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Results for "Wang2016"

Variant Events: 770

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
SCN2A     M17441chr2:
166179813-166179813		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C1819T
c.C1819T
c.C1819T		p.R607X
p.R607X
p.R607X		39.08.245E-6Wang2016 T
SHANK1     M23139chr19:
51190000-51190000		CTsplicingDe novosplicing20.4-Wang2016 T
ASH1L     M15039chr1:
155316175-155316175		CGexonicPaternalnonsynonymous SNVNM_018489c.G7889Cp.R2630T36.0-Wang2016 T
MED13L     M13354chr12:
116403973-116403973		CAexonicPaternalnonsynonymous SNVNM_015335c.G6301Tp.V2101L35.08.238E-6Wang2016 T
TSC2     M17674chr16:
2100431-2100431		CTexonicUnknownnonsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.C169T
c.C169T
c.C169T		p.R57C
p.R57C
p.R57C		18.39-Wang2016 T
TRIP12     M19571chr2:
230650514-230650514		CTexonicPaternalnonsynonymous SNVNM_001284216
NM_001284215
NM_004238
NM_001284214		c.G4018A
c.G4927A
c.G4828A
c.G4972A		p.G1340S
p.G1643S
p.G1610S
p.G1658S		29.8-Wang2016 T
CHD2     M18930chr15:
93543766-93543766		CTexonicPaternalnonsynonymous SNVNM_001271c.C4033Tp.R1345W25.3-Wang2016 T
SCN2A     M19672chr2:
166170189-166170189		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C1094T
c.C1094T
c.C1094T		p.T365M
p.T365M
p.T365M		26.7-Wang2016 T
ASH1L     M19813chr1:
155448636-155448636		CTexonicPaternalnonsynonymous SNVNM_018489c.G4025Ap.R1342Q26.43.303E-5Wang2016 T
WAC     M23067chr10:
28906698-28906698		CGexonicPaternalnonsynonymous SNVNM_100486
NM_016628
NM_100264		c.C1550G
c.C1859G
c.C1724G		p.T517S
p.T620S
p.T575S		33.0-Wang2016 T
FOXP1     M23720chr3:
71247418-71247418		CTexonicMaternalnonsynonymous SNVNM_001244814
NM_001244812
NM_001244816
NM_001012505
NM_001244808
NM_001244810
NM_032682		c.G115A
c.G115A
c.G115A
c.G115A
c.G115A
c.G115A
c.G115A		p.G39R
p.G39R
p.G39R
p.G39R
p.G39R
p.G39R
p.G39R		31.01.653E-5Wang2016 T
ASH1L     M20837chr1:
155348166-155348166		CTexonicDe novononsynonymous SNVNM_018489c.G6238Ap.V2080I35.06.589E-5Wang2016 T
CUL3     M03563chr2:
225370672-225370672		CAsplicingDe novosplicing23.5-Wang2016 T
NCKAP1     M23209chr2:
183792844-183792844		CTsplicingDe novosplicing24.2-Wang2016 T
RIMS1     M01493chr6:
72975162-72975162		CAexonicDe novostopgainNM_014989c.C3264Ap.C1088X37.0-Wang2016 T
WDFY3     M10006chr4:
85750232-85750232		CTexonicDe novononsynonymous SNVNM_014991c.G881Ap.S294N34.03.304E-5Wang2016 T
ZNF292     M02463chr6:
87965835-87965835		GGATCACexonicDe novoframeshift insertionNM_015021c.2488_2489insATCACp.D830fs--Wang2016 T
NAV2     M23133chr11:
20136247-20136247		GAexonicPaternalnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963		c.G4262A
c.G6878A
c.G7070A
c.G7079A
c.G7247A		p.R1421Q
p.R2293Q
p.R2357Q
p.R2360Q
p.R2416Q		35.04.166E-5Wang2016 T
EPHB2     M15021chr1:
23238971-23238971		GAexonicPaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2557A
c.G2731A
c.G2734A
c.G2731A		p.D853N
p.D911N
p.D912N
p.D911N		34.0-Wang2016 T
RIMS1     M12510chr6:
73023281-73023281		GTexonicUnknownnonsynonymous SNVNM_001168407
NM_014989		c.G1996T
c.G4036T		p.D666Y
p.D1346Y		25.7-Wang2016 T
SCN2A     M01813chr2:
166179814-166179816		GAAGexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.1821_1822del
c.1821_1822del
c.1821_1822del		p.R607fs
p.R607fs
p.R607fs		--Wang2016 T
SYNGAP1     M02073chr6:
33405522-33405522		CGexonicDe novostopgainNM_006772c.C840Gp.Y280X34.0-Wang2016 T
CDKL5     M01813chrX:
18668586-18668586		CTexonicDe novostopgainNM_003159
NM_001037343		c.C2854T
c.C2854T		p.R952X
p.R952X		38.01.0E-4Wang2016 T
MECP2     M03323chrX:
153296516-153296516		GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337		c.C799T
c.C763T
c.C484T		p.R267X
p.R255X
p.R162X		33.0-Wang2016 T
CHD8     M02193chr14:
21871185-21871186		ATAexonicDe novoframeshift deletionNM_001170629
NM_020920		c.3704delA
c.2867delA		p.N1235fs
p.N956fs		--Wang2016 T
CHD8     M08656chr14:
21878123-21878124		ATAexonicDe novoframeshift deletionNM_001170629
NM_020920		c.2250delA
c.1413delA		p.K750fs
p.K471fs		--Wang2016 T
MECP2     M04493chrX:
153296399-153296399		GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337		c.C916T
c.C880T
c.C601T		p.R306X
p.R294X
p.R201X		32.0-Wang2016 T
SCN2A     M11451chr2:
166201068-166201068		CTexonicDe novostopgainNM_001040143
NM_001040142
NM_021007		c.C2566T
c.C2566T
c.C2566T		p.R856X
p.R856X
p.R856X		41.0-Wang2016 T
SCN2A     M08856chr2:
166229733-166229733		ACsplicingDe novosplicing25.5-Wang2016 T
STXBP1     M12428chr9:
130428475-130428477		ATCAexonicDe novoframeshift deletionNM_001032221
NM_003165		c.695_696del
c.695_696del		p.I232fs
p.I232fs		--Wang2016 T
DYRK1A     M12327chr21:
38877659-38877659		GAexonicDe novononsynonymous SNVNM_001396
NM_130436
NM_130438
NM_101395		c.G1313A
c.G1286A
c.G1313A
c.G1313A		p.R438H
p.R429H
p.R438H
p.R438H		27.5-Wang2016 T
SCN2A     M15222chr2:
166229841-166229841		GCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G3956C
c.G3956C
c.G3956C		p.R1319P
p.R1319P
p.R1319P		32.0-Wang2016 T
SCN2A     M12434chr2:
166152561-166152561		GGCexonicDe novoframeshift insertionNM_001040143
NM_001040142
NM_021007		c.229dupC
c.229dupC
c.229dupC		p.V76fs
p.V76fs
p.V76fs		--Wang2016 T
SCN2A     M21522chr2:
166246026-166246028		CAACexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.5711_5712del
c.5711_5712del
c.5711_5712del		p.Q1904fs
p.Q1904fs
p.Q1904fs		--Wang2016 T
CHD8     M16139chr14:
21882530-21882530		TCexonicDe novononsynonymous SNVNM_001170629
NM_020920		c.A2072G
c.A1235G		p.D691G
p.D412G		24.2-Wang2016 T
SCN2A     M21701chr2:
166167003-166167003		AGexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A868G
c.A868G
c.A868G		p.I290V
p.I290V
p.I290V		5.129-Wang2016 T
POGZ     M21552chr1:
151379747-151379747		CTexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.G2111A
c.G2237A
c.G2210A
c.G2369A
c.G2396A		p.S704N
p.S746N
p.S737N
p.S790N
p.S799N		32.0-Wang2016 T
SCN2A     M23243chr2:
166243497-166243499		ATTAexonicDe novoframeshift deletionNM_001040143
NM_001040142
NM_021007		c.4794_4795del
c.4794_4795del
c.4794_4795del		p.D1598fs
p.D1598fs
p.D1598fs		--Wang2016 T
SCN2A     M23149chr2:
166245634-166245634		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5318T
c.C5318T
c.C5318T		p.A1773V
p.A1773V
p.A1773V		18.44-Wang2016 T
SCN2A     M3353chr2:
166172026-166172026		GTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G1429T
c.G1429T
c.G1429T		p.A477S
p.A477S
p.A477S		10.13-Wang2016 T
MAP3K1     M19767chr5:
56176602-56176602		GAexonicPaternalnonsynonymous SNVNM_005921c.G2152Ap.A718T35.0-Wang2016 T
UNC80     M20766chr2:
210858118-210858118		GAexonicMaternalnonsynonymous SNVNM_182587
NM_032504		c.G9206A
c.G9278A		p.R3069H
p.R3093H		34.0-Wang2016 T
ANK3     M19816chr10:
61846521-61846521		GAexonicPaternalnonsynonymous SNVNM_001149
NM_020987
NM_001204403
NM_001204404		c.C1064T
c.C3662T
c.C3644T
c.C3665T		p.P355L
p.P1221L
p.P1215L
p.P1222L		34.0-Wang2016 T
WDFY3     M20641chr4:
85781627-85781627		GAexonicDe novononsynonymous SNVNM_014991c.C118Tp.R40W23.4-Wang2016 T
POGZ     M19813chr1:
151402109-151402109		GAexonicDe novostopgainNM_207171
NM_001194938
NM_001194937
NM_015100		c.C379T
c.C379T
c.C538T
c.C538T		p.Q127X
p.Q127X
p.Q180X
p.Q180X		37.0-Wang2016 T
DSCAM     M17551chr21:
41446967-41446967		GAexonicDe novostopgainNM_001271534
NM_001389		c.C4885T
c.C4885T		p.R1629X
p.R1629X		41.0-Wang2016 T
GRIN2B     M20277chr12:
13768147-13768147		GAexonicDe novostopgainNM_000834c.C1555Tp.R519X40.08.24E-6Wang2016 T
DYRK1A     M20274chr21:
38853069-38853069		GTexonicDe novostopgainNM_001396
NM_130436
NM_130438
NM_101395		c.G457T
c.G430T
c.G457T
c.G457T		p.E153X
p.E144X
p.E153X
p.E153X		49.0-Wang2016 T
SETD5     M21987chr3:
9487425-9487425		GAsplicingPaternalsplicing17.71-Wang2016 T
GIGYF2     M23762chr2:
233655745-233655745		GTexonicDe novostopgainNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G940T
c.G958T
c.G1024T
c.G958T		p.E314X
p.E320X
p.E342X
p.E320X		34.0-Wang2016 T
CHD8     M12452chr14:
21854308-21854308		GAexonicPaternalnonsynonymous SNVNM_001170629
NM_020920		c.C7210T
c.C6373T		p.R2404W
p.R2125W		17.68-Wang2016 T
ASH1L     M17685chr1:
155448115-155448115		GAexonicPaternalnonsynonymous SNVNM_018489c.C4546Tp.R1516C19.09-Wang2016 T
COL4A3BP     M17640chr5:
74721309-74721309		GAexonicPaternalnonsynonymous SNVNM_005713
NM_031361
NM_001130105		c.C472T
c.C472T
c.C856T		p.R158C
p.R158C
p.R286C		34.0-Wang2016 T
ASH1L     M23185chr1:
155349842-155349842		GCexonicPaternalnonsynonymous SNVNM_018489c.C6169Gp.H2057D27.1-Wang2016 T
POGZ     M23639chr1:
151379390-151379390		GAexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.C2257T
c.C2383T
c.C2356T
c.C2515T
c.C2542T		p.R753W
p.R795W
p.R786W
p.R839W
p.R848W		25.98.265E-6Wang2016 T
MYT1L     M20699chr2:
1891360-1891360		GAexonicDe novostopgainNM_001303052
NM_015025		c.C2542T
c.C2536T		p.Q848X
p.Q846X		47.0-Wang2016 T
ASH1L     M03973chr1:
155491090-155491090		GAexonicDe novononsynonymous SNVNM_018489c.C221Tp.S74L35.08.239E-6Wang2016 T
ITPR1     M14999chr3:
4752093-4752093		GAexonicDe novononsynonymous SNVNM_001168272
NM_002222
NM_001099952		c.G4882A
c.G4855A
c.G4900A		p.E1628K
p.E1619K
p.E1634K		36.0-Wang2016 T
TRIP12     M08611chr2:
230724181-230724181		GAexonicDe novostopgainNM_001284215
NM_004238
NM_001284214		c.C208T
c.C208T
c.C334T		p.R70X
p.R70X
p.R112X		34.0-Wang2016 T
WDFY3     M18477chr4:
85678225-85678225		GAexonicDe novostopgainNM_014991c.C5278Tp.Q1760X49.0-Wang2016 T
ARHGAP32     M20247chr11:
128840352-128840353		CGCexonicDe novoframeshift deletionNM_014715
NM_001142685		c.3666delC
c.4713delC		p.P1222fs
p.P1571fs		--Wang2016 T
CHD2     M23688chr15:
93563389-93563389		GAexonicDe novononsynonymous SNVNM_001271c.G5054Ap.R1685H36.08.24E-6Wang2016 T
TSC2     M08470chr16:
2124222-2124222		GAexonicDe novononsynonymous SNVNM_000548
NM_001077183
NM_001114382		c.G2377A
c.G2377A
c.G2377A		p.E793K
p.E793K
p.E793K		32.0-Wang2016 T
DSCAM     M27851chr21:
41719739-41719740		AGAexonicDe novoframeshift deletionNM_001271534
NM_001389		c.1067delC
c.1067delC		p.P356fs
p.P356fs		--Wang2016 T
DLG2     M12341chr11:
84996284-84996284		TAexonicPaternalstopgainNM_001142699c.A166Tp.R56X13.59-Wang2016 T
UNC80     M15212chr2:
210745765-210745765		TCexonicPaternalnonsynonymous SNVNM_032504
NM_182587		c.T4063C
c.T4048C		p.F1355L
p.F1350L		36.0-Wang2016 T
UIMC1     M13462chr5:
176397869-176397869		TCsplicingMaternalsplicing15.78-Wang2016 T
DOCK8     M08458chr9:
339101-339101		TCsplicingDe novosplicing25.2-Wang2016 T
MKI67     M21670chr10:
129899611-129899613		TTGTexonicMaternalframeshift deletionNM_001145966
NM_002417		c.8534_8535del
c.9614_9615del		p.T2845fs
p.T3205fs		--Wang2016 T
MKI67     M23639chr10:
129913650-129913651		TCTexonicPaternalframeshift deletionNM_002417c.1021delGp.E341fs--Wang2016 T
MAP3K1     M20294chr5:
56167803-56167805		TACCexonicMaternalframeshift deletionNM_005921c.1368_1369delp.L456fs--Wang2016 T
AHNAK     M17634chr11:
62288308-62288310		ATTAexonicMaternalframeshift deletionNM_001620c.13579_13580delp.N4527fs--Wang2016 T
AHNAK     M20684chr11:
62284524-62284531		ACTCTCTTAexonicMaternalframeshift deletionNM_001620c.17358_17364delp.E5786fs--Wang2016 T
AHNAK     M20567chr11:
62285076-62285079		CAGAAexonicMaternalnonframeshift deletionNM_001620c.16811_16813delp.5604_5605del--Wang2016 T
PARD3B     M20709chr2:
206165461-206165463		GTAGsplicingPaternalsplicing--Wang2016 T
PARD3B     M14996chr2:
205978216-205978219		GATAAexonicPaternalnonframeshift deletionNM_001302769
NM_057177
NM_152526
NM_205863		c.595_597del
c.595_597del
c.595_597del
c.595_597del		p.199_199del
p.199_199del
p.199_199del
p.199_199del		--Wang2016 T
POGZ     M19757chr1:
151377304-151377304		CTexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.G3922A
c.G4048A
c.G4021A
c.G4180A
c.G4207A		p.A1308T
p.A1350T
p.A1341T
p.A1394T
p.A1403T		14.31-Wang2016 T
POGZ     M20274chr1:
151377852-151377852		TCexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G		p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R		15.534.951E-5Wang2016 T
POGZ     M26786chr1:
151377709-151377709		TCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.A3517G
c.A3643G
c.A3616G
c.A3775G
c.A3802G		p.I1173V
p.I1215V
p.I1206V
p.I1259V
p.I1268V		12.04-Wang2016 T
POGZ     M08512chr1:
151378168-151378168		GCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.C3058G
c.C3184G
c.C3157G
c.C3316G
c.C3343G		p.Q1020E
p.Q1062E
p.Q1053E
p.Q1106E
p.Q1115E		15.215.766E-5Wang2016 T
POGZ     M08079chr1:
151378123-151378123		ACexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.T3103G
c.T3229G
c.T3202G
c.T3361G
c.T3388G		p.L1035V
p.L1077V
p.L1068V
p.L1121V
p.L1130V		1.979-Wang2016 T
POGZ     M21572chr1:
151379747-151379747		CTexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.G2111A
c.G2237A
c.G2210A
c.G2369A
c.G2396A		p.S704N
p.S746N
p.S737N
p.S790N
p.S799N		32.0-Wang2016 T
POGZ     M17529chr1:
151378920-151378920		CTexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.G2306A
c.G2432A
c.G2405A
c.G2564A
c.G2591A		p.R769Q
p.R811Q
p.R802Q
p.R855Q
p.R864Q		26.31.798E-5Wang2016 T
POGZ     M12417chr1:
151381291-151381291		TGexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.A1655C
c.A1781C
c.A1754C
c.A1913C
c.A1940C		p.Y552S
p.Y594S
p.Y585S
p.Y638S
p.Y647S		17.21-Wang2016 T
POGZ     M21662chr1:
151396522-151396522		GAexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.C1141T
c.C1267T
c.C1240T
c.C1399T
c.C1426T		p.R381W
p.R423W
p.R414W
p.R467W
p.R476W		19.534.118E-5Wang2016 T
POGZ     M21656chr1:
151396503-151396503		GCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.C1160G
c.C1286G
c.C1259G
c.C1418G
c.C1445G		p.A387G
p.A429G
p.A420G
p.A473G
p.A482G		13.35-Wang2016 T
POGZ     M08828chr1:
151396521-151396521		CTexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.G1142A
c.G1268A
c.G1241A
c.G1400A
c.G1427A		p.R381Q
p.R423Q
p.R414Q
p.R467Q
p.R476Q		18.543.295E-5Wang2016 T
POGZ     M23749chr1:
151396573-151396573		CTexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.G1090A
c.G1216A
c.G1189A
c.G1348A
c.G1375A		p.D364N
p.D406N
p.D397N
p.D450N
p.D459N		33.0-Wang2016 T
POGZ     M08871chr1:
151400407-151400407		GCexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.C685G
c.C811G
c.C784G
c.C943G
c.C970G		p.L229V
p.L271V
p.L262V
p.L315V
p.L324V		10.45-Wang2016 T
POGZ     M08437chr1:
151400517-151400517		GAexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_015100		c.C575T
c.C701T
c.C860T		p.A192V
p.A234V
p.A287V		14.1-Wang2016 T
POGZ     M21555chr1:
151413476-151413476		CTexonicUnknownnonsynonymous SNVNM_001194937
NM_015100
NM_145796		c.G211A
c.G211A
c.G211A		p.V71I
p.V71I
p.V71I		9.074-Wang2016 T
AHNAK     M20268chr11:
62284524-62284526		ACTAexonicMaternalframeshift deletionNM_001620c.17363_17364delp.E5788fs--Wang2016 T
CRYBG3     M18372chr3:
97607196-97607197		ACGexonicUnknownframeshift substitutionNM_153605c.7301_7302GN/A--Wang2016 T
GIGYF2     M15067chr2:
233709077-233709089		AGCATTCCAACCTAexonicUnknownframeshift deletionNM_001103148
NM_001103146
NM_001103147
NM_015575		c.3082_3092del
c.3100_3110del
c.3163_3173del
c.3100_3110del		p.H1028fs
p.H1034fs
p.H1055fs
p.H1034fs		--Wang2016 T
DOCK8     M20553chr9:
446435-446439		ATACTAexonicMaternalframeshift deletionNM_001190458
NM_001193536
NM_203447		c.5347_5350del
c.5443_5446del
c.5647_5650del		p.Y1783fs
p.Y1815fs
p.Y1883fs		--Wang2016 T
KMT2E     M19752chr7:
104749443-104749447		AAGACAexonicMaternalframeshift deletionNM_018682
NM_182931		c.3524_3527del
c.3524_3527del		p.K1175fs
p.K1175fs		--Wang2016 T
NRXN1     M26879chr2:
50723214-50723215		CATexonicMaternalframeshift substitutionNM_004801
NM_001135659		c.2898_2899A
c.3018_3019A		N/A
N/A		--Wang2016 T
ANK2     M08719chr4:
114278569-114278570		CTTexonicUnknownframeshift deletionNM_001148c.8795delCp.P2932fs--Wang2016 T
ARID1B     M04133chr6:
157522160-157522161		AGAexonicUnknownframeshift deletionNM_017519
NM_020732		c.4394delG
c.4433delG		p.R1465fs
p.R1478fs		--Wang2016 T
DOCK8     M15093chr9:
332433-332435		CTGAexonicMaternalframeshift substitutionNM_001190458
NM_001193536
NM_203447		c.876_878A
c.876_878A
c.1080_1082A		N/A
N/A
N/A		--Wang2016 T
ADNP     M01853chr20:
49508203-49508203		CGexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.G3048C
c.G3048C
c.G3048C
c.G3048C		p.K1016N
p.K1016N
p.K1016N
p.K1016N		11.65-Wang2016 T
PASK     M17585chr2:
242072348-242072348		CTexonicPaternalsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G1404A
c.G1299A
c.G1404A
c.G1404A
c.G1404A		p.Q468Q
p.Q433Q
p.Q468Q
p.Q468Q
p.Q468Q		--Wang2016 T
KMT2C     M01963chr7:
151878351-151878353		CCTTexonicUnknownframeshift deletionNM_170606c.6593_6594delp.R2198fs--Wang2016 T
RIMS1     M08671chr6:
72993787-72993789		CAGTexonicUnknownframeshift substitutionNM_001168407
NM_001168409
NM_001168410
NM_014989		c.1663_1665T
c.1423_1425T
c.1621_1623T
c.3520_3522T		N/A
N/A
N/A
N/A		--Wang2016 T
SYNGAP1     M19759chr6:
33412356-33412357		GATexonicUnknownframeshift substitutionNM_006772c.3544_3545TN/A--Wang2016 T
SENP8     M23266chr15:
72432570-72432571		GATexonicPaternalframeshift substitutionNM_001166340
NM_145204
NM_001172109
NM_001172110
NM_001172111		c.606_607T
c.606_607T
c.606_607T
c.606_607T
c.606_607T		N/A
N/A
N/A
N/A
N/A		--Wang2016 T
PASK     M26879chr2:
242066299-242066300		GATexonicMaternalframeshift substitutionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2030_2031A
c.1925_1926A
c.2030_2031A
c.2030_2031A
c.2030_2031A		N/A
N/A
N/A
N/A
N/A		--Wang2016 T
MFRP     M13371chr11:
119213358-119213360		GTCTexonicUnknownframeshift substitutionNM_031433c.1333_1335AN/A--Wang2016 T
ITPR1     M12447chr3:
4859926-4859926		GTexonicMaternalnonsynonymous SNVNM_002222
NM_001099952
NM_001168272		c.G7839T
c.G7884T
c.G7983T		p.K2613N
p.K2628N
p.K2661N		27.6-Wang2016 T
RIMS1     M19770chr6:
72974696-72974697		TAAexonicMaternalstopgainNM_014989c.3135delTp.Y1045X--Wang2016 T
ST3GAL6     M08317chr3:
98489756-98489757		GAAexonicPaternalframeshift deletionNM_001271145
NM_001271146
NM_006100		c.282delG
c.123delG
c.123delG		p.K94fs
p.K41fs
p.K41fs		--Wang2016 T
MOV10     M08563chr1:
113243128-113243128		GTexonicMaternalstoplossNM_001130079
NM_020963
NM_001286072		c.G3011T
c.G3011T
c.G2843T		p.X1004L
p.X1004L
p.X948L		17.22-Wang2016 T
DLG2     M26816chr11:
84996409-84996410		TCTsplicingMaternalsplicing--Wang2016 T
YTHDC1     M17671chr4:
69203634-69203635		TAAintronicPaternal--Wang2016 T
RIMS1     M20687chr6:
72974696-72974697		TATexonicMaternalframeshift deletionNM_014989c.3136delAp.K1046fs-5.0E-4Wang2016 T
YTHDC1     M20719chr4:
69203634-69203635		TATintronicMaternal-0.2589Wang2016 T
NFIA     M08873chr1:
61547681-61547681		CAexonicUnknownstopgainNM_001145512c.C66Ap.C22X36.0-Wang2016 T
TRRAP     M19702chr7:
98529197-98529197		CAexonicMaternalnonsynonymous SNVNM_001244580
NM_003496		c.C3761A
c.C3761A		p.S1254Y
p.S1254Y		35.0-Wang2016 T
WDFY3     M19711chr4:
85676452-85676460		TAAAAAAACTexonicPaternalframeshift deletionNM_014991c.5518_5525delp.V1840fs--Wang2016 T
IQGAP3     M13451chr1:
156506972-156506972		CAsplicingUnknownsplicing23.0-Wang2016 T
SNX5     M27821chr20:
17937682-17937682		CAsplicingMaternalsplicing22.4-Wang2016 T
DSCAM     M15191chr21:
41452079-41452079		CAexonicMaternalstopgainNM_001271534
NM_001389		c.G4420T
c.G4420T		p.E1474X
p.E1474X		39.08.532E-6Wang2016 T
RELN     M08584chr7:
103126648-103126648		CAexonicMaternalnonsynonymous SNVNM_005045
NM_173054		c.G9979T
c.G9979T		p.A3327S
p.A3327S		35.0-Wang2016 T
ASH1L     M27787chr1:
155348172-155348172		CAexonicMaternalnonsynonymous SNVNM_018489c.G6232Tp.V2078F35.0-Wang2016 T
STXBP1     M17663chr9:
130427532-130427532		CAexonicUnknownstopgainNM_001032221
NM_003165		c.C585A
c.C585A		p.Y195X
p.Y195X		35.0-Wang2016 T
CDC45     M17688chr22:
19471511-19471511		CAexonicPaternalnonsynonymous SNVNM_001178011
NM_001178010
NM_003504		c.C331A
c.C469A
c.C469A		p.R111S
p.R157S
p.R157S		31.0-Wang2016 T
DLGAP1     M12526chr18:
3879645-3879645		CAexonicUnknownnonsynonymous SNVNM_001242761
NM_004746		c.G424T
c.G424T		p.V142L
p.V142L		31.0-Wang2016 T
HECTD1     M23745chr14:
31589041-31589041		CAexonicUnknownnonsynonymous SNVNM_015382c.G5270Tp.R1757L32.0-Wang2016 T
GRIN2B     M16260chr12:
13715854-13715854		CAexonicMaternalnonsynonymous SNVNM_000834c.G4318Tp.A1440S0.8958.239E-6Wang2016 T
DSCAM     M17542chr21:
41514487-41514487		CAexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.G3404T
c.G3404T		p.G1135V
p.G1135V		25.6-Wang2016 T
TRRAP     M12352chr7:
98567763-98567763		CAexonicPaternalnonsynonymous SNVNM_003496
NM_001244580		c.C7466A
c.C7520A		p.T2489N
p.T2507N		34.0-Wang2016 T
DOCK8     M23812chr9:
429850-429850		CAexonicMaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447		c.C4322A
c.C4418A
c.C4622A		p.T1441N
p.T1473N
p.T1541N		14.38-Wang2016 T
ZNF292     M17615chr6:
87965556-87965556		CAexonicMaternalnonsynonymous SNVNM_015021c.C2209Ap.L737I17.7-Wang2016 T
ZNF292     MD2071chr6:
87968399-87968399		ACexonicMaternalnonsynonymous SNVNM_015021c.A5052Cp.E1684D11.018.428E-6Wang2016 T
DSCAM     M19636chr21:
41719630-41719630		ACexonicMaternalnonsynonymous SNVNM_001271534
NM_001389		c.T1177G
c.T1177G		p.S393A
p.S393A		19.428.281E-6Wang2016 T
RIMS1     M15139chr6:
73043394-73043394		CAexonicMaternalnonsynonymous SNVNM_001168407
NM_014989		c.C2182A
c.C4222A		p.L728M
p.L1408M		22.4-Wang2016 T
ARHGAP32     M18428chr11:
128843237-128843237		CAexonicMaternalnonsynonymous SNVNM_014715
NM_001142685		c.G2075T
c.G3122T		p.R692L
p.R1041L		24.9-Wang2016 T
ASH1L     M23104chr1:
155447834-155447834		ACexonicMaternalnonsynonymous SNVNM_018489c.T4827Gp.S1609R21.28.241E-6Wang2016 T
MED13L     M21480chr12:
116413380-116413380		CAexonicMaternalnonsynonymous SNVNM_015335c.G5528Tp.C1843F27.8-Wang2016 T
MED13L     M19792chr12:
116422094-116422094		CAexonicMaternalnonsynonymous SNVNM_015335c.G4422Tp.K1474N17.64-Wang2016 T
PHIP     M15024chr6:
79650574-79650576		TTCTexonicDe novoframeshift deletionNM_017934c.5300_5301delp.R1767fs--Wang2016 T
GIGYF2     M15196chr2:
233712060-233712060		CAexonicMaternalnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.C3445A
c.C3463A
c.C3526A
c.C3463A		p.P1149T
p.P1155T
p.P1176T
p.P1155T		23.93.0E-4Wang2016 T
SCN2A     M8590chr2:
166170611-166170611		ACexonicMaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A1376C
c.A1376C
c.A1376C		p.E459A
p.E459A
p.E459A		12.716.125E-5Wang2016 T
ASH1L     M12425chr1:
155449669-155449669		ACexonicMaternalnonsynonymous SNVNM_018489c.T2992Gp.L998V14.21.0E-4Wang2016 T
MED13L     M23196chr12:
116443746-116443748		CTGCexonicDe novoframeshift deletionNM_015335c.2395_2396delp.Q799fs--Wang2016 T
CHD8     M17463chr14:
21862265-21862265		GGTexonicDe novoframeshift insertionNM_001170629
NM_020920		c.5688dupA
c.4851dupA		p.R1897fs
p.R1618fs		--Wang2016 T
NCKAP1     M8997chr2:
183867721-183867721		CAexonicMaternalnonsynonymous SNVNM_013436
NM_205842		c.G350T
c.G368T		p.C117F
p.C123F		12.71.0E-4Wang2016 T
MED13L     M21695chr12:
116413426-116413426		CAexonicUnknownnonsynonymous SNVNM_015335c.G5482Tp.V1828L28.99.897E-5Wang2016 T
SCN2A     M20573chr2:
166237659-166237660		GAAexonicPaternalframeshift deletionNM_001040143
NM_001040142
NM_021007		c.4503delG
c.4503delG
c.4503delG		p.M1501fs
p.M1501fs
p.M1501fs		--Wang2016 T
ITPR1     M8506chr3:
4767233-4767233		CAexonicUnknownnonsynonymous SNVNM_001168272c.C5095Ap.P1699T10.845.116E-5Wang2016 T
CDKL5     M20272chrX:
18622983-18622983		CAexonicUnknownnonsynonymous SNVNM_003159
NM_001037343		c.C1939A
c.C1939A		p.P647T
p.P647T		20.5-Wang2016 T
MED13L     M20306chr12:
116408522-116408522		ACexonicUnknownnonsynonymous SNVNM_015335c.T5944Gp.S1982A22.18.251E-6Wang2016 T
SCN2A     M27874chr2:
166243261-166243261		ACexonicPaternalnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A4557C
c.A4557C
c.A4557C		p.K1519N
p.K1519N
p.K1519N		13.75-Wang2016 T
DOCK8     M8464chr9:
317064-317064		CAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447		c.C559A
c.C559A
c.C763A		p.P187T
p.P187T
p.P255T		12.231.0E-4Wang2016 T
ASH1L     M26870chr1:
155408629-155408629		CAexonicUnknownnonsynonymous SNVNM_018489c.G5317Tp.D1773Y18.11-Wang2016 T
MED13L     M8698chr12:
116413426-116413426		CAexonicUnknownnonsynonymous SNVNM_015335c.G5482Tp.V1828L28.99.897E-5Wang2016 T
NCOR1     M15076chr17:
15973499-15973499		ACexonicPaternalnonsynonymous SNVNM_001190440
NM_006311		c.T4541G
c.T4493G		p.M1514R
p.M1498R		22.7-Wang2016 T
RIMS1     M12403chr6:
73100399-73100399		CAexonicPaternalnonsynonymous SNVNM_001168411
NM_001168408
NM_001168409
NM_001168410
NM_001168407
NM_014989		c.C47A
c.C1841A
c.C1670A
c.C1868A
c.C2426A
c.C4466A		p.S16Y
p.S614Y
p.S557Y
p.S623Y
p.S809Y
p.S1489Y		20.5-Wang2016 T
DOCK8     M12507chr9:
336692-336692		CAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447		c.C1192A
c.C1192A
c.C1396A		p.L398M
p.L398M
p.L466M		5.739-Wang2016 T
DOCK8     M8784chr9:
443440-443440		ACexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447		c.A5204C
c.A5300C
c.A5504C		p.Q1735P
p.Q1767P
p.Q1835P		23.4-Wang2016 T
ARHGAP32     M15024chr11:
128851803-128851803		ACexonicPaternalnonsynonymous SNVNM_014715
NM_001142685		c.T466G
c.T1513G		p.S156A
p.S505A		7.4174.975E-5Wang2016 T
ASH1L     M19690chr1:
155451197-155451197		ACexonicPaternalnonsynonymous SNVNM_018489c.T1464Gp.I488M11.05-Wang2016 T
ZNF292     M11397chr6:
87966129-87966129		CAexonicPaternalnonsynonymous SNVNM_015021c.C2782Ap.P928T0.349.227E-5Wang2016 T
MED13L     M12344chr12:
116446617-116446617		CAexonicPaternalnonsynonymous SNVNM_015335c.G1601Tp.R534I14.538.266E-5Wang2016 T
DSCAM     M08781chr21:
41741085-41741085		GAexonicUnknownnonsynonymous SNVNM_001271534
NM_001389		c.C596T
c.C596T		p.T199M
p.T199M		31.01.66E-5Wang2016 T
TRRAP     M13288chr7:
98581031-98581031		GAexonicUnknownnonsynonymous SNVNM_003496
NM_001244580		c.G8896A
c.G8950A		p.D2966N
p.D2984N		32.0-Wang2016 T
NCKAP1     M23272chr2:
183848038-183848038		ACexonicPaternalnonsynonymous SNVNM_013436
NM_205842		c.T1077G
c.T1095G		p.D359E
p.D365E		18.46-Wang2016 T
NCKAP1     M21513chr2:
183867721-183867721		CAexonicPaternalnonsynonymous SNVNM_013436
NM_205842		c.G350T
c.G368T		p.C117F
p.C123F		12.71.0E-4Wang2016 T
HIVEP3     M13300chr1:
41979349-41979349		GAexonicUnknownnonsynonymous SNVNM_001127714
NM_024503		c.C5543T
c.C5543T		p.S1848L
p.S1848L		35.08.508E-6Wang2016 T
MAP3K1     M08973chr5:
56170973-56170973		GAexonicUnknownnonsynonymous SNVNM_005921c.G1801Ap.E601K36.08.283E-6Wang2016 T
AGO4     M13352chr1:
36306806-36306806		GAexonicUnknownnonsynonymous SNVNM_017629c.G1765Ap.D589N34.08.269E-6Wang2016 T
RALGAPB     M13385chr20:
37168453-37168453		GAexonicUnknownnonsynonymous SNVNM_001282917
NM_001282918
NM_020336		c.G2414A
c.G2402A
c.G2414A		p.R805Q
p.R801Q
p.R805Q		37.01.0E-4Wang2016 T
ANK3     M23688chr10:
61932868-61932868		GAexonicMaternalnonsynonymous SNVNM_001204404
NM_020987
NM_001204403		c.C2210T
c.C2261T
c.C2243T		p.A737V
p.A754V
p.A748V		36.09.906E-5Wang2016 T
NAV2     M21717chr11:
19970605-19970605		GAexonicMaternalnonsynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963		c.G2432A
c.G2624A
c.G2624A
c.G2693A		p.R811Q
p.R875Q
p.R875Q
p.R898Q		34.01.0E-4Wang2016 T
NAV2     M08710chr11:
20099182-20099182		GAsplicingUnknownsplicing21.0-Wang2016 T
NAV2     M26848chr11:
20067213-20067213		GAexonicMaternalnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963		c.G1157A
c.G3707A
c.G3899A
c.G3899A
c.G3968A		p.R386H
p.R1236H
p.R1300H
p.R1300H
p.R1323H		33.01.0E-4Wang2016 T
RELN     M23639chr7:
103290810-103290810		GAexonicMaternalnonsynonymous SNVNM_005045
NM_173054		c.C1913T
c.C1913T		p.P638L
p.P638L		31.06.621E-5Wang2016 T
CTTNBP2     M20562chr7:
117368228-117368228		GAexonicMaternalnonsynonymous SNVNM_033427c.C3970Tp.R1324C32.04.123E-5Wang2016 T
NAV2     M26778chr11:
19970605-19970605		GAexonicMaternalnonsynonymous SNVNM_001111018
NM_145117
NM_182964
NM_001244963		c.G2432A
c.G2624A
c.G2624A
c.G2693A		p.R811Q
p.R875Q
p.R875Q
p.R898Q		34.01.0E-4Wang2016 T
CHD7     M21675chr8:
61750797-61750797		GAexonicMaternalnonsynonymous SNVNM_017780c.G4516Ap.G1506S34.06.64E-5Wang2016 T
FOXP1     M17539chr3:
71247408-71247408		GAexonicMaternalnonsynonymous SNVNM_001244814
NM_001244812
NM_001244816
NM_001012505
NM_001244808
NM_001244810
NM_032682		c.C125T
c.C125T
c.C125T
c.C125T
c.C125T
c.C125T
c.C125T		p.P42L
p.P42L
p.P42L
p.P42L
p.P42L
p.P42L
p.P42L		32.08.266E-6Wang2016 T
ADGRL2     M20398chr1:
82434986-82434986		GAexonicMaternalnonsynonymous SNVNM_001297705
NM_001297706
NM_012302
NM_001297704		c.G2597A
c.G2597A
c.G2597A
c.G2597A		p.R866Q
p.R866Q
p.R866Q
p.R866Q		34.04.943E-5Wang2016 T
DIP2A     M21462chr21:
47958483-47958483		GAexonicMaternalnonsynonymous SNVNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891		c.G1760A
c.G1877A
c.G1889A
c.G1889A
c.G1889A
c.G1889A		p.R587H
p.R626H
p.R630H
p.R630H
p.R630H
p.R630H		34.03.877E-5Wang2016 T
FOXP1     M12496chr3:
71247408-71247408		GAexonicMaternalnonsynonymous SNVNM_001244814
NM_001244812
NM_001244816
NM_001012505
NM_001244808
NM_001244810
NM_032682		c.C125T
c.C125T
c.C125T
c.C125T
c.C125T
c.C125T
c.C125T		p.P42L
p.P42L
p.P42L
p.P42L
p.P42L
p.P42L
p.P42L		32.08.266E-6Wang2016 T
TSC2     M23182chr16:
2129166-2129166		GAexonicMaternalnonsynonymous SNVNM_001077183
NM_000548
NM_001114382		c.G2968A
c.G3100A
c.G3100A		p.V990I
p.V1034I
p.V1034I		34.04.991E-5Wang2016 T
TRIO     M21717chr5:
14482770-14482770		GAexonicMaternalnonsynonymous SNVNM_007118c.G6545Ap.R2182H32.05.779E-5Wang2016 T
TRRAP     M15264chr7:
98581031-98581031		GAexonicMaternalnonsynonymous SNVNM_003496
NM_001244580		c.G8896A
c.G8950A		p.D2966N
p.D2984N		32.0-Wang2016 T
ASH1L     M20709chr1:
155491090-155491090		GAexonicMaternalnonsynonymous SNVNM_018489c.C221Tp.S74L35.08.239E-6Wang2016 T
NRXN1     M27891chr2:
50699492-50699492		GAexonicMaternalnonsynonymous SNVNM_004801
NM_001135659		c.C3188T
c.C3308T		p.P1063L
p.P1103L		33.08.42E-6Wang2016 T
TCF4     M16274chr18:
52937148-52937148		GAexonicMaternalnonsynonymous SNVNM_001243234
NM_001243235
NM_001243236
NM_001243232
NM_001243233
NM_001306208
NM_001243231
NM_001243227
NM_001243230
NM_001306207
NM_001083962
NM_001243228
NM_003199
NM_001243226		c.C356T
c.C356T
c.C356T
c.C623T
c.C446T
c.C623T
c.C710T
c.C764T
c.C830T
c.C764T
c.C836T
c.C854T
c.C836T
c.C1142T		p.P119L
p.P119L
p.P119L
p.P208L
p.P149L
p.P208L
p.P237L
p.P255L
p.P277L
p.P255L
p.P279L
p.P285L
p.P279L
p.P381L		35.08.256E-6Wang2016 T
EPHB2     M01563chr1:
23236903-23236903		GAexonicMaternalnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2357A
c.G2531A
c.G2534A
c.G2531A		p.R786Q
p.R844Q
p.R845Q
p.R844Q		35.02.479E-5Wang2016 T
ADNP     M03533chr20:
49508963-49508963		GAexonicMaternalnonsynonymous SNVNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2288T
c.C2288T
c.C2288T
c.C2288T		p.S763F
p.S763F
p.S763F
p.S763F		31.0-Wang2016 T
PPM1D     M23765chr17:
58711261-58711261		GAexonicMaternalnonsynonymous SNVNM_003620c.G749Ap.R250Q31.0-Wang2016 T
MOV10     M21013chr1:
113241093-113241093		GAexonicMaternalnonsynonymous SNVNM_001130079
NM_020963
NM_001286072		c.G2501A
c.G2501A
c.G2333A		p.R834Q
p.R834Q
p.R778Q		36.08.362E-6Wang2016 T
PSME4     M02363chr2:
54152705-54152705		GAexonicMaternalnonsynonymous SNVNM_014614c.C1780Tp.L594F32.0-Wang2016 T
MAP3K1     M15079chr5:
56174918-56174918		GAexonicMaternalnonsynonymous SNVNM_005921c.G2077Ap.D693N32.0-Wang2016 T
GLI2     M08455chr2:
121744056-121744056		GAexonicMaternalnonsynonymous SNVNM_005270c.G2159Ap.R720H33.05.0E-4Wang2016 T
GLI2     M08725chr2:
121744100-121744100		GAexonicMaternalnonsynonymous SNVNM_005270c.G2203Ap.E735K36.01.652E-5Wang2016 T
ANK2     M13357chr4:
114251431-114251431		GAexonicMaternalnonsynonymous SNVNM_001148
NM_020977
NM_001127493		c.G2930A
c.G2930A
c.G2903A		p.R977Q
p.R977Q
p.R968Q		36.08.347E-6Wang2016 T
MED13L     M12490chr12:
116403957-116403957		GAexonicMaternalnonsynonymous SNVNM_015335c.C6317Tp.A2106V36.0-Wang2016 T
UNC80     M27889chr2:
210840974-210840974		GAexonicMaternalnonsynonymous SNVNM_032504
NM_182587		c.G8521A
c.G8506A		p.V2841M
p.V2836M		34.0-Wang2016 T
UNC80     M12443chr2:
210843331-210843331		GAexonicMaternalnonsynonymous SNVNM_032504
NM_182587		c.G8819A
c.G8804A		p.R2940H
p.R2935H		35.04.629E-5Wang2016 T
KIRREL3     M20306chr11:
126314948-126314948		GAexonicMaternalnonsynonymous SNVNM_001161707
NM_001301097
NM_032531		c.C1178T
c.C1178T
c.C1178T		p.A393V
p.A393V
p.A393V		36.02.489E-5Wang2016 T
PARD3B     M23278chr2:
206023530-206023530		GAexonicMaternalnonsynonymous SNVNM_001302769
NM_057177
NM_205863		c.G1519A
c.G1519A
c.G1519A		p.A507T
p.A507T
p.A507T		35.08.281E-6Wang2016 T
CUL7     M03623chr6:
43006061-43006061		GAexonicMaternalstopgainNM_001168370
NM_014780		c.C4969T
c.C4717T		p.R1657X
p.R1573X		45.08.27E-6Wang2016 T
PROX2     M12507chr14:
75325157-75325157		GAexonicMaternalstopgainNM_001243007c.C1366Tp.R456X15.425.992E-5Wang2016 T
PSEN2     M26861chr1:
227073370-227073370		GAexonicMaternalnonsynonymous SNVNM_000447
NM_012486		c.G488A
c.G488A		p.R163H
p.R163H		35.02.48E-5Wang2016 T
PHF7     M12422chr3:
52445044-52445044		GAUTR5Maternal--Wang2016 T
EPHB2     M16161chr1:
23235599-23235599		GAexonicUnknownnonsynonymous SNVNM_001309192
NM_001309193
NM_004442
NM_017449		c.G2263A
c.G2437A
c.G2440A
c.G2437A		p.G755S
p.G813S
p.G814S
p.G813S		35.0-Wang2016 T
TRRAP     M12443chr7:
98609099-98609099		GAexonicUnknownnonsynonymous SNVNM_003496
NM_001244580		c.G11149A
c.G11236A		p.G3717S
p.G3746S		35.0-Wang2016 T
UIMC1     M23121chr5:
176334157-176334157		GAexonicMaternalstopgainNM_001199298
NM_016290
NM_001199297		c.C1870T
c.C1870T
c.C1870T		p.R624X
p.R624X
p.R624X		39.0-Wang2016 T
TRIO     M17604chr5:
14507310-14507310		GAexonicUnknownnonsynonymous SNVNM_007118c.G8692Ap.E2898K36.0-Wang2016 T
GIGYF2     M12526chr2:
233704659-233704659		GAexonicUnknownnonsynonymous SNVNM_001103148
NM_001103146
NM_001103147
NM_015575		c.G2849A
c.G2867A
c.G2930A
c.G2867A		p.R950Q
p.R956Q
p.R977Q
p.R956Q		36.04.135E-5Wang2016 T
PHF2     M03993chr9:
96439868-96439868		AGsplicingUnknownsplicing18.16-Wang2016 T
ANK2     M19795chr4:
114294285-114294285		GAexonicUnknownnonsynonymous SNVNM_020977
NM_001148
NM_001127493		c.G5395A
c.G11650A
c.G5368A		p.E1799K
p.E3884K
p.E1790K		32.08.24E-6Wang2016 T
UNC80     M18352chr2:
210761043-210761043		GAexonicUnknownnonsynonymous SNVNM_032504
NM_182587		c.G4289A
c.G4274A		p.S1430N
p.S1425N		33.0-Wang2016 T
PROX2     M08745chr14:
75323611-75323611		GAexonicUnknownstopgainNM_001080408
NM_001243007		c.C820T
c.C1501T		p.Q274X
p.Q501X		36.0-Wang2016 T
IQGAP3     M02383chr1:
156497764-156497764		GAexonicUnknownstopgainNM_178229c.C4762Tp.R1588X43.02.472E-5Wang2016 T
MECP2     M02413chrX:
153296777-153296777		GAexonicUnknownstopgainNM_001110792
NM_004992
NM_001316337		c.C538T
c.C502T
c.C223T		p.R180X
p.R168X
p.R75X		32.0-Wang2016 T
P4HA2     M26951chr5:
131539503-131539503		GAexonicUnknownstopgainNM_001017973
NM_001017974
NM_004199
NM_001142598
NM_001142599		c.C1189T
c.C1189T
c.C1189T
c.C1189T
c.C1189T		p.R397X
p.R397X
p.R397X
p.R397X
p.R397X		42.08.273E-6Wang2016 T
CHD7     M27795chr8:
61750797-61750797		GAexonicPaternalnonsynonymous SNVNM_017780c.G4516Ap.G1506S34.06.64E-5Wang2016 T
RELN     M19655chr7:
103290810-103290810		GAexonicPaternalnonsynonymous SNVNM_005045
NM_173054		c.C1913T
c.C1913T		p.P638L
p.P638L		31.06.621E-5Wang2016 T
NAV2     M01623chr11:
20067213-20067213		GAexonicPaternalnonsynonymous SNVNM_001111019
NM_001111018
NM_145117
NM_182964
NM_001244963		c.G1157A
c.G3707A
c.G3899A
c.G3899A
c.G3968A		p.R386H
p.R1236H
p.R1300H
p.R1300H
p.R1323H		33.01.0E-4Wang2016 T
ANK3     M13309chr10:
61932868-61932868		GAexonicPaternalnonsynonymous SNVNM_001204404
NM_020987
NM_001204403		c.C2210T
c.C2261T
c.C2243T		p.A737V
p.A754V
p.A748V		36.09.906E-5Wang2016 T
DOCK8     M27798chr9:
325717-325717		GAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447		c.G670A
c.G670A
c.G874A		p.D224N
p.D224N
p.D292N		35.01.0E-4Wang2016 T
WAC     M12417chr10:
28903596-28903596		GAexonicPaternalnonsynonymous SNVNM_100486
NM_016628
NM_100264		c.G1229A
c.G1538A
c.G1403A		p.R410Q
p.R513Q
p.R468Q		33.0-Wang2016 T
Wang2016 T
CTTNBP2     M23828chr7:
117368228-117368228		GAexonicPaternalnonsynonymous SNVNM_033427c.C3970Tp.R1324C32.04.123E-5Wang2016 T
DOCK8     M26909chr9:
325717-325717		GAexonicPaternalnonsynonymous SNVNM_001190458
NM_001193536
NM_203447		c.G670A
c.G670A
c.G874A		p.D224N
p.D224N
p.D292N		35.01.0E-4Wang2016 T
ADGRL2     M18470chr1:
82434986-82434986		GAexonicPaternalnonsynonymous SNVNM_001297705
NM_001297706
NM_012302
NM_001297704		c.G2597A
c.G2597A
c.G2597A
c.G2597A		p.R866Q
p.R866Q
p.R866Q
p.R866Q		34.04.943E-5Wang2016 T
LAMC3     M20699chr9:
133901944-133901944		GAexonicPaternalnonsynonymous SNVNM_006059c.G646Ap.A216T35.01.0E-4Wang2016 T
DSCAM     M08674chr21:
41741085-41741085		GAexonicPaternal