MSeqDR Master Exome Data Set M1: 100 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
1
10032156
G
A
ENST00000377205
ENSG00000173614
10003486
10045559
ENSP00000366410
NMNAT1
1
NMNA1_HUMAN
c.25G>A
p.V9M
non-syn
NA
-
-
lod=434:618
DAMAGING
P
-
het
2
2
1
10032156
G
A
ENST00000377205
ENSG00000173614
10003486
10045559
ENSP00000366410
NMNAT1
1
NMNA1_HUMAN
c.25G>A
p.V9M
non-syn
NA
-
-
lod=434:618
DAMAGING
P
-
hom
2
3
1
10032156
G
A
ENST00000403197
ENSG00000173614
10003486
10045559
ENSP00000385131
NMNAT1
1
-
c.25G>A
p.V9M
non-syn
NA
-
-
lod=434:618
DAMAGING
P
-
het
2
4
1
10032156
G
A
ENST00000403197
ENSG00000173614
10003486
10045559
ENSP00000385131
NMNAT1
1
-
c.25G>A
p.V9M
non-syn
NA
-
-
lod=434:618
DAMAGING
P
-
hom
2
5
1
10032156
G
A
ENST00000462686
ENSG00000173614
10003486
10045559
ENSP00000435134
NMNAT1
1
NMNA1_HUMAN
c.25G>A
p.V9M
non-syn
NA
-
-
lod=434:618
DAMAGING
P
-
het
2
6
1
10032156
G
A
ENST00000462686
ENSG00000173614
10003486
10045559
ENSP00000435134
NMNAT1
1
NMNA1_HUMAN
c.25G>A
p.V9M
non-syn
NA
-
-
lod=434:618
DAMAGING
P
-
hom
2
7
1
10032156
G
A
ENST00000492735
ENSG00000173614
10003486
10045559
-
NMNAT1
1
-
c.109G>A
p.V37M
non-syn
NA
-
-
lod=434:618
DAMAGING
P
-
het
2
8
1
10032156
G
A
ENST00000492735
ENSG00000173614
10003486
10045559
-
NMNAT1
1
-
c.109G>A
p.V37M
non-syn
NA
-
-
lod=434:618
DAMAGING
P
-
hom
2
9
1
10032207
A
G
ENST00000377205
ENSG00000173614
10003486
10045559
ENSP00000366410
NMNAT1
1
NMNA1_HUMAN
c.76A>G
p.R26G
non-syn
NA
-
-
lod=434:618
DAMAGING
D
-
het
3
10
1
10032207
A
G
ENST00000403197
ENSG00000173614
10003486
10045559
ENSP00000385131
NMNAT1
1
-
c.76A>G
p.R26G
non-syn
NA
-
-
lod=434:618
DAMAGING
D
-
het
3
11
1
10032207
A
G
ENST00000462686
ENSG00000173614
10003486
10045559
ENSP00000435134
NMNAT1
1
NMNA1_HUMAN
c.76A>G
p.R26G
non-syn
NA
-
-
lod=434:618
DAMAGING
D
-
het
3
12
1
10032207
A
G
ENST00000492735
ENSG00000173614
10003486
10045559
-
NMNAT1
1
-
c.160A>G
p.R54G
non-syn
NA
-
-
lod=434:618
DAMAGING
D
-
het
3
13
1
10032249
A
G
ENST00000377205
ENSG00000173614
10003486
10045559
ENSP00000366410
NMNAT1
1
NMNA1_HUMAN
-
-
+3bp 5'_splice_site
rs181504239
0.00186
G=46/A=8554;G=5/A=4401;G=51/A=12955
lod=434:618
-
-
-
het
7
14
1
10032249
A
G
ENST00000403197
ENSG00000173614
10003486
10045559
ENSP00000385131
NMNAT1
1
-
-
-
+3bp 5'_splice_site
rs181504239
0.00186
G=46/A=8554;G=5/A=4401;G=51/A=12955
lod=434:618
-
-
-
het
7
15
1
10032249
A
G
ENST00000462686
ENSG00000173614
10003486
10045559
ENSP00000435134
NMNAT1
1
NMNA1_HUMAN
-
-
+3bp 5'_splice_site
rs181504239
0.00186
G=46/A=8554;G=5/A=4401;G=51/A=12955
lod=434:618
-
-
-
het
7
16
1
10032249
A
G
ENST00000492735
ENSG00000173614
10003486
10045559
-
NMNAT1
1
-
c.202A>G
p.R68G
non-syn
rs181504239
0.00186
G=46/A=8554;G=5/A=4401;G=51/A=12955
lod=434:618
-
-
-
het
7
17
1
10032291
G
A
ENST00000492735
ENSG00000173614
10003486
10045559
-
NMNAT1
1
-
c.244G>A
p.G82R
non-syn
rs79685493
0.00854
A=212/G=8388;A=22/G=4384;A=234/G=12772
-
-
-
-
het
15
18
1
10032552
C
+AA
ENST00000492735
ENSG00000173614
10003486
10045559
-
NMNAT1
1
-
c.505_506insAA
p.Q169NA
non-syn
rs34232396
-
-
-
-
-
-
het
4
19
1
10032552
C
+A
ENST00000492735
ENSG00000173614
10003486
10045559
-
NMNAT1
1
-
c.505_506insA
p.Q169NA
non-syn
rs34232396
-
-
-
-
-
-
het
5
20
1
10035689
G
T
ENST00000377205
ENSG00000173614
10003486
10045559
ENSP00000366410
NMNAT1
1
NMNA1_HUMAN
c.155G>T
p.G52V
non-syn
NA
-
-
lod=41:366
DAMAGING
P
-
het
2
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