Variant Results

C

T

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C4151T
c.C4247T
c.C4451T

p.T1384I
p.T1416I
p.T1484I

20.9

-

Leblond2019 E

DOCK8

2-1120-003

chr9:
275610-275610

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK8

M16269

chr9:
371468-371468

G

A

exonic

Maternal, Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G1705A
c.G1705A
c.G1909A

p.A569T
p.A569T
p.A637T

29.3

1.651E-5

Guo2018 T
Wang2016 T

DOCK8

M8683

chr9:
317062-317062

G

A

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G557A
c.G557A
c.G761A

p.R186H
p.R186H
p.R254H

17.69

Wang2016 T

DOCK8

M20615

chr9:
311973-311973

A

G

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A344G
c.A344G
c.A548G

p.N115S
p.N115S
p.N183S

5.551

1.664E-5

Wang2016 T

DOCK8

M08458

chr9:
339101-339101

T

C

splicing

De novo

splicing

25.2

-

Guo2018 T
Stessman2017 T
Wang2016 T

DOCK8

M12330

chr9:
407023-407023

C

T

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C3184T
c.C3280T
c.C3484T

p.L1062F
p.L1094F
p.L1162F

23.0

1.648E-5

Guo2018 T
Wang2016 T

DOCK8

M03413

chr9:
429744-429744

G

A/G

exonic

Maternal

-

Guo2018 T

DOCK8

M03963

chr9:
372197-372197

C

C/G

exonic

Maternal

-

Guo2018 T

DOCK8

M21624

chr9:
463635-463635

C

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C5887G
c.C5983G
c.C6187G

p.R1963G
p.R1995G
p.R2063G

17.88

4.173E-5

Guo2018 T

DOCK8

M20274

chr9:
328170-328170

A

G

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A839G
c.A839G
c.A1043G

p.K280R
p.K280R
p.K348R

14.1

9.786E-6

Guo2018 T
Wang2016 T

DOCK8

M13373

chr9:
289577-289577

C

C/T

exonic

Maternal

-

Guo2018 T

DOCK8

M17545

chr9:
379893-379893

G

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G2359A
c.G2359A
c.G2563A

p.V787I
p.V787I
p.V855I

18.16

1.655E-5

Guo2018 T
Wang2016 T

DOCK8

M19786

chr9:
414800-414800

G

T

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G3249T
c.G3345T
c.G3549T

p.R1083S
p.R1115S
p.R1183S

10.62

-

Guo2018 T
Guo2018 T

DOCK8

M01503

chr9:
312024-312024

A

A/G

exonic

Maternal

-

Guo2018 T

DOCK8

M08545

chr9:
304619-304619

C

C/G

exonic

Maternal

-

Guo2018 T

DOCK8

M15027

chr9:
446455-446455

A

G

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A5366G
c.A5462G
c.A5666G

p.N1789S
p.N1821S
p.N1889S

23.4

8.236E-6

Guo2018 T
Wang2016 T

DOCK8

M20553

chr9:
446435-446439

ATACT

A

exonic

Maternal

frameshift deletion

NM_001190458
NM_001193536
NM_203447

c.5347_5350del
c.5443_5446del
c.5647_5650del

p.Y1783fs
p.Y1815fs
p.Y1883fs

-

Guo2018 T
Wang2016 T

DOCK8

M10003

chr9:
405035-405035

A

G

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A3052G
c.A3148G
c.A3352G

p.T1018A
p.T1050A
p.T1118A

9.726

-

Guo2018 T
Wang2016 T

DOCK8

PN400590

C

T

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C4151T
c.C4247T
c.C4451T

p.T1384I
p.T1416I
p.T1484I

20.9

-

Leblond2019 E

DOCK8

M19547

chr9:
428446-428446

A

G

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A4123G
c.A4219G
c.A4423G

p.T1375A
p.T1407A
p.T1475A

9.742

8.243E-6

Guo2018 T
Wang2016 T

DOCK8

M15093

Complex Event; expand row to view variants

Maternal

frameshift deletion, frameshift substitution

NM_001190458
NM_001193536
NM_203447
NM_001190458
NM_001193536
NM_203447

c.877_878del
c.877_878del
c.1081_1082del
c.876_878A
c.876_878A
c.1080_1082A

p.C293fs
p.C293fs
p.C361fs
N/A
N/A
N/A

-

Guo2018 T
Wang2016 T

DOCK8

PN400488

C

T

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C4151T
c.C4247T
c.C4451T

p.T1384I
p.T1416I
p.T1484I

20.9

-

Leblond2019 E

DOCK8

AU054304

chr9:
242809-242810

TG

T

intronic

De novo

-

Yuen2017 G

DOCK8

5-0073-003

chr9:
339258-339258

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK8

M23812

chr9:
429850-429850

C

A

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C4322A
c.C4418A
c.C4622A

p.T1441N
p.T1473N
p.T1541N

14.38

-

Guo2018 T
Wang2016 T

DOCK8

PN400119

C

T

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C4151T
c.C4247T
c.C4451T

p.T1384I
p.T1416I
p.T1484I

20.9

-

Leblond2019 E

DOCK8

HN0038.p1

chr9:
414900-414900

C

G

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C3349G
c.C3445G
c.C3649G

p.P1117A
p.P1149A
p.P1217A

24.4

-

Guo2018 T

DOCK8

GX0152.p1

chr9:
414888-414888

G

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G3337A
c.G3433A
c.G3637A

p.A1113T
p.A1145T
p.A1213T

16.77

-

Guo2018 T

DOCK8

GX0200.p1

chr9:
439381-439381

T

G

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.T4916G
c.T5012G
c.T5216G

p.F1639C
p.F1671C
p.F1739C

23.0

-

Guo2018 T

DOCK8

GX0415.p1

chr9:
439308-439308

G

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G4843A
c.G4939A
c.G5143A

p.D1615N
p.D1647N
p.D1715N

26.9

-

Guo2018 T

DOCK8

HN0117.p1

chr9:
334271-334271

G

C

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G968C
c.G968C
c.G1172C

p.C323S
p.C323S
p.C391S

29.9

-

Guo2018 T

DOCK8

M30029

chr9:
328050-328050

A

G

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A719G
c.A719G
c.A923G

p.N240S
p.N240S
p.N308S

25.7

Guo2018 T

DOCK8

GX0070.p1

chr9:
404978-404978

A

C

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A2995C
c.A3091C
c.A3295C

p.I999L
p.I1031L
p.I1099L

19.02

-

Guo2018 T

DOCK8

GX0131.p1

chr9:
382573-382573

C

T

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C2462T
c.C2462T
c.C2666T

p.A821V
p.A821V
p.A889V

13.8

3.315E-5

Guo2018 T

DOCK8

M31830

chr9:
463687-463687

G

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G5939A
c.G6035A
c.G6239A

p.R1980K
p.R2012K
p.R2080K

21.4

3.358E-5

Guo2018 T

DOCK8

GX0415.p1

chr9:
463535-463535

G

C

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G5787C
c.G5883C
c.G6087C

p.E1929D
p.E1961D
p.E2029D

16.22

7.427E-5

Guo2018 T

DOCK8

210-18207-301

chr9:
372237-372237

C

T

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C1856T
c.C1856T
c.C2060T

p.P619L
p.P619L
p.P687L

24.2

4.119E-5

Stessman2017 T

DOCK8

M8464

chr9:
317064-317064

C

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C559A
c.C559A
c.C763A

p.P187T
p.P187T
p.P255T

12.23

Wang2016 T

DOCK8

2-1342-003

chr9:
344964-344964

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DOCK8

M12507

chr9:
336692-336692

C

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C1192A
c.C1192A
c.C1396A

p.L398M
p.L398M
p.L466M

5.739

-

Guo2018 T
Wang2016 T

DOCK8

M8784

chr9:
443440-443440

A

C

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A5204C
c.A5300C
c.A5504C

p.Q1735P
p.Q1767P
p.Q1835P

23.4

-

Wang2016 T

DOCK8

Cukier2014:7590

chr9:
312134-312134

G

A

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G505A
c.G505A
c.G709A

p.E169K
p.E169K
p.E237K

17.97

0.0288

Cukier2014 E

DOCK8

M26940

chr9:
396857-396857

C

T

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C2743T
c.C2839T
c.C3043T

p.R915C
p.R947C
p.R1015C

33.0

4.119E-5

Guo2018 T

DOCK8

M15064

chr9:
433920-433920

G

C

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G4531C
c.G4627C
c.G4831C

p.V1511L
p.V1543L
p.V1611L

32.0

Guo2018 T
Wang2016 T

DOCK8

M26789

chr9:
332450-332450

C

T

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C893T
c.C893T
c.C1097T

p.T298M
p.T298M
p.T366M

1.006

Guo2018 T
Wang2016 T

DOCK8

M15264

chr9:
334282-334282

G

C

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G979C
c.G979C
c.G1183C

p.G327R
p.G327R
p.G395R

33.0

-

Guo2018 T
Wang2016 T

DOCK8

M12406

chr9:
463555-463555

C

T

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C5807T
c.C5903T
c.C6107T

p.T1936M
p.T1968M
p.T2036M

17.95

6.604E-5

Guo2018 T
Wang2016 T

DOCK8

1-0303-003

chr9:
327907-327907

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK8

M10006

chr9:
404946-404946

C

T

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C2963T
c.C3059T
c.C3263T

p.T988M
p.T1020M
p.T1088M

11.94

Guo2018 T
Wang2016 T

DOCK8

M20270

chr9:
443497-443497

C

T

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C5261T
c.C5357T
c.C5561T

p.T1754I
p.T1786I
p.T1854I

12.04

-

Guo2018 T
Wang2016 T

DOCK8

2-0296-004

chr9:
447385-447385

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK8

M19761

chr9:
433947-433947

C

G

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C4558G
c.C4654G
c.C4858G

p.P1520A
p.P1552A
p.P1620A

33.0

-

Guo2018 T
Wang2016 T

DOCK8

M15242

chr9:
286635-286635

G

C

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G127C
c.G127C
c.G331C

p.G43R
p.G43R
p.G111R

17.73

-

Guo2018 T
Wang2016 T

DOCK8

M8644

chr9:
377154-377154

G

C

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G2179C
c.G2179C
c.G2383C

p.V727L
p.V727L
p.V795L

12.68

Wang2016 T

DOCK8

1-1024-003

chr9:
271734-271734

G

C

intronic

De novo

-

Trost2022 G
Zhou2022 GE

DOCK8

M12312

chr9:
368064-368064

C

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C1522G
c.C1522G
c.C1726G

p.L508V
p.L508V
p.L576V

14.29

2.472E-5

Guo2018 T
Wang2016 T

DOCK8

SP0047329

chr9:
380055-380055

A

G

intronic

De novo

-

Fu2022 E

DOCK8

M21595

chr9:
368064-368064

C

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C1522G
c.C1522G
c.C1726G

p.L508V
p.L508V
p.L576V

14.29

2.472E-5

Guo2018 T
Wang2016 T

DOCK8

SP0018345

chr9:
370229-370229

G

C

splicing

De novo

splicing

26.1

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

DOCK8

1-0197-003

chr9:
371827-371827

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK8

214-17057-1

chr9:
372187-372187

G

T

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G1806T
c.G1806T
c.G2010T

p.W602C
p.W602C
p.W670C

21.8

-

Stessman2017 T

DOCK8

AU070703

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

DOCK8

M32128

chr9:
328163-328163

G

A

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G832A
c.G832A
c.G1036A

p.V278I
p.V278I
p.V346I

26.1

2.0E-4

Guo2018 T

DOCK8

HN0081.p1

chr9:
312024-312024

A

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A395G
c.A395G
c.A599G

p.D132G
p.D132G
p.D200G

19.54

1.651E-5

Guo2018 T

DOCK8

M31875

chr9:
404995-404995

G

C

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G3012C
c.G3108C
c.G3312C

p.E1004D
p.E1036D
p.E1104D

22.1

8.0E-4

Guo2018 T

DOCK8

iHART1309

chr9:
332417-332417

A

G

exonic

De novo

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A860G
c.A860G
c.A1064G

p.Q287R
p.Q287R
p.Q355R

22.9

-

Ruzzo2019 G

DOCK8

GX0476.p1

chr9:
328163-328163

G

A

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G832A
c.G832A
c.G1036A

p.V278I
p.V278I
p.V346I

26.1

2.0E-4

Guo2018 T

DOCK8

2-0238-003

chr9:
293107-293107

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK8

M30585

chr9:
396846-396846

G

A

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G2732A
c.G2828A
c.G3032A

p.R911H
p.R943H
p.R1011H

36.0

Guo2018 T

DOCK8

M31875

chr9:
396837-396837

G

A

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G2723A
c.G2819A
c.G3023A

p.R908Q
p.R940Q
p.R1008Q

37.0

8.0E-4

Guo2018 T

DOCK8

GX0500.p1

chr9:
404990-404990

C

A

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C3007A
c.C3103A
c.C3307A

p.H1003N
p.H1035N
p.H1103N

34.0

-

Guo2018 T

DOCK8

HN0002.p1

chr9:
311973-311973

A

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A344G
c.A344G
c.A548G

p.N115S
p.N115S
p.N183S

5.551

1.664E-5

Guo2018 T

DOCK8

GX0042.p1

chr9:
404990-404990

C

A

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C3007A
c.C3103A
c.C3307A

p.H1003N
p.H1035N
p.H1103N

34.0

-

Guo2018 T

DOCK8

GX0393.p1

chr9:
304652-304652

C

T

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C272T
c.C272T
c.C476T

p.P91L
p.P91L
p.P159L

14.2

5.776E-5

Guo2018 T

DOCK8

M31956

chr9:
463635-463635

C

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C5887G
c.C5983G
c.C6187G

p.R1963G
p.R1995G
p.R2063G

17.88

4.173E-5

Guo2018 T

DOCK8

HN0128.p1

chr9:
407057-407057

C

A

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C3218A
c.C3314A
c.C3518A

p.A1073D
p.A1105D
p.A1173D

11.01

-

Guo2018 T

DOCK8

2-1577-003

chr9:
398262-398262

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK8

GX0437.p1

chr9:
405056-405056

C

T

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C3073T
c.C3169T
c.C3373T

p.P1025S
p.P1057S
p.P1125S

14.09

9.12E-5

Guo2018 T

DOCK8

HN0001.p1

chr9:
443497-443497

C

T

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C5261T
c.C5357T
c.C5561T

p.T1754I
p.T1786I
p.T1854I

12.04

-

Guo2018 T

DOCK8

M32056

chr9:
420958-420958

A

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A3733G
c.A3829G
c.A4033G

p.S1245G
p.S1277G
p.S1345G

13.21

-

Guo2018 T

DOCK8

M13451

chr9:
304594-304594

C

G

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C214G
c.C214G
c.C418G

p.P72A
p.P72A
p.P140A

3.001

-

Wang2016 T

DOCK8

M27798

chr9:
325717-325717

G

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G670A
c.G670A
c.G874A

p.D224N
p.D224N
p.D292N

35.0

Wang2016 T

DOCK8

M20274

chr9:
463535-463535

G

C

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G5787C
c.G5883C
c.G6087C

p.E1929D
p.E1961D
p.E2029D

16.22

7.427E-5

Guo2018 T
Wang2016 T

DOCK8

M23076

chr9:
407069-407069

G

T

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G3230T
c.G3326T
c.G3530T

p.G1077V
p.G1109V
p.G1177V

15.56

8.272E-6

Guo2018 T
Wang2016 T

DOCK8

SP0048132

chr9:
399218-399218

C

T

exonic

De novo

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C2893T
c.C2989T
c.C3193T

p.R965W
p.R997W
p.R1065W

19.29

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DOCK8

N6A9K

chr9:
386340-386340

C

T

exonic

Unknown

nonsynonymous SNV

NM_001193536
NM_203447

c.C2584T
c.C2788T

p.R862C
p.R930C

16.82

8.261E-6

Stessman2017 T

DOCK8

M26909

chr9:
325717-325717

G

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G670A
c.G670A
c.G874A

p.D224N
p.D224N
p.D292N

35.0

Wang2016 T

DOCK8

M16238

chr9:
377154-377154

G

C

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G2179C
c.G2179C
c.G2383C

p.V727L
p.V727L
p.V795L

12.68

Wang2016 T

DOCK8

DEASD_0074_001

chr9:
452034-452035

GT

G

exonic

De novo

frameshift deletion

NM_001190458
NM_001193536
NM_203447

c.5686delT
c.5782delT
c.5986delT

p.F1896fs
p.F1928fs
p.F1996fs

-

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

DOCK8

M23757

chr9:
432233-432233

T

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.T4394G
c.T4490G
c.T4694G

p.F1465C
p.F1497C
p.F1565C

22.4

-

Guo2018 T
Wang2016 T

DOCK8

REACH000435

chr9:
257684-257684

A

C

intronic

De novo

-

Trost2022 G

DOCK8

R8F8Z

chr9:
428479-428479

C

T

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C4156T
c.C4252T
c.C4456T

p.R1386C
p.R1418C
p.R1486C

20.2

1.651E-5

Stessman2017 T

DOCK8

4-0062-003

chr9:
274735-274736

GT

TC

intronic

De novo

-

Trost2022 G

DOCK8

MSSNG00372-003

chr9:
228310-228310

A

G

intronic

De novo

-

Trost2022 G

DOCK8

M20615

chr9:
428480-428480

G

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G4157A
c.G4253A
c.G4457A

p.R1386H
p.R1418H
p.R1486H

33.0

8.254E-6

Guo2018 T
Wang2016 T

DOCK8

2-1528-003

chr9:
257350-257350

A

T

intronic

De novo

-

Trost2022 G

DOCK8

SP0144096

chr9:
432351-432351

A

C

intronic

De novo

-

Fu2022 E

DOCK8

MSSNG00039-003

chr9:
220344-220344

C

T

intronic

De novo

-

Trost2022 G

DOCK8

SP0106136

chr9:
429651-429651

A

G

intronic

De novo

-

Fu2022 E

DOCK8

7-0449-003

chr9:
222431-222431

T

C

intronic

De novo

-

Trost2022 G

DOCK8

1-0551-003

chr9:
311307-311307

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK8

5-1012-003

chr9:
217798-217798

G

T

intronic

De novo

-

Trost2022 G

DOCK8

PN400186

C

T

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C4151T
c.C4247T
c.C4451T

p.T1384I
p.T1416I
p.T1484I

20.9

-

Leblond2019 E

DOCK8

SP0232863

chr9:
312083-312083

G

A

exonic

De novo

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G454A
c.G454A
c.G658A

p.E152K
p.E152K
p.E220K

19.17

1.649E-5

Trost2022 G

DOCK8

1-1180-003

chr9:
316172-316172

C

T

intronic

De novo

-

Trost2022 G

DOCK8

1-0285-004

chr9:
271127-271127

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK8

3-0142-000

chr9:
310311-310311

C

T

intronic

De novo

-

Trost2022 G

DOCK8

7-0095-003

chr9:
298765-298765

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DOCK8

REACH000435

chr9:
311149-311149

G

C

intronic

De novo

-

Trost2022 G

DOCK8

SJD_55.3

chr9:
290699-290699

C

A

intronic

De novo

-

Trost2022 G

DOCK8

3-0626-000A

chr9:
304266-304266

T

C

intronic

De novo

-

Trost2022 G

DOCK8

M18444

chr9:
377191-377191

T

G

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.T2216G
c.T2216G
c.T2420G

p.M739R
p.M739R
p.M807R

17.13

-

Guo2018 T
Wang2016 T

DOCK8

14642.p1

chr9:
256680-256680

C

G

intronic

De novo

-

Turner2016 G

DOCK8

REACH000173

chr9:
276738-276738

A

G

intronic

De novo

-

Trost2022 G

DOCK8

M17511

chr9:
414871-414871

T

G

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.T3320G
c.T3416G
c.T3620G

p.V1107G
p.V1139G
p.V1207G

17.69

-

Guo2018 T
Wang2016 T

DOCK8

SP0018345

chr9:
368183-368183

C

G

intronic

De novo

9.906

8.256E-6

Feliciano2019 E
Trost2022 G
Zhou2022 GE

DOCK8

3-0871-000

chr9:
281422-281422

G

A

intronic

De novo

-

Trost2022 G

DOCK8

REACH000644

chr9:
396959-396959

T

G

intronic

De novo

-

Trost2022 G

DOCK8

MT_74.3

chr9:
400710-400710

C

T

intronic

De novo

-

Trost2022 G

DOCK8

7-0469-003

chr9:
379013-379014

GT

G

intronic

De novo

-

Trost2022 G

DOCK8

REACH000435

chr9:
392537-392537

T

C

intronic

De novo

-

Trost2022 G

DOCK8

HN0065.p1

chr9:
399219-399219

G

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G2894A
c.G2990A
c.G3194A

p.R965Q
p.R997Q
p.R1065Q

33.0

4.138E-5

Guo2018 T

DOCK8

REACH000435

chr9:
344922-344922

G

C

intronic

De novo

-

Trost2022 G

DOCK8

MT_181.4

chr9:
358805-358805

C

T

intronic

De novo

-

Trost2022 G

DOCK8

1-1126-003

chr9:
331482-331482

T

G

intronic

De novo

-

Trost2022 G

DOCK8

HN0019.p1

chr9:
441350-441350

G

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G4988A
c.G5084A
c.G5288A

p.R1663Q
p.R1695Q
p.R1763Q

36.0

-

Guo2018 T

DOCK8

REACH000681

chr9:
336047-336047

A

G

intronic

De novo

-

Trost2022 G

DOCK8

M13297

chr9:
368088-368088

A

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A1546G
c.A1546G
c.A1750G

p.I516V
p.I516V
p.I584V

4.922

4.12E-5

Guo2018 T
Wang2016 T

DOCK8

M18390

chr9:
396857-396857

C

T

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C2743T
c.C2839T
c.C3043T

p.R915C
p.R947C
p.R1015C

33.0

4.119E-5

Guo2018 T
Wang2016 T

DOCK8

M23651

chr9:
376270-376270

A

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A1966G
c.A1966G
c.A2170G

p.I656V
p.I656V
p.I724V

1.532

-

Guo2018 T
Wang2016 T

DOCK8

2-1486-003

chr9:
343069-343069

T

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DOCK8

MSSNG00043-003

chr9:
412362-412362

G

A

intronic

De novo

-

Trost2022 G

DOCK8

MSSNG00003-004

chr9:
436951-436951

G

A

intronic

De novo

-

Trost2022 G

DOCK8

M10060

chr9:
428390-428390

G

A

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G4067A
c.G4163A
c.G4367A

p.S1356N
p.S1388N
p.S1456N

10.91

8.241E-6

Guo2018 T
Wang2016 T

DOCK8

1-0750-003

chr9:
400893-400893

C

T

intronic

De novo

-

Trost2022 G

DOCK8

M15166

chr9:
446533-446533

G

A

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G5444A
c.G5540A
c.G5744A

p.R1815K
p.R1847K
p.R1915K

21.1

-

Guo2018 T
Wang2016 T

DOCK8

MSSNG00341-004

chr9:
400971-400971

C

T

intronic

De novo

-

Trost2022 G

DOCK8

M19612

chr9:
420449-420449

A

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A3589G
c.A3685G
c.A3889G

p.M1197V
p.M1229V
p.M1297V

12.38

1.648E-5

Guo2018 T
Wang2016 T

DOCK8

1-0750-003

chr9:
400879-400879

C

A

intronic

De novo

-

Trost2022 G

DOCK8

M19761

chr9:
426926-426926

A

G

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A3983G
c.A4079G
c.A4283G

p.N1328S
p.N1360S
p.N1428S

17.35

2.0E-4

Guo2018 T
Wang2016 T

DOCK8

MT_40.3

chr9:
400887-400887

C

T

intronic

De novo

-

Trost2022 G

DOCK8

217-14304-3540

chr9:
414814-414814

C

G

exonic

Inherited

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C3263G
c.C3359G
c.C3563G

p.A1088G
p.A1120G
p.A1188G

34.0

Stessman2017 T

DOCK8

M15210

chr9:
446559-446559

G

A

exonic

Maternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G5470A
c.G5566A
c.G5770A

p.A1824T
p.A1856T
p.A1924T

21.9

-

Guo2018 T
Wang2016 T

DOCK8

GX0368.p1

chr9:
441350-441350

G

A

exonic

Unknown

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.G4988A
c.G5084A
c.G5288A

p.R1663Q
p.R1695Q
p.R1763Q

36.0

-

Guo2018 T

DOCK8

09C79974

chr9:
449801-449801

T

C

exonic

De novo

synonymous SNV

NM_001190458
NM_001193536
NM_203447

c.T5535C
c.T5631C
c.T5835C

p.I1845I
p.I1877I
p.I1945I

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DOCK8

M08784

chr9:
443440-443440

A

C

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.A5204C
c.A5300C
c.A5504C

p.Q1735P
p.Q1767P
p.Q1835P

23.4

-

Guo2018 T

DOCK8

M17677

chr9:
432233-432233

T

G/T

exonic

Paternal

-

Guo2018 T

DOCK8

M03413

chr9:
449883-449883

C

C/G

exonic

Paternal

-

Guo2018 T

DOCK8

M01773

chr9:
418203-418203

C

C/T

exonic

Paternal

-

Guo2018 T

DOCK8

M08464

chr9:
317064-317064

C

A

exonic

Paternal

nonsynonymous SNV

NM_001190458
NM_001193536
NM_203447

c.C559A
c.C559A
c.C763A

p.P187T
p.P187T
p.P255T

12.23