Variant Results

or

Results for "QKI"

Variant Events: 85

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

1-0144-005

chr6:
163869027-163869028

AT

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

QKI

1-0906-003

chr6:
164728109-164728109

G

A

intergenic

De novo

-

Yuen2017 G

QKI

1-0169-004

chr6:
164347821-164347821

G

T

intergenic

De novo

-

Yuen2017 G

QKI

AU2075302

chr6:
165055711-165055711

T

C

intergenic

De novo

-

Yuen2017 G

QKI

AU1860301

chr6:
164069379-164069379

C

T

intergenic

De novo

-

Yuen2017 G

QKI

1-0925-003

chr6:
164006969-164006969

T

C

intergenic

De novo

-

Yuen2017 G

QKI

AU3915301

chr6:
164871237-164871237

T

C

intergenic

De novo

-

Yuen2017 G

QKI

13542.p1

chr6:
164073404-164073404

C

G

intergenic

De novo

-

Werling2018 G

QKI

A16

chr6:
164334166-164334166

G

A

intergenic

De novo

-

Wu2018 G

QKI

2-0102-004

chr6:
164055163-164055163

G

A

intergenic

De novo

-

Yuen2017 G

QKI

1-0300-004

chr6:
164566154-164566154

C

T

intergenic

De novo

-

Yuen2017 G

QKI

AU047904

chr6:
164436119-164436119

C

T

intergenic

De novo

-

Yuen2017 G

QKI

1-0139-005

chr6:
164163476-164163476

G

A

intergenic

De novo

-

Yuen2017 G

QKI

3-0458-000

chr6:
164840103-164840103

C

A

intergenic

De novo

-

Yuen2016 G

QKI

2-1297-003

chr6:
164332597-164332597

C

T

intergenic

De novo

-

Yuen2017 G

QKI

1-0052-004

chr6:
164791458-164791458

T

C

intergenic

De novo

-

Yuen2017 G

QKI

AU3634301

chr6:
163871350-163871350

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

QKI

2-1180-003

chr6:
164096496-164096496

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

QKI

AU4027306

chr6:
165133723-165133732

GAAACAAACA

GAAACA

intergenic

De novo

-

Yuen2017 G

QKI

2-0098-003

chr6:
164779690-164779690

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

QKI

1-0352-005

chr6:
164302490-164302490

A

C

intergenic

De novo

-

Yuen2017 G

QKI

2-1442-003

chr6:
164149919-164149919

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

QKI

SP0036103

chr6:
163985123-163985123

A

C

UTR3

De novo

-

Fu2022 E

QKI

A14

chr6:
164109879-164109879

C

G

intergenic

De novo

-

Wu2018 G

QKI

2-1437-003

chr6:
164977819-164977819

C

T

intergenic

De novo

-

Yuen2017 G

QKI

SP0095648

chr6:
163991822-163991822

C

T

UTR3

De novo

-

Fu2022 E

QKI

2-1425-004

chr6:
165109650-165109650

G

C

intergenic

De novo

-

Yuen2017 G

QKI

SP0143127

chr6:
163988425-163988425

A

G

UTR3

De novo

-

Fu2022 E
Trost2022 G

QKI

7-0078-003

chr6:
165188692-165188692

T

C

intergenic

De novo

-

Yuen2017 G

QKI

AU1542303

chr6:
163963320-163963320

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

QKI

5-0030-003

chr6:
164372850-164372850

G

GGT

intergenic

De novo

-

Yuen2017 G

QKI

3-0458-000A

chr6:
164840103-164840103

C

A

intergenic

De novo

-

Yuen2017 G

QKI

2-1594-003

chr6:
163848722-163848722

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

QKI

SJD_23.3

chr6:
163897153-163897153

A

G

intronic

De novo

-

Trost2022 G

QKI

MSSNG00030-003

chr6:
163912056-163912060

CTTAG

C

intronic

De novo

-

Trost2022 G

QKI

5-5011-003

chr6:
163873005-163873005

A

G

intronic

De novo

-

Trost2022 G

QKI

REACH000073

chr6:
163874060-163874060

C

T

intronic

De novo

-

Trost2022 G

QKI

13393.p1

chr6:
165039164-165039164

T

C

intergenic

De novo

-

Turner2016 G

QKI

3-0114-000

chr6:
163848157-163848157

C

G

intronic

De novo

-

Trost2022 G

QKI

3-0174-000

chr6:
163863786-163863786

T

G

intronic

De novo

-

Trost2022 G

QKI

13539.p1

chr6:
164874881-164874881

C

T

intergenic

De novo

-

Turner2016 G

QKI

2-1581-003

chr6:
164797311-164797311

G

C

intergenic

De novo

-

Yuen2017 G

QKI

AU3052301

chr6:
164504706-164504706

G

A

intergenic

De novo

-

Yuen2017 G

QKI

AU074503

chr6:
163931547-163931547

T

C

intronic

De novo

-

Trost2022 G

QKI

3-0402-000

chr6:
163968167-163968167

T

G

intronic

De novo

-

Trost2022 G

QKI

AU3903302

chr6:
164754361-164754361

T

C

intergenic

De novo

-

Yuen2017 G

QKI

MSSNG00085-003

chr6:
163917295-163917295

G

A

intronic

De novo

-

Trost2022 G

QKI

7-0486-003

chr6:
163928497-163928497

T

C

intronic

De novo

-

Trost2022 G

QKI

2-0713-003

chr6:
164131591-164131591

A

G

intergenic

De novo

-

Yuen2017 G

QKI

1-0408-003

chr6:
164591465-164591465

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

QKI

AU4013301

chr6:
164100654-164100654

C

T

intergenic

De novo

-

Yuen2017 G

QKI

1-0257-003

chr6:
164367595-164367595

A

G

intergenic

De novo

-

Yuen2017 G

QKI

2-1475-003

chr6:
164289106-164289106

G

A

intergenic

De novo

-

Yuen2017 G

QKI

1-0636-003

chr6:
164231388-164231388

T

A

intergenic

De novo

-

Yuen2017 G

QKI

1-0261-003

chr6:
164520452-164520453

TA

T

intergenic

De novo

-

Yuen2017 G

QKI

AU045512

chr6:
164480990-164480995

TGGGGG

TGGGG

intergenic

De novo

-

Yuen2017 G

QKI

2-1689-003

chr6:
164205850-164205858

TAAAGAAAG

TAAAG

intergenic

De novo

-

Yuen2017 G

QKI

A20

chr6:
164771368-164771368

T

C

intergenic

De novo

-

Wu2018 G

QKI

2-1644-004

chr6:
164926979-164926979

A

C

intergenic

De novo

-

Yuen2017 G

QKI

AU3786301

chr6:
164387995-164387995

C

T

intergenic

De novo

-

Yuen2017 G

QKI

AU4426303

chr6:
164864706-164864706

A

G

intergenic

De novo

-

Yuen2017 G

QKI

AU1725306

chr6:
165079167-165079167

T

G

intergenic

De novo

-

Yuen2017 G

QKI

1-0701-003

chr6:
164065883-164065883

C

T

intergenic

De novo

-

Yuen2017 G

QKI

AU3807302

chr6:
164441100-164441100

C

T

intergenic

De novo

-

Yuen2017 G

QKI

A8

chr6:
164977929-164977929

G

T

intergenic

De novo

-

Wu2018 G

QKI

5-0129-003

chr6:
164372509-164372509

G

C

intergenic

De novo

-

Yuen2017 G

QKI

1-0209-003

chr6:
164448378-164448378

G

A

intergenic

De novo

-

Yuen2017 G

QKI

2-1210-003

chr6:
165006189-165006189

T

G

intergenic

De novo

-

Yuen2017 G

QKI

1-0699-003

chr6:
165144483-165144483

T

C

intergenic

De novo

-

Yuen2017 G

QKI

AU039304

chr6:
164582988-164582988

C

T

intergenic

De novo

-

Yuen2017 G

QKI

2-1169-004

chr6:
164161767-164161767

G

A

intergenic

De novo

-

Yuen2017 G

QKI

AU011604

chr6:
164056199-164056199

G

T

intergenic

De novo

-

Yuen2017 G

QKI

1-0148-005

chr6:
164001557-164001557

C

T

intergenic

De novo

-

Yuen2017 G

QKI

2-0135-004

chr6:
164555070-164555070

C

T

intergenic

De novo

-

Yuen2017 G

QKI

5-0137-003

chr6:
164552225-164552225

G

C

intergenic

De novo

-

Yuen2017 G

QKI

1-0120-003

chr6:
164114279-164114279

A

G

intergenic

De novo

-

Yuen2017 G

QKI

1-0352-003

chr6:
164302490-164302490

A

C

intergenic

De novo

-

Yuen2016 G

QKI

2-1605-003

chr6:
164789085-164789085

A

T

intergenic

De novo

-

Yuen2017 G

QKI

AU3175303

chr6:
164490705-164490705

A

T

intergenic

De novo

-

Yuen2017 G

QKI

3-0458-000B

chr6:
164840103-164840103

C

A

intergenic

De novo

-

Yuen2017 G

QKI

AU1988302

chr6:
165037645-165037645

T

G

intergenic

De novo

-

Yuen2017 G

QKI

2-0305-003

chr6:
165035225-165035225

T

G

intergenic

De novo

-

Yuen2017 G

QKI

2-1526-004

chr6:
164592954-164592954

T

G

intergenic

De novo

-

Yuen2017 G

QKI

AU3725302

chr6:
164695153-164695153

T

C

intergenic

De novo

-

Yuen2017 G

QKI

AU4211304

chr6:
164023394-164023394

C

T

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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