Variant Results

or

Results for "TRIO"

Variant Events: 115

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

TRIO

2-1690-003

chr5:
14254900-14254900

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

7-0023-003

chr5:
14261797-14261797

C

T

intronic

De novo

-

Yuen2017 G

TRIO

AU4452302

chr5:
14360091-14360091

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

mAGRE5513

chr5:
14481661-14481662

AG

A

exonic

Maternal

frameshift deletion

NM_007118

c.6400delG

p.V2134fs

-

Cirnigliaro2023 G

TRIO

mAGRE5512

chr5:
14481661-14481662

AG

A

exonic

Maternal

frameshift deletion

NM_007118

c.6400delG

p.V2134fs

-

Cirnigliaro2023 G

TRIO

mAGRE4390

chr5:
14461227-14461227

G

A

exonic

De novo

nonsynonymous SNV

NM_007118

c.G5303A

p.R1768Q

31.0

-

Cirnigliaro2023 G

TRIO

1-0004-003

chr5:
14353083-14353086

GATT

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

AU3903302

chr5:
14487358-14487358

G

C

intronic

De novo

-

Yuen2017 G

TRIO

SF0144720.p2

chr5:
14363914-14363914

C

A

exonic

nonsynonymous SNV

NM_007118

c.C2465A

p.T822K

21.3

-

Wang2020 T

TRIO

SF0074175.p1

chr5:
14394211-14394211

G

A

exonic

nonsynonymous SNV

NM_007118

c.G4283A

p.R1428Q

25.9

-

Wang2020 T

TRIO

M26778

chr5:
14482770-14482770

G

A

exonic

Maternal

nonsynonymous SNV

NM_007118

c.G6545A

p.R2182H

32.0

5.779E-5

Guo2018 T

TRIO

AU050704

chr5:
14289444-14289444

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

Mahjani2021:6

chr5:
14374372-14374372

T

A

exonic

nonsynonymous SNV

NM_007118

c.T3251A

p.F1084Y

21.7

-

Mahjani2021 E

TRIO

AU1835302

chr5:
14481662-14481663

GT

T

exonic

Maternal

frameshift deletion

NM_007118

c.6400delG

p.V2134fs

-

Stessman2017 T

TRIO

1-0197-003

chr5:
14461752-14461752

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

SSC08153

chr5:
14394220-14394220

A

T

exonic

De novo

nonsynonymous SNV

NM_007118

c.A4292T

p.K1431M

17.83

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

TRIO

Lim2017:35953

chr5:
14364820-14364820

G

T

exonic

De novo

nonsynonymous SNV

NM_007118

c.G2649T

p.E883D

15.51

-

Lim2017 E

TRIO

3-0017-000

chr5:
14194074-14194074

C

T

intronic

De novo

-

Trost2022 G

TRIO

AUTPGX_1017

chr5:
14205910-14205910

C

T

intronic

De novo

-

Trost2022 G

TRIO

UK10K_SKUSE5080162

chr5:
14389434-14389435

AT

A

exonic

Unknown, De novo

frameshift deletion

NM_007118

c.3986delT

p.I1329fs

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

TRIO

SJD_50.5

chr5:
14161138-14161138

G

A

intronic

De novo

-

Trost2022 G

TRIO

10C116708

chr5:
14485178-14485178

G

C

exonic

Unknown, De novo

nonsynonymous SNV

NM_007118

c.G6658C

p.V2220L

14.74

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

TRIO

2-1466-003

chr5:
14366862-14366862

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TRIO

REACH000643

chr5:
14188901-14188901

G

T

intronic

De novo

-

Trost2022 G

TRIO

3-0548-000

chr5:
14146438-14146438

A

T

intronic

De novo

-

Trost2022 G

TRIO

SP0238911

chr5:
14291276-14291276

T

C

exonic

De novo

nonsynonymous SNV

NM_007118

c.T992C

p.V331A

12.03

-

Trost2022 G

TRIO

5-0033-004

chr5:
14476921-14476921

G

GAA

intronic

De novo

-

Yuen2017 G

TRIO

MT_40.3

chr5:
14299952-14299952

C

T

intronic

De novo

-

Trost2022 G

TRIO

2-1562-004

chr5:
14257969-14257969

C

TGGTA

intronic

De novo

-

Trost2022 G

TRIO

AU2835301

chr5:
14363928-14363928

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C2479T

p.R827C

16.83

-

Stessman2017 T

TRIO

4-0062-003

chr5:
14265678-14265678

A

T

intronic

De novo

-

Trost2022 G

TRIO

AU050403

chr5:
14207666-14207666

C

G

intronic

De novo

-

Trost2022 G

TRIO

1-0673-003

chr5:
14230117-14230117

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

MSSNG00375-003

chr5:
14222036-14222036

G

A

intronic

De novo

-

Trost2022 G

TRIO

AU050403

chr5:
14207662-14207662

C

G

intronic

De novo

-

Trost2022 G

TRIO

NDAR_INVHR105RBU_wes1

chr5:
14489220-14489220

C

G

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

TRIO

AU050403

chr5:
14207664-14207664

C

G

intronic

De novo

-

Trost2022 G

TRIO

1-0150-004

chr5:
14407065-14407065

T

C

intronic

De novo

-

Trost2022 G

TRIO

M21717

chr5:
14482770-14482770

G

A

exonic

Maternal

nonsynonymous SNV

NM_007118

c.G6545A

p.R2182H

32.0

5.779E-5

Guo2018 T
Wang2016 T

TRIO

1-0150-004

chr5:
14407068-14407070

AAT

CTG

intronic

De novo

-

Trost2022 G

TRIO

MSSNG00403-003

chr5:
14390122-14390122

A

G

intronic

De novo

-

Trost2022 G

TRIO

1-0150-004

chr5:
14407061-14407062

AC

G

intronic

De novo

-

Trost2022 G

TRIO

SP0045624

chr5:
14280580-14280580

T

C

intronic

De novo

-

Fu2022 E

TRIO

MT_50.3

chr5:
14379468-14379468

A

G

intronic

De novo

-

Trost2022 G

TRIO

SP0040355

chr5:
14369581-14369581

C

T

exonic

De novo

synonymous SNV

NM_007118

c.C3165T

p.H1055H

-

5.795E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

TRIO

7-0457-004

chr5:
14387418-14387418

G

C

intronic

De novo

-

Trost2022 G

TRIO

Hu2022:30

chr5:
14474205-14474205

G

A

exonic

Unknown

nonsynonymous SNV

NM_007118

c.G6082A

p.D2028N

29.3

8.248E-6

Hu2022 T

TRIO

SP0145040

chr5:
14485396-14485396

C

T

intronic

De novo

-

1.765E-5

Fu2022 E

TRIO

REACH000564

chr5:
14300672-14300672

G

T

intronic

De novo

-

Trost2022 G

TRIO

Hu2022:29

chr5:
14508475-14508475

C

T

exonic

Paternal

stopgain

NM_007118

c.C9238T

p.R3080X

49.0

-

Hu2022 T

TRIO

SP0004617

chr5:
14286938-14286938

A

C

intronic

De novo

-

Fu2022 E

TRIO

REACH000173

chr5:
14331625-14331626

GT

G

intronic

De novo

-

Trost2022 G

TRIO

SP0181717

chr5:
14461399-14461399

G

A

exonic

De novo

synonymous SNV

NM_007118

c.G5475A

p.P1825P

-

Trost2022 G

TRIO

SP0195836

chr5:
14474154-14474154

A

G

exonic

De novo

nonsynonymous SNV

NM_007118

c.A6031G

p.K2011E

29.4

-

Trost2022 G

TRIO

2-1359-003

chr5:
14443996-14443996

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

7-0240-005

chr5:
14450284-14450284

A

G

intronic

De novo

-

Trost2022 G

TRIO

1-0346-004

chr5:
14456013-14456016

CCCT

TCGA

intronic

De novo

-

Trost2022 G

TRIO

02C11625

chr5:
14461227-14461227

G

A

exonic

De novo

nonsynonymous SNV

NM_007118

c.G5303A

p.R1768Q

31.0

-

Stessman2017 T

TRIO

1-0150-004

chr5:
14407088-14407088

G

A

intronic

De novo

-

Trost2022 G

TRIO

1-0150-004

chr5:
14407091-14407091

C

GT

intronic

De novo

-

Trost2022 G

TRIO

1-0150-004

chr5:
14407075-14407078

TTCC

GGAA

intronic

De novo

-

Trost2022 G

TRIO

3-0428-000

chr5:
14309707-14309707

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TRIO

1-0150-004

chr5:
14407083-14407085

CAG

ATT

intronic

De novo

-

Trost2022 G

TRIO

SP0125277

chr5:
14487787-14487787

C

T

exonic

De novo

synonymous SNV

NM_007118

c.C7050T

p.P2350P

-

Trost2022 G

TRIO

2-1647-003

chr5:
14509459-14509459

C

T

downstream

De novo

-

Trost2022 G

TRIO

5-5177-003

chr5:
14478721-14478721

G

A

intronic

De novo

-

Trost2022 G

TRIO

MSSNG00032-004

chr5:
14480121-14480121

G

A

splicing

De novo

splicing

19.01

-

Trost2022 G

TRIO

M17604

chr5:
14507310-14507310

G

A

exonic

Unknown

nonsynonymous SNV

NM_007118

c.G8692A

p.E2898K

36.0

-

Guo2018 T
Wang2016 T

TRIO

2-1371-003

chr5:
14559096-14559096

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TRIO

2-1295-003

chr5:
14410700-14410700

T

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

TRIO

M21489

chr5:
14481684-14481684

G

T

exonic

Paternal

nonsynonymous SNV

NM_007118

c.G6422T

p.R2141L

31.0

-

Guo2018 T
Wang2016 T

TRIO

35953

chr5:
14364820-14364820

G

T

exonic

De novo

nonsynonymous SNV

NM_007118

c.G2649T

p.E883D

15.51

-

Fu2022 E
Trost2022 G

TRIO

AU0239-0201

chr5:
14293212-14293212

C

T

exonic

De novo

nonsynonymous SNV

NM_007118

c.C1145T

p.T382M

19.58

-

Fu2022 E

TRIO

5317

chr5:
14388774-14388774

C

T

exonic

De novo

nonsynonymous SNV

NM_007118

c.C3934T

p.R1312W

17.34

1.649E-5

Fu2022 E
Trost2022 G

TRIO

Hu2022:68

chr5:
14387875-14387875

G

A

exonic

Unknown

nonsynonymous SNV

NM_007118

c.G3800A

p.S1267N

19.04

-

Hu2022 T

TRIO

2-1163-003

chr5:
14567353-14567353

G

A

intergenic

De novo

-

Yuen2016 G

TRIO

03C16909

chr5:
14293139-14293139

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C1072T

p.H358Y

19.99

-

Stessman2017 T

TRIO

5-0026-003

chr5:
14392982-14392982

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

AU3903301

chr5:
14146707-14146707

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

JASD_Fam0262

chr5:
14143965-14143965

C

T

exonic

De novo

nonsynonymous SNV

NM_007118

c.C131T

p.A44V

14.16

-

Takata2018 E

TRIO

13852.p1

chr5:
14487884-14487884

C

G

exonic

De novo

nonsynonymous SNV

NM_007118

c.C7147G

p.P2383A

2.47

-

Wilfert2021 G
Zhou2022 GE

TRIO

3-0080-000

chr5:
14285802-14285802

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TRIO

2-1330-003

chr5:
14215452-14215452

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TRIO

5-0129-003

chr5:
14485734-14485734

G

A

intronic

De novo

-

Yuen2017 G

TRIO

7-0251-003

chr5:
14501396-14501396

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

13277.p1

chr5:
14364820-14364820

G

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_007118

c.G2649T

p.E883D

15.51

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE

TRIO

11009.p1

chr5:
14388774-14388774

C

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_007118

c.C3934T

p.R1312W

17.34

1.649E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE

TRIO

13621.p1

chr5:
14394220-14394220

A

T

exonic

Unknown, De novo

nonsynonymous SNV

NM_007118

c.A4292T

p.K1431M

17.83

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE

TRIO

12477.p1

chr5:
14472686-14472686

A

ATT

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

TRIO

ACGC_HN0052.p1

chr5:
14387671-14387671

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C3695T

p.S1232F

21.9

-

Wang2020 T

TRIO

ACGC_M11429

chr5:
14374420-14374420

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C3299T

p.T1100M

16.02

1.704E-5

Wang2020 T

TRIO

ACGC_GD0029.p1

chr5:
14482784-14482784

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C6559T

p.R2187C

20.6

-

Wang2020 T

TRIO

ACGC_M19755

chr5:
14471518-14471518

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C5855T

p.S1952F

19.76

-

Wang2020 T

TRIO

SAGE_BK_712_01

chr5:
14387944-14387944

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C3869T

p.A1290V

25.3

-

Wang2020 T

TRIO

AGRE_03C16909

chr5:
14293139-14293139

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C1072T

p.H358Y

19.99

-

Wang2020 T

TRIO

1-0826-004

chr5:
14179698-14179698

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

Leuven2_86173747

chr5:
14390354-14390354

A

G

exonic

Unknown

nonsynonymous SNV

NM_007118

c.A4073G

p.E1358G

17.26

-

Wang2020 T

TRIO

Gecz3_40568

chr5:
14471497-14471497

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C5834T

p.S1945L

18.81

1.657E-5

Wang2020 T

TRIO

ACGC_M20306

chr5:
14359525-14359525

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C2276T

p.T759M

17.9

4.119E-5

Wang2020 T

TRIO

2-1562-003

chr5:
14406586-14406586

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRIO

JS0073.p1

chr5:
14507347-14507347

G

A

exonic

Unknown

nonsynonymous SNV

NM_007118

c.G8729A

p.R2910K

36.0

-

Guo2018 T

TRIO

Gecz3_41755

chr5:
14471497-14471497

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C5834T

p.S1945L

18.81

1.657E-5

Wang2020 T

TRIO

Gecz3_41753

chr5:
14471497-14471497

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C5834T

p.S1945L

18.81

1.657E-5

Wang2020 T

TRIO

Melbourne2_ASD_1604

chr5:
14498281-14498281

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C8131T

p.R2711C

24.8

2.471E-5

Wang2020 T

TRIO

AGRE_AU2835301

chr5:
14363928-14363928

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C2479T

p.R827C

16.83

-

Wang2020 T

TRIO

ITAN_2822

chr5:
14387943-14387943

G

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.G3868T

p.A1290S

25.8

8.414E-6

Wang2020 T

TRIO

APP_109975-100

chr5:
14498281-14498281

C

T

exonic

Unknown

nonsynonymous SNV

NM_007118

c.C8131T

p.R2711C

24.8

2.471E-5

Wang2020 T

TRIO

Leuven2_65286189

chr5:
14462864-14462864

A

T

exonic

Unknown

stopgain

NM_007118

c.A5497T

p.R1833X

45.0

-

Wang2020 T

TRIO

SP0074175

chr5:
14394211-14394211

G

A

exonic

De novo

nonsynonymous SNV

NM_007118

c.G4283A

p.R1428Q

25.9

-

Antaki2022 GE
Fu2022 E
Zhou2022 GE

TRIO

Leuven_73024275

chr5:
14387626-14387626

T

TA

exonic

Unknown

frameshift insertion

NM_007118

c.3651dupA

p.I1217fs

-

Wang2020 T

TRIO

SP0144729

chr5:
14363914-14363914

C

A

exonic

De novo

nonsynonymous SNV

NM_007118

c.C2465A

p.T822K

21.3

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TRIO

AGRE_AU1835302

chr5:
14481661-14481662

AG

A

exonic

Maternal

frameshift deletion

NM_007118

c.6400delG

p.V2134fs

-

Wang2020 T

TRIO

AGRE_07C70213

chr5:
14481661-14481662

AG

A

exonic

Maternal

frameshift deletion

NM_007118

c.6400delG

p.V2134fs

-

Wang2020 T

TRIO

1-0998-003

chr5:
14173441-14173441

T

G

intronic

De novo

-

Yuen2017 G

TRIO

07C70213

chr5:
14481662-14481663

GT

T

exonic

Maternal

frameshift deletion

NM_007118

c.6400delG

p.V2134fs

-

Stessman2017 T

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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