or
or
Exact

Results for "Codina-Sola2015"

Variant Events: 121

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
FBXO39     Codina-Sola2015:ASD_1chr17:
6690276-6690276		GAsplicingUnknownsplicing9.228-Codina-Sola2015 E
FFAR1     Codina-Sola2015:ASD_1chr19:
35842824-35842825		TGTexonicPaternalframeshift deletionNM_005303c.371delGp.W124fs--Codina-Sola2015 E
SYNGAP1     Codina-Sola2015:ASD_3chr6:
33391308-33391308		GAexonicMaternalnonsynonymous SNVNM_006772c.G122Ap.R41H16.778.236E-6Codina-Sola2015 E
RTN3     Codina-Sola2015:ASD_4chr11:
63486837-63486837		CCAGexonicMaternalframeshift insertionNM_001265590
NM_201428
NM_001265589		c.527_528insAG
c.806_807insAG
c.863_864insAG		p.S176fs
p.S269fs
p.S288fs		--Codina-Sola2015 E
CDKL5     Codina-Sola2015:ASD_1chrX:
18622984-18622984		CTexonicMaternalnonsynonymous SNVNM_003159
NM_001037343		c.C1940T
c.C1940T		p.P647L
p.P647L		22.6-Codina-Sola2015 E
BCAS3     Codina-Sola2015:ASD_3chr17:
59469424-59469424		CTexonicPaternalstopgainNM_017679
NM_001099432		c.C2680T
c.C2725T		p.R894X
p.R909X		37.02.494E-5Codina-Sola2015 E
DYNAP     Codina-Sola2015:ASD_5chr18:
52265374-52265374		TCexonicPaternalstoplossNM_001307955
NM_173629		c.T475C
c.T631C		p.X159Q
p.X211Q		0.582.609E-5Codina-Sola2015 E
MYBPC2     Codina-Sola2015:ASD_5chr19:
50963307-50963308		GCGexonicMaternalframeshift deletionNM_004533c.2803delCp.P935fs-9.0E-4Codina-Sola2015 E
C2orf70     Codina-Sola2015:ASD_4chr2:
26800435-26800435		CTexonicPaternalstopgainNM_001105519c.C400Tp.R134X15.182.485E-5Codina-Sola2015 E
TYW3     Codina-Sola2015:ASD_5chr1:
75229705-75229705		CTexonicMaternalstopgainNM_001162916
NM_138467		c.C589T
c.C688T		p.Q197X
p.Q230X		12.88.306E-6Codina-Sola2015 E
MEGF11     Codina-Sola2015:ASD_7chr15:
66210326-66210326		CTexonicMaternalstopgainNM_032445c.G2064Ap.W688X40.0-Codina-Sola2015 E
RBFOX1     Codina-Sola2015:ASD_7chr16:
7102079-7102079		TGexonicMaternalnonsynonymous SNVNM_001142334
NM_001142333
NM_001308117
NM_018723		c.T7G
c.T7G
c.T136G
c.T7G		p.C3G
p.C3G
p.C46G
p.C3G		12.03-Codina-Sola2015 E
SCN2A     Codina-Sola2015:ASD_5chr2:
166179741-166179741		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C1747T
c.C1747T
c.C1747T		p.R583X
p.R583X
p.R583X		39.0-Codina-Sola2015 E
ZCCHC7     Codina-Sola2015:ASD_5chr9:
37304308-37304308		CTexonicPaternalstopgainNM_001289119
NM_001289120
NM_001289121
NM_032226		c.C778T
c.C778T
c.C778T
c.C778T		p.R260X
p.R260X
p.R260X
p.R260X		20.78.286E-6Codina-Sola2015 E
VN1R10P   Codina-Sola2015:ASD_7chr6:
27293308-27293309		TCTncRNA_exonicMaternal--Codina-Sola2015 E
GAS2     Codina-Sola2015:ASD_8chr11:
22747894-22747894		TGexonicMaternalnonsynonymous SNVNM_005256
NM_001143830
NM_177553		c.T324G
c.T324G
c.T324G		p.F108L
p.F108L
p.F108L		13.37-Codina-Sola2015 E
CUL3     Codina-Sola2015:ASD_7chr2:
225342936-225342936		TCexonicDe novononsynonymous SNVNM_001257197
NM_001257198
NM_003590		c.A1958G
c.A2174G
c.A2156G		p.H653R
p.H725R
p.H719R		27.68.241E-6Codina-Sola2015 E
SMR3B     Codina-Sola2015:ASD_7chr4:
71255478-71255478		TTCexonicPaternalframeshift insertionNM_006685c.154dupCp.P51fs-0.0035Codina-Sola2015 E
MED13L     Codina-Sola2015:ASD_9chr12:
116413537-116413537		TAexonicPaternalnonsynonymous SNVNM_015335c.A5371Tp.S1791C20.9-Codina-Sola2015 E
MSLN     Codina-Sola2015:ASD_9chr16:
816166-816166		CTexonicPaternalstopgainNM_013404
NM_001177355
NM_005823		c.C1003T
c.C1003T
c.C1003T		p.Q335X
p.Q335X
p.Q335X		15.27-Codina-Sola2015 E
TTC25     Codina-Sola2015:ASD_8chr17:
40091598-40091599		TATexonicMaternalunknown-8.423E-5Codina-Sola2015 E
URB1     Codina-Sola2015:ASD_8chr21:
33757882-33757883		AGAexonicMaternalstopgainNM_014825c.253delCp.L85X--Codina-Sola2015 E
KIAA0100     Codina-Sola2015:ASD_11chr17:
26965004-26965004		AGexonicMaternalnonsynonymous SNVNM_014680c.T1621Cp.C541R18.25-Codina-Sola2015 E
MID2     Codina-Sola2015:ASD_11chrX:
107084386-107084386		GAexonicMaternalnonsynonymous SNVNM_012216
NM_052817		c.G491A
c.G491A		p.R164H
p.R164H		14.985.75E-5Codina-Sola2015 E
TEK     Codina-Sola2015:ASD_10chr9:
27220143-27220143		TTGTAAexonicPaternalstopgainNM_001290078
NM_001290077
NM_000459		c.2756_2757insGTAA
c.3071_3072insGTAA
c.3200_3201insGTAA		p.V919_Y920delinsVX
p.V1024_Y1025delinsVX
p.V1067_Y1068delinsVX		--Codina-Sola2015 E
MED13L     Codina-Sola2015:ASD_11chr12:
116446508-116446510		ACTAexonicDe novoframeshift deletionNM_015335c.1708_1709delp.S570fs--Codina-Sola2015 E
CACNA1E     Codina-Sola2015:ASD_13chr1:
181706695-181706695		CTexonicPaternalnonsynonymous SNVNM_001205294
NM_000721
NM_001205293		c.C3400T
c.C3457T
c.C3457T		p.R1134C
p.R1153C
p.R1153C		23.49.124E-5Codina-Sola2015 E
TMEM62     Codina-Sola2015:ASD_13chr15:
43441024-43441024		CCTexonicPaternalframeshift insertionNM_024956c.691dupTp.H230fs--Codina-Sola2015 E
CDC16     Codina-Sola2015:ASD_12chr13:
115027416-115027421		AAACTTAexonicMaternalframeshift deletionNM_001078645
NM_003903		c.1370_1374del
c.1370_1374del		p.K457fs
p.K457fs		-2.478E-5Codina-Sola2015 E
ARHGEF6     Codina-Sola2015:ASD_12chrX:
135827479-135827479		CTexonicMaternalnonsynonymous SNVNM_004840c.G362Ap.R121H11.20.005Codina-Sola2015 E
ANK3     Codina-Sola2015:ASD_14chr10:
61815514-61815514		GAexonicMaternalnonsynonymous SNVNM_001149
NM_001204403
NM_001204404
NM_020987		c.C2839T
c.C5419T
c.C5440T
c.C12967T		p.P947S
p.P1807S
p.P1814S
p.P4323S		24.9-Codina-Sola2015 E
NCOR1     Codina-Sola2015:ASD_14chr17:
15943753-15943753		AGsplicingMaternalsplicing20.5-Codina-Sola2015 E
CLTCL1     Codina-Sola2015:ASD_13chr22:
19241666-19241666		TGexonicPaternalnonsynonymous SNVNM_001835
NM_007098		c.A335C
c.A335C		p.K112T
p.K112T		17.78-Codina-Sola2015 E
BAZ1B     Codina-Sola2015:ASD_13chr7:
72891652-72891654		ATTAexonicMaternalframeshift deletionNM_032408c.2137_2138delp.N713fs--Codina-Sola2015 E
MECP2     Codina-Sola2015:ASD_14chrX:
153296117-153296117		GAexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C1198T
c.C1162T
c.C883T		p.P400S
p.P388S
p.P295S		7.7856.143E-5Codina-Sola2015 E
ITGBL1     Codina-Sola2015:ASD_15chr13:
102231739-102231740		AGAexonicPaternalframeshift deletionNM_001271754
NM_001271755
NM_001271756
NM_004791		c.266delG
c.542delG
c.410delG
c.689delG		p.R89fs
p.R181fs
p.R137fs
p.R230fs		-6.624E-5Codina-Sola2015 E
GAP43     Codina-Sola2015:ASD_14chr3:
115395293-115395293		ACexonicPaternalnonsynonymous SNVNM_002045
NM_001130064		c.A464C
c.A572C		p.K155T
p.K191T		23.9-Codina-Sola2015 E
KCNV1     Codina-Sola2015:ASD_14chr8:
110980428-110980430		GATGexonicDe novoframeshift deletionNM_014379c.1390_1391delp.I464fs--Codina-Sola2015 E
SCN2A     Codina-Sola2015:ASD_15chr2:
166231336-166231336		GAexonicPaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G4114A
c.G4114A
c.G4114A		p.G1372R
p.G1372R
p.G1372R		22.7-Codina-Sola2015 E
ADIPOR2     Codina-Sola2015:ASD_16chr12:
1863600-1863600		CTexonicDe novostopgainNM_024551c.C91Tp.R31X38.08.239E-6Codina-Sola2015 E
GPATCH8     Codina-Sola2015:ASD_15chr17:
42475172-42475176		TTGAGTexonicPaternalframeshift deletionNM_001304943
NM_001304939
NM_001304942
NM_001002909
NM_001304941
NM_001304940		c.4035_4038del
c.4194_4197del
c.4035_4038del
c.4269_4272del
c.4035_4038del
c.4035_4038del		p.H1345fs
p.H1398fs
p.H1345fs
p.H1423fs
p.H1345fs
p.H1345fs		-1.891E-5Codina-Sola2015 E
SPPL2B     Codina-Sola2015:ASD_15chr19:
2351605-2351610		TTGCTCTexonicMaternalunknown-6.071E-5Codina-Sola2015 E
MYL3     Codina-Sola2015:ASD_16chr3:
46899742-46899743		ACAexonicMaternalframeshift deletionNM_000258c.579delGp.M193fs--Codina-Sola2015 E
BEND4     Codina-Sola2015:ASD_16chr4:
42119582-42119582		GAexonicMaternalstopgainNM_207406c.C1558Tp.Q520X40.0-Codina-Sola2015 E
HTR2A     Codina-Sola2015:ASD_16chr13:
47469765-47469765		TCexonicPaternalnonsynonymous SNVNM_000621c.A277Gp.I93V19.14-Codina-Sola2015 E
GPR139     Codina-Sola2015:ASD_16chr16:
20043242-20043242		GAexonicPaternalnonsynonymous SNVNM_001002911c.C877Tp.R293C22.34.942E-5Codina-Sola2015 E
MAOA     Codina-Sola2015:ASD_16chrX:
43603612-43603612		AGsplicingMaternalsplicing15.45-Codina-Sola2015 E
MED1     Codina-Sola2015:ASD_17chr17:
37563901-37563901		AATexonicMaternalframeshift insertionNM_004774c.4572dupAp.S1525fs--Codina-Sola2015 E
ZCCHC18     Codina-Sola2015:ASD_16chrX:
103359680-103359680		GCexonicMaternalnonsynonymous SNVNM_001143978c.G878Cp.G293A--Codina-Sola2015 E
FRMPD4     Codina-Sola2015:ASD_16chrX:
12632966-12632966		GAexonicMaternalnonsynonymous SNVNM_014728c.G388Ap.A130T9.6449.0E-4Codina-Sola2015 E
FKBP14     Codina-Sola2015:ASD_18chr7:
30058726-30058726		TTGexonicPaternalframeshift insertionNM_017946c.362dupCp.P121fs-6.0E-4Codina-Sola2015 E
ITGBL1     Codina-Sola2015:ASD_19chr13:
102231739-102231740		AGAexonicMaternalframeshift deletionNM_001271754
NM_001271755
NM_001271756
NM_004791		c.266delG
c.542delG
c.410delG
c.689delG		p.R89fs
p.R181fs
p.R137fs
p.R230fs		-6.624E-5Codina-Sola2015 E
GRID1     Codina-Sola2015:ASD_18chr10:
87628861-87628861		GAexonicPaternalnonsynonymous SNVNM_017551c.C857Tp.P286L28.13.295E-5Codina-Sola2015 E
CHRNB1     Codina-Sola2015:ASD_18chr17:
7357664-7357664		TTCexonicMaternalframeshift insertionNM_000747c.870dupCp.F290fs--Codina-Sola2015 E
ZNF589     Codina-Sola2015:ASD_19chr3:
48310059-48310060		ACAexonicPaternalframeshift deletionNM_016089c.879delCp.N293fs-1.654E-5Codina-Sola2015 E
OR9A4     Codina-Sola2015:ASD_19chr7:
141619088-141619090		GACGexonicPaternalframeshift deletionNM_001001656c.414_415delp.R138fs-2.0E-4Codina-Sola2015 E
CARF     Codina-Sola2015:ASD_19chr2:
203848307-203848307		CCAexonicMaternalframeshift insertionNM_001282912
NM_001282910
NM_001104586
NM_001282911
NM_024744		c.1875dupA
c.1911dupA
c.2139dupA
c.1911dupA
c.2139dupA		p.A625fs
p.A637fs
p.A713fs
p.A637fs
p.A713fs		-0.0032Codina-Sola2015 E
ERBB4     Codina-Sola2015:ASD_19chr2:
212495269-212495269		AGexonicPaternalnonsynonymous SNVNM_001042599
NM_005235		c.T1997C
c.T1997C		p.I666T
p.I666T		23.28.243E-6Codina-Sola2015 E
ZC2HC1C     Codina-Sola2015:ASD_22chr14:
75538258-75538258		AAGexonicMaternalframeshift insertionNM_024643c.983dupGp.R328fs-0.0024Codina-Sola2015 E
C17orf105     Codina-Sola2015:ASD_22chr17:
41858485-41858485		ATsplicingMaternalsplicing13.72-Codina-Sola2015 E
CLTCL1     Codina-Sola2015:ASD_21chr22:
19241669-19241669		CGexonicPaternalnonsynonymous SNVNM_001835
NM_007098		c.G332C
c.G332C		p.W111S
p.W111S		21.74.272E-5Codina-Sola2015 E
RIT1     Codina-Sola2015:ASD_22chr1:
155870191-155870195		ATCTTAexonicPaternalframeshift deletionNM_001256820
NM_001256821
NM_006912		c.536_539del
c.695_698del
c.644_647del		p.K179fs
p.K232fs
p.K215fs		-4.121E-5Codina-Sola2015 E
ZNF827     Codina-Sola2015:ASD_24chr4:
146791440-146791440		ATexonicMaternalnonsynonymous SNVNM_001306215
NM_178835		c.T1938A
c.T1938A		p.D646E
p.D646E		23.81.648E-5Codina-Sola2015 E
SLC35B3     Codina-Sola2015:ASD_24chr6:
8421001-8421001		CTexonicMaternalstopgainNM_001142541
NM_015948		c.G635A
c.G635A		p.W212X
p.W212X		41.0-Codina-Sola2015 E
OR2T10     Codina-Sola2015:ASD_23chr1:
248756159-248756160		ATAexonicPaternalframeshift deletionNM_001004693c.910delAp.M304fs--Codina-Sola2015 E
CISD3     Codina-Sola2015:ASD_24chr17:
36887046-36887046		CCTexonicMaternalframeshift insertionNM_001136498c.83dupTp.L28fs-1.0E-4Codina-Sola2015 E
CYFIP1     Codina-Sola2015:ASD_26chr15:
22956139-22956139		CTexonicPaternalnonsynonymous SNVNM_001033028c.C83Tp.T28M15.484.916E-5Codina-Sola2015 E
SLX4     Codina-Sola2015:ASD_26chr16:
3647643-3647643		GAexonicPaternalstopgainNM_032444c.C1420Tp.Q474X42.0-Codina-Sola2015 E
PRR19     Codina-Sola2015:ASD_25chr19:
42814776-42814776		CTexonicPaternalstopgainNM_199285c.C955Tp.R319X40.08.302E-6Codina-Sola2015 E
RC3H1     Codina-Sola2015:ASD_26chr1:
173912624-173912624		GAexonicMaternalstopgainNM_001300850
NM_001300851
NM_001300852
NM_172071		c.C3091T
c.C3064T
c.C3064T
c.C3091T		p.Q1031X
p.Q1022X
p.Q1022X
p.Q1031X		40.0-Codina-Sola2015 E
TCAIM     Codina-Sola2015:ASD_27chr3:
44441934-44441934		CTexonicMaternalstopgainNM_001282913
NM_001282914
NM_001282915
NM_173826		c.C973T
c.C541T
c.C541T
c.C973T		p.Q325X
p.Q181X
p.Q181X
p.Q325X		39.0-Codina-Sola2015 E
GSN     Codina-Sola2015:ASD_27chr9:
124079385-124079385		AGexonicPaternalnonsynonymous SNVNM_000177
NM_001127662
NM_001258029
NM_001258030
NM_198252
NM_001127663
NM_001127664
NM_001127665
NM_001127666
NM_001127667		c.A928G
c.A775G
c.A826G
c.A799G
c.A775G
c.A883G
c.A775G
c.A775G
c.A808G
c.A808G		p.M310V
p.M259V
p.M276V
p.M267V
p.M259V
p.M295V
p.M259V
p.M259V
p.M270V
p.M270V		14.04-Codina-Sola2015 E
CABYR     Codina-Sola2015:ASD_27chr18:
21739567-21739567		CCTexonicPaternalframeshift insertionNM_138643
NM_138644
NM_153769		c.380dupT
c.674dupT
c.674dupT		p.L127fs
p.L225fs
p.L225fs		-2.0E-4Codina-Sola2015 E
MYBPC2     Codina-Sola2015:ASD_27chr19:
50963307-50963308		GCGexonicMaternalframeshift deletionNM_004533c.2803delCp.P935fs-9.0E-4Codina-Sola2015 E
ANK3     Codina-Sola2015:ASD_29chr10:
61829729-61829729		TCexonicPaternalnonsynonymous SNVNM_020987c.A10910Gp.H3637R16.58-Codina-Sola2015 E
CREBBP     Codina-Sola2015:ASD_29chr16:
3789589-3789589		GCexonicMaternalnonsynonymous SNVNM_001079846
NM_004380		c.C4156G
c.C4270G		p.P1386A
p.P1424A		20.9-Codina-Sola2015 E
EXOC6     Codina-Sola2015:ASD_28chr10:
94594563-94594563		CCTATTexonicPaternalframeshift insertionNM_001013848c.68_69insTATTp.P23fs--Codina-Sola2015 E
DNAH5     Codina-Sola2015:ASD_28chr5:
13859690-13859690		CAexonicMaternalnonsynonymous SNVNM_001369c.G4821Tp.Q1607H13.147.414E-5Codina-Sola2015 E
ACSM3     Codina-Sola2015:ASD_31chr16:
20793081-20793081		CTexonicPaternalstopgainNM_005622
NM_202000		c.C991T
c.C991T		p.R331X
p.R331X		25.52.0E-4Codina-Sola2015 E
FTSJ1     Codina-Sola2015:ASD_31chrX:
48341414-48341414		CTUTR3Maternal-6.0E-4Codina-Sola2015 E
SLC9A4     Codina-Sola2015:ASD_29chr2:
103130607-103130607		ATexonicPaternalstopgainNM_001011552c.A1618Tp.K540X42.0-Codina-Sola2015 E
DMD     Codina-Sola2015:ASD_30chrX:
31697642-31697642		CGexonicMaternalnonsynonymous SNVNM_004013
NM_004020
NM_004021
NM_004022
NM_004023
NM_004011
NM_004012
NM_000109
NM_004006
NM_004009
NM_004010		c.G342C
c.G342C
c.G342C
c.G342C
c.G342C
c.G3699C
c.G3690C
c.G7698C
c.G7722C
c.G7710C
c.G7353C		p.Q114H
p.Q114H
p.Q114H
p.Q114H
p.Q114H
p.Q1233H
p.Q1230H
p.Q2566H
p.Q2574H
p.Q2570H
p.Q2451H		17.311.142E-5Codina-Sola2015 E
RSPRY1     Codina-Sola2015:ASD_32chr16:
57238678-57238679		CGCexonicMaternalframeshift deletionNM_001305163
NM_001305164
NM_001305182
NM_133368		c.109delG
c.109delG
c.109delG
c.109delG		p.A37fs
p.A37fs
p.A37fs
p.A37fs		-8.237E-6Codina-Sola2015 E
PLCG2     Codina-Sola2015:ASD_32chr16:
81939026-81939026		CTexonicMaternalstopgainNM_002661c.C1381Tp.R461X38.03.376E-5Codina-Sola2015 E
PPP2R2D     Codina-Sola2015:ASD_32chr10:
133769285-133769285		CTexonicMaternalnonsynonymous SNVNM_001291310c.C685Tp.P229S10.722.577E-5Codina-Sola2015 E
TMEM266     Codina-Sola2015:ASD_32chr15:
76496219-76496219		GTexonicPaternalstopgainNM_152335c.G1159Tp.E387X25.8-Codina-Sola2015 E
MYT1     Codina-Sola2015:ASD_32chr20:
62839407-62839410		AGAGAexonicPaternalnonframeshift deletionNM_004535c.859_861delp.287_287del-0.0014Codina-Sola2015 E
DSPP     Codina-Sola2015:ASD_32chr4:
88536542-88536551		AACAGCAGTGAexonicUnknownnonframeshift deletionNM_014208c.2729_2737delp.910_913del-0.0768Codina-Sola2015 E
ZC3H18     Codina-Sola2015:ASD_32chr16:
88677720-88677726		CGAGCGGCexonicMaternalnonframeshift deletionNM_144604
NM_001294340		c.1252_1257del
c.1324_1329del		p.418_419del
p.442_443del		-0.0061Codina-Sola2015 E
C2orf88     Codina-Sola2015:ASD_32chr2:
191064602-191064607		TCAAAGTexonicMaternalframeshift deletionNM_001042519
NM_001042520
NM_032321
NM_001042521		c.17_21del
c.17_21del
c.17_21del
c.17_21del		p.S6fs
p.S6fs
p.S6fs
p.S6fs		--Codina-Sola2015 E
CACNA1F     Codina-Sola2015:ASD_32chrX:
49083444-49083444		CTexonicMaternalnonsynonymous SNVNM_001256789
NM_001256790
NM_005183		c.G1264A
c.G1069A
c.G1264A		p.D422N
p.D357N
p.D422N		15.5-Codina-Sola2015 E
MTF1     Codina-Sola2015:ASD_33chr1:
38305589-38305589		GAintronicPaternal--Codina-Sola2015 E
MDC1     Codina-Sola2015:ASD_32chr6:
30681076-30681081		TGAAGGTexonicPaternalframeshift deletionNM_014641c.638_642delp.A213fs-0.0018Codina-Sola2015 E
BCAP29     Codina-Sola2015:ASD_32chr7:
107254094-107254144		TACAGCATTCCAGTTTTGGTGAATTTTTAAGCAAAAGAAGCCACAAAAATGTexonicPaternalframeshift deletionNM_001008405c.691_736delp.H231fs-0.0031Codina-Sola2015 E
ALDH7A1     Codina-Sola2015:ASD_33chr5:
125887729-125887729		TCexonicPaternalnonsynonymous SNVNM_001202404
NM_001182
NM_001201377		c.A1190G
c.A1301G
c.A1217G		p.Y397C
p.Y434C
p.Y406C		19.992.476E-5Codina-Sola2015 E
ARID1B     Codina-Sola2015:ASD_33chr6:
157406015-157406015		CTexonicPaternalnonsynonymous SNVNM_017519
NM_020732		c.C2218T
c.C2257T		p.P740S
p.P753S		27.7-Codina-Sola2015 E
NCKAP5L     Codina-Sola2015:ASD_33chr12:
50189175-50189175		GTexonicMaternalnonsynonymous SNVNM_001037806c.C2468Ap.P823Q20.3-Codina-Sola2015 E
TIPARP     Codina-Sola2015:ASD_33chr3:
156395441-156395441		CGintronicMaternal--Codina-Sola2015 E
FOXN3     Codina-Sola2015:ASD_34chr14:
89629085-89629094		CCCCTCGCTGCexonicMaternalnonframeshift deletionNM_005197
NM_001085471		c.1071_1079del
c.1137_1145del		p.357_360del
p.379_382del		-0.0011Codina-Sola2015 E
IL16     Codina-Sola2015:ASD_34chr15:
81601104-81601104		CTexonicMaternalstopgainNM_004513
NM_172217
NM_001172128		c.C1861T
c.C3964T
c.C3961T		p.Q621X
p.Q1322X
p.Q1321X		42.04.972E-5Codina-Sola2015 E
CIT     Codina-Sola2015:ASD_34chr12:
120190054-120190054		TTGAsplicingUnknownsplicing-0.0346Codina-Sola2015 E
LTA4H     Codina-Sola2015:ASD_34chr12:
96394778-96394778		TTTAAGexonicPaternalframeshift insertionNM_000895
NM_001256643		c.1824_1825insCTTA
c.1752_1753insCTTA		p.K609fs
p.K585fs		--Codina-Sola2015 E
PRKCSH     Codina-Sola2015:ASD_34chr19:
11547022-11547025		GTCCGintronicUnknown-0.0395Codina-Sola2015 E
PRKRA     Codina-Sola2015:ASD_34chr2:
179300871-179300871		CTsplicingUnknownsplicing23.6-Codina-Sola2015 E
PROCA1     Codina-Sola2015:ASD_34chr17:
27031323-27031323		ACsplicingUnknownsplicing16.710.0051Codina-Sola2015 E
AP2B1     Codina-Sola2015:ASD_34chr17:
33966782-33966782		AGintronicMaternal-3.343E-5Codina-Sola2015 E
UBE3B     Codina-Sola2015:ASD_35chr12:
109921492-109921492		CTexonicMaternalnonsynonymous SNVNM_001270449
NM_001270450
NM_001270451
NM_130466
NM_183415		c.C136T
c.C136T
c.C136T
c.C136T
c.C136T		p.R46W
p.R46W
p.R46W
p.R46W
p.R46W		16.021.0E-4Codina-Sola2015 E
LAMA1     Codina-Sola2015:ASD_35chr18:
6999495-6999495		GAexonicMaternalnonsynonymous SNVNM_005559c.C4612Tp.R1538W14.452.0E-4Codina-Sola2015 E
RAD54L2     Codina-Sola2015:ASD_34chr3:
51661610-51661610		TAexonicPaternalnonsynonymous SNVNM_015106c.T181Ap.L61M13.63-Codina-Sola2015 E
NECAP2     Codina-Sola2015:ASD_35chr1:
16775637-16775637		CTexonicMaternalstopgainNM_001145277
NM_001145278
NM_018090		c.C430T
c.C352T
c.C430T		p.Q144X
p.Q118X
p.Q144X		28.69.627E-6Codina-Sola2015 E
SYNE1     Codina-Sola2015:ASD_35chr6:
152476160-152476160		CTexonicMaternalnonsynonymous SNVNM_033071
NM_182961		c.G23783A
c.G23996A		p.R7928Q
p.R7999Q		27.82.481E-5Codina-Sola2015 E
HSPB11     Codina-Sola2015:ASD_36chr1:
54405731-54405735		TCAGATexonicMaternalframeshift deletionNM_001316935
NM_016126		c.21_24del
c.21_24del		p.C7fs
p.C7fs		-1.664E-5Codina-Sola2015 E
CIC     Codina-Sola2015:ASD_35chr19:
42795707-42795707		CTintronicUnknown--Codina-Sola2015 E
LRP2     Codina-Sola2015:ASD_35chr2:
170129448-170129448		CTexonicUnknownnonsynonymous SNVNM_004525c.G2105Ap.R702H12.747.418E-5Codina-Sola2015 E
HOXD10     Codina-Sola2015:ASD_36chr2:
176983958-176983958		AAGGTCTGAGGCCexonicMaternalframeshift insertionNM_002148c.1022_1023insGGTCTGAGGCCp.X341delinsX-6.0E-4Codina-Sola2015 E
ALDH7A1     Codina-Sola2015:ASD_36chr5:
125919653-125919653		GAexonicPaternalnonsynonymous SNVNM_001182
NM_001201377
NM_001202404		c.C364T
c.C280T
c.C445T		p.R122W
p.R94W
p.R149W		15.921.0E-4Codina-Sola2015 E
ALDH3B2     Codina-Sola2015:ASD_36chr11:
67432760-67432760		GTexonicUnknownstopgainNM_000695
NM_001031615		c.C702A
c.C702A		p.Y234X
p.Y234X		38.05.0E-4Codina-Sola2015 E
MYO16     Codina-Sola2015:ASD_36chr13:
109644794-109644798		CAAGTCexonicMaternalframeshift deletionNM_001198950
NM_015011		c.2441_2442del
c.2375_2376del		p.Q814fs
p.Q792fs		--Codina-Sola2015 E
MECP2     Codina-Sola2015:ASD_36chrX:
153296249-153296249		GAexonicMaternalnonsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C1066T
c.C1030T
c.C751T		p.R356W
p.R344W
p.R251W		14.223.446E-5Codina-Sola2015 E
ZFP62     Codina-Sola2015:ASD_36chr5:
180276237-180276239		CCTCexonicMaternalframeshift deletionNM_001172638
NM_152283		c.2256_2257del
c.2157_2158del		p.T752fs
p.T719fs		-2.0E-4Codina-Sola2015 E
TTC26     Codina-Sola2015:ASD_36chr7:
138854056-138854056		CTexonicPaternalstopgainNM_001287512
NM_001144923
NM_001144920
NM_001287513
NM_024926		c.C634T
c.C934T
c.C1027T
c.C712T
c.C1027T		p.Q212X
p.Q312X
p.Q343X
p.Q238X
p.Q343X		36.0-Codina-Sola2015 E
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 © 2016-2023 Contact Us