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Results for "Dong2014"

Variant Events: 95

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
LMTK3     13092.p1chr19:
49004780-49004780		CCAGGTCAGexonicDe novostopgainNM_001080434c.920_921insCTGACCTp.L307_T308delinsLX--Dong2014 E
DIP2A     13012.p1chr21:
47958429-47958429		AACTGGTCTexonicDe novoframeshift insertionNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891		c.1706_1707insCTGGTCT
c.1823_1824insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT		p.H569fs
p.H608fs
p.H612fs
p.H612fs
p.H612fs
p.H612fs		--Dong2014 E
ATP10D     13616.p1chr4:
47571000-47571000		TTGexonicDe novoframeshift insertionNM_020453c.3001dupGp.T1000fs--Dong2014 E
SETD2     12565.p1chr3:
47098932-47098933		ATAexonicDe novoframeshift deletionNM_014159c.6341delAp.N2114fs--Dong2014 E
SLC25A39     12939.p1chr17:
42399123-42399125		TCATexonicDe novoframeshift deletionNM_001143780
NM_016016		c.335_336del
c.311_312del		p.V112fs
p.V104fs		--Dong2014 E
HIVEP3     11940.p1chr1:
42048715-42048715		CCGexonicDe novoframeshift insertionNM_001127714
NM_024503		c.1753dupC
c.1753dupC		p.R585fs
p.R585fs		--Dong2014 E
PRKAA1     13073.p1chr5:
40775591-40775591		CCTGAexonicDe novononframeshift insertionNM_006251
NM_206907		c.283_284insTCA
c.283_284insTCA		p.S95delinsIS
p.S95delinsIS		--Dong2014 E
TNRC6B     12673.p1chr22:
40661586-40661590		AAGAGAexonicDe novoframeshift deletionNM_001162501
NM_015088		c.1353_1356del
c.1353_1356del		p.K451fs
p.K451fs		--Dong2014 E
PLCG1     13515.p1chr20:
39791805-39791805		GGTintronicDe novo--Dong2014 E
DYRK1A     13552.p1chr21:
38877833-38877834		GCGexonicDe novoframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.1488delC
c.1461delC
c.1488delC
c.1488delC		p.S496fs
p.S487fs
p.S496fs
p.S496fs		--Dong2014 E
DYRK1A     12099.p1chr21:
38845116-38845118		CATCexonicDe novoframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.142_143del
c.142_143del
c.142_143del
c.142_143del		p.I48fs
p.I48fs
p.I48fs
p.I48fs		--Dong2014 E
BRF2     13618.p1chr8:
37702145-37702147		CAGCexonicDe novoframeshift deletionNM_018310c.1121_1122delp.P374fs-6.595E-5Dong2014 E
ELMO1     11316.p1chr7:
37355576-37355576		CCAintronicDe novo-8.332E-6Dong2014 E
PAX5     12858.p1chr9:
37015070-37015071		AGGexonicDe novoframeshift deletionNM_001280551
NM_001280556
NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_016734		c.10delT
c.10delT
c.334delT
c.334delT
c.334delT
c.334delT
c.334delT
c.334delT
c.334delT
c.334delT		p.W4fs
p.W4fs
p.W112fs
p.W112fs
p.W112fs
p.W112fs
p.W112fs
p.W112fs
p.W112fs
p.W112fs		--Dong2014 E
VCP     13646.p1chr9:
35060455-35060460		TAGAACTexonicDe novoframeshift deletionNM_007126c.1545_1549delp.L515fs--Dong2014 E
SYNGAP1     13073.p1chr6:
33408650-33408652		CTTCexonicDe novoframeshift deletionNM_006772c.1822_1823delp.F608fs--Dong2014 E
HECTD1     12787.p1chr14:
31641107-31641110		AATGAexonicDe novononframeshift deletionNM_015382c.1289_1291delp.430_431del--Dong2014 E
NFKBIL1     11808.p1chr6:
31525439-31525439		CCTGexonicDe novoframeshift insertionNM_001144961
NM_001144962
NM_001144963
NM_005007		c.369_370insTG
c.300_301insTG
c.300_301insTG
c.369_370insTG		p.R123fs
p.R100fs
p.R100fs
p.R123fs		--Dong2014 E
NF1     11108.p1chr17:
29676099-29676103		TCTTATintronicDe novo-4.137E-5Dong2014 E
SSH2     12303.p1chr17:
27982695-27982698		GAGAGintronicDe novo--Dong2014 E
SPATA13         12652.p1chr13:
24797447-24797448		GCGexonicDe novoframeshift deletionNM_001166271
NM_001286792		c.381delC
c.567delC		p.S127fs
p.S189fs		--Dong2014 E
PRMT5-AS1     13307.p1chr14:
23392075-23392076		TGTncRNA_intronicDe novo--Dong2014 E
CHD8     12752.p1chr14:
21861376-21861378		ACTAexonicDe novoframeshift deletionNM_001170629
NM_020920		c.6355_6356del
c.5518_5519del		p.S2119fs
p.S1840fs		--Dong2014 E
FAM83G     13188.p1chr17:
18874685-18874685		CCGGTexonicDe novononframeshift insertionNM_001039999c.2458_2459insACCp.R820delinsHR-0.6077Dong2014 E
STAM     14147.p1chr10:
17738824-17738825		CTCexonicDe novoframeshift deletionNM_003473c.780delTp.P260fs--Dong2014 E
CTRC     11057.p1chr1:
15765077-15765078		TGTintronicDe novo--Dong2014 E
BRD4     12733.p1chr19:
15376362-15376365		CAGGCexonicDe novononframeshift deletionNM_014299
NM_058243		c.649_651del
c.649_651del		p.217_217del
p.217_217del		-8.238E-6Dong2014 E
DNAH5     11610.p1chr5:
13923403-13923404		CACexonicDe novoframeshift deletionNM_001369c.423delTp.P141fs--Dong2014 E
RAF1     13608.p1chr3:
12628988-12629003		GATATCCCCTGGCACCGintronicDe novo--Dong2014 E
ELAVL3     11622.p1chr19:
11576905-11576909		GGGGCGintronicDe novo--Dong2014 E
GALNT18     13548.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_198516
NM_198516		c.1566_1573del
c.1563delC		p.T522fs
p.P521fs		--Dong2014 E
Dong2014 E
MYH10     13000.p1chr17:
8424204-8424205		GAGexonicDe novoframeshift deletionNM_005964
NM_001256095
NM_001256012		c.2171delT
c.2198delT
c.2264delT		p.F724fs
p.F733fs
p.F755fs		--Dong2014 E
MEGF6     14075.p1chr1:
3519049-3519050		ACAexonicDe novoframeshift deletionNM_001409c.246delGp.W82fs--Dong2014 E
AMZ1     13322.p1chr7:
2748240-2748243		TGAATexonicDe novononframeshift deletionNM_001284355
NM_133463		c.492_494del
c.492_494del		p.164_165del
p.164_165del		-5.0E-4Dong2014 E
DIP2C     12705.p1chr10:
428608-428608		GGCexonicDe novoframeshift insertionNM_014974c.1969dupGp.A657fs--Dong2014 E
TRIM17     13586.p1chr1:
228596934-228596934		TTGexonicDe novoframeshift insertionNM_001024940
NM_001134855
NM_016102		c.821dupC
c.821dupC
c.821dupC		p.P274fs
p.P274fs
p.P274fs		-4.0E-4Dong2014 E
UBR3     12161.p1chr2:
170732427-170732429		CAACexonicDe novoframeshift deletionNM_172070c.813_814delp.T271fs--Dong2014 E
ARHGAP30     13628.p1chr1:
161023096-161023099		ACTCAexonicDe novononframeshift deletionNM_001287602
NM_001287600
NM_001025598
NM_181720		c.82_84del
c.169_171del
c.613_615del
c.613_615del		p.28_28del
p.57_57del
p.205_205del
p.205_205del		--Dong2014 E
C8orf31     13012.p1chr8:
144126055-144126056		TCTintronicDe novo--Dong2014 E
PCDHA13     12773.p1chr5:
140263886-140263890		CTTCGCexonicDe novoframeshift deletionNM_018904
NM_031865		c.2034_2037del
c.2034_2037del		p.A678fs
p.A678fs		--Dong2014 E
PCOLCE     13018.p1chr7:
100201679-100201680		CTCexonicDe novoframeshift deletionNM_002593c.303delTp.S101fs--Dong2014 E
TSPYL5     13195.p1chr8:
98289514-98289517		CCTTCexonicDe novononframeshift deletionNM_033512c.556_558delp.186_186del--Dong2014 E
PARP6     13038.p1chr15:
72535063-72535068		CTTCATCintronicDe novo--Dong2014 E
PTGER3     12501.p1chr1:
71439935-71439935		CCGintronicDe novo--Dong2014 E
USP15     12521.p1chr12:
62775296-62775300		CTGAGCexonicDe novoframeshift deletionNM_006313
NM_001252078		c.855_858del
c.942_945del		p.T285fs
p.T314fs		--Dong2014 E
ASAH2     11715.p1chr10:
52005130-52005130		TTGexonicDe novoframeshift insertionNM_001143974
NM_019893		c.211dupC
c.211dupC		p.Q71fs
p.Q71fs		--Dong2014 E
MORC3     14310.p1chr21:
37744772-37744774		CAGCexonicDe novoframeshift deletionNM_015358c.2610_2611delp.T870fs--Dong2014 E
KDM6B     12683.p1chr17:
7749921-7749922		CGCexonicDe novoframeshift deletionNM_001080424c.575delGp.R192fs--Dong2014 E
BRSK2     13415.p1chr11:
1466811-1466814		GAGAGexonicDe novononframeshift deletionNM_001256627
NM_001256629
NM_001256630
NM_001282218
NM_003957		c.989_991del
c.989_991del
c.1127_1129del
c.809_811del
c.989_991del		p.330_331del
p.330_331del
p.376_377del
p.270_271del
p.330_331del		--Dong2014 E
CDC23     13809.p1chr5:
137534408-137534410		CTGCexonicDe novoframeshift deletionNM_004661c.716_717delp.T239fs--Dong2014 E
PDCD1     11707.p1chr2:
242795103-242795104		TGTexonicDe novoframeshift deletionNM_005018c.105delCp.P35fs--Dong2014 E
PCYT1A     13922.p1chr3:
195966607-195966611		CTAGACsplicingDe novosplicing-8.299E-6Dong2014 E
TROVE2     12826.p1chr1:
193045125-193045129		ATTAGAexonicDe novoframeshift deletionNM_001042369
NM_001042370
NM_001173524
NM_001173525
NM_004600		c.757_760del
c.757_760del
c.757_760del
c.757_760del
c.757_760del		p.L253fs
p.L253fs
p.L253fs
p.L253fs
p.L253fs		--Dong2014 E
DVL3     11242.p1chr3:
183887912-183887912		GGTexonicDe novoframeshift insertionNM_004423c.1618dupTp.Q539fs--Dong2014 E
DLL1     12653.p1chr6:
170593075-170593075		CCAexonicDe novoframeshift insertionNM_005618c.1291dupTp.C431fs--Dong2014 E
TBR1     13796.p1chr2:
162275481-162275481		AACexonicDe novoframeshift insertionNM_006593c.1049dupCp.T350fs--Dong2014 E
TBR1     11480.p1chr2:
162273322-162273323		ACAexonicDe novoframeshift deletionNM_006593c.402delCp.H134fs--Dong2014 E
ARID1B     13447.p1chr6:
157527664-157527668		CTGTTCexonicDe novoframeshift deletionNM_017519
NM_020732		c.5351_5354del
c.5390_5393del		p.L1784fs
p.L1797fs		--Dong2014 E
ASH1L     11282.p1chr1:
155317482-155317482		CCCTTGexonicDe novoframeshift insertionNM_018489c.7767_7768insCAAGp.D2590fs--Dong2014 E
L1CAM     13739.p1chrX:
153135038-153135040		TCATexonicDe novoframeshift deletionNM_001143963
NM_000425
NM_024003
NM_001278116		c.1187_1188del
c.1202_1203del
c.1202_1203del
c.1202_1203del		p.V396fs
p.V401fs
p.V401fs
p.V401fs		--Dong2014 E
POGZ     13398.p1chr1:
151377903-151377903		TTCGTCATCAexonicDe novoframeshift insertionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.3322_3323insTGATGACG
c.3448_3449insTGATGACG
c.3421_3422insTGATGACG
c.3580_3581insTGATGACG
c.3607_3608insTGATGACG		p.E1108fs
p.E1150fs
p.E1141fs
p.E1194fs
p.E1203fs		--Dong2014 E
GIMAP8     13096.p1chr7:
150164231-150164232		GAGexonicDe novoframeshift deletionNM_175571c.446delAp.E149fs--Dong2014 E
MBD5     12346.p1chr2:
149225965-149225967		GTCGexonicDe novoframeshift deletionNM_018328c.454_455delp.S152fs--Dong2014 E
PHACTR2     11336.p1chr6:
144033170-144033173		GCTTGexonicDe novononframeshift deletionNM_001100164
NM_001100165
NM_001100166
NM_014721		c.65_67del
c.65_67del
c.32_34del
c.32_34del		p.22_23del
p.22_23del
p.11_12del
p.11_12del		--Dong2014 E
DENND3     12317.p1chr8:
142200355-142200355		GGGTintronicDe novo-9.0E-4Dong2014 E
HARS2     12953.p1chr5:
140076709-140076710		CGCintronicDe novo--Dong2014 E
MSL2     12948.p1chr3:
135871025-135871029		TCAGATexonicDe novoframeshift deletionNM_001145417
NM_018133		c.472_475del
c.694_697del		p.S158fs
p.S232fs		--Dong2014 E
BUB3     13187.p1chr10:
124923291-124923292		GCGintronicDe novo--Dong2014 E
MFRP     13168.p1chr11:
119214624-119214625		CTCexonicDe novoframeshift deletionNM_031433c.1025delAp.Q342fs--Dong2014 E
CTTNBP2     13070.p1chr7:
117423007-117423009		TCATexonicDe novoframeshift deletionNM_033427c.2279_2280delp.V760fs--Dong2014 E
ACACB     13585.p1chr12:
109577549-109577549		AAGexonicDe novoframeshift insertionNM_001093c.340dupGp.P113fs--Dong2014 E
KMT2E     14299.p1chr7:
104702706-104702707		ACAexonicDe novostopgainNM_018682
NM_182931		c.168delC
c.168delC		p.Y56X
p.Y56X		--Dong2014 E
PHF2     12323.p1chr9:
96439929-96439930		ATAexonicDe novoframeshift deletionNM_005392c.3263delTp.I1088fs--Dong2014 E
CHD2     13618.p1chr15:
93524060-93524064		TAAAGTexonicDe novoframeshift deletionNM_001271c.2893_2896delp.K965fs--Dong2014 E
ANKRD11     12507.p1chr16:
89350771-89350775		CTTTGCexonicDe novoframeshift deletionNM_001256183
NM_013275
NM_001256182		c.2175_2178del
c.2175_2178del
c.2175_2178del		p.N725fs
p.N725fs
p.N725fs		--Dong2014 E
GRM5     12529.p1chr11:
88300812-88300815		ATCTAexonicDe novononframeshift deletionNM_001143831
NM_000842		c.2036_2038del
c.2036_2038del		p.679_680del
p.679_680del		--Dong2014 E
MTHFS     13590.p1chr15:
80137553-80137553		TTAexonicDe novostoplossNM_001199758
NM_006441
NM_001199760		c.439dupT
c.610dupT
c.538dupT		p.X147delinsL
p.X204delinsL
p.X180delinsL		--Dong2014 E
SNW1     11892.p1chr14:
78227470-78227479		TCTTCTTCCGTUTR5De novo--Dong2014 E
CD109     11336.p1chr6:
74440138-74440147		CTCTAATAGTCexonicDe novononframeshift deletionNM_001159587
NM_133493		c.349_357del
c.349_357del		p.117_119del
p.117_119del		--Dong2014 E
RIMS1     13497.p1chr6:
73102488-73102488		CCAexonicDe novoframeshift insertionNM_001168411
NM_001168408
NM_001168409
NM_001168410
NM_001168407
NM_014989		c.176dupA
c.1970dupA
c.1799dupA
c.1997dupA
c.2555dupA
c.4595dupA		p.Q59fs
p.Q657fs
p.Q600fs
p.Q666fs
p.Q852fs
p.Q1532fs		--Dong2014 E
RIMS1     13162.p1chr6:
72889391-72889391		TTAexonicDe novoframeshift insertionNM_014989c.586dupAp.D195fs--Dong2014 E
KCNMB4     14108.p1chr12:
70824293-70824296		CATGCexonicDe novononframeshift deletionNM_014505c.494_496delp.165_166del--Dong2014 E
ZFYVE26     13176.p1chr14:
68272014-68272015		GCGexonicDe novoframeshift deletionNM_015346c.1190delGp.G397fs--Dong2014 E
PHF3     14133.p1chr6:
64413433-64413435		CCGCexonicDe novoframeshift deletionNM_015153
NM_001290259		c.3240_3241del
c.2976_2977del		p.A1080fs
p.A992fs		--Dong2014 E
KCNQ2     11075.p1chr20:
62070073-62070099		CCTGCAATTCATCAGGGTCAGGTCACACsplicingDe novosplicing--Dong2014 E
MED13     12235.p1chr17:
60060310-60060319		AGGAGTCCTTAexonicDe novononframeshift deletionNM_005121c.3045_3053delp.1015_1018del-1.657E-5Dong2014 E
ZNF772     13642.p1chr19:
57986982-57986982		GGGGCAintronicDe novo--Dong2014 E
DST     13612.p1chr6:
56393643-56393647		GGTTTGexonicDe novoframeshift deletionNM_015548
NM_183380
NM_001144770
NM_001144769		c.9803_9806del
c.10781_10784del
c.10901_10904del
c.11315_11318del		p.Q3268fs
p.Q3594fs
p.Q3634fs
p.Q3772fs		--Dong2014 E
SUMF2     13507.p1chr7:
56144465-56144466		CTCintronicDe novo--Dong2014 E
CNOT3     12444.p1chr19:
54656675-54656677		CTGCexonicDe novoframeshift deletionNM_014516c.1977_1978delp.T659fs--Dong2014 E
CSTF2T     13439.p1chr10:
53458249-53458249		TTAexonicDe novoframeshift insertionNM_015235c.1060dupTp.Y354fs--Dong2014 E
SCP2     11712.p1chr1:
53416506-53416508		CTGCexonicDe novoframeshift deletionNM_001193599
NM_001193617
NM_002979		c.208_209del
c.37_38del
c.280_281del		p.C70fs
p.C13fs
p.C94fs		--Dong2014 E
PHF7     12383.p1chr3:
52454424-52454425		GCGexonicDe novoframeshift deletionNM_001278221
NM_016483		c.387delC
c.387delC		p.C129fs
p.C129fs		--Dong2014 E
ADNP     12130.p1chr20:
49510027-49510029		CTTCexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1222_1223del
c.1222_1223del
c.1222_1223del
c.1222_1223del		p.K408fs
p.K408fs
p.K408fs
p.K408fs		--Dong2014 E
SPAG9     14165.p1chr17:
49072429-49072434		GATCTAGexonicDe novoframeshift deletionNM_001251971
NM_003971
NM_001130527
NM_001130528		c.1739_1743del
c.2168_2172del
c.2180_2184del
c.2210_2214del		p.L580fs
p.L723fs
p.L727fs
p.L737fs		--Dong2014 E
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
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.
Variant event count
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