Variant Results

or

Results for "DYNC1H1"

Variant Events: 61

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

DYNC1H1

SP0129616

chr14:
102476663-102476663

G

A

exonic

De novo

nonsynonymous SNV

NM_001376

c.G6272A

p.R2091Q

36.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

DYNC1H1

SP0051605

chr14:
102476312-102476312

G

C

exonic

De novo

nonsynonymous SNV

NM_001376

c.G6110C

p.R2037P

33.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

DYNC1H1

SP0047169

chr14:
102482686-102482686

C

T

exonic

De novo

stopgain

NM_001376

c.C7474T

p.R2492X

48.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

DYNC1H1

SP0082143

chr14:
102477081-102477081

T

C

exonic

De novo

nonsynonymous SNV

NM_001376

c.T6410C

p.L2137P

17.28

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

DYNC1H1

SP0358743

chr14:
102514907-102514907

C

T

exonic

stopgain

NM_001376

c.C13273T

p.Q4425X

54.0

-

Zhou2022 GE

DYNC1H1

SP0236484

chr14:
102510979-102510979

C

T

exonic

nonsynonymous SNV

NM_001376

c.C12950T

p.T4317M

24.6

2.473E-5

Zhou2022 GE

DYNC1H1

SP0128353

chr14:
102467295-102467295

G

A

exonic

De novo

nonsynonymous SNV

NM_001376

c.G4079A

p.R1360Q

37.0

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

DYNC1H1

SP0136861

chr14:
102446121-102446121

A

T

exonic

De novo

nonsynonymous SNV

NM_001376

c.A584T

p.H195L

26.8

-

Antaki2022 GE
Fu2022 E
Zhou2022 GE

DYNC1H1

Chen2017:59

chr14:
102508760-102508760

G

A

exonic

De novo

stopgain

NM_001376

c.G12315A

p.W4105X

55.0

-

Chen2017 E

DYNC1H1

Li2017:16223

chr14:
102452925-102452925

A

G

exonic

Unknown

nonsynonymous SNV

NM_001376

c.A2363G

p.Y788C

20.2

-

Li2017 T

DYNC1H1

2-1163-003

chr14:
102460577-102460577

A

G

exonic

De novo

synonymous SNV

NM_001376

c.A3072G

p.T1024T

-

Yuen2016 G
Yuen2017 G
Zhou2022 GE

DYNC1H1

SP0100438

chr14:
102504810-102504810

A

ACGAT

exonic

De novo

frameshift insertion

NM_001376

c.10922_10923insCGAT

p.Y3641fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

DYNC1H1

SP0136277

chr14:
102502939-102502943

TAGAG

T

exonic

De novo

frameshift deletion

NM_001376

c.10869_10872del

p.L3623fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

DYNC1H1

Husson2020:222

chr14:
102467871-102467871

G

C

splicing

17.95

-

Husson2020 E

DYNC1H1

P001

chr14:
102466482-102466482

G

A

splicing

De novo

splicing

21.8

-

Long2019 ET

DYNC1H1

TRE_111

chr14:
102478326-102478326

G

A

exonic

De novo

nonsynonymous SNV

NM_001376

c.G6733A

p.E2245K

36.0

-

Fu2022 E

DYNC1H1

TRE_2526

chr14:
102478297-102478297

G

A

exonic

De novo

nonsynonymous SNV

NM_001376

c.G6704A

p.R2235H

33.0

2.472E-5

Fu2022 E

DYNC1H1

Mahjani2021:59

chr14:
102471145-102471145

A

G

exonic

nonsynonymous SNV

NM_001376

c.A5096G

p.N1699S

25.1

-

Mahjani2021 E

DYNC1H1

SSC06712

chr14:
102514235-102514235

A

C

exonic

De novo

nonsynonymous SNV

NM_001376

c.A13088C

p.K4363T

12.58

7.436E-5

Fu2022 E
Trost2022 G

DYNC1H1

TRE_413

chr14:
102467543-102467543

T

C

exonic

De novo

nonsynonymous SNV

NM_001376

c.T4247C

p.L1416P

25.6

-

Fu2022 E

DYNC1H1

Mahjani2021:55

chr14:
102469160-102469160

A

C

exonic

nonsynonymous SNV

NM_001376

c.A4741C

p.K1581Q

32.0

-

Mahjani2021 E

DYNC1H1

200675496_1082035033

chr14:
102508760-102508760

G

A

exonic

De novo

stopgain

NM_001376

c.G12315A

p.W4105X

55.0

-

Fu2022 E

DYNC1H1

4-0022-003

chr14:
102463376-102463376

A

ACCGCAATGG

exonic

De novo

nonframeshift insertion

NM_001376

c.3569_3570insCCGCAATGG

p.Y1190delinsYRNG

-

Trost2022 G
Zhou2022 GE

DYNC1H1

1-0589-003

chr14:
102449507-102449507

A

T

exonic

De novo

nonsynonymous SNV

NM_001376

c.A1113T

p.K371N

16.21

-

Trost2022 G
Zhou2022 GE

DYNC1H1

Mahjani2021:62

chr14:
102494428-102494428

C

T

exonic

nonsynonymous SNV

NM_001376

c.C9418T

p.R3140W

17.88

-

Mahjani2021 E

DYNC1H1

NDAR_INVLB835LVY_wes1

chr14:
102453029-102453029

G

T

exonic

De novo

nonsynonymous SNV

NM_001376

c.G2467T

p.V823L

12.98

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DYNC1H1

Mahjani2021:64

chr14:
102495928-102495928

G

A

exonic

nonsynonymous SNV

NM_001376

c.G9521A

p.R3174H

36.0

-

Mahjani2021 E

DYNC1H1

09C80249

chr14:
102478291-102478291

C

T

exonic

De novo

nonsynonymous SNV

NM_001376

c.C6698T

p.A2233V

32.0

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DYNC1H1

DEASD_0251_001

chr14:
102483206-102483206

A

G

exonic

De novo

nonsynonymous SNV

NM_001376

c.A7718G

p.D2573G

26.1

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DYNC1H1

SP0055280

chr14:
102460982-102460982

A

G

intronic

De novo

-

2.477E-5

Fu2022 E

DYNC1H1

NDAR_INVYH284TCH_wes1

chr14:
102510723-102510723

A

T

exonic

De novo

nonsynonymous SNV

NM_001376

c.A12797T

p.N4266I

16.03

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DYNC1H1

SP0010010

chr14:
102515904-102515904

C

T

exonic

De novo

synonymous SNV

NM_001376

c.C13500T

p.G4500G

-

1.65E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DYNC1H1

SSC02973

chr14:
102508461-102508461

G

A

exonic

De novo

nonsynonymous SNV

NM_001376

c.G12214A

p.G4072S

34.0

-

Fu2022 E
Lim2017 E
Trost2022 G

DYNC1H1

SP0008110

chr14:
102471655-102471655

A

T

intronic

De novo

-

Fu2022 E

DYNC1H1

14015.p1

chr14:
102446851-102446851

C

T

exonic

De novo

nonsynonymous SNV

NM_001376

c.C925T

p.R309C

26.5

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Turner2016 G
Zhou2022 GE

DYNC1H1

2-0129-004

chr14:
102441775-102441775

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC1H1

SSC10335

chr14:
102446851-102446851

C

T

exonic

De novo

nonsynonymous SNV

NM_001376

c.C925T

p.R309C

26.5

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

DYNC1H1

SP0144774

chr14:
102471614-102471614

T

G

intronic

De novo

-

Fu2022 E

DYNC1H1

3-0467-000

chr14:
102506953-102506955

GAC

G

exonic

De novo

frameshift deletion

NM_001376

c.11885_11886del

p.D3962fs

-

Trost2022 G
Zhou2022 GE

DYNC1H1

SP0082143

chr14:
102476731-102476731

G

A

exonic

De novo

nonsynonymous SNV

NM_001376

c.G6340A

p.E2114K

15.38

-

Trost2022 G
Zhou2022 GE

DYNC1H1

SP0057637

chr14:
102498805-102498805

G

C

splicing

De novo

splicing

21.1

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DYNC1H1

3-0543-000

chr14:
102510258-102510258

A

G

exonic

De novo

nonsynonymous SNV

NM_001376

c.A12560G

p.H4187R

21.0

-

Trost2022 G
Zhou2022 GE

DYNC1H1

7-0100-004

chr14:
102489910-102489910

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC1H1

More2023:15

chr14:
102509021-102509021

C

T

exonic

De novo

nonsynonymous SNV

NM_001376

c.C12449T

p.P4150L

26.1

-

More2023 G

DYNC1H1

SP0226577

chr14:
102500831-102500831

G

A

intronic

De novo

-

Trost2022 G

DYNC1H1

3-0352-000

chr14:
102513909-102513909

T

TA

intronic

De novo

-

Trost2022 G

DYNC1H1

SP0195357

chr14:
102442053-102442053

C

T

exonic

De novo

synonymous SNV

NM_001376

c.C261T

p.D87D

-

4.965E-5

Trost2022 G

DYNC1H1

SP0160594

chr14:
102482471-102482471

A

G

intronic

De novo

-

Trost2022 G

DYNC1H1

MSSNG00430-003

chr14:
102433172-102433172

G

A

intronic

De novo

-

Trost2022 G

DYNC1H1

08C78491

chr14:
102460577-102460577

A

G

exonic

De novo

synonymous SNV

NM_001376

c.A3072G

p.T1024T

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DYNC1H1

1-0862-003

chr14:
102493980-102493980

G

A

exonic

De novo

nonsynonymous SNV

NM_001376

c.G9073A

p.E3025K

36.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

DYNC1H1

200675496@1082035033

chr14:
102508760-102508760

G

A

exonic

De novo

stopgain

NM_001376

c.G12315A

p.W4105X

55.0

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DYNC1H1

1-0585-003

chr14:
102487616-102487616

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC1H1

1-0048-003

chr14:
102457686-102457686

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC1H1

Wang2023:352

chr14:
102510939-102510939

G

T

exonic

De novo

stopgain

NM_001376

c.G12910T

p.E4304X

55.0

-

Wang2023 E

DYNC1H1

11434.p1

chr14:
102508461-102508461

G

A

exonic

De novo

nonsynonymous SNV

NM_001376

c.G12214A

p.G4072S

34.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

DYNC1H1

AU2000305

chr14:
102490323-102490323

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DYNC1H1

13094.p1

chr14:
102514235-102514235

A

C

exonic

De novo

nonsynonymous SNV

NM_001376

c.A13088C

p.K4363T

12.58

7.436E-5

Satterstrom2020 E
Zhou2022 GE

DYNC1H1

SP0251265

chr14:
102452394-102452394

G

A

exonic

De novo

nonsynonymous SNV

NM_001376

c.G1832A

p.R611H

19.15

-

Trost2022 G
Zhou2022 GE

DYNC1H1

SP0201944

chr14:
102431084-102431084

C

T

exonic

De novo

nonsynonymous SNV

NM_001376

c.C56T

p.S19L

19.38

-

Trost2022 G
Zhou2022 GE

DYNC1H1

AU024004

chr14:
102531273-102531273

G

C

intergenic

De novo

-

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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