Variant Results

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Results for "CDC14B"

Variant Events: 13

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

CDC14B

1-0986-003

chr9:
99277119-99277119

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC14B

SP0101760

chr9:
99278105-99278105

G

A

intronic

De novo

-

-

Fu2022 E
Trost2022 G

CDC14B

133338

chr9:
99296743-99296743

C

A

exonic

stopgain

NM_001077181
NM_003671
NM_033331

c.G598T
c.G709T
c.G709T

p.E200X
p.E237X
p.E237X

26.1

-

Woodbury-Smith2022 E

CDC14B

SP0104743

chr9:
99381640-99381640

C

T

exonic

De novo

synonymous SNV

NM_003671
NM_033331

c.G21A
c.G21A

p.R7R
p.R7R

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CDC14B

1-0290-003

chr9:
99331709-99331709

C

T

intronic

De novo

-

-

Yuen2017 G

CDC14B

1-0885-003

chr9:
99361355-99361355

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC14B

1-0595-004

chr9:
99349513-99349513

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC14B

AU056204

chr9:
99369219-99369219

G

A

intronic

De novo

-

-

Yuen2017 G

CDC14B

1-0273-004

chr9:
99393035-99393035

C

T

intergenic

De novo

-

-

Yuen2017 G

CDC14B

2-1209-003

chr9:
99307466-99307466

C

G

intronic

De novo

-

-

Trost2022 G

CDC14B

1-0262-003A

chr9:
99273625-99273625

T

A

intronic

De novo

-

-

Trost2022 G

CDC14B

2-1738-003

chr9:
99314815-99314815

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CDC14B

7-0450-003

chr9:
99284570-99284570

C

G

intronic

De novo

-

-

Trost2022 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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