Variant Results

or

Results for "SPEG"

Variant Events: 41

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

SPEG

3C567

chr2:
220352979-220352979

C

T

exonic

De novo

nonsynonymous SNV

NM_005876

c.C7805T

p.T2602I

16.66

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPEG

11516.p1

chr2:
220333287-220333287

C

T

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SPEG

14572.p1

chr2:
220341659-220341659

G

T

exonic

De novo

synonymous SNV

NM_005876

c.G4515T

p.A1505A

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SPEG

14342.p1

chr2:
220342027-220342027

A

T

exonic

De novo

nonsynonymous SNV

NM_005876

c.A4589T

p.H1530L

17.74

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPEG

2-1719-003

chr2:
220310195-220310195

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPEG

2-1250-003

chr2:
220300405-220300422

CTCCTGGGGGAAAGGGTG

C

intronic

De novo

-

Yuen2017 G

SPEG

11715.p1

chr2:
220336637-220336637

G

A

exonic

Mosaic

nonsynonymous SNV

NM_005876

c.G3763A

p.A1255T

20.6

8.327E-6

Dou2017 E

SPEG

SSC00932

chr2:
220333287-220333287

C

T

intronic

De novo

-

Trost2022 G

SPEG

SSC02682

chr2:
220336553-220336553

G

A

intronic

De novo

-

2.518E-5

Trost2022 G

SPEG

MSSNG00333-003

chr2:
220320064-220320064

A

G

intronic

De novo

-

Trost2022 G

SPEG

AU024104

chr2:
220300161-220300161

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPEG

11484.p1

chr2:
220336553-220336553

G

A

intronic

De novo

-

2.518E-5

Satterstrom2020 E

SPEG

1-0655-003

chr2:
220330524-220330534

CGTGCATGTGT

C

intronic

De novo

-

Trost2022 G

SPEG

1-1154-003

chr2:
220326659-220326659

C

T

exonic

De novo

synonymous SNV

NM_005876

c.C2496T

p.S832S

-

Trost2022 G
Zhou2022 GE

SPEG

DEASD_1050_001

chr2:
220307856-220307856

T

C

intronic

De novo

10.81

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPEG

REACH000086

chr2:
220310797-220310797

C

T

intronic

De novo

-

Trost2022 G

SPEG

SP0040398

chr2:
220354232-220354232

C

T

exonic

De novo

nonsynonymous SNV

NM_005876

c.C8492T

p.A2831V

7.119

1.677E-5

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

SPEG

AU008505

chr2:
220334022-220334022

C

T

exonic

De novo

synonymous SNV

NM_005876

c.C3636T

p.T1212T

-

8.418E-6

Trost2022 G
Zhou2022 GE

SPEG

SP0088384

chr2:
220345970-220345970

T

G

intronic

De novo

-

Fu2022 E

SPEG

PN400512

chr2:
220342126-220342126

C

T

exonic

Unknown

nonsynonymous SNV

NM_005876

c.C4688T

p.A1563V

26.1

0.0024

Leblond2019 E

SPEG

SP0005594

chr2:
220330853-220330853

G

A

UTR3

De novo

-

Fu2022 E
Trost2022 G

SPEG

SP0013518

chr2:
220357486-220357486

G

T

exonic

De novo

nonsynonymous SNV

NM_005876

c.G9782T

p.R3261L

15.81

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SPEG

SP0095955

chr2:
220355528-220355528

C

T

exonic

De novo

nonsynonymous SNV

NM_005876

c.C9235T

p.H3079Y

13.74

4.973E-5

Trost2022 G

SPEG

SP0022760

chr2:
220348531-220348531

C

T

exonic

De novo

nonsynonymous SNV

NM_005876

c.C6346T

p.H2116Y

12.41

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SPEG

SP0142224

chr2:
220357431-220357431

G

A

exonic

De novo

nonsynonymous SNV

NM_005876

c.G9727A

p.G3243S

11.4

-

Trost2022 G

SPEG

SP0092935

chr2:
220330747-220330747

G

A

intronic

De novo

-

Fu2022 E

SPEG

10-1127-003A

chr2:
220338209-220338209

C

T

intronic

De novo

-

8.347E-5

Trost2022 G

SPEG

09C83070

chr2:
220353298-220353298

G

T

exonic

De novo

nonsynonymous SNV

NM_005876

c.G7937T

p.R2646L

14.23

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SPEG

SP0040534

chr2:
220356526-220356526

G

A

exonic

De novo

nonsynonymous SNV

NM_005876

c.G9396A

p.M3132I

15.06

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SPEG

1-0090-003

chr2:
220350361-220350361

G

A

intronic

De novo

-

Trost2022 G

SPEG

08C77997

chr2:
220354457-220354457

T

G

exonic

De novo

nonsynonymous SNV

NM_005876

c.T8717G

p.F2906C

8.679

-

Lim2017 E

SPEG

Lim2017:36903

chr2:
220341659-220341659

G

T

exonic

De novo

synonymous SNV

NM_005876

c.G4515T

p.A1505A

-

Lim2017 E

SPEG

G01-GEA-85-HI

chr2:
220313785-220313785

G

T

exonic

De novo

synonymous SNV

NM_005876

c.G1905T

p.A635A

-

Lim2017 E

SPEG

F10799-1

chr2:
220354380-220354380

G

A

exonic

De novo

synonymous SNV

NM_005876

c.G8640A

p.G2880G

-

Fu2022 E

SPEG

7-0161-003

chr2:
220329308-220329308

C

T

exonic

De novo

synonymous SNV

NM_001173476
NM_005876

c.C312T
c.C2859T

p.C104C
p.C953C

-

8.0E-4

Yuen2017 G
Zhou2022 GE

SPEG

SP0018878

chr2:
220337624-220337624

T

C

exonic

De novo

nonsynonymous SNV

NM_005876

c.T3953C

p.L1318P

14.8

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SPEG

36903

chr2:
220341659-220341659

G

T

exonic

De novo

synonymous SNV

NM_005876

c.G4515T

p.A1505A

-

Fu2022 E
Trost2022 G

SPEG

14342_p1

chr2:
220342027-220342027

A

T

exonic

De novo

nonsynonymous SNV

NM_005876

c.A4589T

p.H1530L

17.74

-

Fu2022 E

SPEG

AU4468301

chr2:
220356765-220356765

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPEG

AU1933301

chr2:
220320901-220320901

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPEG

SP0007121

chr2:
220312856-220312856

G

C

exonic

De novo

nonsynonymous SNV

NM_005876

c.G976C

p.A326P

11.39

-

Feliciano2019 E
Fu2022 E
Zhou2022 GE

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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