Variant Results

or

Results for "DAPK1"

Variant Events: 38

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

DAPK1

AU3790301

chr9:
90120562-90120562

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DAPK1

Wang2023:860

chr9:
90261452-90261452

C

G

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.C1208G
c.C1208G
c.C1208G
c.C1208G

p.S403W
p.S403W
p.S403W
p.S403W

19.12

-

Wang2023 E

DAPK1

A15

chr9:
90334123-90334123

A

G

intergenic

De novo

-

Wu2018 G

DAPK1

AU047904

chr9:
90245500-90245500

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DAPK1

09C99931

chr9:
90301541-90301541

C

T

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.C2300T
c.C2300T
c.C2300T
c.C2300T

p.P767L
p.P767L
p.P767L
p.P767L

28.3

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DAPK1

1-0007-003

chr9:
90328368-90328382

CGTGTGTGTGTGTGT

CGTGTGTGTGTGT

intergenic

De novo

-

Yuen2017 G

DAPK1

AU3903301

chr9:
90267687-90267687

G

A

intronic

De novo

-

Yuen2017 G

DAPK1

SJD_46.3

chr9:
90118978-90118978

C

T

intronic

De novo

-

Trost2022 G

DAPK1

11414.p1

chr9:
90263666-90263666

T

C

intronic

De novo

-

Satterstrom2020 E

DAPK1

7-0483-003

chr9:
90129098-90129098

A

G

intronic

De novo

-

Trost2022 G

DAPK1

3-0161-000

chr9:
90113688-90113688

A

ACG

intronic

De novo

-

Trost2022 G

DAPK1

35985

chr9:
90264933-90264933

G

A

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.G1526A
c.G1526A
c.G1526A
c.G1526A

p.R509Q
p.R509Q
p.R509Q
p.R509Q

19.91

2.485E-5

Fu2022 E
Trost2022 G

DAPK1

AU3635301

chr9:
90301768-90301768

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DAPK1

5-0043-003

chr9:
90232617-90232617

A

G

intronic

De novo

-

Trost2022 G

DAPK1

00HI1751A

chr9:
90318054-90318054

C

T

exonic

De novo

synonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.C2982T
c.C2982T
c.C2982T
c.C2982T

p.D994D
p.D994D
p.D994D
p.D994D

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DAPK1

SP0046512

chr9:
90322064-90322064

G

A

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.G4078A
c.G4078A
c.G4078A
c.G4078A

p.A1360T
p.A1360T
p.A1360T
p.A1360T

7.034

4.153E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DAPK1

5-0101-003

chr9:
90239058-90239058

C

T

intronic

De novo

-

Trost2022 G

DAPK1

4-0073-003

chr9:
90224261-90224263

ACG

TGA

intronic

De novo

-

Trost2022 G

DAPK1

MSSNG00352-004

chr9:
90229220-90229220

A

G

intronic

De novo

-

Trost2022 G

DAPK1

SP0104999

chr9:
90321480-90321480

C

T

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.C3494T
c.C3494T
c.C3494T
c.C3494T

p.A1165V
p.A1165V
p.A1165V
p.A1165V

16.14

5.832E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DAPK1

2-1659-003

chr9:
90200602-90200602

T

C

intronic

De novo

-

Trost2022 G

DAPK1

1-1204-004

chr9:
90219650-90219650

A

T

intronic

De novo

-

Trost2022 G

DAPK1

SP0052150

chr9:
90301592-90301592

C

T

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.C2351T
c.C2351T
c.C2351T
c.C2351T

p.P784L
p.P784L
p.P784L
p.P784L

11.89

2.687E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DAPK1

7-0465-003

chr9:
90159972-90159972

C

A

intronic

De novo

-

Trost2022 G

DAPK1

SP0109227

chr9:
90321522-90321522

G

A

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.G3536A
c.G3536A
c.G3536A
c.G3536A

p.R1179H
p.R1179H
p.R1179H
p.R1179H

11.35

1.676E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DAPK1

1-0242-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

DAPK1

MT_21.3

chr9:
90313381-90313381

C

T

intronic

De novo

-

Trost2022 G

DAPK1

1-0051-005

chr9:
90270673-90270674

GA

AT

intronic

De novo

-

Trost2022 G

DAPK1

AU2320301

chr9:
90290039-90290039

A

T

intronic

De novo

-

Trost2022 G

DAPK1

MSSNG00218-003

chr9:
90258213-90258213

A

G

intronic

De novo

-

Trost2022 G

DAPK1

5020

chr9:
90263666-90263666

T

C

intronic

De novo

-

Trost2022 G

DAPK1

MSSNG00015-003

chr9:
90255581-90255581

C

T

intronic

De novo

-

Trost2022 G

DAPK1

3-0719-000

chr9:
90256418-90256418

C

G

intronic

De novo

-

Trost2022 G

DAPK1

2-1525-003

chr9:
90217466-90217466

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DAPK1

13884.p1

chr9:
90264933-90264933

G

A

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.G1526A
c.G1526A
c.G1526A
c.G1526A

p.R509Q
p.R509Q
p.R509Q
p.R509Q

19.91

2.485E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

DAPK1

1-0024-003

chr9:
90301541-90301541

C

T

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.C2300T
c.C2300T
c.C2300T
c.C2300T

p.P767L
p.P767L
p.P767L
p.P767L

28.3

-

Yuen2016 G
Yuen2017 G
Zhou2022 GE

DAPK1

SMHC00860s000

chr9:
90261452-90261452

C

G

exonic

De novo

nonsynonymous SNV

NM_001288729
NM_001288730
NM_001288731
NM_004938

c.C1208G
c.C1208G
c.C1208G
c.C1208G

p.S403W
p.S403W
p.S403W
p.S403W

19.12

-

Yuan2023 E

DAPK1

1-0215-006

chr9:
90256810-90256810

T

C

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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