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Results for "Wang2020"

Variant Events: 1891

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
MYH9     Leuven_209185chr22:
36700183-36700183		CTexonicUnknownnonsynonymous SNVNM_002473c.G2248Ap.D750N20.8-Wang2020 T
KMT5B     ACGC_SD0199.p1chr11:
67942510-67942510		AGexonicUnknownnonsynonymous SNVNM_001300909
NM_016028
NM_017635
NM_001300907		c.T449C
c.T518C
c.T518C
c.T2C		p.M150T
p.M173T
p.M173T
p.M1T		13.05-Wang2020 T
MYH9     Greenwood_Cms23868chr22:
36745116-36745116		CTexonicUnknownnonsynonymous SNVNM_002473c.G166Ap.V56M22.9-Wang2020 T
MYH9     SAGE_435.03chr22:
36680242-36680242		GAexonicUnknownnonsynonymous SNVNM_002473c.C5662Tp.R1888W22.61.701E-5Wang2020 T
KMT5B     ACGC_M15194chr11:
67938486-67938486		CTexonicUnknownnonsynonymous SNVNM_001300909
NM_001300908
NM_016028
NM_017635
NM_001300907		c.G904A
c.G253A
c.G973A
c.G973A
c.G457A		p.E302K
p.E85K
p.E325K
p.E325K
p.E153K		24.3-Wang2020 T
KMT5B     Leuven2_60407442chr11:
67925243-67925243		CTexonicUnknownnonsynonymous SNVNM_001300908
NM_017635
NM_001300907		c.G1850A
c.G2570A
c.G2054A		p.R617H
p.R857H
p.R685H		25.0-Wang2020 T
KMT5B     ACGC_GX0295.p1chr11:
67934646-67934646		CTsplicingUnknownsplicing21.5-Wang2020 T
KMT5B     TASC_215-13198-2154chr11:
67938521-67938521		CTexonicUnknownnonsynonymous SNVNM_001300909
NM_001300908
NM_016028
NM_017635
NM_001300907		c.G869A
c.G218A
c.G938A
c.G938A
c.G422A		p.G290E
p.G73E
p.G313E
p.G313E
p.G141E		31.0-Wang2020 T
MYH9     SAGE_252.03chr22:
36680224-36680224		GAexonicUnknownnonsynonymous SNVNM_002473c.C5680Tp.R1894W18.898.362E-6Wang2020 T
MYH9     SAGE_T175_03chr22:
36701102-36701102		CTexonicUnknownnonsynonymous SNVNM_002473c.G2206Ap.G736R32.08.271E-6Wang2020 T
MYH9     Gecz3_41453chr22:
36684817-36684817		GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Wang2020 T
MYH9     TASC_215-13209-2343chr22:
36688078-36688078		CTexonicUnknownnonsynonymous SNVNM_002473c.G4298Ap.R1433H19.561.648E-5Wang2020 T
MYH9     SanDiego_V9F9Lchr22:
36681730-36681730		CTexonicUnknownnonsynonymous SNVNM_002473c.G5248Ap.D1750N36.08.347E-6Wang2020 T
MYH9     SanDiego_S5K6Bchr22:
36681730-36681730		CTexonicUnknownnonsynonymous SNVNM_002473c.G5248Ap.D1750N36.08.347E-6Wang2020 T
MYH9     Naples_7609chr22:
36702058-36702058		GAexonicUnknownnonsynonymous SNVNM_002473c.C2077Tp.R693C27.81.663E-5Wang2020 T
MYH9     ITAN_726chr22:
36680275-36680275		GAexonicUnknownnonsynonymous SNVNM_002473c.C5629Tp.R1877W24.26.179E-5Wang2020 T
MYT1L     AGRE_AU002404chr2:
1805544-1805544		TAexonicUnknownnonsynonymous SNVNM_001303052
NM_015025		c.A3200T
c.A3194T		p.Q1067L
p.Q1065L		24.31.657E-5Wang2020 T
MYT1L     AGRE_04C33840chr2:
1805544-1805544		TAexonicUnknownnonsynonymous SNVNM_001303052
NM_015025		c.A3200T
c.A3194T		p.Q1067L
p.Q1065L		24.31.657E-5Wang2020 T
NCKAP1     Iowa_125_3_a.2.1chr2:
183822200-183822200		CGexonicUnknownnonsynonymous SNVNM_013436
NM_205842		c.G2006C
c.G2024C		p.R669T
p.R675T		28.0-Wang2020 T
NAA15     SAGE_146.03chr4:
140262155-140262155		GAexonicUnknownnonsynonymous SNVNM_057175c.G334Ap.D112N36.0-Wang2020 T
MYH9     Gecz2_32874chr22:
36684817-36684817		GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Wang2020 T
MYH9     Gecz3_42057chr22:
36684817-36684817		GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Wang2020 T
MYT1L     SanDiego_H5B6Cchr2:
1926586-1926586		CTexonicUnknownnonsynonymous SNVNM_001303052
NM_015025		c.G955A
c.G955A		p.D319N
p.D319N		26.9-Wang2020 T
MYT1L     Leuven_209185chr2:
1914112-1914112		CTexonicUnknownnonsynonymous SNVNM_001303052
NM_015025		c.G1717A
c.G1711A		p.G573R
p.G571R		28.6-Wang2020 T
NCOR1     ACGC_M13346chr17:
16062162-16062162		TAexonicUnknownnonsynonymous SNVNM_001190438
NM_001190440
NM_006311		c.A317T
c.A644T
c.A644T		p.K106I
p.K215I
p.K215I		16.22-Wang2020 T
NCOR1     ACGC_M20828chr17:
16056693-16056693		GAexonicUnknownnonsynonymous SNVNM_001190438
NM_001190440
NM_006311		c.C422T
c.C749T
c.C749T		p.A141V
p.A250V
p.A250V		16.99-Wang2020 T
NCOR1     Leuven_254271chr17:
15983343-15983343		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C3484T
c.C3436T		p.R1162W
p.R1146W		23.12.471E-5Wang2020 T
NCOR1     ACGC_GX0255.p1chr17:
16075191-16075191		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C361T
c.C361T		p.R121C
p.R121C		14.92-Wang2020 T
NCKAP1     Greenwood_Cms23890chr2:
183848088-183848088		GAexonicUnknownnonsynonymous SNVNM_013436
NM_205842		c.C1027T
c.C1045T		p.R343C
p.R349C		23.01.649E-5Wang2020 T
NCKAP1     Greenwood_Cms23002achr2:
183848088-183848088		GAexonicUnknownnonsynonymous SNVNM_013436
NM_205842		c.C1027T
c.C1045T		p.R343C
p.R349C		23.01.649E-5Wang2020 T
NCOR1     ACGC_M31830chr17:
15950397-15950397		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C6238T
c.C6547T		p.R2080C
p.R2183C		15.654.183E-5Wang2020 T
NCOR1     Iowa_148_1_a.2.1chr17:
15978871-15978871		CTexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.G3695A
c.G3647A		p.S1232N
p.S1216N		16.53-Wang2020 T
NFIA     ACGC_GX0482.p1chr1:
61824863-61824863		CGexonicUnknownnonsynonymous SNVNM_001134673
NM_001145511
NM_005595
NM_001145512		c.C863G
c.C839G
c.C863G
c.C998G		p.P288R
p.P280R
p.P288R
p.P333R		27.3-Wang2020 T
NCOR1     Leuven2_64803513chr17:
15938257-15938257		TCexonicUnknownsynonymous SNVNM_001190440
NM_006311		c.A6648G
c.A6957G		p.G2216G
p.G2319G		16.112.0E-4Wang2020 T
NFIA     ACGC_M18917chr1:
61892190-61892190		CTexonicUnknownnonsynonymous SNVNM_001134673
NM_001145511
NM_001145512		c.C1474T
c.C1450T
c.C1609T		p.R492W
p.R484W
p.R537W		25.2-Wang2020 T
NFIA     ACGC_HN0055.p1chr1:
61892161-61892161		CTexonicUnknownnonsynonymous SNVNM_001134673
NM_001145511
NM_001145512		c.C1445T
c.C1421T
c.C1580T		p.P482L
p.P474L
p.P527L		23.6-Wang2020 T
NCOR1     ACGC_HEN0241.p1chr17:
15950299-15950299		CGexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.G6336C
c.G6645C		p.K2112N
p.K2215N		22.28.24E-6Wang2020 T
NCOR1     ACGC_M17481chr17:
15950299-15950299		CGexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.G6336C
c.G6645C		p.K2112N
p.K2215N		22.28.24E-6Wang2020 T
NCOR1     ACGC_HEN0088.p1chr17:
15950303-15950303		CTexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.G6332A
c.G6641A		p.R2111H
p.R2214H		18.681.648E-5Wang2020 T
NCOR1     Leuven2_60681732chr17:
15961250-15961250		GAexonicUnknownnonsynonymous SNVNM_001190440
NM_006311		c.C5830T
c.C6139T		p.R1944W
p.R2047W		23.58.255E-6Wang2020 T
NRXN1     AGRE_03C23225chr2:
50733684-50733684		GAexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.C2446T
c.C2566T		p.R816W
p.R856W		20.81.706E-5Wang2020 T
NRXN1     ACGC_M27849chr2:
51255153-51255153		CAexonicUnknownnonsynonymous SNVNM_001135659
NM_004801		c.G259T
c.G259T		p.G87C
p.G87C		25.1-Wang2020 T
NRXN1     ACGC_GD0072.p1chr2:
50149288-50149288		CTexonicUnknownnonsynonymous SNVNM_138735
NM_004801
NM_001135659		c.G1123A
c.G4228A
c.G4438A		p.A375T
p.A1410T
p.A1480T		25.98.239E-6Wang2020 T
NRXN1     AGRE_AU1165302chr2:
50733684-50733684		GAexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.C2446T
c.C2566T		p.R816W
p.R856W		20.81.706E-5Wang2020 T
SCN2A     14525.p1chr2:
166152367-166152367		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G34A
c.G34A
c.G34A		p.D12N
p.D12N
p.D12N		13.34-Wang2020 T
NRXN1     ACGC_HN0187.p1chr2:
50282131-50282131		CAexonicUnknownnonsynonymous SNVNM_001135659c.G3890Tp.R1297L18.47-Wang2020 T
NRXN1     ACGC_SX0028.p1chr2:
50758385-50758393		ACACGTCCTAGexonicUnknownframeshift substitutionNM_004801
NM_001135659		c.2319_2326C
c.2439_2446C		N/A
N/A		--Wang2020 T
NRXN1     ACGC_SX0080.p1chr2:
50724511-50724511		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G2839A
c.G2959A		p.G947R
p.G987R		32.0-Wang2020 T
SCN2A     ASDFI_732chr2:
166152578-166152578		AGexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A245G
c.A245G
c.A245G		p.D82G
p.D82G
p.D82G		19.73-Wang2020 T
NRXN1     ACGC_SD0017.p1chr2:
50723223-50723223		ATexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.T2890A
c.T3010A		p.Y964N
p.Y1004N		23.1-Wang2020 T
PASK     ACGC_SD0137.p1chr2:
242065839-242065843		CCAAACexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.2487_2490del
c.2382_2385del
c.2487_2490del
c.2487_2490del
c.2487_2490del		p.C829fs
p.C794fs
p.C829fs
p.C829fs
p.C829fs		--Wang2020 T
PASK     AGRE_AU054103chr2:
242051687-242051692		CTCGATCCexonicUnknownframeshift substitutionNM_001252119
NM_001252122
NM_015148
NM_001252120		c.3517_3521G
c.3391_3395G
c.3496_3500G
c.3496_3500G		N/A
N/A
N/A
N/A		--Wang2020 T
PASK     ACGC_HEN442.p1chr2:
242066538-242066538		TTGexonicUnknownframeshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.1791dupC
c.1686dupC
c.1791dupC
c.1791dupC
c.1791dupC		p.K598fs
p.K563fs
p.K598fs
p.K598fs
p.K598fs		--Wang2020 T
PASK     ACGC_JS0041.p1chr2:
242066538-242066538		TTGexonicUnknownframeshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.1791dupC
c.1686dupC
c.1791dupC
c.1791dupC
c.1791dupC		p.K598fs
p.K563fs
p.K598fs
p.K598fs
p.K598fs		--Wang2020 T
NRXN1     ACGC_M23182chr2:
50724852-50724852		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G2498A
c.G2618A		p.G833D
p.G873D		28.9-Wang2020 T
NRXN1     ACGC_HEN0045.p1chr2:
50724852-50724852		CTexonicUnknownnonsynonymous SNVNM_004801
NM_001135659		c.G2498A
c.G2618A		p.G833D
p.G873D		28.9-Wang2020 T
SCN2A     DEASD_0143_001chr2:
166170231-166170231		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G1136A
c.G1136A
c.G1136A		p.R379H
p.R379H
p.R379H		35.0-Wang2020 T
PASK     TASC_217-14389-4980chr2:
242080086-242080087		AGAexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.278delC
c.278delC
c.278delC
c.278delC
c.278delC		p.P93fs
p.P93fs
p.P93fs
p.P93fs
p.P93fs		--Wang2020 T
CASZ1     AU2029302chr1:
10699877-10699877		AAAexonicDe novoframeshift insertionNM_001079843c.4402dupTp.F1468fs--Wang2020 T
PASK     TASC_217-14268-3910chr2:
242080086-242080087		AGAexonicUnknownframeshift deletionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.278delC
c.278delC
c.278delC
c.278delC
c.278delC		p.P93fs
p.P93fs
p.P93fs
p.P93fs
p.P93fs		--Wang2020 T
PASK     ACGC_M17532chr2:
242051689-242051689		CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_015148
NM_001252120		c.G3520A
c.G3394A
c.G3499A
c.G3499A		p.E1174K
p.E1132K
p.E1167K
p.E1167K		25.98.247E-6Wang2020 T
PASK     ACGC_M27801chr2:
242078107-242078107		CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G703A
c.G703A
c.G703A
c.G703A
c.G703A		p.V235M
p.V235M
p.V235M
p.V235M
p.V235M		23.31.648E-5Wang2020 T
PASK     Iowa_226_2_a.2.1chr2:
242082329-242082329		GTexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.C119A
c.C119A
c.C119A
c.C119A
c.C119A		p.S40X
p.S40X
p.S40X
p.S40X
p.S40X		41.0-Wang2020 T
PASK     TASC_211-5274-3chr2:
242051855-242051855		CTsplicingUnknownsplicing14.42-Wang2020 T
SCN2A     10C109819chr2:
166183403-166183403		TTAexonicUnknownframeshift insertionNM_001040143
NM_001040142
NM_021007		c.2058_2059insA
c.2058_2059insA
c.2058_2059insA		p.S686fs
p.S686fs
p.S686fs		--Wang2020 T
PASK     TASC_217-14289-4100chr2:
242078125-242078125		CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G685A
c.G685A
c.G685A
c.G685A
c.G685A		p.V229M
p.V229M
p.V229M
p.V229M
p.V229M		23.7-Wang2020 T
PASK     ACGC_SX0059.p1chr2:
242066538-242066538		TTGexonicUnknownframeshift insertionNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.1791dupC
c.1686dupC
c.1791dupC
c.1791dupC
c.1791dupC		p.K598fs
p.K563fs
p.K598fs
p.K598fs
p.K598fs		--Wang2020 T
PASK     ACGC_M12492chr2:
242078107-242078107		CTexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G703A
c.G703A
c.G703A
c.G703A
c.G703A		p.V235M
p.V235M
p.V235M
p.V235M
p.V235M		23.31.648E-5Wang2020 T
PASK     SAGE_BK_722_01chr2:
242062182-242062182		CAexonicUnknownnonsynonymous SNVNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G3037T
c.G2932T
c.G3037T
c.G3037T
c.G3037T		p.V1013L
p.V978L
p.V1013L
p.V1013L
p.V1013L		27.3-Wang2020 T
SCN2A     14280.p1chr2:
166201311-166201311		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2809T
c.C2809T
c.C2809T		p.R937C
p.R937C
p.R937C		29.0-Wang2020 T
PAX5     AGRE_AU2581301chr9:
36882073-36882073		CTexonicUnknownnonsynonymous SNVNM_001280553
NM_001280554
NM_001280556
NM_001280548
NM_016734		c.G811A
c.G811A
c.G616A
c.G940A
c.G940A		p.G271R
p.G271R
p.G206R
p.G314R
p.G314R		34.0-Wang2020 T
PAX5     ACGC_SD0220.p1chr9:
36846911-36846911		CTexonicUnknownnonsynonymous SNVNM_001280549
NM_001280555
NM_001280547
NM_001280554
NM_001280556
NM_016734		c.G796A
c.G728A
c.G926A
c.G899A
c.G704A
c.G1028A		p.G266R
p.G243E
p.G309E
p.G300E
p.G235E
p.G343E		23.8-Wang2020 T
SCN2A     NDAR_INVTZ957VTW_wes1chr2:
166201312-166201312		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2810A
c.G2810A
c.G2810A		p.R937H
p.R937H
p.R937H		33.0-Wang2020 T
SCN2A     11892.p1chr2:
166201379-166201379		CAexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Wang2020 T
PHF7     ACGC_HN0231.p1chr3:
52448524-52448534		GCCTTCGAGAAGexonicUnknownframeshift deletionNM_001278221
NM_016483		c.108_117del
c.108_117del		p.C36fs
p.C36fs		--Wang2020 T
PAX5     ACGC_SD0216.p1chr9:
36840551-36840551		CTexonicUnknownstopgainNM_001280550
NM_001280549		c.G863A
c.G950A		p.W288X
p.W317X		12.923.03E-5Wang2020 T
PAX5     Melbourne2_ASD_1525chr9:
36840564-36840564		CTexonicUnknownnonsynonymous SNVNM_001280550
NM_001280551
NM_001280549
NM_001280552
NM_001280553
NM_001280555
NM_001280547
NM_001280548
NM_001280554
NM_001280556
NM_016734		c.G850A
c.G656A
c.G937A
c.G980A
c.G953A
c.G869A
c.G1067A
c.G1082A
c.G1040A
c.G845A
c.G1169A		p.V284I
p.R219H
p.V313I
p.R327H
p.R318H
p.R290H
p.R356H
p.R361H
p.R347H
p.R282H
p.R390H		23.6-Wang2020 T
SCN2A     11114.p1chr2:
166210819-166210819		GTexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.G3037T
c.G3037T
c.G3037T		p.G1013X
p.G1013X
p.G1013X		40.0-Wang2020 T
PASK     ACGC_GD0025.p1chr2:
242078087-242078087		CTexonicUnknownstopgainNM_001252119
NM_001252122
NM_001252124
NM_015148
NM_001252120		c.G723A
c.G723A
c.G723A
c.G723A
c.G723A		p.W241X
p.W241X
p.W241X
p.W241X
p.W241X		39.02.472E-5Wang2020 T
PAX5     SAGE_BK849-01chr9:
37020669-37020669		CTexonicUnknownnonsynonymous SNVNM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_001280555
NM_016734		c.G176A
c.G176A
c.G176A
c.G176A
c.G176A
c.G176A
c.G176A
c.G176A
c.G176A		p.R59Q
p.R59Q
p.R59Q
p.R59Q
p.R59Q
p.R59Q
p.R59Q
p.R59Q
p.R59Q		26.8-Wang2020 T
PAX5     Melbourne2_ASD_1537chr9:
36840564-36840564		CTexonicUnknownnonsynonymous SNVNM_001280550
NM_001280551
NM_001280549
NM_001280552
NM_001280553
NM_001280555
NM_001280547
NM_001280548
NM_001280554
NM_001280556
NM_016734		c.G850A
c.G656A
c.G937A
c.G980A
c.G953A
c.G869A
c.G1067A
c.G1082A
c.G1040A
c.G845A
c.G1169A		p.V284I
p.R219H
p.V313I
p.R327H
p.R318H
p.R290H
p.R356H
p.R361H
p.R347H
p.R282H
p.R390H		23.6-Wang2020 T
PHIP     ACGC_HEN432.p1chr6:
79664655-79664655		CTexonicUnknownnonsynonymous SNVNM_017934c.G3929Ap.R1310H23.0-Wang2020 T
PHIP     Leuven2_60757044chr6:
79724852-79724852		CTexonicUnknownnonsynonymous SNVNM_017934c.G1471Ap.V491M18.51-Wang2020 T
SCN2A     13544.p1chr2:
166231378-166231378		TCexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.T4156C
c.T4156C
c.T4156C		p.C1386R
p.C1386R
p.C1386R		15.44-Wang2020 T
PHIP     ACGC_M17483chr6:
79752571-79752571		GAexonicUnknownnonsynonymous SNVNM_017934c.C589Tp.R197W20.78.274E-6Wang2020 T
SCN2A     13642.p1chr2:
166234111-166234111		CTexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C4259T
c.C4259T
c.C4259T		p.T1420M
p.T1420M
p.T1420M		28.0-Wang2020 T
PHIP     ACGC_SD0349.p1chr6:
79735788-79735788		CTexonicUnknownnonsynonymous SNVNM_017934c.G694Ap.A232T28.7-Wang2020 T
PHF7     Leuven2_63465272chr3:
52453937-52453937		GAexonicUnknownnonsynonymous SNVNM_001278221
NM_016483		c.G275A
c.G275A		p.R92Q
p.R92Q		20.31.243E-5Wang2020 T
PHF7     ACGC_SD0326.p1chr3:
52457318-52457318		CCAexonicUnknownframeshift insertionNM_001278221
NM_016483		c.1015dupA
c.1132dupA		p.C338fs
p.C377fs		--Wang2020 T
PHF7     Leuven2_60433376chr3:
52445223-52445223		GAUTR5Unknown--Wang2020 T
PHF7     AGRE_AU050703chr3:
52457106-52457106		GCsplicingUnknownsplicing16.91-Wang2020 T
Wang2020 T
SCN2A     DEASD_0262_001chr2:
166245137-166245137		ATsplicingUnknownsplicing12.35-Wang2020 T
POGZ     TASC_210-18172-301chr1:
151380703-151380703		GAexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.C1963T
c.C2089T
c.C2062T
c.C2221T
c.C2248T		p.R655W
p.R697W
p.R688W
p.R741W
p.R750W		18.84-Wang2020 T
PHIP     Courchesne_L9U2Vchr6:
79680560-79680560		GAexonicUnknownnonsynonymous SNVNM_017934c.C2935Tp.R979W21.48.637E-6Wang2020 T
POGZ     Leuven2_70146436chr1:
151402166-151402166		GAexonicUnknownnonsynonymous SNVNM_207171
NM_001194938
NM_001194937
NM_015100		c.C322T
c.C322T
c.C481T
c.C481T		p.R108W
p.R108W
p.R161W
p.R161W		22.4-Wang2020 T
POGZ     TASC_210-18172-302chr1:
151380703-151380703		GAexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.C1963T
c.C2089T
c.C2062T
c.C2221T
c.C2248T		p.R655W
p.R697W
p.R688W
p.R741W
p.R750W		18.84-Wang2020 T
PHIP     Melbourne2_ASD_1165chr6:
79655086-79655086		GAexonicUnknownnonsynonymous SNVNM_017934c.C4759Tp.R1587C21.58.238E-6Wang2020 T
PHIP     ACGC_HEN0286.p1chr6:
79655085-79655085		CTexonicUnknownnonsynonymous SNVNM_017934c.G4760Ap.R1587H22.88.238E-6Wang2020 T
PHIP     ACGC_M23723chr6:
79680592-79680592		CTexonicUnknownnonsynonymous SNVNM_017934c.G2903Ap.R968Q19.839.898E-6Wang2020 T
PHIP     ACGC_GX0478.p1chr6:
79664656-79664656		GAexonicUnknownnonsynonymous SNVNM_017934c.C3928Tp.R1310C25.78.381E-6Wang2020 T
PPP2R5D     ACGC_M18396chr6:
42975224-42975224		GAexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.G388A
c.G253A
c.G706A
c.G610A		p.D130N
p.D85N
p.D236N
p.D204N		27.4-Wang2020 T
PPP2R5D     Naples_7031chr6:
42975173-42975173		CTexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.C337T
c.C202T
c.C655T
c.C559T		p.R113C
p.R68C
p.R219C
p.R187C		23.2-Wang2020 T
PPP2R5D     ACGC_M15084chr6:
42976160-42976160		CTexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.C655T
c.C520T
c.C973T
c.C877T		p.R219C
p.R174C
p.R325C
p.R293C		17.35-Wang2020 T
PPP2R5D     ACGC_GX0146.p1chr6:
42975234-42975234		TCexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.T398C
c.T263C
c.T716C
c.T620C		p.F133S
p.F88S
p.F239S
p.F207S		28.9-Wang2020 T
POGZ     ACGC_HN0067.p1chr1:
151378395-151378395		CTexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.G2831A
c.G2957A
c.G2930A
c.G3089A
c.G3116A		p.R944H
p.R986H
p.R977H
p.R1030H
p.R1039H		19.54.119E-5Wang2020 T
POGZ     TASC_211-5353-3chr1:
151395887-151395887		GAexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.C1379T
c.C1505T
c.C1478T
c.C1637T
c.C1664T		p.P460L
p.P502L
p.P493L
p.P546L
p.P555L		24.6-Wang2020 T
PPP2R5D     Leuven_230505chr6:
42978470-42978470		CTexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.C1232T
c.C1097T
c.C1550T
c.C1454T		p.P411L
p.P366L
p.P517L
p.P485L		27.5-Wang2020 T
POGZ     ACGC_M8734chr1:
151378395-151378395		CTexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.G2831A
c.G2957A
c.G2930A
c.G3089A
c.G3116A		p.R944H
p.R986H
p.R977H
p.R1030H
p.R1039H		19.54.119E-5Wang2020 T
RELN     ACGC_M26918chr7:
103180699-103180699		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6875A
c.G6875A		p.R2292H
p.R2292H		29.35.771E-5Wang2020 T
RELN     ACGC_HEN0049.p1chr7:
103243926-103243926		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G3158A
c.G3158A		p.G1053E
p.G1053E		26.6-Wang2020 T
RELN     APP_110052-100chr7:
103185636-103185636		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6458A
c.G6458A		p.G2153D
p.G2153D		28.09.061E-5Wang2020 T
RELN     SanDiego_R8F8Zchr7:
103185636-103185636		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6458A
c.G6458A		p.G2153D
p.G2153D		28.09.061E-5Wang2020 T
PPP2R5D     ACGC_SD0005.p1chr6:
42974956-42974956		CTexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.C227T
c.C92T
c.C545T
c.C449T		p.T76M
p.T31M
p.T182M
p.T150M		28.42.471E-5Wang2020 T
PPP2R5D     ACGC_SD0118.p1chr6:
42974366-42974366		CTexonicUnknownnonsynonymous SNVNM_006245c.C271Tp.R91C32.04.131E-5Wang2020 T
RELN     ACGC_GX0575.p1chr7:
103155884-103155884		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G7867A
c.G7867A		p.V2623M
p.V2623M		22.7-Wang2020 T
RELN     Iowa_172_3_a.2.1chr7:
103557528-103557528		CGexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G331C
c.G331C		p.G111R
p.G111R		18.03-Wang2020 T
RELN     Greenwood_Cms6476Bchr7:
103252216-103252216		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C2737T
c.C2737T		p.R913C
p.R913C		29.85.789E-5Wang2020 T
RELN     Greenwood_Cms23880chr7:
103252216-103252216		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C2737T
c.C2737T		p.R913C
p.R913C		29.85.789E-5Wang2020 T
RELN     APP_109776-100chr7:
103124256-103124256		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C10025T
c.C10025T		p.T3342M
p.T3342M		28.01.648E-5Wang2020 T
RELN     SanDiego_M2C4Jchr7:
103123375-103123375		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C10225T
c.C10225T		p.R3409C
p.R3409C		34.03.295E-5Wang2020 T
RELN     ACGC_HN0115.p1chr7:
103193948-103193948		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6032A
c.G6032A		p.R2011H
p.R2011H		20.52.476E-5Wang2020 T
RELN     ACGC_M17503chr7:
103193948-103193948		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6032A
c.G6032A		p.R2011H
p.R2011H		20.52.476E-5Wang2020 T
RELN     Greenwood_Cms2322bchr7:
103202267-103202267		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C5344T
c.C5344T		p.R1782C
p.R1782C		29.02.0E-4Wang2020 T
RELN     Greenwood_12053chr7:
103202267-103202267		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C5344T
c.C5344T		p.R1782C
p.R1782C		29.02.0E-4Wang2020 T
RELN     AGRE_AU0946302chr7:
103183217-103183217		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6632A
c.G6632A		p.R2211H
p.R2211H		29.26.59E-5Wang2020 T
RELN     Leuven2_60885244chr7:
103183217-103183217		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G6632A
c.G6632A		p.R2211H
p.R2211H		29.26.59E-5Wang2020 T
RELN     Gecz3_40429chr7:
103557528-103557528		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G331A
c.G331A		p.G111R
p.G111R		18.581.651E-5Wang2020 T
RELN     Gecz3_40428chr7:
103557528-103557528		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G331A
c.G331A		p.G111R
p.G111R		18.581.651E-5Wang2020 T
RELN     AGRE_04C24261chr7:
103155835-103155835		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G7916A
c.G7916A		p.R2639H
p.R2639H		34.01.653E-5Wang2020 T
RELN     ACGC_HEN0134.p1chr7:
103138318-103138318		GAexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C8899T
c.C8899T		p.R2967C
p.R2967C		22.91.65E-5Wang2020 T
RELN     ACGC_M17444chr7:
103237104-103237104		CTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.G3338A
c.G3338A		p.G1113E
p.G1113E		27.28.279E-6Wang2020 T
RELN     ACGC_GD0119.p1chr7:
103234887-103234887		GTexonicUnknownnonsynonymous SNVNM_005045
NM_173054		c.C3592A
c.C3592A		p.R1198S
p.R1198S		28.08.239E-6Wang2020 T
SCN2A     ACGC_M8805chr2:
166201311-166201311		CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2809T
c.C2809T
c.C2809T		p.R937C
p.R937C
p.R937C		29.0-Wang2020 T
SCN2A     SAGE_110.04chr2:
166201197-166201197		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2695A
c.G2695A
c.G2695A		p.G899S
p.G899S
p.G899S		35.0-Wang2020 T
SCN2A     ACGC_SD0352.p1chr2:
166229768-166229768		GTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G3883T
c.G3883T
c.G3883T		p.G1295C
p.G1295C
p.G1295C		32.0-Wang2020 T
SCN2A     ACGC_SX0088.p1chr2:
166226727-166226727		ATexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.A3767T
c.A3767T
c.A3767T		p.E1256V
p.E1256V
p.E1256V		27.9-Wang2020 T
SCN2A     TASC_210-18213-302chr2:
166198962-166198962		CAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2545A
c.C2545A
c.C2545A		p.L849I
p.L849I
p.L849I		23.3-Wang2020 T
SCN2A     ACGC_M20573chr2:
166237664-166237666		AACATexonicUnknownframeshift substitutionNM_001040143
NM_001040142
NM_021007		c.4509_4510T
c.4509_4510T
c.4509_4510T		N/A
N/A
N/A		--Wang2020 T
KAT6A     12108.p1chr8:
41906209-41906213		TTTTGTexonicDe novoframeshift deletionNM_001305878
NM_006766		c.283_286del
c.283_286del		p.Q95fs
p.Q95fs		--Wang2020 T
SCN2A     AGRE_03C21394chr2:
166179685-166179685		GTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G1691T
c.G1691T
c.G1691T		p.G564V
p.G564V
p.G564V		23.5-Wang2020 T
SCN2A     TASC_210-18213-303chr2:
166198962-166198962		CAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2545A
c.C2545A
c.C2545A		p.L849I
p.L849I
p.L849I		23.3-Wang2020 T
SCN2A     Leuven_303758chr2:
166201362-166201362		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2860A
c.G2860A
c.G2860A		p.A954T
p.A954T
p.A954T		28.88.236E-6Wang2020 T
SCN2A     Leuven_155630chr2:
166201362-166201362		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2860A
c.G2860A
c.G2860A		p.A954T
p.A954T
p.A954T		28.88.236E-6Wang2020 T
SCN2A     SAGE_187.04chr2:
166201379-166201379		CAexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Wang2020 T
SCN2A     ACGC_GD0098.p1chr2:
166198981-166198981		TCsplicingUnknownsplicing24.6-Wang2020 T
SCN2A     TASC_214-17091-1chr2:
166183395-166183395		CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C2050T
c.C2050T
c.C2050T		p.R684W
p.R684W
p.R684W		17.892.0E-4Wang2020 T
SCN2A     Melbourne2_ASD_1465chr2:
166246237-166246237		CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5921T
c.C5921T
c.C5921T		p.S1974L
p.S1974L
p.S1974L		19.3-Wang2020 T
SCN2A     Leuven2_80954241chr2:
166201362-166201362		GAexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G2860A
c.G2860A
c.G2860A		p.A954T
p.A954T
p.A954T		28.88.236E-6Wang2020 T
SCN2A     AGRE_AU024703chr2:
166246020-166246020		CTexonicUnknownnonsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.C5704T
c.C5704T
c.C5704T		p.R1902C
p.R1902C
p.R1902C		15.374.128E-5Wang2020 T
SETBP1     Leuven2_85684736chr18:
42533266-42533266		CTexonicUnknownnonsynonymous SNVNM_015559c.C3961Tp.R1321C18.292.508E-5Wang2020 T
SETBP1     SAGE_523.03chr18:
42281646-42281646		GAexonicUnknownnonsynonymous SNVNM_001130110
NM_015559		c.G335A
c.G335A		p.R112Q
p.R112Q		34.0-Wang2020 T
SETBP1     Leuven_246927chr18:
42533267-42533267		GTexonicUnknownnonsynonymous SNVNM_015559c.G3962Tp.R1321L26.21.673E-5Wang2020 T
SETBP1     SanDiego_R3L9Pchr18:
42533266-42533266		CTexonicUnknownnonsynonymous SNVNM_015559c.C3961Tp.R1321C18.292.508E-5Wang2020 T
SCN2A     ACGC_HEN468.p1chr2:
166179921-166179921		ATexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.A1927T
c.A1927T
c.A1927T		p.K643X
p.K643X
p.K643X		41.0-Wang2020 T
SCN2A     SAGE_557.03chr2:
166201379-166201379		CAexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.C2877A
c.C2877A
c.C2877A		p.C959X
p.C959X
p.C959X		42.0-Wang2020 T
SETBP1     ACGC_HN0113.p1chr18:
42530247-42530247		GGGTexonicUnknownframeshift insertionNM_015559c.942_943insGTp.L314fs--Wang2020 T
SCN2A     ACGC_SD0305.p1chr2:
166226663-166226663		CTexonicUnknownstopgainNM_001040143
NM_001040142
NM_021007		c.C3703T
c.C3703T
c.C3703T		p.R1235X
p.R1235X
p.R1235X		43.0-Wang2020 T
SETD2     ACGC_GX0390.p1chr3:
47103785-47103785		GAexonicUnknownnonsynonymous SNVNM_014159c.C6161Tp.P2054L19.196.589E-5Wang2020 T
SETD2     AGRE_03C15985chr3:
47088078-47088078		CTexonicUnknownnonsynonymous SNVNM_014159c.G6997Ap.G2333R25.2-Wang2020 T
SETD2     ACGC_HEN477.p1chr3:
47155365-47155365		CTsplicingUnknownsplicing23.1-Wang2020 T
SETD2     AGRE_03C16162chr3:
47098880-47098880		GAexonicUnknownnonsynonymous SNVNM_014159c.C6394Tp.R2132W17.548.238E-6Wang2020 T
SETD2     Greenwood_Cms15744chr3:
47164759-47164759		CTexonicUnknownnonsynonymous SNVNM_014159c.G1367Ap.R456Q23.7-Wang2020 T
CASZ1     AU2029303chr1:
10699877-10699877		AAAexonicDe novoframeshift insertionNM_001079843c.4402dupTp.F1468fs--Wang2020 T
SETBP1     Radboud_10-12452chr18:
42533267-42533267		GTexonicUnknownnonsynonymous SNVNM_015559c.G3962Tp.R1321L26.21.673E-5Wang2020 T
SETD2     ACGC_HEN0389.p1chr3:
47164927-47164927		CTexonicUnknownnonsynonymous SNVNM_014159c.G1199Ap.R400Q22.3-Wang2020 T
SETD2     ACGC_HEN455.p1chr3:
47164927-47164927		CTexonicUnknownnonsynonymous SNVNM_014159c.G1199Ap.R400Q22.3-Wang2020 T
SETD5     ACGC_M8509chr3:
9482197-9482197		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C625T
c.C331T		p.R209W
p.R111W		28.9-Wang2020 T
SETD5     TASC_217-14021-410chr3:
9477562-9477562		GTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G539T
c.G206T		p.R180L
p.R69L		28.4-Wang2020 T
SETD5     ACGC_4493chr3:
9490268-9490268		GAexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G2300A
c.G2006A		p.R767H
p.R669H		22.19.176E-6Wang2020 T
SETD5     ACGC_GD0027.p1chr3:
9488972-9488972		GAexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G1763A
c.G1469A		p.R588Q
p.R490Q		29.6-Wang2020 T
SETD5     AGRE_09C82352chr3:
9506330-9506330		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2698T
c.C2404T		p.R900C
p.R802C		28.52.484E-5Wang2020 T
DDX3X     1-0554-003chrX:
41202565-41202566		ATAexonicDe novoframeshift deletionNM_001193417
NM_001193416
NM_001356		c.593delT
c.641delT
c.641delT		p.I198fs
p.I214fs
p.I214fs		--Wang2020 T
SETD5     AGRE_09C82351chr3:
9506330-9506330		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2698T
c.C2404T		p.R900C
p.R802C		28.52.484E-5Wang2020 T
SETD5     ACGC_GX0113.p1chr3:
9477537-9477537		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C514T
c.C181T		p.R172W
p.R61W		19.83-Wang2020 T
SETD5     Leuven_315751chr3:
9490237-9490237		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2269T
c.C1975T		p.R757C
p.R659C		26.3-Wang2020 T
SETD5     ACGC_M13344chr3:
9512350-9512350		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2932T
c.C2638T		p.R978W
p.R880W		18.748.281E-5Wang2020 T
SETD5     ACGC_GX0230.p1chr3:
9512350-9512350		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2932T
c.C2638T		p.R978W
p.R880W		18.748.281E-5Wang2020 T
SETD5     ACGC_M17450chr3:
9484990-9484990		AGsplicingUnknownsplicing18.54-Wang2020 T
SETD5     ACGC_SD0234.p1chr3:
9512350-9512350		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2932T
c.C2638T		p.R978W
p.R880W		18.748.281E-5Wang2020 T
SETD5     Leuven2_82286659chr3:
9488800-9488800		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C1591T
c.C1297T		p.R531W
p.R433W		25.1-Wang2020 T
SETD5     ACGC_M15071chr3:
9515131-9515131		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C3407T
c.C3113T		p.S1136F
p.S1038F		27.8-Wang2020 T
SETD5     AGRE_05C51751chr3:
9512351-9512351		GAexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G2933A
c.G2639A		p.R978Q
p.R880Q		28.93.312E-5Wang2020 T
SETD5     AGRE_05C51750chr3:
9512351-9512351		GAexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G2933A
c.G2639A		p.R978Q
p.R880Q		28.93.312E-5Wang2020 T
SHANK2     Leuven_305385chr11:
70505962-70505962		CTexonicUnknownnonsynonymous SNVNM_133266c.G268Ap.G90R32.01.65E-5Wang2020 T
SHANK2     AGRE_AU1644303chr11:
70805647-70805647		CTexonicUnknownunknown27.34.604E-5Wang2020 T
SHANK2     AGRE_AU1181303chr11:
70348922-70348922		CTexonicUnknownnonsynonymous SNVNM_133266c.G412Ap.D138N22.58.332E-6Wang2020 T
SHANK2     AGRE_03C16187chr11:
70348919-70348919		CTexonicUnknownnonsynonymous SNVNM_133266c.G415Ap.D139N18.898.389E-6Wang2020 T
SHANK2     ACGC_HEN0059.p1chr11:
70332687-70332688		CTCexonicUnknownframeshift deletionNM_133266c.1946delAp.E649fs--Wang2020 T
SHANK2     ACGC_GX0546.p1chr11:
70332687-70332688		CTCexonicUnknownframeshift deletionNM_133266c.1946delAp.E649fs--Wang2020 T
SHANK2     Leuven2_82947565chr11:
70338480-70338480		CGexonicUnknownnonsynonymous SNVNM_133266c.G635Cp.R212P29.82.538E-5Wang2020 T
SHANK2     ACGC_HEN0078.p1chr11:
70332687-70332688		CTCexonicUnknownframeshift deletionNM_133266c.1946delAp.E649fs--Wang2020 T
SHANK2     ACGC_HEN0243.p1chr11:
70332333-70332333		GAexonicUnknownsynonymous SNVNM_133266c.C2301Tp.T767T-1.651E-5Wang2020 T
SHANK2     Leuven_393327chr11:
70666591-70666591		GAexonicUnknownunknown-3.0E-4Wang2020 T
SIN3A     SanDiego_00923-U9Z3Zchr15:
75676766-75676766		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G3034A
c.G3034A
c.G3034A		p.V1012M
p.V1012M
p.V1012M		27.3-Wang2020 T
SIN3A     SanDiego_00396-J8T5Nchr15:
75676766-75676766		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G3034A
c.G3034A
c.G3034A		p.V1012M
p.V1012M
p.V1012M		27.3-Wang2020 T
SHANK2     ACGC_M32301chr11:
70666569-70666569		CTexonicUnknownunknown15.31-Wang2020 T
SHANK2     AGRE_AU0906301chr11:
70505950-70505950		CTexonicUnknownnonsynonymous SNVNM_133266c.G280Ap.G94R26.28.253E-6Wang2020 T
SHANK2     ACGC_HEN0333.p1chr11:
70332852-70332852		GAexonicUnknownsynonymous SNVNM_133266c.C1782Tp.P594P-1.72E-5Wang2020 T
SHANK2     ACGC_M31992chr11:
70666569-70666569		CTexonicUnknownunknown15.31-Wang2020 T
SIN3A     SAGE_131.03chr15:
75694295-75694295		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G1424A
c.G1424A
c.G1424A		p.R475Q
p.R475Q
p.R475Q		29.3-Wang2020 T
SIN3A     ACGC_SD0154.p1chr15:
75694229-75694229		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G1490A
c.G1490A
c.G1490A		p.R497H
p.R497H
p.R497H		33.0-Wang2020 T
SLC6A1     Leuven_46361chr3:
11070944-11070944		AGexonicUnknownnonsynonymous SNVNM_003042c.A1229Gp.D410G28.3-Wang2020 T
SIN3A     AGRE_AU012305chr15:
75693151-75693151		GAexonicUnknownstopgainNM_001145357
NM_001145358
NM_015477		c.C1657T
c.C1657T
c.C1657T		p.R553X
p.R553X
p.R553X		40.0-Wang2020 T
SIN3A     ACGC_SD0336.p1chr15:
75687145-75687145		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G2153A
c.G2153A
c.G2153A		p.R718Q
p.R718Q
p.R718Q		36.0-Wang2020 T
SIN3A     ACGC_SD0335.p1chr15:
75687145-75687145		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G2153A
c.G2153A
c.G2153A		p.R718Q
p.R718Q
p.R718Q		36.0-Wang2020 T
SIN3A     AGRE_AU052103chr15:
75687044-75687044		CTexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.G2254A
c.G2254A
c.G2254A		p.E752K
p.E752K
p.E752K		37.0-Wang2020 T
SIN3A     ACGC_HN0309.p1chr15:
75682048-75682048		ATexonicUnknownnonsynonymous SNVNM_001145357
NM_001145358
NM_015477		c.T2966A
c.T2966A
c.T2966A		p.I989N
p.I989N
p.I989N		32.0-Wang2020 T
SMARCC2     ACGC_HEN0004.p1chr12:
56565666-56565666		CTexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067		c.G1889A
c.G1982A
c.G1982A		p.R630H
p.R661H
p.R661H		27.0-Wang2020 T
SLC6A1     ACGC_M23713chr3:
11075334-11075334		GAexonicUnknownnonsynonymous SNVNM_003042c.G1436Ap.R479Q25.36.685E-5Wang2020 T
SMARCC2     ACGC_HEN442.p1chr12:
56566489-56566489		CTsplicingUnknownsplicing19.74-Wang2020 T
SMARCC2     AGRE_AU1188303chr12:
56566407-56566407		GAexonicUnknownnonsynonymous SNVNM_003075
NM_001130420
NM_139067		c.C1732T
c.C1825T
c.C1825T		p.R578C
p.R609C
p.R609C		18.191.647E-5Wang2020 T
SLC6A1     ACGC_M30580chr3:
11070520-11070520		GTexonicUnknownnonsynonymous SNVNM_003042c.G1178Tp.G393V25.1-Wang2020 T
SLC6A1     ACGC_SD0314.p1chr3:
11067522-11067522		GAexonicUnknownnonsynonymous SNVNM_003042c.G913Ap.A305T24.3-Wang2020 T
SLC6A1     ACGC_GX0579.p1chr3:
11076248-11076248		CTexonicUnknownnonsynonymous SNVNM_003042c.C1559Tp.T520M23.32.478E-5Wang2020 T
SLC6A1     Leuven_413832chr3:
11076248-11076248		CTexonicUnknownnonsynonymous SNVNM_003042c.C1559Tp.T520M23.32.478E-5Wang2020 T
TCF7L2     Greenwood_Cms23003achr10:
114910819-114910819		CAexonicUnknownnonsynonymous SNVNM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531		c.C767A
c.C857A
c.C869A
c.C869A
c.C884A
c.C869A
c.C857A
c.C869A
c.C869A
c.C869A
c.C938A
c.C1010A
c.C938A		p.A256D
p.A286D
p.A290D
p.A290D
p.A295D
p.A290D
p.A286D
p.A290D
p.A290D
p.A290D
p.A313D
p.A337D
p.A313D		27.6-Wang2020 T
TCF7L2     ACGC_HEN494.p1chr10:
114903718-114903718		CTexonicUnknownnonsynonymous SNVNM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531		c.C551T
c.C653T
c.C653T
c.C653T
c.C653T
c.C653T
c.C653T
c.C653T
c.C653T
c.C653T
c.C722T
c.C794T
c.C722T		p.P184L
p.P218L
p.P218L
p.P218L
p.P218L
p.P218L
p.P218L
p.P218L
p.P218L
p.P218L
p.P241L
p.P265L
p.P241L		25.4-Wang2020 T
TCF7L2     Leuven2_60244430chr10:
114925406-114925406		CAexonicUnknownnonsynonymous SNVNM_001146285
NM_001198526
NM_001146274
NM_030756		c.C1415A
c.C1415A
c.C1484A
c.C1466A		p.P472H
p.P472H
p.P495H
p.P489H		18.160.0025Wang2020 T
TCF7L2     TASC_219-2316-0001chr10:
114910852-114910852		CTexonicUnknownnonsynonymous SNVNM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531		c.C800T
c.C890T
c.C902T
c.C902T
c.C917T
c.C902T
c.C890T
c.C902T
c.C902T
c.C902T
c.C971T
c.C1043T
c.C971T		p.S267F
p.S297F
p.S301F
p.S301F
p.S306F
p.S301F
p.S297F
p.S301F
p.S301F
p.S301F
p.S324F
p.S348F
p.S324F		24.0-Wang2020 T
TCF7L2     SanDiego_00963-V9V2Wchr10:
114925334-114925334		GTexonicUnknownnonsynonymous SNVNM_001198530
NM_001146286
NM_001146283
NM_001146284
NM_001146285
NM_001198526
NM_001198529
NM_001198531
NM_001146274
NM_030756		c.G1168T
c.G1270T
c.G1411T
c.G1309T
c.G1343T
c.G1343T
c.G1321T
c.G1339T
c.G1412T
c.G1394T		p.A390S
p.A424S
p.A471S
p.A437S
p.R448L
p.R448L
p.A441S
p.A447S
p.R471L
p.R465L		28.4-Wang2020 T
TBR1     TASC_217-14293-4140chr2:
162279941-162279941		CTexonicUnknownstopgainNM_006593c.C1252Tp.Q418X40.0-Wang2020 T
TCF7L2     ACGC_HEN0392.p1chr10:
114903688-114903688		CTexonicUnknownnonsynonymous SNVNM_001198530
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001146283
NM_001198531		c.C521T
c.C623T
c.C623T
c.C623T
c.C623T
c.C623T
c.C623T
c.C623T
c.C623T
c.C623T
c.C692T
c.C764T
c.C692T		p.P174L
p.P208L
p.P208L
p.P208L
p.P208L
p.P208L
p.P208L
p.P208L
p.P208L
p.P208L
p.P231L
p.P255L
p.P231L		22.8-Wang2020 T
TCF7L2     Greenwood_Cms23872chr10:
114799823-114799823		GAexonicUnknownnonsynonymous SNVNM_001146283
NM_001146284
NM_001146285
NM_001146286
NM_001198525
NM_001198526
NM_001198527
NM_001198528
NM_001198529
NM_030756
NM_001146274
NM_001198531		c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G421A
c.G490A
c.G490A		p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G141R
p.G164R
p.G164R		33.0-Wang2020 T
TNRC6B     AGRE_AU043806chr22:
40669454-40669454		GTexonicUnknownnonsynonymous SNVNM_015088
NM_001162501
NM_001024843		c.G2832T
c.G2991T
c.G750T		p.W944C
p.W997C
p.W250C		26.25.546E-5Wang2020 T
TNRC6B     AGRE_AU043805chr22:
40669454-40669454		GTexonicUnknownnonsynonymous SNVNM_015088
NM_001162501
NM_001024843		c.G2832T
c.G2991T
c.G750T		p.W944C
p.W997C
p.W250C		26.25.546E-5Wang2020 T
TNRC6B     TASC_217-14007-160chr22:
40662815-40662815		GAexonicUnknownnonsynonymous SNVNM_001162501
NM_015088		c.G2581A
c.G2581A		p.G861R
p.G861R		31.03.339E-5Wang2020 T
TNRC6B     Leuven2_83371591chr22:
40681652-40681652		GTexonicUnknownnonsynonymous SNVNM_015088
NM_001162501
NM_001024843		c.G3256T
c.G3586T
c.G1174T		p.G1086C
p.G1196C
p.G392C		19.568.29E-6Wang2020 T
TCF7L2     Leuven_225991chr10:
114925475-114925475		CTexonicUnknownnonsynonymous SNVNM_001146285
NM_001198526
NM_001146274
NM_030756		c.C1484T
c.C1484T
c.C1553T
c.C1535T		p.S495L
p.S495L
p.S518L
p.S512L		20.32.499E-5Wang2020 T
TCF7L2     SAGE_BK877-01chr10:
114925406-114925406		CAexonicUnknownnonsynonymous SNVNM_001146285
NM_001198526
NM_001146274
NM_030756		c.C1415A
c.C1415A
c.C1484A
c.C1466A		p.P472H
p.P472H
p.P495H
p.P489H		18.160.0025Wang2020 T
TNRC6B