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Results for "QKI"

Variant Events: 72

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
QKI     1-0144-005chr6:
163869027-163869028
ATAintronicDe novo--Yuen2017 G
QKI     1-0906-003chr6:
164728109-164728109
GAintergenicDe novo--Yuen2017 G
QKI     1-0169-004chr6:
164347821-164347821
GTintergenicDe novo--Yuen2017 G
QKI     AU2075302chr6:
165055711-165055711
TCintergenicDe novo--Yuen2017 G
QKI     AU1860301chr6:
164069379-164069379
CTintergenicDe novo--Yuen2017 G
QKI     1-0925-003chr6:
164006969-164006969
TCintergenicDe novo--Yuen2017 G
QKI     AU3915301chr6:
164871237-164871237
TCintergenicDe novo--Yuen2017 G
QKI     13542.p1chr6:
164073404-164073404
CGintergenicDe novo--Werling2018 G
QKI     A16chr6:
164334166-164334166
GAintergenicDe novo--Wu2018 G
QKI     2-0102-004chr6:
164055163-164055163
GAintergenicDe novo--Yuen2017 G
QKI     1-0300-004chr6:
164566154-164566154
CTintergenicDe novo--Yuen2017 G
QKI     AU047904chr6:
164436119-164436119
CTintergenicDe novo--Yuen2017 G
QKI     1-0139-005chr6:
164163476-164163476
GAintergenicDe novo--Yuen2017 G
QKI     3-0458-000chr6:
164840103-164840103
CAintergenicDe novo--Yuen2016 G
QKI     2-1297-003chr6:
164332597-164332597
CTintergenicDe novo--Yuen2017 G
QKI     1-0052-004chr6:
164791458-164791458
TCintergenicDe novo--Yuen2017 G
QKI     AU3634301chr6:
163871350-163871350
ACintronicDe novo--Yuen2017 G
QKI     2-1180-003chr6:
164096496-164096496
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
QKI     AU4027306chr6:
165133723-165133732
GAAACAAACAGAAACAintergenicDe novo--Yuen2017 G
QKI     2-0098-003chr6:
164779690-164779690
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
QKI     1-0352-005chr6:
164302490-164302490
ACintergenicDe novo--Yuen2017 G
QKI     2-1442-003chr6:
164149919-164149919
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
QKI     A14chr6:
164109879-164109879
CGintergenicDe novo--Wu2018 G
QKI     2-1437-003chr6:
164977819-164977819
CTintergenicDe novo--Yuen2017 G
QKI     2-1425-004chr6:
165109650-165109650
GCintergenicDe novo--Yuen2017 G
QKI     7-0078-003chr6:
165188692-165188692
TCintergenicDe novo--Yuen2017 G
QKI     AU1542303chr6:
163963320-163963320
AGintronicDe novo--Yuen2017 G
QKI     5-0030-003chr6:
164372850-164372850
GGGTintergenicDe novo--Yuen2017 G
QKI     3-0458-000Achr6:
164840103-164840103
CAintergenicDe novo--Yuen2017 G
QKI     2-1594-003chr6:
163848722-163848722
CTintronicDe novo--Yuen2017 G
QKI     13393.p1chr6:
165039164-165039164
TCintergenicDe novo--Turner2016 G
QKI     13539.p1chr6:
164874881-164874881
CTintergenicDe novo--Turner2016 G
QKI     2-1581-003chr6:
164797311-164797311
GCintergenicDe novo--Yuen2017 G
QKI     AU3052301chr6:
164504706-164504706
GAintergenicDe novo--Yuen2017 G
QKI     AU3903302chr6:
164754361-164754361
TCintergenicDe novo--Yuen2017 G
QKI     2-0713-003chr6:
164131591-164131591
AGintergenicDe novo--Yuen2017 G
QKI     1-0408-003chr6:
164591465-164591465
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
QKI     AU4013301chr6:
164100654-164100654
CTintergenicDe novo--Yuen2017 G
QKI     1-0257-003chr6:
164367595-164367595
AGintergenicDe novo--Yuen2017 G
QKI     2-1475-003chr6:
164289106-164289106
GAintergenicDe novo--Yuen2017 G
QKI     1-0636-003chr6:
164231388-164231388
TAintergenicDe novo--Yuen2017 G
QKI     1-0261-003chr6:
164520452-164520453
TATintergenicDe novo--Yuen2017 G
QKI     AU045512chr6:
164480990-164480995
TGGGGGTGGGGintergenicDe novo--Yuen2017 G
QKI     2-1689-003chr6:
164205850-164205858
TAAAGAAAGTAAAGintergenicDe novo--Yuen2017 G
QKI     A20chr6:
164771368-164771368
TCintergenicDe novo--Wu2018 G
QKI     2-1644-004chr6:
164926979-164926979
ACintergenicDe novo--Yuen2017 G
QKI     AU3786301chr6:
164387995-164387995
CTintergenicDe novo--Yuen2017 G
QKI     AU4426303chr6:
164864706-164864706
AGintergenicDe novo--Yuen2017 G
QKI     AU1725306chr6:
165079167-165079167
TGintergenicDe novo--Yuen2017 G
QKI     1-0701-003chr6:
164065883-164065883
CTintergenicDe novo--Yuen2017 G
QKI     AU3807302chr6:
164441100-164441100
CTintergenicDe novo--Yuen2017 G
QKI     A8chr6:
164977929-164977929
GTintergenicDe novo--Wu2018 G
QKI     5-0129-003chr6:
164372509-164372509
GCintergenicDe novo--Yuen2017 G
QKI     1-0209-003chr6:
164448378-164448378
GAintergenicDe novo--Yuen2017 G
QKI     2-1210-003chr6:
165006189-165006189
TGintergenicDe novo--Yuen2017 G
QKI     1-0699-003chr6:
165144483-165144483
TCintergenicDe novo--Yuen2017 G
QKI     AU039304chr6:
164582988-164582988
CTintergenicDe novo--Yuen2017 G
QKI     2-1169-004chr6:
164161767-164161767
GAintergenicDe novo--Yuen2017 G
QKI     AU011604chr6:
164056199-164056199
GTintergenicDe novo--Yuen2017 G
QKI     1-0148-005chr6:
164001557-164001557
CTintergenicDe novo--Yuen2017 G
QKI     2-0135-004chr6:
164555070-164555070
CTintergenicDe novo--Yuen2017 G
QKI     5-0137-003chr6:
164552225-164552225
GCintergenicDe novo--Yuen2017 G
QKI     1-0120-003chr6:
164114279-164114279
AGintergenicDe novo--Yuen2017 G
QKI     1-0352-003chr6:
164302490-164302490
ACintergenicDe novo--Yuen2016 G
QKI     2-1605-003chr6:
164789085-164789085
ATintergenicDe novo--Yuen2017 G
QKI     AU3175303chr6:
164490705-164490705
ATintergenicDe novo--Yuen2017 G
QKI     3-0458-000Bchr6:
164840103-164840103
CAintergenicDe novo--Yuen2017 G
QKI     AU1988302chr6:
165037645-165037645
TGintergenicDe novo--Yuen2017 G
QKI     2-0305-003chr6:
165035225-165035225
TGintergenicDe novo--Yuen2017 G
QKI     2-1526-004chr6:
164592954-164592954
TGintergenicDe novo--Yuen2017 G
QKI     AU3725302chr6:
164695153-164695153
TCintergenicDe novo--Yuen2017 G
QKI     AU4211304chr6:
164023394-164023394
CTintergenicDe 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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