Variant Results

or

Results for "PDE4D"

Variant Events: 78

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

PDE4D

AU076509

chr5:
58816817-58816817

G

A

intronic

De novo

-

Yuen2017 G

PDE4D

AU2129301

chr5:
59013778-59013784

ATCTTCT

ATCT

intronic

De novo

-

Yuen2017 G

PDE4D

AU3859301

chr5:
59618650-59618650

C

T

intronic

De novo

-

Yuen2017 G

PDE4D

7-0100-004

chr5:
59447374-59447374

G

T

intronic

De novo

-

Yuen2017 G

PDE4D

5-0017-004

chr5:
58752684-58752684

C

T

intronic

De novo

-

Yuen2017 G

PDE4D

1-0373-003

chr5:
58275511-58275511

T

G

intronic

De novo

-

Yuen2017 G

PDE4D

2-0135-003

chr5:
58739954-58739954

T

C

intronic

De novo

-

Yuen2017 G

PDE4D

1-0352-005

chr5:
58628180-58628180

A

C

intronic

De novo

-

Yuen2017 G

PDE4D

3-0482-000

chr5:
58735799-58735799

A

G

intronic

De novo

-

Yuen2017 G

PDE4D

AU3713302

chr5:
58522735-58522735

G

A

intronic

De novo

-

Yuen2017 G

PDE4D

1-0572-003

chr5:
59382812-59382812

G

A

intronic

De novo

-

Yuen2017 G

PDE4D

1-0382-004

chr5:
58374093-58374093

A

C

intronic

De novo

-

Yuen2017 G

PDE4D

AU3875301

chr5:
58350963-58350963

G

C

intronic

De novo

-

Yuen2017 G

PDE4D

11724.p1

chr5:
58285584-58285584

C

A

exonic

Mosaic

stopgain

NM_001197222
NM_001197223
NM_001197221
NM_001104631
NM_001197218
NM_001197219
NM_001197220
NM_006203
NM_001165899

c.G778T
c.G577T
c.G544T
c.G1450T
c.G1258T
c.G1084T
c.G1060T
c.G1042T
c.G1267T

p.E260X
p.E193X
p.E182X
p.E484X
p.E420X
p.E362X
p.E354X
p.E348X
p.E423X

38.0

-

Dou2017 E

PDE4D

2-0144-003

chr5:
59277195-59277195

G

T

intronic

De novo

-

Yuen2017 G

PDE4D

AU4392302

chr5:
58284262-58284262

T

C

intronic

De novo

-

Yuen2017 G

PDE4D

1-0181-004

chr5:
59746002-59746009

TCAGATAC

TCAGATACAGATAC

intronic

De novo

-

Yuen2017 G

PDE4D

AU3862305

chr5:
58993904-58993905

AT

A

intronic

De novo

-

Yuen2017 G

PDE4D

AU071204

chr5:
59048478-59048478

T

G

intronic

De novo

-

Yuen2017 G

PDE4D

AU4199303

chr5:
58308965-58308965

A

G

intronic

De novo

-

Yuen2017 G

PDE4D

2-1231-003

chr5:
58615566-58615566

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4D

2-1509-003

chr5:
58731346-58731348

TCC

TC

intronic

De novo

-

Yuen2017 G

PDE4D

1-0638-003

chr5:
58967815-58967815

C

A

intronic

De novo

-

Yuen2017 G

PDE4D

1-0173-004

chr5:
59185598-59185600

AGT

A

intronic

De novo

-

Yuen2017 G

PDE4D

2-1721-003

chr5:
59358477-59358477

G

C

intronic

De novo

-

Yuen2017 G

PDE4D

1-0465-003

chr5:
59516118-59516118

G

A

intronic

De novo

-

Yuen2017 G

PDE4D

1-0571-003

chr5:
59696134-59696134

G

A

intronic

De novo

-

Yuen2017 G

PDE4D

AU4228301

chr5:
58509568-58509568

T

C

intronic

De novo

-

Yuen2017 G

PDE4D

AU3646301

chr5:
59403270-59403270

C

G

intronic

De novo

-

Yuen2017 G

PDE4D

1-0054-004

chr5:
59513633-59513633

T

C

intronic

De novo

-

Yuen2017 G

PDE4D

1-0206-005

chr5:
58957520-58957520

G

A

intronic

De novo

-

Yuen2017 G

PDE4D

AU2410301

chr5:
58364614-58364614

T

A

intronic

De novo

-

Yuen2017 G

PDE4D

AU3903301

chr5:
58929206-58929206

A

G

intronic

De novo

-

Yuen2017 G

PDE4D

1-0973-003

chr5:
59238055-59238055

G

A

intronic

De novo

-

Yuen2017 G

PDE4D

3-0080-000

chr5:
58522577-58522577

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4D

AU072904

chr5:
59691521-59691521

C

G

intronic

De novo

-

Yuen2017 G

PDE4D

1-0514-003

chr5:
59572182-59572182

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4D

AU2293301

chr5:
59243088-59243088

G

A

intronic

De novo

-

Yuen2017 G

PDE4D

11341.p1

chr5:
58297024-58297024

A

G

intronic

De novo

-

Turner2016 G

PDE4D

2-1336-004

chr5:
58600221-58600223

CTT

C

intronic

De novo

-

Yuen2017 G

PDE4D

1-0935-003

chr5:
59383808-59383819

GAAAGAATACTT

G

intronic

De novo

-

Yuen2017 G

PDE4D

2-0012-003

chr5:
58796981-58796983

TCA

T

intronic

De novo

-

Yuen2017 G

PDE4D

13393.p1

chr5:
58739572-58739572

C

T

intronic

De novo

-

Turner2016 G

PDE4D

1-0099-003

chr5:
58981584-58981603

TGGAAAGCATGTGTGGGAAA

TGGAAA

intronic

De novo

-

Yuen2017 G

PDE4D

AU2975301

chr5:
58483572-58483572

T

C

intronic

De novo

-

Yuen2017 G

PDE4D

3-0446-000

chr5:
58596228-58596228

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4D

AU056804

chr5:
58299221-58299221

C

T

intronic

De novo

-

Yuen2017 G

PDE4D

2-0109-003

chr5:
59120190-59120190

T

TAGCA

intronic

De novo

-

Yuen2017 G

PDE4D

1-0489-003

chr5:
58721221-58721221

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4D

7-0128-003

chr5:
58865291-58865291

C

T

intronic

De novo

-

Yuen2017 G

PDE4D

1-0507-003

chr5:
59343372-59343372

C

A

intronic

De novo

-

Yuen2017 G

PDE4D

2-1437-004

chr5:
58919470-58919470

A

G

intronic

De novo

-

Yuen2017 G

PDE4D

A20

chr5:
59680684-59680684

T

C

intronic

De novo

-

Wu2018 G

PDE4D

2-1254-003

chr5:
59104395-59104395

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4D

2-1437-004

chr5:
59411479-59411479

T

C

intronic

De novo

-

Yuen2017 G

PDE4D

AU3846302

chr5:
58617317-58617317

T

C

intronic

De novo

-

Yuen2017 G

PDE4D

2-1290-004

chr5:
59636092-59636092

C

T

intronic

De novo

-

Yuen2017 G

PDE4D

1-0458-005

chr5:
58914276-58914276

C

G

intronic

De novo

-

Yuen2017 G

PDE4D

2-1318-004

chr5:
58374847-58374847

C

T

intronic

De novo

-

Yuen2017 G

PDE4D

2-1120-003

chr5:
59452931-59452931

A

G

intronic

De novo

-

Yuen2017 G

PDE4D

1-0352-003

chr5:
58628180-58628180

A

C

intronic

De novo

-

Yuen2016 G

PDE4D

2-1373-003

chr5:
59317734-59317734

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4D

5-0087-003

chr5:
58422202-58422202

T

C

intronic

De novo

-

Yuen2017 G

PDE4D

AU2485305

chr5:
59475269-59475269

T

G

intronic

De novo

-

Yuen2017 G

PDE4D

AU2022302

chr5:
59243126-59243126

G

A

intronic

De novo

-

Yuen2017 G

PDE4D

13026.p1

chr5:
59736662-59736662

C

T

intronic

De novo

-

Werling2018 G

PDE4D

2-1379-003

chr5:
58334397-58334397

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4D

AU3782303

chr5:
59057146-59057146

T

C

intronic

De novo

-

Yuen2017 G

PDE4D

AU4467302

chr5:
59461967-59461967

G

C

intronic

De novo

-

Yuen2017 G

PDE4D

2-1174-005B

chr5:
59303877-59303877

C

CTATAAGATATAAGATATATAAGATA

intronic

De novo

-

Yuen2017 G

PDE4D

2-1291-003

chr5:
58303287-58303287

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4D

5-0109-003

chr5:
59743408-59743408

C

T

intronic

De novo

-

Yuen2017 G

PDE4D

AU1988302

chr5:
58463257-58463257

T

C

intronic

De novo

-

Yuen2017 G

PDE4D

1-0512-003

chr5:
58893353-58893370

AAGAGAGAGAGAGAGAGA

AAGAGAGAGAGAGAGA

intronic

De novo

-

Yuen2017 G

PDE4D

2-1222-003

chr5:
59509341-59509341

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

PDE4D

AU1698302

chr5:
58683685-58683685

A

G

intronic

De novo

-

Yuen2017 G

PDE4D

AU3859301

chr5:
58490800-58490800

T

G

intronic

De novo

-

Yuen2017 G

PDE4D

1-0487-003

chr5:
59282723-59282723

C

G

intronic

De novo

-

Yuen2016 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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