MSeqDR Master Exome Data Set M1: 181 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
5
126112738
T
A
ENST00000460265
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
c.424T>A
p.W142R
non-syn
NA
-
-
lod=43:371
-
-
-
het
1
2
5
126112825
G
A
ENST00000460265
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
c.511G>A
p.A171T
non-syn
NA
-
-
-
-
-
-
het
5
3
5
126112903
G
T
ENST00000261366
ENSG00000113368
126112315
126172712
ENSP00000261366
LMNB1
1
LMNB1_HUMAN
-
-
5'_UTR
rs111865788
0.0716
-
-
-
-
-
het
69
4
5
126112903
G
T
ENST00000261366
ENSG00000113368
126112315
126172712
ENSP00000261366
LMNB1
1
LMNB1_HUMAN
-
-
5'_UTR
rs111865788
0.0716
-
-
-
-
-
hom
5
5
5
126112903
G
T
ENST00000395354
ENSG00000113368
126112315
126172712
ENSP00000378761
LMNB1
1
-
-
-
5'_UTR
rs111865788
0.0716
-
-
-
-
-
het
69
6
5
126112903
G
T
ENST00000395354
ENSG00000113368
126112315
126172712
ENSP00000378761
LMNB1
1
-
-
-
5'_UTR
rs111865788
0.0716
-
-
-
-
-
hom
5
7
5
126112903
G
T
ENST00000460265
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
c.589G>T
p.V197F
non-syn
rs111865788
0.0716
-
-
-
-
-
het
69
8
5
126112903
G
T
ENST00000460265
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
c.589G>T
p.V197F
non-syn
rs111865788
0.0716
-
-
-
-
-
hom
5
9
5
126112903
G
T
ENST00000472034
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
c.51G>T
p.Q17H
non-syn
rs111865788
0.0716
-
-
-
-
-
het
69
10
5
126112903
G
T
ENST00000472034
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
c.51G>T
p.Q17H
non-syn
rs111865788
0.0716
-
-
-
-
-
hom
5
11
5
126112903
G
T
ENST00000492190
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
c.51G>T
p.Q17H
non-syn
rs111865788
0.0716
-
-
-
-
-
het
69
12
5
126112903
G
T
ENST00000492190
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
c.51G>T
p.Q17H
non-syn
rs111865788
0.0716
-
-
-
-
-
hom
5
13
5
126112903
G
T
ENST00000504788
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
c.59G>T
p.S20I
non-syn
rs111865788
0.0716
-
-
-
-
-
het
69
14
5
126112903
G
T
ENST00000504788
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
c.59G>T
p.S20I
non-syn
rs111865788
0.0716
-
-
-
-
-
hom
5
15
5
126113036
A
-GCT
ENST00000261366
ENSG00000113368
126112315
126172712
ENSP00000261366
LMNB1
1
LMNB1_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
3
16
5
126113036
A
-GCT
ENST00000395354
ENSG00000113368
126112315
126172712
ENSP00000378761
LMNB1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
3
17
5
126113036
A
-GCT
ENST00000460265
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
c.723_725del
p.E241NA
non-syn
NA
-
-
-
-
-
-
het
3
18
5
126113036
A
-GCT
ENST00000492190
ENSG00000113368
126112315
126172712
-
LMNB1
1
-
-
-
-14bp 3'_splice_site
NA
-
-
-
-
-
-
het
3
19
5
126113098
G
C
ENST00000261366
ENSG00000113368
126112315
126172712
ENSP00000261366
LMNB1
1
LMNB1_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
20
5
126113098
G
C
ENST00000395354
ENSG00000113368
126112315
126172712
ENSP00000378761
LMNB1
1
-
-
-
5'_UTR
NA
-
-
-
-
-
-
het
2
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