low density lipoprotein receptor-related protein 4 [Source:HGNC Symbol;Acc:6696]
11
46878419
46940193
-1
p11.2
46878419
46940173
LRP4
LRP4-001
HGNC Symbol
HGNC transcript name
5
48.69
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
4038
6696
LRP4
NM_002334
27504
MSeqDR Master Exome Data Set M1: 170 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
11
46878430
G
C
ENST00000378623
ENSG00000134569
46878419
46940193
ENSP00000367888
LRP4
-1
LRP4_HUMAN
-
-
3'_UTR
rs7928628
0.0664
-
lod=1286:734
-
-
-
het
6
2
11
46878430
G
C
ENST00000529604
ENSG00000134569
46878419
46940193
-
LRP4
-1
-
c.2765C>G
p.A922G
non-syn
rs7928628
0.0664
-
lod=1286:734
-
-
-
het
6
3
11
46878684
C
T
ENST00000378623
ENSG00000134569
46878419
46940193
ENSP00000367888
LRP4
-1
LRP4_HUMAN
-
-
3'_UTR
rs2306034
0.0186
-
-
-
-
-
het
1
4
11
46878684
C
T
ENST00000529604
ENSG00000134569
46878419
46940193
-
LRP4
-1
-
c.2511G>A
p.L837L
syn
rs2306034
0.0186
-
-
-
-
-
het
1
5
11
46878707
T
-AC
ENST00000378623
ENSG00000134569
46878419
46940193
ENSP00000367888
LRP4
-1
LRP4_HUMAN
-
-
3'_UTR
rs147363340
-
-
-
-
-
-
het
9
6
11
46878707
T
-AC
ENST00000529604
ENSG00000134569
46878419
46940193
-
LRP4
-1
-
c.2486_2487del
p.S829NA
non-syn
rs147363340
-
-
-
-
-
-
het
9
7
11
46878729
G
A
ENST00000378623
ENSG00000134569
46878419
46940193
ENSP00000367888
LRP4
-1
LRP4_HUMAN
-
-
3'_UTR
rs6485701
0.99907
-
-
-
-
-
hom
658
8
11
46878729
G
A
ENST00000378623
ENSG00000134569
46878419
46940193
ENSP00000367888
LRP4
-1
LRP4_HUMAN
-
-
3'_UTR
rs6485701
0.99907
-
-
-
-
-
het
1
9
11
46878729
G
A
ENST00000529604
ENSG00000134569
46878419
46940193
-
LRP4
-1
-
c.2466C>T
p.H822H
syn
rs6485701
0.99907
-
-
-
-
-
hom
658
10
11
46878729
G
A
ENST00000529604
ENSG00000134569
46878419
46940193
-
LRP4
-1
-
c.2466C>T
p.H822H
syn
rs6485701
0.99907
-
-
-
-
-
het
1
11
11
46878854
T
G
ENST00000378623
ENSG00000134569
46878419
46940193
ENSP00000367888
LRP4
-1
LRP4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
12
11
46878854
T
G
ENST00000529604
ENSG00000134569
46878419
46940193
-
LRP4
-1
-
c.2341A>C
p.R781R
syn
NA
-
-
-
-
-
-
het
3
13
11
46879089
T
C
ENST00000378623
ENSG00000134569
46878419
46940193
ENSP00000367888
LRP4
-1
LRP4_HUMAN
-
-
3'_UTR
rs75558883
0.0302
-
-
-
-
-
het
28
14
11
46879089
T
C
ENST00000378623
ENSG00000134569
46878419
46940193
ENSP00000367888
LRP4
-1
LRP4_HUMAN
-
-
3'_UTR
rs75558883
0.0302
-
-
-
-
-
hom
3
15
11
46879089
T
C
ENST00000529604
ENSG00000134569
46878419
46940193
-
LRP4
-1
-
c.2106A>G
p.*702*
syn
rs75558883
0.0302
-
-
-
-
-
het
28
16
11
46879089
T
C
ENST00000529604
ENSG00000134569
46878419
46940193
-
LRP4
-1
-
c.2106A>G
p.*702*
syn
rs75558883
0.0302
-
-
-
-
-
hom
3
17
11
46879129
C
-CA
ENST00000378623
ENSG00000134569
46878419
46940193
ENSP00000367888
LRP4
-1
LRP4_HUMAN
-
-
3'_UTR
NA
-
-
lod=22:300
-
-
-
het
1
18
11
46879129
C
-CA
ENST00000529604
ENSG00000134569
46878419
46940193
-
LRP4
-1
-
c.2064_2065del
p.G689NA
non-syn
NA
-
-
lod=22:300
-
-
-
het
1
19
11
46879308
C
G
ENST00000378623
ENSG00000134569
46878419
46940193
ENSP00000367888
LRP4
-1
LRP4_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
20
11
46879308
C
G
ENST00000529604
ENSG00000134569
46878419
46940193
-
LRP4
-1
-
c.1887G>C
p.W629C
non-syn
NA
-
-
-
-
-
-
het
1
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