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Results for "ASH1L"

Variant Events: 131

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
ASH1L     194_1_a.2.1chr1:
155313212-155313212
CTexonicUnknownnonsynonymous SNVNM_018489c.G8186Ap.R2729H35.0-Wang2020 T
ASH1L     60307063chr1:
155307459-155307459
GAexonicUnknownstopgainNM_018489c.C8887Tp.R2963X52.08.239E-5Wang2020 T
Wang2020 T
ASH1L     M03093chr1:
155491232-155491232
TCexonicMaternalnonsynonymous SNVNM_018489c.A79Gp.S27G11.18.238E-6Guo2018 T
ASH1L     M19813chr1:
155448636-155448636
CTexonicUnknown, Paternalnonsynonymous SNVNM_018489c.G4025Ap.R1342Q26.43.303E-5Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
ASH1L     250_4_a.2.1chr1:
155307999-155307999
GGTexonicUnknownframeshift insertionNM_018489c.8683dupAp.T2895fs-6.66E-5Wang2020 T
Wang2020 T
ASH1L     M10042chr1:
155451250-155451250
GAexonicUnknownnonsynonymous SNVNM_018489c.C1411Tp.R471W15.993.312E-5Wang2016 T
ASH1L     1-0014-003chr1:
155451143-155451145
GAAGexonicDe novoframeshift deletionNM_018489c.1516_1517delp.F506fs--Wang2020 T
ASH1L     1-0155-003chr1:
155512068-155512068
CTintronicDe novo--Yuen2017 G
ASH1L     AU3946302chr1:
155307459-155307459
GAexonicDe novostopgainNM_018489c.C8887Tp.R2963X52.08.239E-5Wang2020 T
ASH1L     1-0108-004chr1:
155307459-155307459
GAexonicDe novostopgainNM_018489c.C8887Tp.R2963X52.08.239E-5Wang2020 T
ASH1L     GD0027.p1chr1:
155317506-155317506
GAexonicUnknownnonsynonymous SNVNM_018489c.C7744Tp.R2582C34.02.471E-5Wang2020 T
Wang2020 T
ASH1L     M23227chr1:
155429689-155429689
CTexonicDe novononsynonymous SNVNM_018489c.G4985Ap.G1662D18.33-Guo2018 T
Wang2016 T
ASH1L     M31944chr1:
155408695-155408695
GAexonicPaternalnonsynonymous SNVNM_018489c.C5251Tp.R1751C11.083.295E-5Guo2018 T
ASH1L     GX0086.p1chr1:
155408266-155408266
TCexonicPaternalnonsynonymous SNVNM_018489c.A5680Gp.T1894A15.658.255E-6Guo2018 T
ASH1L     GX0489.p1chr1:
155448094-155448094
CTexonicPaternalnonsynonymous SNVNM_018489c.G4567Ap.A1523T1.612-Guo2018 T
ASH1L     HN0047.p1chr1:
155408695-155408695
GAexonicPaternalnonsynonymous SNVNM_018489c.C5251Tp.R1751C11.083.295E-5Guo2018 T
ASH1L     A4chr1:
155499769-155499769
ATintronicDe novo--Wu2018 G
ASH1L     M30862chr1:
155451004-155451004
TCexonicPaternalnonsynonymous SNVNM_018489c.A1657Gp.S553G11.25-Guo2018 T
ASH1L     72894686chr1:
155317667-155317667
CTexonicUnknownnonsynonymous SNVNM_018489c.G7583Ap.G2528E32.0-Wang2020 T
Wang2020 T
ASH1L     2-1475-003chr1:
155387025-155387026
CTCintronicDe novo--Yuen2017 G
ASH1L     M30346chr1:
155450971-155450971
CTexonicPaternalnonsynonymous SNVNM_018489c.G1690Ap.V564I13.24-Guo2018 T
ASH1L     HN0048.p1chr1:
155452158-155452158
TAexonicPaternalnonsynonymous SNVNM_018489c.A503Tp.Q168L16.29-Guo2018 T
ASH1L     224_1_a.2.1chr1:
155448901-155448901
GAexonicUnknownnonsynonymous SNVNM_018489c.C3760Tp.R1254C18.175.773E-5Wang2020 T
Wang2020 T
ASH1L     00921-U9T8Lchr1:
155408787-155408787
CTexonicUnknownnonsynonymous SNVNM_018489c.G5159Ap.R1720Q28.61.649E-5Wang2020 T
ASH1L     GX0003.p1chr1:
155452054-155452054
CTexonicPaternalnonsynonymous SNVNM_018489c.G607Ap.D203N19.54-Guo2018 T
ASH1L     76241975chr1:
155448756-155448756
CGexonicUnknownnonsynonymous SNVNM_018489c.G3905Cp.R1302P17.87-Wang2020 T
Wang2020 T
ASH1L     GX0271.p1chr1:
155449182-155449182
CTexonicPaternalnonsynonymous SNVNM_018489c.G3479Ap.R1160Q16.284.121E-5Guo2018 T
ASH1L     07C62595; AGREchr1:
155308162-155308162
GAexonicUnknownnonsynonymous SNVNM_018489c.C8521Tp.R2841C17.043.299E-5Wang2020 T
ASH1L     GX0232.p1chr1:
155449170-155449170
GAexonicPaternalnonsynonymous SNVNM_018489c.C3491Tp.P1164L18.87-Guo2018 T
ASH1L     372.03chr1:
155448756-155448756
CTexonicUnknownnonsynonymous SNVNM_018489c.G3905Ap.R1302Q21.31.65E-5Wang2020 T
ASH1L     1-0820-003chr1:
155430510-155430519
GTAATTAATTGTAATTintronicDe novo--Yuen2017 G
ASH1L     GX0183.p1chr1:
155450407-155450407
TCexonicPaternalnonsynonymous SNVNM_018489c.A2254Gp.N752D10.53-Guo2018 T
ASH1L     GX0415.p1chr1:
155450188-155450188
TCexonicPaternalnonsynonymous SNVNM_018489c.A2473Gp.K825E11.378.283E-6Guo2018 T
ASH1L     3-0307-000chr1:
155441777-155441777
GAintronicDe novo--Yuen2017 G
ASH1L     GX0316.p1chr1:
155491016-155491016
GTexonicPaternalnonsynonymous SNVNM_018489c.C295Ap.P99T24.4-Guo2018 T
ASH1L     AU1802301chr1:
155308162-155308162
GAexonicUnknownnonsynonymous SNVNM_018489c.C8521Tp.R2841C17.043.299E-5Wang2020 T
Wang2020 T
ASH1L     SX0031.p1chr1:
155447943-155447943
GAexonicPaternalnonsynonymous SNVNM_018489c.C4718Tp.T1573I14.633.297E-5Guo2018 T
ASH1L     HEN0058.p1chr1:
155452104-155452104
GAexonicPaternalnonsynonymous SNVNM_018489c.C557Tp.A186V13.53-Guo2018 T
ASH1L     HEN0278.p1chr1:
155448027-155448027
GAexonicPaternalnonsynonymous SNVNM_018489c.C4634Tp.P1545L23.4-Guo2018 T
ASH1L     M08611chr1:
155319144-155319144
TGexonicUnknownnonsynonymous SNVNM_018489c.A7528Cp.M2510L22.6-Guo2018 T
ASH1L     JS0046.p1chr1:
155491209-155491209
CGexonicPaternalnonsynonymous SNVNM_018489c.G102Cp.K34N15.37-Guo2018 T
ASH1L     M27787chr1:
155348172-155348172
CAexonicMaternalnonsynonymous SNVNM_018489c.G6232Tp.V2078F35.0-Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
ASH1L     SF0104732.p1chr1:
155317647-155317647
GAexonicDe novostopgainNM_018489c.C7603Tp.R2535X52.0-Wang2020 T
ASH1L     M17447chr1:
155450475-155450475
CTexonicMaternalnonsynonymous SNVNM_018489c.G2186Ap.R729Q12.873.313E-5Guo2018 T
Wang2016 T
ASH1L     SF0030168.p1chr1:
155448617-155448622
CTTTTTCexonicDe novoframeshift deletionNM_018489c.4039_4043delp.K1347fs--Wang2020 T
ASH1L     SF0062383.p1chr1:
155324288-155324288
GAexonicDe novostopgainNM_018489c.C7189Tp.R2397X51.0-Wang2020 T
ASH1L     M20837chr1:
155348166-155348166
CTexonicDe novononsynonymous SNVNM_018489c.G6238Ap.V2080I35.06.589E-5Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
ASH1L     M3093chr1:
155491232-155491232
TCexonicMaternalnonsynonymous SNVNM_018489c.A79Gp.S27G11.18.238E-6Wang2016 T
ASH1L     SF0139640.p1chr1:
155451313-155451313
GAexonicDe novostopgainNM_018489c.C1348Tp.Q450X39.0-Wang2020 T
ASH1L     M23104chr1:
155447834-155447834
ACexonicMaternalnonsynonymous SNVNM_018489c.T4827Gp.S1609R21.28.241E-6Guo2018 T
Wang2016 T
ASH1L     M13309chr1:
155327420-155327420
GAexonicPaternalnonsynonymous SNVNM_018489c.C6916Tp.R2306W21.76.59E-5Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
ASH1L     SF0097307.p1chr1:
155449093-155449093
CCAexonicDe novostopgainNM_018489c.3567dupTp.E1190_S1191delinsX--Wang2020 T
ASH1L     SF0074229.p1chr1:
155451739-155451739
GGTexonicDe novoframeshift insertionNM_018489c.921dupAp.L308fs--Wang2020 T
ASH1L     13678.p1chr1:
155340680-155340680
CAexonicDe novostopgainNM_018489c.G6427Tp.E2143X52.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
ASH1L     2-1365-003chr1:
155343838-155343838
GTintronicDe novo--Yuen2016 G
Yuen2017 G
ASH1L     M12425chr1:
155449669-155449669
ACexonicMaternalnonsynonymous SNVNM_018489c.T2992Gp.L998V14.21.0E-4Guo2018 T
Wang2016 T
ASH1L     M26870chr1:
155448058-155448058
GAexonicPaternalnonsynonymous SNVNM_018489c.C4603Tp.R1535C17.276.589E-5Guo2018 T
Wang2016 T
ASH1L     11282.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_018489
NM_018489
c.7767_7768insCAAG
c.7766_7767insCAAG
p.D2590fs
p.K2589fs
--Dong2014 E
Ji2016 E
Kosmicki2017 E
Krumm2015 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
ASH1L     M16163chr1:
155451028-155451028
AGexonicPaternalnonsynonymous SNVNM_018489c.T1633Cp.S545P17.024.121E-5Wang2016 T
ASH1L     2-0309-005chr1:
155440695-155440695
TCintronicDe novo--Yuen2017 G
ASH1L     08C76677chr1:
155429592-155429592
TTGexonicDe novoframeshift insertionNM_018489c.5081dupCp.S1694fs--Satterstrom2020 E
ASH1L     GX0008.p1chr1:
155448109-155448109
TCexonicMaternalnonsynonymous SNVNM_018489c.A4552Gp.R1518G14.522.471E-5Guo2018 T
ASH1L     HN0095.p1chr1:
155448078-155448078
TCexonicMaternalnonsynonymous SNVNM_018489c.A4583Gp.Y1528C18.018.237E-5Guo2018 T
ASH1L     M26870chr1:
155408629-155408629
CAexonicUnknownnonsynonymous SNVNM_018489c.G5317Tp.D1773Y18.11-Wang2016 T
ASH1L     GX0271.p1chr1:
155449621-155449621
CTexonicMaternalnonsynonymous SNVNM_018489c.G3040Ap.V1014M15.868.275E-6Guo2018 T
ASH1L     HN0070.p1chr1:
155448565-155448565
TCexonicMaternalnonsynonymous SNVNM_018489c.A4096Gp.M1366V6.549-Guo2018 T
ASH1L     M8118chr1:
155451888-155451888
CTexonicUnknownnonsynonymous SNVNM_018489c.G773Ap.G258D12.67-Wang2016 T
ASH1L     GX0290.p1chr1:
155327116-155327116
TCexonicMaternalnonsynonymous SNVNM_018489c.A7046Gp.N2349S22.51.648E-5Guo2018 T
ASH1L     GX0130.p1chr1:
155308042-155308042
GAexonicMaternalnonsynonymous SNVNM_018489c.C8641Tp.R2881W12.244.942E-5Guo2018 T
ASH1L     M19690chr1:
155451197-155451197
ACexonicPaternalnonsynonymous SNVNM_018489c.T1464Gp.I488M11.05-Wang2016 T
ASH1L     GX0329.p1chr1:
155450742-155450742
TCexonicMaternalnonsynonymous SNVNM_018489c.A1919Gp.H640R13.44-Guo2018 T
ASH1L     HN0036.p1chr1:
155450475-155450475
CTexonicMaternalnonsynonymous SNVNM_018489c.G2186Ap.R729Q12.873.313E-5Guo2018 T
ASH1L     05C48774chr1:
155385712-155385712
ACexonicDe novononsynonymous SNVNM_018489c.T5831Gp.F1944C20.1-Satterstrom2020 E
ASH1L     AU3874301chr1:
155444769-155444777
TTAATATAATTAAintronicDe novo--Yuen2017 G
ASH1L     GX0392.p1chr1:
155311845-155311845
CTexonicMaternalnonsynonymous SNVNM_018489c.G8342Ap.R2781Q36.0-Guo2018 T
Wang2020 T
Wang2020 T
ASH1L     61190913chr1:
155327420-155327420
GAexonicUnknown, Paternalnonsynonymous SNVNM_018489c.C6916Tp.R2306W21.76.59E-5Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
ASH1L     M20709chr1:
155491090-155491090
GAexonicMaternalnonsynonymous SNVNM_018489c.C221Tp.S74L35.08.239E-6Wang2016 T
ASH1L     AU4392302chr1:
155343712-155343712
GAintronicDe novo--Yuen2017 G
ASH1L     GX0217.p1chr1:
155408202-155408202
TCexonicDe novononsynonymous SNVNM_018489c.A5744Gp.K1915R21.68.318E-6Guo2018 T
ASH1L     M17685chr1:
155448115-155448115
GAexonicUnknown, Paternalnonsynonymous SNVNM_018489c.C4546Tp.R1516C19.09-Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
ASH1L     M23185chr1:
155349842-155349842
GCexonicUnknown, Paternalnonsynonymous SNVNM_018489c.C6169Gp.H2057D27.1-Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
ASH1L     211-5659-3chr1:
155448901-155448901
GAexonicUnknownnonsynonymous SNVNM_018489c.C3760Tp.R1254C18.175.773E-5Wang2020 T
ASH1L     B2M9Fchr1:
155448901-155448901
GAexonicUnknownnonsynonymous SNVNM_018489c.C3760Tp.R1254C18.175.773E-5Wang2020 T
ASH1L     HEN426.p1chr1:
155447791-155447791
GAexonicUnknownnonsynonymous SNVNM_018489c.C4870Tp.R1624W18.498.24E-6Wang2020 T
Wang2020 T
Wang2020 T
ASH1L     138.03chr1:
155311773-155311773
GAexonicUnknownnonsynonymous SNVNM_018489c.C8414Tp.A2805V36.08.236E-6Wang2020 T
Wang2020 T
ASH1L     SX0048.p1chr1:
155322565-155322565
TCexonicUnknownnonsynonymous SNVNM_018489c.A7298Gp.E2433G32.0-Wang2020 T
Wang2020 T
ASH1L     M20632chr1:
155448078-155448078
TCexonicPaternalnonsynonymous SNVNM_018489c.A4583Gp.Y1528C18.018.237E-5Guo2018 T
Wang2016 T
ASH1L     210-18226-301chr1:
155408787-155408787
CTexonicUnknownnonsynonymous SNVNM_018489c.G5159Ap.R1720Q28.61.649E-5Wang2020 T
ASH1L     00045-B3L5Jchr1:
155317652-155317652
CTexonicUnknownnonsynonymous SNVNM_018489c.G7598Ap.R2533H35.01.0E-4Wang2020 T
Wang2020 T
ASH1L     M23104chr1:
155451147-155451147
CTexonicPaternalnonsynonymous SNVNM_018489c.G1514Ap.S505N11.07-Guo2018 T
Wang2016 T
ASH1L     07C62594chr1:
155308162-155308162
GAexonicUnknownnonsynonymous SNVNM_018489c.C8521Tp.R2841C17.043.299E-5Wang2020 T
Wang2020 T
ASH1L     00597-N8S6Qchr1:
155317646-155317646
CTexonicUnknownnonsynonymous SNVNM_018489c.G7604Ap.R2535Q36.07.413E-5Wang2020 T
Wang2020 T
ASH1L     M17643chr1:
155448300-155448300
GCexonicUnknownnonsynonymous SNVNM_018489c.C4361Gp.T1454R17.073.0E-4Wang2016 T
ASH1L     M17668chr1:
155327441-155327441
CTexonicPaternalnonsynonymous SNVNM_018489c.G6895Ap.A2299T9.0058.237E-6Guo2018 T
Wang2016 T
ASH1L     210-18226-303chr1:
155408787-155408787
CTexonicUnknownnonsynonymous SNVNM_018489c.G5159Ap.R1720Q28.61.649E-5Wang2020 T
ASH1L     07C62595chr1:
155308162-155308162
GAexonicUnknownnonsynonymous SNVNM_018489c.C8521Tp.R2841C17.043.299E-5Wang2020 T
Wang2020 T
ASH1L     M27857chr1:
155490913-155490913
TCexonicPaternalnonsynonymous SNVNM_018489c.A398Gp.N133S19.18-Guo2018 T
Wang2016 T
ASH1L     83578112chr1:
155408499-155408499
AATexonicUnknownframeshift insertionNM_018489c.5446dupAp.I1816fs--Wang2020 T
Wang2020 T
ASH1L     AU4067301chr1:
155324744-155324744
TCintronicDe novo--Yuen2017 G
ASH1L     P2S8Zchr1:
155448057-155448057
CAexonicUnknownnonsynonymous SNVNM_018489c.G4604Tp.R1535L16.658.237E-6Stessman2017 T
Wang2020 T
Wang2020 T
ASH1L     M17563chr1:
155448076-155448076
TGexonicMaternalnonsynonymous SNVNM_018489c.A4585Cp.K1529Q19.84-Guo2018 T
Wang2016 T
ASH1L     M19723chr1:
155308057-155308057
GCexonicPaternalnonsynonymous SNVNM_018489c.C8626Gp.L2876V11.48-Guo2018 T
Wang2016 T
ASH1L     1-0627-003chr1:
155377184-155377184
TCintronicDe novo--Yuen2017 G
ASH1L     M17697chr1:
155491173-155491173
TGexonicPaternalnonsynonymous SNVNM_018489c.A138Cp.E46D20.7-Guo2018 T
Wang2016 T
ASH1L     M03973chr1:
155491090-155491090
GAexonicDe novononsynonymous SNVNM_018489c.C221Tp.S74L35.08.239E-6Stessman2017 T
Wang2016 T
ASH1L     AU1995302chr1:
155423219-155423219
TCintronicDe novo--Yuen2017 G
ASH1L     3-0140-000chr1:
155324288-155324288
GAexonicDe novostopgainNM_018489c.C7189Tp.R2397X51.0-Tammimies2015 E
Tammimies2015 E
Wang2020 T
Yuen2017 G
ASH1L     M32295chr1:
155451759-155451759
TCexonicUnknownnonsynonymous SNVNM_018489c.A902Gp.N301S9.154-Guo2018 T
ASH1L     175654 Complex Event; expand row to view variants  Unknown, Inheritedframeshift deletionNM_018489
NM_018489
c.6246delC
c.6247delC
p.P2082fs
p.L2083fs
--Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
ASH1L     GX0274.p1chr1:
155449633-155449633
TCexonicUnknownnonsynonymous SNVNM_018489c.A3028Gp.N1010D14.17-Guo2018 T
ASH1L     304.03chr1:
155490889-155490889
AGsplicingUnknownsplicing18.41-Wang2020 T
Wang2020 T
ASH1L     SD0077.p1chr1:
155408676-155408676
CTexonicMaternalnonsynonymous SNVNM_018489c.G5270Ap.R1757Q17.488.236E-6Guo2018 T
ASH1L     GX0538.p1chr1:
155324419-155324419
TGexonicMaternalnonsynonymous SNVNM_018489c.A7058Cp.N2353T18.744.156E-5Guo2018 T
ASH1L     HEN0281.p1chr1:
155447943-155447943
GAexonicMaternalnonsynonymous SNVNM_018489c.C4718Tp.T1573I14.633.297E-5Guo2018 T
ASH1L     SX0005.p1chr1:
155447814-155447814
AGexonicMaternalnonsynonymous SNVNM_018489c.T4847Cp.V1616A16.74-Guo2018 T
ASH1L     HN0148.p1chr1:
155309150-155309150
CTexonicMaternalnonsynonymous SNVNM_018489c.G8470Ap.V2824I19.412.471E-5Guo2018 T
ASH1L     M02793chr1:
155348166-155348166
CTexonicUnknownnonsynonymous SNVNM_018489c.G6238Ap.V2080I35.06.589E-5Wang2016 T
Wang2020 T
Wang2020 T
Wang2020 T
ASH1L     284743chr1:
155307459-155307459
GAexonicUnknownstopgainNM_018489c.C8887Tp.R2963X52.08.239E-5Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
ASH1L     AU1698302chr1:
155318429-155318429
CGintronicDe novo--Yuen2017 G
ASH1L     194_2_a.2.1chr1:
155313212-155313212
CTexonicUnknownnonsynonymous SNVNM_018489c.G8186Ap.R2729H35.0-Wang2020 T
ASH1L     HEN0334.p1chr1:
155452104-155452104
GAexonicMaternalnonsynonymous SNVNM_018489c.C557Tp.A186V13.53-Guo2018 T
ASH1L     SD0073.p1chr1:
155450469-155450469
GCexonicMaternalnonsynonymous SNVNM_018489c.C2192Gp.P731R12.858.28E-6Guo2018 T
ASH1L     BK_585.01chr1:
155317505-155317505
CTexonicUnknownnonsynonymous SNVNM_018489c.G7745Ap.R2582H36.08.236E-6Wang2020 T
Wang2020 T
ASH1L     SD0008.p1chr1:
155491136-155491136
CTexonicMaternalnonsynonymous SNVNM_018489c.G175Ap.E59K17.54-Guo2018 T
ASH1L     DEASD_0085_001chr1:
155448915-155448917
TTATexonicDe novoframeshift deletionNM_018489c.3744_3745delp.H1248fs--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
ASH1L     09C84843chr1:
155451844-155451844
TAexonicDe novostopgainNM_018489c.A817Tp.K273X39.0-Satterstrom2020 E
ASH1L     M20600chr1:
155451250-155451250
GAexonicMaternalnonsynonymous SNVNM_018489c.C1411Tp.R471W15.993.312E-5Guo2018 T
Wang2016 T
ASH1L     M15039chr1:
155316175-155316175
CGexonicInherited, Paternalnonsynonymous SNVNM_018489c.G7889Cp.R2630T36.0-Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
ASH1L     M16095chr1:
155330150-155330150
GAexonicMaternalnonsynonymous SNVNM_018489c.C6737Tp.P2246L15.537.421E-5Guo2018 T
Wang2016 T
ASH1L     01030-X5Q6Fchr1:
155447791-155447791
GAexonicUnknownnonsynonymous SNVNM_018489c.C4870Tp.R1624W18.498.24E-6Wang2020 T
Wang2020 T
ASH1L     86190113chr1:
155311728-155311728
GAexonicUnknownnonsynonymous SNVNM_018489c.C8459Tp.S2820L33.03.296E-5Wang2020 T
Wang2020 T
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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