MSeqDR Master Exome Data Set M1: 392 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
19362058
C
T
ENST00000379806
ENSG00000131828
19362011
19379823
ENSP00000369134
PDHA1
1
ODPA_HUMAN
-
-
5'_UTR
rs192773464
0.0017
-
-
-
-
-
het
1
2
X
19362058
C
T
ENST00000417819
ENSG00000131828
19362011
19379823
ENSP00000404616
PDHA1
1
-
-
-
5'_UTR
rs192773464
0.0017
-
-
-
-
-
het
1
3
X
19362058
C
T
ENST00000422285
ENSG00000131828
19362011
19379823
ENSP00000394382
PDHA1
1
ODPA_HUMAN
-
-
5'_UTR
rs192773464
0.0017
-
-
-
-
-
het
1
4
X
19362058
C
T
ENST00000423505
ENSG00000131828
19362011
19379823
ENSP00000406473
PDHA1
1
-
-
-
5'_UTR
rs192773464
0.0017
-
-
-
-
-
het
1
5
X
19362058
C
T
ENST00000492364
ENSG00000131828
19362011
19379823
-
PDHA1
1
-
c.5C>T
p.A2V
non-syn
rs192773464
0.0017
-
-
-
-
-
het
1
6
X
19362058
C
T
ENST00000540249
ENSG00000131828
19362011
19379823
ENSP00000440761
PDHA1
1
ODPA_HUMAN
-
-
5'_UTR
rs192773464
0.0017
-
-
-
-
-
het
1
7
X
19362058
C
T
ENST00000545074
ENSG00000131828
19362011
19379823
ENSP00000438550
PDHA1
1
ODPA_HUMAN
-
-
5'_UTR
rs192773464
0.0017
-
-
-
-
-
het
1
8
X
19362068
G
A
ENST00000355808
ENSG00000131828
19362011
19379823
ENSP00000348062
PDHA1
1
-
-
-
5'_UTR
rs5955751
0.0553
-
-
-
-
-
het
29
9
X
19362068
G
A
ENST00000355808
ENSG00000131828
19362011
19379823
ENSP00000348062
PDHA1
1
-
-
-
5'_UTR
rs5955751
0.0553
-
-
-
-
-
hom
19
10
X
19362068
G
A
ENST00000379806
ENSG00000131828
19362011
19379823
ENSP00000369134
PDHA1
1
ODPA_HUMAN
-
-
5'_UTR
rs5955751
0.0553
-
-
-
-
-
het
29
11
X
19362068
G
A
ENST00000379806
ENSG00000131828
19362011
19379823
ENSP00000369134
PDHA1
1
ODPA_HUMAN
-
-
5'_UTR
rs5955751
0.0553
-
-
-
-
-
hom
19
12
X
19362068
G
A
ENST00000417819
ENSG00000131828
19362011
19379823
ENSP00000404616
PDHA1
1
-
-
-
5'_UTR
rs5955751
0.0553
-
-
-
-
-
het
29
13
X
19362068
G
A
ENST00000417819
ENSG00000131828
19362011
19379823
ENSP00000404616
PDHA1
1
-
-
-
5'_UTR
rs5955751
0.0553
-
-
-
-
-
hom
19
14
X
19362068
G
A
ENST00000422285
ENSG00000131828
19362011
19379823
ENSP00000394382
PDHA1
1
ODPA_HUMAN
-
-
5'_UTR
rs5955751
0.0553
-
-
-
-
-
het
29
15
X
19362068
G
A
ENST00000422285
ENSG00000131828
19362011
19379823
ENSP00000394382
PDHA1
1
ODPA_HUMAN
-
-
5'_UTR
rs5955751
0.0553
-
-
-
-
-
hom
19
16
X
19362068
G
A
ENST00000423505
ENSG00000131828
19362011
19379823
ENSP00000406473
PDHA1
1
-
-
-
5'_UTR
rs5955751
0.0553
-
-
-
-
-
het
29
17
X
19362068
G
A
ENST00000423505
ENSG00000131828
19362011
19379823
ENSP00000406473
PDHA1
1
-
-
-
5'_UTR
rs5955751
0.0553
-
-
-
-
-
hom
19
18
X
19362068
G
A
ENST00000492364
ENSG00000131828
19362011
19379823
-
PDHA1
1
-
c.15G>A
p.L5L
syn
rs5955751
0.0553
-
-
-
-
-
het
29
19
X
19362068
G
A
ENST00000492364
ENSG00000131828
19362011
19379823
-
PDHA1
1
-
c.15G>A
p.L5L
syn
rs5955751
0.0553
-
-
-
-
-
hom
19
20
X
19362068
G
A
ENST00000540249
ENSG00000131828
19362011
19379823
ENSP00000440761
PDHA1
1
ODPA_HUMAN
-
-
5'_UTR
rs5955751
0.0553
-
-
-
-
-
het
29
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