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Results for "PTEN"

Variant Events: 148

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
PTEN     2-0149-003chr10:
89894172-89894172		GGCTintergenicDe novo--Yuen2017 G
PTEN     Zhang2023:ASD0294chr10:
89711930-89711930		AAAexonicDe novoframeshift insertionNM_000314
NM_001304717		c.548dupA
c.1067dupA		p.K183fs
p.K356fs		--Zhang2023 G
PTEN     AU037503chr10:
89692977-89692977		TTTexonicMaternalframeshift insertionNM_000314
NM_001304717		c.461dupT
c.980dupT		p.F154fs
p.F327fs		--Zhou2019 T
PTEN     SP0125333chr10:
89692904-89692904		CTexonicDe novostopgainNM_000314
NM_001304717		c.C388T
c.C907T		p.R130X
p.R303X		48.08.237E-6Fu2022 E
Trost2022 G
Zhou2022 GE
PTEN     AU060803chr10:
89692920-89692920		TTTexonicPaternalframeshift insertionNM_000314
NM_001304717		c.404dupT
c.923dupT		p.I135fs
p.I308fs		--Zhou2019 T
PTEN     SP0025612chr10:
89685268-89685268		AGsplicingDe novosplicing17.98-Fu2022 E
Tan2024 GE
Zhou2022 GE
PTEN     SSC09614chr10:
89692790-89692790		GAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.G274A
c.G793A		p.D92N
p.D265N		33.0-Antaki2022 GE
Fu2022 E
Lim2017 E
PTEN     Wright2024:Par355chr10:
89720852-89720852		CTexonicMaternalstopgainNM_000314
NM_001304718
NM_001304717		c.C1003T
c.C412T
c.C1522T		p.R335X
p.R138X
p.R508X		48.0-Wright2024 E
PTEN     Wright2024:Par354chr10:
89720852-89720852		CTexonicUnknownstopgainNM_000314
NM_001304718
NM_001304717		c.C1003T
c.C412T
c.C1522T		p.R335X
p.R138X
p.R508X		48.0-Wright2024 E
PTEN     Lim2017:6233chr10:
89711882-89711882		CAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C500A
c.C1019A		p.T167N
p.T340N		28.6-Lim2017 E
PTEN     iHART2334chr10:
89692818-89692818		TCexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.T302C
c.T821C		p.I101T
p.I274T		23.4-Ruzzo2019 G
PTEN     AU3915301chr10:
89692961-89692961		CTexonicDe novostopgainNM_000314
NM_001304717		c.C445T
c.C964T		p.Q149X
p.Q322X		48.0-Yuen2017 G
Zhou2022 GE
PTEN     SSC11758chr10:
89692908-89692908		CTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C392T
c.C911T		p.T131I
p.T304I		27.8-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
PTEN     SP0124924chr10:
89693037-89693037		CAintronicDe novo--Fu2022 E
Tan2024 GE
PTEN     1-0139-003chr10:
89894202-89894202		CTintergenicDe novo--Yuen2017 G
PTEN     SP0101112chr10:
89712008-89712008		GTexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.G626T
c.G35T
c.G1145T		p.G209V
p.G12V
p.G382V		22.2-Fu2022 E
Trost2022 G
Zhou2022 GE
PTEN     Lob2024:ASD294chr10:
89717709-89717709		ACexonicnonsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.A734C
c.A143C
c.A1253C		p.Q245P
p.Q48P
p.Q418P		13.28-Lob2024 ET
PTEN     SP0113290chr10:
89685316-89685318		TAATintronicDe novo--Tan2024 GE
PTEN     AU0146301chr10:
89919864-89919864		TCintergenicDe novo--Yuen2017 G
PTEN     1-0579-003chr10:
89717712-89717712		CTexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.C737T
c.C146T
c.C1256T		p.P246L
p.P49L
p.P419L		19.43-Trost2022 G
Yuen2017 G
Zhou2022 GE
PTEN     1-0352-005chr10:
89949366-89949366		TAintergenicDe novo--Yuen2017 G
PTEN     Wright2024:Par802chr10:
89725063-89725070		AAACAGTAAexonicMaternalframeshift deletionNM_000314
NM_001304718
NM_001304717		c.1047_1053del
c.456_462del
c.1566_1572del		p.K349fs
p.K152fs
p.K522fs		--Wright2024 E
PTEN     Wright2024:Par1683chr10:
89624095-89624095		CTexonicUnknownstopgainNM_001304717c.C388Tp.Q130X--Wright2024 E
PTEN     08C76383chr10:
89692818-89692818		TCexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.T302C
c.T821C		p.I101T
p.I274T		23.4-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PTEN     Wright2024:Par1266chr10:
89624095-89624095		CTexonicDe novostopgainNM_001304717c.C388Tp.Q130X--Wright2024 E
PTEN     151853chr10:
89692965-89692965		AGexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.A449G
c.A968G		p.E150G
p.E323G		28.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PTEN     Wright2024:Par1694chr10:
89720852-89720852		CTexonicUnknownstopgainNM_000314
NM_001304718
NM_001304717		c.C1003T
c.C412T
c.C1522T		p.R335X
p.R138X
p.R508X		48.0-Wright2024 E
PTEN     Wright2024:Par421chr10:
89624095-89624095		CTexonicPaternalstopgainNM_001304717c.C388Tp.Q130X--Wright2024 E
PTEN     2-1296-003chr10:
89667957-89667957		GAintronicDe novo--Trost2022 G
Yuen2017 G
PTEN     Wright2024:Par1294chr10:
89720852-89720852		CTexonicUnknownstopgainNM_000314
NM_001304718
NM_001304717		c.C1003T
c.C412T
c.C1522T		p.R335X
p.R138X
p.R508X		48.0-Wright2024 E
PTEN     Wright2024:Par1293chr10:
89720852-89720852		CTexonicUnknownstopgainNM_000314
NM_001304718
NM_001304717		c.C1003T
c.C412T
c.C1522T		p.R335X
p.R138X
p.R508X		48.0-Wright2024 E
PTEN     Wright2024:Par866chr10:
89711900-89711900		GAexonicMaternalnonsynonymous SNVNM_000314
NM_001304717		c.G518A
c.G1037A		p.R173H
p.R346H		35.08.245E-6Wright2024 E
PTEN     Wright2024:Par865chr10:
89711900-89711900		GAexonicMaternalnonsynonymous SNVNM_000314
NM_001304717		c.G518A
c.G1037A		p.R173H
p.R346H		35.08.245E-6Wright2024 E
PTEN     Wright2024:Par1300chr10:
89720852-89720852		CTexonicUnknownstopgainNM_000314
NM_001304718
NM_001304717		c.C1003T
c.C412T
c.C1522T		p.R335X
p.R138X
p.R508X		48.0-Wright2024 E
PTEN     1chr10:
89717712-89717712		CTexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.C737T
c.C146T
c.C1256T		p.P246L
p.P49L
p.P419L		19.43-Du2018 E
PTEN     SP0010524chr10:
89624249-89624249		TAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.T23A
c.T542A		p.I8N
p.I181N		17.75-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
PTEN     111299chr10:
89685300-89685300		CAexonicstopgainNM_000314
NM_001304717		c.C195A
c.C714A		p.Y65X
p.Y238X		49.0-Woodbury-Smith2022 E
PTEN     SP0010765chr10:
89692940-89692940		CTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C424T
c.C943T		p.R142W
p.R315W		24.18.242E-6Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
PTEN     SP0063977chr10:
89692919-89692919		ACexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.A403C
c.A922C		p.I135L
p.I308L		29.5-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
PTEN     1-0352-003chr10:
89949366-89949366		TAintergenicDe novo--Yuen2016 G
PTEN     Wright2024:Par886chr10:
89624213-89624214		ACAexonicUnknownframeshift deletionNM_001304717c.507delCp.H169fs--Wright2024 E
PTEN     SSC00881chr10:
89711882-89711882		CAexonicnonsynonymous SNVNM_000314
NM_001304717		c.C500A
c.C1019A		p.T167N
p.T340N		28.6-Antaki2022 GE
PTEN     AN01570chr10:
89685300-89685300		CAexonicUnknownstopgainNM_000314
NM_001304717		c.C195A
c.C714A		p.Y65X
p.Y238X		49.0-D’Gama2015 T
PTEN     SP0101364chr10:
89692995-89692995		CTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C479T
c.C998T		p.T160I
p.T333I		25.9-Antaki2022 GE
Fu2022 E
Zhou2022 GE
PTEN     Wang2023:730chr10:
89711900-89711900		GTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.G518T
c.G1037T		p.R173L
p.R346L		35.0-Wang2023 E
PTEN     Wright2024:Par882chr10:
89692993-89692993		GTexonicPaternalnonsynonymous SNVNM_000314
NM_001304717		c.G477T
c.G996T		p.R159S
p.R332S		27.9-Wright2024 E
PTEN     AU066206chr10:
89990377-89990377		AGintergenicDe novo--Yuen2017 G
PTEN     Wright2024:Par90chr10:
89692940-89692940		CTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C424T
c.C943T		p.R142W
p.R315W		24.18.242E-6Wright2024 E
PTEN     Wright2024:Par84chr10:
89624249-89624249		TAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.T23A
c.T542A		p.I8N
p.I181N		17.75-Wright2024 E
PTEN     Wright2024:Par102chr10:
89690851-89690851		GAintronicUnknown--Wright2024 E
PTEN     AU4212303chr10:
89790199-89790199		CTintergenicDe novo--Yuen2017 G
PTEN     Lee2020:46chr10:
89690842-89690842		CAexonicstopgainNM_000314
NM_001304717		c.C249A
c.C768A		p.C83X
p.C256X		48.0-Lee2020 T
PTEN     2-1362-003chr10:
89710111-89710111		TCintronicDe novo--Trost2022 G
Yuen2017 G
PTEN     5-0116-003chr10:
89776888-89776888		TCintergenicDe novo--Yuen2017 G
PTEN     1-0203-003chr10:
89916446-89916446		CTintergenicDe novo--Yuen2017 G
PTEN     Wright2024:Par518chr10:
89692818-89692818		TCexonicMaternalnonsynonymous SNVNM_000314
NM_001304717		c.T302C
c.T821C		p.I101T
p.I274T		23.4-Wright2024 E
PTEN     2-0002-005chr10:
89951899-89951899		TCintergenicDe novo--Yuen2017 G
PTEN     14611.p1chr10:
89692920-89692920		TTAexonicDe novoframeshift insertionNM_000314
NM_001304717		c.405dupA
c.924dupA		p.I135fs
p.I308fs		--O’Roak2012a T
O’Roak2014 T
Zhou2022 GE
PTEN     12517.p1chr10:
89717615-89717615		CTexonicMaternalstopgainNM_000314
NM_001304718
NM_001304717		c.C640T
c.C49T
c.C1159T		p.Q214X
p.Q17X
p.Q387X		49.0-O’Roak2012a T
PTEN     13991.p1chr10:
89692790-89692790		GAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.G274A
c.G793A		p.D92N
p.D265N		33.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2014 T
Wilfert2021 G
Zhou2022 GE
PTEN     3-0515-000chr10:
89638646-89638646		CTintronicDe novo--Trost2022 G
PTEN     14433.p1chr10:
89692908-89692908		CTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C392T
c.C911T		p.T131I
p.T304I		27.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lowther2023 G
O’Roak2012a T
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
PTEN     4-0007-003chr10:
89673662-89673662		CAintronicDe novo--Trost2022 G
PTEN     11390.p1chr10:
89711882-89711882		CAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C500A
c.C1019A		p.T167N
p.T340N		28.6-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lowther2023 G
O’Roak2012a T
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
PTEN     2-1297-003chr10:
89634943-89634943		CAintronicDe novo--Trost2022 G
PTEN     1-0274-004chr10:
89630440-89630440		GAintronicDe novo--Yuen2017 G
PTEN     2-1625-003chr10:
89636710-89636710		TAintronicDe novo--Trost2022 G
PTEN     1-0414-005chr10:
89894205-89894205		GTintergenicDe novo--Yuen2017 G
PTEN     2-1297-003chr10:
89634929-89634940		ATTACATATAGTAintronicDe novo--Trost2022 G
PTEN     2-1693-003chr10:
89903924-89903933		AGTTGTTGTTAGTTGTTintergenicDe novo--Yuen2017 G
PTEN     2-1091-003chr10:
89730590-89730590		GAUTR3De novo--Trost2022 G
PTEN     AU2328301chr10:
89704914-89704914		CGintronicDe novo--Trost2022 G
PTEN     4-0073-003chr10:
89721374-89721376		CACATTintronicDe novo--Trost2022 G
PTEN     MT_40.3chr10:
89674197-89674197		ACintronicDe novo--Trost2022 G
PTEN     1027chr10:
89682945-89682945		AGintronicDe novo--Trost2022 G
PTEN     2-1318-004chr10:
89624277-89624280		AGAGAexonicDe novononframeshift deletionNM_000314
NM_001304717		c.52_54del
c.571_573del		p.18_18del
p.191_191del		--Trost2022 G
Yuen2017 G
Zhou2022 GE
PTEN     2-1223-003chr10:
89717698-89717698		TGexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.T723G
c.T132G
c.T1242G		p.F241L
p.F44L
p.F414L		11.36-Trost2022 G
Yuen2017 G
Zhou2022 GE
PTEN     7-0250-003chr10:
89717698-89717698		TGexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.T723G
c.T132G
c.T1242G		p.F241L
p.F44L
p.F414L		11.36-Yuen2017 G
Zhou2022 GE
PTEN     Hu2022:45chr10:
89717672-89717672		CTexonicUnknownstopgainNM_000314
NM_001304718
NM_001304717		c.C697T
c.C106T
c.C1216T		p.R233X
p.R36X
p.R406X		48.0-Hu2022 T
PTEN     SP0172892chr10:
89653851-89653851		TCexonicnonsynonymous SNVNM_000314
NM_001304717		c.T149C
c.T668C		p.I50T
p.I223T		22.9-Zhou2022 GE
PTEN     Schaaf2011:38chr10:
89712000-89712000		CGexonicUnknownnonsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.C618G
c.C27G
c.C1137G		p.F206L
p.F9L
p.F379L		16.87-Schaaf2011 T
PTEN     Schaaf2011:37chr10:
89690825-89690825		AGexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.A232G
c.A751G		p.T78A
p.T251A		12.12-Schaaf2011 T
PTEN     SP0119081chr10:
89720669-89720669		TGexonicnonsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.T820G
c.T229G
c.T1339G		p.W274G
p.W77G
p.W447G		18.06-Zhou2022 GE
PTEN     1-1111-003chr10:
89690813-89690813		AGexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.A220G
c.A739G		p.R74G
p.R247G		23.7-Trost2022 G
Zhou2022 GE
PTEN     MSSNG00435-003chr10:
89653799-89653799		AGexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.A97G
c.A616G		p.I33V
p.I206V		17.13-Trost2022 G
Zhou2022 GE
PTEN     SP0317813chr10:
89692775-89692775		CTexonicstopgainNM_000314
NM_001304717		c.C259T
c.C778T		p.Q87X
p.Q260X		48.0-Zhou2022 GE
PTEN     SP0152615chr10:
89690847-89690847		GAsplicingDe novosplicing24.8-Tan2024 GE
Tan2024 GE
Zhou2022 GE
PTEN     SP0181672chr10:
89711896-89711896		AGexonicnonsynonymous SNVNM_000314
NM_001304717		c.A514G
c.A1033G		p.R172G
p.R345G		24.0-Zhou2022 GE
PTEN     SP0234542chr10:
89711882-89711884		CTACexonicframeshift deletionNM_000314
NM_001304717		c.501_502del
c.1020_1021del		p.T167fs
p.T340fs		--Zhou2022 GE
PTEN     SP0032180chr10:
89725042-89725042		AGsplicingsplicing15.16-Zhou2022 GE
PTEN     7-0250-003Achr10:
89717698-89717698		TGexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.T723G
c.T132G
c.T1242G		p.F241L
p.F44L
p.F414L		11.36-Trost2022 G
Zhou2022 GE
PTEN     03C16365chr10:
89685315-89685319		GTAAGGsplicingInheritedsplicing--Stessman2017 T
PTEN     SP0032181chr10:
89725042-89725042		AGsplicingDe novosplicing15.16-Tan2024 GE
Zhou2022 GE
PTEN     AU2216201chr10:
89692836-89692836		ATexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.A320T
c.A839T		p.D107V
p.D280V		25.2-Trost2022 G
Zhou2022 GE
PTEN     Wright2024:Par1075chr10:
89624186-89624186		CTexonicDe novononsynonymous SNVNM_001304717c.C479Tp.P160L--Wright2024 E
PTEN     1-0164-003chr10:
89692818-89692818		TCexonicnonsynonymous SNVNM_000314
NM_001304717		c.T302C
c.T821C		p.I101T
p.I274T		23.4-Zhou2022 GE
PTEN     Wright2024:Par1073chr10:
89653809-89653809		GTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.G107T
c.G626T		p.G36V
p.G209V		27.9-Wright2024 E
PTEN     3-0197-000chr10:
89711876-89711876		GTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.G494T
c.G1013T		p.G165V
p.G338V		27.4-Chan2022 G
Trost2022 G
Zhou2022 GE
PTEN     3-0648-000chr10:
89711873-89711873		AGsplicingDe novosplicing19.66-Trost2022 G
Zhou2022 GE
PTEN     Wright2024:Par211chr10:
89712017-89712017		GAsplicingPaternalsplicing21.9-Wright2024 E
PTEN     1-0539-003chr10:
89894202-89894202		CTintergenicDe novo--Yuen2017 G
PTEN     EX17Achr10:
89692971-89692971		TAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.T455A
c.T974A		p.L152Q
p.L325Q		26.0-Fu2022 E
PTEN     IBS-ASD-9733-blood-wgs-ILLUMINAchr10:
89763875-89763875		GTintergenicDe novo--Kim2024 G
PTEN     6233chr10:
89711882-89711882		CAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C500A
c.C1019A		p.T167N
p.T340N		28.6-Fu2022 E
Trost2022 G
PTEN     IBS-ASD-9813-blood-wgs-ILLUMINAchr10:
89727426-89727426		GAUTR3De novo--Kim2024 G
PTEN     IBS-ASD-17593-blood-wgs-ILLUMINAchr10:
89692818-89692818		TCexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.T302C
c.T821C		p.I101T
p.I274T		23.4-Kim2024 G
PTEN     IBS-ASD-18933-blood-wgs-ILLUMINAchr10:
89665943-89665943		CTintronicDe novo--Kim2024 G
PTEN     IBS-ASD-17763-blood-wgs-ILLUMINAchr10:
89664768-89664768		CAintronicDe novo--Kim2024 G
PTEN     IBS-ASD-9833-blood-wgs-ILLUMINAchr10:
89651828-89651828		AGintronicDe novo--Kim2024 G
PTEN     161450chr10:
89690836-89690836		TGexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.T243G
c.T762G		p.F81L
p.F254L		35.0-Fu2022 E
PTEN     IBS-ASD-29583-blood-wgs-ILLUMINAchr10:
89624693-89624693		CTintronicDe novo--Kim2024 G
PTEN     3-0209-000chr10:
89821944-89821944		GTintergenicDe novo--Yuen2017 G
PTEN     08C72370chr10:
89692836-89692836		ATexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.A320T
c.A839T		p.D107V
p.D280V		25.2-Fu2022 E
PTEN     IBS-ASD-13403-blood-wgs-ILLUMINAchr10:
90018021-90018023		AAGAintergenicDe novo--Kim2024 G
PTEN     2-0182-003chr10:
89894202-89894202		CTintergenicDe novo--Yuen2017 G
PTEN     IBS-ASD-19603-blood-wgs-ILLUMINAchr10:
90013887-90013887		CTintergenicDe novo--Kim2024 G
PTEN     IBS-ASD-16603-blood-wgs-ILLUMINAchr10:
89991311-89991311		ACintergenicDe novo--Kim2024 G
PTEN     IBS-ASD-19463-blood-wgs-ILLUMINAchr10:
89949088-89949088		CGintergenicDe novo--Kim2024 G
PTEN     IBS-ASD-19513-blood-wgs-ILLUMINAchr10:
89920461-89920461		CTintergenicDe novo--Kim2024 G
PTEN     IBS-ASD-12993-blood-wgs-ILLUMINAchr10:
89850703-89850703		GTintergenicDe novo--Kim2024 G
PTEN     Wright2024:Par1099chr10:
89717757-89717759		AGAAexonicUnknownframeshift deletionNM_000314
NM_001304718
NM_001304717		c.783_784del
c.192_193del
c.1302_1303del		p.Q261fs
p.Q64fs
p.Q434fs		--Wright2024 E
PTEN     IBS-ASD-30293-blood-wgs-ILLUMINAchr10:
89770923-89770923		TCintergenicDe novo--Kim2024 G
PTEN     1-0638-003chr10:
89768326-89768326		AGintergenicDe novo--Yuen2017 G
PTEN     Wang2023:898chr10:
89692982-89692982		GAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.G466A
c.G985A		p.G156R
p.G329R		30.0-Wang2023 E
PTEN     Wright2024:Par272chr10:
89685268-89685268		AGsplicingDe novosplicing17.98-Wright2024 E
PTEN     137862chr10:
89690802-89690802		GAsplicingInheritedsplicing24.1-Stessman2017 T
PTEN     AGG0314chr10:
89711927-89711928		TATexonicDe novoframeshift deletionNM_000314
NM_001304717		c.546delA
c.1065delA		p.L182fs
p.L355fs		--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PTEN     5-0083-003chr10:
89665823-89665823		CTintronicDe novo--Yuen2017 G
PTEN     Wright2024:Par700chr10:
89692919-89692919		ACexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.A403C
c.A922C		p.I135L
p.I308L		29.5-Wright2024 E
PTEN     Wright2024:Par1568chr10:
89653840-89653840		CGexonicUnknownstopgainNM_000314
NM_001304717		c.C138G
c.C657G		p.Y46X
p.Y219X		47.0-Wright2024 E
PTEN     2-0299-005chr10:
89755194-89755194		GAintergenicDe novo--Yuen2017 G
PTEN     Schaaf2011:104chr10:
89690798-89690803		TTTAGTTexonicUnknownframeshift deletionNM_000314
NM_001304717		c.210_210del
c.729_729del		p.L70fs
p.L243fs		--Schaaf2011 T
PTEN     1264011chr10:
89624245-89624245		GTexonicDe novostopgainNM_000314
NM_001304717		c.G19T
c.G538T		p.E7X
p.E180X		49.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
PTEN     Furukawa2025:Patient_1chr10:
89720808-89720808		TCexonicDe novononsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.T959C
c.T368C
c.T1478C		p.L320S
p.L123S
p.L493S		26.0-Furukawa2025 G
PTEN     1-0901-003chr10:
89911039-89911039		AGintergenicDe novo--Yuen2017 G
PTEN     1-0158-012chr10:
89649287-89649287		AAAGTintronicDe novo--Yuen2017 G
PTEN     Wright2024:Par737chr10:
89692911-89692912		GTGexonicPaternalframeshift deletionNM_000314
NM_001304717		c.396delT
c.915delT		p.G132fs
p.G305fs		--Wright2024 E
PTEN     13314.p1chr10:
89839953-89839953		AGintergenicDe novo--Werling2018 G
PTEN     Wright2024:Par1603chr10:
89717712-89717712		CTexonicUnknownnonsynonymous SNVNM_000314
NM_001304718
NM_001304717		c.C737T
c.C146T
c.C1256T		p.P246L
p.P49L
p.P419L		19.43-Wright2024 E
PTEN     1-0219-003chr10:
89726672-89726672		TTGUTR3De novo--Yuen2017 G
PTEN     Wright2024:Par1598chr10:
89653851-89653851		TCexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.T149C
c.T668C		p.I50T
p.I223T		22.9-Wright2024 E
PTEN     M21723chr10:
89717650-89717650		TGexonicUnknownstopgainNM_000314
NM_001304718
NM_001304717		c.T675G
c.T84G
c.T1194G		p.Y225X
p.Y28X
p.Y398X		48.0-Guo2018 T
PTEN     Wright2024:Par337chr10:
89725042-89725042		AGsplicingDe novosplicing15.16-Wright2024 E
PTEN     Wright2024:Par336chr10:
89725042-89725042		AGsplicingDe novosplicing15.16-Wright2024 E
PTEN     SMHC00996s000chr10:
89692904-89692904		CTexonicDe novostopgainNM_000314
NM_001304717		c.C388T
c.C907T		p.R130X
p.R303X		48.08.237E-6Yuan2023 E
PTEN     211-5447-3chr10:
89692818-89692818		TCexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.T302C
c.T821C		p.I101T
p.I274T		23.4-O’Roak2014 T
PTEN     AU065Achr10:
89711874-89711874		GAsplicingDe novosplicing21.2-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Tan2024 GE
Trost2022 G
Zhou2022 GE
PTEN     217-14246-3700chr10:
89692836-89692836		ATexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.A320T
c.A839T		p.D107V
p.D280V		25.2-O’Roak2014 T
Source Variant 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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