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Results for "Krgovic2022"

Variant Events: 53

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
ABCA13     Krgovic2022:025244chr7:
48327673-48327673		CCCexonicUnknownframeshift insertionNM_152701c.8953dupCp.Q2985fs--Krgovic2022 E
ADNP     Krgovic2022:021055chr20:
49509063-49509063		GAexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.C2188T
c.C2188T
c.C2188T
c.C2188T		p.R730X
p.R730X
p.R730X
p.R730X		41.0-Krgovic2022 E
ACTL6B     Krgovic2022:033532chr7:
100245132-100245132		GTexonicUnknownnonsynonymous SNVNM_016188c.C694Ap.P232T17.78-Krgovic2022 E
CYFIP2     Krgovic2022:046526chr5:
156712411-156712411		GAexonicUnknownnonsynonymous SNVNM_001037333
NM_001291721
NM_001291722
NM_014376		c.G40A
c.G40A
c.G40A
c.G40A		p.V14M
p.V14M
p.V14M
p.V14M		33.0-Krgovic2022 E
CSNK1E     Krgovic2022:041619chr22:
38699015-38699015		CAsplicingUnknownsplicing17.69-Krgovic2022 E
DLG2     Krgovic2022:025324chr11:
84822777-84822777		TCexonicDe novosynonymous SNVNM_001142699c.A285Gp.Q95Q-4.097E-5Krgovic2022 E
DNMT3A     Krgovic2022:040054chr2:
25464544-25464544		CTexonicUnknownnonsynonymous SNVNM_153759
NM_022552
NM_175629		c.G1402A
c.G1969A
c.G1969A		p.V468M
p.V657M
p.V657M		22.68.464E-5Krgovic2022 E
ADNP     Krgovic2022:020213chr20:
49508755-49508759		ATTTAAexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.2492_2495del
c.2492_2495del
c.2492_2495del
c.2492_2495del		p.L831fs
p.L831fs
p.L831fs
p.L831fs		--Krgovic2022 E
ADNP     Krgovic2022:027819chr20:
49508182-49508184		TCTTexonicUnknownframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.3067_3068del
c.3067_3068del
c.3067_3068del
c.3067_3068del		p.R1023fs
p.R1023fs
p.R1023fs
p.R1023fs		--Krgovic2022 E
CHD8     Krgovic2022:045750chr14:
21859107-21859107		TCexonicUnknownnonsynonymous SNVNM_001170629
NM_020920		c.A7181G
c.A6344G		p.K2394R
p.K2115R		15.94-Krgovic2022 E
CAMK2B     Krgovic2022:035442chr7:
44294154-44294154		CTexonicUnknownnonsynonymous SNVNM_001220
NM_001293170
NM_172078
NM_172079
NM_172080
NM_172081
NM_172082
NM_172083
NM_172084		c.G328A
c.G328A
c.G328A
c.G328A
c.G328A
c.G328A
c.G328A
c.G328A
c.G328A		p.E110K
p.E110K
p.E110K
p.E110K
p.E110K
p.E110K
p.E110K
p.E110K
p.E110K		26.3-Krgovic2022 E
HECW2     Krgovic2022:039934chr2:
197081790-197081790		CTexonicUnknownnonsynonymous SNVNM_001304840
NM_020760		c.G3368A
c.G4436A		p.R1123Q
p.R1479Q		19.748.521E-6Krgovic2022 E
FBXO11     Krgovic2022:039934chr2:
48059949-48059949		CAexonicUnknownnonsynonymous SNVNM_001190274
NM_025133		c.G1112T
c.G860T		p.S371I
p.S287I		23.9-Krgovic2022 E
GNE     Krgovic2022:035247chr9:
36227333-36227333		TTTexonicUnknownframeshift insertionNM_001190384
NM_001190388
NM_001128227
NM_001190383
NM_005476		c.863dupA
c.1178dupA
c.1286dupA
c.1193dupA
c.1193dupA		p.Q288fs
p.Q393fs
p.Q429fs
p.Q398fs
p.Q398fs		--Krgovic2022 E
HECW2     Krgovic2022:041707chr2:
197084878-197084878		CAsplicingUnknownsplicing26.2-Krgovic2022 E
FGFR2     Krgovic2022:047559chr10:
123278214-123278214		CAexonicPaternalnonsynonymous SNVNM_001144913
NM_001144919
NM_022970		c.G1069T
c.G802T
c.G1069T		p.V357F
p.V268F
p.V357F		22.4-Krgovic2022 E
DYRK1A     Krgovic2022:016930chr21:
38877661-38877662		GCGexonicDe novoframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.1316delC
c.1289delC
c.1316delC
c.1316delC		p.A439fs
p.A430fs
p.A439fs
p.A439fs		--Krgovic2022 E
FOXP2     Krgovic2022:024441chr7:
114299680-114299680		GAexonicUnknownstopgainNM_001172766
NM_014491
NM_148898
NM_148900		c.G1596A
c.G1599A
c.G1674A
c.G1650A		p.W532X
p.W533X
p.W558X
p.W550X		39.0-Krgovic2022 E
FGFR2     Krgovic2022:047560chr10:
123278214-123278214		CAexonicPaternalnonsynonymous SNVNM_001144913
NM_001144919
NM_022970		c.G1069T
c.G802T
c.G1069T		p.V357F
p.V268F
p.V357F		22.4-Krgovic2022 E
GRIN2A     Krgovic2022:016906chr16:
9892161-9892161		GCexonicUnknownnonsynonymous SNVNM_001134407
NM_001134408
NM_000833		c.C2329G
c.C2329G
c.C2329G		p.L777V
p.L777V
p.L777V		14.25-Krgovic2022 E
GRIN2A     Krgovic2022:016906chr16:
9857197-9857197		GAexonicUnknownnonsynonymous SNVNM_001134407
NM_000833		c.C4204T
c.C4204T		p.R1402W
p.R1402W		16.69-Krgovic2022 E
KCNK9     Krgovic2022:019020chr8:
140631234-140631234		CTexonicDe novononsynonymous SNVNM_001282534c.G392Ap.R131H24.0-Krgovic2022 E
IQSEC2     Krgovic2022:027448chrX:
53277315-53277315		GAexonicDe novostopgainNM_001111125
NM_015075		c.C2563T
c.C1948T		p.R855X
p.R650X		39.0-Krgovic2022 E
GRIA4     Krgovic2022:045232chr11:
105732889-105732889		TGexonicUnknownnonsynonymous SNVNM_001112812
NM_000829
NM_001077243
NM_001077244		c.T627G
c.T627G
c.T627G
c.T627G		p.F209L
p.F209L
p.F209L
p.F209L		16.51-Krgovic2022 E
GRIA1     Krgovic2022:045124chr5:
153085300-153085300		GAexonicDe novononsynonymous SNVNM_001258019
NM_000827
NM_001114183
NM_001258021
NM_001258022
NM_001258023
NM_001258020		c.G1256A
c.G1496A
c.G1496A
c.G1526A
c.G1526A
c.G1289A
c.G1211A		p.R419Q
p.R499Q
p.R499Q
p.R509Q
p.R509Q
p.R430Q
p.R404Q		22.0-Krgovic2022 E
GRIN2A     Krgovic2022:018325chr16:
10031841-10031841		CAexonicUnknownstopgainNM_001134407
NM_001134408
NM_000833		c.G982T
c.G982T
c.G982T		p.E328X
p.E328X
p.E328X		28.7-Krgovic2022 E
GRIA4     Krgovic2022:046940chr11:
105775933-105775933		ACexonicUnknownnonsynonymous SNVNM_001112812
NM_000829
NM_001077243
NM_001077244		c.A1064C
c.A1064C
c.A1064C
c.A1064C		p.Q355P
p.Q355P
p.Q355P
p.Q355P		24.74.141E-5Krgovic2022 E
LZTR1     Krgovic2022:029613chr22:
21342349-21342349		GAexonicDe novononsynonymous SNVNM_006767c.G451Ap.D151N35.0-Krgovic2022 E
KMT2C     Krgovic2022:047960chr7:
151856031-151856033		GTGGexonicUnknownframeshift deletionNM_170606c.11585_11586delp.A3862fs--Krgovic2022 E
MAGT1     Krgovic2022:037023chrX:
77112954-77112954		GAexonicMaternalnonsynonymous SNVNM_032121c.C527Tp.A176V29.8-Krgovic2022 E
LZTR1     Krgovic2022:029613chr22:
21348903-21348903		CTexonicMaternalstopgainNM_006767c.C1672Tp.Q558X41.0-Krgovic2022 E
KCNQ5     Krgovic2022:037249chr6:
73787603-73787603		GCexonicUnknownnonsynonymous SNVNM_001160130
NM_001160132
NM_001160133
NM_001160134
NM_019842		c.G911C
c.G911C
c.G911C
c.G911C
c.G911C		p.W304S
p.W304S
p.W304S
p.W304S
p.W304S		26.4-Krgovic2022 E
KCNQ2     Krgovic2022:019450chr20:
62038619-62038619		GAexonicUnknownnonsynonymous SNVNM_004518
NM_172106
NM_172108
NM_172107		c.C1913T
c.C1943T
c.C1904T
c.C1997T		p.P638L
p.P648L
p.P635L
p.P666L		18.249.015E-6Krgovic2022 E
KDM6B     Krgovic2022:040353chr17:
7752805-7752805		GGTCAGexonicDe novoframeshift insertionNM_001080424c.3199_3200insTCAGp.A1067fs--Krgovic2022 E
KDM5A     Krgovic2022:033739chr12:
463318-463318		TCexonicUnknownnonsynonymous SNVNM_001042603c.A953Gp.Y318C25.49.938E-5Krgovic2022 E
RAI1     Krgovic2022:035820chr17:
17698115-17698116		TCTexonicDe novoframeshift deletionNM_030665c.1854delCp.I618fs--Krgovic2022 E
PPP2R5D     Krgovic2022:038924chr6:
42975704-42975704		GAexonicUnknownnonsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.G440A
c.G305A
c.G758A
c.G662A		p.R147Q
p.R102Q
p.R253Q
p.R221Q		35.0-Krgovic2022 E
SCN8A     Krgovic2022:018960chr12:
52056657-52056658		CTCexonicUnknownframeshift deletionNM_001177984
NM_014191		c.57delT
c.57delT		p.P19fs
p.P19fs		--Krgovic2022 E
RPS6KA3     Krgovic2022:036247chrX:
20183150-20183150		TCexonicUnknownnonsynonymous SNVNM_004586c.A1631Gp.N544S22.7-Krgovic2022 E
NR4A2     Krgovic2022:018653chr2:
157186128-157186128		GAexonicDe novostopgainNM_006186c.C571Tp.Q191X24.2-Krgovic2022 E
MECP2     Krgovic2022:033763chrX:
153296354-153296354		GAexonicDe novononsynonymous SNVNM_001110792
NM_004992
NM_001316337		c.C961T
c.C925T
c.C646T		p.R321W
p.R309W
p.R216W		15.93-Krgovic2022 E
PPP2R5D     Krgovic2022:022629chr6:
42975003-42975003		GAexonicDe novononsynonymous SNVNM_180977
NM_001270476
NM_006245
NM_180976		c.G274A
c.G139A
c.G592A
c.G496A		p.E92K
p.E47K
p.E198K
p.E166K		36.0-Krgovic2022 E
NRXN3     Krgovic2022:027329chr14:
79175983-79175983		CTexonicMaternalstopgainNM_004796c.C526Tp.R176X39.0-Krgovic2022 E
TBL1XR1     Krgovic2022:022941chr3:
176769415-176769417		TATTexonicUnknownframeshift deletionNM_024665c.302_303delp.D101fs--Krgovic2022 E
TBL1XR1     Krgovic2022:022940chr3:
176769415-176769417		TATTexonicUnknownframeshift deletionNM_024665c.302_303delp.D101fs--Krgovic2022 E
TM4SF20     Krgovic2022:040110chr2:
228235698-228235698		TAsplicingUnknownsplicing11.932.471E-5Krgovic2022 E
TBL1XR1     Krgovic2022:040139chr3:
176752053-176752053		AGexonicDe novononsynonymous SNVNM_024665c.T1183Cp.Y395H26.0-Krgovic2022 E
SLC2A1     Krgovic2022:034742chr1:
43395556-43395556		GAexonicUnknownnonsynonymous SNVNM_006516c.C667Tp.R223W19.21-Krgovic2022 E
SIN3B     Krgovic2022:027720chr19:
16977308-16977308		GAexonicDe novononsynonymous SNVNM_001297597
NM_001297595
NM_015260		c.G517A
c.G1747A
c.G1843A		p.D173N
p.D583N
p.D615N		34.0-Krgovic2022 E
STAG1     Krgovic2022:019146chr3:
136085798-136085798		TGexonicUnknownnonsynonymous SNVNM_005862c.A2672Cp.K891T25.0-Krgovic2022 E
SOS2     Krgovic2022:023509chr14:
50649248-50649248		GTexonicDe novononsynonymous SNVNM_006939c.C791Ap.T264K31.0-Krgovic2022 E
TRIP12     Krgovic2022:011139chr2:
230650529-230650529		CCCexonicDe novoframeshift insertionNM_001284216
NM_001284215
NM_004238
NM_001284214		c.4003dupG
c.4912dupG
c.4813dupG
c.4957dupG		p.V1335fs
p.V1638fs
p.V1605fs
p.V1653fs		--Krgovic2022 E
KRAS     Krgovic2022:040110chr12:
25378597-25378597		GCexonicMaternalnonsynonymous SNVNM_004985
NM_033360		c.C401G
c.C401G		p.A134G
p.A134G		21.7-Krgovic2022 E
Source Variant Information

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Source:

Paper alias:

No records found.
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
Curation notesView
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