Variant Results

or

Results for "NEB"

Variant Events: 65

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

NEB

SSC06883

chr2:
152512435-152512435

T

C

exonic

De novo

nonsynonymous SNV

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.A6598G
c.A6598G
c.A6598G
c.A6598G

p.S2200G
p.S2200G
p.S2200G
p.S2200G

22.9

-

Fu2022 E
Lim2017 E
Trost2022 G

NEB

AU4237304

chr2:
152544248-152544248

C

G

splicing

Paternal

splicing

21.7

-

Cirnigliaro2023 G

NEB

mAGRE4023

chr2:
152410386-152410386

G

A

exonic

Paternal

stopgain

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.C14443T
c.C19582T
c.C19582T
c.C19582T

p.Q4815X
p.Q6528X
p.Q6528X
p.Q6528X

54.0

-

Cirnigliaro2023 G

NEB

mAGRE5891

chr2:
152361990-152361990

A

G

splicing

Paternal

splicing

18.14

1.657E-5

Cirnigliaro2023 G

NEB

mAGRE5890

chr2:
152361990-152361990

A

G

splicing

Paternal

splicing

18.14

1.657E-5

Cirnigliaro2023 G

NEB

mAGRE2230

chr2:
152361990-152361990

A

G

splicing

Maternal

splicing

18.14

1.657E-5

Cirnigliaro2023 G

NEB

13080.p1

chr2:
152512435-152512435

T

C

exonic

De novo

nonsynonymous SNV

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.A6598G
c.A6598G
c.A6598G
c.A6598G

p.S2200G
p.S2200G
p.S2200G
p.S2200G

22.9

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NEB

2-0215-003

chr2:
152504585-152504587

AAG

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NEB

Li2017:19574

chr2:
152388388-152388388

T

C

exonic

Unknown

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.A16301G
c.A21440G
c.A21440G
c.A21545G

p.E5434G
p.E7147G
p.E7147G
p.E7182G

32.0

-

Li2017 T

NEB

Al-Mubarak2017:ASD-39

chr2:
152518680-152518680

A

G

exonic

Unknown

nonsynonymous SNV

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.T5939C
c.T5939C
c.T5939C
c.T5939C

p.L1980S
p.L1980S
p.L1980S
p.L1980S

22.3

3.0E-4

Al-Mubarak2017 E

NEB

163218_0

chr2:
152484156-152484156

T

C

exonic

De novo

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.A9259G
c.A10024G
c.A10024G
c.A10024G

p.K3087E
p.K3342E
p.K3342E
p.K3342E

27.9

8.28E-6

Fu2022 E

NEB

Li2017:23065

chr2:
152388389-152388389

C

T

exonic

Unknown

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.G16300A
c.G21439A
c.G21439A
c.G21544A

p.E5434K
p.E7147K
p.E7147K
p.E7182K

36.0

-

Li2017 T

NEB

1-0248-003

chr2:
152354959-152354963

AGAGT

AGAGTGAGT

intronic

De novo

-

Yuen2017 G

NEB

1-0285-004

chr2:
152582645-152582645

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NEB

SP0170928

chr2:
152342260-152342260

A

G

UTR3

De novo

-

Trost2022 G

NEB

SP0157994

chr2:
152354148-152354148

T

C

exonic

De novo

nonsynonymous SNV

NM_001164507
NM_001164508
NM_001271208

c.A24292G
c.A24292G
c.A24397G

p.I8098V
p.I8098V
p.I8133V

3.409

3.31E-5

Trost2022 G

NEB

MSSNG00327-003

chr2:
152495530-152495530

C

CA

intronic

De novo

-

Trost2022 G

NEB

SP0154906

chr2:
152499805-152499805

G

A

exonic

De novo

synonymous SNV

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.C8019T
c.C8019T
c.C8019T
c.C8019T

p.L2673L
p.L2673L
p.L2673L
p.L2673L

-

3.316E-5

Trost2022 G

NEB

AU3727303

chr2:
152558165-152558165

G

A

intronic

De novo

-

Yuen2017 G

NEB

SP0126421

chr2:
152474971-152474971

C

T

exonic

De novo

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.G10129A
c.G10894A
c.G10894A
c.G10894A

p.E3377K
p.E3632K
p.E3632K
p.E3632K

20.8

-

Trost2022 G

NEB

MSSNG00047-004A

chr2:
152490695-152490695

C

T

intronic

De novo

-

Trost2022 G

NEB

10-1149-003

chr2:
152411076-152411076

A

G

intronic

De novo

-

Trost2022 G

NEB

SP0188796

chr2:
152425137-152425137

C

T

exonic

De novo

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.G12490A
c.G17629A
c.G17629A
c.G17629A

p.D4164N
p.D5877N
p.D5877N
p.D5877N

3.735

4.267E-5

Trost2022 G

NEB

SP0021653

chr2:
152354657-152354657

T

TATAAG

intronic

De novo

-

Trost2022 G

NEB

Li2017:17508

chr2:
152520238-152520238

C

A

exonic

Unknown

stopgain

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.G5587T
c.G5587T
c.G5587T
c.G5587T

p.E1863X
p.E1863X
p.E1863X
p.E1863X

47.0

-

Li2017 T

NEB

3-0719-000

chr2:
152387108-152387108

A

T

intronic

De novo

-

Trost2022 G

NEB

MSSNG00089-003

chr2:
152571134-152571134

G

C

intronic

De novo

-

Trost2022 G

NEB

5-0128-003

chr2:
152536545-152536546

GA

G

intronic

De novo

-

2.663E-5

Trost2022 G

NEB

Li2017:17585

chr2:
152524365-152524365

C

T

exonic

Unknown

nonsynonymous SNV

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.G4672A
c.G4672A
c.G4672A
c.G4672A

p.A1558T
p.A1558T
p.A1558T
p.A1558T

32.0

-

Li2017 T

NEB

SP0044781

chr2:
152552110-152552110

A

ATAAC

exonic

De novo

frameshift insertion

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.1655_1656insGTTA
c.1655_1656insGTTA
c.1655_1656insGTTA
c.1655_1656insGTTA

p.N552fs
p.N552fs
p.N552fs
p.N552fs

-

Trost2022 G

NEB

Li2017:17574

chr2:
152352831-152352831

C

T

exonic

Unknown

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.G18841A
c.G24445A
c.G24445A
c.G24550A

p.E6281K
p.E8149K
p.E8149K
p.E8184K

25.2

3.065E-5

Li2017 T

NEB

1-0387-003

chr2:
152424685-152424685

T

C

exonic

De novo

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.A12605G
c.A17744G
c.A17744G
c.A17744G

p.Y4202C
p.Y5915C
p.Y5915C
p.Y5915C

25.7

-

Yuen2016 G
Yuen2017 G
Zhou2022 GE

NEB

MSSNG00352-004

chr2:
152506767-152506767

C

G

exonic

De novo

nonsynonymous SNV

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.G7354C
c.G7354C
c.G7354C
c.G7354C

p.D2452H
p.D2452H
p.D2452H
p.D2452H

17.97

-

Trost2022 G

NEB

MSSNG00029-004

chr2:
152511612-152511612

T

C

intronic

De novo

-

Trost2022 G

NEB

11625.p1

chr2:
152425538-152425538

G

C

intronic

De novo

-

Wilfert2021 G

NEB

14523.p1

chr2:
152403966-152403966

A

G

exonic

De novo

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.T15205C
c.T20344C
c.T20344C
c.T20344C

p.Y5069H
p.Y6782H
p.Y6782H
p.Y6782H

18.84

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

NEB

Li2017:17593

chr2:
152470807-152470807

A

G

exonic

Unknown

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.T10819C
c.T11584C
c.T11584C
c.T11584C

p.Y3607H
p.Y3862H
p.Y3862H
p.Y3862H

20.3

-

Li2017 T

NEB

08C74775

chr2:
152512711-152512711

T

C

exonic

De novo

nonsynonymous SNV

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.A6451G
c.A6451G
c.A6451G
c.A6451G

p.M2151V
p.M2151V
p.M2151V
p.M2151V

13.46

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NEB

Li2017:23278

chr2:
152492740-152492740

C

T

splicing

Unknown

splicing

16.04

-

Li2017 T

NEB

MSSNG00088-003

chr2:
152404183-152404183

G

A

exonic

De novo

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.C15088T
c.C20227T
c.C20227T
c.C20227T

p.R5030C
p.R6743C
p.R6743C
p.R6743C

25.7

7.56E-5

Trost2022 G
Zhou2022 GE

NEB

2-1406-003

chr2:
152579310-152579310

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NEB

SP0028441

chr2:
152534415-152534415

T

C

exonic

De novo

nonsynonymous SNV

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.A3542G
c.A3542G
c.A3542G
c.A3542G

p.K1181R
p.K1181R
p.K1181R
p.K1181R

10.9

-

Trost2022 G
Zhou2022 GE

NEB

Li2017:17671

chr2:
152426863-152426863

A

T

exonic

Unknown

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.T12023A
c.T17162A
c.T17162A
c.T17162A

p.V4008E
p.V5721E
p.V5721E
p.V5721E

27.7

-

Li2017 T

NEB

AU061104

chr2:
152580263-152580264

TG

T

intronic

De novo

-

Yuen2017 G

NEB

AU3122301

chr2:
152631450-152631450

A

G

intergenic

De novo

-

Yuen2017 G

NEB

AU3721302

chr2:
152433855-152433855

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NEB

1-0467-005

chr2:
152371231-152371235

CAGTT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NEB

SP0044781

chr2:
152552112-152552115

TGAC

AACTTGAG

exonic

frameshift substitution

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.1651_1654CTCAAGTT
c.1651_1654CTCAAGTT
c.1651_1654CTCAAGTT
c.1651_1654CTCAAGTT

N/A
N/A
N/A
N/A

-

Zhou2022 GE

NEB

5-0045-003

chr2:
152457981-152457981

T

A

intronic

De novo

-

Yuen2017 G

NEB

14523_p1

chr2:
152403966-152403966

A

G

exonic

De novo

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.T15205C
c.T20344C
c.T20344C
c.T20344C

p.Y5069H
p.Y6782H
p.Y6782H
p.Y6782H

18.84

-

Fu2022 E

NEB

392_2013

chr2:
152387558-152387558

C

T

exonic

De novo

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.G16441A
c.G21580A
c.G21580A
c.G21685A

p.D5481N
p.D7194N
p.D7194N
p.D7229N

36.0

-

Fu2022 E

NEB

Cukier2014:37674

chr2:
152468776-152468776

T

C

exonic

Unknown

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.A10964G
c.A11729G
c.A11729G
c.A11729G

p.D3655G
p.D3910G
p.D3910G
p.D3910G

15.55

0.0149

Cukier2014 E

NEB

SP0035848

chr2:
152496641-152496641

A

G

intronic

De novo

-

Fu2022 E

NEB

SP0053757

chr2:
152364639-152364639

A

C

intronic

De novo

-

Fu2022 E

NEB

SP0139126

chr2:
152507453-152507453

A

C

intronic

De novo

-

Fu2022 E

NEB

A27

chr2:
152478813-152478813

A

G

intronic

De novo

-

Wu2018 G

NEB

SP0038881

chr2:
152496782-152496782

T

G

intronic

De novo

-

Fu2022 E

NEB

SP0103309

chr2:
152348915-152348915

G

A

exonic

De novo

nonsynonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.C19255T
c.C24859T
c.C24859T
c.C24964T

p.R6419W
p.R8287W
p.R8287W
p.R8322W

20.3

2.565E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

NEB

150468

chr2:
152409267-152409267

C

T

exonic

De novo

synonymous SNV

NM_004543
NM_001164507
NM_001164508
NM_001271208

c.G14616A
c.G19755A
c.G19755A
c.G19755A

p.L4872L
p.L6585L
p.L6585L
p.L6585L

-

Fu2022 E

NEB

SP0101112

chr2:
152548439-152548439

T

C

exonic

De novo

nonsynonymous SNV

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.A2150G
c.A2150G
c.A2150G
c.A2150G

p.Y717C
p.Y717C
p.Y717C
p.Y717C

15.44

3.843E-5

Fu2022 E
Zhou2022 GE

NEB

SP0081554

chr2:
152529002-152529002

T

C

exonic

De novo

nonsynonymous SNV

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.A4180G
c.A4180G
c.A4180G
c.A4180G

p.K1394E
p.K1394E
p.K1394E
p.K1394E

23.2

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NEB

SP0034786

chr2:
152460126-152460126

G

A

exonic

De novo

nonsynonymous SNV

NM_001164507
NM_001164508
NM_001271208

c.C13220T
c.C13220T
c.C13220T

p.P4407L
p.P4407L
p.P4407L

10.2

-

Fu2022 E

NEB

14256.p1

chr2:
152543981-152543981

G

A

exonic

Mosaic

synonymous SNV

NM_001164507
NM_001164508
NM_001271208
NM_004543

c.C2589T
c.C2589T
c.C2589T
c.C2589T

p.D863D
p.D863D
p.D863D
p.D863D

-

1.0E-4

Krupp2017 E

NEB

iHART3308

chr2:
152544248-152544248

C

G

splicing

Paternal

splicing

21.7

-

Ruzzo2019 G

NEB

iHART2230

chr2:
152361990-152361990

A

G

splicing

Maternal

splicing

18.14

1.657E-5

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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