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Results for "RET"

Variant Events: 17

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
RET     2-0045-003chr10:
43606501-43606501
CGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
RET     SP0201436chr10:
43623540-43623540
TCintronicDe novo--Trost2022 G
RET     AU2863302chr10:
43614155-43614155
CTintronicDe novo--Trost2022 G
Yuen2017 G
RET     12656.p1chr10:
43617507-43617507
CTintronicDe novo--Satterstrom2020 E
RET     09C97707Achr10:
43612227-43612227
GAintronicDe novo-2.541E-5Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
RET     AU012803chr10:
43617003-43617003
GAintronicDe novo--Trost2022 G
Yuen2017 G
RET     SP0029197chr10:
43612053-43612053
CTexonicnonsynonymous SNVNM_020630
NM_020975
c.C2158T
c.C2158T
p.P720S
p.P720S
31.0-Zhou2022 GE
RET     SP0118536chr10:
43596167-43596167
CTexonicnonsynonymous SNVNM_020630
NM_020975
c.C334T
c.C334T
p.R112C
p.R112C
16.031.47E-5Zhou2022 GE
RET     006-07-107598chr10:
43608258-43608258
GAintronicDe novo-5.116E-5Satterstrom2020 E
Trost2022 G
RET     14480.p1chr10:
43598098-43598098
GTintronicDe novo--Krumm2015 E
RET     1-1025-003chr10:
43621533-43621533
GAintronicDe novo--Trost2022 G
RET     MSSNG00346-003chr10:
43622476-43622476
GAUTR3De novo--Trost2022 G
RET     SP0220058chr10:
43617472-43617473
TGTintronicDe novo--Trost2022 G
RET     SSC05666chr10:
43617507-43617507
CTintronicDe novo--Trost2022 G
RET     7-0303-003chr10:
43584449-43584449
GAintronicDe novo--Trost2022 G
RET     SP0091357chr10:
43617463-43617463
GAexonicnonsynonymous SNVNM_020630
NM_020975
c.G2800A
c.G2800A
p.V934I
p.V934I
36.0-Zhou2022 GE
RET     5-5015-003chr10:
43597089-43597089
GAintronicDe novo--Trost2022 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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