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Results for "Yuan2023"

Variant Events: 221

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
LUZP1     SMHC01282s000chr1:
23419960-23419960		CAexonicDe novononsynonymous SNVNM_001142546
NM_033631		c.G795T
c.G795T		p.K265N
p.K265N		15.578.239E-6Yuan2023 E
YRDC     SMHC01353s000chr1:
38273671-38273671		GAexonicDe novononsynonymous SNVNM_024640c.C182Tp.P61L12.88-Yuan2023 E
CATSPER4     SMHC01028s000chr1:
26527437-26527437		CAexonicDe novononsynonymous SNVNM_198137c.C1104Ap.N368K17.73-Yuan2023 E
HMCN1     SMHC01081s000chr1:
185953329-185953329		GAexonicDe novononsynonymous SNVNM_031935c.G2819Ap.R940H32.02.475E-5Yuan2023 E
FCRL4     SMHC90004sfd0chr1:
157557119-157557119		GCexonicDe novononsynonymous SNVNM_031282c.C794Gp.T265R14.97-Yuan2023 E
FLNB     SMHC01081s000chr3:
58149052-58149052		CAexonicDe novononsynonymous SNVNM_001164319
NM_001164318
NM_001457
NM_001164317		c.C7121A
c.C7160A
c.C7193A
c.C7286A		p.T2374N
p.T2387N
p.T2398N
p.T2429N		15.92-Yuan2023 E
FLVCR1     SMHC01432s000chr1:
213056746-213056746		CTexonicDe novononsynonymous SNVNM_014053c.C1058Tp.T353M24.02.129E-5Yuan2023 E
LRIG2     SMHC01003s000chr1:
113666508-113666508		CTexonicDe novononsynonymous SNVNM_014813
NM_001312686		c.C2983T
c.C2674T		p.R995W
p.R892W		9.8924.282E-5Yuan2023 E
LRRC8D     SMHC01311s000chr1:
90400236-90400236		GAexonicDe novononsynonymous SNVNM_001134479
NM_018103		c.G1609A
c.G1609A		p.D537N
p.D537N		18.518.262E-6Yuan2023 E
EFNA1     SMHC01351s000chr1:
155106029-155106029		GTexonicDe novononsynonymous SNVNM_004428c.G439Tp.V147F18.29-Yuan2023 E
CGN     SMHC01208s000chr1:
151503215-151503215		AGexonicDe novononsynonymous SNVNM_020770c.A2564Gp.N855S19.02-Yuan2023 E
SDK1     SMHC01042s000chr7:
4152946-4152946		GTexonicDe novononsynonymous SNVNM_152744c.G3460Tp.V1154F24.08.257E-6Yuan2023 E
WI2-2373I1.2    SMHC01057s000chr7:
330737-330737		TCexonicDe novononsynonymous SNVNM_001195127c.T226Cp.W76R--Yuan2023 E
CUX1     SMHC01432s000chr7:
101892059-101892059		GTexonicDe novononsynonymous SNVNM_001202543
NM_181552		c.G4288T
c.G4255T		p.D1430Y
p.D1419Y		12.02-Yuan2023 E
ZNF138     SMHC01197s000chr7:
64275368-64275368		CTexonicDe novononsynonymous SNVNM_001160183
NM_001271637
NM_001271639
NM_001271640
NM_006524
NM_001271638		c.C76T
c.C76T
c.C76T
c.C76T
c.C76T
c.C58T		p.R26W
p.R26W
p.R26W
p.R26W
p.R26W
p.R20W		5.6354.124E-5Yuan2023 E
MEF2C     SMHC01432s000chr5:
88119562-88119562		CTexonicDe novononsynonymous SNVNM_001193348
NM_001193349
NM_001308002
NM_001193350
NM_002397
NM_001131005
NM_001193347		c.G44A
c.G44A
c.G44A
c.G44A
c.G44A
c.G44A
c.G44A		p.R15H
p.R15H
p.R15H
p.R15H
p.R15H
p.R15H
p.R15H		23.5-Yuan2023 E
PLXND1     SMHC01028s000chr3:
129325266-129325266		GTexonicDe novononsynonymous SNVNM_015103c.C217Ap.L73M15.19-Yuan2023 E
MYO6     SMHC00912s000chr6:
76596584-76596584		GAexonicDe novononsynonymous SNVNM_001300899
NM_004999		c.G2531A
c.G2531A		p.G844D
p.G844D		11.03-Yuan2023 E
VPS52     SMHC01348s000chr6:
33235710-33235710		CTexonicDe novononsynonymous SNVNM_001289174
NM_001289175
NM_001289176
NM_022553		c.G664A
c.G490A
c.G490A
c.G865A		p.V222M
p.V164M
p.V164M
p.V289M		26.3-Yuan2023 E
INPP5A     SMHC00852d000chr10:
134503896-134503896		GAexonicDe novononsynonymous SNVNM_005539c.G307Ap.A103T21.4-Yuan2023 E
PLCE1     SMHC90004s000chr10:
95931000-95931000		GTexonicDe novononsynonymous SNVNM_001165979
NM_001288989
NM_016341		c.G632T
c.G1556T
c.G1556T		p.S211I
p.S519I
p.S519I		22.6-Yuan2023 E
LRP6     SMHC90004s000chr12:
12334328-12334328		CTexonicDe novononsynonymous SNVNM_002336c.G1022Ap.R341H17.041.651E-5Yuan2023 E
BLID     SMHC01296s000chr11:
121986534-121986534		ACexonicDe novononsynonymous SNVNM_001001786c.T97Gp.S33A11.318.248E-6Yuan2023 E
TACC1     SMHC90003s000chr8:
38704237-38704237		AGexonicDe novononsynonymous SNVNM_001122824
NM_001146216
NM_006283		c.A1019G
c.A1664G
c.A2249G		p.Q340R
p.Q555R
p.Q750R		17.965.766E-5Yuan2023 E
CFTR     SMHC01304d000chr7:
117180323-117180323		CTexonicDe novononsynonymous SNVNM_000492c.C1039Tp.R347C22.98.241E-6Yuan2023 E
SAPCD2     SMHC01340s000chr9:
139964509-139964509		AGexonicDe novononsynonymous SNVNM_178448c.T404Cp.L135P13.42-Yuan2023 E
KCNV1     SMHC01288s000chr8:
110980379-110980379		GAexonicDe novostopgainNM_014379c.C1441Tp.R481X40.0-Yuan2023 E
COG3     SMHC01191s000chr13:
46053162-46053162		TCexonicDe novononsynonymous SNVNM_031431c.T344Cp.L115P21.0-Yuan2023 E
ANKLE2     SMHC01208s000chr12:
133306665-133306665		GGTexonicDe novoframeshift insertionNM_015114c.2082dupAp.H695fs--Yuan2023 E
GOLGA6L6     SMHC01003s000chr15:
20739676-20739676		GAexonicDe novounknown22.03.0E-4Yuan2023 E
RALGAPA1     SMHC01239s000chr14:
36128342-36128343		ACAsplicingDe novosplicing--Yuan2023 E
TFCP2     SMHC01205s000chr12:
51492647-51492647		AATexonicDe novoframeshift insertionNM_001173453
NM_001173452
NM_005653		c.1177dupA
c.1330dupA
c.1330dupA		p.I393fs
p.I444fs
p.I444fs		--Yuan2023 E
ITPR2     SMHC01369d000chr12:
26589281-26589281		TCsplicingDe novosplicing11.53-Yuan2023 E
MAP1LC3B2     SMHC01299s000chr12:
117013887-117013887		TCexonicDe novononsynonymous SNVNM_001085481c.T140Cp.L47P14.27-Yuan2023 E
SCN8A     SMHC01002s000chr12:
52183087-52183087		AGexonicDe novononsynonymous SNVNM_001177984
NM_014191		c.A4181G
c.A4304G		p.E1394G
p.E1435G		24.7-Yuan2023 E
SCRT2     SMHC01090s000chr20:
644800-644809		CCCCCGCGCGCexonicDe novononframeshift deletionNM_033129c.430_438delp.144_146del-9.0E-4Yuan2023 E
YIPF2     SMHC01306d000chr19:
11034349-11034349		AGexonicDe novononsynonymous SNVNM_024029c.T656Cp.L219P21.7-Yuan2023 E
MGAT3     SMHC01027d000chr22:
39884829-39884829		CTexonicDe novononsynonymous SNVNM_001098270
NM_002409		c.C1477T
c.C1477T		p.R493W
p.R493W		20.4-Yuan2023 E
CSNK1E     SMHC01044s000chr22:
38699143-38699143		CTexonicDe novononsynonymous SNVNM_001894
NM_152221
NM_001289912		c.G187A
c.G187A
c.G187A		p.V63M
p.V63M
p.V63M		18.68-Yuan2023 E
GLYR1     SMHC01320s000chr16:
4867613-4867613		GAexonicDe novononsynonymous SNVNM_001308096
NM_032569		c.C892T
c.C892T		p.R298C
p.R298C		20.3-Yuan2023 E
TLN2     SMHC01299s000chr15:
63000827-63000827		CGexonicDe novononsynonymous SNVNM_015059c.C2299Gp.L767V13.36-Yuan2023 E
RETREG3     SMHC01296s000chr17:
40744157-40744157		CTexonicDe novononsynonymous SNVNM_178126c.G263Ap.R88H19.914.962E-5Yuan2023 E
TERF2     SMHC01065s000chr16:
69395351-69395351		TCexonicDe novononsynonymous SNVNM_005652c.A1382Gp.E461G9.719-Yuan2023 E
CSMD2     SMHC02129s000chr1:
34037186-34037186		GAexonicDe novononsynonymous SNVNM_001281956
NM_052896		c.C7903T
c.C7909T		p.R2635C
p.R2637C		22.5-Yuan2023 E
AHDC1     SMHC01933s000chr1:
27876988-27876988		GAexonicDe novononsynonymous SNVNM_001029882c.C1639Tp.R547C15.44-Yuan2023 E
ZNF691     SMHC00938s000chr1:
43317192-43317192		GAexonicDe novononsynonymous SNVNM_015911
NM_001242739		c.G563A
c.G656A		p.R188Q
p.R219Q		24.68.293E-6Yuan2023 E
MFSD2A     SMHC00815s000chr1:
40432757-40432757		GCsplicingDe novosplicing19.85-Yuan2023 E
MECP2     SMHC01316d000chrX:
153296399-153296399		GAexonicDe novostopgainNM_001110792
NM_004992
NM_001316337		c.C916T
c.C880T
c.C601T		p.R306X
p.R294X
p.R201X		32.0-Yuan2023 E
USP26     SMHC01226d000chrX:
132159923-132159923		TAexonicDe novononsynonymous SNVNM_031907c.A2326Tp.T776S13.4-Yuan2023 E
SLC9A1     SMHC00814s000chr1:
27426920-27426920		CTexonicDe novononsynonymous SNVNM_003047c.G2326Ap.D776N18.928.545E-6Yuan2023 E
CASZ1     SMHC01577s000chr1:
10720455-10720455		GAexonicDe novononsynonymous SNVNM_001079843
NM_017766		c.C644T
c.C644T		p.P215L
p.P215L		18.298.305E-6Yuan2023 E
EPHX1     SMHC01550s000chr1:
226016564-226016564		AGexonicDe novononsynonymous SNVNM_000120
NM_001136018
NM_001291163		c.A134G
c.A134G
c.A134G		p.D45G
p.D45G
p.D45G		17.93-Yuan2023 E
PROX1     SMHC01816s000chr1:
214170357-214170357		AGexonicDe novononsynonymous SNVNM_001270616
NM_002763		c.A479G
c.A479G		p.E160G
p.E160G		17.45-Yuan2023 E
RYR2     SMHC01638s000chr1:
237433903-237433903		CAexonicDe novononsynonymous SNVNM_001035c.C155Ap.T52N18.0-Yuan2023 E
DISC1     SMHC01862d000chr1:
232144797-232144797		TGsplicing;exonicDe novononsynonymous SNVNM_001164538c.T2309Gp.V770G12.41-Yuan2023 E
USP24     SMHC01873s000chr1:
55600043-55600043		ATexonicDe novononsynonymous SNVNM_015306c.T3245Ap.V1082E18.71-Yuan2023 E
LRRC41     SMHC01549s000chr1:
46747039-46747039		ACexonicDe novononsynonymous SNVNM_006369c.T1514Gp.F505C17.95-Yuan2023 E
NFASC     SMHC01660s000chr1:
204937414-204937416		TCCTexonicDe novoframeshift deletionNM_001160331
NM_001160333
NM_001005388
NM_001005389
NM_001160332
NM_015090		c.778_779del
c.727_728del
c.745_746del
c.745_746del
c.778_779del
c.778_779del		p.P260fs
p.P243fs
p.P249fs
p.P249fs
p.P260fs
p.P260fs		--Yuan2023 E
ASTN1     SMHC00859s000chr1:
177133635-177133636		AGAexonicDe novoframeshift deletionNM_001286164
NM_004319
NM_207108		c.177delC
c.177delC
c.177delC		p.P59fs
p.P59fs
p.P59fs		--Yuan2023 E
USP34     SMHC01644s000chr2:
61454300-61454300		TAexonicDe novononsynonymous SNVNM_014709c.A7497Tp.E2499D20.2-Yuan2023 E
TTC7A     SMHC00845s000chr2:
47256441-47256441		CAexonicDe novononsynonymous SNVNM_001288955
NM_001288951
NM_020458
NM_001288953		c.C658A
c.C1720A
c.C1720A
c.C1618A		p.L220M
p.L574M
p.L574M
p.L540M		16.56-Yuan2023 E
SMYD5     SMHC00844d000chr2:
73453016-73453016		AGexonicDe novononsynonymous SNVNM_006062c.A1199Gp.E400G14.19-Yuan2023 E
WDPCP     SMHC02028s000chr2:
63664626-63664626		GAexonicDe novostopgainNM_001042692
NM_015910		c.C85T
c.C562T		p.Q29X
p.Q188X		23.7-Yuan2023 E
TOGARAM2     SMHC02129s000chr2:
29240811-29240811		GAexonicDe novononsynonymous SNVNM_199280c.G1349Ap.R450H12.433.11E-5Yuan2023 E
NRBP1     SMHC02016s000chr2:
27658602-27658602		TGintronicDe novo14.3-Yuan2023 E
ABCG8     SMHC01703s000chr2:
44102301-44102301		CTexonicDe novononsynonymous SNVNM_022437c.C1505Tp.P502L19.231.649E-5Yuan2023 E
SPAST     SMHC01807s000chr2:
32340883-32340883		TCexonicDe novononsynonymous SNVNM_199436
NM_014946		c.T887C
c.T983C		p.I296T
p.I328T		21.0-Yuan2023 E
SCN1A     SMHC00820s000chr2:
166897974-166897974		CTexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.G2182A
c.G2098A
c.G2149A
c.G2182A		p.E728K
p.E700K
p.E717K
p.E728K		33.0-Yuan2023 E
SCN2A     SMHC00929s000chr2:
166201064-166201064		GAsplicingDe novosplicing23.5-Yuan2023 E
TLK1     SMHC00860s000chr2:
171913006-171913006		TCexonicDe novononsynonymous SNVNM_001136555
NM_001136554
NM_012290		c.A236G
c.A380G
c.A524G		p.H79R
p.H127R
p.H175R		14.41-Yuan2023 E
XIRP2     SMHC01663d000chr2:
168115814-168115817		GAACGexonicDe novononframeshift deletionNM_001199145
NM_001079810
NM_001199143		c.2093_2095del
c.2759_2761del
c.2858_2860del		p.698_699del
p.920_921del
p.953_954del		--Yuan2023 E
CNNM3     SMHC01856s000chr2:
97482646-97482646		TCexonicDe novononsynonymous SNVNM_017623
NM_199078		c.T632C
c.T632C		p.V211A
p.V211A		19.96-Yuan2023 E
MIR4436A     SMHC00842s000chr2:
90108904-90108904		CAintergenicDe novo--Yuan2023 E
SCN2A     SMHC01560s000chr2:
166170419-166170419		GAexonicDe novononsynonymous SNVNM_001040143
NM_001040142
NM_021007		c.G1184A
c.G1184A
c.G1184A		p.R395H
p.R395H
p.R395H		33.0-Yuan2023 E
RBMS1     SMHC01663d000chr2:
161132210-161132210		GAexonicDe novostopgainNM_002897
NM_016836		c.C1150T
c.C1159T		p.Q384X
p.Q387X		37.0-Yuan2023 E
FBXL2     SMHC00860sfd0chr3:
33415081-33415081		GAexonicDe novononsynonymous SNVNM_012157c.G467Ap.R156Q28.0-Yuan2023 E
CHL1     SMHC01873s000chr3:
433456-433456		GTexonicDe novononsynonymous SNVNM_001253388
NM_001253387
NM_006614		c.G2890T
c.G2842T
c.G2890T		p.G964C
p.G948C
p.G964C		25.4-Yuan2023 E
CTNNB1     SMHC00822d000chr3:
41275712-41275712		TGexonicDe novononsynonymous SNVNM_001098209
NM_001098210
NM_001904		c.T1607G
c.T1607G
c.T1607G		p.L536R
p.L536R
p.L536R		25.8-Yuan2023 E
ARPP21     SMHC00858s000chr3:
35758849-35758849		GAexonicDe novononsynonymous SNVNM_001267619
NM_016300		c.G893A
c.G995A		p.R298Q
p.R332Q		26.03.307E-5Yuan2023 E
WDFY1     SMHC01879s000chr2:
224760264-224760264		TCexonicDe novononsynonymous SNVNM_020830c.A682Gp.I228V23.7-Yuan2023 E
CCDC141     SMHC00839s000chr2:
179912025-179912028		AAAGAexonicDe novononframeshift deletionNM_001316745
NM_173648		c.208_210del
c.208_210del		p.70_70del
p.70_70del		--Yuan2023 E
B3GNT7     SMHC01654s000chr2:
232263256-232263256		CTexonicDe novononsynonymous SNVNM_145236c.C826Tp.R276C26.3-Yuan2023 E
C2orf72     SMHC01547s000chr2:
231902648-231902648		GAexonicDe novononsynonymous SNVNM_001144994c.G368Ap.R123H19.88-Yuan2023 E
MFN1     SMHC01557sfd0chr3:
179082949-179082949		CTexonicDe novononsynonymous SNVNM_033540c.C689Tp.P230L22.2-Yuan2023 E
TMCC1     SMHC01890s000chr3:
129547043-129547043		CTexonicDe novononsynonymous SNVNM_001017395c.G179Ap.R60H28.4-Yuan2023 E
LRCH3     SMHC01861s000chr3:
197556532-197556532		GGTexonicDe novoframeshift insertionNM_032773c.876dupTp.G292fs--Yuan2023 E
VPS8     SMHC01798s000chr3:
184571703-184571703		GAexonicDe novononsynonymous SNVNM_001009921
NM_015303		c.G880A
c.G874A		p.E294K
p.E292K		35.0-Yuan2023 E
GLYCTK     SMHC01722s000chr3:
52326835-52326835		GAexonicDe novononsynonymous SNVNM_145262c.G1265Ap.R422Q36.08.343E-6Yuan2023 E
BSN     SMHC00891s000chr3:
49692855-49692855		CTexonicDe novononsynonymous SNVNM_003458c.C5866Tp.R1956W9.7643.681E-5Yuan2023 E
ROBO1     SMHC02031s000chr3:
78735028-78735028		GAexonicDe novostopgainNM_001145845
NM_133631
NM_002941		c.C1102T
c.C1102T
c.C1210T		p.R368X
p.R368X
p.R404X		37.0-Yuan2023 E
CACNA2D3     SMHC02048s000chr3:
54786653-54786653		CTexonicDe novostopgainNM_018398c.C1195Tp.R399X37.01.795E-5Yuan2023 E
KIAA1109     SMHC01980s000chr4:
123226049-123226049		GAexonicDe novononsynonymous SNVNM_015312c.G9583Ap.A3195T12.88-Yuan2023 E
METTL14     SMHC01971sfs0chr4:
119631333-119631333		GAexonicDe novononsynonymous SNVNM_020961c.G1247Ap.G416E22.3-Yuan2023 E
IRF2     SMHC01698s000chr4:
185339341-185339342		CTCexonicDe novoframeshift deletionNM_002199c.390delAp.E130fs--Yuan2023 E
KLHL2     SMHC01643s000chr4:
166220707-166220707		TGexonicDe novononsynonymous SNVNM_001161522
NM_001161521
NM_007246		c.T556G
c.T832G
c.T820G		p.Y186D
p.Y278D
p.Y274D		28.0-Yuan2023 E
SLC4A4     SMHC00834s000chr4:
72400094-72400094		CTexonicDe novononsynonymous SNVNM_003759
NM_001098484
NM_001134742		c.C2299T
c.C2431T
c.C2431T		p.H767Y
p.H811Y
p.H811Y		17.01-Yuan2023 E
CTBP1     SMHC01929s000chr4:
1231999-1231999		GAexonicDe novononsynonymous SNVNM_001328
NM_001012614		c.C167T
c.C134T		p.A56V
p.A45V		17.11-Yuan2023 E
ANK2     SMHC00856s000chr4:
114264171-114264175		AGGTGAexonicDe novononframeshift deletionNM_001148
NM_020977
NM_001127493		c.4123_4125del
c.4123_4125del
c.4096_4098del		p.1375_1375del
p.1375_1375del
p.1366_1366del		--Yuan2023 E
SHROOM3     SMHC01963sfd0chr4:
77476765-77476765		GAexonicDe novononsynonymous SNVNM_020859c.G172Ap.E58K17.726.598E-5Yuan2023 E
DTWD2     SMHC00831dfs0chr5:
118264401-118264401		CGexonicDe novononsynonymous SNVNM_001308081
NM_173666		c.G230C
c.G428C		p.C77S
p.C143S		21.1-Yuan2023 E
NR2F1     SMHC01763d000chr5:
92920748-92920771		AGCTGGCGAGATCCGCAGGACGACAexonicDe novoframeshift deletionNM_005654c.20_42delp.S7fs--Yuan2023 E
NSD1     SMHC02016s000chr5:
176631147-176631147		TCexonicDe novononsynonymous SNVNM_022455
NM_172349		c.T1090C
c.T283C		p.Y364H
p.Y95H		28.0-Yuan2023 E
TIMD4     SMHC01820d000chr5:
156376694-156376694		GTexonicDe novononsynonymous SNVNM_001146726
NM_138379		c.C728A
c.C728A		p.T243N
p.T243N		10.27-Yuan2023 E
MARCH6     SMHC00819sfd1chr5:
10402532-10402532		CTexonicDe novononsynonymous SNVNM_001270661
NM_001270660
NM_005885		c.C775T
c.C946T
c.C1090T		p.R259C
p.R316C
p.R364C		27.4-Yuan2023 E
PLEKHG4B     SMHC01654s000chr5:
144985-144985		CTexonicDe novononsynonymous SNVNM_052909c.C787Tp.R263C13.752.515E-5Yuan2023 E
HCN1     SMHC00817s000chr5:
45267283-45267283		AGexonicDe novononsynonymous SNVNM_021072c.T1691Cp.L564P19.35-Yuan2023 E
ADAMTS12     SMHC01971s000chr5:
33649683-33649683		TGexonicDe novononsynonymous SNVNM_030955c.A1310Cp.E437A19.47-Yuan2023 E
MDN1     SMHC01580d000chr6:
90437608-90437608		GAexonicDe novononsynonymous SNVNM_014611c.C5416Tp.R1806C13.736.598E-5Yuan2023 E
GJB7     SMHC02030s000chr6:
87994221-87994221		CTexonicDe novononsynonymous SNVNM_198568c.G410Ap.G137D19.18-Yuan2023 E
ADGB     SMHC01673s000chr6:
147049720-147049720		GAexonicDe novononsynonymous SNVNM_024694c.G2363Ap.R788Q16.12-Yuan2023 E
REV3L     SMHC01708s000chr6:
111628749-111628749		GAexonicDe novostopgainNM_002912
NM_001286432
NM_001286431		c.C9067T
c.C8833T
c.C8833T		p.R3023X
p.R2945X
p.R2945X		54.0-Yuan2023 E
PXT1     SMHC01542s000chr6:
36393709-36393710		CTCexonicDe novoframeshift deletionNM_152990c.150delAp.P50fs--Yuan2023 E
SYNGAP1     SMHC01629s000chr6:
33399974-33399975		CACexonicDe novoframeshift deletionNM_006772c.333delAp.P111fs--Yuan2023 E
COL9A1     SMHC01653s000chr6:
70942441-70942441		CTexonicDe novononsynonymous SNVNM_078485
NM_001851		c.G1619A
c.G2348A		p.R540H
p.R783H		22.33.547E-5Yuan2023 E
TDRD6     SMHC02027s000chr6:
46660526-46660526		CGexonicDe novononsynonymous SNVNM_001010870
NM_001168359		c.C4661G
c.C4661G		p.A1554G
p.A1554G		17.1-Yuan2023 E
BLVRA     SMHC01543s000chr7:
43827621-43827621		CTexonicDe novononsynonymous SNVNM_000712
NM_001253823		c.C131T
c.C131T		p.S44L
p.S44L		20.8-Yuan2023 E
CDK13     SMHC01750s000chr7:
40102426-40102426		CTexonicDe novononsynonymous SNVNM_003718
NM_031267		c.C2602T
c.C2602T		p.R868W
p.R868W		33.0-Yuan2023 E
GTF2I     SMHC01933s000chr7:
74103487-74103487		CTexonicDe novononsynonymous SNVNM_001163636
NM_001280800
NM_001518
NM_032999
NM_033000
NM_033001		c.C25T
c.C25T
c.C25T
c.C25T
c.C25T
c.C25T		p.L9F
p.L9F
p.L9F
p.L9F
p.L9F
p.L9F		17.43-Yuan2023 E
PSPH     SMHC01824s000chr7:
56082715-56082715		CTsplicingDe novosplicing21.9-Yuan2023 E
MAP3K4     SMHC01773s000chr6:
161519314-161519314		CTexonicDe novononsynonymous SNVNM_001301072
NM_005922
NM_001291958		c.C3517T
c.C3529T
c.C1888T		p.R1173W
p.R1177W
p.R630W		17.578.371E-6Yuan2023 E
IGF2R     SMHC01998s000chr6:
160484480-160484480		GAexonicDe novononsynonymous SNVNM_000876c.G3704Ap.G1235D20.78.237E-5Yuan2023 E
SDK1     SMHC01973s000chr7:
4008997-4008997		CTexonicDe novononsynonymous SNVNM_152744c.C1655Tp.T552I17.68-Yuan2023 E
INTS1     SMHC00817s000chr7:
1511206-1511206		CAsplicingDe novosplicing12.438.393E-6Yuan2023 E
LAMB1     SMHC00847s000chr7:
107566761-107566761		GAexonicDe novononsynonymous SNVNM_002291c.C4931Tp.A1644V24.4-Yuan2023 E
CDHR3     SMHC01992s000chr7:
105653442-105653442		TGexonicDe novononsynonymous SNVNM_001301161
NM_152750		c.T925G
c.T1189G		p.F309V
p.F397V		17.76-Yuan2023 E
CCDC25     SMHC02010s000chr8:
27614246-27614246		CTexonicDe novononsynonymous SNVNM_001304529
NM_018246		c.G158A
c.G158A		p.R53Q
p.R53Q		31.0-Yuan2023 E
GCC1     SMHC00894s000chr7:
127224423-127224423		GAexonicDe novostopgainNM_024523c.C814Tp.R272X40.08.24E-6Yuan2023 E
MEPCE     SMHC01562s000chr7:
100031137-100031137		CGexonicDe novononsynonymous SNVNM_019606
NM_001194990
NM_001194991
NM_001194992		c.C2030G
c.C623G
c.C623G
c.C623G		p.P677R
p.P208R
p.P208R
p.P208R		20.4-Yuan2023 E
TAF6     SMHC00811s000chr7:
99711695-99711695		GGCGGTexonicDe novoframeshift insertionNM_001190415
NM_005641
NM_139315		c.248_249insACCG
c.137_138insACCG
c.137_138insACCG		p.R83fs
p.R46fs
p.R46fs		--Yuan2023 E
FBXL13     SMHC01971s000chr7:
102518012-102518012		GAexonicDe novostopgainNM_001111038
NM_001287150
NM_145032		c.C1537T
c.C1537T
c.C1537T		p.R513X
p.R513X
p.R513X		39.01.0E-4Yuan2023 E
CUX1     SMHC01556s000chr7:
101870908-101870909		TATexonicDe novoframeshift deletionNM_001202543
NM_181552		c.3426delA
c.3393delA		p.I1142fs
p.I1131fs		--Yuan2023 E
WDR97     SMHC01545s000chr8:
145170749-145170749		CTexonicDe novononsynonymous SNVNM_001316309c.C4583Tp.P1528L15.68-Yuan2023 E
SCRIB     SMHC00818s000chr8:
144887563-144887563		CTexonicDe novononsynonymous SNVNM_015356
NM_182706		c.G2389A
c.G2389A		p.V797M
p.V797M		22.46.847E-5Yuan2023 E
KLF9     SMHC02027s000chr9:
73002837-73002838		TGTexonicDe novoframeshift deletionNM_001206c.589delCp.H197fs--Yuan2023 E
SMC5     SMHC01963s000chr9:
72933710-72933710		GTexonicDe novostopgainNM_015110c.G1981Tp.E661X28.7-Yuan2023 E
DPY19L4     SMHC01561s000chr8:
95777432-95777432		TCexonicDe novononsynonymous SNVNM_181787c.T892Cp.Y298H16.65-Yuan2023 E
WRN     SMHC01910s000chr8:
30969308-30969308		ACexonicDe novononsynonymous SNVNM_000553c.A2266Cp.K756Q12.52-Yuan2023 E
ADGRB1     SMHC01758s000chr8:
143599521-143599521		CTexonicDe novononsynonymous SNVNM_001702c.C2840Tp.P947L19.7-Yuan2023 E
ZHX2     SMHC00838s000chr8:
123964430-123964430		CGexonicDe novononsynonymous SNVNM_014943c.C680Gp.S227W14.5-Yuan2023 E
SIRT1     SMHC00844d000chr10:
69644622-69644622		CTexonicDe novononsynonymous SNVNM_012238c.C143Tp.P48L13.18-Yuan2023 E
PARD3     SMHC02047s000chr10:
34673177-34673177		ATexonicDe novononsynonymous SNVNM_001184790
NM_001184791
NM_001184785
NM_001184786
NM_001184787
NM_001184788
NM_001184789
NM_001184792
NM_001184793
NM_001184794
NM_019619		c.T764A
c.T764A
c.T896A
c.T896A
c.T896A
c.T896A
c.T896A
c.T896A
c.T896A
c.T896A
c.T896A		p.L255Q
p.L255Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q
p.L299Q		15.26-Yuan2023 E
PTEN     SMHC00996s000chr10:
89692904-89692904		CTexonicDe novostopgainNM_000314
NM_001304717		c.C388T
c.C907T		p.R130X
p.R303X		48.08.237E-6Yuan2023 E
LDB3     SMHC01587s000chr10:
88476117-88476117		CTexonicDe novononsynonymous SNVNM_001080114
NM_007078
NM_001171610		c.C935T
c.C1265T
c.C1280T		p.A312V
p.A422V
p.A427V		19.81-Yuan2023 E
DAPK1     SMHC00860s000chr9:
90261452-90261452		CGexonicDe novononsynonymous SNVNM_001288729
NM_001288730
NM_001288731
NM_004938		c.C1208G
c.C1208G
c.C1208G
c.C1208G		p.S403W
p.S403W
p.S403W
p.S403W		19.12-Yuan2023 E
RORB     SMHC01846d000chr9:
77286707-77286707		CTexonicDe novostopgainNM_006914c.C1114Tp.R372X37.0-Yuan2023 E
GAPVD1     SMHC01571s000chr9:
128122846-128122846		GCexonicDe novononsynonymous SNVNM_001282681
NM_015635
NM_001282679
NM_001282680		c.G4021C
c.G4165C
c.G4138C
c.G4084C		p.E1341Q
p.E1389Q
p.E1380Q
p.E1362Q		26.6-Yuan2023 E
TBC1D2     SMHC00844d000chr9:
100983217-100983217		CGexonicDe novononsynonymous SNVNM_001267571
NM_018421		c.G1272C
c.G1272C		p.K424N
p.K424N		18.09-Yuan2023 E
PSMC3     SMHC01651d000chr11:
47444227-47444227		AGexonicDe novononsynonymous SNVNM_002804c.T782Cp.I261T17.52-Yuan2023 E
LRP4     SMHC01910s000chr11:
46894745-46894745		CTexonicDe novononsynonymous SNVNM_002334c.G4489Ap.E1497K32.01.648E-5Yuan2023 E
VPS37C     SMHC01550s000chr11:
60899292-60899292		CCTexonicDe novoframeshift insertionNM_017966c.1067dupAp.X356delinsX-5.0E-4Yuan2023 E
VPS37C     SMHC00812s000chr11:
60899292-60899292		CCTexonicDe novoframeshift insertionNM_017966c.1067dupAp.X356delinsX-5.0E-4Yuan2023 E
ADAM12     SMHC00825s000chr10:
127724758-127724758		GCexonicDe novononsynonymous SNVNM_001288973
NM_003474		c.C2486G
c.C2495G		p.P829R
p.P832R		15.5-Yuan2023 E
GBF1     SMHC02030s000chr10:
104136449-104136449		GAexonicDe novononsynonymous SNVNM_001199378
NM_001199379
NM_004193		c.G4180A
c.G4177A
c.G4177A		p.V1394M
p.V1393M
p.V1393M		25.98.261E-6Yuan2023 E
CD82     SMHC02008s000chr11:
44621781-44621781		GAsplicingDe novosplicing19.05-Yuan2023 E
TRIM66     SMHC01654s000chr11:
8662081-8662081		GAexonicDe novononsynonymous SNVNM_014818c.C1406Tp.P469L9.989-Yuan2023 E
NAV3     SMHC01992s000chr12:
78360060-78360060		GAexonicDe novononsynonymous SNVNM_001024383
NM_014903		c.G466A
c.G466A		p.V156I
p.V156I		10.388.286E-6Yuan2023 E
CAND1     SMHC01954s000chr12:
67699044-67699044		TAexonicDe novononsynonymous SNVNM_018448c.T1596Ap.F532L15.88-Yuan2023 E
ZMYM2     SMHC01629s000chr13:
20632803-20632803		CCTexonicDe novoframeshift insertionNM_001190965
NM_197968
NM_001190964
NM_003453		c.2583dupT
c.2583dupT
c.2583dupT
c.2583dupT		p.T861fs
p.T861fs
p.T861fs
p.T861fs		--Yuan2023 E
BTBD11     SMHC01992s000chr12:
108012026-108012026		GAexonicDe novononsynonymous SNVNM_001017523
NM_001018072		c.G934A
c.G2323A		p.A312T
p.A775T		17.85-Yuan2023 E
CLSTN3     SMHC01812s000chr12:
7295542-7295542		CTexonicDe novononsynonymous SNVNM_014718c.C1618Tp.R540C26.31.648E-5Yuan2023 E
POLA2     SMHC01833d000chr11:
65043451-65043451		CAexonicDe novononsynonymous SNVNM_002689c.C443Ap.P148Q23.3-Yuan2023 E
PDE1B     SMHC01637s000chr12:
54967243-54967243		AGexonicDe novononsynonymous SNVNM_001315535
NM_001165975
NM_001288769
NM_001315534
NM_000924
NM_001288768		c.A329G
c.A881G
c.A818G
c.A530G
c.A941G
c.A530G		p.N110S
p.N294S
p.N273S
p.N177S
p.N314S
p.N177S		22.4-Yuan2023 E
GRIN2B     SMHC01859s000chr12:
13768500-13768500		TCexonicDe novononsynonymous SNVNM_000834c.A1427Gp.Y476C23.9-Yuan2023 E
RIN3     SMHC01813d000chr14:
93118563-93118563		GAexonicDe novononsynonymous SNVNM_024832c.G1169Ap.R390H14.331.0E-4Yuan2023 E
RASA3     SMHC00924s000chr13:
114783587-114783587		GAexonicDe novononsynonymous SNVNM_007368c.C1084Tp.R362W13.26-Yuan2023 E
BAHD1     SMHC01815s000chr15:
40756720-40756720		GAexonicDe novononsynonymous SNVNM_001301132
NM_014952		c.G2023A
c.G2026A		p.G675R
p.G676R		33.0-Yuan2023 E
MAGEL2     SMHC00842s000chr15:
23891536-23891536		GAexonicDe novononsynonymous SNVNM_019066c.C1354Tp.R452C--Yuan2023 E
NAA16     SMHC01648sfs0chr13:
41897318-41897318		AGexonicDe novononsynonymous SNVNM_001110798
NM_018527
NM_024561		c.A529G
c.A529G
c.A529G		p.T177A
p.T177A
p.T177A		24.7-Yuan2023 E
RFC3     SMHC01701s000chr13:
34409299-34409299		GAexonicDe novononsynonymous SNVNM_002915
NM_181558		c.G824A
c.G824A		p.R275H
p.R275H		22.98.279E-6Yuan2023 E
SOX1     SMHC01716s000chr13:
112722733-112722733		TGexonicDe novononsynonymous SNVNM_005986c.T761Gp.L254R18.79-Yuan2023 E
DOCK9     SMHC01584s000chr13:
99567629-99567629		GTexonicDe novononsynonymous SNVNM_001130049
NM_001130050		c.C849A
c.C846A		p.N283K
p.N282K		18.74-Yuan2023 E
CHD2     SMHC01912s000chr15:
93521558-93521558		CAexonicDe novononsynonymous SNVNM_001271c.C2672Ap.P891H28.3-Yuan2023 E
GTF2A2     SMHC00828s000chr15:
59944527-59944527		TCsplicingDe novosplicing--Yuan2023 E
TRAF7     SMHC01744s000chr16:
2226107-2226107		GAexonicDe novononsynonymous SNVNM_032271c.G1804Ap.V602M24.4-Yuan2023 E
RAB26     SMHC01798s000chr16:
2201910-2201910		GAsplicingDe novosplicing13.16-Yuan2023 E
UNC13C     SMHC01844d000chr15:
54793072-54793072		GAexonicDe novononsynonymous SNVNM_001080534c.G5197Ap.V1733M25.12.494E-5Yuan2023 E
FBN1     SMHC01707s000chr15:
48748860-48748860		TCexonicDe novononsynonymous SNVNM_000138c.A5396Gp.Y1799C23.8-Yuan2023 E
SLTM     SMHC01999s000chr15:
59225722-59225722		CGexonicDe novononsynonymous SNVNM_001013843
NM_024755		c.G43C
c.G43C		p.G15R
p.G15R		14.79-Yuan2023 E
GCOM1     SMHC01707s000chr15:
57917978-57917978		TAexonicDe novononsynonymous SNVNM_001018090
NM_001018091
NM_001018100
NM_001285900
NM_152451		c.T413A
c.T413A
c.T413A
c.T413A
c.T413A		p.V138D
p.V138D
p.V138D
p.V138D
p.V138D		16.0-Yuan2023 E
CHD9     SMHC01850s000chr16:
53301326-53301326		CTexonicDe novononsynonymous SNVNM_001308319
NM_025134		c.C4441T
c.C4441T		p.R1481W
p.R1481W		20.58.299E-6Yuan2023 E
SALL1     SMHC00811s000chr16:
51174121-51174121		TCexonicDe novononsynonymous SNVNM_001127892
NM_002968		c.A1721G
c.A2012G		p.K574R
p.K671R		18.43-Yuan2023 E
RRAD     SMHC02016s000chr16:
66959028-66959028		CAexonicDe novostopgainNM_001128850
NM_004165		c.G55T
c.G55T		p.E19X
p.E19X		20.3-Yuan2023 E
NDRG4     SMHC01637s000chr16:
58543215-58543215		TCexonicDe novononsynonymous SNVNM_001242834
NM_001242835
NM_001242836
NM_001242833
NM_001130487
NM_020465
NM_022910		c.T878C
c.T824C
c.T824C
c.T914C
c.T980C
c.T920C
c.T920C		p.L293P
p.L275P
p.L275P
p.L305P
p.L327P
p.L307P
p.L307P		16.34-Yuan2023 E
TXNDC11     SMHC00847s000chr16:
11824525-11824525		TAexonicDe novononsynonymous SNVNM_001303447
NM_015914		c.A675T
c.A675T		p.L225F
p.L225F		17.77-Yuan2023 E
SRRM2     SMHC01752s000chr16:
2806552-2806552		ATexonicDe novostopgainNM_016333c.A187Tp.K63X37.0-Yuan2023 E
SRCAP       SMHC01549s000chr16:
30723616-30723616		CTexonicDe novostopgainNM_006662c.C1849Tp.Q617X36.0-Yuan2023 E
NUPR1     SMHC01582s000chr16:
28550150-28550150		AATexonicDe novoframeshift insertionNM_001042483
NM_012385		c.78dupA
c.78dupA		p.S27fs
p.S27fs		--Yuan2023 E
NAGLU     SMHC01887d000chr17:
40688462-40688463		GCGexonicDe novoframeshift deletionNM_000263c.173delCp.A58fs--Yuan2023 E
KLHL10     SMHC02010s000chr17:
40001798-40001798		GAexonicDe novononsynonymous SNVNM_152467c.G1105Ap.V369M29.3-Yuan2023 E
MEIOC     SMHC01685s000chr17:
42743860-42743860		CCTTTexonicDe novononframeshift insertionNM_001145080c.581_582insTTTp.A194delinsAF--Yuan2023 E
FAM171A2     SMHC02028s000chr17:
42432539-42432539		CTexonicDe novononsynonymous SNVNM_198475c.G1043Ap.R348K31.0-Yuan2023 E
HYDIN     SMHC02032s000chr16:
70866872-70866872		TCexonicDe novononsynonymous SNVNM_001270974c.A13778Gp.Y4593C14.85-Yuan2023 E
CTCF     SMHC02088d000chr16:
67645346-67645350		CAAAGCexonicDe novoframeshift deletionNM_006565c.612_615delp.T204fs--Yuan2023 E
APRT     SMHC01554s000chr16:
88876836-88876836		CTexonicDe novononsynonymous SNVNM_000485
NM_001030018		c.G316A
c.G316A		p.G106R
p.G106R		17.239.722E-5Yuan2023 E
KLHDC4     SMHC01859s000chr16:
87760382-87760383		AGAexonicDe novoframeshift deletionNM_001184854
NM_001184856
NM_017566		c.576delC
c.654delC
c.747delC		p.G192fs
p.G218fs
p.G249fs		--Yuan2023 E
YIPF2     SMHC00827s000chr19:
11034826-11034826		AGexonicDe novononsynonymous SNVNM_024029c.T410Cp.V137A12.541.0E-4Yuan2023 E
NEDD4L     SMHC01890s000chr18:
55912695-55912695		TGexonicDe novononsynonymous SNVNM_001144967
NM_001144968
NM_001144969
NM_001243960
NM_015277		c.T159G
c.T135G
c.T135G
c.T159G
c.T159G		p.D53E
p.D45E
p.D45E
p.D53E
p.D53E		11.5-Yuan2023 E
LYL1     SMHC01850s000chr19:
13211736-13211736		GAexonicDe novononsynonymous SNVNM_005583c.C250Tp.R84W16.21.0E-4Yuan2023 E
ZNF878     SMHC00843s000chr19:
12155708-12155708		GGTexonicDe novoframeshift insertionNM_001080404c.507dupAp.P170fs-4.138E-5Yuan2023 E
MAP2K6     SMHC01676s000chr17:
67519768-67519768		AGexonicDe novononsynonymous SNVNM_002758c.A649Gp.K217E27.9-Yuan2023 E
TBX2     SMHC01810s000chr17:
59477614-59477615		TGTexonicDe novoframeshift deletionNM_005994c.78delGp.M26fs--Yuan2023 E
TCF4     SMHC01656s000chr18:
52896077-52896077		CTsplicingDe novosplicing28.7-Yuan2023 E
EMILIN2     SMHC01582s000chr18:
2890829-2890829		CCTexonicDe novoframeshift insertionNM_032048c.705dupTp.P235fs--Yuan2023 E
KCNC3     SMHC02027s000chr19:
50826670-50826670		ACexonicDe novononsynonymous SNVNM_004977c.T1540Gp.W514G6.722-Yuan2023 E
SPTBN4     SMHC01846d000chr19:
41062025-41062025		GAexonicDe novononsynonymous SNVNM_025213
NM_020971		c.G1148A
c.G5120A		p.R383H
p.R1707H		24.28.692E-6Yuan2023 E
TPX2     SMHC00813s000chr20:
30370163-30370163		TCexonicDe novononsynonymous SNVNM_012112c.T1166Cp.L389P14.64-Yuan2023 E
ZNF776     SMHC01815s000chr19:
58266020-58266020		CTexonicDe novostopgainNM_173632c.C1522Tp.R508X39.08.311E-6Yuan2023 E
PIK3R2       SMHC01815s000chr19:
18279284-18279284		GAsplicingDe novosplicing15.14-Yuan2023 E
JAK3     SMHC01856s000chr19:
17953126-17953126		TCexonicDe novononsynonymous SNVNM_000215c.A860Gp.E287G16.82-Yuan2023 E
PLEKHG2     SMHC01748s000chr19:
39913447-39913447		GAexonicDe novononsynonymous SNVNM_022835c.G1753Ap.A585T18.1-Yuan2023 E
SCN1B     SMHC01823s000chr19:
35523524-35523524		CTexonicDe novononsynonymous SNVNM_001037
NM_199037		c.C133T
c.C133T		p.R45C
p.R45C		13.118.239E-6Yuan2023 E
URB1     SMHC00831d000chr21:
33687357-33687357		GAexonicDe novostopgainNM_014825c.C6688Tp.Q2230X44.05.681E-5Yuan2023 E
CDH4     SMHC01887d000chr20:
60485580-60485580		CTexonicDe novononsynonymous SNVNM_001252338
NM_001252339
NM_001794		c.C1180T
c.C1069T
c.C1291T		p.R394C
p.R357C
p.R431C		13.61-Yuan2023 E
TCF20     SMHC00860s000chr22:
42609988-42609988		CCTexonicDe novoframeshift insertionNM_181492
NM_005650		c.1323dupA
c.1323dupA		p.G442fs
p.G442fs		--Yuan2023 E
CACNG2     SMHC01575s000chr22:
36960660-36960660		CGexonicDe novononsynonymous SNVNM_006078c.G710Cp.S237T17.91-Yuan2023 E
DHX35     SMHC01717s000chr20:
37632470-37632470		CTexonicDe novostopgainNM_001190809
NM_021931		c.C838T
c.C931T		p.R280X
p.R311X		33.0-Yuan2023 E
SOGA1     SMHC00824s000chr20:
35434275-35434275		TAexonicDe novononsynonymous SNVNM_080627
NM_199181		c.A2900T
c.A2186T		p.D967V
p.D729V		15.57-Yuan2023 E
CYP24A1     SMHC00822d000chr20:
52773965-52773965		GAexonicDe novostopgainNM_000782c.C1396Tp.R466X42.0-Yuan2023 E
RBPJL     SMHC00820s000chr20:
43945378-43945378		GCexonicDe novononsynonymous SNVNM_001281448
NM_001281449
NM_014276		c.G1343C
c.G1330C
c.G1333C		p.R448P
p.D444H
p.D445H		32.0-Yuan2023 E
RAB9B     SMHC00842s000chrX:
103080174-103080174		GAexonicDe novononsynonymous SNVNM_016370c.C541Tp.H181Y9.714-Yuan2023 E
FAM47C     SMHC01812s000chrX:
37028209-37028209		GAexonicDe novononsynonymous SNVNM_001013736c.G1726Ap.D576N13.24.0E-4Yuan2023 E
Source Variant Information

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Paper Information
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Authors
Technology
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Design
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Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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