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Results for "HDGFL1"

Variant Events: 90

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
HDGFL1     1-0412-003chr6:
23225926-23225926
GTintergenicDe novo--Yuen2017 G
HDGFL1     2-0102-004chr6:
23474604-23474604
GAintergenicDe novo--Yuen2017 G
HDGFL1     2-1398-004chr6:
23777677-23777677
TTAintergenicDe novo--Yuen2017 G
HDGFL1     1-0464-003chr6:
23855784-23855784
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     2-0033-003chr6:
23185756-23185756
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     2-1277-003chr6:
23007725-23007725
AGintergenicDe novo--Yuen2017 G
HDGFL1     1-0300-004chr6:
23616684-23616684
ACintergenicDe novo--Yuen2017 G
HDGFL1     7-0151-003chr6:
23966316-23966316
TCintergenicDe novo--Yuen2017 G
HDGFL1     2-1213-003chr6:
23167000-23167000
ATintergenicDe novo--Yuen2017 G
HDGFL1     2-1526-003chr6:
24010475-24010475
AGintergenicDe novo--Yuen2017 G
HDGFL1     1-0435-003chr6:
23870231-23870231
GAintergenicDe novo--Yuen2017 G
HDGFL1     2-1360-003chr6:
23844695-23844695
CTintergenicDe novo--Yuen2017 G
HDGFL1     1-0206-003chr6:
23394340-23394340
GGGAAintergenicDe novo--Yuen2017 G
HDGFL1     AU2248302chr6:
23159302-23159302
CTintergenicDe novo--Yuen2017 G
HDGFL1     1-0052-004chr6:
23111889-23111889
AGintergenicDe novo--Yuen2017 G
HDGFL1     1-0627-007chr6:
23448388-23448388
AGintergenicDe novo--Yuen2017 G
HDGFL1     1-0336-004chr6:
24097760-24097760
GAintergenicDe novo--Yuen2017 G
HDGFL1     AU1521301chr6:
23623545-23623555
GAGAGAGGAAGGAGintergenicDe novo--Yuen2017 G
HDGFL1     1-0150-004chr6:
23225926-23225926
GTintergenicDe novo--Yuen2017 G
HDGFL1     AU4239301chr6:
22951449-22951449
TCintergenicDe novo--Yuen2017 G
HDGFL1     A14chr6:
23525404-23525404
AGintergenicDe novo--Wu2018 G
HDGFL1     2-1322-004chr6:
23939801-23939801
GAintergenicDe novo--Yuen2017 G
HDGFL1     1-0289-004chr6:
24056841-24056841
GGGGAintergenicDe novo--Yuen2017 G
HDGFL1     2-1322-004chr6:
23322284-23322284
CTintergenicDe novo--Yuen2017 G
HDGFL1     AU011021chr6:
22588463-22588463
TGintergenicDe novo--Yuen2017 G
HDGFL1     AU066403chr6:
23814454-23814454
TCintergenicDe novo--Yuen2017 G
HDGFL1     1-0495-003chr6:
23541556-23541556
ATintergenicDe novo--Yuen2017 G
HDGFL1     2-1160-003chr6:
22835216-22835216
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     2-1308-003chr6:
22992228-22992228
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     2-1371-003chr6:
23783204-23783204
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     1-0995-003chr6:
22704996-22705001
ACCCCCACCCCintergenicDe novo--Yuen2017 G
HDGFL1     1-0745-003chr6:
23374412-23374412
CTintergenicDe novo--Yuen2017 G
HDGFL1     2-1189-003chr6:
23031457-23031457
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     2-1366-003chr6:
23514761-23514761
GTintergenicDe novo--Yuen2017 G
HDGFL1     2-0127-004chr6:
23024797-23024797
GTintergenicDe novo--Yuen2017 G
HDGFL1     1-0402-003chr6:
23872348-23872352
GACACGintergenicDe novo--Yuen2017 G
HDGFL1     1-0004-003chr6:
23936462-23936468
TGGAACATintergenicDe novo--Yuen2017 G
HDGFL1     2-1736-003chr6:
23583279-23583279
CTintergenicDe novo--Yuen2017 G
HDGFL1     2-1300-003chr6:
23973439-23973439
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     AU066206chr6:
24104297-24104297
GCintergenicDe novo--Yuen2017 G
HDGFL1     1-0862-003chr6:
23623873-23623873
CGintergenicDe novo--Yuen2017 G
HDGFL1     1-0558-003chr6:
22624102-22624102
AGintergenicDe novo--Yuen2017 G
HDGFL1     AU4122301chr6:
23199669-23199669
AGintergenicDe novo--Yuen2017 G
HDGFL1     1-0372-003chr6:
23346630-23346630
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     2-1355-003chr6:
23435375-23435376
ATAintergenicDe novo--Yuen2017 G
HDGFL1     1-0570-003chr6:
23218406-23218406
GAintergenicDe novo--Yuen2017 G
HDGFL1     AU3712301chr6:
23101759-23101759
TCintergenicDe novo--Yuen2017 G
HDGFL1     AU4372309chr6:
23399986-23399993
TATATGCATAintergenicDe novo--Yuen2017 G
HDGFL1     AU1725306chr6:
23122571-23122571
GCintergenicDe novo--Yuen2017 G
HDGFL1     AU3900302chr6:
23782457-23782457
AGintergenicDe novo--Yuen2017 G
HDGFL1     AU4032306chr6:
23114000-23114000
GCintergenicDe novo--Yuen2017 G
HDGFL1     2-1254-003chr6:
23079514-23079514
TCintergenicDe novo--Yuen2016 G
HDGFL1     AU3586303chr6:
22741879-22741879
GTintergenicDe novo--Yuen2017 G
HDGFL1     7-0130-003chr6:
23357997-23357997
GAintergenicDe novo--Yuen2017 G
HDGFL1     AU2951302chr6:
22958797-22958797
TCintergenicDe novo--Yuen2017 G
HDGFL1     AU2951303chr6:
22958797-22958797
TCintergenicDe novo--Yuen2017 G
HDGFL1     1-0201-005chr6:
23384495-23384495
AATAATintergenicDe novo--Yuen2017 G
HDGFL1     1-0201-005chr6:
22847813-22847827
AAAATAGGGGGACAGAintergenicDe novo--Yuen2017 G
HDGFL1     2-1605-004chr6:
23693976-23693976
GAintergenicDe novo--Yuen2017 G
HDGFL1     1-0232-004chr6:
23318120-23318120
AGintergenicDe novo--Yuen2017 G
HDGFL1     2-0126-004chr6:
23352969-23352969
GAintergenicDe novo--Yuen2017 G
HDGFL1     AU2109301chr6:
22919850-22919850
CGintergenicDe novo--Yuen2017 G
HDGFL1     AU3888302chr6:
23856247-23856247
GAintergenicDe novo--Yuen2017 G
HDGFL1     5-0018-003chr6:
23394340-23394340
GGGAAintergenicDe novo--Yuen2017 G
HDGFL1     AU4343302chr6:
24008087-24008087
GAintergenicDe novo--Yuen2017 G
HDGFL1     1-0303-003chr6:
22757627-22757627
AGintergenicDe novo--Yuen2017 G
HDGFL1     1-0553-003chr6:
22730503-22730503
GAintergenicDe novo--Yuen2017 G
HDGFL1     1-0107-003chr6:
23013973-23013973
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     2-1350-003chr6:
22592791-22592793
CTTCintergenicDe novo--Yuen2017 G
HDGFL1     3-0431-000chr6:
23623919-23623919
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     2-0296-004chr6:
23448148-23448148
AGintergenicDe novo--Yuen2017 G
HDGFL1     2-1085-003chr6:
23828898-23828898
CTintergenicDe novo--Yuen2017 G
HDGFL1     AU031404 Complex Event; expand row to view variants  De novo--Yuen2017 G
Yuen2017 G
HDGFL1     AU4056301chr6:
23382066-23382066
GAintergenicDe novo--Yuen2017 G
HDGFL1     AU3721302chr6:
23417963-23417963
GCintergenicDe novo--Yuen2017 G
HDGFL1     1-0772-003chr6:
23003279-23003286
TAATAAATTAATintergenicDe novo--Yuen2017 G
HDGFL1     2-1350-003chr6:
22613469-22613469
GCintergenicDe novo--Yuen2017 G
HDGFL1     AU2793302chr6:
23201374-23201374
ATintergenicDe novo--Yuen2017 G
HDGFL1     2-1195-003chr6:
24066595-24066595
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     1-0330-004chr6:
24068676-24068676
TCintergenicDe novo--Yuen2017 G
HDGFL1     2-1411-003chr6:
23077495-23077495
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     2-1508-003chr6:
23435890-23435890
CTintergenicDe novo--Yuen2017 G
HDGFL1     7-0080-003chr6:
23498363-23498363
TAintergenicDe novo--Yuen2017 G
HDGFL1     2-1153-003chr6:
23268111-23268111
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     1-0007-003chr6:
22890809-22890809
CTintergenicDe novo--Yuen2017 G
HDGFL1     1-0184-003chr6:
23210358-23210359
AGAintergenicDe novo--Yuen2017 G
HDGFL1     1-0402-004chr6:
23872348-23872352
GACACGintergenicDe novo--Yuen2017 G
HDGFL1     2-1346-003chr6:
23068561-23068561
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
HDGFL1     AU3764302chr6:
23684238-23684238
TCintergenicDe novo--Yuen2017 G
HDGFL1     AU4347301chr6:
23847756-23847756
AGintergenicDe 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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