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Results for "CHD8"

Variant Events: 221

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
CHD8     M02193chr14:
21871185-21871186
ATAexonicDe novoframeshift deletionNM_001170629
NM_020920
c.3704delA
c.2867delA
p.N1235fs
p.N956fs
--Guo2018 T
Li2017 T
Stessman2017 T
Wang2016 T
CHD8     M08656chr14:
21878123-21878124
ATAexonicDe novoframeshift deletionNM_001170629
NM_020920
c.2250delA
c.1413delA
p.K750fs
p.K471fs
--Guo2018 T
Li2017 T
Stessman2017 T
Wang2016 T
CHD8     SP0044376chr14:
21863962-21863962
TGintronicDe novo--Fu2022 E
CHD8     SP0042123chr14:
21876862-21876862
CTsplicingDe novosplicing22.2-Fu2022 E
CHD8     SP0122295chr14:
21870420-21870420
TCintronicDe novo--Fu2022 E
CHD8     Husson2020:213chr14:
21871619-21871619
GAexonicstopgainNM_001170629
NM_020920
c.C3511T
c.C2674T
p.Q1171X
p.Q892X
26.2-Husson2020 E
CHD8     SP0024187chr14:
21873367-21873367
CTsplicingDe novosplicing21.8-Fu2022 E
CHD8     M16139chr14:
21882530-21882530
TCexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.A2072G
c.A1235G
p.D691G
p.D412G
24.2-Guo2018 T
Li2017 T
Wang2016 T
CHD8     SP0110871chr14:
21870494-21870494
CTsplicingDe novosplicing21.4-Fu2022 E
CHD8     M08305chr14:
21897245-21897245
GCexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.C1093G
c.C256G
p.Q365E
p.Q86E
13.952.484E-5Guo2018 T
CHD8     Lim2017:36002chr14:
21870169-21870169
GAexonicDe novostopgainNM_001170629
NM_020920
c.C4009T
c.C3172T
p.R1337X
p.R1058X
36.0-Lim2017 E
CHD8     SSC04312chr14:
21871373-21871373
TCsplicingDe novosplicing19.43-Antaki2022 GE
Lim2017 E
CHD8     Lim2017:4894chr14:
21871178-21871178
GAexonicDe novostopgainNM_001170629
NM_020920
c.C3712T
c.C2875T
p.Q1238X
p.Q959X
35.0-Lim2017 E
CHD8     M12374chr14:
21862229-21862229
GAexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.C5725T
c.C4888T
p.R1909W
p.R1630W
17.1-Guo2018 T
Wang2016 T
CHD8     M21743chr14:
21861748-21861748
GAexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.C6206T
c.C5369T
p.S2069L
p.S1790L
16.114.65E-5Wang2016 T
CHD8     M21621chr14:
21897151-21897151
AGexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.T1187C
c.T350C
p.V396A
p.V117A
21.1-Guo2018 T
Wang2016 T
CHD8     M2433chr14:
21863090-21863090
GAexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.C5371T
c.C4534T
p.R1791W
p.R1512W
19.694.174E-5Wang2016 T
CHD8     Husson2020:223chr14:
21876931-21876933
TTTTexonicDe novoframeshift deletionNM_001170629
NM_020920
c.2416_2417del
c.1579_1580del
p.K806fs
p.K527fs
--Husson2020 E
CHD8     M8903chr14:
21861748-21861748
GAexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.C6206T
c.C5369T
p.S2069L
p.S1790L
16.114.65E-5Wang2016 T
CHD8     M12487chr14:
21859777-21859777
GAexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.C6910T
c.C6073T
p.P2304S
p.P2025S
15.71-Guo2018 T
Wang2016 T
CHD8     Husson2020:220chr14:
21870601-21870601
GGGAexonicDe novoframeshift insertionNM_001170629
NM_020920
c.3775_3776insTC
c.2938_2939insTC
p.T1259fs
p.T980fs
--Husson2020 E
CHD8     AU0316301chr14:
21868157-21868158
TAAexonicDe novoframeshift deletionNM_001170629
NM_020920
c.4800delA
c.3963delA
p.L1600fs
p.L1321fs
--Stessman2017 T
Stessman2017 T
CHD8     ITAN_1435chr14:
21883913-21883914
CGCexonicDe novoframeshift deletionNM_001170629
NM_020920
c.1869delC
c.1032delC
p.G623fs
p.G344fs
--Wang2020 T
CHD8     SAGE_BK_722_01chr14:
21878028-21878029
GTGexonicDe novoframeshift deletionNM_001170629
NM_020920
c.2345delA
c.1508delA
p.H782fs
p.H503fs
--Wang2020 T
CHD8     ACGC_M02193chr14:
21871185-21871186
ATAexonicDe novoframeshift deletionNM_001170629
NM_020920
c.3704delA
c.2867delA
p.N1235fs
p.N956fs
--Wang2020 T
CHD8     ACGC_M17463chr14:
21862265-21862265
GGTexonicDe novoframeshift insertionNM_001170629
NM_020920
c.5688dupA
c.4851dupA
p.R1897fs
p.R1618fs
--Wang2020 T
CHD8     SAGE_BK661.01chr14:
21875068-21875068
GAexonicDe novostopgainNM_001170629
NM_020920
c.C2854T
c.C2017T
p.R952X
p.R673X
34.0-Wang2020 T
CHD8     ITAN_1886chr14:
21899442-21899442
GAexonicDe novostopgainNM_001170629c.C361Tp.Q121X36.0-Wang2020 T
CHD8     ACGC_GX0493.p1chr14:
21899169-21899169
GAexonicDe novostopgainNM_001170629c.C634Tp.R212X36.0-Wang2020 T
CHD8     2-1323-003chr14:
21908963-21908963
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
CHD8     AGRE_07C70225chr14:
21897242-21897242
GAexonicDe novostopgainNM_001170629
NM_020920
c.C1096T
c.C259T
p.Q366X
p.Q87X
37.0-Wang2020 T
CHD8     AGRE_AU030803chr14:
21882503-21882503
CTexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.G2099A
c.G1262A
p.R700H
p.R421H
32.0-Wang2020 T
CHD8     ACGC_M08656chr14:
21878123-21878124
ATAexonicDe novoframeshift deletionNM_001170629
NM_020920
c.2250delA
c.1413delA
p.K750fs
p.K471fs
--Wang2020 T
CHD8     TASC_211-5221-3chr14:
21865980-21865980
ATsplicingDe novosplicing15.92-Wang2020 T
CHD8     SAGE_BK763-01chr14:
21870494-21870494
CTsplicingDe novosplicing21.4-Wang2020 T
CHD8     GX0221.p1chr14:
21878042-21878042
TCexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.A2332G
c.A1495G
p.I778V
p.I499V
13.48-Guo2018 T
CHD8     GX0221.p2chr14:
21878042-21878042
TCexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.A2332G
c.A1495G
p.I778V
p.I499V
13.48-Guo2018 T
CHD8     GX0515.p1chr14:
21896314-21896314
GAexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.C1315T
c.C478T
p.H439Y
p.H160Y
16.854.14E-5Guo2018 T
CHD8     GX0076.p1chr14:
21881132-21881132
GTexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.C2166A
c.C1329A
p.D722E
p.D443E
17.14-Guo2018 T
CHD8     GX0456.p1chr14:
21869112-21869112
CTexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.G4292A
c.G3455A
p.R1431H
p.R1152H
15.32-Guo2018 T
CHD8     SAGE_BK882-01chr14:
21863072-21863072
GAexonicDe novostopgainNM_001170629
NM_020920
c.C5389T
c.C4552T
p.R1797X
p.R1518X
47.0-Wang2020 T
CHD8     HN0077.p1chr14:
21876948-21876948
GCexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.C2401G
c.C1564G
p.L801V
p.L522V
12.53-Guo2018 T
CHD8     ASD-867chr14:
21868432-21868432
TTTexonicDe novoframeshift insertionNM_001170629
NM_020920
c.4605dupA
c.3768dupA
p.G1535fs
p.G1256fs
--Du2018 E
CHD8     M30377chr14:
21875047-21875047
TGexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.A2875C
c.A2038C
p.K959Q
p.K680Q
27.2-Guo2018 T
CHD8     1-0559-003chr14:
21861805-21861805
GGTexonicDe novoframeshift insertionNM_001170629
NM_020920
c.6148dupA
c.5311dupA
p.T2050fs
p.T1771fs
--Wang2020 T
Yuen2017 G
CHD8     SP0011046chr14:
21896022-21896022
ACintronicDe novo--Fu2022 E
CHD8     SP0000759chr14:
21871807-21871807
AATexonicDe novoframeshift insertionNM_001170629
NM_020920
c.3322dupA
c.2485dupA
p.I1108fs
p.I829fs
--Feliciano2019 E
Fu2022 E
CHD8     A14chr14:
21862295-21862297
GAGGexonicDe novoframeshift deletionNM_001170629
NM_020920
c.5657_5658del
c.4820_4821del
p.T1886fs
p.T1607fs
--Wu2018 G
CHD8     SP0003489chr14:
21899097-21899097
GAexonicDe novostopgainNM_001170629c.C706Tp.Q236X37.0-Feliciano2019 E
Fu2022 E
CHD8     12714.p1 Complex Event; expand row to view variants  De novostopgainNM_001170629
NM_001170629
c.C185A
c.C185G
p.S62X
p.S62X
23.0-O’Roak2012a T
O’Roak2014 T
Wang2020 T
CHD8     13986.p1chr14:
21878133-21878133
GGTexonicDe novostopgainNM_001170629
NM_020920
c.2240dupA
c.1403dupA
p.Y747_L748delinsX
p.Y468_L469delinsX
--O’Roak2012a T
O’Roak2014 T
Wang2020 T
CHD8     SP0011046chr14:
21896030-21896030
GCexonicDe novosynonymous SNVNM_001170629
NM_020920
c.C1599G
c.C762G
p.L533L
p.L254L
--Feliciano2019 E
CHD8     ACGC_HEN0083.p1chr14:
21868156-21868157
CTCexonicDe novoframeshift deletionNM_001170629
NM_020920
c.4800delA
c.3963delA
p.L1600fs
p.L1321fs
--Wang2020 T
CHD8     B0079chr14:
21861922-21861922
TTTexonicMaternalframeshift insertionNM_001170629
NM_020920
c.6032dupA
c.5195dupA
p.E2011fs
p.E1732fs
--Xiong2019 ET
CHD8     AGRE_AU0316301chr14:
21868156-21868157
CTCexonicDe novoframeshift deletionNM_001170629
NM_020920
c.4800delA
c.3963delA
p.L1600fs
p.L1321fs
--Wang2020 T
CHD8     TRE_1435chr14:
21883913-21883914
CGCexonicDe novoframeshift deletionNM_001170629
NM_020920
c.1869delC
c.1032delC
p.G623fs
p.G344fs
--Fu2022 E
CHD8     ACGC_YN0006.p1chr14:
21871807-21871807
AATexonicUnknownframeshift insertionNM_001170629
NM_020920
c.3322dupA
c.2485dupA
p.I1108fs
p.I829fs
--Wang2020 T
CHD8     503666072100-Cchr14:
21871807-21871807
AATexonicDe novoframeshift insertionNM_001170629
NM_020920
c.3322dupA
c.2485dupA
p.I1108fs
p.I829fs
--Fu2022 E
CHD8     36002chr14:
21870169-21870169
GAexonicDe novostopgainNM_001170629
NM_020920
c.C4009T
c.C3172T
p.R1337X
p.R1058X
36.0-Fu2022 E
CHD8     GEA343chr14:
21866016-21866016
GAexonicDe novostopgainNM_001170629
NM_020920
c.C5017T
c.C4180T
p.R1673X
p.R1394X
46.0-Fu2022 E
CHD8     G01-GEA-84-HIchr14:
21870587-21870587
CTexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.G3790A
c.G2953A
p.E1264K
p.E985K
34.0-Fu2022 E
Lim2017 E
Satterstrom2020 E
CHD8     08C78508chr14:
21884050-21884050
CTexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.G1733A
c.G896A
p.R578H
p.R299H
28.5-Fu2022 E
Satterstrom2020 E
CHD8     6249chr14:
21861376-21861378
ACTAexonicDe novoframeshift deletionNM_001170629
NM_020920
c.6355_6356del
c.5518_5519del
p.S2119fs
p.S1840fs
--Fu2022 E
CHD8     GEA412chr14:
21861284-21861284
CCTexonicDe novoframeshift insertionNM_001170629
NM_020920
c.6448dupA
c.5611dupA
p.R2150fs
p.R1871fs
--Fu2022 E
CHD8     4894chr14:
21871178-21871178
GAexonicDe novostopgainNM_001170629
NM_020920
c.C3712T
c.C2875T
p.Q1238X
p.Q959X
35.0-Fu2022 E
CHD8     M14999chr14:
21899387-21899387
GCexonicMaternalnonsynonymous SNVNM_001170629c.C416Gp.S139C19.97-Guo2018 T
Wang2016 T
CHD8     TRE_1886chr14:
21899442-21899442
GAexonicDe novostopgainNM_001170629c.C361Tp.Q121X36.0-Fu2022 E
CHD8     200675467_1082035000chr14:
21873391-21873391
CTexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.G3284A
c.G2447A
p.C1095Y
p.C816Y
22.7-Fu2022 E
CHD8     A001chr14:
21862295-21862297
GAGGexonicDe novoframeshift deletionNM_001170629
NM_020920
c.5657_5658del
c.4820_4821del
p.T1886fs
p.T1607fs
--Li2017 T
CHD8     M8790chr14:
21861665-21861665
CGexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.G6289C
c.G5452C
p.E2097Q
p.E1818Q
14.041.0E-4Wang2016 T
CHD8     M8305chr14:
21897245-21897245
GCexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.C1093G
c.C256G
p.Q365E
p.Q86E
13.952.484E-5Wang2016 T
CHD8     08C74145chr14:
21865980-21865980
ATsplicingDe novosplicing15.92-Fu2022 E
Satterstrom2020 E
CHD8     M18412chr14:
21861665-21861665
CGexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.G6289C
c.G5452C
p.E2097Q
p.E1818Q
14.041.0E-4Wang2016 T
CHD8     M17425chr14:
21861665-21861665
CGexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.G6289C
c.G5452C
p.E2097Q
p.E1818Q
14.041.0E-4Wang2016 T
CHD8     08C77727chr14:
21870074-21870074
GAintronicDe novo-8.29E-6Kosmicki2017 E
Satterstrom2020 E
CHD8     M3713chr14:
21861665-21861665
CGexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.G6289C
c.G5452C
p.E2097Q
p.E1818Q
14.041.0E-4Wang2016 T
CHD8     Mahjani2021:66chr14:
21871240-21871240
TCexonicnonsynonymous SNVNM_001170629
NM_020920
c.A3650G
c.A2813G
p.N1217S
p.N938S
17.33-Mahjani2021 E
CHD8     ACGC_SD0066.p1chr14:
21876872-21876872
CAexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.G2477T
c.G1640T
p.W826L
p.W547L
29.4-Wang2020 T
CHD8     ACGC_HN0277.p1chr14:
21861921-21861921
CCTexonicMaternalframeshift insertionNM_001170629
NM_020920
c.6032dupA
c.5195dupA
p.E2011fs
p.E1732fs
--Wang2020 T
CHD8     08C76562chr14:
21867866-21867866
TGsplicingDe novosplicing17.66-Fu2022 E
Satterstrom2020 E
CHD8     ACGC_GX0347.p1chr14:
21862151-21862151
TAexonicMaternalstopgainNM_001170629
NM_020920
c.A5803T
c.A4966T
p.R1935X
p.R1656X
46.0-Wang2020 T
CHD8     SAGE_BK800-01chr14:
21863071-21863071
CAexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.G5390T
c.G4553T
p.R1797L
p.R1518L
34.0-Wang2020 T
CHD8     220-9823-203chr14:
21876489-21876489
CTexonicUnknown, De novononsynonymous SNVNM_001170629
NM_020920
c.G2712A
c.G1875A
p.M904I
p.M625I
18.24-O’Roak2014 T
Stessman2017 T
CHD8     211-5221-3chr14:
21865980-21865980
ATsplicingDe novosplicing15.92-O’Roak2014 T
Stessman2017 T
Stessman2017 T
CHD8     Mahjani2021:69chr14:
21881116-21881116
TCexonicnonsynonymous SNVNM_001170629
NM_020920
c.A2182G
c.A1345G
p.R728G
p.R449G
20.1-Mahjani2021 E
CHD8     SF0014679.p1chr14:
21875067-21875067
CTexonicnonsynonymous SNVNM_001170629
NM_020920
c.G2855A
c.G2018A
p.R952Q
p.R673Q
36.0-Wang2020 T
CHD8     9K532chr14:
21882578-21882578
CAsplicingDe novosplicing15.36-Fu2022 E
Satterstrom2020 E
CHD8     SF0025145.p1chr14:
21873959-21873959
ATexonicnonsynonymous SNVNM_001170629
NM_020920
c.T2972A
c.T2135A
p.L991H
p.L712H
25.8-Wang2020 T
CHD8     SF0042123.p1chr14:
21876862-21876862
CTsplicingsplicing22.2-Wang2020 T
CHD8     SF0084710.p1chr14:
21875068-21875068
GCexonicnonsynonymous SNVNM_001170629
NM_020920
c.C2854G
c.C2017G
p.R952G
p.R673G
23.0-Wang2020 T
CHD8     SF0037507.p1chr14:
21861851-21861851
GAexonicstopgainNM_001170629
NM_020920
c.C6103T
c.C5266T
p.R2035X
p.R1756X
46.0-Wang2020 T
CHD8     SF0010928.p1chr14:
21861830-21861832
CATCexonicframeshift deletionNM_001170629
NM_020920
c.6122_6123del
c.5285_5286del
p.Y2041fs
p.Y1762fs
--Wang2020 T
CHD8     SF0024187.p1chr14:
21873367-21873367
CTsplicingsplicing21.8-Wang2020 T
CHD8     SF0110871.p1chr14:
21870494-21870494
CTsplicingsplicing21.4-Wang2020 T
CHD8     M04343chr14:
21861785-21861785
TCexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.A6169G
c.A5332G
p.S2057G
p.S1778G
13.34-Guo2018 T
CHD8     M03503chr14:
21860701-21860701
TGexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.A6736C
c.A5899C
p.M2246L
p.M1967L
2.836-Guo2018 T
CHD8     M02433chr14:
21863090-21863090
GAexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.C5371T
c.C4534T
p.R1791W
p.R1512W
19.694.174E-5Guo2018 T
CHD8     M08680chr14:
21861926-21861926
CTexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.G6028A
c.G5191A
p.E2010K
p.E1731K
14.868.327E-6Guo2018 T
CHD8     M01593chr14:
21854250-21854250
CTexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.G7268A
c.G6431A
p.R2423Q
p.R2144Q
14.676.326E-5Guo2018 T
CHD8     M20562chr14:
21883898-21883898
TCexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.A1885G
c.A1048G
p.M629V
p.M350V
14.01.657E-5Guo2018 T
CHD8     SF0083761.p1chr14:
21899339-21899339
GCexonicstopgainNM_001170629c.C464Gp.S155X34.0-Wang2020 T
CHD8     M19764chr14:
21860015-21860018
CCTTCexonicPaternalnonframeshift deletionNM_001170629
NM_020920
c.6859_6861del
c.6022_6024del
p.2287_2287del
p.2008_2008del
-4.976E-5Guo2018 T
CHD8     Krgovic2022:045750chr14:
21859107-21859107
TCexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.A7181G
c.A6344G
p.K2394R
p.K2115R
15.94-Krgovic2022 E
CHD8     M20258chr14:
21859637-21859637
ATexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.T7050A
c.T6213A
p.D2350E
p.D2071E
12.45-Guo2018 T
CHD8     115449chr14:
21882503-21882503
CAexonicInheritednonsynonymous SNVNM_001170629
NM_020920
c.G2099T
c.G1262T
p.R700L
p.R421L
31.0-Stessman2017 T
CHD8     SSC04937chr14:
21861376-21861378
ACTAexonicframeshift deletionNM_001170629
NM_020920
c.6355_6356del
c.5518_5519del
p.S2119fs
p.S1840fs
--Antaki2022 GE
CHD8     SSC10928chr14:
21859175-21859175
AATexonicDe novoframeshift insertionNM_001170629
NM_020920
c.7112dupA
c.6275dupA
p.N2371fs
p.N2092fs
--Antaki2022 GE
Fu2022 E
CHD8     SP0010928chr14:
21861830-21861832
CATCexonicDe novoframeshift deletionNM_001170629
NM_020920
c.6122_6123del
c.5285_5286del
p.Y2041fs
p.Y1762fs
--Antaki2022 GE
Fu2022 E
CHD8     SSC06786chr14:
21861643-21861647
TCTTCTexonicframeshift deletionNM_001170629
NM_020920
c.6307_6310del
c.5470_5473del
p.E2103fs
p.E1824fs
--Antaki2022 GE
CHD8     SP0084710chr14:
21875068-21875068
GCexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.C2854G
c.C2017G
p.R952G
p.R673G
23.0-Antaki2022 GE
Fu2022 E
CHD8     SP0014679chr14:
21875067-21875067
CTexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.G2855A
c.G2018A
p.R952Q
p.R673Q
36.0-Antaki2022 GE
Fu2022 E
CHD8     HN0187.p1chr14:
21860027-21860027
GTexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.C6850A
c.C6013A
p.H2284N
p.H2005N
14.624.974E-5Guo2018 T
CHD8     Radboud_09-07101chr14:
21875110-21875110
GAexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.C2812T
c.C1975T
p.R938C
p.R659C
21.01.163E-5Wang2020 T
CHD8     SSC06690chr14:
21899618-21899618
GCexonicstopgainNM_001170629c.C185Gp.S62X22.5-Antaki2022 GE
CHD8     Radboud_09-07100chr14:
21875110-21875110
GAexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.C2812T
c.C1975T
p.R938C
p.R659C
21.01.163E-5Wang2020 T
CHD8     SP0083761chr14:
21899339-21899339
GCexonicDe novostopgainNM_001170629c.C464Gp.S155X34.0-Antaki2022 GE
Fu2022 E
CHD8     SSC10125chr14:
21870169-21870169
GAexonicstopgainNM_001170629
NM_020920
c.C4009T
c.C3172T
p.R1337X
p.R1058X
36.0-Antaki2022 GE
CHD8     SP0037507chr14:
21861851-21861851
GAexonicDe novostopgainNM_001170629
NM_020920
c.C6103T
c.C5266T
p.R2035X
p.R1756X
46.0-Antaki2022 GE
Fu2022 E
CHD8     SP0025145chr14:
21873959-21873959
ATexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.T2972A
c.T2135A
p.L991H
p.L712H
25.8-Antaki2022 GE
Fu2022 E
CHD8     SSC08799chr14:
21871178-21871178
GAexonicstopgainNM_001170629
NM_020920
c.C3712T
c.C2875T
p.Q1238X
p.Q959X
35.0-Antaki2022 GE
CHD8     HEN0228.p1chr14:
21899657-21899657
ACexonicMaternalnonsynonymous SNVNM_001170629c.T146Gp.M49R12.36-Guo2018 T
CHD8     HN0142.p1chr14:
21897250-21897250
TGexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.A1088C
c.A251C
p.Q363P
p.Q84P
13.191.656E-5Guo2018 T
CHD8     HEN0001.p1chr14:
21862037-21862037
GAexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.C5917T
c.C5080T
p.P1973S
p.P1694S
8.3538.287E-6Guo2018 T
CHD8     GX0569.p1chr14:
21860668-21860668
CTexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.G6769A
c.G5932A
p.D2257N
p.D1978N
12.911.679E-5Guo2018 T
CHD8     200675467@1082035000chr14:
21873391-21873391
CTexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.G3284A
c.G2447A
p.C1095Y
p.C816Y
22.7-Satterstrom2020 E
CHD8     Radboud_09-07102chr14:
21875110-21875110
GAexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.C2812T
c.C1975T
p.R938C
p.R659C
21.01.163E-5Wang2020 T
CHD8     SD0066.p1chr14:
21876872-21876872
CAexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.G2477T
c.G1640T
p.W826L
p.W547L
29.4-Guo2018 T
CHD8     JS0046.p1chr14:
21875152-21875152
TCexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.A2770G
c.A1933G
p.I924V
p.I645V
22.6-Guo2018 T
CHD8     M12307chr14:
21863173-21863173
TCexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.A5288G
c.A4451G
p.E1763G
p.E1484G
33.0-Guo2018 T
Wang2016 T
CHD8     ASDFI_1077chr14:
21870652-21870652
CTexonicUnknown, De novononsynonymous SNVNM_001170629
NM_020920
c.G3725A
c.G2888A
p.R1242Q
p.R963Q
32.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
CHD8     AU036Achr14:
21876700-21876700
AGexonicUnknown, De novononsynonymous SNVNM_001170629
NM_020920
c.T2501C
c.T1664C
p.L834P
p.L555P
21.8-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
CHD8     Chen2017:52chr14:
21873391-21873391
CTexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.G3284A
c.G2447A
p.C1095Y
p.C816Y
22.7-Chen2017 E
CHD8     GX0493.p1chr14:
21899169-21899169
GAexonicDe novostopgainNM_001170629c.C634Tp.R212X36.0-Guo2018 T
CHD8     AU3777302chr14:
21870498-21870498
ATexonicDe novosynonymous SNVNM_001170629
NM_020920
c.T3879A
c.T3042A
p.T1293T
p.T1014T
7.272-Yuen2017 G
CHD8     A7chr14:
21878056-21878056
CTexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.G2318A
c.G1481A
p.R773Q
p.R494Q
19.342.0E-4Wu2018 G
CHD8     A17chr14:
21862012-21862012
GCexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.C5942G
c.C5105G
p.S1981C
p.S1702C
14.61-Wu2018 G
CHD8     08C72794chr14:
21882516-21882516
GTexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.C2086A
c.C1249A
p.Q696K
p.Q417K
26.0-Fu2022 E
Satterstrom2020 E
CHD8     14406.p1chr14:
21854022-21854025
GGGTGexonicDe novononframeshift deletionNM_001170629
NM_020920
c.7493_7495del
c.6656_6658del
p.2498_2499del
p.2219_2220del
--Iossifov2014 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
CHD8     14233.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001170629
NM_020920
NM_001170629
NM_020920
c.7112dupA
c.6275dupA
c.7111dupA
c.6274dupA
p.N2371fs
p.N2092fs
p.N2371fs
p.N2092fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
CHD8     ACGC_M12452chr14:
21854308-21854308
GAexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.C7210T
c.C6373T
p.R2404W
p.R2125W
17.68-Wang2020 T
CHD8     12991.p1chr14:
21861643-21861647
TCTTCTexonicDe novoframeshift deletionNM_001170629
NM_020920
c.6307_6310del
c.5470_5473del
p.E2103fs
p.E1824fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
CHD8     GX0347.p1chr14:
21862151-21862151
TAexonicMaternalstopgainNM_001170629
NM_020920
c.A5803T
c.A4966T
p.R1935X
p.R1656X
46.0-Guo2018 T
CHD8     ACGC_GX0540.p1chr14:
21876546-21876547
GTGexonicPaternalframeshift deletionNM_001170629
NM_020920
c.2654delA
c.1817delA
p.N885fs
p.N606fs
--Wang2020 T
CHD8     14016.p1chr14:
21870169-21870169
GAexonicDe novostopgainNM_001170629
NM_020920
c.C4009T
c.C3172T
p.R1337X
p.R1058X
36.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
CHD8     Li2017:17463chr14:
21862265-21862265
GGTexonicDe novoframeshift insertionNM_001170629
NM_020920
c.5688dupA
c.4851dupA
p.R1897fs
p.R1618fs
--Li2017 T
CHD8     ACGC_M02433chr14:
21863090-21863090
GAexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.C5371T
c.C4534T
p.R1791W
p.R1512W
19.694.174E-5Wang2020 T
CHD8     13844.p1chr14:
21871178-21871178
GAexonicDe novostopgainNM_001170629
NM_020920
c.C3712T
c.C2875T
p.Q1238X
p.Q959X
35.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
CHD8     ACGC_M14983chr14:
21860964-21860964
CTexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.G6473A
c.G5636A
p.R2158H
p.R1879H
23.42.0E-4Wang2020 T
CHD8     11654.p1chr14:
21871373-21871373
TCsplicingDe novosplicing19.43-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
CHD8     13900.p1 Complex Event; expand row to view variants  Unknown, De novononframeshift deletion, synonymous SNVNM_001170629
NM_020920
NM_001170629
NM_020920
c.1593_1601del
c.756_764del
c.C1593T
c.C756T
p.531_534del
p.252_255del
p.S531S
p.S252S
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krumm2015 E
Satterstrom2020 E
Wang2020 T
CHD8     2-1176-003chr14:
21865980-21865980
ATsplicingDe novosplicing15.92-Wang2020 T
Yuen2017 G
CHD8     08C72914chr14:
21868219-21868219
GAexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.C4738T
c.C3901T
p.R1580W
p.R1301W
15.94-Fu2022 E
Satterstrom2020 E
CHD8     GX0565.p1chr14:
21862285-21862285
AGexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.T5669C
c.T4832C
p.I1890T
p.I1611T
17.94-Guo2018 T
CHD8     HEN0083.p1chr14:
21868156-21868157
CTCexonicDe novoframeshift deletionNM_001170629
NM_020920
c.4800delA
c.3963delA
p.L1600fs
p.L1321fs
--Guo2018 T
CHD8     HN0277.p1chr14:
21861921-21861921
CCAexonicMaternalframeshift insertionNM_001170629
NM_020920
c.6032_6033insT
c.5195_5196insT
p.E2011fs
p.E1732fs
--Guo2018 T
CHD8     09C83873chr14:
21876489-21876489
CTexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.G2712A
c.G1875A
p.M904I
p.M625I
18.24-Fu2022 E
Satterstrom2020 E
CHD8     13963.p1chr14:
21870489-21870489
AGintronicMosaic Pat.-1.0E-4Dou2017 E
CHD8     UK28768chr14:
21878144-21878144
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G2230A
c.G1393A
p.V744I
p.V465I
28.8-D’Gama2015 T
CHD8     HEN0021.p1chr14:
21875083-21875083
TCexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.A2839G
c.A2002G
p.I947V
p.I668V
18.75-Guo2018 T
CHD8     SX0022.p1chr14:
21862582-21862582
TCexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.A5453G
c.A4616G
p.D1818G
p.D1539G
19.11-Guo2018 T
CHD8     JS0029.p1chr14:
21896252-21896252
CA/CexonicPaternal--Guo2018 T
CHD8     HN0141.p1chr14:
21882552-21882552
TCexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.A2050G
c.A1213G
p.T684A
p.T405A
21.0-Guo2018 T
CHD8     PN400137chr14:
21862289-21862289
GAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.C5665T
c.C4828T
p.R1889C
p.R1610C
17.432.0E-4Leblond2019 E
CHD8     1-0162-004chr14:
21867866-21867866
TGsplicingInheritedsplicing17.66-Yuen2017 G
CHD8     GX0540.p1chr14:
21876546-21876547
GTGexonicPaternalframeshift deletionNM_001170629
NM_020920
c.2654delA
c.1817delA
p.N885fs
p.N606fs
--Guo2018 T
CHD8     M17463 Complex Event; expand row to view variants  De novoframeshift insertionNM_001170629
NM_020920
c.5688dupA
c.4851dupA
p.R1897fs
p.R1618fs
--Guo2018 T
Stessman2017 T
Stessman2017 T
Wang2016 T
CHD8     21705-34281chr14:
21875188-21875188
GAexonicInheritednonsynonymous SNVNM_001170629
NM_020920
c.C2734T
c.C1897T
p.R912C
p.R633C
31.0-Callaghan2019 G
CHD8     TASC_211-5215-3chr14:
21854259-21854259
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G7259A
c.G6422A
p.R2420H
p.R2141H
19.013.614E-5Wang2020 T
CHD8     TASC_215-13190-2073chr14:
21884050-21884050
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G1733A
c.G896A
p.R578H
p.R299H
28.5-Wang2020 T
CHD8     SAGE_463.03chr14:
21896125-21896125
GAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.C1504T
c.C667T
p.R502C
p.R223C
15.874.141E-5Wang2020 T
CHD8     ACGC_GX0664.p1chr14:
21854259-21854259
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G7259A
c.G6422A
p.R2420H
p.R2141H
19.013.614E-5Wang2020 T
CHD8     ACGC_GD0104.p1chr14:
21862460-21862460
GAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.C5575T
c.C4738T
p.R1859C
p.R1580C
21.5-Wang2020 T
CHD8     ACGC_ZJ0001.p1chr14:
21868455-21868459
GGATAGexonicUnknownframeshift deletionNM_001170629
NM_020920
c.4578_4581del
c.3741_3744del
p.S1526fs
p.S1247fs
--Wang2020 T
CHD8     211-5215-3chr14:
21854259-21854259
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G7259A
c.G6422A
p.R2420H
p.R2141H
19.013.614E-5Stessman2017 T
CHD8     TASC_220-9823-203chr14:
21876489-21876489
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G2712A
c.G1875A
p.M904I
p.M625I
18.24-Wang2020 T
CHD8     Greenwood_11827chr14:
21871793-21871793
GAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.C3337T
c.C2500T
p.R1113C
p.R834C
17.241.651E-5Wang2020 T
CHD8     Gecz3_35861chr14:
21862552-21862552
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G5483A
c.G4646A
p.R1828H
p.R1549H
22.42.0E-4Wang2020 T
CHD8     ACGC_SD0301.p1chr14:
21876980-21876980
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G2369A
c.G1532A
p.R790H
p.R511H
29.26.435E-5Wang2020 T
CHD8     SAGE_BK_668_01chr14:
21862552-21862552
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G5483A
c.G4646A
p.R1828H
p.R1549H
22.42.0E-4Wang2020 T
CHD8     Gecz3_39891chr14:
21862552-21862552
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G5483A
c.G4646A
p.R1828H
p.R1549H
22.42.0E-4Wang2020 T
CHD8     M14983chr14:
21860964-21860964
CTexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.G6473A
c.G5636A
p.R2158H
p.R1879H
23.42.0E-4Wang2016 T
CHD8     ACGC_SX0102.p1chr14:
21863239-21863239
GAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.C5222T
c.C4385T
p.P1741L
p.P1462L
23.44.282E-5Wang2020 T
CHD8     M21642chr14:
21860704-21860704
CTexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.G6733A
c.G5896A
p.G2245S
p.G1966S
15.818.283E-6Guo2018 T
Wang2016 T
CHD8     Iowa_173_1_a.2.1chr14:
21868737-21868737
GAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.C4405T
c.C3568T
p.R1469C
p.R1190C
18.598.524E-6Wang2020 T
CHD8     Gecz4_48375chr14:
21876980-21876980
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G2369A
c.G1532A
p.R790H
p.R511H
29.26.435E-5Wang2020 T
CHD8     Gecz4_47084chr14:
21876980-21876980
CTexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G2369A
c.G1532A
p.R790H
p.R511H
29.26.435E-5Wang2020 T
CHD8     M1593chr14:
21854250-21854250
CTexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.G7268A
c.G6431A
p.R2423Q
p.R2144Q
14.676.326E-5Wang2016 T
CHD8     M4343chr14:
21861785-21861785
TCexonicPaternalnonsynonymous SNVNM_001170629
NM_020920
c.A6169G
c.A5332G
p.S2057G
p.S1778G
13.34-Wang2016 T
CHD8     Leuven2_63658470chr14:
21876470-21876470
CTsplicingUnknownsplicing17.97-Wang2020 T
CHD8     Hu2022:14chr14:
21871817-21871818
CACexonicDe novoframeshift deletionNM_001170629
NM_020920
c.3312delT
c.2475delT
p.A1104fs
p.A825fs
--Hu2022 T
CHD8     GX0155.p1chr14:
21860027-21860027
GTexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.C6850A
c.C6013A
p.H2284N
p.H2005N
14.624.974E-5Guo2018 T
CHD8     GX0222.p1chr14:
21854320-21854320
TAexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.A7198T
c.A6361T
p.T2400S
p.T2121S
2.469-Guo2018 T
CHD8     GX0249.p1chr14:
21865992-21865992
TCexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.A5041G
c.A4204G
p.I1681V
p.I1402V
9.2163.538E-5Guo2018 T
CHD8     GX0259.p1chr14:
21861401-21861401
CTexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.G6332A
c.G5495A
p.R2111H
p.R1832H
1.635.798E-5Guo2018 T
CHD8     GX0456.p1chr14:
21853857-21853857
TAexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.A7661T
c.A6824T
p.Y2554F
p.Y2275F
14.55-Guo2018 T
CHD8     GX0275.p1chr14:
21871364-21871364
AGexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.T3526C
c.T2689C
p.Y1176H
p.Y897H
19.38-Guo2018 T
CHD8     GX0476.p1chr14:
21870505-21870505
TCexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.A3872G
c.A3035G
p.N1291S
p.N1012S
4.8342.484E-5Guo2018 T
CHD8     GX0523.p1chr14:
21896314-21896314
GAexonicMaternalnonsynonymous SNVNM_001170629
NM_020920
c.C1315T
c.C478T
p.H439Y
p.H160Y
16.854.14E-5Guo2018 T
CHD8     Ishay2021:10chr14:
21871807-21871807
AATexonicDe novoframeshift insertionNM_001170629
NM_020920
c.3322dupA
c.2485dupA
p.I1108fs
p.I829fs
--Ishay2021 E
CHD8     M12452chr14:
21854308-21854308
GAexonicUnknown, Paternalnonsynonymous SNVNM_001170629
NM_020920
c.C7210T
c.C6373T
p.R2404W
p.R2125W
17.68-Guo2018 T
Stessman2017 T
Wang2016 T
CHD8     GX0125.p1chr14:
21876490-21876490
ACexonicDe novononsynonymous SNVNM_001170629
NM_020920
c.T2711G
c.T1874G
p.M904R
p.M625R
23.0-Guo2018 T
CHD8     Naples_7770chr14:
21864026-21864026
CAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G5077T
c.G4240T
p.D1693Y
p.D1414Y
25.4-Wang2020 T
CHD8     Leuven_115449chr14:
21882503-21882503
CAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.G2099T
c.G1262T
p.R700L
p.R421L
31.0-Wang2020 T
CHD8     12752.p1chr14:
21861376-21861378
ACTAexonicDe novoframeshift deletionNM_001170629
NM_020920
c.6355_6356del
c.5518_5519del
p.S2119fs
p.S1840fs
--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
CHD8     Leuven2_63097364chr14:
21881070-21881070
AGsplicingUnknownsplicing18.71-Wang2020 T
CHD8     SanDiego_00578-N6P7Dchr14:
21862289-21862289
GAexonicUnknownnonsynonymous SNVNM_001170629
NM_020920
c.C5665T
c.C4828T
p.R1889C
p.R1610C
17.432.0E-4Wang2020 T