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Results for "Mahjani2021"

Variant Events: 155

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
CELF4     Mahjani2021:142chr18:
34855146-34855146		CAexonicnonsynonymous SNVNM_001025087
NM_001025088
NM_001025089
NM_020180		c.G509T
c.G506T
c.G479T
c.G509T		p.R170L
p.R169L
p.R160L
p.R170L		20.48.38E-6Mahjani2021 E
RORB     Mahjani2021:141chr9:
77280437-77280437		GAexonicnonsynonymous SNVNM_006914c.G926Ap.R309H35.0-Mahjani2021 E
DSCAM     Mahjani2021:144chr21:
41447108-41447108		GAexonicstopgainNM_001271534
NM_001389		c.C4744T
c.C4744T		p.Q1582X
p.Q1582X		43.0-Mahjani2021 E
DIP2A     Mahjani2021:143chr21:
47985660-47985660		ACexonicnonsynonymous SNVNM_001146116
NM_015151		c.A4187C
c.A4199C		p.Y1396S
p.Y1400S		19.38.335E-6Mahjani2021 E
TGFBR1     Mahjani2021:5chr9:
101907029-101907029		CAexonicnonsynonymous SNVNM_001130916
NM_001306210
NM_004612		c.C758A
c.C1001A
c.C989A		p.A253D
p.A334D
p.A330D		27.9-Mahjani2021 E
SATB2     Mahjani2021:4chr2:
200233421-200233421		ACexonicnonsynonymous SNVNM_001172509
NM_001172517
NM_015265		c.T607G
c.T607G
c.T607G		p.S203A
p.S203A
p.S203A		23.9-Mahjani2021 E
POGZ     Mahjani2021:7chr1:
151378053-151378055		CCTCexonicframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.3171_3172del
c.3297_3298del
c.3270_3271del
c.3429_3430del
c.3456_3457del		p.T1057fs
p.T1099fs
p.T1090fs
p.T1143fs
p.T1152fs		--Mahjani2021 E
TRIO     Mahjani2021:6chr5:
14374372-14374372		TAexonicnonsynonymous SNVNM_007118c.T3251Ap.F1084Y21.7-Mahjani2021 E
DHX30     Mahjani2021:1chr3:
47890169-47890169		CGexonicnonsynonymous SNVNM_138615
NM_014966		c.C2631G
c.C2514G		p.I877M
p.I838M		12.54-Mahjani2021 E
PIK3CA     Mahjani2021:3chr3:
178947841-178947841		GAexonicnonsynonymous SNVNM_006218c.G2716Ap.V906I35.0-Mahjani2021 E
POGZ     Mahjani2021:2chr1:
151377821-151377822		ACAexonicframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.3404delG
c.3530delG
c.3503delG
c.3662delG
c.3689delG		p.C1135fs
p.C1177fs
p.C1168fs
p.C1221fs
p.C1230fs		--Mahjani2021 E
CACNA1E     Mahjani2021:13chr1:
181480610-181480610		GAexonicnonsynonymous SNVNM_000721
NM_001205293
NM_001205294		c.G476A
c.G476A
c.G476A		p.G159D
p.G159D
p.G159D		27.9-Mahjani2021 E
AFG3L2     Mahjani2021:12chr18:
12358730-12358730		TAexonicnonsynonymous SNVNM_006796c.A965Tp.E322V26.8-Mahjani2021 E
CHD1     Mahjani2021:15chr5:
98228252-98228252		ATexonicnonsynonymous SNVNM_001270c.T2157Ap.S719R19.46-Mahjani2021 E
COL4A3BP     Mahjani2021:14chr5:
74722248-74722248		GTexonicnonsynonymous SNVNM_005713
NM_031361
NM_001130105		c.C404A
c.C404A
c.C788A		p.S135Y
p.S135Y
p.S263Y		29.6-Mahjani2021 E
SUPT16H     Mahjani2021:9chr14:
21834667-21834667		TCexonicnonsynonymous SNVNM_007192c.A977Gp.Y326C18.0-Mahjani2021 E
POGZ     Mahjani2021:8chr1:
151378522-151378522		GAexonicstopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.C2704T
c.C2830T
c.C2803T
c.C2962T
c.C2989T		p.R902X
p.R944X
p.R935X
p.R988X
p.R997X		41.0-Mahjani2021 E
POGZ     Mahjani2021:11chr1:
151396443-151396444		CTCexonicframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.1219delA
c.1345delA
c.1318delA
c.1477delA
c.1504delA		p.R407fs
p.R449fs
p.R440fs
p.R493fs
p.R502fs		--Mahjani2021 E
POGZ     Mahjani2021:10chr1:
151395971-151395971		TCexonicnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.A1295G
c.A1421G
c.A1394G
c.A1553G
c.A1580G		p.D432G
p.D474G
p.D465G
p.D518G
p.D527G		28.6-Mahjani2021 E
PHF21A     Mahjani2021:21chr11:
45970496-45970496		CGexonicnonsynonymous SNVNM_001101802
NM_016621		c.G1226C
c.G1229C		p.R409P
p.R410P		27.5-Mahjani2021 E
LRRC4C     Mahjani2021:20chr11:
40137355-40137355		ATexonicnonsynonymous SNVNM_020929
NM_001258419		c.T488A
c.T488A		p.I163N
p.I163N		16.39-Mahjani2021 E
HK1     Mahjani2021:22chr10:
71154749-71154749		CTexonicnonsynonymous SNVNM_000188
NM_033496
NM_033497
NM_033498
NM_033500		c.C2263T
c.C2260T
c.C2275T
c.C2275T
c.C2227T		p.R755C
p.R754C
p.R759C
p.R759C
p.R743C		23.68.252E-6Mahjani2021 E
PCDH19     Mahjani2021:21chrX:
99663177-99663177		TCexonicnonsynonymous SNVNM_001105243
NM_001184880
NM_020766		c.A419G
c.A419G
c.A419G		p.E140G
p.E140G
p.E140G		19.86-Mahjani2021 E
SOX6     Mahjani2021:17chr11:
15994651-15994651		GTexonicnonsynonymous SNVNM_001145811
NM_017508
NM_001145819
NM_033326		c.C2110A
c.C2119A
c.C2230A
c.C2131A		p.P704T
p.P707T
p.P744T
p.P711T		15.94-Mahjani2021 E
CACNA1E     Mahjani2021:16chr1:
181735745-181735745		CTexonicstopgainNM_001205294
NM_000721
NM_001205293		c.C4822T
c.C4879T
c.C4879T		p.Q1608X
p.Q1627X
p.Q1627X		52.0-Mahjani2021 E
BRPF1     Mahjani2021:19chr3:
9775909-9775909		CGexonicnonsynonymous SNVNM_001003694
NM_004634		c.C85G
c.C85G		p.R29G
p.R29G		10.7-Mahjani2021 E
KCNMA1     Mahjani2021:18chr10:
78647253-78647253		GCexonicnonsynonymous SNVNM_001271518
NM_002247
NM_001014797
NM_001161352
NM_001161353
NM_001271519		c.C3158G
c.C3308G
c.C3320G
c.C3482G
c.C3431G
c.C3398G		p.P1053R
p.P1103R
p.P1107R
p.P1161R
p.P1144R
p.P1133R		19.16-Mahjani2021 E
PIK3CA     Mahjani2021:26chr3:
178916684-178916684		GAexonicnonsynonymous SNVNM_006218c.G71Ap.C24Y18.65-Mahjani2021 E
KMT5B     Mahjani2021:25chr11:
67934472-67934472		GGTexonicframeshift insertionNM_001300909
NM_001300908
NM_016028
NM_017635
NM_001300907		c.1081dupA
c.430dupA
c.1150dupA
c.1150dupA
c.634dupA		p.T361fs
p.T144fs
p.T384fs
p.T384fs
p.T212fs		--Mahjani2021 E
LRP2     Mahjani2021:27chr2:
170034312-170034312		CTsplicingsplicing15.66-Mahjani2021 E
CACNA1C     Mahjani2021:27 Complex Event; expand row to view variants  nonsynonymous SNVNM_000719
NM_001129829
NM_001129830
NM_001129831
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_001167623
NM_001167624
NM_001167625
NM_001129827
NM_001129832
NM_199460
NM_000719
NM_001129829
NM_001129830
NM_001129831
NM_001129833
NM_001129834
NM_001129835
NM_001129836
NM_001129837
NM_001129838
NM_001129839
NM_001129840
NM_001129841
NM_001129842
NM_001129843
NM_001129844
NM_001129846
NM_001167623
NM_001167624
NM_001167625
NM_001129827
NM_001129832
NM_199460		c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3069G
c.C3078G
c.C3078G
c.C3078G
c.C3078G
c.C3138G
c.C3138G
c.C3138G
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3068A
c.T3077A
c.T3077A
c.T3077A
c.T3077A
c.T3137A
c.T3137A
c.T3137A		p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1023M
p.I1026M
p.I1026M
p.I1026M
p.I1026M
p.I1046M
p.I1046M
p.I1046M
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1023N
p.I1026N
p.I1026N
p.I1026N
p.I1026N
p.I1046N
p.I1046N
p.I1046N		23.0-Mahjani2021 E
Mahjani2021 E
YWHAG     Mahjani2021:23chr7:
75959220-75959220		CTexonicnonsynonymous SNVNM_012479c.G418Ap.G140R22.1-Mahjani2021 E
CUL3     Mahjani2021:22chr2:
225371576-225371576		TCexonicnonsynonymous SNVNM_001257197
NM_001257198
NM_003590		c.A830G
c.A1046G
c.A1028G		p.Q277R
p.Q349R
p.Q343R		28.4-Mahjani2021 E
DDX3X     Mahjani2021:24chrX:
41204663-41204663		GAexonicnonsynonymous SNVNM_001193417
NM_001193416
NM_001356		c.G1129A
c.G1177A
c.G1177A		p.A377T
p.A393T
p.A393T		23.1-Mahjani2021 E
PAK3     Mahjani2021:23chrX:
110385380-110385380		CTexonicnonsynonymous SNVNM_001128168
NM_001128172
NM_001128173
NM_001128167
NM_001128166
NM_002578		c.C232T
c.C232T
c.C232T
c.C232T
c.C232T
c.C232T		p.H78Y
p.H78Y
p.H78Y
p.H78Y
p.H78Y
p.H78Y		27.2-Mahjani2021 E
DNM1     Mahjani2021:31chr9:
130981510-130981510		GTexonicunknown36.0-Mahjani2021 E
SMARCA2     Mahjani2021:30chr9:
2073213-2073213		CTexonicnonsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045		c.C1748T
c.C1748T
c.C1748T
c.C1748T		p.P583L
p.P583L
p.P583L
p.P583L		22.0-Mahjani2021 E
FGFR2     Mahjani2021:33chr10:
123279600-123279600		AGexonicnonsynonymous SNVNM_001144916
NM_001144918
NM_023029
NM_001144913
NM_001144915
NM_001144919
NM_000141
NM_001144917
NM_022970		c.T487C
c.T487C
c.T565C
c.T832C
c.T565C
c.T565C
c.T832C
c.T832C
c.T832C		p.C163R
p.C163R
p.C189R
p.C278R
p.C189R
p.C189R
p.C278R
p.C278R
p.C278R		26.0-Mahjani2021 E
KMT5B     Mahjani2021:32chr11:
67947635-67947636		GAGexonicframeshift deletionNM_016028
NM_017635		c.340delT
c.340delT		p.S114fs
p.S114fs		--Mahjani2021 E
AFF4     Mahjani2021:28chr5:
132216864-132216864		GTexonicnonsynonymous SNVNM_014423c.C3379Ap.L1127M12.92-Mahjani2021 E
CAMK2G     Mahjani2021:28chr10:
75602268-75602268		CTexonicnonsynonymous SNVNM_001204492
NM_001222
NM_172169
NM_172170
NM_172171
NM_172173		c.G851A
c.G851A
c.G851A
c.G851A
c.G851A
c.G851A		p.R284H
p.R284H
p.R284H
p.R284H
p.R284H
p.R284H		36.0-Mahjani2021 E
SATB1     Mahjani2021:30chr3:
18390915-18390915		GAexonicnonsynonymous SNVNM_001131010
NM_002971
NM_001195470		c.C2039T
c.C2039T
c.C2135T		p.A680V
p.A680V
p.A712V		15.31-Mahjani2021 E
NIPBL     Mahjani2021:29chr5:
37064849-37064849		GAexonicnonsynonymous SNVNM_133433c.G8270Ap.R2757H18.43-Mahjani2021 E
MTOR     Mahjani2021:38 Complex Event; expand row to view variants  nonsynonymous SNV, stopgainNM_004958
NM_004958		c.C6667T
c.A6668T		p.Q2223X
p.Q2223L		48.0-Mahjani2021 E
Mahjani2021 E
SYNGAP1     Mahjani2021:37chr6:
33411123-33411123		TCexonicnonsynonymous SNVNM_006772c.T2794Cp.F932L21.4-Mahjani2021 E
SMC3     Mahjani2021:40chr10:
112337646-112337646		GCexonicnonsynonymous SNVNM_005445c.G324Cp.Q108H17.62-Mahjani2021 E
SCN8A     Mahjani2021:39chr12:
52200120-52200120		GAexonicnonsynonymous SNVNM_001177984
NM_014191		c.G4727A
c.G4850A		p.R1576Q
p.R1617Q		23.1-Mahjani2021 E
GRIN2B     Mahjani2021:35chr12:
13719963-13719963		CCTGATexonicframeshift insertionNM_000834c.2593_2594insATCAp.S865fs--Mahjani2021 E
HECTD4     Mahjani2021:34chr12:
112697067-112697067		ATexonicstopgainNM_001109662c.T2444Ap.L815X42.0-Mahjani2021 E
EBF3     Mahjani2021:37chr10:
131757198-131757198		CTexonicnonsynonymous SNVNM_001005463c.G485Ap.S162N21.3-Mahjani2021 E
GRIN2B     Mahjani2021:36chr12:
13720137-13720137		TTCATTCTTCTCAexonicframeshift insertionNM_000834c.2419_2420insTGAGAAGAATGp.E807fs--Mahjani2021 E
MEF2C     Mahjani2021:44chr5:
88119580-88119580		GAexonicnonsynonymous SNVNM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347		c.C26T
c.C26T
c.C26T
c.C26T
c.C26T
c.C26T
c.C26T		p.T9M
p.T9M
p.T9M
p.T9M
p.T9M
p.T9M
p.T9M		22.0-Mahjani2021 E
SMARCA2     Mahjani2021:43chr9:
2110399-2110399		CAexonicnonsynonymous SNVNM_001289396
NM_001289397
NM_003070
NM_139045		c.C3438A
c.C3264A
c.C3438A
c.C3438A		p.S1146R
p.S1088R
p.S1146R
p.S1146R		17.77-Mahjani2021 E
GRIN2B     Mahjani2021:46chr12:
13724865-13724865		GAexonicnonsynonymous SNVNM_000834c.C2044Tp.R682C34.0-Mahjani2021 E
SCN8A     Mahjani2021:45chr12:
52200798-52200798		AGexonicnonsynonymous SNVNM_001177984
NM_014191		c.A5405G
c.A5528G		p.H1802R
p.H1843R		16.93-Mahjani2021 E
GRIN2B     Mahjani2021:41chr12:
13724822-13724822		CTexonicnonsynonymous SNVNM_000834c.G2087Ap.R696H35.0-Mahjani2021 E
BRAF     Mahjani2021:40chr7:
140434522-140434522		GAexonicnonsynonymous SNVNM_004333c.C2176Tp.R726C32.0-Mahjani2021 E
KCNQ2     Mahjani2021:42chr20:
62076601-62076601		GCexonicnonsynonymous SNVNM_004518
NM_172106
NM_172107
NM_172108
NM_172109		c.C504G
c.C504G
c.C504G
c.C504G
c.C504G		p.F168L
p.F168L
p.F168L
p.F168L
p.F168L		11.79-Mahjani2021 E
CNOT3     Mahjani2021:42chr19:
54657542-54657542		GAexonicnonsynonymous SNVNM_014516c.G2128Ap.E710K27.0-Mahjani2021 E
KDM5C     Mahjani2021:50chrX:
53240726-53240726		CTexonicnonsynonymous SNVNM_001146702
NM_001282622
NM_004187		c.G1153A
c.G1351A
c.G1354A		p.G385S
p.G451S
p.G452S		29.6-Mahjani2021 E
MORC2     Mahjani2021:50chr22:
31338245-31338245		AGexonicnonsynonymous SNVNM_001303256
NM_001303257
NM_014941		c.T440C
c.T440C
c.T254C		p.L147P
p.L147P
p.L85P		25.5-Mahjani2021 E
IQSEC2     Mahjani2021:52chrX:
53284038-53284038		GAexonicnonsynonymous SNVNM_001111125
NM_015075		c.C1075T
c.C460T		p.R359C
p.R154C		25.4-Mahjani2021 E
CDC42BPB     Mahjani2021:51chr14:
103449961-103449961		GTexonicnonsynonymous SNVNM_006035c.C823Ap.L275I22.6-Mahjani2021 E
GRIN2B     Mahjani2021:48chr12:
13769581-13769581		CTexonicstopgainNM_000834c.G1136Ap.W379X40.0-Mahjani2021 E
GRIN2B     Mahjani2021:47chr12:
13768083-13768083		CTexonicnonsynonymous SNVNM_000834c.G1619Ap.R540H29.6-Mahjani2021 E
ATRX     Mahjani2021:49chrX:
76944372-76944372		AGexonicnonsynonymous SNVNM_138270
NM_000489		c.T419C
c.T533C		p.V140A
p.V178A		17.9-Mahjani2021 E
EFTUD2     Mahjani2021:48chr17:
42929829-42929829		CTexonicnonsynonymous SNVNM_001142605
NM_001258353
NM_001258354
NM_004247		c.G2558A
c.G2663A
c.G2633A
c.G2663A		p.R853Q
p.R888Q
p.R878Q
p.R888Q		35.0-Mahjani2021 E
PPP3CA     Mahjani2021:58chr4:
101947132-101947132		GAexonicnonsynonymous SNVNM_001130692
NM_001130691
NM_000944		c.C1300T
c.C1426T
c.C1456T		p.R434C
p.R476C
p.R486C		20.3-Mahjani2021 E
RALA     Mahjani2021:57chr7:
39726339-39726339		GAexonicnonsynonymous SNVNM_005402c.G73Ap.V25M32.0-Mahjani2021 E
SOX2     Mahjani2021:60chr3:
181430308-181430308		GAexonicnonsynonymous SNVNM_003106c.G160Ap.G54R17.7-Mahjani2021 E
DYNC1H1     Mahjani2021:59chr14:
102471145-102471145		AGexonicnonsynonymous SNVNM_001376c.A5096Gp.N1699S25.1-Mahjani2021 E
BRAF     Mahjani2021:54chr7:
140476813-140476813		CAexonicnonsynonymous SNVNM_004333c.G1593Tp.W531C23.8-Mahjani2021 E
HNRNPH2     Mahjani2021:53chrX:
100667559-100667559		TCexonicnonsynonymous SNVNM_001032393
NM_019597		c.T583C
c.T583C		p.Y195H
p.Y195H		15.11-Mahjani2021 E
ZMIZ1     Mahjani2021:56chr10:
81058884-81058884		AGexonicnonsynonymous SNVNM_020338c.A1744Gp.N582D35.0-Mahjani2021 E
DYNC1H1     Mahjani2021:55chr14:
102469160-102469160		ACexonicnonsynonymous SNVNM_001376c.A4741Cp.K1581Q32.0-Mahjani2021 E
CHD8     Mahjani2021:66chr14:
21871240-21871240		TCexonicnonsynonymous SNVNM_001170629
NM_020920		c.A3650G
c.A2813G		p.N1217S
p.N938S		17.33-Mahjani2021 E
FBXW11     Mahjani2021:65chr5:
171337639-171337639		GAexonicnonsynonymous SNVNM_033645
NM_012300
NM_033644		c.C208T
c.C310T
c.C271T		p.H70Y
p.H104Y
p.H91Y		32.0-Mahjani2021 E
SMARCA4     Mahjani2021:68chr19:
11144847-11144847		CTexonicnonsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.C3823T
c.C3823T
c.C3823T
c.C3823T
c.C3922T
c.C3922T
c.C3922T		p.R1275W
p.R1275W
p.R1275W
p.R1275W
p.R1308W
p.R1308W
p.R1308W		19.3-Mahjani2021 E
GNAO1     Mahjani2021:67chr16:
56368661-56368661		GAexonicnonsynonymous SNVNM_020988
NM_138736		c.G485A
c.G485A		p.R162Q
p.R162Q		36.0-Mahjani2021 E
DYNC1H1     Mahjani2021:62chr14:
102494428-102494428		CTexonicnonsynonymous SNVNM_001376c.C9418Tp.R3140W17.88-Mahjani2021 E
SMARCA4     Mahjani2021:61chr19:
11123787-11123787		TGexonicnonsynonymous SNVNM_001128845
NM_001128846
NM_001128847
NM_001128848
NM_001128849
NM_003072
NM_001128844		c.T2437G
c.T2437G
c.T2437G
c.T2437G
c.T2437G
c.T2437G
c.T2437G		p.S813A
p.S813A
p.S813A
p.S813A
p.S813A
p.S813A
p.S813A		27.8-Mahjani2021 E
DYNC1H1     Mahjani2021:64chr14:
102495928-102495928		GAexonicnonsynonymous SNVNM_001376c.G9521Ap.R3174H36.0-Mahjani2021 E
GLI3     Mahjani2021:63chr7:
42012220-42012220		AGexonicnonsynonymous SNVNM_000168c.T1819Cp.Y607H25.9-Mahjani2021 E
KMT2A     Mahjani2021:74chr11:
118392044-118392044		TCexonicnonsynonymous SNVNM_001197104
NM_005933		c.T11555C
c.T11546C		p.I3852T
p.I3849T		18.93-Mahjani2021 E
SIN3A     Mahjani2021:73chr15:
75692383-75692383		CGexonicnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G1852C
c.G1852C
c.G1852C		p.E618Q
p.E618Q
p.E618Q		34.0-Mahjani2021 E
GRIA3     Mahjani2021:76chrX:
122561908-122561908		TCexonicnonsynonymous SNVNM_000828
NM_007325		c.T1994C
c.T1994C		p.I665T
p.I665T		21.9-Mahjani2021 E
CHD2     Mahjani2021:75chr15:
93541780-93541780		CTexonicstopgainNM_001271c.C3937Tp.R1313X47.0-Mahjani2021 E
TUBB4A     Mahjani2021:70chr19:
6495953-6495953		GCexonicnonsynonymous SNVNM_001289130
NM_001289131
NM_006087
NM_001289123
NM_001289127
NM_001289129		c.C341G
c.C341G
c.C557G
c.C710G
c.C692G
c.C557G		p.T114R
p.T114R
p.T186R
p.T237R
p.T231R
p.T186R		15.56-Mahjani2021 E
CHD8     Mahjani2021:69chr14:
21881116-21881116		TCexonicnonsynonymous SNVNM_001170629
NM_020920		c.A2182G
c.A1345G		p.R728G
p.R449G		20.1-Mahjani2021 E
NAA10     Mahjani2021:72chrX:
153197863-153197863		GAexonicnonsynonymous SNVNM_001256119
NM_001256120
NM_003491		c.C247T
c.C229T
c.C247T		p.R83C
p.R77C
p.R83C		19.38-Mahjani2021 E
KCNB1     Mahjani2021:71chr20:
47991117-47991117		CGexonicnonsynonymous SNVNM_004975c.G980Cp.S327T19.55-Mahjani2021 E
CREBBP     Mahjani2021:82chr16:
3830776-3830776		CTexonicnonsynonymous SNVNM_001079846
NM_004380		c.G1666A
c.G1780A		p.E556K
p.E594K		25.2-Mahjani2021 E
TUBA1A     Mahjani2021:81chr12:
49579334-49579334		TCexonicnonsynonymous SNVNM_001270399
NM_001270400
NM_006009		c.A815G
c.A710G
c.A815G		p.Y272C
p.Y237C
p.Y272C		13.22-Mahjani2021 E
KDM6B     Mahjani2021:84chr17:
7751740-7751740		CTexonicstopgainNM_001080424c.C2134Tp.Q712X39.0-Mahjani2021 E
PPP1R9B     Mahjani2021:83chr17:
48216916-48216916		CTexonicunknown--Mahjani2021 E
CREBBP     Mahjani2021:78chr16:
3828011-3828011		CTsplicingsplicing16.84-Mahjani2021 E
CREBBP     Mahjani2021:77chr16:
3779413-3779413		GAexonicstopgainNM_001079846
NM_004380		c.C5521T
c.C5635T		p.Q1841X
p.Q1879X		49.0-Mahjani2021 E
RPS6KA3     Mahjani2021:80chrX:
20187563-20187563		AGexonicnonsynonymous SNVNM_004586c.T1400Cp.L467P22.0-Mahjani2021 E
GPC3     Mahjani2021:79chrX:
133087190-133087190		CAexonicnonsynonymous SNVNM_001164617
NM_001164618
NM_004484		c.G224T
c.G224T
c.G224T		p.R75I
p.R75I
p.R75I		23.5-Mahjani2021 E
SPRED1     Mahjani2021:90chr15:
38614612-38614612		TCsplicingsplicing23.5-Mahjani2021 E
SCN1A     Mahjani2021:89chr2:
166870273-166870273		ACexonicnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.T3686G
c.T3602G
c.T3653G
c.T3686G		p.L1229R
p.L1201R
p.L1218R
p.L1229R		22.7-Mahjani2021 E
DNMT3A     Mahjani2021:92chr2:
25468153-25468153		AGexonicnonsynonymous SNVNM_153759
NM_022552
NM_175629		c.T956C
c.T1523C
c.T1523C		p.L319P
p.L508P
p.L508P		23.9-Mahjani2021 E
MYT1L     Mahjani2021:91chr2:
1921086-1921086		CGexonicnonsynonymous SNVNM_001303052
NM_015025		c.G1509C
c.G1503C		p.E503D
p.E501D		19.63-Mahjani2021 E
TCF4     Mahjani2021:86chr18:
52896231-52896231		GAexonicstopgainNM_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.C1246T
c.C1234T
c.C1234T
c.C1513T
c.C1324T
c.C1501T
c.C1588T
c.C1654T
c.C1705T
c.C1642T
c.C1726T
c.C1744T
c.C1714T
c.C2032T		p.R416X
p.R412X
p.R412X
p.R505X
p.R442X
p.R501X
p.R530X
p.R552X
p.R569X
p.R548X
p.R576X
p.R582X
p.R572X
p.R678X		39.0-Mahjani2021 E
ASXL3     Mahjani2021:85chr18:
31324020-31324022		TCATexonicframeshift deletionNM_030632c.4209_4210delp.V1403fs--Mahjani2021 E
SCN2A     Mahjani2021:88chr2:
166243526-166243526		GAexonicnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G4822A
c.G4822A
c.G4822A		p.G1608R
p.G1608R
p.G1608R		28.5-Mahjani2021 E
NACC1     Mahjani2021:87chr19:
13246275-13246275		GAexonicnonsynonymous SNVNM_052876c.G254Ap.C85Y22.0-Mahjani2021 E
EHMT1     Mahjani2021:98chr9:
140638516-140638516		AATexonicframeshift insertionNM_001145527
NM_024757		c.1145dupT
c.1145dupT		p.M382fs
p.M382fs		--Mahjani2021 E
TSC1     Mahjani2021:97chr9:
135772850-135772850		CAexonicstopgainNM_001162427
NM_000368
NM_001162426		c.G2620T
c.G2773T
c.G2770T		p.E874X
p.E925X
p.E924X		42.0-Mahjani2021 E
SHANK3     Mahjani2021:100chr22:
51137191-51137191		CAexonicstopgainNM_033517c.C1530Ap.C510X37.0-Mahjani2021 E
EHMT1     Mahjani2021:99chr9:
140652430-140652430		CTexonicstopgainNM_001145527
NM_024757		c.C1468T
c.C1468T		p.R490X
p.R490X		39.0-Mahjani2021 E
ZMYND8     Mahjani2021:94chr20:
45839489-45839490		ATAexonicframeshift deletionNM_001281771
NM_001281781
NM_001281784
NM_001281776
NM_001281778
NM_001281782
NM_001281783
NM_012408
NM_183048
NM_001281775
NM_001281777
NM_001281780
NM_183047
NM_001281772
NM_001281773
NM_001281774
NM_001281779		c.3081delA
c.3183delA
c.3321delA
c.3240delA
c.3462delA
c.3327delA
c.3537delA
c.3399delA
c.3324delA
c.3621delA
c.3408delA
c.2595delA
c.3483delA
c.3477delA
c.3561delA
c.3423delA
c.2679delA		p.G1027fs
p.G1061fs
p.G1107fs
p.G1080fs
p.G1154fs
p.G1109fs
p.G1179fs
p.G1133fs
p.G1108fs
p.G1207fs
p.G1136fs
p.G865fs
p.G1161fs
p.G1159fs
p.G1187fs
p.G1141fs
p.G893fs		--Mahjani2021 E
PPM1D     Mahjani2021:93chr17:
58740658-58740658		GGAAexonicframeshift insertionNM_003620c.1563_1564insAAp.M521fs--Mahjani2021 E
DIP2A     Mahjani2021:96chr21:
47976006-47976006		TCsplicingsplicing15.5-Mahjani2021 E
ADNP     Mahjani2021:95chr20:
49508932-49508934		CTTCexonicframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2317_2318del
c.2317_2318del
c.2317_2318del
c.2317_2318del		p.K773fs
p.K773fs
p.K773fs
p.K773fs		--Mahjani2021 E
FOXP1     Mahjani2021:106chr3:
71026184-71026184		CTexonicnonsynonymous SNVNM_001244813
NM_001244812
NM_001244815
NM_001244814
NM_001244816
NM_001244808
NM_001244810
NM_032682		c.G1138A
c.G1210A
c.G1444A
c.G1438A
c.G1438A
c.G1435A
c.G1438A
c.G1438A		p.E380K
p.E404K
p.E482K
p.E480K
p.E480K
p.E479K
p.E480K
p.E480K		25.7-Mahjani2021 E
TNRC6B     Mahjani2021:105chr22:
40696585-40696585		CTexonicstopgainNM_015088
NM_001162501
NM_001024843		c.C3505T
c.C3835T
c.C1423T		p.Q1169X
p.Q1279X
p.Q475X		44.0-Mahjani2021 E
HK1     Mahjani2021:108chr10:
71154791-71154791		CTexonicstopgainNM_000188
NM_033496
NM_033497
NM_033498
NM_033500		c.C2305T
c.C2302T
c.C2317T
c.C2317T
c.C2269T		p.R769X
p.R768X
p.R773X
p.R773X
p.R757X		41.0-Mahjani2021 E
KIF2A     Mahjani2021:107chr5:
61677022-61677022		TAexonicstopgainNM_001243953
NM_004520
NM_001098511
NM_001243952		c.T1920A
c.T1977A
c.T2091A
c.T1917A		p.Y640X
p.Y659X
p.Y697X
p.Y639X		37.0-Mahjani2021 E
SATB1     Mahjani2021:102chr3:
18393675-18393675		CTexonicnonsynonymous SNVNM_001131010
NM_001195470
NM_002971		c.G1588A
c.G1588A
c.G1588A		p.E530K
p.E530K
p.E530K		35.0-Mahjani2021 E
PIK3R2       Mahjani2021:101chr19:
18277045-18277047		CAACexonicframeshift deletionNM_005027c.1493_1494delp.Q498fs--Mahjani2021 E
SATB1     Mahjani2021:104chr3:
18462419-18462419		GTexonicstopgainNM_001131010
NM_001195470
NM_002971		c.C41A
c.C41A
c.C41A		p.S14X
p.S14X
p.S14X		38.0-Mahjani2021 E
SATB1     Mahjani2021:103chr3:
18456652-18456652		ACexonicnonsynonymous SNVNM_001131010
NM_001195470
NM_002971		c.T590G
c.T590G
c.T590G		p.L197R
p.L197R
p.L197R		19.31-Mahjani2021 E
ANK2     Mahjani2021:114chr4:
114238862-114238862		GAsplicingsplicing21.4-Mahjani2021 E
LRP2     Mahjani2021:113chr2:
170127414-170127414		CAexonicstopgainNM_004525c.G2320Tp.G774X42.0-Mahjani2021 E
BRSK2     Mahjani2021:116chr11:
1471918-1471918		GGCexonicframeshift insertionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957		c.1390dupC
c.1390dupC
c.1528dupC
c.1210dupC
c.1390dupC		p.T463fs
p.T463fs
p.T509fs
p.T403fs
p.T463fs		--Mahjani2021 E
KDM5B     Mahjani2021:115chr1:
202702911-202702911		AATexonicframeshift insertionNM_006618
NM_001314042		c.3526dupA
c.3634dupA		p.I1176fs
p.I1212fs		--Mahjani2021 E
FOXP1     Mahjani2021:110chr3:
71027005-71027016		TCTGAGTACCGCTexonicframeshift deletionNM_001244813
NM_001244812
NM_001244815
NM_001244814
NM_001244816
NM_001244808
NM_001244810
NM_032682		c.1011_1021del
c.1083_1093del
c.1317_1327del
c.1311_1321del
c.1311_1321del
c.1311_1321del
c.1311_1321del
c.1311_1321del		p.R337fs
p.R361fs
p.R439fs
p.R437fs
p.R437fs
p.R437fs
p.R437fs
p.R437fs		--Mahjani2021 E
WDFY3     Mahjani2021:109chr4:
85609277-85609277		GAexonicstopgainNM_014991c.C9505Tp.R3169X52.0-Mahjani2021 E
SETD5     Mahjani2021:112chr3:
9483280-9483280		CTexonicstopgainNM_001080517
NM_001292043		c.C814T
c.C520T		p.Q272X
p.Q174X		43.0-Mahjani2021 E
SETD5     Mahjani2021:111chr3:
9482170-9482170		GTexonicstopgainNM_001080517
NM_001292043		c.G598T
c.G304T		p.E200X
p.E102X		42.0-Mahjani2021 E
SAMD9     Mahjani2021:122chr7:
92731069-92731069		GAexonicstopgainNM_001193307
NM_017654		c.C4342T
c.C4342T		p.Q1448X
p.Q1448X		40.0-Mahjani2021 E
LZTR1     Mahjani2021:121chr22:
21341837-21341837		CAexonicstopgainNM_006767c.C365Ap.S122X41.0-Mahjani2021 E
CNKSR2     Mahjani2021:124chrX:
21550164-21550164		CTexonicstopgainNM_001168649
NM_001168647
NM_001168648
NM_014927		c.C1135T
c.C1282T
c.C1282T
c.C1282T		p.R379X
p.R428X
p.R428X
p.R428X		37.0-Mahjani2021 E
ARHGEF9     Mahjani2021:123chrX:
62893941-62893941		GAexonicstopgainNM_001173479
NM_001173480
NM_015185		c.C742T
c.C595T
c.C901T		p.Q248X
p.Q199X
p.Q301X		47.0-Mahjani2021 E
JARID2     Mahjani2021:118chr6:
15410598-15410598		TGsplicingsplicing21.3-Mahjani2021 E
USP7     Mahjani2021:117chr16:
9009148-9009148		ACexonicstopgainNM_001286457
NM_003470
NM_001286458		c.T993G
c.T1041G
c.T744G		p.Y331X
p.Y347X
p.Y248X		38.0-Mahjani2021 E
TANC2     Mahjani2021:120chr17:
61498858-61498858		CTexonicstopgainNM_025185c.C5515Tp.R1839X43.0-Mahjani2021 E
SOX10     Mahjani2021:119chr22:
38379546-38379547		GCGexonicframeshift deletionNM_006941c.245delGp.G82fs--Mahjani2021 E
PPP2R5D     Mahjani2021:130chr6:
42975009-42975009		GAexonicnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.G280A
c.G145A
c.G598A
c.G502A		p.E94K
p.E49K
p.E200K
p.E168K		36.0-Mahjani2021 E
SYNGAP1     Mahjani2021:129chr6:
33414425-33414427		ATGAexonicframeshift deletionNM_006772c.3657_3658delp.Y1219fs--Mahjani2021 E
FOXP2     Mahjani2021:132chr7:
114292289-114292289		CTexonicstopgainNM_148899
NM_001172766
NM_001172767
NM_014491
NM_148898
NM_148900		c.C1126T
c.C1123T
c.C1201T
c.C1126T
c.C1201T
c.C1177T		p.R376X
p.R375X
p.R401X
p.R376X
p.R401X
p.R393X		28.6-Mahjani2021 E
GIGYF1     Mahjani2021:131chr7:
100284964-100284964		GAexonicstopgainNM_022574c.C439Tp.R147X47.0-Mahjani2021 E
GABRB2     Mahjani2021:126chr5:
160763745-160763745		GCexonicstopgainNM_000813
NM_021911		c.C573G
c.C573G		p.Y191X
p.Y191X		37.0-Mahjani2021 E
NR3C2     Mahjani2021:125chr4:
149041407-149041407		ATexonicnonsynonymous SNVNM_001166104
NM_000901		c.T2192A
c.T2543A		p.L731Q
p.L848Q		16.23-Mahjani2021 E
ARID1B     Mahjani2021:128chr6:
157517445-157517445		CTexonicstopgainNM_017519
NM_020732		c.C3970T
c.C4009T		p.R1324X
p.R1337X		43.0-Mahjani2021 E
NUP155     Mahjani2021:127chr5:
37305245-37305245		GAexonicstopgainNM_001278312
NM_004298
NM_153485		c.C2779T
c.C2794T
c.C2971T		p.Q927X
p.Q932X
p.Q991X		41.0-Mahjani2021 E
KMT2A     Mahjani2021:138chr11:
118375878-118375878		CCTexonicframeshift insertionNM_001197104
NM_005933		c.9272dupT
c.9263dupT		p.L3091fs
p.L3088fs		--Mahjani2021 E
SCN8A     Mahjani2021:137chr12:
52093426-52093426		TCexonicnonsynonymous SNVNM_001177984
NM_014191		c.T779C
c.T779C		p.F260S
p.F260S		23.9-Mahjani2021 E
IQSEC2     Mahjani2021:140chrX:
53268477-53268477		CTsplicingsplicing27.0-Mahjani2021 E
CDKL5     Mahjani2021:139chrX:
18602382-18602382		GCsplicingsplicing14.61-Mahjani2021 E
STXBP1     Mahjani2021:134chr9:
130444788-130444788		CTexonicnonsynonymous SNVNM_001032221
NM_003165		c.C1651T
c.C1651T		p.R551C
p.R551C		34.0-Mahjani2021 E
STXBP1     Mahjani2021:133chr9:
130438087-130438087		TGexonicnonsynonymous SNVNM_001032221
NM_003165		c.T1115G
c.T1115G		p.L372R
p.L372R		26.4-Mahjani2021 E
RORB     Mahjani2021:136chr9:
77277517-77277517		AGexonicnonsynonymous SNVNM_006914c.A887Gp.K296R25.8-Mahjani2021 E
TEK     Mahjani2021:135chr9:
27173276-27173276		GTexonicstopgainNM_001290078
NM_000459
NM_001290077		c.G505T
c.G817T
c.G817T		p.G169X
p.G273X
p.G273X		37.0-Mahjani2021 E
Source Variant Information

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Paper Information
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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.
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