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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		CTexonicDe novo, Unknownnonsynonymous 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		CTexonicDe novo, Unknownnonsynonymous 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		AGexonicDe novo, Unknownnonsynonymous 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  De novo, Unknownsynonymous SNV, nonframeshift deletionNM_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		GAexonicPaternal, Unknownnonsynonymous 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