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Results for "SCAPER"

Variant Events: 67

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
SCAPER     1-0201-005chr15:
77038298-77038298
GCintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     AU3847302chr15:
76641556-76641556
ATintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     AU3777302chr15:
76765072-76765072
TCintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     SP0100849chr15:
77087637-77087637
CTexonicDe novosynonymous SNVNM_020843c.G756Ap.K252K--Fu2022 E
Trost2022 G
Zhou2022 GE
SCAPER     7-0354-005chr15:
76711351-76711351
CTintronicDe novo--Trost2022 G
SCAPER     SP0104165chr15:
77057945-77057945
CAexonicDe novononsynonymous SNVNM_020843
NM_001145923
c.G1454T
c.G716T
p.G485V
p.G239V
22.6-Fu2022 E
Trost2022 G
Zhou2022 GE
SCAPER     5-0066-003chr15:
76713085-76713085
AATintronicDe novo--Trost2022 G
SCAPER     2-1787-003chr15:
76686468-76686468
CGintronicDe novo--Trost2022 G
SCAPER     3-0713-000chr15:
76710850-76710850
GCintronicDe novo--Trost2022 G
SCAPER     5-0065-003chr15:
76802803-76802805
CATCintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     AU4056302chr15:
76658252-76658252
CTintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     AU4235303chr15:
76783117-76783117
TAintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     SP0099157chr15:
76668570-76668570
CTexonicDe novononsynonymous SNVNM_020843
NM_001145923
c.G3788A
c.G3050A
p.C1263Y
p.C1017Y
18.94-Fu2022 E
Trost2022 G
Zhou2022 GE
SCAPER     SP0044424chr15:
76763605-76763605
AGexonicDe novononsynonymous SNVNM_020843
NM_001145923
c.T3026C
c.T2288C
p.L1009P
p.L763P
23.3-Fu2022 E
Trost2022 G
Zhou2022 GE
SCAPER     1-0567-004chr15:
76723511-76723512
TATintronicDe novo--Yuen2017 G
SCAPER     7-0235-003chr15:
76811795-76811795
TCintronicDe novo--Trost2022 G
SCAPER     1-1084-003chr15:
76813452-76813452
ATintronicDe novo--Trost2022 G
SCAPER     MSSNG00415-003chr15:
76776985-76776985
CTintronicDe novo--Trost2022 G
SCAPER     PN400517chr15:
76995252-76995252
TAexonicUnknownnonsynonymous SNVNM_020843
NM_001145923
c.A2339T
c.A1601T
p.D780V
p.D534V
26.7-Leblond2019 E
SCAPER     MSSNG00337-003chr15:
76793578-76793578
TCintronicDe novo--Trost2022 G
SCAPER     AU4069302chr15:
77157280-77157280
AGintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     5-5127-003chr15:
76765578-76765578
CTintronicDe novo--Trost2022 G
SCAPER     1-0383-003chr15:
76768763-76768778
TTTTCTTTCTTTCTTTTTTTCTTTCTTTintronicDe novo--Yuen2017 G
SCAPER     2-1548-003chr15:
76774134-76774134
GTintronicDe novo--Trost2022 G
SCAPER     1-0695-004chr15:
76732367-76732367
AAATTintronicDe novo--Trost2022 G
SCAPER     2-1460-003chr15:
76759566-76759566
GAintronicDe novo--Trost2022 G
SCAPER     5-5146-005chr15:
76997411-76997411
CTintronicDe novo--Trost2022 G
SCAPER     MSSNG00095-003chr15:
77007932-77007932
CGintronicDe novo--Trost2022 G
SCAPER     REACH000258chr15:
76929158-76929158
GAintronicDe novo--Trost2022 G
SCAPER     AU2194301chr15:
76992354-76992354
CTintronicDe novo--Trost2022 G
SCAPER     MSSNG00088-003chr15:
76826362-76826364
AATAintronicDe novo--Trost2022 G
SCAPER     REACH000292chr15:
76913192-76913192
CTintronicDe novo--Trost2022 G
SCAPER     1-0133-003chr15:
76819203-76819203
TAintronicDe novo--Trost2022 G
SCAPER     2-0238-003chr15:
76649006-76649006
GCintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     PN400114chr15:
76995252-76995252
TAexonicUnknownnonsynonymous SNVNM_020843
NM_001145923
c.A2339T
c.A1601T
p.D780V
p.D534V
26.7-Leblond2019 E
SCAPER     MSSNG00029-004chr15:
76819730-76819730
AGintronicDe novo--Trost2022 G
SCAPER     MSSNG00420-003chr15:
77039379-77039379
TGintronicDe novo--Trost2022 G
SCAPER     REACH000249chr15:
77059722-77059722
TCintronicDe novo--Trost2022 G
SCAPER     1-0153-004chr15:
77117097-77117097
ACintronicDe novo--Yuen2017 G
SCAPER     7-0320-003chr15:
77034373-77034373
ACintronicDe novo--Trost2022 G
SCAPER     AU3997301chr15:
77165256-77165256
GCintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     2-1294-003chr15:
77037847-77037847
CTintronicDe novo--Trost2022 G
SCAPER     MT_14.3chr15:
77018038-77018038
TCintronicDe novo--Trost2022 G
SCAPER     SP0175133chr15:
77025680-77025680
GAexonicDe novononsynonymous SNVNM_020843
NM_001145923
c.C1912T
c.C1174T
p.R638C
p.R392C
20.91.752E-5Trost2022 G
SCAPER     MSSNG00060-003chr15:
77013627-77013627
ATintronicDe novo--Trost2022 G
SCAPER     MSSNG00060-003chr15:
77013635-77013635
TGintronicDe novo--Trost2022 G
SCAPER     4-0062-003chr15:
77139554-77139554
GAintronicDe novo--Trost2022 G
SCAPER     A22chr15:
77027637-77027637
CGintronicDe novo--Wu2018 G
SCAPER     4-0062-003chr15:
77139562-77139562
GAintronicDe novo--Trost2022 G
SCAPER     1-0153-004Achr15:
77117097-77117097
ACintronicDe novo--Trost2022 G
SCAPER     2-1425-004chr15:
76933426-76933426
TTAintronicDe novo--Yuen2017 G
SCAPER     MT_166.3chr15:
77124065-77124065
TCintronicDe novo--Trost2022 G
SCAPER     3-0833-000chr15:
77062697-77062697
TAintronicDe novo--Trost2022 G
SCAPER     MSSNG00041-004chr15:
77067014-77067014
GAintronicDe novo--Trost2022 G
SCAPER     1-0511-003chr15:
77004938-77004938
AGintronicDe novo--Yuen2017 G
SCAPER     2-1117-003chr15:
76657573-76657573
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SCAPER     JASD_Fam0043chr15:
76726486-76726486
TCexonicDe novononsynonymous SNVNM_020843
NM_001145923
c.A3244G
c.A2506G
p.T1082A
p.T836A
13.81-Takata2018 E
SCAPER     1-0522-003chr15:
76840010-76840010
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
SCAPER     2-1146-003chr15:
76950794-76950794
GAintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     AU4186302chr15:
76929051-76929051
TGintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     1-0215-006chr15:
77200095-77200095
ACintergenicDe novo--Yuen2017 G
SCAPER     AU2140306chr15:
77017266-77017266
GAintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     AU3866301chr15:
76666461-76666461
TCintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     2-1239-003chr15:
76899700-76899700
GTintronicDe novo--Yuen2017 G
SCAPER     1-0563-003chr15:
76664132-76664132
GAintronicDe novo--Trost2022 G
Yuen2017 G
SCAPER     5-0004-003chr15:
77092485-77092485
TTTACintronicDe novo--Yuen2017 G
SCAPER     AU4463303chr15:
76762873-76762873
CTintronicDe novo--Trost2022 G
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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