MSeqDR Master Exome Data Set M1: 64 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
M
14149
C
T
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.525G>A
p.*175*
syn
NA
-
-
-
-
-
-
hom
2
2
M
14162
G
A
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.512C>T
p.A171V
non-syn
NA
-
-
-
-
-
-
hom
1
3
M
14167
C
T
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.507G>A
p.E169E
syn
rs28357670
-
-
-
-
-
-
hom
64
4
M
14178
T
C
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.496A>G
p.I166V
non-syn
rs113046720
-
-
lod=13:243
-
-
-
hom
6
5
M
14179
A
G
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.495T>C
p.T165T
syn
NA
-
-
lod=13:243
-
-
-
hom
3
6
M
14179
A
G
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.495T>C
p.T165T
syn
NA
-
-
lod=13:243
-
-
-
het
1
7
M
14180
T
C
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.494A>G
p.T165C
non-syn
NA
-
-
lod=13:243
-
-
-
hom
9
8
M
14181
A
G
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.493T>C
p.T165H
non-syn
NA
-
-
lod=13:243
-
-
-
hom
2
9
M
14182
T
C
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.492A>G
p.V164V
syn
rs77660156
-
-
lod=13:243
-
-
-
hom
19
10
M
14193
A
G
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.481T>C
p.F161L
non-syn
NA
-
-
-
-
-
-
hom
4
11
M
14198
G
A
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.476C>T
p.T159M
non-syn
NA
-
-
-
-
-
-
hom
1
12
M
14200
T
C
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.474A>G
p.W158W
syn
NA
-
-
-
-
-
-
hom
1
13
M
14203
A
G
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.471T>C
p.G157G
syn
rs34657896
-
-
lod=17:272
-
-
-
hom
2
14
M
14210
A
G
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.464T>C
p.V155A
non-syn
NA
-
-
-
-
-
-
hom
2
15
M
14212
T
C
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.462A>G
p.V154V
syn
rs112362416
-
-
-
-
-
-
hom
13
16
M
14221
T
C
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.453A>G
p.W151W
syn
NA
-
-
-
-
-
-
hom
1
17
M
14233
A
G
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.441T>C
p.D147D
syn
rs113063030
-
-
-
-
-
-
hom
50
18
M
14256
T
C
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.418A>G
p.I140V
non-syn
NA
-
-
-
-
-
-
hom
1
19
M
14257
A
G
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.417T>C
p.P139P
syn
NA
-
-
-
-
-
-
hom
1
20
M
14284
C
T
ENST00000361681
ENSG00000198695
14149
14673
ENSP00000354665
MT-ND6
-1
NU6M_HUMAN
c.390G>A
p.E130E
syn
rs112717028
-
-
-
-
-
-
hom
2
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