Variant Results

or

or

Results for "CPVL"

Variant Events: 20

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

CPVL

7-0128-003

chr7:
29169251-29169251

A

C

intronic

De novo

-

-

Trost2022 G

CPVL

14642.p1

chr7:
29180982-29180982

A

G

intronic

De novo

-

-

Turner2016 G

CPVL

SP0043538

chr7:
29152460-29152460

A

G

intronic

De novo

-

-

Fu2022 E

CPVL

2-0323-003

chr7:
29136587-29136591

CGAGA

TCTCG

intronic

De novo

-

-

Trost2022 G

CPVL

5-0022-003

chr7:
29138695-29138696

TA

T

intronic

De novo

-

-

Trost2022 G

CPVL

14642.p1

chr7:
29180994-29180994

C

T

intronic

De novo

-

-

Turner2016 G

CPVL

MSSNG00008-004

chr7:
29128332-29128332

C

T

intronic

De novo

-

-

Trost2022 G

CPVL

1023

chr7:
29132702-29132702

C

T

intronic

De novo

-

-

Trost2022 G

CPVL

14642.p1

chr7:
29180984-29180984

A

G

intronic

De novo

-

-

Turner2016 G

CPVL

SP0000226

chr7:
29152364-29152364

T

C

exonic

De novo

nonsynonymous SNV

NM_019029
NM_031311

c.A244G
c.A244G

p.K82E
p.K82E

9.288

Trost2022 G
Zhou2022 GE

CPVL

AU2320301

chr7:
29106785-29106785

G

C

intronic

De novo

-

-

Trost2022 G

CPVL

14642.p1

chr7:
29180987-29180987

G

A

intronic

De novo

-

-

Turner2016 G

CPVL

7-0352-003

chr7:
29117135-29117135

A

G

intronic

De novo

-

-

Trost2022 G

CPVL

AU024105

chr7:
29141080-29141080

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPVL

AU3506303

chr7:
29135354-29135354

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CPVL

3-0833-000

chr7:
29076887-29076887

G

A

intronic

De novo

-

-

Trost2022 G

CPVL

3-0052-000

chr7:
29088777-29088777

A

C

intronic

De novo

-

-

Trost2022 G

CPVL

mAGRE5321

chr7:
29152318-29152318

A

G

splicing

Maternal

splicing

12.0

Cirnigliaro2023 G

CPVL

2-1090-003

chr7:
29055132-29055132

G

A

intronic

De novo

-

-

Trost2022 G

CPVL

2-1254-003

chr7:
29164394-29164394

T

C

intronic

De novo

-

-

Yuen2016 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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