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Results for "WDPCP"

Variant Events: 52

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
WDPCP     1-0261-004chr2:
63643632-63643632
GGCTGGAintronicDe novo--Yuen2017 G
WDPCP     1-0215-006chr2:
63495658-63495658
AGintronicDe novo--Trost2022 G
Yuen2017 G
WDPCP     SMHC02028s000chr2:
63664626-63664626
GAexonicDe novostopgainNM_001042692
NM_015910
c.C85T
c.C562T
p.Q29X
p.Q188X
23.7-Yuan2023 E
WDPCP     4-0073-003chr2:
63352614-63352615
GATTintronicDe novo--Trost2022 G
WDPCP     7-0441-003chr2:
63357081-63357081
AGintronicDe novo--Trost2022 G
WDPCP     2-0162-003chr2:
63459406-63459406
CGintronicDe novo--Trost2022 G
WDPCP     1-1223-003chr2:
63465698-63465698
CTintronicDe novo--Trost2022 G
WDPCP     MSSNG00098-004chr2:
63421075-63421079
GATTTGintronicDe novo--Trost2022 G
WDPCP     488-04-101682chr2:
63815388-63815388
GAexonicDe novosynonymous SNVNM_015910c.C18Tp.C6C--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
WDPCP     2-0244-003chr2:
63449114-63449126
TTGGATCCTTTCCAintronicDe novo--Trost2022 G
WDPCP     MSSNG00202-003chr2:
63396204-63396204
CTintronicDe novo--Trost2022 G
WDPCP     1-0885-003chr2:
63643632-63643632
GGCTGGAintronicDe novo--Yuen2017 G
WDPCP     7-0130-003chr2:
63718319-63718319
TCintronicDe novo--Trost2022 G
Yuen2017 G
WDPCP     7-0095-003chr2:
63416635-63416636
CTAGATTAintronicDe novo--Trost2022 G
WDPCP     7-0232-004chr2:
63365114-63365115
TGCAintronicDe novo--Trost2022 G
WDPCP     3-0044-000chr2:
63372208-63372208
CTintronicDe novo--Trost2022 G
WDPCP     7-0017-003Achr2:
63518447-63518447
CTintronicDe novo--Trost2022 G
WDPCP     AU3506303chr2:
63459454-63459454
CTintronicDe novo--Trost2022 G
Yuen2017 G
WDPCP     2-1313-003Achr2:
63544002-63544002
AGintronicDe novo--Trost2022 G
WDPCP     2-1546-003chr2:
63487432-63487432
CTintronicDe novo--Trost2022 G
WDPCP     1-1186-003chr2:
63501474-63501474
AGintronicDe novo--Trost2022 G
WDPCP     2-0103-003chr2:
63486367-63486379
CCTCCAAACATAATintronicDe novo--Trost2022 G
WDPCP     2-1292-003chr2:
63636879-63636879
GAintronicDe novo--Trost2022 G
Yuen2017 G
WDPCP     1-1186-003chr2:
63487294-63487294
CGintronicDe novo--Trost2022 G
WDPCP     MT_161.3chr2:
63483130-63483130
TCintronicDe novo--Trost2022 G
WDPCP     AU3951301chr2:
63651728-63651728
ATintronicDe novo--Trost2022 G
Yuen2017 G
WDPCP     2-0103-004chr2:
63486367-63486379
CCTCCAAACATAATintronicDe novo--Trost2022 G
WDPCP     1-0139-003chr2:
63793751-63793751
TCintronicDe novo--Yuen2017 G
WDPCP     MSSNG00421-006chr2:
63672250-63672250
AGintronicDe novo--Trost2022 G
WDPCP     MSSNG00250-003chr2:
63698574-63698574
AGintronicDe novo--Trost2022 G
WDPCP     4-0014-003chr2:
63578368-63578368
CTintronicDe novo--Trost2022 G
WDPCP     MSSNG00061-003chr2:
63595535-63595535
AGintronicDe novo--Trost2022 G
WDPCP     MSSNG00256-005chr2:
63559316-63559316
TCintronicDe novo--Trost2022 G
WDPCP     12175.p1chr2:
63779262-63779262
CTintronicDe novo--Turner2016 G
WDPCP     SP0115699chr2:
63540403-63540403
CGexonicDe novononsynonymous SNVNM_001042692
NM_015910
c.G1315C
c.G1792C
p.G439R
p.G598R
22.3-Fu2022 E
Trost2022 G
Zhou2022 GE
WDPCP     7-0288-004chr2:
63572275-63572275
CTintronicDe novo--Trost2022 G
WDPCP     1-0599-005chr2:
63549569-63549570
TGCAintronicDe novo--Trost2022 G
WDPCP     MSSNG00422-003chr2:
63556467-63556467
GAintronicDe novo--Trost2022 G
WDPCP     1-0138-003chr2:
63779216-63779221
ACACTTGCGCCCGGCCintronicDe novo--Trost2022 G
WDPCP     5-5111-003chr2:
63797067-63797067
TCintronicDe novo--Trost2022 G
WDPCP     MSSNG00218-003chr2:
63736624-63736624
GAintronicDe novo--Trost2022 G
WDPCP     7-0298-003chr2:
63764721-63764721
CAintronicDe novo--Trost2022 G
WDPCP     7-0233-004chr2:
63708528-63708528
TTCATCAintronicDe novo--Trost2022 G
WDPCP     1-0651-003chr2:
63355580-63355580
TGintronicDe novo--Trost2022 G
Yuen2017 G
WDPCP     7-0017-003Achr2:
63718471-63718471
AGintronicDe novo--Trost2022 G
WDPCP     AU4152303chr2:
63730857-63730857
CTintronicDe novo--Trost2022 G
Yuen2017 G
WDPCP     AU4152303chr2:
63754254-63754254
CTintronicDe novo--Trost2022 G
Yuen2017 G
WDPCP     13636.p1chr2:
63540407-63540407
GTexonicMosaicnonsynonymous SNVNM_001042692
NM_015910
c.C1311A
c.C1788A
p.D437E
p.D596E
17.628.467E-6Dou2017 E
WDPCP     1-0412-003chr2:
63402179-63402179
TGintronicDe novo--Trost2022 G
Yuen2017 G
WDPCP     5-0140-003chr2:
63468741-63468741
TCintronicDe novo--Trost2022 G
Yuen2017 G
WDPCP     2-1313-003chr2:
63544002-63544002
AGintronicDe novo--Yuen2017 G
WDPCP     2-1442-003chr2:
63633705-63633705
CTintronicDe novo--Trost2022 G
Yuen2016 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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