MSeqDR Master Exome Data Set M1: 47 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
1167796
C
T
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.138C>T
p.S46S
syn
rs190796582
0.0899
-
-
-
-
-
het
1
2
1
1168094
C
T
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.436C>T
p.H146Y
non-syn
NA
-
-
lod=421:615
DAMAGING
P
-
het
1
3
1
1168141
G
A
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.483G>A
p.A161A
syn
NA
-
A=3/G=8269;A=0/G=4188;A=3/G=12457
lod=134:493
-
-
-
het
1
4
1
1168143
G
A
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.485G>A
p.R162Q
non-syn
NA
-
A=3/G=8243;A=0/G=4184;A=3/G=12427
lod=134:493
DAMAGING
D
-
het
1
5
1
1168180
G
C
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.522G>C
p.E174D
non-syn
rs12085009
0.1857
C=146/G=6572;C=625/G=2661;C=771/G=9233
lod=156:509
TOLERATED
B
-
hom
7
6
1
1168180
G
C
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.522G>C
p.E174D
non-syn
rs12085009
0.1857
C=146/G=6572;C=625/G=2661;C=771/G=9233
lod=156:509
TOLERATED
B
-
het
74
7
1
1168205
T
+G
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.547_548insG
p.W183NA
non-syn
NA
-
-
lod=156:509
-
-
-
het
2
8
1
1168239
C
+G
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.581_582insG
p.P194NA
non-syn
NA
-
-
lod=32:340
-
-
-
het
1
9
1
1168262
G
A
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.604G>A
p.A202T
non-syn
NA
-
A=1/G=7019;A=0/G=3490;A=1/G=10509
lod=330:589
TOLERATED
B
-
het
1
10
1
1168290
C
T
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.632C>T
p.P211L
non-syn
NA
-
-
lod=330:589
DAMAGING
D
-
het
2
11
1
1168401
G
C
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.743G>C
p.W248S
non-syn
NA
-
-
lod=205:538
DAMAGING
D
-
het
1
12
1
1168411
G
A
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.753G>A
p.P251P
syn
NA
-
A=3/G=8115;A=0/G=4040;A=3/G=12155
-
-
-
-
het
4
13
1
1168491
C
T
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.833C>T
p.T278M
non-syn
NA
-
-
lod=144:500
DAMAGING
P
-
het
1
14
1
1168567
G
A
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
c.909G>A
p.E303E
syn
NA
-
A=0/G=7928;A=9/G=3995;A=9/G=11923
lod=213:542
-
-
-
het
1
15
1
1168843
C
T
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
-
-
3'_UTR
rs148754856
0.0085
-
-
-
-
-
het
18
16
1
1169094
G
C
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
-
-
3'_UTR
rs45574035
0.0276
-
-
-
-
-
het
25
17
1
1169096
G
A
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
-
-
3'_UTR
rs150830153
0.00097
-
-
-
-
-
het
1
18
1
1169117
G
A
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
19
1
1169120
C
T
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
-
-
3'_UTR
rs139603821
0.001
-
-
-
-
-
het
3
20
1
1169264
T
G
ENST00000379198
ENSG00000176022
1167629
1170421
ENSP00000368496
B3GALT6
1
B3GT6_HUMAN
-
-
3'_UTR
rs144527217
0.0086
-
-
-
-
-
het
6
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