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Results for "DSCAM"

Variant Events: 288

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
DSCAM     2-0109-003chr21:
41522481-41522481		CTintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     AU026412chr21:
41711621-41711621		AGintronicDe novo--Yuen2017 G
DSCAM     12329_p1chr21:
41457527-41457527		ATsplicingDe novosplicing22.0-Fu2022 E
DSCAM     36967chr21:
41457640-41457640		TTTAexonicDe novostopgainNM_001271534
NM_001389		c.4020_4021insTA
c.4020_4021insTA		p.N1341_G1342delinsX
p.N1341_G1342delinsX		--Fu2022 E
Trost2022 G
DSCAM     13579.p1chr21:
41496072-41496072		GAintronicDe novo--Satterstrom2020 E
DSCAM     ACGC_M15207chr21:
41414453-41414453		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5531T
c.C5531T		p.S1844L
p.S1844L		26.34.968E-5Wang2020 T
DSCAM     35970chr21:
41414330-41414330		AATexonicDe novoframeshift insertionNM_001271534
NM_001389		c.5653dupA
c.5653dupA		p.M1885fs
p.M1885fs		--Fu2022 E
Trost2022 G
DSCAM     AU2381302chr21:
42295777-42295777		CGintergenicDe novo--Yuen2017 G
DSCAM     1-0404-003chr21:
42144484-42144484		TCintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     M08314chr21:
41550907-41550907		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G2894A
c.G2894A		p.R965Q
p.R965Q		15.438.282E-6Guo2018 T
DSCAM     AGRE_05C48104chr21:
41414303-41414303		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G5681A
c.G5681A		p.R1894Q
p.R1894Q		35.0-Wang2020 T
DSCAM     Leuven2_61903563chr21:
41414303-41414303		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G5681A
c.G5681A		p.R1894Q
p.R1894Q		35.0-Wang2020 T
DSCAM     AGRE_AU1350302chr21:
41414303-41414303		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G5681A
c.G5681A		p.R1894Q
p.R1894Q		35.0-Wang2020 T
DSCAM     Gecz1_26513chr21:
41452079-41452079		CAexonicUnknownstopgainNM_001271534
NM_001389		c.G4420T
c.G4420T		p.E1474X
p.E1474X		39.08.532E-6Wang2020 T
DSCAM     ACGC_M15191chr21:
41452079-41452079		CAexonicMaternalstopgainNM_001271534
NM_001389		c.G4420T
c.G4420T		p.E1474X
p.E1474X		39.08.532E-6Wang2020 T
DSCAM     M01903chr21:
41719798-41719798		CC/TexonicMaternal--Guo2018 T
DSCAM     M01773chr21:
41684041-41684041		CC/TexonicMaternal--Guo2018 T
DSCAM     Gecz4_48979chr21:
41452079-41452079		CAexonicUnknownstopgainNM_001271534
NM_001389		c.G4420T
c.G4420T		p.E1474X
p.E1474X		39.08.532E-6Wang2020 T
DSCAM     AU1698302chr21:
41623751-41623751		CTintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     AGRE_AU080903chr21:
41561021-41561021		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G2501A
c.G2501A		p.R834H
p.R834H		31.08.281E-5Wang2020 T
DSCAM     Gecz4_47842chr21:
41561021-41561021		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G2501A
c.G2501A		p.R834H
p.R834H		31.08.281E-5Wang2020 T
DSCAM     AU1955302chr21:
42399713-42399713		CAintergenicDe novo--Yuen2017 G
DSCAM     AGRE_AU1393304chr21:
41561021-41561021		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G2501A
c.G2501A		p.R834H
p.R834H		31.08.281E-5Wang2020 T
DSCAM     AU1955302chr21:
42399750-42399750		GCintergenicDe novo--Yuen2017 G
DSCAM     M23679chr21:
41539180-41539180		GAexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.C2983T
c.C2983T		p.P995S
p.P995S		18.974.971E-5Guo2018 T
Wang2016 T
DSCAM     ACGC_M27851chr21:
41719739-41719740		AGAexonicDe novoframeshift deletionNM_001271534
NM_001389		c.1067delC
c.1067delC		p.P356fs
p.P356fs		--Wang2020 T
DSCAM     2-1521-003chr21:
42393025-42393034		AAGAGAGAGAAAGAGAGAintergenicDe novo--Yuen2017 G
DSCAM     2-1356-003chr21:
42075468-42075483		CCACACACACACACACCCACACACACACACintronicDe novo--Yuen2017 G
DSCAM     ACGC_M17551chr21:
41446967-41446967		GAexonicDe novostopgainNM_001271534
NM_001389		c.C4885T
c.C4885T		p.R1629X
p.R1629X		41.0-Wang2020 T
DSCAM     ACGC_HEN0296.p1chr21:
41516424-41516424		CTexonicDe novononsynonymous SNVNM_001271534
NM_001389		c.G3253A
c.G3253A		p.E1085K
p.E1085K		24.5-Wang2020 T
DSCAM     13735.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001271534
NM_001389
NM_001271534
NM_001389		c.5653dupA
c.5653dupA
c.5652dupA
c.5652dupA		p.M1885fs
p.M1885fs
p.M1885fs
p.M1885fs		--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Zhou2022 GE
DSCAM     AU3853302 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
DSCAM     12329.p1chr21:
41457527-41457527		ATsplicingDe novosplicing22.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wang2020 T
Wilfert2021 G
Zhou2022 GE
DSCAM     14597.p1 Complex Event; expand row to view variants  De novostopgain, frameshift insertionNM_001271534
NM_001389
NM_001271534
NM_001389		c.4020_4021insTA
c.4020_4021insTA
c.4019_4020insTA
c.4019_4020insTA		p.N1341_G1342delinsX
p.N1341_G1342delinsX
p.S1340fs
p.S1340fs		--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
DSCAM     AU3605303chr21:
41916432-41916435		CATACAintronicDe novo--Yuen2017 G
DSCAM     GX0447.p1chr21:
41719720-41719720		TCexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.A1087G
c.A1087G		p.T363A
p.T363A		11.341.656E-5Guo2018 T
DSCAM     GX0128.p1chr21:
41684085-41684085		AGexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.T1985C
c.T1985C		p.M662T
p.M662T		6.789-Guo2018 T
DSCAM     HN0097.p1chr21:
41725407-41725407		GAexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.C919T
c.C919T		p.R307C
p.R307C		18.03.0E-4Guo2018 T
DSCAM     M32128chr21:
41725407-41725407		GAexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.C919T
c.C919T		p.R307C
p.R307C		18.03.0E-4Guo2018 T
DSCAM     M30585chr21:
41514631-41514631		AGexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.T3260C
c.T3260C		p.V1087A
p.V1087A		18.11-Guo2018 T
DSCAM     AU1350302chr21:
41414303-41414303		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G5681A
c.G5681A		p.R1894Q
p.R1894Q		35.0-Stessman2017 T
DSCAM     HN0070.p1chr21:
41385122-41385125		CTTCCexonicPaternalnonframeshift deletionNM_001271534
NM_001389		c.5821_5823del
c.5875_5877del		p.1941_1941del
p.1959_1959del		--Guo2018 T
DSCAM     GX0512.p1chr21:
41725560-41725560		ATexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.T766A
c.T766A		p.Y256N
p.Y256N		22.48.312E-6Guo2018 T
DSCAM     2-1288-003chr21:
41813343-41813343		TCintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     SSC12309chr21:
41457640-41457640		TTTAexonicstopgainNM_001271534
NM_001389		c.4020_4021insTA
c.4020_4021insTA		p.N1341_G1342delinsX
p.N1341_G1342delinsX		--Antaki2022 GE
DSCAM     2-1288-003chr21:
41542779-41542779		CTintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     AU2140306chr21:
42345900-42345900		CTintergenicDe novo--Yuen2017 G
DSCAM     SSC04501chr21:
41457527-41457527		ATsplicingsplicing22.0-Antaki2022 GE
DSCAM     AU2000302chr21:
42502694-42502694		GCintergenicDe novo--Yuen2017 G
DSCAM     1-0138-003chr21:
41589460-41589460		ACintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     1-0323-003chr21:
41965911-41965911		GAintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     5-5098-003chr21:
41561011-41561011		CTexonicDe novosynonymous SNVNM_001271534
NM_001389		c.G2511A
c.G2511A		p.V837V
p.V837V		--Trost2022 G
Zhou2022 GE
DSCAM     AU2000302chr21:
42496629-42496629		GCintergenicDe novo--Yuen2017 G
DSCAM     AU075210chr21:
41417986-41417986		CTintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     1-0099-003chr21:
41964219-41964219		CAintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     2-0225-004chr21:
41710273-41710278		ATGTTTAexonicUnknownframeshift deletionNM_001271534
NM_001389		c.1533_1537del
c.1533_1537del		p.K511fs
p.K511fs		--Wang2020 T
DSCAM     M14989chr21:
41452148-41452148		GCexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C4351G
c.C4351G		p.L1451V
p.L1451V		10.79-Guo2018 T
Wang2016 T
DSCAM     M15105chr21:
41457647-41457647		GCexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C4014G
c.C4014G		p.I1338M
p.I1338M		16.213.315E-5Guo2018 T
Wang2016 T
DSCAM     5-0041-003chr21:
42134176-42134176		TCintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     5-0041-003chr21:
42310003-42310003		GCintergenicDe novo--Yuen2017 G
DSCAM     M17688chr21:
41457647-41457647		GCexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C4014G
c.C4014G		p.I1338M
p.I1338M		16.213.315E-5Guo2018 T
Wang2016 T
DSCAM     2-1632-003chr21:
42452300-42452300		CAintergenicDe novo--Yuen2017 G
DSCAM     AU3768302chr21:
41552537-41552537		GAintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     AU4145303 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
DSCAM     1-0330-004chr21:
41876119-41876120		AGAintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     1-0224-004chr21:
42002711-42002711		CTintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     ACGC_M01903chr21:
41719798-41719798		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G1009A
c.G1009A		p.V337M
p.V337M		26.01.657E-5Wang2020 T
DSCAM     ACGC_M32047chr21:
41457637-41457637		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G4024A
c.G4024A		p.G1342R
p.G1342R		33.01.657E-5Wang2020 T
DSCAM     M10003chr21:
41416053-41416053		CGexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.G5335C
c.G5335C		p.V1779L
p.V1779L		18.23-Guo2018 T
Wang2016 T
DSCAM     ACGC_M31817chr21:
41385260-41385260		CTsplicing;exonicMaternalnonsynonymous SNVNM_001389c.G5740Ap.G1914S13.27-Wang2020 T
DSCAM     ACGC_M32047chr21:
41725626-41725626		GAexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C700T
c.C700T		p.R234C
p.R234C		20.6-Wang2020 T
DSCAM     S7J3Dchr21:
41719645-41719645		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C1162T
c.C1162T		p.R388C
p.R388C		18.498.28E-6Stessman2017 T
DSCAM     1-0224-004chr21:
42018619-42018619		TCintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     2-0299-003chr21:
42054431-42054431		AAAGAGAGAAAGAGAGAGAGAAAGAGAGAAAGAGAGAGintronicDe novo--Yuen2017 G
DSCAM     AU070703chr21:
42050453-42050453		CTintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     M18334chr21:
41446993-41446993		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G4859A
c.G4859A		p.R1620Q
p.R1620Q		34.08.309E-6Guo2018 T
Wang2016 T
DSCAM     1-0628-004Achr21:
41483895-41483895		GAintronicDe novo--Trost2022 G
DSCAM     1-0633-003chr21:
41481396-41481396		ACintronicDe novo--Trost2022 G
DSCAM     4-0081-003chr21:
41461212-41461212		TAintronicDe novo--Trost2022 G
DSCAM     4-0062-003chr21:
41432250-41432252		TAGGACintronicDe novo--Trost2022 G
DSCAM     3-0409-000chr21:
41425728-41425728		GAintronicDe novo--Trost2022 G
DSCAM     AU2310301chr21:
41423707-41423707		AGintronicDe novo--Trost2022 G
DSCAM     MSSNG00014-003chr21:
41389865-41389865		ACintronicDe novo--Trost2022 G
DSCAM     2-1504-003chr21:
41670273-41670273		GGCintronicDe novo--Trost2022 G
DSCAM     7-0334-003chr21:
41655158-41655158		CTintronicDe novo--Trost2022 G
DSCAM     7-0337-004chr21:
41546858-41546858		GCintronicDe novo--Trost2022 G
DSCAM     2-1790-003chr21:
41543295-41543295		AGintronicDe novo--Trost2022 G
DSCAM     H3E8D_01chr21:
41517948-41517948		CTintronicDe novo--Trost2022 G
DSCAM     SJD_27.3chr21:
41510406-41510407		TGTintronicDe novo--Trost2022 G
DSCAM     2-1407-003chr21:
42368727-42368727		GAintergenicDe novo--Yuen2016 G
Yuen2017 G
DSCAM     1-0018-003chr21:
41507931-41507931		GAintronicDe novo--Trost2022 G
DSCAM     SSC08001chr21:
41496072-41496072		GAintronicDe novo--Trost2022 G
DSCAM     MSSNG00023-003chr21:
41840889-41840889		ATintronicDe novo--Trost2022 G
DSCAM     3-0610-000chr21:
41815942-41815942		TCintronicDe novo--Trost2022 G
DSCAM     3-0533-000chr21:
41799187-41799187		CTintronicDe novo--Trost2022 G
DSCAM     1-0838-003chr21:
41795656-41795656		GCintronicDe novo--Trost2022 G
DSCAM     3-0178-000chr21:
41720186-41720186		CGintronicDe novo--Trost2022 G
DSCAM     REACH000349chr21:
41720018-41720018		TCintronicDe novo--Trost2022 G
DSCAM     5-5146-004chr21:
41708908-41708908		TCintronicDe novo--Trost2022 G
DSCAM     7-0198-003chr21:
41673522-41673522		TTAGCCTTTATTACACTCATCTGGTACCACintronicDe novo--Trost2022 G
DSCAM     SF0010765.p1chr21:
41711153-41711153		CAexonicnonsynonymous SNVNM_001271534
NM_001389		c.G1400T
c.G1400T		p.S467I
p.S467I		15.59-Wang2020 T
DSCAM     5-5015-003chr21:
41883564-41883564		CAintronicDe novo--Trost2022 G
DSCAM     SF0047472.p1chr21:
41561063-41561063		CTexonicnonsynonymous SNVNM_001271534
NM_001389		c.G2459A
c.G2459A		p.R820H
p.R820H		33.01.657E-5Wang2020 T
DSCAM     7-0260-003chr21:
41880851-41880851		AGintronicDe novo--Trost2022 G
DSCAM     MSSNG00072-003chr21:
41880270-41880270		AGintronicDe novo--Trost2022 G
DSCAM     AU2698301chr21:
41875960-41875960		GTintronicDe novo--Trost2022 G
DSCAM     3-0346-000chr21:
41874593-41874593		TCintronicDe novo--Trost2022 G
DSCAM     REACH000327chr21:
41870020-41870020		GAintronicDe novo--Trost2022 G
DSCAM     1-0323-004chr21:
41881073-41881073		TCintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     SF0045094.p1chr21:
41465761-41465761		TCexonicnonsynonymous SNVNM_001271534
NM_001389		c.A3737G
c.A3737G		p.Y1246C
p.Y1246C		16.68-Wang2020 T
DSCAM     MSSNG00229-003chr21:
41853223-41853223		CTintronicDe novo--Trost2022 G
DSCAM     MSSNG00003-004chr21:
41847367-41847367		GCintronicDe novo--Trost2022 G
DSCAM     3-0454-000chr21:
41966754-41966754		GAintronicDe novo--Trost2022 G
DSCAM     1-0090-003chr21:
41959268-41959268		ATintronicDe novo--Trost2022 G
DSCAM     M01613chr21:
41414439-41414439		CC/TexonicPaternal--Guo2018 T
DSCAM     3-0544-000chr21:
41941862-41941862		GAintronicDe novo--Trost2022 G
DSCAM     AU2687301chr21:
41935409-41935409		TCintronicDe novo--Trost2022 G
DSCAM     MT_21.3chr21:
41931069-41931069		GCintronicDe novo--Trost2022 G
DSCAM     REACH000650chr21:
41922386-41922386		GCintronicDe novo--Trost2022 G
DSCAM     320877chr21:
41559142-41559142		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C2695T
c.C2695T		p.R899C
p.R899C		19.681.659E-5Stessman2017 T
DSCAM     MSSNG00348-003chr21:
41912161-41912161		TCintronicDe novo--Trost2022 G
DSCAM     14686.p1chr21:
41550837-41550837		CTintronicMosaic-8.356E-6Dou2017 E
DSCAM     MSSNG00390-003chr21:
41887931-41887931		TGintronicDe novo--Trost2022 G
DSCAM     M08698chr21:
41741119-41741119		TCexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.A562G
c.A562G		p.N188D
p.N188D		17.36-Guo2018 T
DSCAM     REACH000426chr21:
42100064-42100064		GAintronicDe novo--Trost2022 G
DSCAM     M12365chr21:
41725605-41725605		GAexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.C721T
c.C721T		p.R241C
p.R241C		20.4-Guo2018 T
DSCAM     MT_160.4chr21:
42084216-42084216		CTintronicDe novo--Trost2022 G
DSCAM     MSSNG00108-003chr21:
42054754-42054754		GAintronicDe novo--Trost2022 G
DSCAM     M19682chr21:
41446993-41446993		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G4859A
c.G4859A		p.R1620Q
p.R1620Q		34.08.309E-6Guo2018 T
Wang2016 T
DSCAM     MSSNG00019-003Achr21:
42054754-42054754		GAintronicDe novo--Trost2022 G
DSCAM     M08473chr21:
41684227-41684227		TCexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.A1843G
c.A1843G		p.I615V
p.I615V		10.16-Guo2018 T
DSCAM     REACH000626chr21:
42048639-42048639		TCintronicDe novo--Trost2022 G
DSCAM     2-1725-003chr21:
42003372-42003372		GAintronicDe novo--Yuen2017 G
DSCAM     M21662chr21:
41427654-41427654		AGexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.T5033C
c.T5033C		p.I1678T
p.I1678T		16.48-Guo2018 T
DSCAM     M08563chr21:
41719720-41719720		TCexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.A1087G
c.A1087G		p.T363A
p.T363A		11.341.656E-5Guo2018 T
DSCAM     AU2604301chr21:
41985424-41985426		CAACintronicDe novo--Trost2022 G
DSCAM     3-0430-000chr21:
42366300-42366300		CTintergenicDe novo--Yuen2016 G
DSCAM     M15179chr21:
41719627-41719627		CTexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.G1180A
c.G1180A		p.A394T
p.A394T		18.948.281E-6Guo2018 T
DSCAM     5-1012-004chr21:
41975120-41975120		TCintronicDe novo--Trost2022 G
DSCAM     1-1169-003chr21:
42189423-42189423		ACintronicDe novo--Trost2022 G
DSCAM     AU084Achr21:
41648022-41648022		ACsplicingUnknown, De novosplicing27.3-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
DSCAM     2-1334-003chr21:
42077744-42077744		TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DSCAM     MSSNG00341-004chr21:
42186950-42186950		AGintronicDe novo--Trost2022 G
DSCAM     5-5031-003chr21:
42173880-42173880		CAintronicDe novo--Trost2022 G
DSCAM     REACH000653chr21:
42171322-42171323		GAGintronicDe novo--Trost2022 G
DSCAM     2-0198-004chr21:
41468580-41468580		ATintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     MSSNG00044-004chr21:
42153586-42153586		TAintronicDe novo--Trost2022 G
DSCAM     5-5171-003chr21:
42107077-42107077		GAintronicDe novo--Trost2022 G
DSCAM     SP0081089chr21:
41447183-41447183		GAintronicDe novo-2.56E-5Fu2022 E
DSCAM     SP0010765chr21:
41711153-41711153		CAexonicDe novononsynonymous SNVNM_001271534
NM_001389		c.G1400T
c.G1400T		p.S467I
p.S467I		15.59-Fu2022 E
Trost2022 G
Zhou2022 GE
DSCAM     GX0542.p1chr21:
41447089-41447089		GAexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C4763T
c.C4763T		p.T1588M
p.T1588M		12.982.485E-5Guo2018 T
DSCAM     SP0127493chr21:
41514395-41514395		TGintronicDe novo--Fu2022 E
DSCAM     JS0029.p1chr21:
41385179-41385179		TCexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.A5767G
c.A5821G		p.T1923A
p.T1941A		6.569-Guo2018 T
DSCAM     SP0140612chr21:
41465623-41465623		TGintronicDe novo--Fu2022 E
DSCAM     2-0270-003chr21:
41835112-41835115		CATTCintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     SP0045094chr21:
41465761-41465761		TCexonicDe novononsynonymous SNVNM_001271534
NM_001389		c.A3737G
c.A3737G		p.Y1246C
p.Y1246C		16.68-Fu2022 E
Trost2022 G
Zhou2022 GE
DSCAM     SP0047472chr21:
41561063-41561063		CTexonicDe novononsynonymous SNVNM_001271534
NM_001389		c.G2459A
c.G2459A		p.R820H
p.R820H		33.01.657E-5Fu2022 E
Trost2022 G
Zhou2022 GE
DSCAM     HEN0021.p1chr21:
41725503-41725503		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G823A
c.G823A		p.V275M
p.V275M		16.137.466E-5Guo2018 T
DSCAM     HEN0114.p1chr21:
41551021-41551021		TCexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.A2780G
c.A2780G		p.D927G
p.D927G		14.11.663E-5Guo2018 T
DSCAM     JS0059.p1chr21:
41505922-41505922		TCexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.A3421G
c.A3421G		p.K1141E
p.K1141E		16.23-Guo2018 T
DSCAM     SP0096681chr21:
41516330-41516330		GCintronicDe novo--Fu2022 E
DSCAM     SX0019.p1chr21:
41719761-41719761		CC/TexonicMaternal--Guo2018 T
DSCAM     Mahjani2021:144chr21:
41447108-41447108		GAexonicstopgainNM_001271534
NM_001389		c.C4744T
c.C4744T		p.Q1582X
p.Q1582X		43.0-Mahjani2021 E
DSCAM     HEN0250.p1chr21:
41668000-41668000		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G2164A
c.G2164A		p.V722M
p.V722M		9.4344.978E-5Guo2018 T
DSCAM     Stessman2017:ASD_1340chr21:
41423896-41423896		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G5174A
c.G5174A		p.R1725Q
p.R1725Q		36.02.493E-5Stessman2017 T
DSCAM     M13459chr21:
41505796-41505796		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C3547T
c.C3547T		p.R1183W
p.R1183W		20.98.611E-6Stessman2017 T
DSCAM     NDAR_INVRB928JBD_wes1chr21:
41496267-41496267		GCintronicDe novo--Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
DSCAM     1-0186-004chr21:
42013793-42013793		GAintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     AU061104chr21:
42171823-42171823		CGintronicDe novo--Yuen2017 G
DSCAM     M31817chr21:
41385260-41385260		CTsplicing;exonicMaternalnonsynonymous SNVNM_001389c.G5740Ap.G1914S13.27-Guo2018 T
DSCAM     M13459chr21:
41465723-41465723		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G3775A
c.G3775A		p.V1259I
p.V1259I		12.723.0E-4Wang2016 T
DSCAM     M21615chr21:
41465723-41465723		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G3775A
c.G3775A		p.V1259I
p.V1259I		12.723.0E-4Wang2016 T
DSCAM     AU3716301chr21:
41396115-41396115		GAintronicDe novo--Yuen2017 G
DSCAM     M15242chr21:
41450679-41450679		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G4646A
c.G4646A		p.R1549Q
p.R1549Q		25.18.292E-6Guo2018 T
Wang2016 T
DSCAM     M8314chr21:
41550907-41550907		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G2894A
c.G2894A		p.R965Q
p.R965Q		15.438.282E-6Wang2016 T
DSCAM     PN400385chr21:
41414453-41414453		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5531T
c.C5531T		p.S1844L
p.S1844L		26.34.968E-5Leblond2019 E
DSCAM     1-0282-003chr21:
41873131-41873134		ATATAintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     M15191chr21:
41452079-41452079		CAexonicMaternalstopgainNM_001271534
NM_001389		c.G4420T
c.G4420T		p.E1474X
p.E1474X		39.08.532E-6Guo2018 T
Wang2016 T
DSCAM     M17542chr21:
41514487-41514487		CAexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G3404T
c.G3404T		p.G1135V
p.G1135V		25.6-Guo2018 T
Wang2016 T
DSCAM     5-0084-003chr21:
42306275-42306275		GAintergenicDe novo--Yuen2017 G
DSCAM     JS0074.p1chr21:
41719669-41719669		CTexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.G1138A
c.G1138A		p.G380R
p.G380R		11.45-Guo2018 T
DSCAM     M32733chr21:
41684059-41684059		CTexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.G2011A
c.G2011A		p.A671T
p.A671T		20.3-Guo2018 T
DSCAM     M19636chr21:
41719630-41719630		ACexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.T1177G
c.T1177G		p.S393A
p.S393A		19.428.281E-6Guo2018 T
Wang2016 T
DSCAM     2-0198-005chr21:
41468580-41468580		ATintronicDe novo--Yuen2017 G
DSCAM     HEN0273.p1chr21:
41385089-41385089		ACexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.T5857G
c.T5911G		p.L1953V
p.L1971V		14.01-Guo2018 T
DSCAM     SAGE_BK823-01chr21:
41423896-41423896		CTexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.G5174A
c.G5174A		p.R1725Q
p.R1725Q		36.02.493E-5Wang2020 T
DSCAM     HEN0243.p1chr21:
41550907-41550907		CTexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.G2894A
c.G2894A		p.R965Q
p.R965Q		15.438.282E-6Guo2018 T
DSCAM     AU1988301chr21:
42306617-42306617		ACintergenicDe novo--Yuen2017 G
DSCAM     SD0085.p1chr21:
41427654-41427654		AGexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.T5033C
c.T5033C		p.I1678T
p.I1678T		16.48-Guo2018 T
DSCAM     Melbourne2_ASD_1340chr21:
41423896-41423896		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G5174A
c.G5174A		p.R1725Q
p.R1725Q		36.02.493E-5Wang2020 T
DSCAM     M17452chr21:
41385061-41385061		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G5885A
c.G5939A		p.G1962E
p.G1980E		14.92-Wang2016 T
DSCAM     14228.p1chr21:
41467503-41467503		GAintronicDe novo--Wilfert2021 G
DSCAM     M17574chr21:
41450767-41450767		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G4558A
c.G4558A		p.V1520I
p.V1520I		13.17-Wang2016 T
DSCAM     ACGC_M08781chr21:
41741085-41741085		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C596T
c.C596T		p.T199M
p.T199M		31.01.66E-5Wang2020 T
DSCAM     13812.p1chr21:
42005641-42005641		TCintronicDe novo--Wilfert2021 G
DSCAM     ACGC_M08674chr21:
41741085-41741085		GAexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.C596T
c.C596T		p.T199M
p.T199M		31.01.66E-5Wang2020 T
DSCAM     2-1358-003chr21:
41718168-41718168		TCintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     211-5257-3chr21:
41423956-41423956		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5114T
c.C5114T		p.T1705M
p.T1705M		23.13.313E-5Stessman2017 T
DSCAM     5-0131-003chr21:
41639913-41639913		TTATACAAintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     M08781chr21:
41741085-41741085		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C596T
c.C596T		p.T199M
p.T199M		31.01.66E-5Guo2018 T
Wang2016 T
DSCAM     1-0162-004chr21:
41626417-41626417		TGintronicDe novo--Yuen2017 G
DSCAM     SAGE_560.03chr21:
41457640-41457640		TTTAexonicDe novostopgainNM_001271534
NM_001389		c.4020_4021insTA
c.4020_4021insTA		p.N1341_G1342delinsX
p.N1341_G1342delinsX		--Wang2020 T
DSCAM     5-0131-003chr21:
42300733-42300733		GAintergenicDe novo--Yuen2017 G
DSCAM     SAGE_555.03chr21:
41414330-41414330		AATexonicDe novoframeshift insertionNM_001271534
NM_001389		c.5653dupA
c.5653dupA		p.M1885fs
p.M1885fs		--Wang2020 T
DSCAM     TASC_217-14152-2510chr21:
41424010-41424010		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5060T
c.C5060T		p.T1687M
p.T1687M		23.7-Wang2020 T
DSCAM     ACGC_HEN502.p1chr21:
41414304-41414304		GCexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5680G
c.C5680G		p.R1894G
p.R1894G		20.6-Wang2020 T
DSCAM     Naples_7589chr21:
41427670-41427670		CGexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G5017C
c.G5017C		p.D1673H
p.D1673H		22.9-Wang2020 T
DSCAM     Leuven_320877chr21:
41559142-41559142		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C2695T
c.C2695T		p.R899C
p.R899C		19.681.659E-5Wang2020 T
DSCAM     Leuven_345299chr21:
41423968-41423968		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5102T
c.C5102T		p.T1701M
p.T1701M		22.71.0E-4Wang2020 T
DSCAM     TASC_211-5257-3chr21:
41423956-41423956		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5114T
c.C5114T		p.T1705M
p.T1705M		23.13.313E-5Wang2020 T
DSCAM     SAGE_BK_690_01chr21:
41684167-41684167		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C1903T
c.C1903T		p.R635W
p.R635W		20.63.0E-4Wang2020 T
DSCAM     M8563chr21:
41719720-41719720		TCexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.A1087G
c.A1087G		p.T363A
p.T363A		11.341.656E-5Wang2016 T
DSCAM     ACGC_SX0029.p1chr21:
41711265-41711265		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G1288A
c.G1288A		p.V430M
p.V430M		26.2-Wang2020 T
DSCAM     M17551chr21:
41446967-41446967		GAexonicDe novostopgainNM_001271534
NM_001389		c.C4885T
c.C4885T		p.R1629X
p.R1629X		41.0-Guo2018 T
Stessman2017 T
Stessman2017 T
Wang2016 T
DSCAM     M12516chr21:
42080494-42080494		TCexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.A247G
c.A247G		p.I83V
p.I83V		20.5-Guo2018 T
Wang2016 T
DSCAM     ACGC_SD0126.p1chr21:
41414441-41414441		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5543T
c.C5543T		p.T1848M
p.T1848M		25.7-Wang2020 T
DSCAM     Leuven2_62732375chr21:
41447003-41447003		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C4849T
c.C4849T		p.R1617W
p.R1617W		19.571.659E-5Wang2020 T
DSCAM     M8473chr21:
41684227-41684227		TCexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.A1843G
c.A1843G		p.I615V
p.I615V		10.16-Wang2016 T
DSCAM     SAGE_539.102chr21:
42064858-42064858		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G386A
c.G386A		p.R129H
p.R129H		29.4-Wang2020 T
DSCAM     AU4343302chr21:
41920657-41920657		AGintronicDe novo--Trost2022 G
Yuen2017 G
DSCAM     Leuven2_60887638chr21:
41414597-41414597		CAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G5387T
c.G5387T		p.R1796L
p.R1796L		23.5-Wang2020 T
DSCAM     2-1272-003chr21:
41634541-41634541		TCintronicDe novo--Yuen2016 G
DSCAM     Gecz4_49862chr21:
41414597-41414597		CAexonic