Variant Results

or

Results for "NNT"

Variant Events: 63

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

NNT

7-0344-003

chr5:
43614541-43614541

A

C

intronic

De novo

-

Trost2022 G

NNT

AU0780301

chr5:
43880872-43880872

T

C

intergenic

De novo

-

Yuen2017 G

NNT

1-0052-004

chr5:
43622445-43622446

AG

TA

intronic

De novo

-

Trost2022 G

NNT

7-0286-004A

chr5:
43603497-43603497

C

T

intronic

De novo

-

Trost2022 G

NNT

1-1121-003

chr5:
43607671-43607671

G

A

intronic

De novo

-

Trost2022 G

NNT

2-1376-003

chr5:
44282845-44282845

G

A

intergenic

De novo

-

Yuen2017 G

NNT

1-0358-003

chr5:
44125712-44125712

T

TGGAACAA

intergenic

De novo

-

Yuen2017 G

NNT

4-0043-003

chr5:
43700525-43700525

G

A

intronic

De novo

-

Trost2022 G

NNT

2-1411-003

chr5:
43731339-43731339

C

CTT

intergenic

De novo

-

Yuen2017 G

NNT

REACH000414

chr5:
44301673-44301673

C

G

intergenic

De novo

-

Trost2022 G

NNT

AU2950301

chr5:
43670252-43670252

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NNT

1-0628-004A

chr5:
43669594-43669594

A

C

intronic

De novo

-

Trost2022 G

NNT

MSSNG00077-004

chr5:
43700409-43700409

T

C

intronic

De novo

-

Trost2022 G

NNT

1-1112-003

chr5:
43660886-43660886

C

G

intronic

De novo

-

Trost2022 G

NNT

4-0084-003

chr5:
43667671-43667671

T

C

intronic

De novo

-

Trost2022 G

NNT

3-0198-000

chr5:
43631216-43631216

C

T

intronic

De novo

-

Trost2022 G

NNT

MSSNG00213-003

chr5:
43660682-43660682

C

T

intronic

De novo

-

Trost2022 G

NNT

2-1451-003

chr5:
44026098-44026098

C

CCTTGGCAA

intergenic

De novo

-

Yuen2017 G

NNT

PN400359

chr5:
43613185-43613185

A

AG

exonic

Unknown

frameshift insertion

NM_012343
NM_182977

c.328dupG
c.328dupG

p.A109fs
p.A109fs

-

7.265E-5

Leblond2019 E

NNT

PN400348

chr5:
43613185-43613185

A

AG

exonic

Unknown

frameshift insertion

NM_012343
NM_182977

c.328dupG
c.328dupG

p.A109fs
p.A109fs

-

7.265E-5

Leblond2019 E

NNT

3-0018-000

chr5:
43911769-43911769

G

C

intergenic

De novo

-

Yuen2017 G

NNT

CC1147_201

chr5:
43659452-43659452

G

C

exonic

De novo

synonymous SNV

NM_012343
NM_182977

c.G2634C
c.G2634C

p.V878V
p.V878V

-

Fu2022 E

NNT

2-1207-003

chr5:
44240818-44240818

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NNT

2-1594-003

chr5:
43989897-43989897

A

C

intergenic

De novo

-

Yuen2017 G

NNT

PN400260

chr5:
43613185-43613185

A

AG

exonic

Unknown

frameshift insertion

NM_012343
NM_182977

c.328dupG
c.328dupG

p.A109fs
p.A109fs

-

7.265E-5

Leblond2019 E

NNT

SP0030820

chr5:
43624153-43624153

G

T

exonic

De novo

nonsynonymous SNV

NM_012343
NM_182977

c.G707T
c.G707T

p.G236V
p.G236V

31.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NNT

SP0145787

chr5:
43644466-43644466

A

C

intronic

De novo

-

Fu2022 E

NNT

SP0055672

chr5:
43628414-43628414

A

G

exonic

De novo

nonsynonymous SNV

NM_012343
NM_182977

c.A889G
c.A889G

p.I297V
p.I297V

17.48

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NNT

2-0309-004

chr5:
44125529-44125529

G

A

intergenic

De novo

-

Yuen2017 G

NNT

1-0458-003

chr5:
44125707-44125707

A

G

intergenic

De novo

-

Yuen2017 G

NNT

2-1239-003

chr5:
43842767-43842767

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NNT

1-0222-003

chr5:
43694842-43694842

G

T

intronic

De novo

-

Yuen2017 G

NNT

A22

chr5:
44051407-44051407

C

A

intergenic

De novo

-

Wu2018 G

NNT

1-0556-003

chr5:
44219211-44219211

C

T

intergenic

De novo

-

Yuen2017 G

NNT

AU3052303

chr5:
43775134-43775134

C

T

intergenic

De novo

-

Yuen2017 G

NNT

PN400100

chr5:
43613185-43613185

A

AG

exonic

Unknown

frameshift insertion

NM_012343
NM_182977

c.328dupG
c.328dupG

p.A109fs
p.A109fs

-

7.265E-5

Leblond2019 E

NNT

12381.p1

chr5:
43676396-43676396

T

TACTC

intronic

De novo

-

Werling2018 G

NNT

PN400127

chr5:
43613185-43613185

A

AG

exonic

Unknown

frameshift insertion

NM_012343
NM_182977

c.328dupG
c.328dupG

p.A109fs
p.A109fs

-

7.265E-5

Leblond2019 E

NNT

AU056003

chr5:
43684984-43684984

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NNT

AU4015303

chr5:
44175798-44175798

T

C

intergenic

De novo

-

Yuen2017 G

NNT

1-0405-003

chr5:
44125707-44125707

A

G

intergenic

De novo

-

Yuen2017 G

NNT

2-1429-003

chr5:
44188700-44188700

T

C

intergenic

De novo

-

Yuen2017 G

NNT

2-1140-003

chr5:
43700394-43700394

T

C

intronic

De novo

-

Yuen2017 G

NNT

AU3649304

chr5:
44031499-44031499

C

A

intergenic

De novo

-

Yuen2017 G

NNT

AU072504

chr5:
43718349-43718349

C

T

intergenic

De novo

-

Yuen2017 G

NNT

PN400495

chr5:
43613185-43613185

A

AG

exonic

Unknown

frameshift insertion

NM_012343
NM_182977

c.328dupG
c.328dupG

p.A109fs
p.A109fs

-

7.265E-5

Leblond2019 E

NNT

5-0046-003

chr5:
43857317-43857317

G

T

intergenic

De novo

-

Yuen2017 G

NNT

7-0055-003

chr5:
43672354-43672354

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NNT

AU012803

chr5:
43647914-43647914

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NNT

PN400443

chr5:
43613185-43613185

A

AG

exonic

Unknown

frameshift insertion

NM_012343
NM_182977

c.328dupG
c.328dupG

p.A109fs
p.A109fs

-

7.265E-5

Leblond2019 E

NNT

AU3727302

chr5:
43914369-43914369

G

A

intergenic

De novo

-

Yuen2017 G

NNT

AU3727302

chr5:
43914372-43914372

G

A

intergenic

De novo

-

Yuen2017 G

NNT

2-1295-003

chr5:
44042332-44042332

T

C

intergenic

De novo

-

Yuen2017 G

NNT

1-0509-003

chr5:
44176611-44176611

G

A

intergenic

De novo

-

Yuen2017 G

NNT

mAGRE5274

chr5:
43624140-43624144

ATAGT

A

exonic

Maternal

frameshift deletion

NM_012343
NM_182977

c.695_698del
c.695_698del

p.I232fs
p.I232fs

-

Cirnigliaro2023 G

NNT

3-0129-000

chr5:
43624161-43624161

G

A

exonic

De novo

nonsynonymous SNV

NM_012343
NM_182977

c.G715A
c.G715A

p.G239R
p.G239R

35.0

-

Trost2022 G
Zhou2022 GE

NNT

1-0286-004

chr5:
43963914-43963914

A

C

intergenic

De novo

-

Yuen2017 G

NNT

AU1988302

chr5:
43850014-43850014

C

T

intergenic

De novo

-

Yuen2017 G

NNT

2-0028-003

chr5:
43799037-43799037

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NNT

1-0009-004

chr5:
43800437-43800437

C

T

intergenic

De novo

-

Yuen2017 G

NNT

AU3806304

chr5:
43727141-43727141

C

T

intergenic

De novo

-

Yuen2017 G

NNT

2-0197-004

chr5:
43963914-43963914

A

C

intergenic

De novo

-

Yuen2017 G

NNT

2-1336-003

chr5:
43608873-43608873

C

T

intronic

De novo

-

Trost2022 G
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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