Variant Results

or

Results for "DOCK10"

Variant Events: 39

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

DOCK10

13543.p1

chr2:
225817038-225817038

C

T

intronic

De novo

-

Turner2016 G

DOCK10

AU1987301

chr2:
225738140-225738140

A

C

intronic

De novo

-

Yuen2017 G

DOCK10

1-0158-012

chr2:
225852914-225852914

C

G

intronic

De novo

-

Yuen2017 G

DOCK10

13023.p1

chr2:
225820138-225820138

T

C

intronic

De novo

-

Turner2016 G

DOCK10

13023.p1

chr2:
225820220-225820220

G

C

intronic

De novo

-

Turner2016 G

DOCK10

1-0261-004

chr2:
226088134-226088138

GTCTT

G

intergenic

De novo

-

Yuen2017 G

DOCK10

AU025704

chr2:
225861307-225861307

G

A

intronic

De novo

-

Yuen2017 G

DOCK10

1-0022-004

chr2:
226184330-226184330

A

G

intergenic

De novo

-

Yuen2017 G

DOCK10

2-1306-004

chr2:
225630400-225630400

A

G

UTR3

De novo

-

Yuen2017 G

DOCK10

SP0070265

chr2:
225664973-225664973

G

GCCTATAAATACAAAATACCTATAAATACAATAAAATACAAAATAAAACAT

exonic

De novo

stopgain

NM_001290263
NM_014689

c.4382_4383insATGTTTTATTTTGTATTTTATTGTATTTATAGGTATTTTGTATTTATAGG
c.4400_4401insATGTTTTATTTTGTATTTTATTGTATTTATAGGTATTTTGTATTTATAGG

p.S1461_N1462delinsSCFILYFIVFIGILYLX
p.S1467_N1468delinsSCFILYFIVFIGILYLX

-

Fu2022 E

DOCK10

1-0274-004

chr2:
225844332-225844332

C

T

intronic

De novo

-

Yuen2017 G

DOCK10

SP0127522

chr2:
225706535-225706535

T

G

exonic

De novo

nonsynonymous SNV

NM_001290263
NM_014689

c.A2629C
c.A2647C

p.I877L
p.I883L

11.01

-

Fu2022 E

DOCK10

1-0338-003

chr2:
225774528-225774528

G

GTTTTGTTTTTTGTTTTTTGA

intronic

De novo

-

Yuen2017 G

DOCK10

1-0531-003

chr2:
226148277-226148277

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DOCK10

2-1368-003

chr2:
225983859-225983859

C

T

intergenic

De novo

-

Yuen2017 G

DOCK10

7-0256-003

chr2:
225996660-225996660

G

A

intergenic

De novo

-

Yuen2017 G

DOCK10

AU3906301

chr2:
226080959-226080959

G

A

intergenic

De novo

-

Yuen2017 G

DOCK10

1-0323-003

chr2:
225698675-225698675

A

G

intronic

De novo

-

Yuen2017 G

DOCK10

1-0441-003

chr2:
225670816-225670816

T

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DOCK10

1-0022-003

chr2:
226184330-226184330

A

G

intergenic

De novo

-

Yuen2016 G

DOCK10

2-1306-003

chr2:
225630400-225630400

A

G

UTR3

De novo

-

Yuen2017 G

DOCK10

AU056604

chr2:
225779701-225779701

A

G

intronic

De novo

-

Yuen2017 G

DOCK10

7-0141-003

chr2:
225796866-225796866

A

G

intronic

De novo

-

Yuen2017 G

DOCK10

1-0274-003

chr2:
225844332-225844332

C

T

intronic

De novo

-

Yuen2017 G

DOCK10

1-0065-005

chr2:
226109155-226109155

T

TAAAC

intergenic

De novo

-

Yuen2017 G

DOCK10

2-0045-003

chr2:
226069324-226069324

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DOCK10

AU3857301

chr2:
225638252-225638252

C

A

intronic

De novo

-

Yuen2017 G

DOCK10

PN400157

chr2:
225721677-225721677

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290263
NM_014689

c.G1690A
c.G1708A

p.G564R
p.G570R

28.7

0.0073

Leblond2019 E

DOCK10

AU3727303

chr2:
225771449-225771449

G

C

intronic

De novo

-

Yuen2017 G

DOCK10

2-1429-003

chr2:
225917272-225917272

T

C

intergenic

De novo

-

Yuen2017 G

DOCK10

AU047904

chr2:
226067249-226067249

A

G

intergenic

De novo

-

Yuen2017 G

DOCK10

2-0238-003

chr2:
225890318-225890318

T

C

intronic

De novo

-

Yuen2017 G

DOCK10

AU073006

chr2:
226187912-226187912

G

A

intergenic

De novo

-

Yuen2017 G

DOCK10

1-0253-005

chr2:
225720326-225720326

C

A

intronic

De novo

-

Yuen2017 G

DOCK10

1-0898-003

chr2:
225677871-225677871

C

T

intronic

De novo

-

Yuen2017 G

DOCK10

AU3786301

chr2:
226169455-226169455

C

T

intergenic

De novo

-

Yuen2017 G

DOCK10

1-0935-003

chr2:
225714298-225714298

C

T

exonic

De novo

nonsynonymous SNV

NM_001290263
NM_014689

c.G2143A
c.G2161A

p.G715R
p.G721R

29.2

-

Yuen2017 G

DOCK10

1-0010-003

chr2:
225808835-225808835

T

C

intronic

De novo

-

Yuen2017 G

DOCK10

1-0701-003

chr2:
225689557-225689557

G

C

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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