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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-5