or
or
Exact

Results for "KMT2C"

Variant Events: 206

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
KMT2C     PN400587chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     Uddin2014:46chr7:
151842339-151842339		GTexonicDe novostopgainNM_170606c.C14073Ap.Y4691X55.01.65E-5Uddin2014 E
KMT2C     PN400284chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     PN400587chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     PN400523chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     PN400523chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     PN400284chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     PN400498chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     09C80254chr7:
151868465-151868465		GAintronicDe novo-7.829E-5Satterstrom2020 E
Trost2022 G
KMT2C     AU4234302chr7:
152046129-152046129		GCintronicDe novo--Trost2022 G
Yuen2017 G
KMT2C     09C90854chr7:
151868351-151868351		GAexonicInheritedstopgainNM_170606c.C9451Tp.Q3151X51.0-Stessman2017 T
KMT2C     AU009503chr7:
151891590-151891590		CTexonicUnknownnonsynonymous SNVNM_170606c.G4442Ap.R1481Q24.81.648E-5Stessman2017 T
KMT2C     PN400367chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     PN400524chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     PN400551chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     PN400171chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     PN400551chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     PN400325chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     M08110chr7:
151859603-151859603		TCexonicMaternalnonsynonymous SNVNM_170606c.A11059Gp.S3687G9.227-Guo2018 T
KMT2C     PN400412chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     M08383chr7:
151859588-151859588		CTexonicMaternalnonsynonymous SNVNM_170606c.G11074Ap.A3692T11.754.942E-5Guo2018 T
KMT2C     M23206chr7:
151860392-151860392		CTexonicMaternalnonsynonymous SNVNM_170606c.G10270Ap.A3424T20.47.413E-5Guo2018 T
KMT2C     M19805chr7:
151859998-151859998		GCexonicMaternalnonsynonymous SNVNM_170606c.C10664Gp.P3555R14.988.239E-6Guo2018 T
KMT2C     1-0447-003chr7:
151955583-151955624		TTTGTTGTTGTTGTTGTTGTTGCTGTTGTTGTTGTTGTTGTTTTTGTTGTTGTTGTTGTTGCTGTTGTTGTTGTTGTTGTTintronicDe novo--Yuen2017 G
KMT2C     M13373chr7:
151846011-151846011		CTexonicMaternalnonsynonymous SNVNM_170606c.G13001Ap.R4334Q19.672.541E-5Guo2018 T
KMT2C     M01833chr7:
151845498-151845498		AGexonicMaternalnonsynonymous SNVNM_170606c.T13514Cp.M4505T11.388.237E-6Guo2018 T
KMT2C     PN400412chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     M20406chr7:
151848538-151848538		GCexonicMaternalnonsynonymous SNVNM_170606c.C12655Gp.L4219V0.280.0031Guo2018 T
KMT2C     M08572chr7:
151846069-151846069		CTexonicMaternalnonsynonymous SNVNM_170606c.G12943Ap.A4315T14.64-Guo2018 T
KMT2C     M21923chr7:
151874719-151874719		GAexonicMaternalnonsynonymous SNVNM_170606c.C7819Tp.P2607S3.856-Guo2018 T
KMT2C     M03443chr7:
151874542-151874542		CTexonicMaternalnonsynonymous SNVNM_170606c.G7996Ap.V2666I2.773-Guo2018 T
KMT2C     M13304chr7:
151874769-151874769		TCexonicMaternalnonsynonymous SNVNM_170606c.A7769Gp.H2590R12.89-Guo2018 T
KMT2C     M23149chr7:
151874749-151874749		GCexonicMaternalnonsynonymous SNVNM_170606c.C7789Gp.P2597A9.599-Guo2018 T
KMT2C     M20652chr7:
151873443-151873443		AGexonicMaternalnonsynonymous SNVNM_170606c.T9095Cp.M3032T7.6968.237E-6Guo2018 T
KMT2C     M21301chr7:
151864383-151864383		CTexonicMaternalnonsynonymous SNVNM_170606c.G9598Ap.E3200K20.51.648E-5Guo2018 T
KMT2C     M26740chr7:
151873605-151873605		CGexonicMaternalnonsynonymous SNVNM_170606c.G8933Cp.R2978T13.38-Guo2018 T
KMT2C     M12350chr7:
151873462-151873462		AGexonicMaternalnonsynonymous SNVNM_170606c.T9076Cp.S3026P6.461-Guo2018 T
KMT2C     M08473chr7:
151879084-151879084		GCexonicMaternalnonsynonymous SNVNM_170606c.C5861Gp.S1954C11.821.0E-4Guo2018 T
KMT2C     M15234chr7:
151879084-151879084		GCexonicMaternalnonsynonymous SNVNM_170606c.C5861Gp.S1954C11.821.0E-4Guo2018 T
KMT2C     M23076chr7:
151879262-151879262		TCexonicMaternalnonsynonymous SNVNM_170606c.A5683Gp.M1895V6.416.0E-4Guo2018 T
KMT2C     M27877chr7:
151879132-151879132		AGexonicMaternalnonsynonymous SNVNM_170606c.T5813Cp.M1938T0.16-Guo2018 T
KMT2C     M19761chr7:
151876975-151876975		CAexonicMaternalnonsynonymous SNVNM_170606c.G7386Tp.Q2462H13.81.647E-5Guo2018 T
KMT2C     11148.p1chr7:
151842339-151842339		GTexonicDe novostopgainNM_170606c.C14073Ap.Y4691X55.01.65E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Willsey2013 E
Zhou2022 GE
KMT2C     M20740chr7:
151874940-151874940		TCexonicMaternalnonsynonymous SNVNM_170606c.A7598Gp.N2533S9.869-Guo2018 T
KMT2C     12742.p1chr7:
151845714-151845714		GAexonicDe novononsynonymous SNVNM_170606c.C13298Tp.A4433V20.1-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
KMT2C     M21549chr7:
151878905-151878905		CC/TexonicMaternal--Guo2018 T
KMT2C     11241.p1chr7:
151927315-151927315		GAexonicDe novononsynonymous SNVNM_170606c.C2861Tp.T954I15.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KMT2C     AU1067302chr7:
151856028-151856028		GAexonicUnknownnonsynonymous SNVNM_170606c.C11590Tp.R3864C19.711.647E-5Stessman2017 T
KMT2C     M03593chr7:
151877190-151877190		TGexonicMaternalnonsynonymous SNVNM_170606c.A7171Cp.I2391L19.64.119E-5Guo2018 T
KMT2C     M19714chr7:
151947971-151947971		CGexonicMaternalnonsynonymous SNVNM_170606c.G1702Cp.G568R10.511.65E-5Guo2018 T
KMT2C     M18917chr7:
151896394-151896394		AGexonicMaternalnonsynonymous SNVNM_170606c.T4243Cp.S1415P13.53-Guo2018 T
KMT2C     SSC05690chr7:
151845714-151845714		GAexonicDe novononsynonymous SNVNM_170606c.C13298Tp.A4433V20.1-Fu2022 E
Lim2017 E
Trost2022 G
KMT2C     PN400262chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     M13338chr7:
152012244-152012244		CTexonicMaternalnonsynonymous SNVNM_170606c.G569Ap.R190Q14.74-Guo2018 T
KMT2C     PN400262chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     M08611chr7:
151949694-151949694		ACexonicMaternalnonsynonymous SNVNM_170606c.T1406Gp.F469C17.168.3E-6Guo2018 T
KMT2C     M01763chr7:
151879404-151879404		ACexonicMaternalnonsynonymous SNVNM_170606c.T5541Gp.F1847L14.33-Guo2018 T
KMT2C     M21743chr7:
151879270-151879270		GAexonicMaternalnonsynonymous SNVNM_170606c.C5675Tp.P1892L8.577-Guo2018 T
KMT2C     M11415chr7:
151891184-151891184		AGexonicMaternalnonsynonymous SNVNM_170606c.T4570Cp.F1524L22.72.585E-5Guo2018 T
KMT2C     M13428chr7:
151880153-151880153		CAexonicMaternalnonsynonymous SNVNM_170606c.G5171Tp.S1724I14.119.884E-5Guo2018 T
KMT2C     AU076705chr7:
151858794-151858794		TAintronicDe novo--Trost2022 G
Yuen2017 G
KMT2C     PN400528chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     AU005023chr7:
151921255-151921255		CTexonicDe novostopgainNM_170606c.G3168Ap.W1056X40.0-Lim2017 E
KMT2C     PN400528chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     More2023:19chr7:
151932996-151932996		CTexonicInheritednonsynonymous SNVNM_170606c.G2675Ap.G892E21.74.0E-4More2023 G
KMT2C     PN400477chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     PN400477chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     1-0715-003chr7:
151974027-151974041		TAACAACAACAACAATAACAACAACAAintronicDe novo--Yuen2017 G
KMT2C     AU1885302chr7:
151949146-151949147		GTTexonicInheritedframeshift deletionNM_170606c.1499delCp.T500fs--Stessman2017 T
KMT2C     GX0306.p1chr7:
151859998-151859998		GCexonicPaternalnonsynonymous SNVNM_170606c.C10664Gp.P3555R14.988.239E-6Guo2018 T
KMT2C     PN400179chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     GX0489.p1chr7:
151851183-151851183		TGexonicPaternalnonsynonymous SNVNM_170606c.A12188Cp.Y4063S11.15-Guo2018 T
KMT2C     GX0344.p1chr7:
151874358-151874358		CTexonicPaternalnonsynonymous SNVNM_170606c.G8180Ap.G2727D16.24-Guo2018 T
KMT2C     GX0326.p1chr7:
151873443-151873443		AGexonicPaternalnonsynonymous SNVNM_170606c.T9095Cp.M3032T7.6968.237E-6Guo2018 T
KMT2C     PN400179chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     GX0469.p1chr7:
151846191-151846191		GAexonicPaternalnonsynonymous SNVNM_170606c.C12821Tp.S4274F12.51-Guo2018 T
KMT2C     GX0177.p1chr7:
151845382-151845382		GAexonicPaternalnonsynonymous SNVNM_170606c.C13630Tp.R4544W14.148.238E-6Guo2018 T
KMT2C     GX0301.p1chr7:
151874907-151874907		TCexonicPaternalnonsynonymous SNVNM_170606c.A7631Gp.Q2544R7.5258.241E-6Guo2018 T
KMT2C     M30343chr7:
151874425-151874425		CGexonicPaternalnonsynonymous SNVNM_170606c.G8113Cp.E2705Q18.07-Guo2018 T
KMT2C     1-0755-003chr7:
151974027-151974041		TAACAACAACAACAATAACAACAACAAintronicDe novo--Yuen2017 G
KMT2C     GX0003.p1chr7:
151947971-151947971		CTexonicPaternalnonsynonymous SNVNM_170606c.G1702Ap.G568S9.8153.299E-5Guo2018 T
KMT2C     PN400480chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     AU051504chr7:
151895049-151895049		TCintronicDe novo--Trost2022 G
Yuen2017 G
KMT2C     SP0117786chr7:
151845813-151845813		CTexonicDe novononsynonymous SNVNM_170606c.G13199Ap.R4400Q21.1-Trost2022 G
Zhou2022 GE
KMT2C     PN400480chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     SP0190586chr7:
151835928-151835928		GAexonicDe novononsynonymous SNVNM_170606c.C14596Tp.H4866Y16.28-Trost2022 G
Zhou2022 GE
KMT2C     SP0167673chr7:
151896469-151896469		CTexonicnonsynonymous SNVNM_170606c.G4168Ap.G1390R10.66-Zhou2022 GE
KMT2C     AU070703 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
KMT2C     SP0155911chr7:
151879601-151879601		GAexonicDe novostopgainNM_170606c.C5344Tp.Q1782X47.0-Trost2022 G
Zhou2022 GE
KMT2C     1-0485-003chr7:
151941952-151941958		TCTCACTTCTintronicDe novo--Yuen2017 G
KMT2C     PN400266chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     PN400505chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     PN400505chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     PN400560chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     PN400560chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     PN400532chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     PN400532chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     2-1506-003chr7:
152087864-152087878		TACACACACACACACTACACACACACACintronicDe novo--Yuen2017 G
KMT2C     PN400484chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     PN400484chr7:
151836324-151836324		GTexonicUnknownnonsynonymous SNVNM_170606c.C14481Ap.F4827L21.0-Leblond2019 E
KMT2C     SP0087001chr7:
151868428-151868428		CTsplicingDe novosplicing15.63-Fu2022 E
Zhou2022 GE
KMT2C     SP0005799chr7:
151874147-151874147		CCTexonicDe novoframeshift insertionNM_170606c.8390dupAp.K2797fs-8.468E-5Fu2022 E
KMT2C     PN400533chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     SP0007582chr7:
151843675-151843675		GAintronicDe novo--Fu2022 E
Trost2022 G
KMT2C     SP0043054chr7:
151833896-151833896		TGUTR3De novo--Fu2022 E
KMT2C     SP0062415chr7:
151896314-151896318		GATGTGintronicDe novo--Fu2022 E
KMT2C     SP0017378chr7:
151904421-151904421		CTexonicDe novononsynonymous SNVNM_170606c.G3805Ap.G1269S15.64-Fu2022 E
Zhou2022 GE
KMT2C     SP0133650chr7:
151947040-151947040		TCsplicingDe novosplicing8.834-Fu2022 E
Zhou2022 GE
KMT2C     SP0039899chr7:
151921108-151921108		TCexonicDe novosynonymous SNVNM_170606c.A3315Gp.Q1105Q--Fu2022 E
Zhou2022 GE
KMT2C     SP0101110chr7:
152012229-152012229		TCexonicDe novononsynonymous SNVNM_170606c.A584Gp.Q195R11.72-Fu2022 E
Trost2022 G
Zhou2022 GE
KMT2C     Krgovic2022:047960chr7:
151856031-151856033		GTGGexonicUnknownframeshift deletionNM_170606c.11585_11586delp.A3862fs--Krgovic2022 E
KMT2C     PN400564chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     M20711chr7:
151845915-151845915		ATexonicPaternalnonsynonymous SNVNM_170606c.T13097Ap.I4366N14.29-Guo2018 T
KMT2C     M21468chr7:
151843748-151843748		GAexonicPaternalnonsynonymous SNVNM_170606c.C13967Tp.A4656V11.478.252E-6Guo2018 T
KMT2C     M26912chr7:
151846108-151846108		GCexonicPaternalnonsynonymous SNVNM_170606c.C12904Gp.P4302A11.092.717E-5Guo2018 T
KMT2C     M17409chr7:
151846090-151846090		CC/TexonicPaternal--Guo2018 T
KMT2C     M16206chr7:
151843706-151843706		GAexonicPaternalnonsynonymous SNVNM_170606c.C14009Tp.A4670V19.456.605E-5Guo2018 T
KMT2C     M23185chr7:
151860622-151860622		TCexonicPaternalnonsynonymous SNVNM_170606c.A10040Gp.N3347S8.6343.0E-4Guo2018 T
KMT2C     M03623chr7:
151860131-151860131		CAexonicPaternalnonsynonymous SNVNM_170606c.G10531Tp.G3511C15.75-Guo2018 T
KMT2C     M23765chr7:
151873821-151873821		AGexonicPaternalnonsynonymous SNVNM_170606c.T8717Cp.I2906T3.712-Guo2018 T
KMT2C     M26948chr7:
151860779-151860779		TCexonicPaternalnonsynonymous SNVNM_170606c.A9883Gp.T3295A10.18.254E-6Guo2018 T
KMT2C     M20600chr7:
151849997-151849997		CTexonicPaternalnonsynonymous SNVNM_170606c.G12319Ap.V4107I17.968.237E-6Guo2018 T
KMT2C     M02223chr7:
151846108-151846108		GCexonicPaternalnonsynonymous SNVNM_170606c.C12904Gp.P4302A11.092.717E-5Guo2018 T
KMT2C     M23710chr7:
151856153-151856153		GAexonicPaternalnonsynonymous SNVNM_170606c.C11465Tp.T3822I15.01-Guo2018 T
KMT2C     M15016chr7:
151851183-151851183		TGexonicPaternalnonsynonymous SNVNM_170606c.A12188Cp.Y4063S11.15-Guo2018 T
KMT2C     M27882chr7:
151877190-151877190		TGexonicPaternalnonsynonymous SNVNM_170606c.A7171Cp.I2391L19.64.119E-5Guo2018 T
KMT2C     M15033chr7:
151877115-151877115		GAexonicPaternalnonsynonymous SNVNM_170606c.C7246Tp.H2416Y13.21-Guo2018 T
KMT2C     M08497chr7:
151878905-151878905		CC/TexonicPaternal--Guo2018 T
KMT2C     M18369chr7:
151878445-151878445		CTexonicPaternalnonsynonymous SNVNM_170606c.G6500Ap.R2167Q15.848.238E-6Guo2018 T
KMT2C     M08629chr7:
151876973-151876973		CTexonicPaternalnonsynonymous SNVNM_170606c.G7388Ap.R2463H16.297.0E-4Guo2018 T
KMT2C     M17478chr7:
151874926-151874926		GCexonicPaternalnonsynonymous SNVNM_170606c.C7612Gp.P2538A8.135-Guo2018 T
KMT2C     M20722chr7:
151877115-151877115		GAexonicPaternalnonsynonymous SNVNM_170606c.C7246Tp.H2416Y13.21-Guo2018 T
KMT2C     M19767chr7:
151876975-151876975		CAexonicPaternalnonsynonymous SNVNM_170606c.G7386Tp.Q2462H13.81.647E-5Guo2018 T
KMT2C     M20595chr7:
151949654-151949654		CGexonicPaternalnonsynonymous SNVNM_170606c.G1446Cp.M482I15.29-Guo2018 T
KMT2C     M16254chr7:
151948008-151948008		CTexonicPaternalnonsynonymous SNVNM_170606c.G1665Ap.M555I11.38.249E-6Guo2018 T
KMT2C     PN400565chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     M08395chr7:
152012271-152012271		TCexonicPaternalnonsynonymous SNVNM_170606c.A542Gp.Y181C11.058.237E-6Guo2018 T
KMT2C     1-0358-003chr7:
151901210-151901210		ACintronicDe novo--Yuen2017 G
KMT2C     PN400512chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     PN400512chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     2-1690-003chr7:
152016007-152016007		TCintronicDe novo--Trost2022 G
Yuen2017 G
KMT2C     GX0527.p1chr7:
151878033-151878033		CCTexonicMaternalframeshift insertionNM_170606c.6911_6912insAp.M2304fs--Guo2018 T
KMT2C     M01963 Complex Event; expand row to view variants  Unknownframeshift deletionNM_170606
NM_170606		c.6592_6593del
c.6593_6594del		p.R2198fs
p.R2198fs		--Guo2018 T
Wang2016 T
KMT2C     PN400108chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     PN400108chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     11241_p1chr7:
151927315-151927315		GAexonicDe novononsynonymous SNVNM_170606c.C2861Tp.T954I15.7-Fu2022 E
KMT2C     PN400540chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     Disecmas_215Pchr7:
151879277-151879277		GGTexonicDe novoframeshift insertionNM_170606c.5667dupAp.R1890fs--Fu2022 E
KMT2C     EGAN00001101168chr7:
151859745-151859747		TTCTexonicDe novoframeshift deletionNM_170606c.10915_10916delp.E3639fs--Fu2022 E
KMT2C     DEASD_2088_001chr7:
151879426-151879426		GAexonicDe novononsynonymous SNVNM_170606c.C5519Tp.S1840F12.2-Fu2022 E
KMT2C     5328chr7:
151842339-151842339		GTexonicDe novostopgainNM_170606c.C14073Ap.Y4691X55.01.65E-5Fu2022 E
Trost2022 G
KMT2C     ASC_11394-1chr7:
151921117-151921117		TCexonicDe novosynonymous SNVNM_170606c.A3306Gp.Q1102Q-6.661E-5Fu2022 E
KMT2C     CC1080_202chr7:
151877921-151877921		TCexonicDe novononsynonymous SNVNM_170606c.A7024Gp.M2342V0.0219.066E-5Fu2022 E
KMT2C     DEASD_0012_001chr7:
151845251-151845251		CGexonicDe novononsynonymous SNVNM_170606c.G13761Cp.W4587C14.52-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KMT2C     PN400205chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     DEASD_0107_001chr7:
151932977-151932978		ACAexonicDe novoframeshift deletionNM_170606c.2693delGp.G898fs--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KMT2C     PN400205chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     1-0582-003chr7:
152087864-152087878		TACACACACACACACTACACACACACACintronicDe novo--Yuen2017 G
KMT2C     2-1245-003chr7:
151976585-151976588		TAAATAAAAintronicDe novo--Yuen2017 G
KMT2C     SP0127819 Complex Event; expand row to view variants  De novoframeshift deletion, nonsynonymous SNV, frameshift substitutionNM_170606
NM_170606
NM_170606		c.11762delC
c.T11760G
c.11760_11762GG		p.A3921fs
p.F3920L
N/A		13.44-Antaki2022 GE
Trost2022 G
Zhou2022 GE
KMT2C     PN400542chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     SP0033305chr7:
151841811-151841811		CTexonicnonsynonymous SNVNM_170606c.G14330Ap.R4777Q26.08.274E-6Antaki2022 GE
Zhou2022 GE
KMT2C     PN400113chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     PN400113chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     M02033chr7:
151884896-151884896		ATexonicDe novononsynonymous SNVNM_170606c.T4697Ap.I1566N18.92-Guo2018 T
KMT2C     AU4235303chr7:
151831266-151831266		TGdownstreamDe novo--Trost2022 G
Yuen2017 G
KMT2C     GX0516.p1chr7:
151949171-151949171		CAexonicDe novononsynonymous SNVNM_170606c.G1474Tp.V492F14.73-Guo2018 T
KMT2C     PN400579chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     Ishay2021:17chr7:
151873293-151873293		GAexonicInheritednonsynonymous SNVNM_170606c.C9245Tp.P3082L17.180.0045Ishay2021 E
KMT2C     PN400491chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     PN400491chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     XJ500_XC485chr7:
151878327-151878328		AGAexonicDe novoframeshift deletionNM_170606c.6617delCp.P2206fs--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KMT2C     HN0043.p1chr7:
151856042-151856042		TCexonicMaternalnonsynonymous SNVNM_170606c.A11576Gp.E3859G16.96-Guo2018 T
KMT2C     M30618chr7:
151855985-151855985		AGexonicMaternalnonsynonymous SNVNM_170606c.T11633Cp.M3878T15.25-Guo2018 T
KMT2C     GX0281.p1chr7:
151873816-151873816		ATexonicMaternalnonsynonymous SNVNM_170606c.T8722Ap.S2908T8.1818.24E-6Guo2018 T
KMT2C     GX0358.p1chr7:
151859564-151859564		CTexonicMaternalnonsynonymous SNVNM_170606c.G11098Ap.A3700T10.498.237E-6Guo2018 T
KMT2C     GX0311.p1chr7:
151853118-151853118		GCexonicMaternalnonsynonymous SNVNM_170606c.C11837Gp.P3946R10.7-Guo2018 T
KMT2C     GX0074.p1chr7:
151879294-151879294		GAexonicMaternalnonsynonymous SNVNM_170606c.C5651Tp.P1884L16.62-Guo2018 T
KMT2C     04C36010chr7:
151949721-151949722		TATexonicDe novoframeshift deletionNM_170606c.1378delTp.Y460fs--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KMT2C     HN0030.p1chr7:
151877157-151877157		CTexonicMaternalnonsynonymous SNVNM_170606c.G7204Ap.G2402S12.29-Guo2018 T
KMT2C     GX0434.p1chr7:
151949068-151949068		CC/TexonicMaternal--Guo2018 T
KMT2C     HN0099.p1chr7:
151948024-151948024		CTexonicMaternalnonsynonymous SNVNM_170606c.G1649Ap.G550D11.638.255E-6Guo2018 T
KMT2C     GX0083.p1chr7:
151873887-151873887		CTexonicMaternalnonsynonymous SNVNM_170606c.G8651Ap.R2884Q0.6393.296E-5Guo2018 T
KMT2C     GX0224.p1chr7:
151873816-151873816		ATexonicMaternalnonsynonymous SNVNM_170606c.T8722Ap.S2908T8.1818.24E-6Guo2018 T
KMT2C     M30901chr7:
151873990-151873990		CTexonicMaternalnonsynonymous SNVNM_170606c.G8548Ap.D2850N0.3068.237E-6Guo2018 T
KMT2C     M31959chr7:
151873990-151873990		CTexonicMaternalnonsynonymous SNVNM_170606c.G8548Ap.D2850N0.3068.237E-6Guo2018 T
KMT2C     mAGRE5901chr7:
151868351-151868351		GAexonicDe novostopgainNM_170606c.C9451Tp.Q3151X51.0-Cirnigliaro2023 G
KMT2C     13897.p1chr7:
151836804-151836804		GCexonicMosaicnonsynonymous SNVNM_170606c.C14416Gp.R4806G13.46-Dou2017 E
Krupp2017 E
KMT2C     M30340chr7:
152055717-152055717		TAexonicMaternalnonsynonymous SNVNM_170606c.A205Tp.M69L17.135.766E-5Guo2018 T
KMT2C     PN400321chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     2-1781-003chr7:
151881150-151881150		TCintronicDe novo--Trost2022 G
KMT2C     REACH000233chr7:
152015002-152015002		GAintronicDe novo--Trost2022 G
KMT2C     1-0750-003chr7:
152017059-152017059		GAintronicDe novo--Trost2022 G
KMT2C     AU2310301chr7:
152009248-152009248		GCintronicDe novo--Trost2022 G
KMT2C     1-1183-003chr7:
152014439-152014439		CGintronicDe novo--Trost2022 G
KMT2C     PN400215chr7:
151970859-151970859		CTexonicUnknownnonsynonymous SNVNM_170606c.G943Ap.G315S22.30.0832Leblond2019 E
KMT2C     SP0060430chr7:
151962055-151962055		CTintronicDe novo--Trost2022 G
KMT2C     MSSNG00362-003chr7:
151999656-151999656		TCintronicDe novo--Trost2022 G
KMT2C     1-1112-003chr7:
151934526-151934526		GAintronicDe novo--Trost2022 G
KMT2C     5-5083-003chr7:
151950485-151950485		TCintronicDe novo--Trost2022 G
KMT2C     AU0452303chr7:
152102425-152102425		GAintronicDe novo--Trost2022 G
KMT2C     REACH000026chr7:
152081670-152081670		CAintronicDe novo--Trost2022 G
KMT2C     1-0182-003chr7:
152097752-152097752		TTAAintronicDe novo--Trost2022 G
KMT2C     PN400259chr7:
151962134-151962134		GTexonicUnknownstopgainNM_170606c.C1173Ap.C391X39.00.0294Leblond2019 E
KMT2C     1-0446-003chr7:
152062570-152062570		GAintronicDe novo--Trost2022 G
Yuen2017 G
KMT2C     4G659chr7:
151845723-151845723		ACexonicDe novononsynonymous SNVNM_170606c.T13289Gp.L4430W16.77-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
Source Variant Information

, -

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
More

VariCarta Copyright © 2016-2023 Contact Us