Variant Results

or

Results for "AUTS2"

Variant Events: 170

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

AUTS2

REACH000520

chr7:
69685200-69685200

T

G

intronic

De novo

-

Trost2022 G

AUTS2

MSSNG00105-004

chr7:
69707398-69707398

A

G

intronic

De novo

-

Trost2022 G

AUTS2

9-0027-003

chr7:
69679526-69679526

G

A

intronic

De novo

-

Trost2022 G

AUTS2

2-1093-009

chr7:
69805681-69805681

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

MT_87.3

chr7:
69682908-69682908

G

A

intronic

De novo

-

Trost2022 G

AUTS2

MSSNG00352-003

chr7:
69626280-69626280

T

TC

intronic

De novo

-

Trost2022 G

AUTS2

REACH000597

chr7:
69632711-69632711

A

C

intronic

De novo

-

Trost2022 G

AUTS2

1-0402-004

chr7:
69868873-69868873

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

SJD_55.3

chr7:
69604791-69604791

C

T

intronic

De novo

-

Trost2022 G

AUTS2

5-0009-003

chr7:
69606469-69606469

G

A

intronic

De novo

-

Trost2022 G

AUTS2

MSSNG00417-003

chr7:
69787686-69787686

A

G

intronic

De novo

-

Trost2022 G

AUTS2

12360.p1

chr7:
69283187-69283188

TG

T

intronic

De novo

-

Wilfert2021 G

AUTS2

1-0465-003A

chr7:
69834050-69834050

A

G

intronic

De novo

-

Trost2022 G

AUTS2

7-0452-003

chr7:
69772703-69772703

T

TC

intronic

De novo

-

Trost2022 G

AUTS2

7-0199-003

chr7:
69784309-69784309

A

G

intronic

De novo

-

Trost2022 G

AUTS2

1-0300-004

chr7:
69780880-69780880

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

AU4032305

chr7:
69168407-69168407

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

3-0604-000

chr7:
69743259-69743259

T

C

intronic

De novo

-

Trost2022 G

AUTS2

1-0465-003a

chr7:
69834050-69834050

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

1-0887-003

chr7:
69765211-69765211

T

C

intronic

De novo

-

Trost2022 G

AUTS2

3-0668-000

chr7:
69726199-69726199

G

C

intronic

De novo

-

Trost2022 G

AUTS2

1-1100-003

chr7:
69734705-69734705

G

A

intronic

De novo

-

Trost2022 G

AUTS2

ASC_11207-1

chr7:
70231302-70231302

G

A

exonic

De novo

synonymous SNV

NM_001127231
NM_015570

c.G1671A
c.G1671A

p.P557P
p.P557P

9.466

4.957E-5

Fu2022 E

AUTS2

SJD_65.3

chr7:
69985668-69985668

C

T

intronic

De novo

-

Trost2022 G

AUTS2

Husson2020:215

chr7:
70228095-70228097

ACA

A

exonic

frameshift deletion

NM_001127231
NM_015570

c.983_984del
c.983_984del

p.T328fs
p.T328fs

-

Husson2020 E

AUTS2

P6Q4Z_01

chr7:
69993129-69993129

C

T

intronic

De novo

-

Trost2022 G

AUTS2

REACH000689

chr7:
69957629-69957629

G

A

intronic

De novo

-

Trost2022 G

AUTS2

SJD_66.3

chr7:
69970247-69970252

TAGAGA

T

intronic

De novo

-

Trost2022 G

AUTS2

2-1180-003

chr7:
69917554-69917554

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

AUTS2

MSSNG00013-003

chr7:
69933063-69933063

T

C

intronic

De novo

-

Trost2022 G

AUTS2

1-0563-004

chr7:
69951721-69951723

TGT

GGC

intronic

De novo

-

Trost2022 G

AUTS2

4-0062-003

chr7:
69864192-69864193

TC

AG

intronic

De novo

-

Trost2022 G

AUTS2

AU2688301

chr7:
69894057-69894057

C

T

intronic

De novo

-

Trost2022 G

AUTS2

AU2320301

chr7:
70031159-70031159

A

C

intronic

De novo

-

Trost2022 G

AUTS2

1-0562-003

chr7:
70049214-70049214

C

T

intronic

De novo

-

Trost2022 G

AUTS2

AU2320301

chr7:
70030100-70030100

A

C

intronic

De novo

-

Trost2022 G

AUTS2

AU4079301

chr7:
69295696-69295696

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

AU2320301

chr7:
70030106-70030106

A

T

intronic

De novo

-

Trost2022 G

AUTS2

AU2320301

chr7:
70029924-70029924

A

G

intronic

De novo

-

Trost2022 G

AUTS2

AU2320301

chr7:
70030065-70030065

T

C

intronic

De novo

-

Trost2022 G

AUTS2

AU3053301

chr7:
70397384-70397384

C

T

intergenic

De novo

-

Yuen2017 G

AUTS2

P6Q4Z_01

chr7:
69993131-69993131

A

T

intronic

De novo

-

Trost2022 G

AUTS2

1-1034-003

chr7:
70008034-70008034

C

A

intronic

De novo

-

Trost2022 G

AUTS2

14-613

chr7:
70191308-70191308

T

A

intronic

De novo

-

Trost2022 G

AUTS2

2-1751-003

chr7:
70226533-70226533

G

A

intronic

De novo

-

Trost2022 G

AUTS2

2-1690-003

chr7:
69374188-69374188

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

2-1535-003

chr7:
70110488-70110488

G

C

intronic

De novo

-

Trost2022 G

AUTS2

AU2320301

chr7:
70174181-70174181

G

A

intronic

De novo

-

Trost2022 G

AUTS2

3-0261-000

chr7:
70106486-70106486

G

A

intronic

De novo

-

Trost2022 G

AUTS2

1-1124-003

chr7:
70109756-70109756

A

T

intronic

De novo

-

Trost2022 G

AUTS2

AU4197301

chr7:
70497863-70497863

G

A

intergenic

De novo

-

Yuen2017 G

AUTS2

AU4237302

chr7:
70075159-70075159

A

AT

intronic

De novo

-

Trost2022 G

AUTS2

REACH000757

chr7:
70093646-70093646

T

C

intronic

De novo

-

Trost2022 G

AUTS2

AU1355301

chr7:
70005325-70005325

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0046-003

chr7:
69869939-69869939

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

AUTS2

10-1019-003

chr7:
70596319-70596319

G

A

intergenic

De novo

-

Trost2022 G

AUTS2

MSSNG00029-004

Complex Event; expand row to view variants

De novo

nonsynonymous SNV

NM_001127231
NM_015570
NM_001127231
NM_015570

c.G912C
c.G912C
c.A911C
c.A911C

p.Q304H
p.Q304H
p.Q304P
p.Q304P

8.472

-

Trost2022 G
Trost2022 G

AUTS2

MSSNG00434-003

chr7:
70236499-70236499

A

G

intronic

De novo

-

Trost2022 G

AUTS2

2-1459-003

chr7:
69611861-69611861

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

AUTS2

2-1127-003

chr7:
70280008-70280008

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

AUTS2

5-0073-003

chr7:
69904300-69904300

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

5-0095-003

chr7:
70543258-70543258

C

T

intergenic

De novo

-

Yuen2017 G

AUTS2

08C78430

chr7:
70246754-70246754

T

G

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

AUTS2

AU3779301

chr7:
70194463-70194463

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0171-005

chr7:
70333754-70333754

G

A

intergenic

De novo

-

Yuen2017 G

AUTS2

1-0289-003

chr7:
69108619-69108619

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

2-1269-003

chr7:
70135588-70135588

G

A

intronic

De novo

-

Yuen2017 G

AUTS2

7-0055-003

chr7:
69212045-69212045

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

SP0071240

chr7:
70231114-70231114

C

T

exonic

De novo

stopgain

NM_001127231
NM_015570

c.C1483T
c.C1483T

p.R495X
p.R495X

37.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

AUTS2

SP0013518

chr7:
69064822-69064823

GC

G

exonic

De novo

frameshift deletion

NM_001127231
NM_001127232
NM_015570

c.184delC
c.184delC
c.184delC

p.P62fs
p.P62fs
p.P62fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

AUTS2

Lee2020:69

chr7:
70255163-70255164

GG

G

exonic

frameshift deletion

NM_001127231
NM_015570

c.2890delG
c.2962delG

p.E964fs
p.E988fs

-

Lee2020 T

AUTS2

AU3846302

chr7:
70015606-70015606

G

T

intronic

De novo

-

Yuen2017 G

AUTS2

2-1235-004

chr7:
70491966-70491966

T

C

intergenic

De novo

-

Yuen2017 G

AUTS2

AU3645301

chr7:
70003295-70003295

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

A15

chr7:
69801049-69801049

C

T

intronic

De novo

-

Wu2018 G

AUTS2

AU3913302

chr7:
69673267-69673267

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

AU2022302

chr7:
70353573-70353573

C

A

intergenic

De novo

-

Yuen2017 G

AUTS2

SP0106401

chr7:
70229993-70229993

T

A

splicing

20.2

-

Zhou2022 GE

AUTS2

SP0247867

chr7:
70252278-70252278

C

T

exonic

stopgain

NM_001127231
NM_015570

c.C2320T
c.C2392T

p.R774X
p.R798X

36.0

-

Zhou2022 GE

AUTS2

1-0051-004

chr7:
69114258-69114258

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

SP0125204

chr7:
70231268-70231268

T

TC

exonic

frameshift insertion

NM_001127231
NM_015570

c.1638dupC
c.1638dupC

p.F546fs
p.F546fs

-

Zhou2022 GE

AUTS2

1-0344-003

chr7:
70438887-70438887

A

AAG

intergenic

De novo

-

Yuen2017 G

AUTS2

AU3175303

chr7:
69919757-69919757

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

7-0140-003

chr7:
69276981-69276981

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

AU050704

chr7:
70088730-70088730

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

AU1988302

chr7:
69582401-69582401

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

Wang2023:40

chr7:
70228031-70228032

AC

A

exonic

De novo

frameshift deletion

NM_001127231
NM_015570

c.919delC
c.919delC

p.P307fs
p.P307fs

-

Wang2023 E

AUTS2

2-0272-003

chr7:
69192748-69192748

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

7-0102-003

chr7:
70007764-70007764

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0153-004

chr7:
69079322-69079322

C

CTTTTCTTTCT

intronic

De novo

-

Yuen2017 G

AUTS2

14642.p1

chr7:
69203056-69203056

T

C

intronic

De novo

-

Turner2016 G

AUTS2

2-1188-003

chr7:
70093809-70093809

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

13023.p1

chr7:
69345245-69345245

C

T

intronic

De novo

-

Turner2016 G

AUTS2

AU2437302

chr7:
69404401-69404401

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

14153.p1

chr7:
69109325-69109325

C

T

intronic

De novo

-

Turner2016 G

AUTS2

1-0668-003

chr7:
70105268-70105268

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

11002.p1

chr7:
70444871-70444871

C

T

intergenic

De novo

-

Turner2016 G

AUTS2

AU075703

chr7:
70387043-70387043

G

A

intergenic

De novo

-

Yuen2017 G

AUTS2

AU1933301

chr7:
69228386-69228386

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0052-004

chr7:
69241109-69241111

CAG

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0277-003

chr7:
70084148-70084148

C

T

intronic

De novo

-

Yuen2017 G

AUTS2

AU4215302

chr7:
70286729-70286729

C

G

intergenic

De novo

-

Yuen2017 G

AUTS2

1-0271-004

chr7:
69403425-69403425

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

2-1407-003

chr7:
70255088-70255088

C

T

exonic

De novo

synonymous SNV

NM_001127231
NM_015570

c.C2814T
c.C2886T

p.A938A
p.A962A

-

2.363E-5

Yuen2016 G

AUTS2

AU4072303

chr7:
69071694-69071695

TG

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0539-003

chr7:
69831012-69831012

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0144-004

chr7:
69337397-69337397

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0465-003

chr7:
69834050-69834050

A

G

intronic

De novo

-

Yuen2017 G

AUTS2

1-0745-003

chr7:
69249613-69249613

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0112-004

chr7:
70518335-70518335

T

TGA

intergenic

De novo

-

Yuen2017 G

AUTS2

1-0497-003

chr7:
69919131-69919131

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

2-1506-003

chr7:
69340868-69340868

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

2-1338-003

chr7:
70173062-70173062

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

2-1741-003

chr7:
69852879-69852879

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

AU2293301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

AU4012302

chr7:
70340537-70340537

G

A

intergenic

De novo

-

Yuen2017 G

AUTS2

2-0063-003

chr7:
70376637-70376637

T

C

intergenic

De novo

-

Yuen2017 G

AUTS2

AU3761302

chr7:
70346293-70346293

G

A

intergenic

De novo

-

Yuen2017 G

AUTS2

1-0121-003

chr7:
70255089-70255089

G

A

exonic

De novo

nonsynonymous SNV

NM_001127231
NM_015570

c.G2815A
c.G2887A

p.E939K
p.E963K

17.17

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

AUTS2

1-0868-003

chr7:
70007126-70007126

G

T

intronic

De novo

-

Yuen2017 G

AUTS2

SP0146179

chr7:
70242102-70242102

G

A

exonic

De novo

stopgain

NM_001127231
NM_015570

c.G1874A
c.G1946A

p.W625X
p.W649X

28.2

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AUTS2

1-0756-003

chr7:
70438887-70438887

A

AAG

intergenic

De novo

-

Yuen2017 G

AUTS2

2-1629-003

chr7:
69539474-69539474

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

2-1456-003

chr7:
69411401-69411401

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

AU3903301

chr7:
69901598-69901598

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0546-003

chr7:
69238262-69238262

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

SP0046081

chr7:
69064950-69064950

T

C

splicing

Inherited

splicing

17.77

-

Feliciano2019 E

AUTS2

AU4463303

chr7:
69697901-69697901

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0973-003

chr7:
69287092-69287092

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

SP0074147

chr7:
70255938-70255938

G

A

exonic

De novo

nonsynonymous SNV

NM_001127231
NM_015570

c.G3664A
c.G3736A

p.E1222K
p.E1246K

21.9

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AUTS2

SP0093939

chr7:
70255083-70255083

G

A

exonic

De novo

nonsynonymous SNV

NM_001127231
NM_015570

c.G2809A
c.G2881A

p.E937K
p.E961K

28.5

-

Fu2022 E
Trost2022 G

AUTS2

SP0012036

chr7:
70232973-70232973

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G

AUTS2

SP0042928

chr7:
70230032-70230032

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

AUTS2

5-1008-003

chr7:
69090080-69090080

A

T

intronic

De novo

-

Trost2022 G

AUTS2

MSSNG00390-003

chr7:
69091187-69091187

G

A

intronic

De novo

-

Trost2022 G

AUTS2

2-1360-003

chr7:
69067082-69067082

A

C

intronic

De novo

-

Trost2022 G

AUTS2

J4K7A_01

chr7:
69090033-69090033

G

A

intronic

De novo

-

Trost2022 G

AUTS2

7-0253-005

chr7:
70573190-70573207

CAGAGAGAGAGAGAGAGA

CAGAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

AUTS2

AU2310301

chr7:
69193609-69193609

T

A

intronic

De novo

-

Trost2022 G

AUTS2

5-0103-003

chr7:
70069605-70069605

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0410-003

chr7:
69207891-69207891

G

A

intronic

De novo

-

Trost2022 G

AUTS2

5-1001-003

chr7:
69182507-69182507

C

T

intronic

De novo

-

Trost2022 G

AUTS2

MSSNG00063-003

chr7:
69192508-69192508

G

A

intronic

De novo

-

Trost2022 G

AUTS2

1-0903-003

chr7:
69170293-69170293

A

AG

intronic

De novo

-

Trost2022 G

AUTS2

1-0903-003

chr7:
69170312-69170317

GCTAGT

ATTTAC

intronic

De novo

-

Trost2022 G

AUTS2

7-0292-004A

chr7:
69136598-69136598

G

A

intronic

De novo

-

Trost2022 G

AUTS2

2-1297-004

chr7:
69618502-69618502

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0903-003

chr7:
69170284-69170289

GTAAAT

ACTAGC

intronic

De novo

-

Trost2022 G

AUTS2

MSSNG00153-003

chr7:
69469464-69469464

G

A

intronic

De novo

-

Trost2022 G

AUTS2

1-0321-004

chr7:
69736910-69736910

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

AUTPGX_1017

chr7:
69470746-69470746

G

A

intronic

De novo

-

Trost2022 G

AUTS2

SJD_50.3

chr7:
69377408-69377408

C

T

intronic

De novo

-

Trost2022 G

AUTS2

X3N7Y_01

chr7:
69466520-69466520

T

A

intronic

De novo

-

Trost2022 G

AUTS2

2-1120-003

chr7:
69571257-69571257

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

7-0352-003

chr7:
69323496-69323498

TTC

T

intronic

De novo

-

Trost2022 G

AUTS2

AU055603

chr7:
69352630-69352630

G

C

intronic

De novo

-

Trost2022 G

AUTS2

MSSNG00391-003

chr7:
69311488-69311488

G

A

intronic

De novo

-

Trost2022 G

AUTS2

2-1178-003

chr7:
69226444-69226444

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AUTS2

7-0258-004

chr7:
69313568-69313568

C

T

intronic

De novo

-

Trost2022 G

AUTS2

MT_21.3

chr7:
69589092-69589092

G

A

intronic

De novo

-

Trost2022 G

AUTS2

2-1267-003

chr7:
70211861-70211861

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

MSSNG00413-003

chr7:
69604051-69604051

C

T

intronic

De novo

-

Trost2022 G

AUTS2

AU2320301

chr7:
69533342-69533342

T

G

intronic

De novo

-

Trost2022 G

AUTS2

MSSNG00250-003

chr7:
69552460-69552460

A

G

intronic

De novo

-

Trost2022 G

AUTS2

2-1255-003

chr7:
69978991-69978991

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AUTS2

5-5164-003

chr7:
69530545-69530545

G

T

intronic

De novo

-

Trost2022 G

AUTS2

MSSNG00202-003

chr7:
69531134-69531134

T

G

intronic

De novo

-

Trost2022 G

AUTS2

7-0408-003

chr7:
69521815-69521815

A

G

intronic

De novo

-

Trost2022 G

AUTS2

AU2756306

chr7:
70036981-70036981

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

AUTS2

1-0738-003

chr7:
69523115-69523115

C

G

intronic

De novo

-

Trost2022 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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