or
or
Exact

Results for "DSCAM"

Variant Events: 201

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--Yuen2017 G
DSCAM     AU026412chr21:
41711621-41711621		AGintronicDe novo--Yuen2017 G
DSCAM     86278637chr21:
41446993-41446993		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G4859A
c.G4859A		p.R1620Q
p.R1620Q		34.08.309E-6Wang2020 T
DSCAM     345299chr21:
41423968-41423968		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5102T
c.C5102T		p.T1701M
p.T1701M		22.71.0E-4Wang2020 T
Wang2020 T
DSCAM     13579.p1chr21:
41496072-41496072		GAintronicDe novo--Satterstrom2020 E
DSCAM     AU2381302chr21:
42295777-42295777		CGintergenicDe novo--Yuen2017 G
DSCAM     1-0404-003chr21:
42144484-42144484		TCintronicDe novo--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     62732375chr21:
41447003-41447003		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C4849T
c.C4849T		p.R1617W
p.R1617W		19.571.659E-5Wang2020 T
DSCAM     M19708chr21:
41414453-41414453		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5531T
c.C5531T		p.S1844L
p.S1844L		26.34.968E-5Wang2020 T
DSCAM     ASD.1340chr21:
41423896-41423896		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G5174A
c.G5174A		p.R1725Q
p.R1725Q		36.02.493E-5Wang2020 T
DSCAM     M01903 Complex Event; expand row to view variants  Maternalnonsynonymous SNVNM_001271534
NM_001389		c.G1009A
c.G1009A		p.V337M
p.V337M		26.01.657E-5Guo2018 T
Wang2020 T
Wang2020 T
DSCAM     M01773chr21:
41684041-41684041		CC/TexonicMaternal--Guo2018 T
DSCAM     AU1698302chr21:
41623751-41623751		CTintronicDe novo--Yuen2017 G
DSCAM     7589chr21:
41427670-41427670		CGexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G5017C
c.G5017C		p.D1673H
p.D1673H		22.9-Wang2020 T
Wang2020 T
DSCAM     D1.11.08802chr21:
41450631-41450631		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C4694T
c.C4694T		p.T1565M
p.T1565M		21.48.348E-6Wang2020 T
DSCAM     AU1955302chr21:
42399713-42399713		CAintergenicDe novo--Yuen2017 G
DSCAM     BK_690.01chr21:
41684167-41684167		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C1903T
c.C1903T		p.R635W
p.R635W		20.63.0E-4Wang2020 T
DSCAM     AU1955302chr21:
42399750-42399750		GCintergenicDe novo--Yuen2017 G
DSCAM     84306752chr21:
41450631-41450631		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C4694T
c.C4694T		p.T1565M
p.T1565M		21.48.348E-6Wang2020 T
Wang2020 T
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     2-1521-003chr21:
42393025-42393034		AAGAGAGAGAAAGAGAGAintergenicDe novo--Yuen2017 G
DSCAM     2-1356-003chr21:
42075468-42075483		CCACACACACACACACCCACACACACACACintronicDe novo--Yuen2017 G
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
DSCAM     AU3853302chr21:
41489973-41489975		GAAGAintronicDe novo--Yuen2017 G
DSCAM     12329.p1chr21:
41457527-41457527		ATsplicingDe novosplicing22.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
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
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		CTexonicMaternal, Unknownnonsynonymous SNVNM_001271534
NM_001389		c.G5681A
c.G5681A		p.R1894Q
p.R1894Q		35.0-Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 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--Yuen2017 G
DSCAM     2-1288-003chr21:
41542779-41542779		CTintronicDe novo--Yuen2017 G
DSCAM     AU2140306chr21:
42345900-42345900		CTintergenicDe novo--Yuen2017 G
DSCAM     AU2000302chr21:
42502694-42502694		GCintergenicDe novo--Yuen2017 G
DSCAM     1-0138-003chr21:
41589460-41589460		ACintronicDe novo--Yuen2017 G
DSCAM     1-0323-003chr21:
41965911-41965911		GAintronicDe novo--Yuen2017 G
DSCAM     AU2000302chr21:
42496629-42496629		GCintergenicDe novo--Yuen2017 G
DSCAM     AU075210chr21:
41417986-41417986		CTintronicDe novo--Yuen2017 G
DSCAM     1-0099-003chr21:
41964219-41964219		CAintronicDe novo--Yuen2017 G
DSCAM     M14989chr21:
41452148-41452148		GCexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C4351G
c.C4351G		p.L1451V
p.L1451V		10.79-Guo2018 T
Wang2016 T
DSCAM     BK823-01chr21:
41423896-41423896		CTexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.G5174A
c.G5174A		p.R1725Q
p.R1725Q		36.02.493E-5Wang2020 T
Wang2020 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--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     ASD1340chr21:
41423896-41423896		CTexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.G5174A
c.G5174A		p.R1725Q
p.R1725Q		36.02.493E-5Wang2020 T
DSCAM     AU3768302chr21:
41552537-41552537		GAintronicDe novo--Yuen2017 G
DSCAM     AU4145303chr21:
41820503-41820511		TAATCAATCTAATCintronicDe novo--Yuen2017 G
DSCAM     1-0330-004chr21:
41876119-41876120		AGAintronicDe novo--Yuen2017 G
DSCAM     1-0224-004chr21:
42002711-42002711		CTintronicDe novo--Yuen2017 G
DSCAM     M10003chr21:
41416053-41416053		CGexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.G5335C
c.G5335C		p.V1779L
p.V1779L		18.23-Guo2018 T
Wang2016 T
DSCAM     61435632chr21:
42064832-42064832		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G412A
c.G412A		p.G138S
p.G138S		36.0-Wang2020 T
Wang2020 T
DSCAM     00672-Q2E7Schr21:
41450821-41450821		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G4504A
c.G4504A		p.G1502S
p.G1502S		25.8-Wang2020 T
Wang2020 T
DSCAM     S7J3Dchr21:
41719645-41719645		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C1162T
c.C1162T		p.R388C
p.R388C		18.498.28E-6Stessman2017 T
Wang2020 T
DSCAM     1-0224-004chr21:
42018619-42018619		TCintronicDe novo--Yuen2017 G
DSCAM     2-0299-003chr21:
42054431-42054431		AAAGAGAGAAAGAGAGAGAGAAAGAGAGAAAGAGAGAGintronicDe novo--Yuen2017 G
DSCAM     AU070703chr21:
42050453-42050453		CTintronicDe novo--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
Wang2020 T
DSCAM     555.03chr21:
41414330-41414330		AATexonicDe novoframeshift insertionNM_001271534
NM_001389		c.5653dupA
c.5653dupA		p.M1885fs
p.M1885fs		--Wang2020 T
Wang2020 T
DSCAM     560.03chr21:
41457640-41457640		TTTAexonicDe novostopgainNM_001271534
NM_001389		c.4020_4021insTA
c.4020_4021insTA		p.N1341_G1342delinsX
p.N1341_G1342delinsX		--Wang2020 T
Wang2020 T
DSCAM     2-1407-003chr21:
42368727-42368727		GAintergenicDe novo--Yuen2016 G
Yuen2017 G
DSCAM     1-0323-004chr21:
41881073-41881073		TCintronicDe novo--Yuen2017 G
DSCAM     M01613chr21:
41414439-41414439		CC/TexonicPaternal--Guo2018 T
DSCAM     320877chr21:
41559142-41559142		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C2695T
c.C2695T		p.R899C
p.R899C		19.681.659E-5Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     14686.p1chr21:
41550837-41550837		CTintronicMosaic-8.356E-6Dou2017 E
DSCAM     M08698chr21:
41741119-41741119		TCexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.A562G
c.A562G		p.N188D
p.N188D		17.36-Guo2018 T
DSCAM     M12365chr21:
41725605-41725605		GAexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.C721T
c.C721T		p.R241C
p.R241C		20.4-Guo2018 T
DSCAM     M19682chr21:
41446993-41446993		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G4859A
c.G4859A		p.R1620Q
p.R1620Q		34.08.309E-6Guo2018 T
Wang2016 T
Wang2020 T
DSCAM     M08473chr21:
41684227-41684227		TCexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.A1843G
c.A1843G		p.I615V
p.I615V		10.16-Guo2018 T
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     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     AU084Achr21:
41648022-41648022		ACsplicingDe novosplicing27.3-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
DSCAM     2-1334-003chr21:
42077744-42077744		TCintronicDe novo--Yuen2016 G
Yuen2017 G
DSCAM     2-0198-004chr21:
41468580-41468580		ATintronicDe novo--Yuen2017 G
DSCAM     GX0542.p1chr21:
41447089-41447089		GAexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C4763T
c.C4763T		p.T1588M
p.T1588M		12.982.485E-5Guo2018 T
DSCAM     JS0029.p1chr21:
41385179-41385179		TCexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.A5767G
c.A5821G		p.T1923A
p.T1941A		6.569-Guo2018 T
DSCAM     61903563chr21:
41414303-41414303		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G5681A
c.G5681A		p.R1894Q
p.R1894Q		35.0-Wang2020 T
Wang2020 T
DSCAM     2-0270-003chr21:
41835112-41835115		CATTCintronicDe novo--Yuen2017 G
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     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     2-0225-004chr21:
41710273-41710278		ATGTTTAexonicDe novoframeshift deletionNM_001271534
NM_001389		c.1533_1537del
c.1533_1537del		p.K511fs
p.K511fs		--Wang2020 T
DSCAM     M13459chr21:
41505796-41505796		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C3547T
c.C3547T		p.R1183W
p.R1183W		20.98.611E-6Stessman2017 T
Wang2020 T
Wang2020 T
DSCAM     NDAR_INVRB928JBD_wes1chr21:
41496267-41496267		GCintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
DSCAM     1-0186-004chr21:
42013793-42013793		GAintronicDe novo--Yuen2017 G
DSCAM     AU061104chr21:
42171823-42171823		CGintronicDe novo--Yuen2017 G
DSCAM     M31817chr21:
41385260-41385260		CTsplicing;exonicMaternalnonsynonymous SNVNM_001389c.G5740Ap.G1914S13.27-Guo2018 T
Wang2020 T
Wang2020 T
DSCAM     BK_690_01chr21:
41684167-41684167		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C1903T
c.C1903T		p.R635W
p.R635W		20.63.0E-4Wang2020 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     00318-H5U8Zchr21:
41725476-41725476		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C850T
c.C850T		p.R284C
p.R284C		22.61.658E-5Wang2020 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--Yuen2017 G
DSCAM     M15191chr21:
41452079-41452079		CAexonicMaternal, UnknownstopgainNM_001271534
NM_001389		c.G4420T
c.G4420T		p.E1474X
p.E1474X		39.08.532E-6Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 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     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     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     13812.p1chr21:
42005641-42005641		TCintronicDe novo--Wilfert2021 G
DSCAM     2-1358-003chr21:
41718168-41718168		TCintronicDe novo--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
Wang2020 T
Wang2020 T
DSCAM     5-0131-003chr21:
41639913-41639913		TTATACAAintronicDe novo--Yuen2017 G
DSCAM     M08781chr21:
41741085-41741085		GAexonicPaternal, Unknownnonsynonymous SNVNM_001271534
NM_001389		c.C596T
c.C596T		p.T199M
p.T199M		31.01.66E-5Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     1-0162-004chr21:
41626417-41626417		TGintronicDe novo--Yuen2017 G
DSCAM     5-0131-003chr21:
42300733-42300733		GAintergenicDe novo--Yuen2017 G
DSCAM     26513chr21:
41452079-41452079		CAexonicUnknownstopgainNM_001271534
NM_001389		c.G4420T
c.G4420T		p.E1474X
p.E1474X		39.08.532E-6Wang2020 T
DSCAM     SF0010765.p1chr21:
41711153-41711153		CAexonicDe novononsynonymous SNVNM_001271534
NM_001389		c.G1400T
c.G1400T		p.S467I
p.S467I		15.59-Wang2020 T
DSCAM     M8563chr21:
41719720-41719720		TCexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.A1087G
c.A1087G		p.T363A
p.T363A		11.341.656E-5Wang2016 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
Wang2020 T
Wang2020 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     SF0047472.p1chr21:
41561063-41561063		CTexonicDe novononsynonymous SNVNM_001271534
NM_001389		c.G2459A
c.G2459A		p.R820H
p.R820H		33.01.657E-5Wang2020 T
DSCAM     M8473chr21:
41684227-41684227		TCexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.A1843G
c.A1843G		p.I615V
p.I615V		10.16-Wang2016 T
DSCAM     SF0045094.p1chr21:
41465761-41465761		TCexonicDe novononsynonymous SNVNM_001271534
NM_001389		c.A3737G
c.A3737G		p.Y1246C
p.Y1246C		16.68-Wang2020 T
DSCAM     AU4343302chr21:
41920657-41920657		AGintronicDe novo--Yuen2017 G
DSCAM     2-1272-003chr21:
41634541-41634541		TCintronicDe novo--Yuen2016 G
DSCAM     HEN0296.p1chr21:
41516424-41516424		CTexonicDe novononsynonymous SNVNM_001271534
NM_001389		c.G3253A
c.G3253A		p.E1085K
p.E1085K		24.5-Guo2018 T
Wang2020 T
Wang2020 T
DSCAM     AU4029301chr21:
41696048-41696048		AGintronicDe novo--Yuen2017 G
DSCAM     M30618chr21:
41457647-41457647		GCexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C4014G
c.C4014G		p.I1338M
p.I1338M		16.213.315E-5Guo2018 T
DSCAM     1-0541-004chr21:
42245711-42245711		GAintergenicDe novo--Yuen2017 G
DSCAM     M31833chr21:
41496134-41496134		GTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C3684A
c.C3684A		p.H1228Q
p.H1228Q		10.76-Guo2018 T
DSCAM     M32089chr21:
41457688-41457688		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G3973A
c.G3973A		p.G1325R
p.G1325R		18.561.67E-5Guo2018 T
DSCAM     2-1562-004chr21:
41903115-41903115		GTintronicDe novo--Yuen2017 G
DSCAM     2-1114-003chr21:
41915725-41915725		TCintronicDe novo--Yuen2017 G
DSCAM     M32047chr21:
41457637-41457637		CTexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G4024A
c.G4024A		p.G1342R
p.G1342R		33.01.657E-5Guo2018 T
Guo2018 T
Wang2020 T
Wang2020 T
DSCAM     HN0030.p1chr21:
41725407-41725407		GAexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C919T
c.C919T		p.R307C
p.R307C		18.03.0E-4Guo2018 T
DSCAM     AU4152303chr21:
41447865-41447865		CGintronicDe novo--Yuen2017 G
DSCAM     HN0125.p1chr21:
41514597-41514597		TCexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.A3294G
c.A3294G		p.I1098M
p.I1098M		12.35-Guo2018 T
DSCAM     M32047chr21:
41725626-41725626		GAexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C700T
c.C700T		p.R234C
p.R234C		20.6-Guo2018 T
Wang2020 T
Wang2020 T
DSCAM     M08674chr21:
41741085-41741085		GAexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.C596T
c.C596T		p.T199M
p.T199M		31.01.66E-5Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
DSCAM     M26806chr21:
41452080-41452080		TGexonicPaternal, Unknownnonsynonymous SNVNM_001271534
NM_001389		c.A4419C
c.A4419C		p.K1473N
p.K1473N		14.53-Guo2018 T
Wang2016 T
DSCAM     1-0552-003chr21:
42056287-42056287		GAintronicDe novo--Yuen2017 G
DSCAM     M11445chr21:
41711143-41711143		GTexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.C1410A
c.C1410A		p.N470K
p.N470K		14.28-Guo2018 T
Wang2016 T
DSCAM     SX0029.p1chr21:
41711265-41711265		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G1288A
c.G1288A		p.V430M
p.V430M		26.2-Wang2020 T
Wang2020 T
DSCAM     SD0126.p1chr21:
41414441-41414441		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5543T
c.C5543T		p.T1848M
p.T1848M		25.7-Wang2020 T
Wang2020 T
DSCAM     AU4246304chr21:
41616273-41616273		GAintronicDe novo--Yuen2017 G
DSCAM     213619chr21:
41450631-41450631		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C4694T
c.C4694T		p.T1565M
p.T1565M		21.48.348E-6Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     539.102chr21:
42064858-42064858		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G386A
c.G386A		p.R129H
p.R129H		29.4-Wang2020 T
Wang2020 T
DSCAM     5-0014-004chr21:
41509225-41509235		TATCATGAACCTintronicDe novo--Yuen2017 G
DSCAM     1-0252-003chr21:
41714177-41714179		CTACintronicDe novo--Yuen2017 G
DSCAM     HEN502.p1chr21:
41414304-41414304		GCexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5680G
c.C5680G		p.R1894G
p.R1894G		20.6-Wang2020 T
Wang2020 T
DSCAM     12163.p1chr21:
41684236-41684236		GAexonicMosaicnonsynonymous SNVNM_001271534
NM_001389		c.C1834T
c.C1834T		p.R612W
p.R612W		16.96-Dou2017 E
DSCAM     217-14152-2510chr21:
41424010-41424010		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5060T
c.C5060T		p.T1687M
p.T1687M		23.7-Wang2020 T
Wang2020 T
DSCAM     GD0053.p1chr21:
41516556-41516556		CAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G3121T
c.G3121T		p.D1041Y
p.D1041Y		17.858.281E-6Wang2020 T
Wang2020 T
DSCAM     ASDchr21:
41423896-41423896		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G5174A
c.G5174A		p.R1725Q
p.R1725Q		36.02.493E-5Wang2020 T
Wang2020 T
DSCAM     M15207chr21:
41414453-41414453		GAexonicUnknown, De novononsynonymous SNVNM_001271534
NM_001389		c.C5531T
c.C5531T		p.S1844L
p.S1844L		26.34.968E-5Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
DSCAM     2-0202-003chr21:
42220695-42220695		AGintergenicDe novo--Yuen2017 G
DSCAM     M30859chr21:
41719644-41719644		CAexonicPaternalnonsynonymous SNVNM_001271534
NM_001389		c.G1163T
c.G1163T		p.R388L
p.R388L		31.01.656E-5Guo2018 T
Guo2018 T
DSCAM     AU048204chr21:
41725398-41725398		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G928A
c.G928A		p.V310M
p.V310M		18.0-Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     GX0073.p1chr21:
41559844-41559844		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G2624A
c.G2624A		p.R875H
p.R875H		24.48.288E-6Wang2020 T
Wang2020 T
DSCAM     256274chr21:
41561064-41561064		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C2458T
c.C2458T		p.R820C
p.R820C		29.62.485E-5Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     AU1393304chr21:
41561021-41561021		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G2501A
c.G2501A		p.R834H
p.R834H		31.08.281E-5Wang2020 T
Wang2020 T
DSCAM     210-18149-301chr21:
41561064-41561064		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C2458T
c.C2458T		p.R820C
p.R820C		29.62.485E-5Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     AU080903chr21:
41561021-41561021		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G2501A
c.G2501A		p.R834H
p.R834H		31.08.281E-5Wang2020 T
Wang2020 T
DSCAM     03C16451chr21:
41725398-41725398		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G928A
c.G928A		p.V310M
p.V310M		18.0-Wang2020 T
Wang2020 T
DSCAM     AU4412302chr21:
41566221-41566221		TCintronicDe novo--Yuen2017 G
DSCAM     AU023603chr21:
41668075-41668075		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C2089T
c.C2089T		p.R697W
p.R697W		18.223.319E-5Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     M27851chr21:
41719739-41719740		AGAexonicDe novoframeshift deletionNM_001271534
NM_001389		c.1067delC
c.1067delC		p.P356fs
p.P356fs		--Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
DSCAM     4253chr21:
41668075-41668075		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C2089T
c.C2089T		p.R697W
p.R697W		18.223.319E-5Wang2020 T
Wang2020 T
DSCAM     128247chr21:
41424029-41424029		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5041T
c.C5041T		p.R1681C
p.R1681C		21.92.492E-5Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     AU023604chr21:
41668075-41668075		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C2089T
c.C2089T		p.R697W
p.R697W		18.223.319E-5Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     390133chr21:
41424029-41424029		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5041T
c.C5041T		p.R1681C
p.R1681C		21.92.492E-5Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     368248chr21:
41424029-41424029		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C5041T
c.C5041T		p.R1681C
p.R1681C		21.92.492E-5Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     AU048203chr21:
41725398-41725398		CTexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.G928A
c.G928A		p.V310M
p.V310M		18.0-Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     2-1292-004chr21:
42442962-42442962		GGCACintergenicDe novo--Yuen2017 G
DSCAM     1-0169-003chr21:
42366631-42366631		GAintergenicDe novo--Yuen2017 G
DSCAM     HN0193.p1chr21:
41725476-41725476		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C850T
c.C850T		p.R284C
p.R284C		22.61.658E-5Wang2020 T
DSCAM     AU071804chr21:
42459976-42459976		GAintergenicDe novo--Yuen2017 G
DSCAM     M10051chr21:
41414459-41414459		GAexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.C5525T
c.C5525T		p.T1842M
p.T1842M		21.1-Guo2018 T
Wang2016 T
DSCAM     M15242chr21:
41514571-41514571		AGexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.T3320C
c.T3320C		p.I1107T
p.I1107T		18.38.281E-6Guo2018 T
Wang2016 T
DSCAM     05C48104chr21:
41414303-41414303		CTexonicMaternal, Unknownnonsynonymous SNVNM_001271534
NM_001389		c.G5681A
c.G5681A		p.R1894Q
p.R1894Q		35.0-Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
DSCAM     AU4273304chr21:
41881902-41881902		TAintronicDe novo--Yuen2017 G
DSCAM     2-0028-003chr21:
41697846-41697846		CGintronicDe novo--Yuen2016 G
Yuen2017 G
DSCAM     1-0585-003chr21:
41924638-41924638		TGintronicDe novo--Yuen2017 G
DSCAM     AU4468301chr21:
42106674-42106678		TAATATAATAAATAintronicDe novo--Yuen2017 G
DSCAM     2-0238-004chr21:
42287288-42287288		GAintergenicDe novo--Yuen2017 G
Source Variant Information

, -

Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
More

VariCarta Copyright © 2016-2020 Contact Us