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Results for "TTC28"

Variant Events: 43

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
TTC28     1-0466-003chr22:
28563015-28563015
GCintronicDe novo--Yuen2017 G
TTC28     1-0541-003chr22:
28905148-28905148
TCintronicDe novo--Yuen2017 G
TTC28     AU3891302chr22:
28983570-28983570
GAintronicDe novo--Yuen2017 G
TTC28     11872.p1chr22:
28501597-28501597
GTexonicDe novosynonymous SNVNM_001145418c.C2977Ap.R993R--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
TTC28     1-0547-003chr22:
28887714-28887714
GTintronicDe novo--Yuen2017 G
TTC28     2-1297-003chr22:
28889310-28889310
TCintronicDe novo--Yuen2017 G
TTC28     AU3903301chr22:
28912858-28912858
GCintronicDe novo--Yuen2017 G
TTC28     AU4376301chr22:
28887323-28887323
GTintronicDe novo--Yuen2017 G
TTC28     2-1406-003chr22:
29020932-29020932
TAintronicDe novo--Yuen2016 G
Yuen2017 G
TTC28     1-0380-003chr22:
28554275-28554275
ACintronicDe novo--Yuen2017 G
TTC28     1-0756-005chr22:
28464662-28464662
TCintronicDe novo--Yuen2017 G
TTC28     1-0990-003chr22:
28813006-28813006
CTintronicDe novo--Yuen2017 G
TTC28     5-0103-003chr22:
28484430-28484430
AGintronicDe novo--Yuen2017 G
TTC28     1-0025-006chr22:
28991986-28991986
GAintronicDe novo--Yuen2017 G
TTC28     2-0002-005chr22:
28795746-28795746
CTintronicDe novo--Yuen2017 G
TTC28     1-0554-003chr22:
28987349-28987349
TCintronicDe novo--Yuen2017 G
TTC28     AU2381302chr22:
28926143-28926143
AGintronicDe novo--Yuen2017 G
TTC28     1-0627-005chr22:
28476286-28476286
CTintronicDe novo--Yuen2017 G
TTC28     PN400487chr22:
28389379-28389379
CTexonicUnknownnonsynonymous SNVNM_001145418c.G5372Ap.R1791Q37.00.0034Leblond2019 E
TTC28     1-0303-003chr22:
29068225-29068225
CAintronicDe novo--Yuen2017 G
TTC28     2-0289-003chr22:
28923857-28923857
GCintronicDe novo--Yuen2017 G
TTC28     AU2023302chr22:
28639572-28639572
GAintronicDe novo--Yuen2017 G
TTC28     AU3801301chr22:
28652902-28652902
CAintronicDe novo--Yuen2017 G
TTC28     AU4487302chr22:
28926052-28926052
CTintronicDe novo--Yuen2017 G
TTC28     1-0868-003chr22:
29041870-29041870
GAintronicDe novo--Yuen2017 G
TTC28     AU1640302chr22:
28588423-28588423
TCintronicDe novo--Yuen2017 G
TTC28     AU2787301chr22:
28737513-28737513
CAintronicDe novo--Yuen2017 G
TTC28     2-0127-004chr22:
28665856-28665858
GAAGintronicDe novo--Yuen2017 G
TTC28     2-1620-004chr22:
28405168-28405168
GGTTCCintronicDe novo--Yuen2017 G
TTC28     1-0191-003chr22:
28768669-28768669
GAintronicDe novo--Yuen2017 G
TTC28     AU3801301chr22:
28652939-28652939
ATintronicDe novo--Yuen2017 G
TTC28     1-0068-003chr22:
28996319-28996319
GAintronicDe novo--Yuen2017 G
TTC28     2-1415-004chr22:
28965961-28965961
TCintronicDe novo--Yuen2017 G
TTC28     1-0051-004chr22:
28704763-28704763
TCintronicDe novo--Yuen2017 G
TTC28     2-1526-004chr22:
28965961-28965961
TCintronicDe novo--Yuen2017 G
TTC28     1-0372-003chr22:
28625945-28625945
GTintronicDe novo--Yuen2016 G
Yuen2017 G
TTC28     Lim2017:5929chr22:
28501597-28501597
GTexonicDe novosynonymous SNVNM_001145418c.C2977Ap.R993R--Lim2017 E
TTC28     A29chr22:
28692159-28692159
TGintronicDe novo--Wu2018 G
TTC28     PN400306chr22:
28389379-28389379
CTexonicUnknownnonsynonymous SNVNM_001145418c.G5372Ap.R1791Q37.00.0034Leblond2019 E
TTC28     AU1894303chr22:
28689509-28689509
TAintronicDe novo--Yuen2017 G
TTC28     AU4372309chr22:
28485296-28485296
TCintronicDe novo--Yuen2017 G
TTC28     2-1620-003chr22:
28405168-28405168
GGTTCCintronicDe novo--Yuen2017 G
TTC28     1-0383-003chr22:
28589104-28589104
AGintronicDe novo--Yuen2017 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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