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Exact

Results for "Zhao2019"

Variant Events: 79

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-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-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-5Zhao2019 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-5Zhao2019 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-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-5Zhao2019 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-Zhao2019 T
POGZ     M17431chr1:
151396573-151396573		CTexonicUnknownnonsynonymous 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-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-6Zhao2019 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		GCexonicPaternalnonsynonymous 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-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-6Zhao2019 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-5Zhao2019 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-5Zhao2019 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-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-5Zhao2019 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-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-Zhao2019 T
POGZ     M02493chr1:
151400664-151400664		GCexonicMaternalnonsynonymous 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-Zhao2019 T
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     M23639chr1:
151379390-151379390		GAexonicMaternalnonsynonymous 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-6Zhao2019 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-6Zhao2019 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-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-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-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     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-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     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-Zhao2019 T
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-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-Zhao2019 T
POGZ     13398.p1chr1:
151377904-151377904		CCCGTCATCAexonicDe novostopgainNM_145796
NM_207171
NM_001194938
NM_001194937
NM_015100		c.3321_3322insTGATGACG
c.3447_3448insTGATGACG
c.3420_3421insTGATGACG
c.3579_3580insTGATGACG
c.3606_3607insTGATGACG		p.E1108_I1109delinsX
p.E1150_I1151delinsX
p.E1141_I1142delinsX
p.E1194_I1195delinsX
p.E1203_I1204delinsX		--Zhao2019 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-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-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-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-5Zhao2019 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-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		--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-5Zhao2019 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     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-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		CTexonicMaternalnonsynonymous 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     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     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-Zhao2019 T
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-5Zhao2019 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-5Zhao2019 T
POGZ     M21572chr1:
151379747-151379747		CTexonicPaternalnonsynonymous 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-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-5Zhao2019 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-5Zhao2019 T
Source Variant Information

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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
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