Variant Results

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
147402907-147402907

Leblond2019 E

CNTNAP2

1-0006-004

C

A

intronic

De novo

-

Yuen2017 G

CNTNAP2

AU4306302

chr7:
146398475-146398475

A

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

1-0465-003a

chr7:
146796293-146796293

A

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

2-0300-003

chr7:
148192241-148192241

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP2

7-0100-004

chr7:
146932119-146932119

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP2

1-0368-004

chr7:
147490259-147490259

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

AU3076302

chr7:
148119145-148119145

C

T

intergenic

De novo

-

Yuen2017 G

CNTNAP2

P007

chr7:
147914415-147914415

C

T

exonic

Inherited

stopgain

NM_014141

c.C3046T

p.R1016X

40.0

8.239E-6

Long2019 ET

CNTNAP2

PN400524

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
147815222-147815222

Leblond2019 E

CNTNAP2

Li2017:23062

A

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.A2396G

p.N799S

19.45

-

Li2017 T

CNTNAP2

Li2017:16283

chr7:
147869357-147869357

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T2797C

p.F933L

33.0

-

Li2017 T

CNTNAP2

2-0273-003

chr7:
147329307-147329308

AT

A

intronic

De novo

-

Yuen2017 G

CNTNAP2

Li2017:23082

chr7:
146805341-146805341

C

T

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C653T

p.T218M

17.29

3.302E-5

Li2017 T

CNTNAP2

7-0167-003

chr7:
146304967-146304967

C

A

intronic

De novo

-

Yuen2017 G

CNTNAP2

2-1507-003

chr7:
146943173-146943173

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP2

AU011021

chr7:
146834880-146834880

A

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

1-0484-003

chr7:
145915359-145915359

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP2

2-0256-004

chr7:
145903449-145903449

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

2-1337-003

chr7:
147324378-147324378

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP2

PN400568

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
148123760-148123760

Leblond2019 E

CNTNAP2

2-1281-003

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP2

2-1459-003

chr7:
148279649-148279649

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP2

PN400412

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

Leblond2019 E

CNTNAP2

PN400137

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

Leblond2019 E

CNTNAP2

PN400249

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
146556079-146556079

Leblond2019 E

CNTNAP2

1-0556-003

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

2-1299-003

chr7:
147439038-147439038

C

A

intronic

De novo

-

Yuen2017 G

CNTNAP2

AU066206

chr7:
146371397-146371397

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:1

chr7:
146818176-146818176

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G860A

p.S287N

12.89

5.767E-5

Murdoch2015 T

CNTNAP2

AN00090

chr7:
146805310-146805310

C

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C622A

p.L208M

16.99

-

D’Gama2015 T

CNTNAP2

Murdoch2015:4

chr7:
147815302-147815302

T

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T2476G

p.Y826D

24.4

-

Murdoch2015 T

CNTNAP2

Murdoch2015:5

chr7:
147844726-147844726

C

T

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C2698T

p.R900W

25.4

3.296E-5

Murdoch2015 T

CNTNAP2

Murdoch2015:2

chr7:
146818140-146818140

A

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.A824G

p.H275R

24.5

-

Murdoch2015 T

CNTNAP2

AN03345

chr7:
146805322-146805322

A

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.A634G

p.I212V

21.1

-

D’Gama2015 T

CNTNAP2

2-0149-004

chr7:
146536632-146536632

T

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:3

chr7:
148080939-148080939

C

T

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C3674T

p.S1225L

15.36

8.598E-6

Murdoch2015 T

CNTNAP2

Murdoch2015:8

chr7:
147674986-147674986

A

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.A2288G

p.D763G

21.8

1.647E-5

Murdoch2015 T

CNTNAP2

Murdoch2015:9

chr7:
146471423-146471423

C

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C158G

p.S53C

15.1

8.305E-6

Murdoch2015 T

CNTNAP2

Murdoch2015:6

chr7:
147914500-147914500

C

T

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C3131T

p.P1044L

4.676

4.948E-5

Murdoch2015 T

CNTNAP2

AU058105

chr7:
146208335-146208335

T

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:7

chr7:
147964213-147964213

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T3470C

p.V1157A

21.4

-

Murdoch2015 T

CNTNAP2

2-1477-003

chr7:
145938253-145938253

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CNTNAP2

Murdoch2015:12

chr7:
147600681-147600681

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T2123C

p.V708A

24.3

5.0E-4

Murdoch2015 T

CNTNAP2

Murdoch2015:13

chr7:
147926795-147926795

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T3305C

p.V1102A

9.54

7.0E-4

Murdoch2015 T

CNTNAP2

AU4435301

chr7:
146888860-146888860

A

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:10

chr7:
146536932-146536932

A

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.A338G

p.Y113C

21.9

8.244E-5

Murdoch2015 T

CNTNAP2

AU4356302

chr7:
146656150-146656150

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:11

chr7:
146825806-146825806

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T961C

p.F321L

6.607

-

Murdoch2015 T

CNTNAP2

Murdoch2015:16

chr7:
146741012-146741012

A

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.A416G

p.N139S

16.34

1.648E-5

Murdoch2015 T

CNTNAP2

Murdoch2015:17

chr7:
147844685-147844685

C

T

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C2657T

p.T886I

12.65

-

Murdoch2015 T

CNTNAP2

Murdoch2015:14

chr7:
147914449-147914449

G

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G3080C

p.R1027T

10.47

1.648E-5

Murdoch2015 T

CNTNAP2

Murdoch2015:15

chr7:
146825896-146825896

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G1051A

p.A351T

36.0

4.12E-5

Murdoch2015 T

CNTNAP2

PN400350

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
146829473-146829473

Leblond2019 E

CNTNAP2

Murdoch2015:20

A

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.A1220G

p.N407S

9.12

9.0E-4

Murdoch2015 T

CNTNAP2

AU4231301

chr7:
146501606-146501606

A

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:21

chr7:
146829505-146829505

A

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.A1252G

p.N418D

8.666

8.254E-6

Murdoch2015 T

CNTNAP2

2-0286-003

chr7:
146085273-146085273

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:18

chr7:
148106525-148106525

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T3758C

p.I1253T

16.7

chr7:
147600763-147600763

Murdoch2015 T

CNTNAP2

Murdoch2015:19

C

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C2205G

p.N735K

28.0

-

Murdoch2015 T

CNTNAP2

1-0272-004

chr7:
147340738-147340738

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:24

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T2606C

p.I869T

16.48

Murdoch2015 T

CNTNAP2

Murdoch2015:25

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T2606C

p.I869T

16.48

chr7:
146954511-146954511

Murdoch2015 T

CNTNAP2

1-0756-005

G

C

intronic

De novo

-

Yuen2017 G

CNTNAP2

2-0278-003

chr7:
146796410-146796410

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:22

chr7:
147600705-147600705

A

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.A2147G

p.Y716C

14.63

2.486E-5

Murdoch2015 T

CNTNAP2

1-0701-003

chr7:
146162826-146162826

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

1-0756-005

chr7:
146007616-146007616

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:23

chr7:
147600749-147600749

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2191A

p.G731S

29.7

8.433E-6

Murdoch2015 T

CNTNAP2

AU3692301

chr7:
146383772-146383772

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:28

chr7:
147926846-147926846

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G3356A

p.R1119H

23.5

2.473E-5

Murdoch2015 T

CNTNAP2

1-0582-003

chr7:
147334624-147334627

CTGT

CT

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:29

chr7:
147964128-147964128

G

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G3385C

p.D1129H

15.79

8.237E-6

Murdoch2015 T

CNTNAP2

Murdoch2015:26

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T2606C

p.I869T

16.48

chr7:
147844745-147844745

Murdoch2015 T

CNTNAP2

Murdoch2015:27

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2717A

p.R906H

17.62

4.123E-5

Murdoch2015 T

CNTNAP2

AU3122301

chr7:
147388092-147388092

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:32

chr7:
148112545-148112545

C

T

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C3833T

p.T1278I

6.367

2.484E-5

Murdoch2015 T

CNTNAP2

Murdoch2015:33

chr7:
146471465-146471465

A

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.A200G

p.K67R

1.171

1.733E-5

Murdoch2015 T

CNTNAP2

Murdoch2015:30

chr7:
148080944-148080944

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G3679A

p.A1227T

16.47

8.636E-6

Murdoch2015 T

CNTNAP2

Murdoch2015:31

chr7:
148106525-148106525

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T3758C

p.I1253T

16.7

chr7:
146829419-146829419

Murdoch2015 T

CNTNAP2

Murdoch2015:36

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G1166A

p.R389Q

12.29

chr7:
146796007-146796007

Murdoch2015 T

CNTNAP2

AU3782303

C

A

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:37

chr7:
146829500-146829500

C

T

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C1247T

p.A416V

12.25

0.0018

Murdoch2015 T

CNTNAP2

Murdoch2015:34

chr7:
146536934-146536934

C

T

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C340T

p.R114W

19.99

3.298E-5

Murdoch2015 T

CNTNAP2

Murdoch2015:35

chr7:
146536994-146536994

T

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T400G

p.W134G

14.21

chr7:
147675079-147675079

Murdoch2015 T

CNTNAP2

Murdoch2015:40

A

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.A2381G

p.D794G

25.1

8.254E-6

Murdoch2015 T

CNTNAP2

1-0604-003

chr7:
146091132-146091132

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:41

chr7:
147815275-147815275

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2449A

p.G817R

29.0

3.295E-5

Murdoch2015 T

CNTNAP2

Murdoch2015:38

chr7:
147092805-147092805

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G1603A

p.E535K

13.83

2.474E-5

Murdoch2015 T

CNTNAP2

AU057503

chr7:
146042001-146042001

C

A

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:39

chr7:
147675066-147675066

C

T

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C2368T

p.R790C

25.1

chr7:
146370640-146370640

Murdoch2015 T

CNTNAP2

AU057503

G

C

intronic

De novo

-

Yuen2017 G

CNTNAP2

Li2017:18494

chr7:
147183035-147183035

C

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C1679G

p.P560R

20.7

-

Li2017 T

CNTNAP2

Murdoch2015:44

chr7:
147964128-147964128

G

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G3385C

p.D1129H

15.79

8.237E-6

Murdoch2015 T

CNTNAP2

PN400264

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
148080944-148080944

Leblond2019 E

CNTNAP2

Murdoch2015:45

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G3679A

p.A1227T

16.47

8.636E-6

Murdoch2015 T

CNTNAP2

Murdoch2015:42

chr7:
147844595-147844595

T

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T2567A

p.V856E

24.6

-

Murdoch2015 T

CNTNAP2

1-0022-004

chr7:
148105328-148105328

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP2

Murdoch2015:43

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T2606C

p.I869T

16.48

chr7:
148112631-148112631

Murdoch2015 T

CNTNAP2

Murdoch2015:48

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G3919A

p.A1307T

25.8

5.768E-5

Murdoch2015 T

CNTNAP2

Murdoch2015:46

chr7:
148106525-148106525

T

C

exonic

Unknown

nonsynonymous SNV

NM_014141

c.T3758C

p.I1253T

16.7

chr7:
148112545-148112545

Murdoch2015 T

CNTNAP2

Murdoch2015:47

C

T

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C3833T

p.T1278I

6.367

2.484E-5

Murdoch2015 T

CNTNAP2

A09019-1

chr7:
146471417-146471417

C

G

exonic

Unknown

nonsynonymous SNV

NM_014141

c.C152G

p.S51C

23.2

-

Li2017 T

CNTNAP2

5-0074-003

chr7:
146301421-146301421

A

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

PN400579

G

A

exonic

Inherited, Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
148273913-148273913

Leblond2019 E
Leblond2019 E

CNTNAP2

2-1154-003

A

G

intergenic

De novo

-

Yuen2017 G

CNTNAP2

1-0591-003

chr7:
147564863-147564863

G

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

2-1605-003

chr7:
147321475-147321475

T

TTATA

intronic

De novo

-

Yuen2017 G

CNTNAP2

1-0564-003

chr7:
146524105-146524105

A

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

SP0028519

chr7:
147914427-147914427

C

T

exonic

De novo

stopgain

NM_014141

c.C3058T

p.Q1020X

39.0

-

Feliciano2019 E
Fu2022 E

CNTNAP2

7-0102-003

chr7:
146359965-146359965

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

PN400543

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
147431366-147431366

Leblond2019 E

CNTNAP2

AU3730301

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

PN400581

G

A

exonic

Inherited, Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
146481913-146481913

Leblond2019 E
Leblond2019 E

CNTNAP2

AU4239301

C

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

AU4033305

chr7:
148216448-148216448

G

A

intergenic

De novo

-

Yuen2017 G

CNTNAP2

2-1525-003

chr7:
147467228-147467228

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP2

A2

chr7:
146295830-146295830

T

C

intronic

De novo

-

Wu2018 G

CNTNAP2

1-0046-003

chr7:
146833088-146833088

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP2

1-0465-003

chr7:
146796293-146796293

A

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

1-0022-003

chr7:
148105328-148105328

G

A

intronic

De novo

-

Yuen2016 G

CNTNAP2

PN400518

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

Leblond2019 E

CNTNAP2

PN400424

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

Leblond2019 E

CNTNAP2

PN400267

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

Leblond2019 E

CNTNAP2

PN400582

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
146984568-146984568

Leblond2019 E

CNTNAP2

3-0437-000

C

A

intronic

De novo

-

Yuen2016 G

CNTNAP2

Alvarez-Mora2016:ASD-17

chr7:
147914587-147914587

A

T

exonic

Paternal

nonsynonymous SNV

NM_014141

c.A3218T

p.D1073V

22.5

-

Alvarez-Mora2016 T

CNTNAP2

AU053503

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

CNTNAP2

1-0032-003

chr7:
146388346-146388346

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP2

PN400396

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

Leblond2019 E

CNTNAP2

PN400533

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
146900950-146900950

Leblond2019 E

CNTNAP2

2-1629-003

A

T

intronic

De novo

-

Yuen2017 G

CNTNAP2

2-1644-004

chr7:
146267480-146267480

G

A

intronic

De novo

-

Yuen2017 G

CNTNAP2

PN400521

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7

chr7:
146805343-146805343

Leblond2019 E

CNTNAP2

SP0083322

T

A

exonic

De novo

nonsynonymous SNV

NM_014141

c.T655A

p.S219T

8.53

-

Fu2022 E

CNTNAP2

SP0098450

chr7:
148112574-148112574

C

T

exonic

De novo

nonsynonymous SNV

NM_014141

c.C3862T

p.R1288C

29.6

5.778E-5

Fu2022 E

CNTNAP2

2-0109-003

chr7:
146114411-146114411

A

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

AU015903

chr7:
145952674-145952674

T

C

intronic

De novo

-

Yuen2017 G

CNTNAP2

AU3889305

chr7:
146577028-146577028

T

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

AU026412

chr7:
146290577-146290577

A

G

intronic

De novo

-

Yuen2017 G

CNTNAP2

SP0068911

chr7:
146825982-146825982

T

C

intronic

De novo

-

Fu2022 E

CNTNAP2

SP0071187

chr7:
146537077-146537077

T

C

intronic

De novo

-

Fu2022 E

CNTNAP2

PN400272

G

A

exonic

Unknown

nonsynonymous SNV

NM_014141

c.G2038A

p.E680K

24.7