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Results for "POGZ"

Variant Events: 121

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
POGZ     M12417chr1:
151381291-151381291
TGexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A1655C
c.A1781C
c.A1754C
c.A1913C
c.A1940C
p.Y552S
p.Y594S
p.Y585S
p.Y638S
p.Y647S
17.21-Guo2018 T
Wang2016 T
Zhao2019 T
POGZ     M20743chr1:
151396002-151396002
CTexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G1264A
c.G1390A
c.G1363A
c.G1522A
c.G1549A
p.V422I
p.V464I
p.V455I
p.V508I
p.V517I
22.38.238E-6Zhao2019 T
POGZ     M02393chr1:
151381253-151381253
TCexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A1693G
c.A1819G
c.A1792G
c.A1951G
c.A1978G
p.K565E
p.K607E
p.K598E
p.K651E
p.K660E
25.2-Zhao2019 T
POGZ     GX0284.p1chr1:
151381283-151381283
TGexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A1663C
c.A1789C
c.A1762C
c.A1921C
c.A1948C
p.N555H
p.N597H
p.N588H
p.N641H
p.N650H
22.1-Guo2018 T
Zhao2019 T
POGZ     HEN0353.p1chr1:
151396521-151396521
CTexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G1142A
c.G1268A
c.G1241A
c.G1400A
c.G1427A
p.R381Q
p.R423Q
p.R414Q
p.R467Q
p.R476Q
18.543.295E-5Guo2018 T
Zhao2019 T
POGZ     M21662chr1:
151396522-151396522
GAexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C1141T
c.C1267T
c.C1240T
c.C1399T
c.C1426T
p.R381W
p.R423W
p.R414W
p.R467W
p.R476W
19.534.118E-5Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
Zhao2019 T
POGZ     M21656chr1:
151396503-151396503
GCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C1160G
c.C1286G
c.C1259G
c.C1418G
c.C1445G
p.A387G
p.A429G
p.A420G
p.A473G
p.A482G
13.35-Guo2018 T
Wang2016 T
Zhao2019 T
POGZ     M08828chr1:
151396521-151396521
CTexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G1142A
c.G1268A
c.G1241A
c.G1400A
c.G1427A
p.R381Q
p.R423Q
p.R414Q
p.R467Q
p.R476Q
18.543.295E-5Guo2018 T
Wang2016 T
Zhao2019 T
POGZ     M19587chr1:
151396630-151396630
GCexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C1033G
c.C1159G
c.C1132G
c.C1291G
c.C1318G
p.P345A
p.P387A
p.P378A
p.P431A
p.P440A
18.32-Zhao2019 T
POGZ     M02213chr1:
151400305-151400305
TCexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A787G
c.A913G
c.A886G
c.A1045G
c.A1072G
p.M263V
p.M305V
p.M296V
p.M349V
p.M358V
6.026.331E-5Zhao2019 T
POGZ     M23749chr1:
151396573-151396573
CTexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G1090A
c.G1216A
c.G1189A
c.G1348A
c.G1375A
p.D364N
p.D406N
p.D397N
p.D450N
p.D459N
33.0-Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
Zhao2019 T
POGZ     M17431chr1:
151396573-151396573
CTexonicUnknown, Paternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G1090A
c.G1216A
c.G1189A
c.G1348A
c.G1375A
p.D364N
p.D406N
p.D397N
p.D450N
p.D459N
33.0-Guo2018 T
Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
Wang2020 T
Zhao2019 T
POGZ     GX0440.p1chr1:
151400435-151400435
GCexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C657G
c.C783G
c.C756G
c.C915G
c.C942G
p.S219R
p.S261R
p.S252R
p.S305R
p.S314R
14.988.238E-6Guo2018 T
Zhao2019 T
POGZ     HN0069.p1chr1:
151400475-151400475
AGexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.T617C
c.T743C
c.T716C
c.T875C
c.T902C
p.F206S
p.F248S
p.F239S
p.F292S
p.F301S
14.29-Zhao2019 T
POGZ     M08871chr1:
151400407-151400407
GCexonicUnknown, Paternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C685G
c.C811G
c.C784G
c.C943G
c.C970G
p.L229V
p.L271V
p.L262V
p.L315V
p.L324V
10.45-Wang2016 T
Zhao2019 T
POGZ     GX0164.p1chr1:
151400435-151400435
GCexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C657G
c.C783G
c.C756G
c.C915G
c.C942G
p.S219R
p.S261R
p.S252R
p.S305R
p.S314R
14.988.238E-6Guo2018 T
Zhao2019 T
POGZ     GX0532.p1chr1:
151400628-151400628
TCexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A545G
c.A671G
c.A671G
c.A830G
c.A830G
p.Q182R
p.Q224R
p.Q224R
p.Q277R
p.Q277R
20.34.118E-5Guo2018 T
Zhao2019 T
POGZ     M21552chr1:
151379747-151379747
CTexonicUnknown, De novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2111A
c.G2237A
c.G2210A
c.G2369A
c.G2396A
p.S704N
p.S746N
p.S737N
p.S790N
p.S799N
32.0-Guo2018 T
Li2017 T
Stessman2017 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
POGZ     SD0063.p1chr1:
151400628-151400628
TCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A545G
c.A671G
c.A671G
c.A830G
c.A830G
p.Q182R
p.Q224R
p.Q224R
p.Q277R
p.Q277R
20.34.118E-5Guo2018 T
Zhao2019 T
POGZ     M08437chr1:
151400517-151400517
GAexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_015100
c.C575T
c.C701T
c.C860T
p.A192V
p.A234V
p.A287V
14.1-Guo2018 T
Wang2016 T
Zhao2019 T
POGZ     GX0311.p1chr1:
151400628-151400628
TCexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A545G
c.A671G
c.A671G
c.A830G
c.A830G
p.Q182R
p.Q224R
p.Q224R
p.Q277R
p.Q277R
20.34.118E-5Guo2018 T
Zhao2019 T
POGZ     GX0567.p1chr1:
151400709-151400709
TCexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A464G
c.A590G
c.A590G
c.A749G
c.A749G
p.K155R
p.K197R
p.K197R
p.K250R
p.K250R
17.3-Guo2018 T
Zhao2019 T
POGZ     GX0486.p1chr1:
151400833-151400833
TAexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A340T
c.A466T
c.A466T
c.A625T
c.A625T
p.M114L
p.M156L
p.M156L
p.M209L
p.M209L
12.38-Guo2018 T
Zhao2019 T
POGZ     M02493 Complex Event; expand row to view variants  Maternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C509G
c.C635G
c.C635G
c.C794G
c.C794G
p.T170S
p.T212S
p.T212S
p.T265S
p.T265S
14.62-Guo2018 T
Zhao2019 T
POGZ     1-0025-006chr1:
151375732-151375732
AGUTR3De novo--Yuen2017 G
POGZ     M30907chr1:
151400701-151400701
GAexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C472T
c.C598T
c.C598T
c.C757T
c.C757T
p.P158S
p.P200S
p.P200S
p.P253S
p.P253S
17.14-Zhao2019 T
POGZ     M30922chr1:
151403298-151403298
CAexonicMaternalnonsynonymous SNVNM_207171
NM_001194938
NM_001194937
NM_015100
c.G144T
c.G144T
c.G303T
c.G303T
p.Q48H
p.Q48H
p.Q101H
p.Q101H
15.75-Zhao2019 T
POGZ     M26892chr1:
151413415-151413415
GTexonicUnknownnonsynonymous SNVNM_001194937
NM_015100
NM_145796
c.C272A
c.C272A
c.C272A
p.A91D
p.A91D
p.A91D
23.5-Zhao2019 T
POGZ     GX0471.p1chr1:
151402148-151402148
TCexonicMaternalnonsynonymous SNVNM_207171
NM_001194938
NM_001194937
NM_015100
c.A340G
c.A340G
c.A499G
c.A499G
p.M114V
p.M114V
p.M167V
p.M167V
19.538.24E-6Guo2018 T
Zhao2019 T
POGZ     M19580chr1:
151403282-151403282
GCexonicUnknownnonsynonymous SNVNM_207171
NM_001194938
NM_001194937
NM_015100
c.C160G
c.C160G
c.C319G
c.C319G
p.L54V
p.L54V
p.L107V
p.L107V
11.62-Zhao2019 T
POGZ     M21555chr1:
151413476-151413476
CTexonicUnknownnonsynonymous SNVNM_001194937
NM_015100
NM_145796
c.G211A
c.G211A
c.G211A
p.V71I
p.V71I
p.V71I
9.074-Wang2016 T
Zhao2019 T
POGZ     M08704chr1:
151413557-151413557
CTexonicUnknownnonsynonymous SNVNM_001194937
NM_015100
NM_145796
c.G130A
c.G130A
c.G130A
p.V44M
p.V44M
p.V44M
16.558.982E-5Zhao2019 T
POGZ     M30868chr1:
151413476-151413476
CTexonicMaternalnonsynonymous SNVNM_001194937
NM_015100
NM_145796
c.G211A
c.G211A
c.G211A
p.V71I
p.V71I
p.V71I
9.074-Zhao2019 T
POGZ     GX0091.p1chr1:
151413476-151413476
CTexonicPaternalnonsynonymous SNVNM_001194937
NM_015100
NM_145796
c.G211A
c.G211A
c.G211A
p.V71I
p.V71I
p.V71I
9.074-Guo2018 T
Zhao2019 T
POGZ     2-1402-003chr1:
151384104-151384104
GCexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C1638G
c.C1764G
c.C1737G
c.C1896G
c.C1923G
p.H546Q
p.H588Q
p.H579Q
p.H632Q
p.H641Q
18.0-Wang2020 T
Zhao2019 T
POGZ     EE7chr1:
151378372-151378372
CAexonicDe novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2854T
c.G2980T
c.G2953T
c.G3112T
c.G3139T
p.E952X
p.E994X
p.E985X
p.E1038X
p.E1047X
42.0-Zhao2019 T
POGZ     EE8chr1:
151380659-151380660
AGAexonicDe novoframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.2006delC
c.2132delC
c.2105delC
c.2264delC
c.2291delC
p.P669fs
p.P711fs
p.P702fs
p.P755fs
p.P764fs
--Zhao2019 T
POGZ     Zhao2019:NAchr1:
151378393-151378393
CTexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2833A
c.G2959A
c.G2932A
c.G3091A
c.G3118A
p.E945K
p.E987K
p.E978K
p.E1031K
p.E1040K
21.3-Zhao2019 T
POGZ     EE6chr1:
151402109-151402109
GAexonicDe novostopgainNM_207171
NM_001194938
NM_001194937
NM_015100
c.C379T
c.C379T
c.C538T
c.C538T
p.Q127X
p.Q127X
p.Q180X
p.Q180X
37.0-Zhao2019 T
POGZ     2-0116-004chr1:
151411782-151411782
GCintronicDe novo--Yuen2017 G
POGZ     1-0355-003chr1:
151396465-151396465
GAexonicDe novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C1198T
c.C1324T
c.C1297T
c.C1456T
c.C1483T
p.R400X
p.R442X
p.R433X
p.R486X
p.R495X
36.0-Wang2020 T
Zhao2019 T
POGZ     EE5chr1:
151396736-151396736
GTexonicDe novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C927A
c.C1053A
c.C1026A
c.C1185A
c.C1212A
p.Y309X
p.Y351X
p.Y342X
p.Y395X
p.Y404X
36.0-Zhao2019 T
POGZ     13507.p1chr1:
151384795-151384795
CTexonicMosaic Mat.nonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G1471A
c.G1597A
c.G1570A
c.G1729A
c.G1756A
p.G491R
p.G533R
p.G524R
p.G577R
p.G586R
29.1-Dou2017 E
POGZ     210-18172-301chr1:
151380703-151380703
GAexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C1963T
c.C2089T
c.C2062T
c.C2221T
c.C2248T
p.R655W
p.R697W
p.R688W
p.R741W
p.R750W
18.84-Wang2020 T
Wang2020 T
POGZ     M8734chr1:
151378395-151378395
CTexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2831A
c.G2957A
c.G2930A
c.G3089A
c.G3116A
p.R944H
p.R986H
p.R977H
p.R1030H
p.R1039H
19.54.119E-5Wang2020 T
Wang2020 T
Wang2020 T
POGZ     12854.p1chr1:
151378253-151378253
CTexonicDe novosynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2973A
c.G3099A
c.G3072A
c.G3231A
c.G3258A
p.R991R
p.R1033R
p.R1024R
p.R1077R
p.R1086R
--Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
POGZ     13627.p1chr1:
151378489-151378489
GAexonicDe novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C2737T
c.C2863T
c.C2836T
c.C2995T
c.C3022T
p.R913X
p.R955X
p.R946X
p.R999X
p.R1008X
41.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Zhao2019 T
POGZ     ASD-817chr1:
151397435-151397438
ATGTGGexonicDe novoframeshift substitutionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.893_896CC
c.1019_1022CC
c.992_995CC
c.1151_1154CC
c.1178_1181CC
N/A
N/A
N/A
N/A
N/A
--Du2018 E
POGZ     14551.p1chr1:
151384237-151384237
TCexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A1505G
c.A1631G
c.A1604G
c.A1763G
c.A1790G
p.Y502C
p.Y544C
p.Y535C
p.Y588C
p.Y597C
16.85-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhao2019 T
POGZ     14483.p1chr1:
151400436-151400436
CTexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G656A
c.G782A
c.G755A
c.G914A
c.G941A
p.S219N
p.S261N
p.S252N
p.S305N
p.S314N
13.87-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhao2019 T
POGZ     1-0458-005chr1:
151467905-151467905
GAintergenicDe novo--Yuen2017 G
POGZ     M21483chr1:
151400701-151400701
GAexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C472T
c.C598T
c.C598T
c.C757T
c.C757T
p.P158S
p.P200S
p.P200S
p.P253S
p.P253S
17.14-Wang2016 T
POGZ     210-18172-302chr1:
151380703-151380703
GAexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C1963T
c.C2089T
c.C2062T
c.C2221T
c.C2248T
p.R655W
p.R697W
p.R688W
p.R741W
p.R750W
18.84-Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
POGZ     70146436chr1:
151402166-151402166
GAexonicUnknownnonsynonymous SNVNM_207171
NM_001194938
NM_001194937
NM_015100
c.C322T
c.C322T
c.C481T
c.C481T
p.R108W
p.R108W
p.R161W
p.R161W
22.4-Wang2020 T
Wang2020 T
POGZ     13398.p1 Complex Event; expand row to view variants  De novoframeshift insertion, stopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
NM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.3322_3323insTGATGACG
c.3448_3449insTGATGACG
c.3421_3422insTGATGACG
c.3580_3581insTGATGACG
c.3607_3608insTGATGACG
c.3321_3322insTGATGACG
c.3447_3448insTGATGACG
c.3420_3421insTGATGACG
c.3579_3580insTGATGACG
c.3606_3607insTGATGACG
p.E1108fs
p.E1150fs
p.E1141fs
p.E1194fs
p.E1203fs
p.E1108_I1109delinsX
p.E1150_I1151delinsX
p.E1141_I1142delinsX
p.E1194_I1195delinsX
p.E1203_I1204delinsX
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhao2019 T
POGZ     Mahjani2021:7chr1:
151378053-151378055
CCTCexonicframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.3171_3172del
c.3297_3298del
c.3270_3271del
c.3429_3430del
c.3456_3457del
p.T1057fs
p.T1099fs
p.T1090fs
p.T1143fs
p.T1152fs
--Mahjani2021 E
POGZ     AU3175303chr1:
151434496-151434496
TCintergenicDe novo--Yuen2017 G
POGZ     211-5353-3chr1:
151395887-151395887
GAexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C1379T
c.C1505T
c.C1478T
c.C1637T
c.C1664T
p.P460L
p.P502L
p.P493L
p.P546L
p.P555L
24.6-Stessman2017 T
Wang2020 T
Wang2020 T
POGZ     Mahjani2021:2chr1:
151377821-151377822
ACAexonicframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.3404delG
c.3530delG
c.3503delG
c.3662delG
c.3689delG
p.C1135fs
p.C1177fs
p.C1168fs
p.C1221fs
p.C1230fs
--Mahjani2021 E
POGZ     563.03chr1:
151378489-151378489
GAexonicUnknown, De novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C2737T
c.C2863T
c.C2836T
c.C2995T
c.C3022T
p.R913X
p.R955X
p.R946X
p.R999X
p.R1008X
41.0-Wang2020 T
Wang2020 T
POGZ     Mahjani2021:8chr1:
151378522-151378522
GAexonicstopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C2704T
c.C2830T
c.C2803T
c.C2962T
c.C2989T
p.R902X
p.R944X
p.R935X
p.R988X
p.R997X
41.0-Mahjani2021 E
POGZ     Mahjani2021:11chr1:
151396443-151396444
CTCexonicframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.1219delA
c.1345delA
c.1318delA
c.1477delA
c.1504delA
p.R407fs
p.R449fs
p.R440fs
p.R493fs
p.R502fs
--Mahjani2021 E
POGZ     Mahjani2021:10chr1:
151395971-151395971
TCexonicnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A1295G
c.A1421G
c.A1394G
c.A1553G
c.A1580G
p.D432G
p.D474G
p.D465G
p.D518G
p.D527G
28.6-Mahjani2021 E
POGZ     JASD_Fam0054chr1:
151378393-151378393
CTexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2833A
c.G2959A
c.G2932A
c.G3091A
c.G3118A
p.E945K
p.E987K
p.E978K
p.E1031K
p.E1040K
21.3-Takata2018 E
POGZ     M19813chr1:
151402109-151402109
GAexonicDe novostopgainNM_207171
NM_001194938
NM_001194937
NM_015100
c.C379T
c.C379T
c.C538T
c.C538T
p.Q127X
p.Q127X
p.Q180X
p.Q180X
37.0-Guo2018 T
Stessman2017 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
POGZ     1684001chr1:
151380626-151380630
CAGAGCexonicDe novoframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.2036_2039del
c.2162_2165del
c.2135_2138del
c.2294_2297del
c.2321_2324del
p.S679fs
p.S721fs
p.S712fs
p.S765fs
p.S774fs
--Satterstrom2020 E
POGZ     M23639chr1:
151379390-151379390
GAexonicUnknown, Maternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C2257T
c.C2383T
c.C2356T
c.C2515T
c.C2542T
p.R753W
p.R795W
p.R786W
p.R839W
p.R848W
25.98.265E-6Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
Zhao2019 T
POGZ     80001103266chr1:
151378053-151378055
CCTCexonicDe novoframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.3171_3172del
c.3297_3298del
c.3270_3271del
c.3429_3430del
c.3456_3457del
p.T1057fs
p.T1099fs
p.T1090fs
p.T1143fs
p.T1152fs
--Satterstrom2020 E
POGZ     215-13144-1613chr1:
151396736-151396736
GTexonicDe novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C927A
c.C1053A
c.C1026A
c.C1185A
c.C1212A
p.Y309X
p.Y351X
p.Y342X
p.Y395X
p.Y404X
36.0-Stessman2017 T
Stessman2017 T
Wang2020 T
Wang2020 T
POGZ     SP0042394chr1:
151378053-151378055
CCTCexonicDe novoframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.3171_3172del
c.3297_3298del
c.3270_3271del
c.3429_3430del
c.3456_3457del
p.T1057fs
p.T1099fs
p.T1090fs
p.T1143fs
p.T1152fs
--Feliciano2019 E
POGZ     SF0003304.p1chr1:
151379749-151379749
CCTexonicDe novoframeshift insertionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.2108dupA
c.2234dupA
c.2207dupA
c.2366dupA
c.2393dupA
p.K703fs
p.K745fs
p.K736fs
p.K789fs
p.K798fs
--Wang2020 T
POGZ     SF0147634.p1chr1:
151378489-151378489
GAexonicDe novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C2737T
c.C2863T
c.C2836T
c.C2995T
c.C3022T
p.R913X
p.R955X
p.R946X
p.R999X
p.R1008X
41.0-Wang2020 T
POGZ     03C16571chr1:
151395941-151395941
CTexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G1325A
c.G1451A
c.G1424A
c.G1583A
c.G1610A
p.R442H
p.R484H
p.R475H
p.R528H
p.R537H
35.0-Stessman2017 T
Wang2020 T
Wang2020 T
POGZ     SF0054512.p2chr1:
151381039-151381039
GAexonicDe novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C1795T
c.C1921T
c.C1894T
c.C2053T
c.C2080T
p.R599X
p.R641X
p.R632X
p.R685X
p.R694X
39.0-Wang2020 T
POGZ     SF0054512.p1chr1:
151381039-151381039
GAexonicDe novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C1795T
c.C1921T
c.C1894T
c.C2053T
c.C2080T
p.R599X
p.R641X
p.R632X
p.R685X
p.R694X
39.0-Wang2020 T
POGZ     2-1210-003chr1:
151382386-151382386
TGintronicDe novo--Yuen2017 G
POGZ     SF0053415.p1chr1:
151397434-151397436
CATCexonicDe novoframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.895_896del
c.1021_1022del
c.994_995del
c.1153_1154del
c.1180_1181del
p.M299fs
p.M341fs
p.M332fs
p.M385fs
p.M394fs
--Wang2020 T
POGZ     SF0044746.p1chr1:
151384235-151384235
GCexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C1507G
c.C1633G
c.C1606G
c.C1765G
c.C1792G
p.R503G
p.R545G
p.R536G
p.R589G
p.R598G
20.9-Wang2020 T
POGZ     80001102176chr1:
151377821-151377822
ACAexonicDe novoframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.3404delG
c.3530delG
c.3503delG
c.3662delG
c.3689delG
p.C1135fs
p.C1177fs
p.C1168fs
p.C1221fs
p.C1230fs
--Satterstrom2020 E
POGZ     61678835chr1:
151380947-151380947
AAGexonicUnknownframeshift insertionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.1886dupC
c.2012dupC
c.1985dupC
c.2144dupC
c.2171dupC
p.P629fs
p.P671fs
p.P662fs
p.P715fs
p.P724fs
--Wang2020 T
Wang2020 T
POGZ     Li2017:19813chr1:
151402109-151402109
GAexonicDe novostopgainNM_207171
NM_001194938
NM_001194937
NM_015100
c.C379T
c.C379T
c.C538T
c.C538T
p.Q127X
p.Q127X
p.Q180X
p.Q180X
37.0-Li2017 T
POGZ     61525374chr1:
151379739-151379740
ACAexonicUnknownframeshift deletionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.2118delG
c.2244delG
c.2217delG
c.2376delG
c.2403delG
p.K706fs
p.K748fs
p.K739fs
p.K792fs
p.K801fs
--Wang2020 T
Wang2020 T
POGZ     85165553chr1:
151378087-151378087
GAexonicUnknownstopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C3139T
c.C3265T
c.C3238T
c.C3397T
c.C3424T
p.R1047X
p.R1089X
p.R1080X
p.R1133X
p.R1142X
41.0-Wang2020 T
Wang2020 T
POGZ     M19757chr1:
151377304-151377304
CTexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G3922A
c.G4048A
c.G4021A
c.G4180A
c.G4207A
p.A1308T
p.A1350T
p.A1341T
p.A1394T
p.A1403T
14.31-Guo2018 T
Wang2016 T
Zhao2019 T
POGZ     HN0041.p1chr1:
151377469-151377469
CGexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G3757C
c.G3883C
c.G3856C
c.G4015C
c.G4042C
p.E1253Q
p.E1295Q
p.E1286Q
p.E1339Q
p.E1348Q
19.388.238E-6Zhao2019 T
POGZ     HEN0014.p1chr1:
151377631-151377631
AGexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.T3595C
c.T3721C
c.T3694C
c.T3853C
c.T3880C
p.S1199P
p.S1241P
p.S1232P
p.S1285P
p.S1294P
13.24-Guo2018 T
Zhao2019 T
POGZ     M16111chr1:
151377379-151377379
TGexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3847C
c.A3973C
c.A3946C
c.A4105C
c.A4132C
p.T1283P
p.T1325P
p.T1316P
p.T1369P
p.T1378P
9.951-Guo2018 T
Zhao2019 T
POGZ     M23646chr1:
151377422-151377422
ACexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.T3804G
c.T3930G
c.T3903G
c.T4062G
c.T4089G
p.H1268Q
p.H1310Q
p.H1301Q
p.H1354Q
p.H1363Q
0.0150.0014Zhao2019 T
POGZ     M08095chr1:
151377739-151377739
TAexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3487T
c.A3613T
c.A3586T
c.A3745T
c.A3772T
p.S1163C
p.S1205C
p.S1196C
p.S1249C
p.S1258C
13.22-Zhao2019 T
POGZ     M20274chr1:
151377852-151377852
TCexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G
p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R
15.534.951E-5Wang2016 T
Zhao2019 T
POGZ     M26851chr1:
151377705-151377705
TCexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3521G
c.A3647G
c.A3620G
c.A3779G
c.A3806G
p.K1174R
p.K1216R
p.K1207R
p.K1260R
p.K1269R
13.37-Zhao2019 T
POGZ     M26786chr1:
151377709-151377709
TCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3517G
c.A3643G
c.A3616G
c.A3775G
c.A3802G
p.I1173V
p.I1215V
p.I1206V
p.I1259V
p.I1268V
12.04-Guo2018 T
Wang2016 T
Zhao2019 T
POGZ     10C102646chr1:
151379469-151379469
GGGTACexonicDe novoframeshift insertionNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.2177_2178insGTAC
c.2303_2304insGTAC
c.2276_2277insGTAC
c.2435_2436insGTAC
c.2462_2463insGTAC
p.T726fs
p.T768fs
p.T759fs
p.T812fs
p.T821fs
--DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Wang2020 T
Willsey2013 E
Zhao2019 T
POGZ     GX0128.p1chr1:
151377852-151377852
TCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G
p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R
15.534.951E-5Zhao2019 T
POGZ     M21572chr1:
151377852-151377852
TCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G
p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R
15.534.951E-5Zhao2019 T
POGZ     GX0276.p1chr1:
151377852-151377852
TCexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G
p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R
15.534.951E-5Zhao2019 T
POGZ     GX0294.p1chr1:
151377852-151377852
TCexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G
p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R
15.534.951E-5Zhao2019 T
POGZ     M32125chr1:
151377904-151377904
CTexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G3322A
c.G3448A
c.G3421A
c.G3580A
c.G3607A
p.E1108K
p.E1150K
p.E1141K
p.E1194K
p.E1203K
18.172.474E-5Zhao2019 T
POGZ     M03783chr1:
151377952-151377952
GAexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C3274T
c.C3400T
c.C3373T
c.C3532T
c.C3559T
p.P1092S
p.P1134S
p.P1125S
p.P1178S
p.P1187S
16.312.471E-5Zhao2019 T
POGZ     HN0070.p1chr1:
151377852-151377852
TCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G
p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R
15.534.951E-5Zhao2019 T
POGZ     GX0179.p1chr1:
151377852-151377852
TCexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3374G
c.A3500G
c.A3473G
c.A3632G
c.A3659G
p.Q1125R
p.Q1167R
p.Q1158R
p.Q1211R
p.Q1220R
15.534.951E-5Zhao2019 T
POGZ     M08512chr1:
151378168-151378168
GCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C3058G
c.C3184G
c.C3157G
c.C3316G
c.C3343G
p.Q1020E
p.Q1062E
p.Q1053E
p.Q1106E
p.Q1115E
15.215.766E-5Wang2016 T
Zhao2019 T
POGZ     HEN0293.p1chr1:
151378168-151378168
GCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C3058G
c.C3184G
c.C3157G
c.C3316G
c.C3343G
p.Q1020E
p.Q1062E
p.Q1053E
p.Q1106E
p.Q1115E
15.215.766E-5Zhao2019 T
POGZ     219-2320-0001chr1:
151381250-151381250
CTexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G1696A
c.G1822A
c.G1795A
c.G1954A
c.G1981A
p.D566N
p.D608N
p.D599N
p.D652N
p.D661N
33.0-Stessman2017 T
Wang2020 T
Wang2020 T
POGZ     M08079chr1:
151378123-151378123
ACexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.T3103G
c.T3229G
c.T3202G
c.T3361G
c.T3388G
p.L1035V
p.L1077V
p.L1068V
p.L1121V
p.L1130V
1.979-Guo2018 T
Wang2016 T
Zhao2019 T
POGZ     GX0537.p1chr1:
151378138-151378138
TCexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A3088G
c.A3214G
c.A3187G
c.A3346G
c.A3373G
p.I1030V
p.I1072V
p.I1063V
p.I1116V
p.I1125V
2.904-Zhao2019 T
POGZ     M12393chr1:
151378168-151378168
GCexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C3058G
c.C3184G
c.C3157G
c.C3316G
c.C3343G
p.Q1020E
p.Q1062E
p.Q1053E
p.Q1106E
p.Q1115E
15.215.766E-5Zhao2019 T
POGZ     HN0067.p1chr1:
151378395-151378395
CTexonicUnknown, Maternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2831A
c.G2957A
c.G2930A
c.G3089A
c.G3116A
p.R944H
p.R986H
p.R977H
p.R1030H
p.R1039H
19.54.119E-5Wang2020 T
Wang2020 T
Zhao2019 T
POGZ     SSC08531chr1:
151378489-151378489
GAexonicDe novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C2737T
c.C2863T
c.C2836T
c.C2995T
c.C3022T
p.R913X
p.R955X
p.R946X
p.R999X
p.R1008X
41.0-Lim2017 E
POGZ     P1381chr1:
151378386-151378386
TCexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A2840G
c.A2966G
c.A2939G
c.A3098G
c.A3125G
p.Q947R
p.Q989R
p.Q980R
p.Q1033R
p.Q1042R
18.27-Hashimoto2016 E
Wang2020 T
Zhao2019 T
POGZ     M32122chr1:
151378168-151378168
GCexonicPaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C3058G
c.C3184G
c.C3157G
c.C3316G
c.C3343G
p.Q1020E
p.Q1062E
p.Q1053E
p.Q1106E
p.Q1115E
15.215.766E-5Zhao2019 T
POGZ     Lim2017:36855chr1:
151384237-151384237
TCexonicDe novononsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A1505G
c.A1631G
c.A1604G
c.A1763G
c.A1790G
p.Y502C
p.Y544C
p.Y535C
p.Y588C
p.Y597C
16.85-Lim2017 E
POGZ     M12437chr1:
151378168-151378168
GCexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C3058G
c.C3184G
c.C3157G
c.C3316G
c.C3343G
p.Q1020E
p.Q1062E
p.Q1053E
p.Q1106E
p.Q1115E
15.215.766E-5Zhao2019 T
POGZ     GX0134.p1chr1:
151378806-151378806
GAexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C2420T
c.C2546T
c.C2519T
c.C2678T
c.C2705T
p.T807I
p.T849I
p.T840I
p.T893I
p.T902I
5.976-Zhao2019 T
POGZ     HEN0280.p1chr1:
151378903-151378903
CTexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2323A
c.G2449A
c.G2422A
c.G2581A
c.G2608A
p.V775M
p.V817M
p.V808M
p.V861M
p.V870M
11.242.694E-5Guo2018 T
Zhao2019 T
POGZ     M08734chr1:
151378395-151378395
CTexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2831A
c.G2957A
c.G2930A
c.G3089A
c.G3116A
p.R944H
p.R986H
p.R977H
p.R1030H
p.R1039H
19.54.119E-5Zhao2019 T
POGZ     M20585chr1:
151378719-151378719
GAexonicUnknownnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.C2507T
c.C2633T
c.C2606T
c.C2765T
c.C2792T
p.P836L
p.P878L
p.P869L
p.P922L
p.P931L
11.555.789E-5Zhao2019 T
POGZ     M12403chr1:
151379096-151379096
TCexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.A2272G
c.A2398G
c.A2371G
c.A2530G
c.A2557G
p.I758V
p.I800V
p.I791V
p.I844V
p.I853V
12.92.485E-5Guo2018 T
Zhao2019 T
POGZ     M21572chr1:
151379747-151379747
CTexonicUnknown, Paternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2111A
c.G2237A
c.G2210A
c.G2369A
c.G2396A
p.S704N
p.S746N
p.S737N
p.S790N
p.S799N
32.0-Guo2018 T
Wang2016 T
Wang2020 T
Wang2020 T
Wang2020 T
Zhao2019 T
POGZ     HN0044.p1chr1:
151378903-151378903
CTexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2323A
c.G2449A
c.G2422A
c.G2581A
c.G2608A
p.V775M
p.V817M
p.V808M
p.V861M
p.V870M
11.242.694E-5Guo2018 T
Zhao2019 T
POGZ     M17529chr1:
151378920-151378920
CTexonicMaternalnonsynonymous SNVNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100
c.G2306A
c.G2432A
c.G2405A
c.G2564A
c.G2591A
p.R769Q
p.R811Q
p.R802Q
p.R855Q
p.R864Q
26.31.798E-5Guo2018 T
Wang2016 T
Zhao2019 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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