Variant Results

or

Results for "CAD"

Variant Events: 14

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

CAD

13439.p1

chr2:
27445812-27445812

T

C

exonic

De novo

nonsynonymous SNV

NM_001306079
NM_004341

c.T716C
c.T716C

p.V239A
p.V239A

7.444

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

CAD

11076.p1

chr2:
27464741-27464741

C

T

intronic

De novo

-

Satterstrom2020 E

CAD

19991-31601

chr2:
27445090-27445091

GT

G

exonic

frameshift deletion

NM_001306079
NM_004341

c.382delT
c.382delT

p.L128fs
p.L128fs

-

Callaghan2019 G

CAD

35961

chr2:
27455388-27455388

T

G

exonic

De novo

synonymous SNV

NM_001306079
NM_004341

c.T2529G
c.T2718G

p.V843V
p.V906V

-

Fu2022 E
Trost2022 G

CAD

2-1246-003

chr2:
27464413-27464413

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CAD

SP0051596

chr2:
27455341-27455341

C

T

exonic

De novo

nonsynonymous SNV

NM_001306079
NM_004341

c.C2482T
c.C2671T

p.R828C
p.R891C

18.88

8.241E-6

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

CAD

4-0023-004

chr2:
27453360-27453360

G

A

intronic

De novo

-

Trost2022 G

CAD

Lim2017:35961

chr2:
27455388-27455388

T

G

exonic

De novo

synonymous SNV

NM_001306079
NM_004341

c.T2529G
c.T2718G

p.V843V
p.V906V

-

Lim2017 E

CAD

SSC07542

chr2:
27445812-27445812

T

C

exonic

De novo

nonsynonymous SNV

NM_001306079
NM_004341

c.T716C
c.T716C

p.V239A
p.V239A

7.444

-

Fu2022 E
Lim2017 E
Trost2022 G

CAD

PN400144

chr2:
27456981-27456981

A

AC

exonic

Unknown

frameshift insertion

NM_001306079
NM_004341

c.3317dupC
c.3506dupC

p.T1106fs
p.T1169fs

-

1.0E-4

Leblond2019 E

CAD

13613.p1

chr2:
27455388-27455388

T

G

exonic

De novo

synonymous SNV

NM_001306079
NM_004341

c.T2529G
c.T2718G

p.V843V
p.V906V

-

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

CAD

13649.p1

chr2:
27474549-27474549

A

G

intergenic

De novo

-

Turner2016 G

CAD

1-0147-003

chr2:
27467230-27467230

A

C

downstream

De novo

-

Trost2022 G

CAD

SSC00278

chr2:
27464741-27464741

C

T

intronic

De novo

-

Trost2022 G

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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