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Results for "MYH9"

Variant Events: 70

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     BK_714_01chr22:
36682870-36682870
CTexonicPaternalnonsynonymous SNVNM_002473c.G4955Ap.R1652H35.08.256E-6Wang2020 T
MYH9     A8Z8Mchr22:
36685240-36685240
CTexonicInherited, Unknownnonsynonymous SNVNM_002473c.G4448Ap.R1483Q36.08.307E-6Stessman2017 T
Wang2020 T
Wang2020 T
MYH9     7-0059-003chr22:
36791704-36791704
GAintergenicDe novo--Yuen2017 G
MYH9     PN400259chr22:
36684817-36684817
GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Leblond2019 E
MYH9     AU1406301chr22:
36685198-36685198
CTexonicUnknownnonsynonymous SNVNM_002473c.G4490Ap.R1497Q32.0-Wang2020 T
MYH9     11810.p1chr22:
36684831-36684831
CTexonicDe novononsynonymous SNVNM_002473c.G4712Ap.R1571Q36.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
MYH9     220-9958-201chr22:
36745209-36745209
CTexonicPaternalnonsynonymous SNVNM_002473c.G73Ap.D25N35.08.242E-6Stessman2017 T
Wang2020 T
Wang2020 T
MYH9     972-08Dchr22:
36685198-36685198
CTexonicUnknownnonsynonymous SNVNM_002473c.G4490Ap.R1497Q32.0-Wang2020 T
MYH9     194chr22:
36690329-36690329
CTexonicPaternalnonsynonymous SNVNM_002473c.G3646Ap.E1216K33.0-Wang2020 T
Wang2020 T
MYH9     V9F9Lchr22:
36681730-36681730
CTexonicUnknownnonsynonymous SNVNM_002473c.G5248Ap.D1750N36.08.347E-6Wang2020 T
Wang2020 T
Wang2020 T
MYH9     PN400231chr22:
36680242-36680242
GAexonicUnknownnonsynonymous SNVNM_002473c.C5662Tp.R1888W22.61.701E-5Leblond2019 E
MYH9     435.03chr22:
36680242-36680242
GAexonicUnknownnonsynonymous SNVNM_002473c.C5662Tp.R1888W22.61.701E-5Wang2020 T
Wang2020 T
MYH9     440chr22:
36690329-36690329
CTexonicPaternal, Unknownnonsynonymous SNVNM_002473c.G3646Ap.E1216K33.0-Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
MYH9     252.03chr22:
36680224-36680224
GAexonicUnknownnonsynonymous SNVNM_002473c.C5680Tp.R1894W18.898.362E-6Wang2020 T
Wang2020 T
MYH9     S5K6Bchr22:
36681730-36681730
CTexonicUnknownnonsynonymous SNVNM_002473c.G5248Ap.D1750N36.08.347E-6Wang2020 T
Wang2020 T
MYH9     NDAR_INVDT876BAG_wes1chr22:
36690159-36690159
GAexonicDe novosynonymous SNVNM_002473c.C3816Tp.A1272A-1.654E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
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
Kosmicki2017 E
Satterstrom2020 E
MYH9     NDAR_INVFL301RVQ_wes1chr22:
36692966-36692966
GAexonicDe novosynonymous SNVNM_002473c.C3195Tp.A1065A-8.296E-6DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
MYH9     PN400170chr22:
36684817-36684817
GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Leblond2019 E
MYH9     A12011-1chr22:
36685297-36685297
CTexonicUnknownnonsynonymous SNVNM_002473c.G4391Ap.R1464H35.05.355E-5Li2017 T
MYH9     BK808-03chr22:
36689506-36689506
GAexonicMaternal, Unknownnonsynonymous SNVNM_002473c.C3964Tp.R1322W26.42.474E-5Wang2020 T
Wang2020 T
Wang2020 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
CTexonicInherited, Unknownnonsynonymous SNVNM_002473c.G2194Ap.G732S35.0-Stessman2017 T
Wang2020 T
Wang2020 T
MYH9     SF0033642.p2chr22:
36689833-36689833
GAexonicDe novononsynonymous SNVNM_002473c.C3914Tp.A1305V17.128.394E-6Wang2020 T
MYH9     2558chr22:
36684455-36684455
CTexonicMaternalnonsynonymous SNVNM_002473c.G4775Ap.R1592Q21.6-Wang2020 T
Wang2020 T
MYH9     SF0064002.p1chr22:
36684817-36684817
GAexonicDe novononsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Wang2020 T
MYH9     AU022704chr22:
36701114-36701114
CTexonicInherited, Unknownnonsynonymous SNVNM_002473c.G2194Ap.G732S35.0-Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
MYH9     SF0059691.p1chr22:
36700062-36700062
CTexonicDe novononsynonymous SNVNM_002473c.G2369Ap.C790Y27.4-Wang2020 T
MYH9     215-13209-2343chr22:
36688078-36688078
CTexonicUnknownnonsynonymous SNVNM_002473c.G4298Ap.R1433H19.561.648E-5Stessman2017 T
Wang2020 T
Wang2020 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-Satterstrom2020 E
MYH9     BK808-02chr22:
36689506-36689506
GAexonicMaternalnonsynonymous SNVNM_002473c.C3964Tp.R1322W26.42.474E-5Wang2020 T
Wang2020 T
MYH9     PN400232chr22:
36680242-36680242
GAexonicUnknownnonsynonymous SNVNM_002473c.C5662Tp.R1888W22.61.701E-5Leblond2019 E
MYH9     BK_714.01chr22:
36682870-36682870
CTexonicPaternalnonsynonymous SNVNM_002473c.G4955Ap.R1652H35.08.256E-6Wang2020 T
MYH9     2-0219-004chr22:
36819363-36819363
ACintergenicDe novo--Yuen2017 G
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     436.102chr22:
36680209-36680209
CTexonicPaternalnonsynonymous SNVNM_002473c.G5695Ap.E1899K36.01.658E-5Wang2020 T
Wang2020 T
MYH9     Li2017:23169chr22:
36718542-36718542
GCexonicUnknownnonsynonymous SNVNM_002473c.C637Gp.Q213E34.0-Li2017 T
MYH9     03C16798chr22:
36680274-36680274
CTexonicPaternalnonsynonymous SNVNM_002473c.G5630Ap.R1877Q37.01.758E-5Wang2020 T
Wang2020 T
MYH9     62599170chr22:
36715645-36715645
CTexonicUnknownnonsynonymous SNVNM_002473c.G1048Ap.G350S36.0-Wang2020 T
Wang2020 T
MYH9     PN400505chr22:
36684817-36684817
GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Leblond2019 E
MYH9     1-0564-003chr22:
36828206-36828206
CAintergenicDe novo--Yuen2017 G
MYH9     05C44988chr22:
36681373-36681373
GAexonicDe novosynonymous SNVNM_002473c.C5277Tp.I1759I-5.0E-4Satterstrom2020 E
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     7609chr22:
36702058-36702058
GAexonicUnknownnonsynonymous SNVNM_002473c.C2077Tp.R693C27.81.663E-5Wang2020 T
Wang2020 T
MYH9     726chr22:
36680275-36680275
GAexonicUnknownnonsynonymous SNVNM_002473c.C5629Tp.R1877W24.26.179E-5Wang2020 T
Wang2020 T
MYH9     Li2017:17665chr22:
36684817-36684817
GAexonicUnknownnonsynonymous SNVNM_002473c.C4726Tp.R1576W23.46.618E-5Li2017 T
MYH9     T175_03chr22:
36701102-36701102
CTexonicUnknownnonsynonymous SNVNM_002473c.G2206Ap.G736R32.08.271E-6Wang2020 T
Wang2020 T
MYH9     210-18133-303chr22:
36716343-36716343
CTexonicUnknownnonsynonymous SNVNM_002473c.G934Ap.G312R35.01.647E-5Wang2020 T
Wang2020 T
MYH9     209185chr22:
36700183-36700183
CTexonicUnknownnonsynonymous SNVNM_002473c.G2248Ap.D750N20.8-Wang2020 T
Wang2020 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     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--Yuen2016 G
Yuen2017 G
MYH9     AU3399302chr22:
36712894-36712894
TCintronicDe novo--Yuen2017 G
MYH9     2-0319-004chr22:
36800849-36800849
TGintergenicDe novo--Yuen2017 G
MYH9     SSC03249chr22:
36684831-36684831
CTexonicDe novononsynonymous SNVNM_002473c.G4712Ap.R1571Q36.0-Lim2017 E
MYH9     341.03chr22:
36701092-36701092
GAexonicMaternalnonsynonymous SNVNM_002473c.C2216Tp.A739V32.02.483E-5Wang2020 T
Wang2020 T
MYH9     AU3727303chr22:
36739429-36739429
ACintronicDe novo--Yuen2017 G
MYH9     210-18194-302chr22:
36690302-36690302
CTexonicMaternalnonsynonymous SNVNM_002473c.G3673Ap.E1225K35.08.246E-6Wang2020 T
Wang2020 T
MYH9     111_2_a.2.1chr22:
36690302-36690302
CTexonicUnknownnonsynonymous SNVNM_002473c.G3673Ap.E1225K35.08.246E-6Wang2020 T
Wang2020 T
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
Curation notesView
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