MSeqDR Master Exome Data Set M1: 36 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
4
68605369
A
G
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
rs17635850
0.40758
-
-
-
-
-
hom
122
2
4
68605369
A
G
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
rs17635850
0.40758
-
-
-
-
-
het
304
3
4
68605389
G
A
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
rs35683646
0.23699
-
-
-
-
-
het
238
4
4
68605389
G
A
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
rs35683646
0.23699
-
-
-
-
-
hom
38
5
4
68605396
C
G
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
rs35610027
0.24299
-
-
-
-
-
het
238
6
4
68605396
C
G
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
rs35610027
0.24299
-
-
-
-
-
hom
38
7
4
68605471
A
G
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
8
4
68605556
G
A
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
9
4
68605615
T
C
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
rs35845954
0.23626
-
-
-
-
-
hom
37
10
4
68605615
T
C
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
rs35845954
0.23626
-
-
-
-
-
het
238
11
4
68605619
T
G
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
12
4
68605703
A
G
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
rs115861964
0.00841
-
-
-
-
-
het
13
13
4
68605813
T
C
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
rs111894416
0.0099
-
-
-
-
-
het
1
14
4
68606120
C
T
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
3'_UTR
rs58921483
0.0084
-
-
-
-
-
het
1
15
4
68610519
T
-A
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
-
-
-14bp 3'_splice_site
NA
-
-
-
-
-
-
het
1
16
4
68619601
G
A
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
c.453C>T
p.S151S
syn
rs4986942
0.08595
A=853/G=7747;A=466/G=3940;A=1319/G=11687
-
-
-
-
het
167
17
4
68619601
G
A
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
c.453C>T
p.S151S
syn
rs4986942
0.08595
A=853/G=7747;A=466/G=3940;A=1319/G=11687
-
-
-
-
hom
2
18
4
68619601
G
A
ENST00000420975
ENSG00000109163
68605046
68620078
ENSP00000397561
GNRHR
-1
GNRHR_HUMAN
c.453C>T
p.S151S
syn
rs4986942
0.08595
A=853/G=7747;A=466/G=3940;A=1319/G=11687
-
-
-
-
het
167
19
4
68619601
G
A
ENST00000420975
ENSG00000109163
68605046
68620078
ENSP00000397561
GNRHR
-1
GNRHR_HUMAN
c.453C>T
p.S151S
syn
rs4986942
0.08595
A=853/G=7747;A=466/G=3940;A=1319/G=11687
-
-
-
-
hom
2
20
4
68619618
G
A
ENST00000226413
ENSG00000109163
68605046
68620078
ENSP00000226413
GNRHR
-1
GNRHR_HUMAN
c.436C>T
p.P146S
non-syn
rs144900788
-
A=6/G=8594;A=0/G=4406;A=6/G=13000
lod=39:361
DAMAGING
D
HGMD
het
3
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