Variant Results

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

chr10:
128998711-128998711

Leblond2019 E

DOCK1

7-0249-004

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK1

PN400385

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

chr10:
129224826-129224826

Leblond2019 E

DOCK1

1-0208-003

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK1

2-1277-003

chr10:
128966235-128966235

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK1

5-0064-003

chr10:
128893812-128893814

GCT

G

intronic

De novo

-

Yuen2017 G

DOCK1

1-0162-004

chr10:
129121943-129121943

C

T

intronic

De novo

-

Yuen2017 G

DOCK1

AU079104

chr10:
129067675-129067675

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK1

1-0609-003

chr10:
129301221-129301221

C

T

intergenic

De novo

-

Yuen2017 G

DOCK1

G01_GEA472HI

chr10:
128829982-128829982

C

A

exonic

De novo

nonsynonymous SNV

NM_001290223
NM_001380

c.C1693A
c.C1630A

p.L565M
p.L544M

8.923

-

Fu2022 E

DOCK1

1-0010-003

chr10:
129241164-129241164

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK1

SA1807008_31

chr10:
128824757-128824757

A

G

intronic

De novo

-

Fu2022 E

DOCK1

161_18au

chr10:
129142004-129142004

T

G

exonic

De novo

nonsynonymous SNV

NM_001290223
NM_001380

c.T3218G
c.T3155G

p.L1073R
p.L1052R

14.17

-

Fu2022 E

DOCK1

2-1292-003

chr10:
129136026-129136026

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK1

AU3768302

chr10:
129294770-129294770

A

G

intergenic

De novo

-

Yuen2017 G

DOCK1

2-0198-003

chr10:
129011530-129011530

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK1

1-0496-003

chr10:
129085131-129085131

T

G

intronic

De novo

-

Yuen2017 G

DOCK1

5-5025-003

chr10:
128607549-128607549

C

A

intronic

De novo

-

Trost2022 G

DOCK1

SSC08664

chr10:
128776178-128776178

T

G

intronic

De novo

-

Trost2022 G

DOCK1

1-0700-005A

chr10:
128607549-128607549

C

A

intronic

De novo

-

Trost2022 G

DOCK1

1-1161-003

chr10:
128607549-128607549

C

G

intronic

De novo

-

Trost2022 G

DOCK1

4-0062-003

chr10:
128604660-128604661

GG

AT

intronic

De novo

-

Trost2022 G

DOCK1

4-0073-003

chr10:
128604660-128604661

GG

AT

intronic

De novo

-

Trost2022 G

DOCK1

AU3911301

chr10:
129017121-129017121

G

C

intronic

De novo

-

Yuen2017 G

DOCK1

F2613-1

chr10:
129224199-129224199

C

T

exonic

De novo

nonsynonymous SNV

NM_001290223
NM_001380

c.C4838T
c.C4775T

p.P1613L
p.P1592L

23.6

8.28E-6

Montenegro2019 E

DOCK1

1-1160-003

chr10:
128593007-128593007

C

T

upstream

De novo

-

Trost2022 G

DOCK1

PN400332

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

chr10:
128595427-128595427

Leblond2019 E

DOCK1

1-1015-003A

G

A

intronic

De novo

-

Trost2022 G

DOCK1

7-0235-003

chr10:
128881210-128881210

G

GGCCT

intronic

De novo

-

Trost2022 G

DOCK1

3-0163-000

chr10:
128881387-128881387

T

C

intronic

De novo

-

Trost2022 G

DOCK1

MSSNG00083-003

chr10:
128855163-128855163

A

C

intronic

De novo

-

Trost2022 G

DOCK1

3-0708-000

chr10:
128857335-128857335

A

G

intronic

De novo

-

Trost2022 G

DOCK1

MSSNG00329-003

chr10:
128828821-128828821

T

C

intronic

De novo

-

Trost2022 G

DOCK1

SP0198615

chr10:
128830041-128830041

A

G

intronic

De novo

-

Trost2022 G

DOCK1

H3E8D_01

chr10:
128787778-128787778

A

T

intronic

De novo

-

Trost2022 G

DOCK1

1-1217-003

chr10:
128804722-128804722

C

G

intronic

De novo

-

Trost2022 G

DOCK1

REACH000529

chr10:
128982830-128982830

T

A

intronic

De novo

-

Trost2022 G
Trost2022 G

DOCK1

MSSNG00057-003

chr10:
128987332-128987332

A

G

intronic

De novo

-

Trost2022 G
Trost2022 G

DOCK1

7-0410-003

chr10:
128922537-128922537

T

G

intronic

De novo

-

Trost2022 G

DOCK1

13739.p1

chr10:
128776178-128776178

T

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

DOCK1

MSSNG00439-004

chr10:
128916109-128916109

C

T

intronic

De novo

-

Trost2022 G

DOCK1

14565.p1

chr10:
129242541-129242541

C

T

exonic

De novo

nonsynonymous SNV

NM_001290223
NM_001380

c.C5411T
c.C5348T

p.S1804L
p.S1783L

14.23

-

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

DOCK1

3-0180-000

chr10:
128921848-128921848

G

T

intronic

De novo

-

Trost2022 G

DOCK1

5-0140-003

chr10:
128981648-128981648

G

A

intronic

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G

DOCK1

PN400517

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

chr10:
128899366-128899366

Leblond2019 E

DOCK1

5-0064-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Trost2022 G

DOCK1

AU2571301

G

A

intronic

De novo

-

Trost2022 G

DOCK1

1-0333-003

chr10:
129099723-129099723

G

A

intronic

De novo

-

Trost2022 G

DOCK1

MSSNG00032-004

chr10:
129134966-129134966

G

A

intronic

De novo

-

Trost2022 G

DOCK1

1-0111-003

chr10:
129082405-129082405

T

A

intronic

De novo

-

Trost2022 G

DOCK1

AU4376301

chr10:
129342848-129342848

A

G

intergenic

De novo

-

Yuen2017 G

DOCK1

3-0819-000

chr10:
129085136-129085136

T

G

intronic

De novo

-

Trost2022 G

DOCK1

PN400114

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

chr10:
129043964-129043964

Leblond2019 E

DOCK1

7-0402-003

A

C

intronic

De novo

-

Trost2022 G

DOCK1

3-0089-000

chr10:
129065460-129065460

A

G

intronic

De novo

-

Trost2022 G

DOCK1

REACH000292

chr10:
128989534-128989534

C

T

intronic

De novo

-

Trost2022 G
Trost2022 G

DOCK1

AU075703

chr10:
129125170-129125170

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK1

10-1127-003A

chr10:
129020372-129020372

T

A

intronic

De novo

-

Trost2022 G

DOCK1

3-0482-000

chr10:
129272401-129272401

T

C

intergenic

De novo

-

Yuen2017 G

DOCK1

REACH000713

chr10:
129195441-129195441

G

C

intronic

De novo

-

Trost2022 G

DOCK1

7-0322-003

chr10:
129197887-129197887

A

G

intronic

De novo

-

Trost2022 G

DOCK1

3-0485-000A

chr10:
129195264-129195264

A

G

intronic

De novo

-

Trost2022 G

DOCK1

PN400292

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

chr10:
129195264-129195264

Leblond2019 E

DOCK1

MSSNG00011-003

A

G

intronic

De novo

-

Trost2022 G

DOCK1

1-0403-004

chr10:
129190289-129190292

CACA

GGCC

intronic

De novo

-

Trost2022 G

DOCK1

4-0064-004

chr10:
129190307-129190310

GAAC

TTTTTTTTT

intronic

De novo

-

Trost2022 G

DOCK1

1-0644-003

chr10:
129154575-129154575

C

T

intronic

De novo

-

Trost2022 G

DOCK1

REACH000322

chr10:
129185320-129185320

G

A

intronic

De novo

-

Trost2022 G

DOCK1

3-0775-000

G

A

intronic

De novo

-

Trost2022 G

DOCK1

MSSNG00361-003

G

A

intronic

De novo

-

Trost2022 G

DOCK1

1-0447-003

G

A

intronic

De novo

-

Trost2022 G

DOCK1

1-0923-003

chr10:
129217327-129217327

G

A

intronic

De novo

-

Trost2022 G

DOCK1

MSSNG00333-003

G

A

intronic

De novo

-

Trost2022 G

DOCK1

MSSNG00173-003

chr10:
129225454-129225454

G

T

intronic

De novo

-

Trost2022 G

DOCK1

7-0225-003

chr10:
129198122-129198122

G

A

intronic

De novo

-

Trost2022 G

DOCK1

MT_35.3

chr10:
129216214-129216214

C

A

intronic

De novo

-

Trost2022 G

DOCK1

4-0037-003

chr10:
129243682-129243682

G

A

intronic

De novo

-

Trost2022 G

DOCK1

2-0145-004

chr10:
129165716-129165718

ACT

A

intronic

De novo

-

Yuen2017 G

DOCK1

5-0009-003

chr10:
129245657-129245657

G

A

splicing

De novo

splicing

20.7

-

Trost2022 G

DOCK1

12087.p1

chr10:
129182985-129182985

A

C

intronic

Mosaic

-

Dou2017 E

DOCK1

REACH000735

chr10:
129229564-129229564

A

G

intronic

De novo

-

Trost2022 G

DOCK1

1-0630-003

chr10:
129231936-129231936

A

G

intronic

De novo

-

Trost2022 G

DOCK1

PN400213

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

Leblond2019 E

DOCK1

PN400518

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

chr10:
129218453-129218453

Leblond2019 E

DOCK1

2-1633-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

DOCK1

2-1338-003

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK1

PN400128

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5

chr10:
128971212-128971212

Leblond2019 E

DOCK1

2-1402-003

A

G

intronic

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G

DOCK1

2-1335-004

chr10:
129331408-129331408

G

A

intergenic

De novo

-

Yuen2017 G

DOCK1

7-0197-003

chr10:
129261430-129261434

GCCCC

GCCC

intergenic

De novo

-

Yuen2017 G

DOCK1

PN400321

C

T

exonic

Unknown

nonsynonymous SNV

NM_001290223
NM_001380

c.C5330T
c.C5267T

p.S1777L
p.S1756L

22.5