Variant Results

or

Results for "COL4A3BP"

Variant Events: 35

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

COL4A3BP

AU116A

chr5:
74675192-74675192

T

C

exonic

De novo

synonymous SNV

NM_031361
NM_005713
NM_001130105

c.A1776G
c.A1854G
c.A2238G

p.A592A
p.A618A
p.A746A

9.815

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

COL4A3BP

DEASD_0027_001

chr5:
74721237-74721237

A

G

exonic

De novo

nonsynonymous SNV

NM_005713
NM_031361
NM_001130105

c.T544C
c.T544C
c.T928C

p.F182L
p.F182L
p.F310L

18.54

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

COL4A3BP

2-1166-003

chr5:
74748698-74748698

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL4A3BP

SSC12779

chr5:
74721285-74721285

T

C

exonic

De novo

nonsynonymous SNV

NM_005713
NM_031361
NM_001130105

c.A496G
c.A496G
c.A880G

p.T166A
p.T166A
p.T294A

19.53

-

Fu2022 E
Lim2017 E
Trost2022 G

COL4A3BP

AU3712302

chr5:
74708923-74708923

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL4A3BP

JASD_Fam0207

chr5:
74801861-74801861

A

C

exonic

De novo

nonsynonymous SNV

NM_005713
NM_031361
NM_001130105

c.T177G
c.T177G
c.T561G

p.D59E
p.D59E
p.D187E

11.95

-

Takata2018 E

COL4A3BP

74-0688

chr5:
74793290-74793290

T

C

intronic

De novo

-

Michaelson2012 G

COL4A3BP

2-1454-003

chr5:
74770568-74770568

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL4A3BP

REACH000586

chr5:
74782640-74782640

G

A

intronic

De novo

-

Trost2022 G

COL4A3BP

14-1011

chr5:
74764243-74764243

C

G

intronic

De novo

-

Trost2022 G

COL4A3BP

5-0034-003

chr5:
74765767-74765767

A

C

intronic

De novo

-

Trost2022 G

COL4A3BP

MSSNG00104-003

chr5:
74729475-74729475

A

G

intronic

De novo

-

Trost2022 G

COL4A3BP

5-5162-003

chr5:
74750360-74750360

A

G

intronic

De novo

-

Trost2022 G

COL4A3BP

2-1750-003

chr5:
74672264-74672264

T

C

intronic

De novo

-

Trost2022 G

COL4A3BP

MSSNG00342-004

chr5:
74691523-74691523

C

T

intronic

De novo

-

Trost2022 G

COL4A3BP

AU012803

chr5:
74699897-74699897

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL4A3BP

M17640

chr5:
74721309-74721309

G

A

exonic

Paternal, Unknown

nonsynonymous SNV

NM_005713
NM_031361
NM_001130105

c.C472T
c.C472T
c.C856T

p.R158C
p.R158C
p.R286C

34.0

-

Guo2018 T
Stessman2017 T
Wang2016 T

COL4A3BP

AU4060306

chr5:
74668177-74668177

A

G

UTR3

De novo

-

Yuen2017 G

COL4A3BP

GEA431

chr5:
74712811-74712811

C

T

exonic

De novo

nonsynonymous SNV

NM_005713
NM_031361
NM_001130105

c.G727A
c.G727A
c.G1111A

p.G243R
p.G243R
p.G371R

34.0

-

Fu2022 E

COL4A3BP

AU3760301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

COL4A3BP

2-1348-003

chr5:
74711200-74711200

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL4A3BP

Hu2022:51

chr5:
74712810-74712810

C

T

exonic

Unknown

nonsynonymous SNV

NM_005713
NM_031361
NM_001130105

c.G728A
c.G728A
c.G1112A

p.G243E
p.G243E
p.G371E

27.4

-

Hu2022 T

COL4A3BP

14679.p1

chr5:
74721285-74721285

T

C

exonic

De novo

nonsynonymous SNV

NM_005713
NM_031361
NM_001130105

c.A496G
c.A496G
c.A880G

p.T166A
p.T166A
p.T294A

19.53

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

COL4A3BP

mAGRE5309

chr5:
74807152-74807153

TG

T

exonic

Paternal

frameshift deletion

NM_001130105

c.264delC

p.P88fs

-

Cirnigliaro2023 G

COL4A3BP

AU4233301

chr5:
74688712-74688712

G

A

intronic

De novo

-

Yuen2017 G

COL4A3BP

381119

chr5:
74712795-74712795

A

G

exonic

Unknown

nonsynonymous SNV

NM_005713
NM_031361
NM_001130105

c.T743C
c.T743C
c.T1127C

p.F248S
p.F248S
p.F376S

28.5

-

Stessman2017 T

COL4A3BP

AU4306302

chr5:
74722910-74722910

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL4A3BP

Mahjani2021:14

chr5:
74722248-74722248

G

T

exonic

nonsynonymous SNV

NM_005713
NM_031361
NM_001130105

c.C404A
c.C404A
c.C788A

p.S135Y
p.S135Y
p.S263Y

29.6

-

Mahjani2021 E

COL4A3BP

1-0763-003

chr5:
74776661-74776661

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL4A3BP

AU4079302

chr5:
74713178-74713178

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

COL4A3BP

SP0055335

chr5:
74715278-74715278

G

GATGAA

intronic

De novo

-

Fu2022 E

COL4A3BP

2-1251-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

COL4A3BP

SP0016562

chr5:
74681777-74681777

T

C

exonic

De novo

nonsynonymous SNV

NM_031361
NM_005713
NM_001130105

c.A1289G
c.A1367G
c.A1751G

p.H430R
p.H456R
p.H584R

12.42

-

Fu2022 E
Zhou2022 GE

COL4A3BP

1-0383-003

chr5:
74725027-74725027

T

C

intronic

De novo

-

Yuen2017 G

COL4A3BP

SP0023805

chr5:
74754946-74754946

G

A

exonic

De novo

nonsynonymous SNV

NM_005713
NM_031361
NM_001130105

c.C292T
c.C292T
c.C676T

p.R98C
p.R98C
p.R226C

19.73

1.65E-5

Fu2022 E
Zhou2022 GE

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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