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Results for "GPC6"

Variant Events: 48

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
GPC6     3-0209-000chr13:
94603006-94603006
AGintronicDe novo--Yuen2017 G
GPC6     1-0150-004chr13:
93997155-93997155
CGintronicDe novo--Yuen2017 G
GPC6     1-0486-003chr13:
94964483-94964483
TCintronicDe novo--Yuen2017 G
GPC6     1-0292-005chr13:
94918511-94918511
CTintronicDe novo--Yuen2017 G
GPC6     AU3052301chr13:
94847867-94847867
CTintronicDe novo--Yuen2017 G
GPC6     1-0551-003chr13:
94134624-94134624
GAintronicDe novo--Yuen2017 G
GPC6     AU4013301chr13:
94056963-94056963
CTintronicDe novo--Yuen2017 G
GPC6     2-1391-003chr13:
94363892-94363892
CTintronicDe novo--Yuen2017 G
GPC6     2-0198-005chr13:
94848380-94848380
CTintronicDe novo--Yuen2017 G
GPC6     AU4250301chr13:
94731964-94731964
CTintronicDe novo--Yuen2017 G
GPC6     A17chr13:
94126298-94126298
GAintronicDe novo--Wu2018 G
GPC6     1-0150-003chr13:
93997155-93997155
CGintronicDe novo--Yuen2017 G
GPC6     2-1223-003chr13:
94010408-94010408
CAintronicDe novo--Yuen2017 G
GPC6     AU3849302chr13:
94606134-94606134
CTintronicDe novo--Yuen2017 G
GPC6     12011.p1chr13:
95044719-95044719
GTintronicDe novo--Turner2016 G
GPC6     1-0568-003chr13:
94804536-94804536
AGintronicDe novo--Yuen2017 G
GPC6     2-1486-003chr13:
94595729-94595729
AGintronicDe novo--Yuen2016 G
Yuen2017 G
GPC6     AU4013302chr13:
94319508-94319508
GAintronicDe novo--Yuen2017 G
GPC6     7-0008-003chr13:
94684432-94684432
GAintronicDe novo--Yuen2017 G
GPC6     AU2863302chr13:
94628240-94628240
AGintronicDe novo--Yuen2017 G
GPC6     A27chr13:
94458272-94458272
GCintronicDe novo--Wu2018 G
GPC6     AU1795302chr13:
94595281-94595281
CTintronicDe novo--Yuen2017 G
GPC6     A27chr13:
94456325-94456325
TAintronicDe novo--Wu2018 G
GPC6     1-0289-003chr13:
94666507-94666507
TCintronicDe novo--Yuen2017 G
GPC6     1-0683-004chr13:
94442128-94442128
TCintronicDe novo--Yuen2017 G
GPC6     2-0198-004chr13:
94848380-94848380
CTintronicDe novo--Yuen2017 G
GPC6     2-0238-003chr13:
94772600-94772600
CAintronicDe novo--Yuen2017 G
GPC6     1-0520-003chr13:
94248767-94248767
CTintronicDe novo--Yuen2016 G
GPC6     AU2035302chr13:
94040461-94040461
AGintronicDe novo--Yuen2017 G
GPC6     AU4093301chr13:
94164164-94164164
TCintronicDe novo--Yuen2017 G
GPC6     1-0171-005chr13:
94995093-94995093
TCintronicDe novo--Yuen2017 G
GPC6     2-1383-003chr13:
94310966-94310966
AGintronicDe novo--Yuen2017 G
GPC6     AU3912303chr13:
94932762-94932762
GAintronicDe novo--Yuen2017 G
GPC6     1-0627-003chr13:
93970069-93970069
TAintronicDe novo--Yuen2017 G
GPC6     2-0109-003chr13:
94041920-94041920
GAintronicDe novo--Yuen2017 G
GPC6     AU0638302chr13:
94872315-94872315
TCintronicDe novo--Yuen2017 G
GPC6     2-1342-003chr13:
94223399-94223399
ACintronicDe novo--Yuen2016 G
Yuen2017 G
GPC6     2-1322-004chr13:
94566039-94566039
GAintronicDe novo--Yuen2017 G
GPC6     2-1644-004chr13:
94291655-94291655
CAintronicDe novo--Yuen2017 G
GPC6     AU056804chr13:
94548893-94548893
TCintronicDe novo--Yuen2017 G
GPC6     AU2035301chr13:
94040461-94040461
AGintronicDe novo--Yuen2017 G
GPC6     2-1244-003chr13:
94351590-94351590
GAintronicDe novo--Yuen2016 G
Yuen2017 G
GPC6     5-0015-004chr13:
94309993-94309997
TAAACTintronicDe novo--Yuen2017 G
GPC6     AU4029301chr13:
93950893-93950893
GAintronicDe novo--Yuen2017 G
GPC6     3-0307-000chr13:
94640336-94640336
CTintronicDe novo--Yuen2017 G
GPC6     AU3905302chr13:
94403345-94403345
GAintronicDe novo--Yuen2017 G
GPC6     AU4029301chr13:
94424379-94424379
ATintronicDe novo--Yuen2017 G
GPC6     AU4215302chr13:
94350970-94350977
TACTCACTTACTintronicDe 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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