MSeqDR Master Exome Data Set M1: 166 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
14
55308770
C
A
ENST00000254299
ENSG00000131979
55308726
55369570
-
GCH1
-1
-
c.2866G>T
p.V956L
non-syn
rs6572984
1
-
-
-
-
-
hom
184
2
14
55308770
C
A
ENST00000254299
ENSG00000131979
55308726
55369570
-
GCH1
-1
-
c.2866G>T
p.V956L
non-syn
rs6572984
1
-
-
-
-
-
het
2
3
14
55308770
C
A
ENST00000395514
ENSG00000131979
55308726
55369570
ENSP00000378890
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
rs6572984
1
-
-
-
-
-
hom
184
4
14
55308770
C
A
ENST00000395514
ENSG00000131979
55308726
55369570
ENSP00000378890
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
rs6572984
1
-
-
-
-
-
het
2
5
14
55308770
C
A
ENST00000491895
ENSG00000131979
55308726
55369570
ENSP00000419045
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
rs6572984
1
-
-
-
-
-
hom
184
6
14
55308770
C
A
ENST00000491895
ENSG00000131979
55308726
55369570
ENSP00000419045
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
rs6572984
1
-
-
-
-
-
het
2
7
14
55308770
C
A
ENST00000536224
ENSG00000131979
55308726
55369570
ENSP00000445246
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
rs6572984
1
-
-
-
-
-
hom
184
8
14
55308770
C
A
ENST00000536224
ENSG00000131979
55308726
55369570
ENSP00000445246
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
rs6572984
1
-
-
-
-
-
het
2
9
14
55308770
C
A
ENST00000543643
ENSG00000131979
55308726
55369570
ENSP00000444011
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
rs6572984
1
-
-
-
-
-
hom
184
10
14
55308770
C
A
ENST00000543643
ENSG00000131979
55308726
55369570
ENSP00000444011
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
rs6572984
1
-
-
-
-
-
het
2
11
14
55309009
G
-AAC
ENST00000254299
ENSG00000131979
55308726
55369570
-
GCH1
-1
-
c.2624_2626del
p.S876NA
non-syn
NA
-
-
-
-
-
-
het
1
12
14
55309009
G
-AAC
ENST00000395514
ENSG00000131979
55308726
55369570
ENSP00000378890
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
13
14
55309009
G
-AAC
ENST00000491895
ENSG00000131979
55308726
55369570
ENSP00000419045
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
14
14
55309009
G
-AAC
ENST00000536224
ENSG00000131979
55308726
55369570
ENSP00000445246
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
15
14
55309009
G
-AAC
ENST00000543643
ENSG00000131979
55308726
55369570
ENSP00000444011
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
16
14
55309048
A
G
ENST00000254299
ENSG00000131979
55308726
55369570
-
GCH1
-1
-
c.2588T>C
p.L863S
non-syn
NA
-
-
lod=13:243
-
-
-
hom
1
17
14
55309048
A
G
ENST00000395514
ENSG00000131979
55308726
55369570
ENSP00000378890
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
hom
1
18
14
55309048
A
G
ENST00000491895
ENSG00000131979
55308726
55369570
ENSP00000419045
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
hom
1
19
14
55309048
A
G
ENST00000536224
ENSG00000131979
55308726
55369570
ENSP00000445246
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
hom
1
20
14
55309048
A
G
ENST00000543643
ENSG00000131979
55308726
55369570
ENSP00000444011
GCH1
-1
GCH1_HUMAN
-
-
3'_UTR
NA
-
-
lod=13:243
-
-
-
hom
1
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