Variant Results

or

Results for "CDH8"

Variant Events: 135

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

CDH8

5-0103-003

chr16:
62943843-62943853

ATTTCTTTCTT

ATTTCTT

intergenic

De novo

-

Yuen2017 G

CDH8

2-1184-003

chr16:
62467538-62467538

A

T

intergenic

De novo

-

Yuen2017 G

CDH8

2-1629-003

chr16:
63510503-63510503

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

11239.p1

chr16:
62686535-62686535

C

T

intergenic

De novo

-

Wilfert2021 G

CDH8

2-1379-003

chr16:
63594534-63594535

CT

C

intergenic

De novo

-

Yuen2017 G

CDH8

1-0632-003

chr16:
62215221-62215221

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

A26

chr16:
63376129-63376129

A

G

intergenic

De novo

-

Wu2018 G

CDH8

1-0303-004

chr16:
63431980-63431980

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

1-0674-003

chr16:
62315488-62315488

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

1-0104-004

chr16:
63331659-63331659

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

SP0071673

chr16:
61687976-61687976

G

A

exonic

De novo

nonsynonymous SNV

NM_001796

c.C1936T

p.R646W

21.5

2.49E-5

Fu2022 E

CDH8

AU1635302

chr16:
61965213-61965213

G

A

intronic

De novo

-

Yuen2017 G

CDH8

SP0061944

chr16:
61686442-61686443

CT

C

UTR3

De novo

-

Fu2022 E

CDH8

2-1355-004

chr16:
61786598-61786598

T

C

intronic

De novo

-

Yuen2017 G

CDH8

AU3900301

chr16:
63068639-63068639

G

T

intergenic

De novo

-

Yuen2017 G

CDH8

7-0174-003

chr16:
61896491-61896491

G

C

intronic

De novo

-

Yuen2017 G

CDH8

1-0408-003

chr16:
63978607-63978607

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH8

AU1860301

chr16:
63332706-63332706

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

2-0297-004

chr16:
64036922-64036922

A

T

intergenic

De novo

-

Yuen2017 G

CDH8

AU1933302

chr16:
62533367-62533367

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

PN400248

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

PN400474

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

1-0998-003

chr16:
62311087-62311104

TTCTCTCTCTCTCTCTCT

TTCTCTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

CDH8

7-0095-004

chr16:
63561195-63561195

C

CAGAT

intergenic

De novo

-

Yuen2017 G

CDH8

5-0017-004

chr16:
62540861-62540861

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

AU072004

chr16:
62719035-62719035

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

1-0640-003

chr16:
63627221-63627221

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

AU3397302

chr16:
63383758-63383758

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

AU4024303

chr16:
62565797-62565797

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

2-1342-003

chr16:
62577403-62577403

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH8

AU3052301

chr16:
63924547-63924547

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

AU4024303

chr16:
63852743-63852743

T

A

intergenic

De novo

-

Yuen2017 G

CDH8

2-1185-003

chr16:
61930754-61930754

T

C

intronic

De novo

-

Yuen2017 G

CDH8

AU054304

chr16:
63936000-63936000

T

A

intergenic

De novo

-

Yuen2017 G

CDH8

1-0914-003

chr16:
62426277-62426277

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

2-1690-003

chr16:
63177491-63177507

CGTGTGTGTGTGTGTGT

CGTGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

CDH8

7-0167-003

chr16:
62225655-62225655

C

A

intergenic

De novo

-

Yuen2017 G

CDH8

3-0140-000

chr16:
62474488-62474488

C

G

intergenic

De novo

-

Yuen2017 G

CDH8

2-1281-003

chr16:
62199698-62199698

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

2-1626-003

chr16:
62408976-62408976

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

1-0559-003

chr16:
62646077-62646077

C

A

intergenic

De novo

-

Yuen2017 G

CDH8

AU049304

chr16:
62221371-62221371

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

AU2569303

chr16:
62029657-62029657

G

A

intronic

De novo

-

Yuen2017 G

CDH8

PN400286

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

AU039305

chr16:
63185717-63185717

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

5-0050-004

chr16:
63850984-63850990

ATATATT

A

intergenic

De novo

-

Yuen2017 G

CDH8

3-0442-000

chr16:
62038683-62038683

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CDH8

1-0075-003

chr16:
63172678-63172693

CAGAGAGAGAGAGAGA

CAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

CDH8

AU2863303

chr16:
63657176-63657176

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

1-0534-006

chr16:
62786479-62786479

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

AU1909304

chr16:
61722376-61722376

A

T

intronic

De novo

-

Yuen2017 G

CDH8

1-0683-003

chr16:
62985109-62985109

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

2-1381-003

chr16:
63854191-63854191

A

T

intergenic

De novo

-

Yuen2017 G

CDH8

AU3918301

chr16:
63048854-63048854

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

AU4243302

chr16:
62525158-62525165

TAAAAAAA

TAAAAAA

intergenic

De novo

-

Yuen2017 G

CDH8

AU3779301

chr16:
63473033-63473033

T

A

intergenic

De novo

-

Yuen2017 G

CDH8

7-0055-003

chr16:
63154569-63154569

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

AU3645301

chr16:
63720724-63720724

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

PN400280

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

AU076705

chr16:
63655383-63655383

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

AU4269301

chr16:
62932773-62932773

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

1-0715-003

chr16:
63629201-63629201

G

C

intergenic

De novo

-

Yuen2017 G

CDH8

2-1397-003

chr16:
63682133-63682133

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

AU056804

chr16:
63295168-63295170

TAA

T

intergenic

De novo

-

Yuen2017 G

CDH8

AU4260303

chr16:
63506320-63506320

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

74-0075

chr16:
63592659-63592659

T

C

intergenic

De novo

-

Michaelson2012 G

CDH8

AU3703302

chr16:
63823267-63823267

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

AU3703302

chr16:
63823277-63823277

G

T

intergenic

De novo

-

Yuen2017 G

CDH8

AU4152303

chr16:
63909964-63909964

G

C

intergenic

De novo

-

Yuen2017 G

CDH8

2-0070-003

chr16:
62801532-62801532

C

G

intergenic

De novo

-

Yuen2017 G

CDH8

AU050704

chr16:
62409121-62409121

T

G

intergenic

De novo

-

Yuen2017 G

CDH8

2-1196-003

chr16:
62771039-62771039

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH8

1-0224-004

chr16:
63786883-63786883

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

AU3906301

chr16:
63062729-63062748

TTGTGTGTGTGTGTGTGTGT

TTGTGTGTGTGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

CDH8

1-0906-003

chr16:
62265270-62265278

GATAATAAT

GATAAT

intergenic

De novo

-

Yuen2017 G

CDH8

2-0272-003

chr16:
62138155-62138155

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

1-0051-004

chr16:
63754916-63754916

T

G

intergenic

De novo

-

Yuen2017 G

CDH8

AU060403

chr16:
62699977-62699977

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

PN400491

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

1-0906-003

chr16:
63863412-63863412

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

AU050403

chr16:
63318536-63318536

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

AU2333302

chr16:
63801988-63801988

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

1-0514-003

chr16:
63419779-63419779

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH8

AU2793301

chr16:
62889224-62889224

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

3-0392-000

chr16:
61932982-61932982

A

G

intronic

De novo

-

Yuen2016 G

CDH8

1-0625-003

chr16:
63161696-63161699

ACCC

A

intergenic

De novo

-

Yuen2017 G

CDH8

2-0116-005

chr16:
63142955-63142955

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

1-0344-003

chr16:
62865285-62865285

A

G

intergenic

De novo

-

Yuen2017 G

CDH8

PN400505

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

PN400483

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

AU2793301

chr16:
62889218-62889218

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

AU009903

chr16:
63345918-63345918

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

2-1228-003

chr16:
64087621-64087621

A

C

intergenic

De novo

-

Yuen2017 G

CDH8

AU038703

chr16:
62711867-62711870

CTTT

CTT

intergenic

De novo

-

Yuen2017 G

CDH8

PN400457

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

2-1093-005

chr16:
63238172-63238172

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

2-0088-003

chr16:
62332568-62332568

G

C

intergenic

De novo

-

Yuen2017 G

CDH8

1-0572-003

chr16:
63909209-63909209

A

C

intergenic

De novo

-

Yuen2017 G

CDH8

5-0033-004

chr16:
62942433-62942436

GTTC

G

intergenic

De novo

-

Yuen2017 G

CDH8

AU2525302

chr16:
63656385-63656385

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

PN400186

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

2-1173-003

chr16:
63139308-63139308

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

2-1719-003

chr16:
64048615-64048615

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

1-0273-004

chr16:
64008329-64008329

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

1-0382-004

chr16:
61830921-61830921

T

C

intronic

De novo

-

Yuen2017 G

CDH8

5-0054-003

chr16:
63000957-63000957

A

C

intergenic

De novo

-

Yuen2017 G

CDH8

PN400240

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

1-0244-003

chr16:
63857684-63857684

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH8

AU1933301

chr16:
63121992-63121992

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

A31

chr16:
63274972-63274976

AAGAG

A

intergenic

De novo

-

Wu2018 G

CDH8

2-1117-003

chr16:
63256298-63256298

A

C

intergenic

De novo

-

Yuen2017 G

CDH8

1-0745-003

chr16:
61851298-61851298

C

A

intronic

De novo

-

Yuen2017 G

CDH8

A25

chr16:
62230716-62230716

T

C

intergenic

De novo

-

Wu2018 G

CDH8

5-0133-003

chr16:
62442236-62442236

T

A

intergenic

De novo

-

Yuen2017 G

CDH8

2-0145-004

chr16:
62482536-62482536

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

5-0050-003

chr16:
63850984-63850990

ATATATT

A

intergenic

De novo

-

Yuen2017 G

CDH8

PN400267

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

AU3610302

chr16:
62596417-62596417

A

T

intergenic

De novo

-

Yuen2017 G

CDH8

PN400396

chr16:
61687916-61687916

G

A

exonic

Unknown

nonsynonymous SNV

NM_001796

c.C1996T

p.R666C

28.0

0.0019

Leblond2019 E

CDH8

1-0300-003

chr16:
62591835-62591835

G

C

intergenic

De novo

-

Yuen2017 G

CDH8

AU4444304

chr16:
62587129-62587129

G

T

intergenic

De novo

-

Yuen2017 G

CDH8

1-0595-005

chr16:
63851996-63851996

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

AU4263304

chr16:
62094232-62094232

G

T

intergenic

De novo

-

Yuen2017 G

CDH8

2-0214-004

chr16:
62914899-62914899

G

C

intergenic

De novo

-

Yuen2017 G

CDH8

2-1689-003

chr16:
62936105-62936105

T

A

intergenic

De novo

-

Yuen2017 G

CDH8

AU1952305

chr16:
63802086-63802086

C

G

intergenic

De novo

-

Yuen2017 G

CDH8

2-1164-003

chr16:
63723793-63723793

A

T

intergenic

De novo

-

Yuen2017 G

CDH8

5-0061-003

chr16:
62445953-62445953

T

C

intergenic

De novo

-

Yuen2017 G

CDH8

2-0305-004

chr16:
61984120-61984120

C

A

intronic

De novo

-

Yuen2017 G

CDH8

AU3903301

chr16:
63710559-63710559

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

2-0295-004

chr16:
64050798-64050798

C

A

intergenic

De novo

-

Yuen2017 G

CDH8

5-0071-003

chr16:
63735317-63735317

C

T

intergenic

De novo

-

Yuen2017 G

CDH8

2-1369-003

chr16:
62139135-62139135

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CDH8

2-1579-003

chr16:
63272001-63272001

G

A

intergenic

De novo

-

Yuen2017 G

CDH8

AU4479301

chr16:
63601472-63601472

T

C

intergenic

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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