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Results for "MYH9"

Variant Events: 91

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
MYH9     Leuven_209185chr22:
36700183-36700183		CTexonicUnknownnonsynonymous SNVNM_002473c.G2248Ap.D750N20.8-Wang2020 T
MYH9     Greenwood_Cms23868chr22:
36745116-36745116		CTexonicUnknownnonsynonymous SNVNM_002473c.G166Ap.V56M22.9-Wang2020 T
MYH9     SAGE_435.03chr22:
36680242-36680242		GAexonicUnknownnonsynonymous SNVNM_002473c.C5662Tp.R1888W22.61.701E-5Wang2020 T
MYH9     SP0135935chr22:
36685281-36685281		CTexonicDe novosynonymous SNVNM_002473c.G4407Ap.A1469A7.544-Fu2022 E
Trost2022 G
Zhou2022 GE
MYH9     Wang2023:208chr22:
36681789-36681789		CTexonicDe novononsynonymous SNVNM_002473c.G5189Ap.R1730H35.0-Wang2023 E
MYH9     SP0033643chr22:
36689833-36689833		GAexonicDe novononsynonymous SNVNM_002473c.C3914Tp.A1305V17.128.394E-6Fu2022 E
Trost2022 G
Zhou2022 GE
MYH9     A8Z8Mchr22:
36685240-36685240		CTexonicInheritednonsynonymous SNVNM_002473c.G4448Ap.R1483Q36.08.307E-6Stessman2017 T
MYH9     SP0088298chr22:
36680342-36680342		CTintronicDe novo-7.727E-5Fu2022 E
Trost2022 G
MYH9     7-0059-003chr22:
36791704-36791704		GAintergenicDe novo--Yuen2017 G
MYH9     PN400259chr22:
36684817-36684817		GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Leblond2019 E
MYH9     SAGE_252.03chr22:
36680224-36680224		GAexonicUnknownnonsynonymous SNVNM_002473c.C5680Tp.R1894W18.898.362E-6Wang2020 T
MYH9     11810.p1chr22:
36684831-36684831		CTexonicUnknown, De novononsynonymous SNVNM_002473c.G4712Ap.R1571Q36.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
MYH9     220-9958-201chr22:
36745209-36745209		CTexonicPaternalnonsynonymous SNVNM_002473c.G73Ap.D25N35.08.242E-6Stessman2017 T
MYH9     SAGE_T175_03chr22:
36701102-36701102		CTexonicUnknownnonsynonymous SNVNM_002473c.G2206Ap.G736R32.08.271E-6Wang2020 T
MYH9     Gecz3_41453chr22:
36684817-36684817		GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Wang2020 T
MYH9     SP0246973chr22:
36745307-36745307		GTintronic--Zhou2022 GE
MYH9     TASC_215-13209-2343chr22:
36688078-36688078		CTexonicUnknownnonsynonymous SNVNM_002473c.G4298Ap.R1433H19.561.648E-5Wang2020 T
MYH9     SP0148653chr22:
36723518-36723518		GCexonicDe novononsynonymous SNVNM_002473c.C506Gp.S169C23.3-Trost2022 G
Zhou2022 GE
MYH9     SanDiego_V9F9Lchr22:
36681730-36681730		CTexonicUnknownnonsynonymous SNVNM_002473c.G5248Ap.D1750N36.08.347E-6Wang2020 T
MYH9     PN400231chr22:
36680242-36680242		GAexonicUnknownnonsynonymous SNVNM_002473c.C5662Tp.R1888W22.61.701E-5Leblond2019 E
MYH9     SanDiego_S5K6Bchr22:
36681730-36681730		CTexonicUnknownnonsynonymous SNVNM_002473c.G5248Ap.D1750N36.08.347E-6Wang2020 T
MYH9     Naples_7609chr22:
36702058-36702058		GAexonicUnknownnonsynonymous SNVNM_002473c.C2077Tp.R693C27.81.663E-5Wang2020 T
MYH9     ITAN_726chr22:
36680275-36680275		GAexonicUnknownnonsynonymous SNVNM_002473c.C5629Tp.R1877W24.26.179E-5Wang2020 T
MYH9     NDAR_INVDT876BAG_wes1chr22:
36690159-36690159		GAexonicDe novosynonymous SNVNM_002473c.C3816Tp.A1272A-1.654E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MYH9     Li2017:16274chr22:
36714302-36714302		GAexonicUnknownnonsynonymous SNVNM_002473c.C1177Tp.R393C20.8-Li2017 T
MYH9     ASDFI_1336chr22:
36690219-36690219		CTexonicDe novosynonymous SNVNM_002473c.G3756Ap.A1252A-8.245E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MYH9     NDAR_INVFL301RVQ_wes1chr22:
36692966-36692966		GAexonicDe novosynonymous SNVNM_002473c.C3195Tp.A1065A-8.296E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MYH9     PN400170chr22:
36684817-36684817		GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Leblond2019 E
MYH9     Gecz2_32874chr22:
36684817-36684817		GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Wang2020 T
MYH9     A12011-1chr22:
36685297-36685297		CTexonicUnknownnonsynonymous SNVNM_002473c.G4391Ap.R1464H35.05.355E-5Li2017 T
MYH9     Gecz3_42057chr22:
36684817-36684817		GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Wang2020 T
MYH9     PN400132chr22:
36680242-36680242		GAexonicUnknownnonsynonymous SNVNM_002473c.C5662Tp.R1888W22.61.701E-5Leblond2019 E
MYH9     A12011-1chr22:
36693013-36693013		GAexonicUnknownnonsynonymous SNVNM_002473c.C3148Tp.R1050C27.8-Li2017 T
MYH9     Li2017:23067chr22:
36684831-36684831		CTexonicUnknownnonsynonymous SNVNM_002473c.G4712Ap.R1571Q36.0-Li2017 T
MYH9     74-0352chr22:
36828243-36828243		GCintergenicDe novo--Michaelson2012 G
MYH9     03C16001chr22:
36701114-36701114		CTexonicInheritednonsynonymous SNVNM_002473c.G2194Ap.G732S35.0-Stessman2017 T
MYH9     Iowa_111_2_a.2.1chr22:
36690302-36690302		CTexonicUnknownnonsynonymous SNVNM_002473c.G3673Ap.E1225K35.08.246E-6Wang2020 T
MYH9     SAGE_BK_714_01chr22:
36682870-36682870		CTexonicPaternalnonsynonymous SNVNM_002473c.G4955Ap.R1652H35.08.256E-6Wang2020 T
MYH9     Gecz4_48991chr22:
36690302-36690302		CTexonicUnknownnonsynonymous SNVNM_002473c.G3673Ap.E1225K35.08.246E-6Wang2020 T
MYH9     AU022704chr22:
36701114-36701114		CTexonicInheritednonsynonymous SNVNM_002473c.G2194Ap.G732S35.0-Stessman2017 T
MYH9     TASC_210-18194-302chr22:
36690302-36690302		CTexonicMaternalnonsynonymous SNVNM_002473c.G3673Ap.E1225K35.08.246E-6Wang2020 T
MYH9     215-13209-2343chr22:
36688078-36688078		CTexonicUnknownnonsynonymous SNVNM_002473c.G4298Ap.R1433H19.561.648E-5Stessman2017 T
MYH9     13777.p1chr22:
36716407-36716407		GAexonicMosaicsynonymous SNVNM_002473c.C870Tp.T290T-1.0E-4Dou2017 E
Krupp2017 E
MYH9     07C70644chr22:
36691061-36691061		GAexonicDe novononsynonymous SNVNM_002473c.C3547Tp.H1183Y27.5-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MYH9     PN400232chr22:
36680242-36680242		GAexonicUnknownnonsynonymous SNVNM_002473c.C5662Tp.R1888W22.61.701E-5Leblond2019 E
MYH9     AGRE_03C16798chr22:
36680274-36680274		CTexonicPaternalnonsynonymous SNVNM_002473c.G5630Ap.R1877Q37.01.758E-5Wang2020 T
MYH9     SAGE_436.102chr22:
36680209-36680209		CTexonicPaternalnonsynonymous SNVNM_002473c.G5695Ap.E1899K36.01.658E-5Wang2020 T
MYH9     TASC_220-9958-201chr22:
36745209-36745209		CTexonicPaternalnonsynonymous SNVNM_002473c.G73Ap.D25N35.08.242E-6Wang2020 T
MYH9     2-0219-004chr22:
36819363-36819363		ACintergenicDe novo--Yuen2017 G
MYH9     SanDiego_A8Z8Mchr22:
36685240-36685240		CTexonicUnknownnonsynonymous SNVNM_002473c.G4448Ap.R1483Q36.08.307E-6Wang2020 T
MYH9     Leuven_62599170chr22:
36715645-36715645		CTexonicUnknownnonsynonymous SNVNM_002473c.G1048Ap.G350S36.0-Wang2020 T
MYH9     PN400499chr22:
36684961-36684961		GAexonicUnknownnonsynonymous SNVNM_002473c.C4582Tp.R1528W24.64.943E-5Leblond2019 E
MYH9     PN400220chr22:
36684817-36684817		GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Leblond2019 E
MYH9     Li2017:23169chr22:
36718542-36718542		GCexonicUnknownnonsynonymous SNVNM_002473c.C637Gp.Q213E34.0-Li2017 T
MYH9     SAGE_341.03chr22:
36701092-36701092		GAexonicMaternalnonsynonymous SNVNM_002473c.C2216Tp.A739V32.02.483E-5Wang2020 T
MYH9     PN400505chr22:
36684817-36684817		GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Leblond2019 E
MYH9     AGRE_03C16001chr22:
36701114-36701114		CTexonicUnknownnonsynonymous SNVNM_002473c.G2194Ap.G732S35.0-Wang2020 T
MYH9     1-0564-003chr22:
36828206-36828206		CAintergenicDe novo--Yuen2017 G
MYH9     TASC_210-18133-303chr22:
36716343-36716343		CTexonicUnknownnonsynonymous SNVNM_002473c.G934Ap.G312R35.01.647E-5Wang2020 T
MYH9     AGRE_AU022704chr22:
36701114-36701114		CTexonicUnknownnonsynonymous SNVNM_002473c.G2194Ap.G732S35.0-Wang2020 T
MYH9     05C44988chr22:
36681373-36681373		GAexonicDe novosynonymous SNVNM_002473c.C5277Tp.I1759I-5.0E-4Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MYH9     PN400493chr22:
36680242-36680242		GAexonicUnknownnonsynonymous SNVNM_002473c.C5662Tp.R1888W22.61.701E-5Leblond2019 E
MYH9     Li2017:23636chr22:
36691713-36691713		TGexonicUnknownnonsynonymous SNVNM_002473c.A3323Cp.E1108A25.7-Li2017 T
MYH9     AU4199303chr22:
36785990-36785990		CAintergenicDe novo--Yuen2017 G
MYH9     Li2017:17665chr22:
36684817-36684817		GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Li2017 T
MYH9     PN400230chr22:
36680242-36680242		GAexonicUnknownnonsynonymous SNVNM_002473c.C5662Tp.R1888W22.61.701E-5Leblond2019 E
MYH9     Li2017:23710chr22:
36697021-36697021		CTexonicDe novononsynonymous SNVNM_002473c.G2714Ap.R905H35.03.311E-5Li2017 T
MYH9     12529.p1chr22:
36695512-36695512		CTintronicDe novo--Turner2016 G
MYH9     ITAN_440chr22:
36690329-36690329		CTexonicPaternalnonsynonymous SNVNM_002473c.G3646Ap.E1216K33.0-Wang2020 T
MYH9     ITAN_194chr22:
36690329-36690329		CTexonicPaternalnonsynonymous SNVNM_002473c.G3646Ap.E1216K33.0-Wang2020 T
MYH9     AU031204chr22:
36821987-36821987		GAintergenicDe novo--Yuen2017 G
MYH9     Li2017:23806chr22:
36681972-36681972		GAexonicUnknownnonsynonymous SNVNM_002473c.C5089Tp.R1697C19.128.331E-6Li2017 T
MYH9     2-1195-003chr22:
36679834-36679834		CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
MYH9     SP0059691chr22:
36700062-36700062		CTexonicDe novononsynonymous SNVNM_002473c.G2369Ap.C790Y27.4-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
MYH9     REACH000349chr22:
36781133-36781133		GCintronicDe novo--Trost2022 G
MYH9     AU3399302chr22:
36712894-36712894		TCintronicDe novo--Trost2022 G
Yuen2017 G
MYH9     REACH000073chr22:
36752926-36752926		CTintronicDe novo--Trost2022 G
MYH9     SAGE_BK808-02chr22:
36689506-36689506		GAexonicMaternalnonsynonymous SNVNM_002473c.C3964Tp.R1322W26.42.474E-5Wang2020 T
MYH9     7-0257-003chr22:
36748598-36748598		TCintronicDe novo--Trost2022 G
MYH9     5-5123-003chr22:
36742796-36742796		CTintronicDe novo--Trost2022 G
MYH9     7-0379-003chr22:
36707978-36707978		GAintronicDe novo--Trost2022 G
MYH9     SAGE_BK808-03chr22:
36689506-36689506		GAexonicMaternalnonsynonymous SNVNM_002473c.C3964Tp.R1322W26.42.474E-5Wang2020 T
MYH9     5-5130-004chr22:
36688566-36688566		CTintronicDe novo--Trost2022 G
MYH9     SF0064002.p1chr22:
36684817-36684817		GAexonicnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Wang2020 T
MYH9     2-0319-004chr22:
36800849-36800849		TGintergenicDe novo--Yuen2017 G
MYH9     SF0059691.p1chr22:
36700062-36700062		CTexonicnonsynonymous SNVNM_002473c.G2369Ap.C790Y27.4-Wang2020 T
MYH9     SP0064002chr22:
36684817-36684817		GAexonicDe novononsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Fu2022 E
Trost2022 G
Zhou2022 GE
MYH9     ITAN_2558chr22:
36684455-36684455		CTexonicMaternalnonsynonymous SNVNM_002473c.G4775Ap.R1592Q21.6-Wang2020 T
MYH9     SF0033642.p2chr22:
36689833-36689833		GAexonicnonsynonymous SNVNM_002473c.C3914Tp.A1305V17.128.394E-6Wang2020 T
MYH9     SSC03249chr22:
36684831-36684831		CTexonicDe novononsynonymous SNVNM_002473c.G4712Ap.R1571Q36.0-Fu2022 E
Lim2017 E
Trost2022 G
MYH9     AU3727303chr22:
36739429-36739429		ACintronicDe novo--Trost2022 G
Yuen2017 G
Source Variant Information

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Paper Information
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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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