Variant Results

or

Results for "BMPER"

Variant Events: 45

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

BMPER

AU1698301

chr7:
34032963-34032963

G

A

intronic

De novo

-

Yuen2017 G

BMPER

1-0272-003

chr7:
34056394-34056394

A

AT

intronic

De novo

-

Trost2022 G
Yuen2017 G

BMPER

AU4263304

chr7:
34198262-34198262

C

A

intergenic

De novo

-

Yuen2017 G

BMPER

2-1355-004

chr7:
34059287-34059287

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BMPER

160030

chr7:
34101591-34101591

G

T

intronic

De novo

-

5.529E-5

Satterstrom2020 E
Trost2022 G

BMPER

1-0196-005

chr7:
34350606-34350606

G

A

intergenic

De novo

-

Yuen2017 G

BMPER

1-0563-003

chr7:
34087430-34087430

A

C

intronic

De novo

-

Yuen2017 G

BMPER

AU1860302

chr7:
34222990-34222990

A

G

intergenic

De novo

-

Yuen2017 G

BMPER

13889.p1

chr7:
34129342-34129342

T

C

intronic

De novo

-

Werling2018 G

BMPER

1-0043-003

chr7:
34076057-34076057

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

BMPER

1-0559-004

chr7:
34014715-34014715

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BMPER

7-0001-003

chr7:
34016239-34016239

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BMPER

1-0153-005

chr7:
34012983-34012983

G

A

intronic

De novo

-

Yuen2017 G

BMPER

1-0153-005A

chr7:
34012983-34012983

G

A

intronic

De novo

-

Trost2022 G

BMPER

7-0392-004

chr7:
34036404-34036404

A

AT

intronic

De novo

-

Trost2022 G

BMPER

AU3861302

chr7:
34357580-34357580

C

T

intergenic

De novo

-

Yuen2017 G

BMPER

SJD_55.3

chr7:
33984139-33984139

G

A

intronic

De novo

-

Trost2022 G

BMPER

AU055603

chr7:
33999698-33999698

G

A

intronic

De novo

-

Trost2022 G

BMPER

AU2293302

chr7:
33985132-33985132

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

BMPER

MSSNG00345-003

chr7:
33976832-33976832

T

C

intronic

De novo

-

Trost2022 G

BMPER

AU1933302

chr7:
33979059-33979059

T

G

intronic

De novo

-

Trost2022 G

BMPER

SP0074777

chr7:
33945361-33945361

A

T

intronic

De novo

-

Trost2022 G

BMPER

MSSNG00390-003

chr7:
33972249-33972249

C

A

intronic

De novo

-

Trost2022 G

BMPER

SP0028017

chr7:
34091447-34091447

T

TA

intronic

De novo

-

Trost2022 G

BMPER

MSSNG00047-004A

chr7:
34119386-34119386

T

C

intronic

De novo

-

Trost2022 G

BMPER

AU2405301

chr7:
34085637-34085637

G

A

intronic

De novo

-

Trost2022 G

BMPER

MSSNG00391-003

chr7:
34089400-34089400

T

C

intronic

De novo

-

Trost2022 G

BMPER

AU4310301

chr7:
34232760-34232760

T

C

intergenic

De novo

-

Yuen2017 G

BMPER

3-0142-000

chr7:
34063643-34063643

G

A

intronic

De novo

-

Trost2022 G

BMPER

AU3397302

chr7:
34011645-34011645

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

BMPER

SJD_15.3

chr7:
34192805-34192805

G

A

exonic

De novo

nonsynonymous SNV

NM_133468

c.G1978A

p.V660I

2.39

2.471E-5

Trost2022 G
Zhou2022 GE

BMPER

MSSNG00329-004

chr7:
34080864-34080865

AG

A

intronic

De novo

-

Trost2022 G

BMPER

2-1129-003

chr7:
34051250-34051250

G

A

intronic

De novo

-

Trost2022 G

BMPER

12493.p1

chr7:
34050601-34050601

A

G

intronic

De novo

-

Turner2016 G

BMPER

7-0365-004

chr7:
34052193-34052193

A

G

intronic

De novo

-

Trost2022 G

BMPER

2-1509-003

chr7:
33975663-33975678

CCACACACACACACAC

CCACACACACACACACAC

intronic

De novo

-

Yuen2017 G

BMPER

MT_48.3

chr7:
34184760-34184760

C

G

intronic

De novo

-

Trost2022 G

BMPER

7-0485-003

chr7:
34166979-34166979

T

C

intronic

De novo

-

Trost2022 G

BMPER

AU1448303

chr7:
34184735-34184735

A

G

intronic

De novo

-

Trost2022 G

BMPER

1-0524-003

chr7:
33987931-33987931

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

BMPER

MSSNG00066-003

chr7:
34160374-34160374

G

A

intronic

De novo

-

Trost2022 G

BMPER

1-0534-003

chr7:
34254732-34254732

G

A

intergenic

De novo

-

Yuen2017 G

BMPER

5-5064-003

chr7:
34164931-34164931

C

T

intronic

De novo

-

Trost2022 G

BMPER

AU3646301

chr7:
34294001-34294001

A

T

intergenic

De novo

-

Yuen2017 G

BMPER

AU3702307

chr7:
34033917-34033917

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 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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