Variant Results

or

Results for "FRYL"

Variant Events: 55

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

FRYL

12532.p1

chr4:
48514594-48514594

T

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_015030

c.A8049C

p.E2683D

12.74

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G

FRYL

AU038703

chr4:
48756592-48756592

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRYL

AU1521301

chr4:
48811543-48811543

A

G

intergenic

De novo

-

Yuen2017 G

FRYL

3-0018-000

chr4:
48770764-48770764

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRYL

12237.p1

chr4:
48583513-48583513

C

G

exonic

De novo

nonsynonymous SNV

NM_015030

c.G2096C

p.R699P

24.4

2.525E-5

Ji2016 E
Krumm2015 E

FRYL

AU4473301

chr4:
48597714-48597714

G

T

exonic

De novo

nonsynonymous SNV

NM_015030

c.C1141A

p.R381S

35.0

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

FRYL

AU4429301

chr4:
48797473-48797473

C

A

intergenic

De novo

-

Yuen2017 G

FRYL

2-0309-004

chr4:
48655106-48655106

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRYL

2-1391-003

chr4:
48733330-48733330

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRYL

AU1909304

chr4:
48788321-48788321

G

A

intergenic

De novo

-

Yuen2017 G

FRYL

1-0261-003

chr4:
48529355-48529355

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRYL

AU3801301

chr4:
48499687-48499687

C

T

UTR3

De novo

-

Trost2022 G
Yuen2017 G

FRYL

G01_GEA531HI

chr4:
48530449-48530450

TA

T

intronic

De novo

-

Fu2022 E

FRYL

11C120635

chr4:
48563484-48563484

C

T

splicing

De novo

splicing

15.04

-

DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE

FRYL

2-1436-003

chr4:
48815166-48815166

C

T

intergenic

De novo

-

Yuen2017 G

FRYL

80001100728

chr4:
48530254-48530254

A

T

exonic

De novo

nonsynonymous SNV

NM_015030

c.T7003A

p.S2335T

15.42

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FRYL

1-0554-003

chr4:
48523075-48523075

C

T

exonic

De novo

nonsynonymous SNV

NM_015030

c.G7679A

p.R2560Q

7.459

5.001E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

FRYL

SP0034447

chr4:
48517112-48517112

T

C

exonic

De novo

nonsynonymous SNV

NM_015030

c.A7870G

p.T2624A

13.25

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FRYL

SP0036681

chr4:
48583527-48583527

A

C

exonic

De novo

nonsynonymous SNV

NM_015030

c.T2082G

p.I694M

7.369

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FRYL

SP0052528

chr4:
48581053-48581053

A

C

exonic

De novo

nonsynonymous SNV

NM_015030

c.T2465G

p.V822G

18.84

-

Fu2022 E

FRYL

SP0122935

chr4:
48524914-48524914

A

C

intronic

De novo

-

Trost2022 G

FRYL

09C99958A

chr4:
48517342-48517342

T

A

intronic

De novo

-

Kosmicki2017 E

FRYL

1-0207-005

chr4:
48540918-48540918

C

G

intronic

De novo

-

Trost2022 G

FRYL

AM01ZF-04

chr4:
48522937-48522942

TAACTC

T

intronic

De novo

-

Trost2022 G

FRYL

SP0010928

chr4:
48524914-48524914

A

C

intronic

De novo

-

Trost2022 G

FRYL

SP0111195

chr4:
48502211-48502211

G

C

exonic

De novo

synonymous SNV

NM_015030

c.C8619G

p.A2873A

-

Fu2022 E
Zhou2022 GE

FRYL

REACH000322

chr4:
48507330-48507330

G

A

intronic

De novo

-

Trost2022 G

FRYL

SP0077915

chr4:
48563486-48563486

T

G

exonic

De novo

synonymous SNV

NM_015030

c.A3864C

p.S1288S

-

Fu2022 E

FRYL

3-0142-000

chr4:
48509904-48509904

G

A

intronic

De novo

-

Trost2022 G

FRYL

SP0115947

chr4:
48544052-48544052

G

T

exonic

De novo

synonymous SNV

NM_015030

c.C5679A

p.A1893A

8.538

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FRYL

SP0009187

chr4:
48524930-48524930

T

G

exonic

De novo

synonymous SNV

NM_015030

c.A7509C

p.S2503S

0.051

-

Fu2022 E

FRYL

AU3632301

chr4:
48505422-48505422

G

C

intronic

De novo

-

Trost2022 G

FRYL

2-1179-003

chr4:
48705657-48705657

T

G

intronic

De novo

-

Trost2022 G

FRYL

7-0438-003

chr4:
48719412-48719412

G

A

intronic

De novo

-

Trost2022 G

FRYL

4-0062-003

chr4:
48681565-48681565

T

G

intronic

De novo

-

Trost2022 G

FRYL

4-0062-003

chr4:
48681568-48681569

GG

CA

intronic

De novo

-

Trost2022 G

FRYL

AU2072302

chr4:
48654796-48654796

A

G

intronic

De novo

-

Yuen2017 G

FRYL

MSSNG00127-004

chr4:
48627648-48627648

T

C

intronic

De novo

-

Trost2022 G

FRYL

1-0841-003

chr4:
48755107-48755107

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRYL

7-0470-003

chr4:
48661010-48661010

C

T

intronic

De novo

-

Trost2022 G

FRYL

3-0072-000

chr4:
48575389-48575389

A

G

intronic

De novo

-

Trost2022 G

FRYL

4-0074-003

chr4:
48626694-48626694

A

C

intronic

De novo

-

Trost2022 G

FRYL

MSSNG00089-003

chr4:
48563534-48563534

G

A

exonic

De novo

synonymous SNV

NM_015030

c.C3816T

p.S1272S

1.709

8.295E-6

Trost2022 G
Zhou2022 GE

FRYL

5-5030-003

chr4:
48766439-48766439

G

A

intronic

De novo

-

Trost2022 G

FRYL

MSSNG00254-004

chr4:
48778655-48778655

C

A

intronic

De novo

-

Trost2022 G

FRYL

3-0832-000

chr4:
48741740-48741740

A

T

intronic

De novo

-

Trost2022 G

FRYL

5-5111-003

chr4:
48756563-48756563

G

A

intronic

De novo

-

Trost2022 G

FRYL

SP0049520

chr4:
48533192-48533192

A

G

exonic

nonsynonymous SNV

NM_015030

c.T6884C

p.F2295S

22.8

-

Zhou2022 GE

FRYL

L7H6W_01

chr4:
48727212-48727212

C

T

intronic

De novo

-

Trost2022 G

FRYL

579-05-104393

chr4:
48569420-48569420

T

A

exonic

De novo

nonsynonymous SNV

NM_015030

c.A3014T

p.D1005V

17.17

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FRYL

MT_182.4

chr4:
48730375-48730376

GA

G

intronic

De novo

-

Trost2022 G

FRYL

AU3052302

chr4:
48591731-48591731

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FRYL

2-0013-003

chr4:
48759264-48759264

G

GGGCA

intronic

De novo

-

Yuen2017 G

FRYL

mAGRE5139

chr4:
48523183-48523183

A

C

exonic

Paternal

stopgain

NM_015030

c.T7571G

p.L2524X

49.0

-

Cirnigliaro2023 G

FRYL

AU4234302

chr4:
48554386-48554386

T

C

intronic

De novo

-

Trost2022 G
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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