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Results for "KITLG"

Variant Events: 35

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     1-0181-004chr12:
89324720-89324720
AGintergenicDe novo--Yuen2017 G
KITLG     2-1730-003chr12:
89148421-89148421
TCintergenicDe novo--Yuen2017 G
KITLG     AU4072303chr12:
89081498-89081498
AGintergenicDe novo--Yuen2017 G
KITLG     1-0571-003chr12:
89384893-89384893
TCintergenicDe novo--Yuen2017 G
KITLG     AU3900301chr12:
89275840-89275840
GAintergenicDe novo--Yuen2017 G
KITLG     7-0106-003chr12:
89134049-89134055
GAGAAGAGAGAintergenicDe novo--Yuen2017 G
KITLG     AU017304chr12:
89390507-89390507
CTintergenicDe novo--Yuen2017 G
KITLG     2-1239-003chr12:
89380670-89380670
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
KITLG     2-1459-003chr12:
88928332-88928332
CTintronicDe novo--Yuen2016 G
Yuen2017 G
KITLG     AU4186302chr12:
89116596-89116596
CTintergenicDe novo--Yuen2017 G
KITLG     2-1223-003chr12:
89087104-89087107
CATACAintergenicDe novo--Yuen2017 G
KITLG     2-0256-004chr12:
89253465-89253465
GAintergenicDe novo--Yuen2017 G
KITLG     AU2863302chr12:
89384070-89384070
TGintergenicDe novo--Yuen2017 G
KITLG     5-0077-004chr12:
89358496-89358496
TAintergenicDe novo--Yuen2017 G
KITLG     AU3175302chr12:
89117603-89117603
GAintergenicDe novo--Yuen2017 G
KITLG     AU3716301chr12:
89096675-89096681
AATATATAATATATATintergenicDe novo--Yuen2017 G
KITLG     AU3764302chr12:
89289717-89289717
ATintergenicDe novo--Yuen2017 G
KITLG     3-0661-000chr12:
89373572-89373572
CTintergenicDe novo--Yuen2017 G
KITLG     2-1299-003chr12:
89166574-89166574
TTTATAATGintergenicDe novo--Yuen2017 G
KITLG     AU038204chr12:
89109951-89109951
CTintergenicDe novo--Yuen2017 G
KITLG     AU3903301chr12:
89270973-89270973
CTintergenicDe novo--Yuen2017 G
KITLG     A26chr12:
88955063-88955063
AGintronicDe novo--Wu2018 G
KITLG     2-1213-003chr12:
89038968-89038968
GAintergenicDe novo--Yuen2017 G
KITLG     AU3997301chr12:
88920100-88920100
TAintronicDe novo--Yuen2017 G
KITLG     A23chr12:
88962505-88962505
TCintronicDe novo--Wu2018 G
KITLG     7-0012-003chr12:
88999481-88999481
GAintergenicDe novo--Yuen2017 G
KITLG     1-0381-003chr12:
89037261-89037261
GAintergenicDe novo--Yuen2017 G
KITLG     2-1456-003chr12:
89397027-89397027
CTintergenicDe novo--Yuen2017 G
KITLG     1-0025-004chr12:
89001075-89001075
AGintergenicDe novo--Yuen2017 G
KITLG     AU075210chr12:
89064350-89064350
GAintergenicDe novo--Yuen2017 G
KITLG     2-0043-003chr12:
89038113-89038113
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
KITLG     AU4392302chr12:
88930389-88930389
AGintronicDe novo--Yuen2017 G
KITLG     2-1325-003chr12:
89225951-89225951
AGintergenicDe novo--Yuen2017 G
KITLG     1-0826-004chr12:
89076203-89076203
CTintergenicDe novo--Yuen2017 G
KITLG     11729.p1chr12:
89261882-89261882
ATintergenicDe novo--Wilfert2021 G
Source Variant Information

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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 notesView
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