-
-
-
hom
1
17
X
153577028
C
T
ENST00000498411
ENSG00000196924
153576892
153603006
-
FLNA
-1
-
c.238G>A
p.A80T
non-syn
NA
-
-
lod=13:243
-
-
-
het
1
18
X
153577028
C
T
ENST00000498411
ENSG00000196924
153576892
153603006
-
FLNA
-1
-
c.238G>A
p.A80T
non-syn
NA
-
-
lod=13:243
-
-
-
hom
1
19
X
153577072
T
G
ENST00000360319
ENSG00000196924
153576892
153603006
ENSP00000353467
FLNA
-1
FLNA_HUMAN
-
-
3'_UTR
NA
-
-
lod=24:309
DAMAGING
-
-
het
1
20
X
153577072
T
G
ENST00000369850
ENSG00000196924
153576892
153603006
ENSP00000358866
FLNA
-1
FLNA_HUMAN
-
-
3'_UTR
NA
-
-
lod=24:309
DAMAGING
-
-
het
1
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