Variant Results

or

Results for "CDH12"

Variant Events: 97

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

CDH12

1-0259-003

chr5:
23263411-23263411

T

C

intergenic

De novo

-

Yuen2017 G

CDH12

2-1166-003

chr5:
23155269-23155269

G

C

intergenic

De novo

-

Yuen2017 G

CDH12

7-0095-004

chr5:
22117692-22117692

C

CTATT

intronic

De novo

-

Yuen2017 G

CDH12

AU1795302

chr5:
23359311-23359311

C

G

intergenic

De novo

-

Yuen2017 G

CDH12

AU072905

chr5:
22527690-22527690

G

A

intronic

De novo

-

Yuen2017 G

CDH12

2-1180-003

chr5:
23416673-23416673

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH12

AU1955302

chr5:
22695955-22695955

C

T

intronic

De novo

-

Yuen2017 G

CDH12

1-0484-003

chr5:
23397743-23397743

G

A

intergenic

De novo

-

Yuen2017 G

CDH12

AU049304

chr5:
22759831-22759831

A

G

intronic

De novo

-

Yuen2017 G

CDH12

AU4452302

chr5:
23472269-23472269

A

C

intergenic

De novo

-

Yuen2017 G

CDH12

AU3263301

chr5:
22348421-22348421

G

A

intronic

De novo

-

Yuen2017 G

CDH12

7-0254-003

chr5:
22416165-22416170

AGGTCT

A

intronic

De novo

-

Yuen2017 G

CDH12

AU1909304

chr5:
23440812-23440812

C

T

intergenic

De novo

-

Yuen2017 G

CDH12

2-1501-003

chr5:
22574069-22574069

C

T

intronic

De novo

-

Yuen2017 G

CDH12

AU2140306

chr5:
22854442-22854442

C

T

upstream

De novo

-

Yuen2017 G

CDH12

2-1345-003

chr5:
22129340-22129340

C

T

intronic

De novo

-

Yuen2017 G

CDH12

AU4410302

chr5:
21946874-21946874

T

A

intronic

De novo

-

Yuen2017 G

CDH12

AU058105

chr5:
22416344-22416344

C

T

intronic

De novo

-

Yuen2017 G

CDH12

2-1381-003

chr5:
22219553-22219553

T

A

intronic

De novo

-

Yuen2017 G

CDH12

AU3727303

chr5:
22557204-22557204

A

G

intronic

De novo

-

Yuen2017 G

CDH12

2-1454-003

chr5:
22750783-22750783

G

A

intronic

De novo

-

Yuen2017 G

CDH12

1-0874-003

chr5:
22561863-22561863

G

C

intronic

De novo

-

Yuen2017 G

CDH12

1-0372-003

chr5:
21940702-21940702

T

C

intronic

De novo

-

Yuen2017 G

CDH12

AU4392301

chr5:
23456829-23456829

C

T

intergenic

De novo

-

Yuen2017 G

CDH12

1-0715-003

chr5:
22988373-22988373

A

G

intergenic

De novo

-

Yuen2017 G

CDH12

1-0305-004

chr5:
22267275-22267275

G

A

intronic

De novo

-

Yuen2017 G

CDH12

AU3913302

chr5:
23438383-23438383

G

A

intergenic

De novo

-

Yuen2017 G

CDH12

1-0453-003

chr5:
21904310-21904310

C

A

intronic

De novo

-

Yuen2017 G

CDH12

08C72543

chr5:
21760757-21760757

G

A

exonic

De novo

stopgain

NM_001317227
NM_001317228
NM_004061

c.C1543T
c.C1423T
c.C1543T

p.R515X
p.R475X
p.R515X

42.0

2.473E-5

Satterstrom2020 E

CDH12

AU071703

chr5:
22305521-22305521

T

A

intronic

De novo

-

Yuen2017 G

CDH12

AU072005

chr5:
22154882-22154882

G

A

intronic

De novo

-

Yuen2017 G

CDH12

1-0274-004

chr5:
22267040-22267040

C

T

intronic

De novo

-

Yuen2017 G

CDH12

1-0022-004

chr5:
23390323-23390323

G

T

intergenic

De novo

-

Yuen2017 G

CDH12

1-0458-005

chr5:
22773177-22773177

G

A

intronic

De novo

-

Yuen2017 G

CDH12

2-1318-004

chr5:
21860952-21860952

G

GACAGTTCCCAA

intronic

De novo

-

Yuen2017 G

CDH12

2-0244-003

chr5:
22648826-22648826

T

A

intronic

De novo

-

Yuen2017 G

CDH12

5-0055-004

chr5:
22527107-22527107

C

A

intronic

De novo

-

Yuen2017 G

CDH12

1-0007-003

chr5:
23388002-23388002

G

A

intergenic

De novo

-

Yuen2017 G

CDH12

7-0168-003

chr5:
22330167-22330167

C

A

intronic

De novo

-

Yuen2017 G

CDH12

AU050704

chr5:
22714728-22714728

A

C

intronic

De novo

-

Yuen2017 G

CDH12

AU060403

chr5:
22977024-22977026

AAT

A

intergenic

De novo

-

Yuen2017 G

CDH12

AU047904

chr5:
23023513-23023513

C

T

intergenic

De novo

-

Yuen2017 G

CDH12

AU051504

chr5:
21941944-21941944

C

T

intronic

De novo

-

Yuen2017 G

CDH12

2-1213-003

chr5:
22113110-22113119

AATCATCATC

AATCATC

intronic

De novo

-

Yuen2017 G

CDH12

2-1264-003

chr5:
22863577-22863577

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH12

2-0022-003

chr5:
22969212-22969212

G

T

intergenic

De novo

-

Yuen2017 G

CDH12

1-0068-003

chr5:
23504605-23504605

G

T

intergenic

De novo

-

Yuen2017 G

CDH12

AU3849303

chr5:
23344386-23344386

T

C

intergenic

De novo

-

Yuen2017 G

CDH12

1-0068-003

chr5:
21775833-21775833

T

G

intronic

De novo

-

Yuen2017 G

CDH12

7-0161-003

chr5:
21970306-21970306

T

C

intronic

De novo

-

Yuen2017 G

CDH12

5-0133-003

chr5:
22639022-22639022

T

TGATGGCGGGCGC

intronic

De novo

-

Yuen2017 G

CDH12

1-0169-003

chr5:
21837528-21837528

G

A

intronic

De novo

-

Yuen2017 G

CDH12

2-1369-003

chr5:
21999848-21999848

A

G

intronic

De novo

-

Yuen2017 G

CDH12

AU3051302

chr5:
21768151-21768151

T

C

intronic

De novo

-

Yuen2017 G

CDH12

1-0336-004

chr5:
22967628-22967628

A

G

intergenic

De novo

-

Yuen2017 G

CDH12

AU3839302

chr5:
22284504-22284504

T

C

intronic

De novo

-

Yuen2017 G

CDH12

1-0006-003

chr5:
22683829-22683829

A

G

intronic

De novo

-

Yuen2017 G

CDH12

2-0320-003

chr5:
22127097-22127097

T

C

intronic

De novo

-

Yuen2017 G

CDH12

7-0179-003

chr5:
22671364-22671377

CTGTGTGTGTGTGT

CTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

CDH12

AU4246304

chr5:
23371786-23371786

A

G

intergenic

De novo

-

Yuen2017 G

CDH12

2-1366-003

chr5:
22514144-22514144

T

C

intronic

De novo

-

Yuen2017 G

CDH12

1-0339-003

chr5:
22068776-22068776

C

CA

intronic

De novo

-

Yuen2017 G

CDH12

2-1506-003

chr5:
22087623-22087625

ACC

ACCC

intronic

De novo

-

Yuen2017 G

CDH12

12680.p1

chr5:
23045439-23045439

C

T

intergenic

De novo

-

Turner2016 G

CDH12

12529.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

CDH12

2-1366-003

chr5:
22549345-22549345

G

A

intronic

De novo

-

Yuen2017 G

CDH12

AU3846303

chr5:
22493359-22493359

T

C

intronic

De novo

-

Yuen2017 G

CDH12

2-0127-004

chr5:
23281095-23281095

C

G

intergenic

De novo

-

Yuen2017 G

CDH12

1-0022-003

chr5:
23390323-23390323

G

T

intergenic

De novo

-

Yuen2016 G

CDH12

AU4032307

chr5:
22492637-22492637

G

A

intronic

De novo

-

Yuen2017 G

CDH12

1-0206-005

chr5:
21874513-21874513

T

G

intronic

De novo

-

Yuen2017 G

CDH12

AU030104

chr5:
22244623-22244648

AAAAAAAAAAAAAAAAAAAAGAAGAA

AAA

intronic

De novo

-

Yuen2017 G

CDH12

1-0585-003

chr5:
22043538-22043538

A

T

intronic

De novo

-

Yuen2017 G

CDH12

2-0142-003

chr5:
23341424-23341424

G

A

intergenic

De novo

-

Yuen2017 G

CDH12

AU005213

chr5:
21758518-21758518

C

A

intronic

De novo

-

Yuen2017 G

CDH12

AU4153301

chr5:
21871608-21871608

G

A

intronic

De novo

-

Yuen2017 G

CDH12

13143.p1

chr5:
22897322-22897322

T

C

intergenic

De novo

-

Wilfert2021 G

CDH12

11519.p1

chr5:
22261921-22261921

C

A

intronic

De novo

-

Wilfert2021 G

CDH12

A17

chr5:
23448687-23448687

C

T

intergenic

De novo

-

Wu2018 G

CDH12

AU034903

chr5:
22382777-22382777

C

A

intronic

De novo

-

Yuen2017 G

CDH12

AU4237301

chr5:
22530444-22530444

T

C

intronic

De novo

-

Yuen2017 G

CDH12

A7

chr5:
22292345-22292345

C

G

intronic

De novo

-

Wu2018 G

CDH12

2-1330-003

chr5:
23485710-23485710

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH12

AU3057302

chr5:
23365793-23365793

T

A

intergenic

De novo

-

Yuen2017 G

CDH12

AU071203

chr5:
22080539-22080539

G

A

intronic

De novo

-

Yuen2017 G

CDH12

1-0197-004

chr5:
22441853-22441853

G

A

intronic

De novo

-

Yuen2017 G

CDH12

AU3399302

chr5:
23193505-23193505

G

A

intergenic

De novo

-

Yuen2017 G

CDH12

AU3765302

chr5:
22699794-22699794

T

C

intronic

De novo

-

Yuen2017 G

CDH12

1-0158-012

chr5:
21908116-21908116

A

C

intronic

De novo

-

Yuen2017 G

CDH12

AU2162302

chr5:
22770315-22770315

T

C

intronic

De novo

-

Yuen2017 G

CDH12

AU4250301

chr5:
22089198-22089198

T

C

intronic

De novo

-

Yuen2017 G

CDH12

1-0253-004

chr5:
22229483-22229485

CTA

C

intronic

De novo

-

Yuen2017 G

CDH12

AU063005

chr5:
21929751-21929751

C

T

intronic

De novo

-

Yuen2017 G

CDH12

AU076704

chr5:
22952473-22952473

A

G

intergenic

De novo

-

Yuen2017 G

CDH12

AU4423303

chr5:
22774741-22774741

C

A

intronic

De novo

-

Yuen2017 G

CDH12

AU3885305

chr5:
21961725-21961725

T

C

intronic

De novo

-

Yuen2017 G

CDH12

1-0274-003

chr5:
22267040-22267040

C

T

intronic

De novo

-

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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