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Results for "DOCK8"

Variant Events: 124

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
DOCK8     M10105chr9:
439258-439258
AGexonicMaternal, Unknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A4793G
c.A4889G
c.A5093G
p.N1598S
p.N1630S
p.N1698S
23.34.118E-5Guo2018 T
Wang2016 T
DOCK8     PN400284chr9:
428474-428474
CTexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C4151T
c.C4247T
c.C4451T
p.T1384I
p.T1416I
p.T1484I
20.9-Leblond2019 E
DOCK8     2-1120-003chr9:
275610-275610
ATintronicDe novo--Yuen2017 G
DOCK8     M16269chr9:
371468-371468
GAexonicMaternal, Unknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G1705A
c.G1705A
c.G1909A
p.A569T
p.A569T
p.A637T
29.31.651E-5Guo2018 T
Wang2016 T
DOCK8     M8683chr9:
317062-317062
GAexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G557A
c.G557A
c.G761A
p.R186H
p.R186H
p.R254H
17.691.0E-4Wang2016 T
DOCK8     M20615chr9:
311973-311973
AGexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A344G
c.A344G
c.A548G
p.N115S
p.N115S
p.N183S
5.5511.664E-5Wang2016 T
DOCK8     M08458chr9:
339101-339101
TCsplicingDe novosplicing25.2-Guo2018 T
Stessman2017 T
Wang2016 T
DOCK8     M12330chr9:
407023-407023
CTexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C3184T
c.C3280T
c.C3484T
p.L1062F
p.L1094F
p.L1162F
23.01.648E-5Guo2018 T
Wang2016 T
DOCK8     M03413chr9:
429744-429744
GA/GexonicMaternal--Guo2018 T
DOCK8     M03963chr9:
372197-372197
CC/GexonicMaternal--Guo2018 T
DOCK8     M21624chr9:
463635-463635
CGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C5887G
c.C5983G
c.C6187G
p.R1963G
p.R1995G
p.R2063G
17.884.173E-5Guo2018 T
DOCK8     M20274chr9:
328170-328170
AGexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A839G
c.A839G
c.A1043G
p.K280R
p.K280R
p.K348R
14.19.786E-6Guo2018 T
Wang2016 T
DOCK8     M13373chr9:
289577-289577
CC/TexonicMaternal--Guo2018 T
DOCK8     M17545chr9:
379893-379893
GAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G2359A
c.G2359A
c.G2563A
p.V787I
p.V787I
p.V855I
18.161.655E-5Guo2018 T
Wang2016 T
DOCK8     M19786chr9:
414800-414800
GTexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G3249T
c.G3345T
c.G3549T
p.R1083S
p.R1115S
p.R1183S
10.62-Guo2018 T
Guo2018 T
DOCK8     M01503chr9:
312024-312024
AA/GexonicMaternal--Guo2018 T
DOCK8     M08545chr9:
304619-304619
CC/GexonicMaternal--Guo2018 T
DOCK8     M15027chr9:
446455-446455
AGexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A5366G
c.A5462G
c.A5666G
p.N1789S
p.N1821S
p.N1889S
23.48.236E-6Guo2018 T
Wang2016 T
DOCK8     M20553chr9:
446435-446439
ATACTAexonicMaternalframeshift deletionNM_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     M10003chr9:
405035-405035
AGexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A3052G
c.A3148G
c.A3352G
p.T1018A
p.T1050A
p.T1118A
9.726-Guo2018 T
Wang2016 T
DOCK8     PN400590chr9:
428474-428474
CTexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C4151T
c.C4247T
c.C4451T
p.T1384I
p.T1416I
p.T1484I
20.9-Leblond2019 E
DOCK8     M19547chr9:
428446-428446
AGexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A4123G
c.A4219G
c.A4423G
p.T1375A
p.T1407A
p.T1475A
9.7428.243E-6Guo2018 T
Wang2016 T
DOCK8     M15093 Complex Event; expand row to view variants  Maternalframeshift deletion, frameshift substitutionNM_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     PN400488chr9:
428474-428474
CTexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C4151T
c.C4247T
c.C4451T
p.T1384I
p.T1416I
p.T1484I
20.9-Leblond2019 E
DOCK8     AU054304chr9:
242809-242810
TGTintronicDe novo--Yuen2017 G
DOCK8     5-0073-003chr9:
339258-339258
GTintronicDe novo--Yuen2017 G
DOCK8     M23812chr9:
429850-429850
CAexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C4322A
c.C4418A
c.C4622A
p.T1441N
p.T1473N
p.T1541N
14.38-Guo2018 T
Wang2016 T
DOCK8     PN400119chr9:
428474-428474
CTexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C4151T
c.C4247T
c.C4451T
p.T1384I
p.T1416I
p.T1484I
20.9-Leblond2019 E
DOCK8     HN0038.p1chr9:
414900-414900
CGexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C3349G
c.C3445G
c.C3649G
p.P1117A
p.P1149A
p.P1217A
24.4-Guo2018 T
DOCK8     GX0152.p1chr9:
414888-414888
GAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G3337A
c.G3433A
c.G3637A
p.A1113T
p.A1145T
p.A1213T
16.77-Guo2018 T
DOCK8     GX0200.p1chr9:
439381-439381
TGexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.T4916G
c.T5012G
c.T5216G
p.F1639C
p.F1671C
p.F1739C
23.0-Guo2018 T
DOCK8     GX0415.p1chr9:
439308-439308
GAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G4843A
c.G4939A
c.G5143A
p.D1615N
p.D1647N
p.D1715N
26.9-Guo2018 T
DOCK8     HN0117.p1chr9:
334271-334271
GCexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G968C
c.G968C
c.G1172C
p.C323S
p.C323S
p.C391S
29.9-Guo2018 T
DOCK8     M30029chr9:
328050-328050
AGexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A719G
c.A719G
c.A923G
p.N240S
p.N240S
p.N308S
25.78.237E-6Guo2018 T
DOCK8     GX0070.p1chr9:
404978-404978
ACexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A2995C
c.A3091C
c.A3295C
p.I999L
p.I1031L
p.I1099L
19.02-Guo2018 T
DOCK8     GX0131.p1chr9:
382573-382573
CTexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C2462T
c.C2462T
c.C2666T
p.A821V
p.A821V
p.A889V
13.83.315E-5Guo2018 T
DOCK8     M31830chr9:
463687-463687
GAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G5939A
c.G6035A
c.G6239A
p.R1980K
p.R2012K
p.R2080K
21.43.358E-5Guo2018 T
DOCK8     GX0415.p1chr9:
463535-463535
GCexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G5787C
c.G5883C
c.G6087C
p.E1929D
p.E1961D
p.E2029D
16.227.427E-5Guo2018 T
DOCK8     210-18207-301chr9:
372237-372237
CTexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C1856T
c.C1856T
c.C2060T
p.P619L
p.P619L
p.P687L
24.24.119E-5Stessman2017 T
DOCK8     M8464chr9:
317064-317064
CAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C559A
c.C559A
c.C763A
p.P187T
p.P187T
p.P255T
12.231.0E-4Wang2016 T
DOCK8     2-1342-003chr9:
344964-344964
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DOCK8     M12507chr9:
336692-336692
CAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C1192A
c.C1192A
c.C1396A
p.L398M
p.L398M
p.L466M
5.739-Guo2018 T
Wang2016 T
DOCK8     M8784chr9:
443440-443440
ACexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A5204C
c.A5300C
c.A5504C
p.Q1735P
p.Q1767P
p.Q1835P
23.4-Wang2016 T
DOCK8     Cukier2014:7590chr9:
312134-312134
GAexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G505A
c.G505A
c.G709A
p.E169K
p.E169K
p.E237K
17.970.0288Cukier2014 E
DOCK8     M26940chr9:
396857-396857
CTexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C2743T
c.C2839T
c.C3043T
p.R915C
p.R947C
p.R1015C
33.04.119E-5Guo2018 T
DOCK8     M15064chr9:
433920-433920
GCexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G4531C
c.G4627C
c.G4831C
p.V1511L
p.V1543L
p.V1611L
32.08.237E-6Guo2018 T
Wang2016 T
DOCK8     M26789chr9:
332450-332450
CTexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C893T
c.C893T
c.C1097T
p.T298M
p.T298M
p.T366M
1.0061.0E-4Guo2018 T
Wang2016 T
DOCK8     M15264chr9:
334282-334282
GCexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G979C
c.G979C
c.G1183C
p.G327R
p.G327R
p.G395R
33.0-Guo2018 T
Wang2016 T
DOCK8     M12406chr9:
463555-463555
CTexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C5807T
c.C5903T
c.C6107T
p.T1936M
p.T1968M
p.T2036M
17.956.604E-5Guo2018 T
Wang2016 T
DOCK8     1-0303-003chr9:
327907-327907
AGintronicDe novo--Yuen2017 G
DOCK8     M10006chr9:
404946-404946
CTexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C2963T
c.C3059T
c.C3263T
p.T988M
p.T1020M
p.T1088M
11.941.0E-4Guo2018 T
Wang2016 T
DOCK8     M20270chr9:
443497-443497
CTexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C5261T
c.C5357T
c.C5561T
p.T1754I
p.T1786I
p.T1854I
12.04-Guo2018 T
Wang2016 T
DOCK8     2-0296-004chr9:
447385-447385
TCintronicDe novo--Yuen2017 G
DOCK8     M19761chr9:
433947-433947
CGexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C4558G
c.C4654G
c.C4858G
p.P1520A
p.P1552A
p.P1620A
33.0-Guo2018 T
Wang2016 T
DOCK8     M15242chr9:
286635-286635
GCexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G127C
c.G127C
c.G331C
p.G43R
p.G43R
p.G111R
17.73-Guo2018 T
Wang2016 T
DOCK8     M8644chr9:
377154-377154
GCexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G2179C
c.G2179C
c.G2383C
p.V727L
p.V727L
p.V795L
12.681.0E-4Wang2016 T
DOCK8     M12312chr9:
368064-368064
CGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C1522G
c.C1522G
c.C1726G
p.L508V
p.L508V
p.L576V
14.292.472E-5Guo2018 T
Wang2016 T
DOCK8     SP0047329chr9:
380055-380055
AGintronicDe novo--Fu2022 E
DOCK8     M21595chr9:
368064-368064
CGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C1522G
c.C1522G
c.C1726G
p.L508V
p.L508V
p.L576V
14.292.472E-5Guo2018 T
Wang2016 T
DOCK8     SP0018345chr9:
370229-370229
GCsplicingDe novosplicing26.1-Feliciano2019 E
Fu2022 E
DOCK8     1-0197-003chr9:
371827-371827
AGintronicDe novo--Yuen2017 G
DOCK8     214-17057-1chr9:
372187-372187
GTexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G1806T
c.G1806T
c.G2010T
p.W602C
p.W602C
p.W670C
21.8-Stessman2017 T
DOCK8     AU070703chr9:
332256-332262
ATTTTTTATTTTTintronicDe novo--Yuen2017 G
DOCK8     M32128chr9:
328163-328163
GAexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G832A
c.G832A
c.G1036A
p.V278I
p.V278I
p.V346I
26.12.0E-4Guo2018 T
DOCK8     HN0081.p1chr9:
312024-312024
AGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A395G
c.A395G
c.A599G
p.D132G
p.D132G
p.D200G
19.541.651E-5Guo2018 T
DOCK8     M31875chr9:
404995-404995
GCexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G3012C
c.G3108C
c.G3312C
p.E1004D
p.E1036D
p.E1104D
22.18.0E-4Guo2018 T
DOCK8     iHART1309chr9:
332417-332417
AGexonicDe novononsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A860G
c.A860G
c.A1064G
p.Q287R
p.Q287R
p.Q355R
22.9-Ruzzo2019 G
DOCK8     GX0476.p1chr9:
328163-328163
GAexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G832A
c.G832A
c.G1036A
p.V278I
p.V278I
p.V346I
26.12.0E-4Guo2018 T
DOCK8     2-0238-003chr9:
293107-293107
CGintronicDe novo--Yuen2017 G
DOCK8     M30585chr9:
396846-396846
GAexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G2732A
c.G2828A
c.G3032A
p.R911H
p.R943H
p.R1011H
36.08.237E-6Guo2018 T
DOCK8     M31875chr9:
396837-396837
GAexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G2723A
c.G2819A
c.G3023A
p.R908Q
p.R940Q
p.R1008Q
37.08.0E-4Guo2018 T
DOCK8     GX0500.p1chr9:
404990-404990
CAexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C3007A
c.C3103A
c.C3307A
p.H1003N
p.H1035N
p.H1103N
34.0-Guo2018 T
DOCK8     HN0002.p1chr9:
311973-311973
AGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A344G
c.A344G
c.A548G
p.N115S
p.N115S
p.N183S
5.5511.664E-5Guo2018 T
DOCK8     GX0042.p1chr9:
404990-404990
CAexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C3007A
c.C3103A
c.C3307A
p.H1003N
p.H1035N
p.H1103N
34.0-Guo2018 T
DOCK8     GX0393.p1chr9:
304652-304652
CTexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C272T
c.C272T
c.C476T
p.P91L
p.P91L
p.P159L
14.25.776E-5Guo2018 T
DOCK8     M31956chr9:
463635-463635
CGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C5887G
c.C5983G
c.C6187G
p.R1963G
p.R1995G
p.R2063G
17.884.173E-5Guo2018 T
DOCK8     HN0128.p1chr9:
407057-407057
CAexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C3218A
c.C3314A
c.C3518A
p.A1073D
p.A1105D
p.A1173D
11.01-Guo2018 T
DOCK8     2-1577-003chr9:
398262-398262
CAintronicDe novo--Yuen2017 G
DOCK8     GX0437.p1chr9:
405056-405056
CTexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C3073T
c.C3169T
c.C3373T
p.P1025S
p.P1057S
p.P1125S
14.099.12E-5Guo2018 T
DOCK8     HN0001.p1chr9:
443497-443497
CTexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C5261T
c.C5357T
c.C5561T
p.T1754I
p.T1786I
p.T1854I
12.04-Guo2018 T
DOCK8     M32056chr9:
420958-420958
AGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A3733G
c.A3829G
c.A4033G
p.S1245G
p.S1277G
p.S1345G
13.21-Guo2018 T
DOCK8     M13451chr9:
304594-304594
CGexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C214G
c.C214G
c.C418G
p.P72A
p.P72A
p.P140A
3.001-Wang2016 T
DOCK8     M27798chr9:
325717-325717
GAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G670A
c.G670A
c.G874A
p.D224N
p.D224N
p.D292N
35.01.0E-4Wang2016 T
DOCK8     M20274chr9:
463535-463535
GCexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G5787C
c.G5883C
c.G6087C
p.E1929D
p.E1961D
p.E2029D
16.227.427E-5Guo2018 T
Wang2016 T
DOCK8     M23076chr9:
407069-407069
GTexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G3230T
c.G3326T
c.G3530T
p.G1077V
p.G1109V
p.G1177V
15.568.272E-6Guo2018 T
Wang2016 T
DOCK8     SP0048132chr9:
399218-399218
CTexonicDe novononsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C2893T
c.C2989T
c.C3193T
p.R965W
p.R997W
p.R1065W
19.29-Fu2022 E
DOCK8     N6A9Kchr9:
386340-386340
CTexonicUnknownnonsynonymous SNVNM_001193536
NM_203447
c.C2584T
c.C2788T
p.R862C
p.R930C
16.828.261E-6Stessman2017 T
DOCK8     M26909chr9:
325717-325717
GAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G670A
c.G670A
c.G874A
p.D224N
p.D224N
p.D292N
35.01.0E-4Wang2016 T
DOCK8     M16238chr9:
377154-377154
GCexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G2179C
c.G2179C
c.G2383C
p.V727L
p.V727L
p.V795L
12.681.0E-4Wang2016 T
DOCK8     DEASD_0074_001chr9:
452034-452035
GTGexonicDe novoframeshift deletionNM_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
DOCK8     M23757chr9:
432233-432233
TGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.T4394G
c.T4490G
c.T4694G
p.F1465C
p.F1497C
p.F1565C
22.4-Guo2018 T
Wang2016 T
DOCK8     R8F8Zchr9:
428479-428479
CTexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C4156T
c.C4252T
c.C4456T
p.R1386C
p.R1418C
p.R1486C
20.21.651E-5Stessman2017 T
DOCK8     M20615chr9:
428480-428480
GAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G4157A
c.G4253A
c.G4457A
p.R1386H
p.R1418H
p.R1486H
33.08.254E-6Guo2018 T
Wang2016 T
DOCK8     SP0144096chr9:
432351-432351
ACintronicDe novo--Fu2022 E
DOCK8     SP0106136chr9:
429651-429651
AGintronicDe novo--Fu2022 E
DOCK8     1-0551-003chr9:
311307-311307
ATintronicDe novo--Yuen2017 G
DOCK8     PN400186chr9:
428474-428474
CTexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C4151T
c.C4247T
c.C4451T
p.T1384I
p.T1416I
p.T1484I
20.9-Leblond2019 E
DOCK8     1-0285-004chr9:
271127-271127
TCintronicDe novo--Yuen2017 G
DOCK8     7-0095-003chr9:
298765-298765
CTintronicDe novo--Yuen2017 G
DOCK8     M18444chr9:
377191-377191
TGexonicPaternalnonsynonymous SNVNM_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.p1chr9:
256680-256680
CGintronicDe novo--Turner2016 G
DOCK8     M17511chr9:
414871-414871
TGexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.T3320G
c.T3416G
c.T3620G
p.V1107G
p.V1139G
p.V1207G
17.69-Guo2018 T
Wang2016 T
DOCK8     SP0018345chr9:
368183-368183
CGintronicDe novo9.9068.256E-6Feliciano2019 E
DOCK8     HN0065.p1chr9:
399219-399219
GAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G2894A
c.G2990A
c.G3194A
p.R965Q
p.R997Q
p.R1065Q
33.04.138E-5Guo2018 T
DOCK8     HN0019.p1chr9:
441350-441350
GAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G4988A
c.G5084A
c.G5288A
p.R1663Q
p.R1695Q
p.R1763Q
36.0-Guo2018 T
DOCK8     M13297chr9:
368088-368088
AGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A1546G
c.A1546G
c.A1750G
p.I516V
p.I516V
p.I584V
4.9224.12E-5Guo2018 T
Wang2016 T
DOCK8     M18390chr9:
396857-396857
CTexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C2743T
c.C2839T
c.C3043T
p.R915C
p.R947C
p.R1015C
33.04.119E-5Guo2018 T
Wang2016 T
DOCK8     M23651chr9:
376270-376270
AGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A1966G
c.A1966G
c.A2170G
p.I656V
p.I656V
p.I724V
1.532-Guo2018 T
Wang2016 T
DOCK8     2-1486-003chr9:
343069-343069
TCintronicDe novo--Yuen2016 G
Yuen2017 G
DOCK8     M10060chr9:
428390-428390
GAexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G4067A
c.G4163A
c.G4367A
p.S1356N
p.S1388N
p.S1456N
10.918.241E-6Guo2018 T
Wang2016 T
DOCK8     M15166chr9:
446533-446533
GAexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G5444A
c.G5540A
c.G5744A
p.R1815K
p.R1847K
p.R1915K
21.1-Guo2018 T
Wang2016 T
DOCK8     M19612chr9:
420449-420449
AGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A3589G
c.A3685G
c.A3889G
p.M1197V
p.M1229V
p.M1297V
12.381.648E-5Guo2018 T
Wang2016 T
DOCK8     M19761chr9:
426926-426926
AGexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A3983G
c.A4079G
c.A4283G
p.N1328S
p.N1360S
p.N1428S
17.352.0E-4Guo2018 T
Wang2016 T
DOCK8     217-14304-3540chr9:
414814-414814
CGexonicInheritednonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C3263G
c.C3359G
c.C3563G
p.A1088G
p.A1120G
p.A1188G
34.08.237E-6Stessman2017 T
DOCK8     M15210chr9:
446559-446559
GAexonicMaternalnonsynonymous SNVNM_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.p1chr9:
441350-441350
GAexonicUnknownnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G4988A
c.G5084A
c.G5288A
p.R1663Q
p.R1695Q
p.R1763Q
36.0-Guo2018 T
DOCK8     09C79974chr9:
449801-449801
TCexonicDe novosynonymous SNVNM_001190458
NM_001193536
NM_203447
c.T5535C
c.T5631C
c.T5835C
p.I1845I
p.I1877I
p.I1945I
--Fu2022 E
Satterstrom2020 E
DOCK8     M08784chr9:
443440-443440
ACexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.A5204C
c.A5300C
c.A5504C
p.Q1735P
p.Q1767P
p.Q1835P
23.4-Guo2018 T
DOCK8     M17677chr9:
432233-432233
TG/TexonicPaternal--Guo2018 T
DOCK8     M03413chr9:
449883-449883
CC/GexonicPaternal--Guo2018 T
DOCK8     M01773chr9:
418203-418203
CC/TexonicPaternal--Guo2018 T
DOCK8     M08464chr9:
317064-317064
CAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.C559A
c.C559A
c.C763A
p.P187T
p.P187T
p.P255T
12.231.0E-4Guo2018 T
DOCK8     1000247666017224-Cchr9:
452023-452023
GAexonicDe novononsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G5674A
c.G5770A
c.G5974A
p.V1892I
p.V1924I
p.V1992I
26.0-Fu2022 E
DOCK8     07C69311chr9:
439338-439338
GAexonicInheritednonsynonymous SNVNM_001190458
NM_001193536
NM_203447
c.G4873A
c.G4969A
c.G5173A
p.E1625K
p.E1657K
p.E1725K
34.01.648E-5Stessman2017 T
Source Variant Information

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Paper alias:

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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 notesView
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