Variant Results

or

Results for "XPO1"

Variant Events: 36

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

XPO1

SP0085041

chr2:
61719801-61719801

C

G

exonic

De novo

nonsynonymous SNV

NM_003400

c.G1467C

p.W489C

23.8

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

XPO1

SP0085041

chr2:
61717872-61717872

C

T

exonic

De novo

nonsynonymous SNV

NM_003400

c.G1927A

p.A643T

36.0

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

XPO1

2-1382-003

chr2:
61813557-61813557

G

C

intergenic

De novo

-

Yuen2017 G

XPO1

2-1382-003

chr2:
61801826-61801826

G

C

intergenic

De novo

-

Yuen2017 G

XPO1

AU1848302

chr2:
61792998-61792998

G

A

intergenic

De novo

-

Yuen2017 G

XPO1

AU1848302

chr2:
61790912-61790912

T

C

intergenic

De novo

-

Yuen2017 G

XPO1

AU1848302

chr2:
61792111-61792111

T

C

intergenic

De novo

-

Yuen2017 G

XPO1

1-0155-003

chr2:
62019450-62019450

C

G

intergenic

De novo

-

Yuen2017 G

XPO1

11456.p1

chr2:
61813263-61813263

A

G

intergenic

De novo

-

Turner2016 G

XPO1

2-1497-003

chr2:
61910293-61910293

T

G

intergenic

De novo

-

Yuen2017 G

XPO1

1-0253-004

chr2:
61753938-61753938

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

XPO1

5-5027-003

chr2:
61764460-61764460

G

C

intronic

De novo

-

Trost2022 G

XPO1

REACH000529

chr2:
61765477-61765477

G

A

upstream

De novo

-

Trost2022 G

XPO1

1-0507-003

chr2:
61985945-61985945

T

A

intergenic

De novo

-

Yuen2017 G

XPO1

MSSNG00359-004

chr2:
61714821-61714821

C

T

intronic

De novo

-

Trost2022 G

XPO1

258-07-108397

chr2:
61725911-61725911

G

A

exonic

De novo

nonsynonymous SNV

NM_003400

c.C656T

p.A219V

20.3

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

XPO1

REACH000228

chr2:
61741180-61741180

G

A

intronic

De novo

-

Trost2022 G

XPO1

AU3891304

chr2:
61870993-61870993

T

C

intergenic

De novo

-

Yuen2017 G

XPO1

5-0026-003

chr2:
61708743-61708744

GG

AA

intronic

De novo

-

Trost2022 G

XPO1

1-1000-003

chr2:
61877612-61877617

TCACAC

TCAC

intergenic

De novo

-

Yuen2017 G

XPO1

5-0026-003

chr2:
61708748-61708748

A

ATTT

intronic

De novo

-

Trost2022 G

XPO1

AU2485305

chr2:
61977283-61977283

T

A

intergenic

De novo

-

Yuen2017 G

XPO1

SP0097526

chr2:
61752872-61752872

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

XPO1

GEA413

chr2:
61715779-61715779

A

C

exonic

De novo

nonsynonymous SNV

NM_003400

c.T2150G

p.M717R

23.5

-

Fu2022 E

XPO1

2-1382-003

chr2:
61825135-61825135

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

XPO1

SSC10227

chr2:
61719508-61719508

A

T

exonic

De novo

nonsynonymous SNV

NM_003400

c.T1675A

p.W559R

25.6

-

Fu2022 E

XPO1

2-1440-003

chr2:
61720628-61720628

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

XPO1

2-1382-003

chr2:
61856600-61856600

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

XPO1

Lim2017:12052

chr2:
61726859-61726859

A

C

exonic

De novo

nonsynonymous SNV

NM_003400

c.T579G

p.H193Q

16.75

-

Lim2017 E

XPO1

1-0558-003

chr2:
61742297-61742297

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

XPO1

AU3761302

chr2:
61790974-61790974

G

A

intergenic

De novo

-

Yuen2017 G

XPO1

2-0238-003

chr2:
61773959-61773959

G

T

intergenic

De novo

-

Yuen2017 G

XPO1

AU060004

chr2:
61913002-61913002

T

C

intergenic

De novo

-

Yuen2017 G

XPO1

DEASD_4031_001

chr2:
61729284-61729284

C

T

intronic

De novo

-

Fu2022 E

XPO1

12052

chr2:
61726859-61726859

A

C

exonic

De novo

nonsynonymous SNV

NM_003400

c.T579G

p.H193Q

16.75

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

XPO1

A18

chr2:
61704940-61704941

AG

A

downstream

De novo

-

Wu2018 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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