Variant Results

or

or

Results for "EXD1"

Variant Events: 19

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

EXD1

mAGRE2424

chr15:
41483774-41483775

CA

C

exonic

Maternal

frameshift deletion

NM_152596
NM_001286441

c.555delT
c.729delT

p.D185fs
p.D243fs

-

-

Cirnigliaro2023 G

EXD1

mAGRE5690

chr15:
41476470-41476470

C

A

exonic

Paternal

stopgain

NM_152596
NM_001286441

c.G1204T
c.G1378T

p.E402X
p.E460X

22.1

Cirnigliaro2023 G

EXD1

3-0322-000

chr15:
41512934-41512934

A

G

intronic

De novo

-

-

Trost2022 G

EXD1

mAGRE5689

chr15:
41476470-41476470

C

A

exonic

Paternal

stopgain

NM_152596
NM_001286441

c.G1204T
c.G1378T

p.E402X
p.E460X

22.1

Cirnigliaro2023 G

EXD1

MSSNG00428-003

chr15:
41516302-41516302

T

A

intronic

De novo

-

-

Trost2022 G

EXD1

AU3782302

chr15:
41476398-41476398

G

A

exonic

Paternal

stopgain

NM_152596
NM_001286441

c.C1276T
c.C1450T

p.Q426X
p.Q484X

33.0

Cirnigliaro2023 G

EXD1

1-0541-004

chr15:
41498655-41498655

C

CAG

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EXD1

SP0024380

chr15:
41476734-41476734

G

A

exonic

De novo

nonsynonymous SNV

NM_152596
NM_001286441

c.C940T
c.C1114T

p.R314C
p.R372C

25.9

Fu2022 E
Trost2022 G
Zhou2022 GE

EXD1

AU2988303

chr15:
41502670-41502670

G

A

intronic

De novo

-

-

Yuen2017 G

EXD1

AU2988302

chr15:
41502670-41502670

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

EXD1

2-1635-004

chr15:
41507472-41507479

AACTTTGT

TAAAAA

intronic

De novo

-

-

Trost2022 G

EXD1

12618.p1

chr15:
41507930-41507930

C

A

intronic

Mosaic

-

-

Dou2017 E

EXD1

2-1635-004

chr15:
41507482-41507484

TGA

T

intronic

De novo

-

-

Trost2022 G

EXD1

7-0321-003A

chr15:
41494373-41494373

A

T

intronic

De novo

-

-

Trost2022 G

EXD1

MT_21.3

chr15:
41497785-41497785

G

A

intronic

De novo

-

-

Trost2022 G

EXD1

A31

chr15:
41522941-41522941

C

T

UTR5

De novo

-

-

Wu2018 G

EXD1

2-1232-003

chr15:
41490026-41490026

G

A

intronic

De novo

-

-

Trost2022 G

EXD1

AU4246304

chr15:
41492035-41492037

GAT

G

intronic

De novo

-

-

Trost2022 G

EXD1

iHART2424

chr15:
41483774-41483775

CA

C

exonic

Maternal

frameshift deletion

NM_152596
NM_001286441

c.555delT
c.729delT

p.D185fs
p.D243fs

-

-

Ruzzo2019 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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