collagen, type IV, alpha 5 [Source:HGNC Symbol;Acc:2207]
X
107683074
107940775
1
q22.3
107683074
107686321
COL4A5
COL4A5-004
HGNC Symbol
HGNC transcript name
10
35.75
protein_coding
processed_transcript
ensembl_hava
havana
KNOWN
KNOWN
1287
2207
COL4A5
27516
MSeqDR Master Exome Data Set M1: 225 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
X
107683109
G
C
ENST00000477429
ENSG00000188153
107683074
107940775
-
COL4A5
1
-
c.36G>C
p.W12C
non-syn
rs140079506
0.0048
-
lod=24:309
-
-
-
het
2
2
X
107683175
C
-CTT
ENST00000328300
ENSG00000188153
107683074
107940775
ENSP00000331902
COL4A5
1
CO4A5_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
3
3
X
107683175
C
-CTT
ENST00000361603
ENSG00000188153
107683074
107940775
ENSP00000354505
COL4A5
1
CO4A5_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
3
4
X
107683175
C
-CTT
ENST00000470339
ENSG00000188153
107683074
107940775
-
COL4A5
1
-
c.5_7del
p.P2NA
non-syn
NA
-
-
-
-
-
-
het
3
5
X
107683175
C
-CTT
ENST00000477429
ENSG00000188153
107683074
107940775
-
COL4A5
1
-
c.103_105del
p.L35NA
non-syn
NA
-
-
-
-
-
-
het
3
6
X
107683188
C
-T
ENST00000328300
ENSG00000188153
107683074
107940775
ENSP00000331902
COL4A5
1
CO4A5_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
7
X
107683188
C
-T
ENST00000328300
ENSG00000188153
107683074
107940775
ENSP00000331902
COL4A5
1
CO4A5_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
hom
1
8
X
107683188
C
+T
ENST00000328300
ENSG00000188153
107683074
107940775
ENSP00000331902
COL4A5
1
CO4A5_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
hom
1
9
X
107683188
C
+T
ENST00000328300
ENSG00000188153
107683074
107940775
ENSP00000331902
COL4A5
1
CO4A5_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
10
X
107683188
C
-T
ENST00000361603
ENSG00000188153
107683074
107940775
ENSP00000354505
COL4A5
1
CO4A5_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
11
X
107683188
C
-T
ENST00000361603
ENSG00000188153
107683074
107940775
ENSP00000354505
COL4A5
1
CO4A5_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
hom
1
12
X
107683188
C
+T
ENST00000361603
ENSG00000188153
107683074
107940775
ENSP00000354505
COL4A5
1
CO4A5_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
hom
1
13
X
107683188
C
+T
ENST00000361603
ENSG00000188153
107683074
107940775
ENSP00000354505
COL4A5
1
CO4A5_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
1
14
X
107683188
C
+T
ENST00000470339
ENSG00000188153
107683074
107940775
-
COL4A5
1
-
c.17_18insT
p.S6NA
non-syn
NA
-
-
-
-
-
-
hom
1
15
X
107683188
C
+T
ENST00000470339
ENSG00000188153
107683074
107940775
-
COL4A5
1
-
c.17_18insT
p.S6NA
non-syn
NA
-
-
-
-
-
-
het
1
16
X
107683188
C
-T
ENST00000470339
ENSG00000188153
107683074
107940775
-
COL4A5
1
-
c.18_18del
p.S6NA
non-syn
NA
-
-
-
-
-
-
het
1
17
X
107683188
C
-T
ENST00000470339
ENSG00000188153
107683074
107940775
-
COL4A5
1
-
c.18_18del
p.S6NA
non-syn
NA
-
-
-
-
-
-
hom
1
18
X
107683188
C
+T
ENST00000477429
ENSG00000188153
107683074
107940775
-
COL4A5
1
-
c.115_116insT
p.L39NA
non-syn
NA
-
-
-
-
-
-
hom
1
19
X
107683188
C
+T
ENST00000477429
ENSG00000188153
107683074
107940775
-
COL4A5
1
-
c.115_116insT
p.L39NA
non-syn
NA
-
-
-
-
-
-
het
1
20
X
107683188
C
-T
ENST00000477429
ENSG00000188153
107683074
107940775
-
COL4A5
1
-
c.116_116del
p.L39NA
non-syn
NA
-
-
-
-
-
-
het
1
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