Variant Results

or

Results for "KITLG"

Variant Events: 36

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

KITLG

1-0181-004

chr12:
89324720-89324720

A

G

intergenic

De novo

-

Yuen2017 G

KITLG

2-1730-003

chr12:
89148421-89148421

T

C

intergenic

De novo

-

Yuen2017 G

KITLG

AU4072303

chr12:
89081498-89081498

A

G

intergenic

De novo

-

Yuen2017 G

KITLG

1-0571-003

chr12:
89384893-89384893

T

C

intergenic

De novo

-

Yuen2017 G

KITLG

AU3900301

chr12:
89275840-89275840

G

A

intergenic

De novo

-

Yuen2017 G

KITLG

7-0106-003

chr12:
89134049-89134055

GAGAAGA

GAGA

intergenic

De novo

-

Yuen2017 G

KITLG

AU017304

chr12:
89390507-89390507

C

T

intergenic

De novo

-

Yuen2017 G

KITLG

2-1239-003

chr12:
89380670-89380670

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KITLG

2-1459-003

chr12:
88928332-88928332

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

KITLG

AU4186302

chr12:
89116596-89116596

C

T

intergenic

De novo

-

Yuen2017 G

KITLG

2-1223-003

chr12:
89087104-89087107

CATA

CA

intergenic

De novo

-

Yuen2017 G

KITLG

2-0256-004

chr12:
89253465-89253465

G

A

intergenic

De novo

-

Yuen2017 G

KITLG

AU2863302

chr12:
89384070-89384070

T

G

intergenic

De novo

-

Yuen2017 G

KITLG

5-0077-004

chr12:
89358496-89358496

T

A

intergenic

De novo

-

Yuen2017 G

KITLG

AU3175302

chr12:
89117603-89117603

G

A

intergenic

De novo

-

Yuen2017 G

KITLG

AU3716301

chr12:
89096675-89096681

AATATAT

AATATATAT

intergenic

De novo

-

Yuen2017 G

KITLG

AU3764302

chr12:
89289717-89289717

A

T

intergenic

De novo

-

Yuen2017 G

KITLG

3-0661-000

chr12:
89373572-89373572

C

T

intergenic

De novo

-

Yuen2017 G

KITLG

2-1299-003

chr12:
89166574-89166574

T

TTATAATG

intergenic

De novo

-

Yuen2017 G

KITLG

AU038204

chr12:
89109951-89109951

C

T

intergenic

De novo

-

Yuen2017 G

KITLG

AU3903301

chr12:
89270973-89270973

C

T

intergenic

De novo

-

Yuen2017 G

KITLG

A26

chr12:
88955063-88955063

A

G

intronic

De novo

-

Wu2018 G

KITLG

2-1213-003

chr12:
89038968-89038968

G

A

intergenic

De novo

-

Yuen2017 G

KITLG

AU3997301

chr12:
88920100-88920100

T

A

intronic

De novo

-

Yuen2017 G

KITLG

A23

chr12:
88962505-88962505

T

C

intronic

De novo

-

Wu2018 G

KITLG

7-0012-003

chr12:
88999481-88999481

G

A

intergenic

De novo

-

Yuen2017 G

KITLG

SP0014123

chr12:
88910178-88910178

G

A

exonic

De novo

synonymous SNV

NM_000899
NM_003994

c.C453T
c.C453T

p.F151F
p.F151F

-

Fu2022 E

KITLG

1-0381-003

chr12:
89037261-89037261

G

A

intergenic

De novo

-

Yuen2017 G

KITLG

2-1456-003

chr12:
89397027-89397027

C

T

intergenic

De novo

-

Yuen2017 G

KITLG

1-0025-004

chr12:
89001075-89001075

A

G

intergenic

De novo

-

Yuen2017 G

KITLG

AU075210

chr12:
89064350-89064350

G

A

intergenic

De novo

-

Yuen2017 G

KITLG

2-0043-003

chr12:
89038113-89038113

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

KITLG

AU4392302

chr12:
88930389-88930389

A

G

intronic

De novo

-

Yuen2017 G

KITLG

2-1325-003

chr12:
89225951-89225951

A

G

intergenic

De novo

-

Yuen2017 G

KITLG

1-0826-004

chr12:
89076203-89076203

C

T

intergenic

De novo

-

Yuen2017 G

KITLG

11729.p1

chr12:
89261882-89261882

A

T

intergenic

De novo

-

Wilfert2021 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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