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Results for "Woodbury-Smith2022"

Variant Events: 200

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
SEC13     111297chr3:
10354325-10354325		AGexonicnonsynonymous SNVNM_001136232
NM_001278946
NM_183352
NM_001136026
NM_030673		c.T212C
c.T254C
c.T254C
c.T392C
c.T263C		p.I71T
p.I85T
p.I85T
p.I131T
p.I88T		25.2-Woodbury-Smith2022 E
SELENOO     111292chr22:
50644829-50644829		CAexonicunknown22.18.338E-6Woodbury-Smith2022 E
DGCR8     111304chr22:
20077261-20077261		CTexonicnonsynonymous SNVNM_001190326
NM_022720		c.C950T
c.C950T		p.P317L
p.P317L		33.02.471E-5Woodbury-Smith2022 E
QSER1     111297chr11:
32975709-32975709		AGexonicnonsynonymous SNVNM_001076786c.A4097Gp.D1366G24.5-Woodbury-Smith2022 E
CDH13     133344chr16:
83711952-83711952		CTexonicnonsynonymous SNVNM_001220489
NM_001220490
NM_001257
NM_001220488		c.C1307T
c.C662T
c.C1424T
c.C1565T		p.P436L
p.P221L
p.P475L
p.P522L		24.2-Woodbury-Smith2022 E
MPP4     111317chr2:
202545595-202545595		CAexonicnonsynonymous SNVNM_033066c.G895Tp.A299S25.41.0E-4Woodbury-Smith2022 E
CNTN3     111292chr3:
74474010-74474010		GAexonicnonsynonymous SNVNM_020872c.C440Tp.P147L20.6-Woodbury-Smith2022 E
MAPK7     111289chr17:
19282433-19282433		CTexonicnonsynonymous SNVNM_002749
NM_139033
NM_139034		c.C220T
c.C220T
c.C220T		p.R74C
p.R74C
p.R74C		24.95.649E-5Woodbury-Smith2022 E
DDX28     133339chr16:
68055548-68055548		GAexonicnonsynonymous SNVNM_018380c.C1558Tp.R520C22.0-Woodbury-Smith2022 E
FRY     111317chr13:
32799158-32799158		CTexonicnonsynonymous SNVNM_023037c.C5005Tp.H1669Y25.8-Woodbury-Smith2022 E
CACNA1C     111289chr12:
2717736-2717736		GAexonicnonsynonymous 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		c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3407A
c.G3416A
c.G3416A
c.G3416A
c.G3416A
c.G3476A
c.G3476A
c.G3476A		p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1136H
p.R1139H
p.R1139H
p.R1139H
p.R1139H
p.R1159H
p.R1159H
p.R1159H		28.9-Woodbury-Smith2022 E
CSMD2     133344chr1:
34099122-34099122		CAexonicnonsynonymous SNVNM_001281956
NM_052896		c.G5100T
c.G4980T		p.Q1700H
p.Q1660H		20.80.001Woodbury-Smith2022 E
KIF2C     111308chr1:
45227607-45227607		GAexonicnonsynonymous SNVNM_001297655
NM_001297656
NM_001297657
NM_006845		c.G1580A
c.G1541A
c.G1364A
c.G1703A		p.G527D
p.G514D
p.G455D
p.G568D		31.0-Woodbury-Smith2022 E
SRSF11     111305chr1:
70694181-70694181		CTexonicnonsynonymous SNVNM_001190987
NM_004768		c.C280T
c.C280T		p.H94Y
p.H94Y		21.98.238E-6Woodbury-Smith2022 E
FBXW9     111312chr19:
12807149-12807149		GTexonicnonsynonymous SNVNM_032301c.C247Ap.P83T28.17.444E-5Woodbury-Smith2022 E
MEGF8     111309chr19:
42857121-42857121		CTexonicnonsynonymous SNVNM_001410
NM_001271938		c.C3191T
c.C3392T		p.P1064L
p.P1131L		21.91.852E-5Woodbury-Smith2022 E
CHGB     111300chr20:
5897010-5897010		GCexonicnonsynonymous SNVNM_001819c.G88Cp.E30Q21.7-Woodbury-Smith2022 E
PROSER1     111299chr13:
39597191-39597191		GCexonicnonsynonymous SNVNM_025138c.C641Gp.P214R27.2-Woodbury-Smith2022 E
CDC42BPA     111304chr1:
227262042-227262042		CTexonicnonsynonymous SNVNM_014826
NM_003607		c.G2261A
c.G2504A		p.R754Q
p.R835Q		36.0-Woodbury-Smith2022 E
SNAPC4     111302chr9:
139279214-139279214		CTexonicnonsynonymous SNVNM_003086c.G1378Ap.E460K21.88.287E-6Woodbury-Smith2022 E
NPEPL1     111292chr20:
57289091-57289091		CTexonicnonsynonymous SNVNM_024663
NM_001204872
NM_001204873		c.C1244T
c.C1160T
c.C1100T		p.P415L
p.P387L
p.P367L		29.4-Woodbury-Smith2022 E
KCNQ3     111291chr8:
133187845-133187845		GAexonicnonsynonymous SNVNM_001204824
NM_004519		c.C428T
c.C788T		p.T143M
p.T263M		25.9-Woodbury-Smith2022 E
WNK1     111299chr12:
1006676-1006676		CTexonicnonsynonymous SNVNM_014823
NM_001184985
NM_018979
NM_213655		c.C5533T
c.C7057T
c.C6277T
c.C7033T		p.R1845C
p.R2353C
p.R2093C
p.R2345C		20.41.651E-5Woodbury-Smith2022 E
EPS15L1     111296chr19:
16466547-16466547		GTexonicnonsynonymous SNVNM_001258374c.C2702Ap.A901E24.7-Woodbury-Smith2022 E
EVA1A     111308chr2:
75720435-75720435		CTexonicnonsynonymous SNVNM_001135032
NM_032181		c.G386A
c.G386A		p.R129H
p.R129H		33.0-Woodbury-Smith2022 E
MYH6     111305chr14:
23855204-23855204		CTexonicnonsynonymous SNVNM_002471c.G5096Ap.R1699Q34.01.649E-5Woodbury-Smith2022 E
RIPOR2     111310chr6:
24865642-24865642		GAexonicnonsynonymous SNVNM_001286445
NM_001286446
NM_001286447
NM_014722
NM_015864		c.C538T
c.C553T
c.C451T
c.C451T
c.C451T		p.R180C
p.R185C
p.R151C
p.R151C
p.R151C		24.48.661E-6Woodbury-Smith2022 E
ACHE     111308chr7:
100491502-100491502		TCexonicnonsynonymous SNVNM_000665
NM_001282449
NM_001302621
NM_001302622
NM_015831		c.A352G
c.A352G
c.A352G
c.A352G
c.A352G		p.N118D
p.N118D
p.N118D
p.N118D
p.N118D		21.5-Woodbury-Smith2022 E
ESM1     111304chr5:
54277954-54277954		CTexonicnonsynonymous SNVNM_007036c.G322Ap.G108R32.0-Woodbury-Smith2022 E
QTRT2     111304chr3:
113795699-113795699		TCexonicnonsynonymous SNVNM_001256836
NM_001256837
NM_001256835
NM_024638		c.T338C
c.T287C
c.T692C
c.T656C		p.L113P
p.L96P
p.L231P
p.L219P		27.31.65E-5Woodbury-Smith2022 E
IQSEC3     111305chr12:
266860-266860		GAexonicnonsynonymous SNVNM_015232
NM_001170738		c.G1534A
c.G2443A		p.G512S
p.G815S		25.7-Woodbury-Smith2022 E
MYOM3     111305chr1:
24388532-24388532		TAexonicnonsynonymous SNVNM_152372c.A3838Tp.I1280F27.5-Woodbury-Smith2022 E
NRDE2     111313chr14:
90769345-90769345		TCexonicnonsynonymous SNVNM_017970c.A1130Gp.N377S26.92.487E-5Woodbury-Smith2022 E
MAP3K1     111313chr5:
56160717-56160717		GAexonicnonsynonymous SNVNM_005921c.G991Ap.G331R29.2-Woodbury-Smith2022 E
ZAN     133339chr7:
100364233-100364233		GAexonicunknown25.1-Woodbury-Smith2022 E
FAM149B1     111317chr10:
74992768-74992768		GAexonicnonsynonymous SNVNM_173348c.G1199Ap.R400Q33.03.0E-4Woodbury-Smith2022 E
TUSC5     111311chr17:
1198822-1198822		CTexonicnonsynonymous SNVNM_172367c.C425Tp.A142V31.0-Woodbury-Smith2022 E
ACP2     111310chr11:
47264589-47264589		TAexonicnonsynonymous SNVNM_001302491
NM_001302490
NM_001302492
NM_001302489
NM_001610		c.A753T
c.A846T
c.A381T
c.A858T
c.A942T		p.E251D
p.E282D
p.E127D
p.E286D
p.E314D		23.0-Woodbury-Smith2022 E
VPS13C     111312chr15:
62251718-62251718		GAexonicnonsynonymous SNVNM_017684
NM_018080
NM_001018088
NM_020821		c.C3856T
c.C3856T
c.C3985T
c.C3985T		p.R1286W
p.R1286W
p.R1329W
p.R1329W		21.72.493E-5Woodbury-Smith2022 E
RIOX2     111312chr3:
97664666-97664666		CAexonicnonsynonymous SNVNM_001042533
NM_001261829
NM_032778
NM_153182		c.G1215T
c.G1212T
c.G1212T
c.G1215T		p.M405I
p.M404I
p.M404I
p.M405I		26.23.31E-5Woodbury-Smith2022 E
WNT10B     111291chr12:
49360281-49360281		CTexonicnonsynonymous SNVNM_003394c.G767Ap.C256Y23.5-Woodbury-Smith2022 E
HARS     111289chr5:
140062767-140062767		CTexonicnonsynonymous SNVNM_001258041
NM_001289092
NM_001289094
NM_002109		c.G218A
c.G218A
c.G131A
c.G218A		p.R73H
p.R73H
p.R44H
p.R73H		35.02.471E-5Woodbury-Smith2022 E
DCAKD     111297chr17:
43102069-43102069		CAexonicnonsynonymous SNVNM_001128631
NM_001288654
NM_001288655
NM_024819		c.G428T
c.G428T
c.G428T
c.G428T		p.R143L
p.R143L
p.R143L
p.R143L		36.08.847E-6Woodbury-Smith2022 E
CLEC3B     111297chr3:
45077028-45077028		GAexonicnonsynonymous SNVNM_001308394
NM_003278		c.G95A
c.G221A		p.G32E
p.G74E		24.58.763E-6Woodbury-Smith2022 E
PELI3     133341chr11:
66243228-66243228		GAexonicnonsynonymous SNVNM_001243136
NM_001098510
NM_001243135
NM_145065		c.G679A
c.G928A
c.G811A
c.G1000A		p.V227M
p.V310M
p.V271M
p.V334M		22.4-Woodbury-Smith2022 E
METTL13     133341chr1:
171751202-171751202		AGexonicnonsynonymous SNVNM_001007239
NM_015935		c.A95G
c.A95G		p.Y32C
p.Y32C		27.58.237E-6Woodbury-Smith2022 E
SLC3A1     111289chr2:
44539747-44539747		GAexonicnonsynonymous SNVNM_000341c.G1355Ap.R452Q35.08.241E-6Woodbury-Smith2022 E
NTAN1     133350chr16:
15135488-15135488		CAexonicnonsynonymous SNVNM_001270767
NM_001270766
NM_173474		c.G164T
c.G164T
c.G479T		p.C55F
p.C55F
p.C160F		20.28.236E-6Woodbury-Smith2022 E
IGF1R     111302chr15:
99491924-99491924		TAexonicnonsynonymous SNVNM_000875
NM_001291858		c.T3709A
c.T3706A		p.C1237S
p.C1236S		31.05.771E-5Woodbury-Smith2022 E
RYR1     111300chr19:
38954069-38954069		CAexonicnonsynonymous SNVNM_000540
NM_001042723		c.C2584A
c.C2584A		p.L862M
p.L862M		9.582-Woodbury-Smith2022 E
DNA2     111305chr10:
70191632-70191632		GAexonicnonsynonymous SNVNM_001080449c.C1970Tp.T657M27.62.485E-5Woodbury-Smith2022 E
OR52M1     111304chr11:
4566881-4566881		GAexonicnonsynonymous SNVNM_001004137c.G461Ap.G154D9.922-Woodbury-Smith2022 E
CDC7     111299chr1:
91973468-91973468		TGexonicnonsynonymous SNVNM_001134419
NM_001134420
NM_003503		c.T173G
c.T173G
c.T173G		p.F58C
p.F58C
p.F58C		23.1-Woodbury-Smith2022 E
RALGAPA2     111297chr20:
20586055-20586055		GAexonicnonsynonymous SNVNM_020343c.C1802Tp.T601M21.11.79E-5Woodbury-Smith2022 E
CARNS1     111300chr11:
67191666-67191666		GAexonicnonsynonymous SNVNM_020811
NM_001166222		c.G2078A
c.G2447A		p.R693H
p.R816H		23.48.382E-6Woodbury-Smith2022 E
CACNA1S     111300chr1:
201046190-201046190		ATexonicnonsynonymous SNVNM_000069c.T1685Ap.L562Q23.9-Woodbury-Smith2022 E
PIGG     111311chr4:
499699-499699		GTexonicnonsynonymous SNVNM_001127178
NM_001289051
NM_001289053
NM_001289057
NM_017733
NM_001289055		c.G553T
c.G286T
c.G286T
c.G286T
c.G553T
c.G187T		p.V185L
p.V96L
p.V96L
p.V96L
p.V185L
p.V63L		25.64.977E-5Woodbury-Smith2022 E
HRH1     111311chr3:
11301352-11301352		AGexonicnonsynonymous SNVNM_001098211
NM_001098212
NM_001098213
NM_000861		c.A629G
c.A629G
c.A629G
c.A629G		p.Y210C
p.Y210C
p.Y210C
p.Y210C		22.21.648E-5Woodbury-Smith2022 E
SLC12A6     111311chr15:
34542879-34542879		GCexonicnonsynonymous SNVNM_001042497
NM_005135
NM_133647
NM_001042494
NM_001042495
NM_001042496		c.C1499G
c.C1391G
c.C1544G
c.C1367G
c.C1367G
c.C1517G		p.S500C
p.S464C
p.S515C
p.S456C
p.S456C
p.S506C		24.1-Woodbury-Smith2022 E
WNT8A     111311chr5:
137423525-137423525		TCexonicnonsynonymous SNVNM_001300938
NM_001300939
NM_058244		c.T326C
c.T326C
c.T272C		p.I109T
p.I109T
p.I91T		22.8-Woodbury-Smith2022 E
LRRFIP1     111308chr2:
238662099-238662099		CTexonicnonsynonymous SNVNM_001137551
NM_001137553
NM_004735
NM_001137552
NM_001137550		c.C463T
c.C463T
c.C559T
c.C631T
c.C1015T		p.R155W
p.R155W
p.R187W
p.R211W
p.R339W		20.82.492E-5Woodbury-Smith2022 E
ALKBH3     111305chr11:
43941523-43941523		GAexonicnonsynonymous SNVNM_139178c.G824Ap.R275Q29.6-Woodbury-Smith2022 E
GPR17     111311chr2:
128409186-128409186		GAexonicnonsynonymous SNVNM_001161417
NM_001161416
NM_005291
NM_001161415		c.G877A
c.G877A
c.G961A
c.G961A		p.D293N
p.D293N
p.D321N
p.D321N		27.13.318E-5Woodbury-Smith2022 E
SLIT3     111309chr5:
168233455-168233455		CTexonicnonsynonymous SNVNM_001271946
NM_003062		c.G931A
c.G931A		p.E311K
p.E311K		35.0-Woodbury-Smith2022 E
NIT2     133338chr3:
100067724-100067724		CTexonicnonsynonymous SNVNM_020202c.C583Tp.R195W20.33.317E-5Woodbury-Smith2022 E
CHL1     111317chr3:
386295-386295		CTexonicnonsynonymous SNVNM_001253388
NM_001253387
NM_006614		c.C751T
c.C703T
c.C751T		p.P251S
p.P235S
p.P251S		27.6-Woodbury-Smith2022 E
TOGARAM2     133341chr2:
29247086-29247086		GAexonicnonsynonymous SNVNM_199280c.G1699Ap.D567N31.07.009E-5Woodbury-Smith2022 E
TMEM131L     133338chr4:
154544151-154544151		GCexonicnonsynonymous SNVNM_001131007
NM_015196		c.G3961C
c.G3958C		p.G1321R
p.G1320R		27.9-Woodbury-Smith2022 E
FSHR     111316chr2:
49217744-49217744		GTexonicnonsynonymous SNVNM_000145
NM_181446		c.C407A
c.C407A		p.P136Q
p.P136Q		20.2-Woodbury-Smith2022 E
GALNT14     111316chr2:
31178597-31178597		GAexonicnonsynonymous SNVNM_024572
NM_001253826
NM_001253827		c.C541T
c.C556T
c.C481T		p.R181W
p.R186W
p.R161W		28.58.258E-6Woodbury-Smith2022 E
LRRC23     111316chr12:
7022036-7022036		CTexonicnonsynonymous SNVNM_001135217
NM_201650		c.C901T
c.C901T		p.R301C
p.R301C		20.51.647E-5Woodbury-Smith2022 E
PRKCQ     111316chr10:
6553075-6553075		CTexonicnonsynonymous SNVNM_001242413
NM_001282644
NM_006257		c.G200A
c.G92A
c.G200A		p.G67E
p.G31E
p.G67E		27.88.237E-6Woodbury-Smith2022 E
FAM173B     111297chr5:
10235368-10235368		ACexonicnonsynonymous SNVNM_001258389c.T406Gp.F136V--Woodbury-Smith2022 E
MGAM2     111292chr7:
141859115-141859115		CAexonicnonsynonymous SNVNM_001293626c.C2192Ap.P731H22.1-Woodbury-Smith2022 E
PTEN     111299chr10:
89685300-89685300		CAexonicstopgainNM_000314
NM_001304717		c.C195A
c.C714A		p.Y65X
p.Y238X		49.0-Woodbury-Smith2022 E
PMF1     111299chr1:
156195445-156195445		CGexonicnonsynonymous SNVNM_001199654c.C259Gp.P87A6.7295.022E-5Woodbury-Smith2022 E
ZDHHC14     133344chr6:
158014131-158014131		TCexonicnonsynonymous SNVNM_024630
NM_153746		c.T518C
c.T518C		p.F173S
p.F173S		25.3-Woodbury-Smith2022 E
MEGF6     133343chr1:
3428641-3428641		TCexonicnonsynonymous SNVNM_001409c.A905Gp.N302S20.78.445E-6Woodbury-Smith2022 E
MEI1     111290chr22:
42128474-42128474		CTexonicstopgainNM_152513c.C1198Tp.Q400X37.08.293E-6Woodbury-Smith2022 E
FN1     133350chr2:
216240027-216240027		CTexonicnonsynonymous SNVNM_001306131
NM_001306132
NM_212474
NM_212476
NM_001306130
NM_002026
NM_212478
NM_001306129
NM_212482		c.G5524A
c.G5524A
c.G5524A
c.G5524A
c.G5797A
c.G5794A
c.G5794A
c.G6067A
c.G6067A		p.G1842S
p.G1842S
p.G1842S
p.G1842S
p.G1933S
p.G1932S
p.G1932S
p.G2023S
p.G2023S		34.02.472E-5Woodbury-Smith2022 E
HMCN2     111309chr9:
133284304-133284304		CTexonicunknown--Woodbury-Smith2022 E
CPEB2     111308chr4:
15004401-15004401		CTexonicnonsynonymous SNVNM_001177381
NM_001177382
NM_001177383
NM_001177384
NM_182485
NM_182646		c.C104T
c.C104T
c.C104T
c.C104T
c.C104T
c.C104T		p.S35F
p.S35F
p.S35F
p.S35F
p.S35F
p.S35F		6.321-Woodbury-Smith2022 E
GNA12     111310chr7:
2802363-2802363		GAexonicnonsynonymous SNVNM_001282440c.C160Tp.H54Y3.136-Woodbury-Smith2022 E
HSPBP1     111309chr19:
55791101-55791101		CGexonicnonsynonymous SNVNM_001297600c.G14Cp.R5P--Woodbury-Smith2022 E
GPT     111302chr8:
145731233-145731233		CTexonicstopgainNM_005309c.C742Tp.Q248X36.06.404E-5Woodbury-Smith2022 E
ZNF518A     111300chr10:
97917911-97917911		AGexonicunknown-8.366E-6Woodbury-Smith2022 E
DSG3     111305chr18:
29056164-29056164		CTexonicstopgainNM_001944c.C2941Tp.Q981X32.0-Woodbury-Smith2022 E
VPS11     111305chr11:
118951915-118951915		CTexonicunknown--Woodbury-Smith2022 E
FAM71F1     111313chr7:
128356977-128356977		CTexonicstopgainNM_001282789c.C124Tp.Q42X37.04.974E-5Woodbury-Smith2022 E
RGSL1     111313chr1:
182443325-182443325		CTexonicnonsynonymous SNVNM_001137669c.C1079Tp.A360V--Woodbury-Smith2022 E
IFI27     111316chr14:
94582267-94582267		CTexonicnonsynonymous SNVNM_001288959c.C137Tp.S46F-8.321E-5Woodbury-Smith2022 E
SSPO     111313chr7:
149511650-149511650		GTexonicnonsynonymous SNVNM_198455c.G10310Tp.C3437F--Woodbury-Smith2022 E
SH3GLB1     111311chr1:
87194161-87194161		AGexonicnonsynonymous SNVNM_001206651c.A646Gp.K216E--Woodbury-Smith2022 E
MARCH8     111310chr10:
45958660-45958660		AGexonicnonsynonymous SNVNM_001282866c.T1027Cp.S343P21.16.0E-4Woodbury-Smith2022 E
111312chr3:
46658790-46658790		CTexonicnonsynonymous SNVNM_001195442c.C151Tp.R51C--Woodbury-Smith2022 E
WDR87     111311chr19:
38377803-38377803		CAexonicstopgainNM_001291088
NM_031951		c.G6508T
c.G6391T		p.E2170X
p.E2131X		47.0-Woodbury-Smith2022 E
KRTAP21-3     133350chr21:
32090989-32090989		CTexonicnonsynonymous SNVNM_001164435c.G89Ap.C30Y6.4285.0E-4Woodbury-Smith2022 E
ARFRP1     133343chr20:
62333230-62333230		CTexonicnonsynonymous SNVNM_001267544c.G367Ap.A123T--Woodbury-Smith2022 E
CDC14B     133338chr9:
99296743-99296743		CAexonicstopgainNM_001077181
NM_003671
NM_033331		c.G598T
c.G709T
c.G709T		p.E200X
p.E237X
p.E237X		26.1-Woodbury-Smith2022 E
TMEM225B     133350chr7:
99202043-99202043		GAexonicnonsynonymous SNVNM_001195541
NM_001195542
NM_001195543		c.G32A
c.G32A
c.G32A		p.G11E
p.G11E
p.G11E		-8.154E-5Woodbury-Smith2022 E
TMEM225B     133350chr7:
99202019-99202019		CTexonicnonsynonymous SNVNM_001195541
NM_001195542
NM_001195543		c.C8T
c.C8T
c.C8T		p.T3M
p.T3M
p.T3M		-7.0E-4Woodbury-Smith2022 E
CENPW     111316chr6:
126661511-126661511		CGexonicnonsynonymous SNVNM_001012507
NM_001286524
NM_001286525		c.C92G
c.C92G
c.C92G		p.P31R
p.P31R
p.P31R		20.68.238E-6Woodbury-Smith2022 E
KCNS1     133339chr20:
43726737-43726737		ATexonicnonsynonymous SNVNM_002251c.T676Ap.S226T25.5-Woodbury-Smith2022 E
SPATS2     111290chr12:
49918498-49918498		CAexonicnonsynonymous SNVNM_001293286
NM_023071
NM_001293285		c.C1145A
c.C1145A
c.C1145A		p.S382Y
p.S382Y
p.S382Y		25.18.237E-6Woodbury-Smith2022 E
KIAA1468     111316chr18:
59949588-59949588		AGexonicnonsynonymous SNVNM_020854c.A3164Gp.Q1055R26.2-Woodbury-Smith2022 E
RAB31     111309chr18:
9814045-9814045		GAexonicnonsynonymous SNVNM_006868c.G230Ap.R77Q35.0-Woodbury-Smith2022 E
SFXN1     111304chr5:
174940533-174940533		GAexonicnonsynonymous SNVNM_022754c.G664Ap.A222T20.3-Woodbury-Smith2022 E
ALB     133339chr4:
74275118-74275118		GAexonicnonsynonymous SNVNM_000477c.G529Ap.E177K20.8-Woodbury-Smith2022 E
VPS13A     111316chr9:
79852989-79852989		CAexonicnonsynonymous SNVNM_001018037
NM_001018038
NM_015186
NM_033305		c.C1667A
c.C1667A
c.C1667A
c.C1667A		p.S556Y
p.S556Y
p.S556Y
p.S556Y		23.3-Woodbury-Smith2022 E
MAP3K4     111313chr6:
161527642-161527642		TCexonicnonsynonymous SNVNM_006724
NM_001301072
NM_005922
NM_001291958		c.T3803C
c.T3941C
c.T3953C
c.T2312C		p.I1268T
p.I1314T
p.I1318T
p.I771T		24.41.648E-5Woodbury-Smith2022 E
ABCC4     111310chr13:
95839058-95839058		TAexonicnonsynonymous SNVNM_001301830
NM_001105515
NM_001301829
NM_005845		c.A1217T
c.A1442T
c.A1442T
c.A1442T		p.Q406L
p.Q481L
p.Q481L
p.Q481L		32.0-Woodbury-Smith2022 E
RRP12     111317chr10:
99141549-99141549		GAexonicnonsynonymous SNVNM_001284337
NM_001145114
NM_015179		c.C943T
c.C1060T
c.C1243T		p.R315C
p.R354C
p.R415C		32.0-Woodbury-Smith2022 E
DSPP     111305chr4:
88535225-88535225		TCexonicnonsynonymous SNVNM_014208c.T1411Cp.S471P5.021-Woodbury-Smith2022 E
TTC25     111305chr17:
40087020-40087020		CTexonicunknown25.5-Woodbury-Smith2022 E
ABCC4     111312chr13:
95768240-95768240		CTexonicnonsynonymous SNVNM_001301829
NM_001301830
NM_001105515
NM_005845		c.G2330A
c.G2246A
c.G2471A
c.G2471A		p.R777H
p.R749H
p.R824H
p.R824H		21.0-Woodbury-Smith2022 E
ZSWIM1     111308chr20:
44511962-44511962		GAexonicnonsynonymous SNVNM_080603c.G731Ap.R244H22.28.247E-6Woodbury-Smith2022 E
ALG8     133339chr11:
77817853-77817853		CTexonicnonsynonymous SNVNM_001007027
NM_024079		c.G1178A
c.G1178A		p.S393N
p.S393N		33.01.648E-5Woodbury-Smith2022 E
ALG8     111308chr11:
77817853-77817853		CTexonicnonsynonymous SNVNM_001007027
NM_024079		c.G1178A
c.G1178A		p.S393N
p.S393N		33.01.648E-5Woodbury-Smith2022 E
CUBN     111289chr10:
16946066-16946066		GCexonicnonsynonymous SNVNM_001081c.C7961Gp.P2654R22.9-Woodbury-Smith2022 E
DHX38     111316chr16:
72137602-72137602		TCexonicnonsynonymous SNVNM_014003c.T1739Cp.I580T23.68.246E-6Woodbury-Smith2022 E
DNAH14     111296chr1:
225490981-225490981		CTexonicnonsynonymous SNVNM_001373c.C8476Tp.P2826S20.3-Woodbury-Smith2022 E
PSMD2     111289chr3:
184017657-184017657		CTexonicnonsynonymous SNVNM_002808c.C154Tp.L52F28.51.647E-5Woodbury-Smith2022 E
ZNF827     133343chr4:
146823899-146823899		CTexonicnonsynonymous SNVNM_001306215
NM_178835		c.G512A
c.G512A		p.R171K
p.R171K		28.9-Woodbury-Smith2022 E
FGD4     133339chr12:
32778703-32778703		CTexonicnonsynonymous SNVNM_001304480
NM_001304481
NM_139241
NM_001304483
NM_001304484		c.C2087T
c.C2006T
c.C1751T
c.C1007T
c.C719T		p.A696V
p.A669V
p.A584V
p.A336V
p.A240V		28.7-Woodbury-Smith2022 E
TM9SF1     111304chr14:
24658968-24658968		GAexonicnonsynonymous SNVNM_001289006
NM_006405		c.C1213T
c.C1474T		p.R405W
p.R492W		23.3-Woodbury-Smith2022 E
VIT     133343chr2:
36982171-36982171		GAexonicnonsynonymous SNVNM_001177969
NM_001177970
NM_001177971
NM_001177972
NM_053276		c.G383A
c.G383A
c.G383A
c.G383A
c.G383A		p.R128Q
p.R128Q
p.R128Q
p.R128Q
p.R128Q		22.0-Woodbury-Smith2022 E
CRTAC1     111308chr10:
99625365-99625365		GAexonicnonsynonymous SNVNM_001010917c.G412Ap.E138K33.0-Woodbury-Smith2022 E
MINK1     111304chr17:
4796055-4796055		GAexonicnonsynonymous SNVNM_015716
NM_170663
NM_001024937
NM_153827		c.G2192A
c.G2192A
c.G2243A
c.G2303A		p.R731H
p.R731H
p.R748H
p.R768H		22.52.0E-4Woodbury-Smith2022 E
SYT9     111311chr11:
7334958-7334958		AGexonicnonsynonymous SNVNM_175733c.A830Gp.H277R23.82.471E-5Woodbury-Smith2022 E
BBX     133338chr3:
107497312-107497312		AGexonicnonsynonymous SNVNM_001142568
NM_020235		c.A2149G
c.A2149G		p.R717G
p.R717G		27.38.266E-6Woodbury-Smith2022 E
POU2F1     133344chr1:
167367231-167367231		AGexonicnonsynonymous SNVNM_001198786
NM_001198783
NM_002697		c.A941G
c.A1097G
c.A1130G		p.E314G
p.E366G
p.E377G		21.21.659E-5Woodbury-Smith2022 E
ZBTB49     133338chr4:
4323029-4323029		GAexonicnonsynonymous SNVNM_145291c.G2284Ap.E762K29.2-Woodbury-Smith2022 E
PIAS3     111290chr1:
145584243-145584243		AGexonicnonsynonymous SNVNM_006099c.A1394Gp.K465R25.78.243E-6Woodbury-Smith2022 E
MYH1     133343chr17:
10411812-10411812		CTexonicnonsynonymous SNVNM_005963c.G1765Ap.V589M26.94.943E-5Woodbury-Smith2022 E
GFM1     111312chr3:
158383151-158383151		GAexonicnonsynonymous SNVNM_001308166
NM_024996
NM_001308164		c.G1406A
c.G1406A
c.G1463A		p.G469D
p.G469D
p.G488D		27.68.442E-6Woodbury-Smith2022 E
CLUH     133341chr17:
2597205-2597205		CTexonicnonsynonymous SNVNM_015229c.G3103Ap.D1035N25.81.182E-5Woodbury-Smith2022 E
MIA2       111310chr14:
39706237-39706237		GTexonicnonsynonymous SNVNM_054024c.G227Tp.R76M21.62.508E-5Woodbury-Smith2022 E
TRIM67     111304chr1:
231299358-231299358		CAexonicnonsynonymous SNVNM_001004342
NM_001300889		c.C643A
c.C523A		p.P215T
p.P175T		24.4-Woodbury-Smith2022 E
ATP2A1     111316chr16:
28900137-28900137		GAexonicnonsynonymous SNVNM_001286075
NM_004320
NM_173201		c.G583A
c.G958A
c.G958A		p.A195T
p.A320T
p.A320T		26.02.475E-5Woodbury-Smith2022 E
HIPK4     111302chr19:
40889838-40889838		CTexonicnonsynonymous SNVNM_144685c.G674Ap.R225H35.05.771E-5Woodbury-Smith2022 E
SLC22A3     111311chr6:
160828221-160828221		GCexonicnonsynonymous SNVNM_021977c.G682Cp.V228L28.25.93E-5Woodbury-Smith2022 E
CUL7     111302chr6:
43008300-43008300		GCexonicnonsynonymous SNVNM_001168370
NM_014780		c.C4243G
c.C3991G		p.L1415V
p.L1331V		22.3-Woodbury-Smith2022 E
EPAS1     111299chr2:
46603835-46603835		GAexonicnonsynonymous SNVNM_001430c.G1192Ap.E398K36.0-Woodbury-Smith2022 E
CERS6     133343chr2:
169551553-169551553		ACexonicnonsynonymous SNVNM_001256126
NM_203463		c.A601C
c.A601C		p.K201Q
p.K201Q		21.3-Woodbury-Smith2022 E
KIF3B     111296chr20:
30918073-30918073		GAexonicnonsynonymous SNVNM_004798c.G2098Ap.V700M21.2-Woodbury-Smith2022 E
ELMO3     111311chr16:
67234419-67234419		CTexonicnonsynonymous SNVNM_024712c.C638Tp.S213F22.07.504E-5Woodbury-Smith2022 E
HECTD3     111309chr1:
45473928-45473928		GAexonicnonsynonymous SNVNM_024602c.C1304Tp.T435I26.88.293E-6Woodbury-Smith2022 E
PLPBP     133339chr8:
37633520-37633520		GAexonicnonsynonymous SNVNM_007198c.G682Ap.D228N36.0-Woodbury-Smith2022 E
MYO3B     111304chr2:
171238543-171238543		CTexonicnonsynonymous SNVNM_001083615
NM_138995		c.C989T
c.C989T		p.T330I
p.T330I		28.6-Woodbury-Smith2022 E
TRIM2     133350chr4:
154256086-154256086		CTexonicnonsynonymous SNVNM_001130067
NM_015271		c.C2203T
c.C2284T		p.H735Y
p.H762Y		23.6-Woodbury-Smith2022 E
NDUFS2     111311chr1:
161179959-161179959		GAexonicnonsynonymous SNVNM_001166159
NM_004550		c.G761A
c.G761A		p.R254Q
p.R254Q		29.01.65E-5Woodbury-Smith2022 E
AP2M1     133338chr3:
183894812-183894812		AGexonicnonsynonymous SNVNM_001025205c.A31Gp.K11E36.0-Woodbury-Smith2022 E
PIK3C2B     111290chr1:
204423884-204423884		TCexonicnonsynonymous SNVNM_002646c.A1979Gp.H660R20.3-Woodbury-Smith2022 E
CAPN15     111308chr16:
596938-596938		GAexonicnonsynonymous SNVNM_005632c.G100Ap.D34N25.92.607E-5Woodbury-Smith2022 E
AQP3     111308chr9:
33442911-33442911		GTexonicnonsynonymous SNVNM_004925c.C431Ap.A144D22.4-Woodbury-Smith2022 E
KCNH6     111290chr17:
61615606-61615606		ACexonicnonsynonymous SNVNM_001278919
NM_001278920
NM_030779
NM_173092		c.A1682C
c.A1313C
c.A1682C
c.A1523C		p.N561T
p.N438T
p.N561T
p.N508T		20.41.653E-5Woodbury-Smith2022 E
THYN1     133341chr11:
134119744-134119744		GAexonicnonsynonymous SNVNM_014174
NM_001037304
NM_001037305
NM_199297
NM_199298		c.C362T
c.C362T
c.C362T
c.C362T
c.C362T		p.P121L
p.P121L
p.P121L
p.P121L
p.P121L		34.0-Woodbury-Smith2022 E
GSTCD     111304chr4:
106755678-106755678		CTexonicnonsynonymous SNVNM_001031720
NM_024751		c.C1591T
c.C1330T		p.R531W
p.R444W		20.4-Woodbury-Smith2022 E
CABIN1     111300chr22:
24462966-24462966		GAexonicnonsynonymous SNVNM_001201429
NM_001199281
NM_012295		c.G1916A
c.G2066A
c.G2066A		p.R639Q
p.R689Q
p.R689Q		36.01.648E-5Woodbury-Smith2022 E
PCDHAC2     133343chr5:
140346584-140346584		GAexonicnonsynonymous SNVNM_018899
NM_031883		c.G233A
c.G233A		p.R78H
p.R78H		31.09.114E-6Woodbury-Smith2022 E
SACS     133350chr13:
23904448-23904448		CTexonicnonsynonymous SNVNM_001278055
NM_014363		c.G13126A
c.G13567A		p.V4376I
p.V4523I		22.8-Woodbury-Smith2022 E
SCN1A     133341chr2:
166856252-166856252		GAexonicnonsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.C4319T
c.C4235T
c.C4286T
c.C4319T		p.A1440V
p.A1412V
p.A1429V
p.A1440V		28.2-Woodbury-Smith2022 E
ACAD9     133343chr3:
128618292-128618292		CTexonicnonsynonymous SNVNM_014049c.C796Tp.R266W20.81.651E-5Woodbury-Smith2022 E
ERN1     133341chr17:
62130664-62130664		GCexonicnonsynonymous SNVNM_001433c.C2021Gp.S674W28.3-Woodbury-Smith2022 E
SOX5     133339chr12:
23687394-23687394		GTexonicnonsynonymous SNVNM_178010
NM_001261415
NM_006940
NM_001261414
NM_152989		c.C893A
c.C2021A
c.C2051A
c.C1688A
c.C2012A		p.A298D
p.A674D
p.A684D
p.A563D
p.A671D		22.1-Woodbury-Smith2022 E
ACTL7A     133339chr9:
111625656-111625656		CTexonicnonsynonymous SNVNM_006687c.C1054Tp.R352W21.08.241E-6Woodbury-Smith2022 E
MAN2A1     111310chr5:
109183455-109183455		TGexonicnonsynonymous SNVNM_002372c.T2940Gp.F980L26.91.0E-4Woodbury-Smith2022 E
NUP205     111309chr7:
135262689-135262689		AGexonicnonsynonymous SNVNM_015135c.A794Gp.D265G22.6-Woodbury-Smith2022 E
SEPT9     111297chr17:
75483592-75483592		GAexonicnonsynonymous SNVNM_001113495
NM_001113496
NM_001293696
NM_001293697
NM_001293698
NM_001113493
NM_001113494
NM_001293695
NM_006640
NM_001113491
NM_001113492		c.G664A
c.G247A
c.G328A
c.G247A
c.G247A
c.G979A
c.G508A
c.G943A
c.G946A
c.G1000A
c.G508A		p.E222K
p.E83K
p.E110K
p.E83K
p.E83K
p.E327K
p.E170K
p.E315K
p.E316K
p.E334K
p.E170K		25.7-Woodbury-Smith2022 E
NSFL1C     111292chr20:
1447400-1447400		GAexonicnonsynonymous SNVNM_016143
NM_018839		c.C70T
c.C70T		p.R24C
p.R24C		26.35.0E-4Woodbury-Smith2022 E
SUPV3L1     111309chr10:
70960062-70960062		CGexonicnonsynonymous SNVNM_003171
NM_001301683		c.C1325G
c.C932G		p.S442C
p.S311C		20.98.244E-6Woodbury-Smith2022 E
NTRK2     111308chr9:
87563494-87563494		CAexonicnonsynonymous SNVNM_001018064
NM_006180		c.C1834A
c.C1882A		p.P612T
p.P628T		29.6-Woodbury-Smith2022 E
GRM1     133350chr6:
146708134-146708134		CTexonicnonsynonymous SNVNM_001278064
NM_001278066
NM_001278067
NM_001278065		c.C1711T
c.C1711T
c.C1711T
c.C1711T		p.P571S
p.P571S
p.P571S
p.P571S		25.4-Woodbury-Smith2022 E
HNRNPM     133343chr19:
8532428-8532428		AGexonicnonsynonymous SNVNM_001297418
NM_005968
NM_031203		c.A434G
c.A794G
c.A677G		p.N145S
p.N265S
p.N226S		23.48.238E-6Woodbury-Smith2022 E
PPP1R27     111290chr17:
79792760-79792760		GAexonicnonsynonymous SNVNM_001007533c.C70Tp.R24C22.08.681E-6Woodbury-Smith2022 E
FBN1     133350chr15:
48712995-48712995		CTexonicnonsynonymous SNVNM_000138c.G7708Ap.E2570K36.0-Woodbury-Smith2022 E
SCO1     133339chr17:
10584536-10584536		GAexonicnonsynonymous SNVNM_004589c.C806Tp.P269L30.0-Woodbury-Smith2022 E
ITGA5     111309chr12:
54795576-54795576		CAexonicnonsynonymous SNVNM_002205c.G2437Tp.D813Y24.12.471E-5Woodbury-Smith2022 E
ZNF292     133344chr6:
87969889-87969889		GTexonicnonsynonymous SNVNM_015021c.G6542Tp.R2181L22.6-Woodbury-Smith2022 E
NUP188     133343chr9:
131765112-131765112		GCexonicnonsynonymous SNVNM_015354c.G4154Cp.R1385P25.5-Woodbury-Smith2022 E
TREML4     133339chr6:
41204305-41204305		GCexonicnonsynonymous SNVNM_198153c.G588Cp.K196N9.2848.247E-6Woodbury-Smith2022 E
KIDINS220     111310chr2:
8871659-8871659		AGexonicnonsynonymous SNVNM_020738c.T4507Cp.F1503L21.24.97E-5Woodbury-Smith2022 E
MACF1     111304chr1:
39900258-39900258		CTexonicnonsynonymous SNVNM_012090c.C11552Tp.P3851L33.01.648E-5Woodbury-Smith2022 E
CLCC1     111299chr1:
109482667-109482667		CGexonicnonsynonymous SNVNM_001278202
NM_001048210
NM_015127		c.G531C
c.G894C
c.G744C		p.K177N
p.K298N
p.K248N		25.58.275E-6Woodbury-Smith2022 E
CAPN15     133350chr16:
603398-603398		GAexonicnonsynonymous SNVNM_005632c.G3143Ap.R1048H27.52.52E-5Woodbury-Smith2022 E
TBC1D15     133339chr12:
72265944-72265944		AGexonicnonsynonymous SNVNM_001146213
NM_022771
NM_001146214		c.A125G
c.A125G
c.A149G		p.E42G
p.E42G
p.E50G		22.88.356E-6Woodbury-Smith2022 E
WDR73     111290chr15:
85188968-85188968		CTexonicnonsynonymous SNVNM_032856c.G617Ap.R206Q27.41.032E-5Woodbury-Smith2022 E
LCORL     111289chr4:
17910885-17910885		AGexonicnonsynonymous SNVNM_001166139
NM_153686		c.T514C
c.T514C		p.Y172H
p.Y172H		22.1-Woodbury-Smith2022 E
FBN1     111300chr15:
48807652-48807652		GAexonicnonsynonymous SNVNM_000138c.C1400Tp.P467L34.0-Woodbury-Smith2022 E
NSMAF     111289chr8:
59536269-59536269		TGexonicnonsynonymous SNVNM_001144772
NM_003580		c.A548C
c.A455C		p.Q183P
p.Q152P		23.48.247E-6Woodbury-Smith2022 E
PSD2     111310chr5:
139218278-139218278		CTexonicnonsynonymous SNVNM_032289c.C1889Tp.P630L23.5-Woodbury-Smith2022 E
SCN10A     111310chr3:
38770146-38770146		AGexonicnonsynonymous SNVNM_001293307
NM_001293306
NM_006514		c.T2233C
c.T2527C
c.T2527C		p.F745L
p.F843L
p.F843L		29.58.24E-6Woodbury-Smith2022 E
VCL     111311chr10:
75865063-75865063		CAexonicnonsynonymous SNVNM_003373
NM_014000		c.C2386A
c.C2386A		p.P796T
p.P796T		24.3-Woodbury-Smith2022 E
PCNT     111308chr21:
47860894-47860894		AGexonicnonsynonymous SNVNM_001315529
NM_006031		c.A8929G
c.A9520G		p.I2977V
p.I3174V		26.3-Woodbury-Smith2022 E
HIF3A     111311chr19:
46815443-46815443		CTexonicnonsynonymous SNVNM_022462
NM_152796
NM_152794
NM_152795		c.C589T
c.C589T
c.C790T
c.C796T		p.P197S
p.P197S
p.P264S
p.P266S		24.16.595E-5Woodbury-Smith2022 E
RCVRN     111311chr17:
9808327-9808327		GTexonicnonsynonymous SNVNM_002903c.C171Ap.F57L22.0-Woodbury-Smith2022 E
INTS1     111299chr7:
1510817-1510817		CTexonicnonsynonymous SNVNM_001080453c.G6299Ap.R2100H37.0-Woodbury-Smith2022 E
MSH5     111299chr6:
31726545-31726545		AGexonicnonsynonymous SNVNM_002441
NM_025259
NM_172165
NM_172166		c.A1219G
c.A1270G
c.A1219G
c.A1219G		p.K407E
p.K424E
p.K407E
p.K407E		31.0-Woodbury-Smith2022 E
KIAA1468     111302chr18:
59931269-59931269		AGexonicnonsynonymous SNVNM_020854c.A2398Gp.I800V24.74.134E-5Woodbury-Smith2022 E
CYB5D2     111302chr17:
4060186-4060186		GAexonicnonsynonymous SNVNM_001254755
NM_001254756
NM_144611		c.G269A
c.G269A
c.G605A		p.G90D
p.G90D
p.G202D		25.4-Woodbury-Smith2022 E
Source Variant Information

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Paper alias:

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Paper Information
Title
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Technology
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Design
URL
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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