Variant Results

or

Results for "FUT8"

Variant Events: 77

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

FUT8

2-1294-003

chr14:
66171172-66171172

T

A

intronic

De novo

-

Trost2022 G

FUT8

AU2129303

chr14:
66739366-66739366

T

C

intergenic

De novo

-

Yuen2017 G

FUT8

AU4260303

chr14:
66387496-66387496

C

G

intergenic

De novo

-

Yuen2017 G

FUT8

1-1090-003

chr14:
66179108-66179108

A

G

intronic

De novo

-

Trost2022 G

FUT8

3-0708-000

chr14:
66085332-66085333

TA

GG

intronic

De novo

-

Trost2022 G

FUT8

1-0098-003A

chr14:
66136226-66136226

C

T

intronic

De novo

-

Trost2022 G

FUT8

4-0073-003

chr14:
66010350-66010350

G

GTT

intronic

De novo

-

Trost2022 G

FUT8

MSSNG00329-004

chr14:
66043196-66043196

A

G

intronic

De novo

-

Trost2022 G

FUT8

7-0462-004

chr14:
65994278-65994278

A

G

intronic

De novo

-

Trost2022 G

FUT8

2-1220-003

chr14:
66313128-66313128

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FUT8

AU050910

chr14:
66696634-66696634

C

T

intergenic

De novo

-

Yuen2017 G

FUT8

AU3900302

chr14:
66699930-66699930

C

A

intergenic

De novo

-

Yuen2017 G

FUT8

2-1464-003

chr14:
65994865-65994865

G

A

intronic

De novo

-

Trost2022 G

FUT8

7-0148-003

chr14:
66849449-66849449

A

G

intergenic

De novo

-

Yuen2017 G

FUT8

2-1644-003

chr14:
66154548-66154548

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

3-0640-000

chr14:
66205210-66205210

C

T

intronic

De novo

-

Trost2022 G

FUT8

1-0079-008

chr14:
66645227-66645227

G

C

intergenic

De novo

-

Yuen2017 G

FUT8

SP0024643

chr14:
66190877-66190877

A

T

exonic

nonsynonymous SNV

NM_004480
NM_178156
NM_178155

c.A606T
c.A1095T
c.A1095T

p.R202S
p.R365S
p.R365S

20.1

-

Zhou2022 GE

FUT8

MSSNG00350-004

chr14:
66189699-66189699

T

C

intronic

De novo

-

Trost2022 G

FUT8

MSSNG00077-005

chr14:
66202084-66202084

T

G

intronic

De novo

-

Trost2022 G

FUT8

1-0404-003

chr14:
66142646-66142646

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

5-0077-004

chr14:
65935277-65935283

CTTAAAG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

2-1336-003

chr14:
66858475-66858475

C

T

intergenic

De novo

-

Yuen2017 G

FUT8

2-0144-004

chr14:
66199905-66199905

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

AU3857301

chr14:
66494332-66494332

G

A

intergenic

De novo

-

Yuen2017 G

FUT8

1-0445-003

chr14:
66758619-66758619

C

T

intergenic

De novo

-

Yuen2017 G

FUT8

AU3648301

chr14:
66826705-66826705

C

T

intergenic

De novo

-

Yuen2017 G

FUT8

2-0142-004

chr14:
66354744-66354744

A

G

intergenic

De novo

-

Yuen2017 G

FUT8

2-1093-009

chr14:
66310293-66310293

C

T

intergenic

De novo

-

Yuen2017 G

FUT8

2-1734-003

chr14:
66673757-66673757

T

C

intergenic

De novo

-

Yuen2017 G

FUT8

1-0377-003

chr14:
66480717-66480717

A

T

intergenic

De novo

-

Yuen2017 G

FUT8

2-1148-004

chr14:
66270435-66270435

G

A

intergenic

De novo

-

Yuen2017 G

FUT8

11008.p1

chr14:
66096265-66096265

C

T

exonic

Mosaic

nonsynonymous SNV

NM_004480
NM_178156
NM_178155

c.C49T
c.C538T
c.C538T

p.R17W
p.R180W
p.R180W

18.9

8.24E-6

Dou2017 E

FUT8

1-0387-003

chr14:
65928091-65928091

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FUT8

7-0183-003

chr14:
66129943-66129943

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

2-1577-003

chr14:
66344013-66344013

G

A

intergenic

De novo

-

Yuen2017 G

FUT8

2-0300-003

chr14:
66258319-66258319

T

TGC

intergenic

De novo

-

Yuen2017 G

FUT8

2-1277-004

chr14:
66012107-66012107

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

2-1142-003

chr14:
66153189-66153189

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

2-1228-003

chr14:
65946333-65946333

C

T

intronic

De novo

-

Yuen2017 G

FUT8

AU4215302

chr14:
66551131-66551131

T

C

intergenic

De novo

-

Yuen2017 G

FUT8

1-0007-003

chr14:
66289437-66289437

T

C

intergenic

De novo

-

Yuen2017 G

FUT8

2-1362-004

chr14:
66623516-66623516

C

T

intergenic

De novo

-

Yuen2017 G

FUT8

AU047704

chr14:
66691174-66691174

A

C

intergenic

De novo

-

Yuen2017 G

FUT8

1-0914-003

chr14:
66950205-66950205

A

G

intergenic

De novo

-

Yuen2017 G

FUT8

AU009903

chr14:
66618103-66618103

G

A

intergenic

De novo

-

Yuen2017 G

FUT8

AU4199303

chr14:
66321276-66321276

G

A

intergenic

De novo

-

Yuen2017 G

FUT8

2-0309-004

chr14:
66685043-66685043

T

A

intergenic

De novo

-

Yuen2017 G

FUT8

12572.p1

chr14:
66899549-66899551

ACT

A

intergenic

De novo

-

Werling2018 G

FUT8

AU4465303

chr14:
66089045-66089045

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

2-1306-004

chr14:
66167353-66167353

G

A

intronic

De novo

-

Yuen2017 G

FUT8

1-0278-003

chr14:
66901312-66901312

T

C

intergenic

De novo

-

Yuen2016 G

FUT8

2-1292-004

chr14:
65879930-65879930

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

AU1223301

chr14:
66121499-66121499

C

T

intronic

De novo

-

Yuen2017 G

FUT8

1-0965-003

chr14:
66170782-66170782

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

5-0050-004

chr14:
66943647-66943647

T

C

intergenic

De novo

-

Yuen2017 G

FUT8

2-1736-003

chr14:
66886314-66886314

A

C

intergenic

De novo

-

Yuen2017 G

FUT8

2-0318-004

chr14:
65951869-65951882

ACATAGTAATACTT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

7-0058-003

chr14:
65941244-65941258

GAGGCAGAGGTTGCA

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

AU053503

chr14:
66510026-66510028

CAG

C

intergenic

De novo

-

Yuen2017 G

FUT8

1-0469-003

chr14:
66230045-66230048

GTTA

G

intergenic

De novo

-

Yuen2017 G

FUT8

1-0388-003

chr14:
66329580-66329580

C

T

intergenic

De novo

-

Yuen2017 G

FUT8

2-1164-003

chr14:
66577134-66577134

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FUT8

1-0433-004

chr14:
65945216-65945216

A

AT

intronic

De novo

-

Yuen2017 G

FUT8

2-1306-003

chr14:
66167353-66167353

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

AU3727303

chr14:
66656632-66656632

G

A

intergenic

De novo

-

Yuen2017 G

FUT8

3-0447-000

chr14:
66369628-66369628

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FUT8

SP0092082

chr14:
66209075-66209075

C

G

exonic

De novo

nonsynonymous SNV

NM_004480
NM_178156
NM_178155

c.C1186G
c.C1675G
c.C1675G

p.R396G
p.R559G
p.R559G

12.93

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FUT8

7-0351-003

chr14:
65930054-65930054

G

A

intronic

De novo

-

Trost2022 G

FUT8

13946.p1

chr14:
66453100-66453100

G

A

intergenic

De novo

-

Turner2016 G

FUT8

4-0046-003

chr14:
65974173-65974176

CCCA

C

intronic

De novo

-

Trost2022 G

FUT8

AU4231301

chr14:
65935810-65935810

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FUT8

2-0205-003

chr14:
65888433-65888433

T

G

intronic

De novo

-

Trost2022 G

FUT8

X3N7Y_01

chr14:
65918921-65918921

T

A

intronic

De novo

-

Trost2022 G

FUT8

11456.p1

chr14:
66466293-66466293

A

G

intergenic

De novo

-

Turner2016 G

FUT8

AU2123301

chr14:
66670603-66670603

C

T

intergenic

De novo

-

Yuen2017 G

FUT8

12795.p1

chr14:
66702692-66702692

G

A

intergenic

De novo

-

Turner2016 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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