Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.39872320A>CCA499931620ZPBP2c.457A>C (p.Arg153=)
c.391A>C (p.Arg131=)
c.103A>C (p.Arg35=)
c.406+695A>C (n.406+695A>C)
n.648A>C
17g.39872320A>GCA399279450ZPBP2c.457A>G (p.Arg153Gly)
c.391A>G (p.Arg131Gly)
c.103A>G (p.Arg35Gly)
c.406+695A>G (n.406+695A>G)
n.648A>G
17g.39872320A>TCA399279452ZPBP2c.457A>T (p.Arg153Trp)
c.391A>T (p.Arg131Trp)
c.103A>T (p.Arg35Trp)
c.406+695A>T (n.406+695A>T)
n.648A>T
17g.39872321G>ACA399279454ZPBP2c.458G>A (p.Arg153Lys)
c.392G>A (p.Arg131Lys)
c.104G>A (p.Arg35Lys)
c.406+696G>A (n.406+696G>A)
n.649G>A
 dbSNP
17g.39872321G>CCA399279457ZPBP2c.458G>C (p.Arg153Thr)
c.392G>C (p.Arg131Thr)
c.104G>C (p.Arg35Thr)
c.406+696G>C (n.406+696G>C)
n.649G>C
17g.39872321G>TCA399279459ZPBP2c.458G>T (p.Arg153Met)
c.392G>T (p.Arg131Met)
c.104G>T (p.Arg35Met)
c.406+696G>T (n.406+696G>T)
n.649G>T
17g.39872322G>ACA8535964ZPBP2c.459G>A (p.Arg153=)
c.393G>A (p.Arg131=)
c.105G>A (p.Arg35=)
c.406+697G>A (n.406+697G>A)
n.650G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872322G>CCA399279465ZPBP2c.459G>C (p.Arg153Ser)
c.393G>C (p.Arg131Ser)
c.105G>C (p.Arg35Ser)
c.406+697G>C (n.406+697G>C)
n.650G>C
 gnomAD v4
17g.39872322G=CA2259290859ZPBP2c.459G= (p.Arg153=)
c.393G= (p.Arg131=)
c.105G= (p.Arg35=)
c.406+697G= (n.406+697G=)
n.650G=
17g.39872322G>TCA399279462ZPBP2c.459G>T (p.Arg153Ser)
c.393G>T (p.Arg131Ser)
c.105G>T (p.Arg35Ser)
c.406+697G>T (n.406+697G>T)
n.650G>T
17g.39872323T>ACA399279469ZPBP2c.460T>A (p.Ser154Thr)
c.394T>A (p.Ser132Thr)
c.106T>A (p.Ser36Thr)
c.406+698T>A (n.406+698T>A)
n.651T>A
17g.39872323T>CCA399279472ZPBP2c.460T>C (p.Ser154Pro)
c.394T>C (p.Ser132Pro)
c.106T>C (p.Ser36Pro)
c.406+698T>C (n.406+698T>C)
n.651T>C
17g.39872323T>GCA399279475ZPBP2c.460T>G (p.Ser154Ala)
c.394T>G (p.Ser132Ala)
c.106T>G (p.Ser36Ala)
c.406+698T>G (n.406+698T>G)
n.651T>G
17g.39872324C>ACA399279476ZPBP2c.461C>A (p.Ser154Tyr)
c.395C>A (p.Ser132Tyr)
c.107C>A (p.Ser36Tyr)
c.406+699C>A (n.406+699C>A)
n.652C>A
17g.39872324C>GCA399279478ZPBP2c.461C>G (p.Ser154Cys)
c.395C>G (p.Ser132Cys)
c.107C>G (p.Ser36Cys)
c.406+699C>G (n.406+699C>G)
n.652C>G
17g.39872324C>TCA399279479ZPBP2c.461C>T (p.Ser154Phe)
c.395C>T (p.Ser132Phe)
c.107C>T (p.Ser36Phe)
c.406+699C>T (n.406+699C>T)
n.652C>T
17g.39872325T>ACA499931621ZPBP2c.462T>A (p.Ser154=)
c.396T>A (p.Ser132=)
c.108T>A (p.Ser36=)
c.406+700T>A (n.406+700T>A)
n.653T>A
17g.39872325T>CCA290455814ZPBP2c.462T>C (p.Ser154=)
c.396T>C (p.Ser132=)
c.108T>C (p.Ser36=)
c.406+700T>C (n.406+700T>C)
n.653T>C
 dbSNP
17g.39872325T>GCA499931622ZPBP2c.462T>G (p.Ser154=)
c.396T>G (p.Ser132=)
c.108T>G (p.Ser36=)
c.406+700T>G (n.406+700T>G)
n.653T>G
17g.39872325T=CA2259290860ZPBP2c.462T= (p.Ser154=)
c.396T= (p.Ser132=)
c.108T= (p.Ser36=)
c.406+700T= (n.406+700T=)
n.653T=
17g.39872326T>ACA399279487ZPBP2c.463T>A (p.Cys155Ser)
c.397T>A (p.Cys133Ser)
c.109T>A (p.Cys37Ser)
c.406+701T>A (n.406+701T>A)
n.654T>A
17g.39872326T>CCA399279482ZPBP2c.463T>C (p.Cys155Arg)
c.397T>C (p.Cys133Arg)
c.109T>C (p.Cys37Arg)
c.406+701T>C (n.406+701T>C)
n.654T>C
17g.39872326T>GCA399279485ZPBP2c.463T>G (p.Cys155Gly)
c.397T>G (p.Cys133Gly)
c.109T>G (p.Cys37Gly)
c.406+701T>G (n.406+701T>G)
n.654T>G
17g.39872326T=CA2259290861ZPBP2c.463T= (p.Cys155=)
c.397T= (p.Cys133=)
c.109T= (p.Cys37=)
c.406+701T= (n.406+701T=)
n.654T=
17g.39872327G>ACA8535965ZPBP2c.464G>A (p.Cys155Tyr)
c.398G>A (p.Cys133Tyr)
c.110G>A (p.Cys37Tyr)
c.406+702G>A (n.406+702G>A)
n.655G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872327G>CCA399279491ZPBP2c.464G>C (p.Cys155Ser)
c.398G>C (p.Cys133Ser)
c.110G>C (p.Cys37Ser)
c.406+702G>C (n.406+702G>C)
n.655G>C
17g.39872327G=CA2259290862ZPBP2c.464G= (p.Cys155=)
c.398G= (p.Cys133=)
c.110G= (p.Cys37=)
c.406+702G= (n.406+702G=)
n.655G=
17g.39872327G>TCA399279494ZPBP2c.464G>T (p.Cys155Phe)
c.398G>T (p.Cys133Phe)
c.110G>T (p.Cys37Phe)
c.406+702G>T (n.406+702G>T)
n.655G>T
17g.39872327dupCA625946507ZPBP2c.464dup (p.Cys155TrpfsTer7)
c.398dup (p.Cys133TrpfsTer7)
c.110dup (p.Cys37TrpfsTer7)
c.406+702dup (n.406+702dup)
n.655dup
 dbSNP gnomAD v2 gnomAD v4
17g.39872328T>ACA399279495ZPBP2c.465T>A (p.Cys155Ter)
c.399T>A (p.Cys133Ter)
c.111T>A (p.Cys37Ter)
c.406+703T>A (n.406+703T>A)
n.656T>A
17g.39872328T>CCA499931623ZPBP2c.465T>C (p.Cys155=)
c.399T>C (p.Cys133=)
c.111T>C (p.Cys37=)
c.406+703T>C (n.406+703T>C)
n.656T>C
17g.39872328T>GCA399279496ZPBP2c.465T>G (p.Cys155Trp)
c.399T>G (p.Cys133Trp)
c.111T>G (p.Cys37Trp)
c.406+703T>G (n.406+703T>G)
n.656T>G
17g.39872329A>CCA399279500ZPBP2c.466A>C (p.Ile156Leu)
c.400A>C (p.Ile134Leu)
c.112A>C (p.Ile38Leu)
c.406+704A>C (n.406+704A>C)
n.657A>C
17g.39872329A>GCA399279503ZPBP2c.466A>G (p.Ile156Val)
c.400A>G (p.Ile134Val)
c.112A>G (p.Ile38Val)
c.406+704A>G (n.406+704A>G)
n.657A>G
17g.39872329A>TCA399279506ZPBP2c.466A>T (p.Ile156Leu)
c.400A>T (p.Ile134Leu)
c.112A>T (p.Ile38Leu)
c.406+704A>T (n.406+704A>T)
n.657A>T
17g.39872330T>ACA399279507ZPBP2c.467T>A (p.Ile156Lys)
c.401T>A (p.Ile134Lys)
c.113T>A (p.Ile38Lys)
c.406+705T>A (n.406+705T>A)
n.658T>A
17g.39872330T>CCA399279510ZPBP2c.467T>C (p.Ile156Thr)
c.401T>C (p.Ile134Thr)
c.113T>C (p.Ile38Thr)
c.406+705T>C (n.406+705T>C)
n.658T>C
17g.39872330T>GCA399279512ZPBP2c.467T>G (p.Ile156Arg)
c.401T>G (p.Ile134Arg)
c.113T>G (p.Ile38Arg)
c.406+705T>G (n.406+705T>G)
n.658T>G
17g.39872331A>CCA499931624ZPBP2c.468A>C (p.Ile156=)
c.402A>C (p.Ile134=)
c.114A>C (p.Ile38=)
c.406+706A>C (n.406+706A>C)
n.659A>C
17g.39872331A>GCA399279513ZPBP2c.468A>G (p.Ile156Met)
c.402A>G (p.Ile134Met)
c.114A>G (p.Ile38Met)
c.406+706A>G (n.406+706A>G)
n.659A>G
17g.39872331A>TCA499931625ZPBP2c.468A>T (p.Ile156=)
c.402A>T (p.Ile134=)
c.114A>T (p.Ile38=)
c.406+706A>T (n.406+706A>T)
n.659A>T
17g.39872332G>ACA399279516ZPBP2c.469G>A (p.Gly157Arg)
c.403G>A (p.Gly135Arg)
c.115G>A (p.Gly39Arg)
c.406+707G>A (n.406+707G>A)
n.660G>A
17g.39872332G>CCA399279521ZPBP2c.469G>C (p.Gly157Arg)
c.403G>C (p.Gly135Arg)
c.115G>C (p.Gly39Arg)
c.406+707G>C (n.406+707G>C)
n.660G>C
17g.39872332G>TCA399279519ZPBP2c.469G>T (p.Gly157Trp)
c.403G>T (p.Gly135Trp)
c.115G>T (p.Gly39Trp)
c.406+707G>T (n.406+707G>T)
n.660G>T
17g.39872333G>ACA399279524ZPBP2c.470G>A (p.Gly157Glu)
c.404G>A (p.Gly135Glu)
c.116G>A (p.Gly39Glu)
c.406+708G>A (n.406+708G>A)
n.661G>A
17g.39872333G>CCA399279527ZPBP2c.470G>C (p.Gly157Ala)
c.404G>C (p.Gly135Ala)
c.116G>C (p.Gly39Ala)
c.406+708G>C (n.406+708G>C)
n.661G>C
17g.39872333G>TCA399279529ZPBP2c.470G>T (p.Gly157Val)
c.404G>T (p.Gly135Val)
c.116G>T (p.Gly39Val)
c.406+708G>T (n.406+708G>T)
n.661G>T
17g.39872334G>ACA499931626ZPBP2c.471G>A (p.Gly157=)
c.405G>A (p.Gly135=)
c.117G>A (p.Gly39=)
c.407-710G>A (n.407-710G>A)
n.662G>A
17g.39872334G>CCA499931627ZPBP2c.471G>C (p.Gly157=)
c.405G>C (p.Gly135=)
c.117G>C (p.Gly39=)
c.407-710G>C (n.407-710G>C)
n.662G>C
 dbSNP
17g.39872334G=CA2259290863ZPBP2c.471G= (p.Gly157=)
c.405G= (p.Gly135=)
c.117G= (p.Gly39=)
c.407-710G= (n.407-710G=)
n.662G=
17g.39872334G>TCA499931628ZPBP2c.471G>T (p.Gly157=)
c.405G>T (p.Gly135=)
c.117G>T (p.Gly39=)
c.407-710G>T (n.407-710G>T)
n.662G>T
17g.39872335A>CCA499931629ZPBP2c.472A>C (p.Arg158=)
c.406A>C (p.Arg136=)
c.118A>C (p.Arg40=)
c.407-709A>C (n.407-709A>C)
n.663A>C
17g.39872335A>GCA399279532ZPBP2c.472A>G (p.Arg158Gly)
c.406A>G (p.Arg136Gly)
c.118A>G (p.Arg40Gly)
c.407-709A>G (n.407-709A>G)
n.663A>G
 gnomAD v3 gnomAD v4
17g.39872335A>TCA399279535ZPBP2c.472A>T (p.Arg158Ter)
c.406A>T (p.Arg136Ter)
c.118A>T (p.Arg40Ter)
c.407-709A>T (n.407-709A>T)
n.663A>T
17g.39872336G>ACA399279538ZPBP2c.473G>A (p.Arg158Lys)
c.407G>A (p.Arg136Lys)
c.119G>A (p.Arg40Lys)
c.407-708G>A (n.407-708G>A)
n.664G>A
17g.39872336G>CCA399279541ZPBP2c.473G>C (p.Arg158Thr)
c.407G>C (p.Arg136Thr)
c.119G>C (p.Arg40Thr)
c.407-708G>C (n.407-708G>C)
n.664G>C
17g.39872336G>TCA399279543ZPBP2c.473G>T (p.Arg158Ile)
c.407G>T (p.Arg136Ile)
c.119G>T (p.Arg40Ile)
c.407-708G>T (n.407-708G>T)
n.664G>T
17g.39872337A>CCA399279546ZPBP2c.474A>C (p.Arg158Ser)
c.408A>C (p.Arg136Ser)
c.120A>C (p.Arg40Ser)
c.407-707A>C (n.407-707A>C)
n.665A>C
17g.39872337A>GCA499931630ZPBP2c.474A>G (p.Arg158=)
c.408A>G (p.Arg136=)
c.120A>G (p.Arg40=)
c.407-707A>G (n.407-707A>G)
n.665A>G
17g.39872337A>TCA399279550ZPBP2c.474A>T (p.Arg158Ser)
c.408A>T (p.Arg136Ser)
c.120A>T (p.Arg40Ser)
c.407-707A>T (n.407-707A>T)
n.665A>T
17g.39872338T>ACA399279553ZPBP2c.475T>A (p.Tyr159Asn)
c.409T>A (p.Tyr137Asn)
c.121T>A (p.Tyr41Asn)
c.407-706T>A (n.407-706T>A)
n.666T>A
17g.39872338T>CCA399279556ZPBP2c.475T>C (p.Tyr159His)
c.409T>C (p.Tyr137His)
c.121T>C (p.Tyr41His)
c.407-706T>C (n.407-706T>C)
n.666T>C
 gnomAD v4
17g.39872338T>GCA399279558ZPBP2c.475T>G (p.Tyr159Asp)
c.409T>G (p.Tyr137Asp)
c.121T>G (p.Tyr41Asp)
c.407-706T>G (n.407-706T>G)
n.666T>G
17g.39872339A>CCA399279559ZPBP2c.476A>C (p.Tyr159Ser)
c.410A>C (p.Tyr137Ser)
c.122A>C (p.Tyr41Ser)
c.407-705A>C (n.407-705A>C)
n.667A>C
 gnomAD v4
17g.39872339A>GCA399279563ZPBP2c.476A>G (p.Tyr159Cys)
c.410A>G (p.Tyr137Cys)
c.122A>G (p.Tyr41Cys)
c.407-705A>G (n.407-705A>G)
n.667A>G
17g.39872339A>TCA399279560ZPBP2c.476A>T (p.Tyr159Phe)
c.410A>T (p.Tyr137Phe)
c.122A>T (p.Tyr41Phe)
c.407-705A>T (n.407-705A>T)
n.667A>T
 COSMIC
17g.39872339_39872340delinsACCA2259290864ZPBP2c.476_477delinsAC (p.Tyr159=)
c.410_411delinsAC (p.Tyr137=)
c.122_123delinsAC (p.Tyr41=)
c.407-705_407-704delinsAC (n.407-705_407-704delinsAC)
n.667_668delinsAC
17g.39872340delCA2259290865ZPBP2c.477del (p.Tyr159Ter)
c.411del (p.Tyr137Ter)
c.123del (p.Tyr41Ter)
c.407-704del (n.407-704del)
n.668del
 dbSNP gnomAD v4
17g.39872340C>ACA399279565ZPBP2c.477C>A (p.Tyr159Ter)
c.411C>A (p.Tyr137Ter)
c.123C>A (p.Tyr41Ter)
c.407-704C>A (n.407-704C>A)
n.668C>A
 gnomAD v4
17g.39872340C=CA2259290866ZPBP2c.477C= (p.Tyr159=)
c.411C= (p.Tyr137=)
c.123C= (p.Tyr41=)
c.407-704C= (n.407-704C=)
n.668C=
17g.39872340C>GCA399279568ZPBP2c.477C>G (p.Tyr159Ter)
c.411C>G (p.Tyr137Ter)
c.123C>G (p.Tyr41Ter)
c.407-704C>G (n.407-704C>G)
n.668C>G
17g.39872340C>TCA499931631ZPBP2c.477C>T (p.Tyr159=)
c.411C>T (p.Tyr137=)
c.123C>T (p.Tyr41=)
c.407-704C>T (n.407-704C>T)
n.668C>T
 dbSNP gnomAD v4
17g.39872341A=CA2259290867ZPBP2c.478A= (p.Asn160=)
c.412A= (p.Asn138=)
c.124A= (p.Asn42=)
c.407-703A= (n.407-703A=)
n.669A=
17g.39872341A>CCA399279570ZPBP2c.478A>C (p.Asn160His)
c.412A>C (p.Asn138His)
c.124A>C (p.Asn42His)
c.407-703A>C (n.407-703A>C)
n.669A>C
17g.39872341A>GCA399279573ZPBP2c.478A>G (p.Asn160Asp)
c.412A>G (p.Asn138Asp)
c.124A>G (p.Asn42Asp)
c.407-703A>G (n.407-703A>G)
n.669A>G
 dbSNP gnomAD v4
17g.39872341A>TCA399279576ZPBP2c.478A>T (p.Asn160Tyr)
c.412A>T (p.Asn138Tyr)
c.124A>T (p.Asn42Tyr)
c.407-703A>T (n.407-703A>T)
n.669A>T
17g.39872342A>CCA399279580ZPBP2c.479A>C (p.Asn160Thr)
c.413A>C (p.Asn138Thr)
c.125A>C (p.Asn42Thr)
c.407-702A>C (n.407-702A>C)
n.670A>C
17g.39872342A>GCA399279581ZPBP2c.479A>G (p.Asn160Ser)
c.413A>G (p.Asn138Ser)
c.125A>G (p.Asn42Ser)
c.407-702A>G (n.407-702A>G)
n.670A>G
17g.39872342A>TCA399279584ZPBP2c.479A>T (p.Asn160Ile)
c.413A>T (p.Asn138Ile)
c.125A>T (p.Asn42Ile)
c.407-702A>T (n.407-702A>T)
n.670A>T
17g.39872343T>ACA399279586ZPBP2c.480T>A (p.Asn160Lys)
c.414T>A (p.Asn138Lys)
c.126T>A (p.Asn42Lys)
c.407-701T>A (n.407-701T>A)
n.671T>A
17g.39872343T>CCA499931632ZPBP2c.480T>C (p.Asn160=)
c.414T>C (p.Asn138=)
c.126T>C (p.Asn42=)
c.407-701T>C (n.407-701T>C)
n.671T>C
17g.39872343T>GCA399279589ZPBP2c.480T>G (p.Asn160Lys)
c.414T>G (p.Asn138Lys)
c.126T>G (p.Asn42Lys)
c.407-701T>G (n.407-701T>G)
n.671T>G
17g.39872344G>ACA399279594ZPBP2c.481G>A (p.Asp161Asn)
c.415G>A (p.Asp139Asn)
c.127G>A (p.Asp43Asn)
c.407-700G>A (n.407-700G>A)
n.672G>A
17g.39872344G>CCA399279598ZPBP2c.481G>C (p.Asp161His)
c.415G>C (p.Asp139His)
c.127G>C (p.Asp43His)
c.407-700G>C (n.407-700G>C)
n.672G>C
17g.39872344G>TCA399279592ZPBP2c.481G>T (p.Asp161Tyr)
c.415G>T (p.Asp139Tyr)
c.127G>T (p.Asp43Tyr)
c.407-700G>T (n.407-700G>T)
n.672G>T
17g.39872345A=CA2259290868ZPBP2c.482A= (p.Asp161=)
c.416A= (p.Asp139=)
c.128A= (p.Asp43=)
c.407-699A= (n.407-699A=)
n.673A=
17g.39872345A>CCA399279602ZPBP2c.482A>C (p.Asp161Ala)
c.416A>C (p.Asp139Ala)
c.128A>C (p.Asp43Ala)
c.407-699A>C (n.407-699A>C)
n.673A>C
17g.39872345A>GCA8535966ZPBP2c.482A>G (p.Asp161Gly)
c.416A>G (p.Asp139Gly)
c.128A>G (p.Asp43Gly)
c.407-699A>G (n.407-699A>G)
n.673A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872345A>TCA399279604ZPBP2c.482A>T (p.Asp161Val)
c.416A>T (p.Asp139Val)
c.128A>T (p.Asp43Val)
c.407-699A>T (n.407-699A>T)
n.673A>T
17g.39872346T>ACA399279605ZPBP2c.483T>A (p.Asp161Glu)
c.417T>A (p.Asp139Glu)
c.129T>A (p.Asp43Glu)
c.407-698T>A (n.407-698T>A)
n.674T>A
17g.39872346T>CCA499931633ZPBP2c.483T>C (p.Asp161=)
c.417T>C (p.Asp139=)
c.129T>C (p.Asp43=)
c.407-698T>C (n.407-698T>C)
n.674T>C
 gnomAD v4
17g.39872346T>GCA399279607ZPBP2c.483T>G (p.Asp161Glu)
c.417T>G (p.Asp139Glu)
c.129T>G (p.Asp43Glu)
c.407-698T>G (n.407-698T>G)
n.674T>G
17g.39872347G>ACA399279609ZPBP2c.484G>A (p.Val162Ile)
c.418G>A (p.Val140Ile)
c.130G>A (p.Val44Ile)
c.407-697G>A (n.407-697G>A)
n.675G>A
 gnomAD v4
17g.39872347G>CCA399279610ZPBP2c.484G>C (p.Val162Leu)
c.418G>C (p.Val140Leu)
c.130G>C (p.Val44Leu)
c.407-697G>C (n.407-697G>C)
n.675G>C
17g.39872347G>TCA399279612ZPBP2c.484G>T (p.Val162Leu)
c.418G>T (p.Val140Leu)
c.130G>T (p.Val44Leu)
c.407-697G>T (n.407-697G>T)
n.675G>T
17g.39872348T>ACA399279613ZPBP2c.485T>A (p.Val162Glu)
c.419T>A (p.Val140Glu)
c.131T>A (p.Val44Glu)
c.407-696T>A (n.407-696T>A)
n.676T>A
17g.39872348T>CCA399279614ZPBP2c.485T>C (p.Val162Ala)
c.419T>C (p.Val140Ala)
c.131T>C (p.Val44Ala)
c.407-696T>C (n.407-696T>C)
n.676T>C
17g.39872348T>GCA399279615ZPBP2c.485T>G (p.Val162Gly)
c.419T>G (p.Val140Gly)
c.131T>G (p.Val44Gly)
c.407-696T>G (n.407-696T>G)
n.676T>G
17g.39872349A>CCA499931701ZPBP2c.486A>C (p.Val162=)
c.420A>C (p.Val140=)
c.132A>C (p.Val44=)
c.407-695A>C (n.407-695A>C)
n.677A>C
17g.39872349A>GCA499931703ZPBP2c.486A>G (p.Val162=)
c.420A>G (p.Val140=)
c.132A>G (p.Val44=)
c.407-695A>G (n.407-695A>G)
n.677A>G
17g.39872349A>TCA499931702ZPBP2c.486A>T (p.Val162=)
c.420A>T (p.Val140=)
c.132A>T (p.Val44=)
c.407-695A>T (n.407-695A>T)
n.677A>T
17g.39872350T>ACA399279617ZPBP2c.487T>A (p.Phe163Ile)
c.421T>A (p.Phe141Ile)
c.133T>A (p.Phe45Ile)
c.407-694T>A (n.407-694T>A)
n.678T>A
17g.39872350T>CCA399279619ZPBP2c.487T>C (p.Phe163Leu)
c.421T>C (p.Phe141Leu)
c.133T>C (p.Phe45Leu)
c.407-694T>C (n.407-694T>C)
n.678T>C
17g.39872350T>GCA399279620ZPBP2c.487T>G (p.Phe163Val)
c.421T>G (p.Phe141Val)
c.133T>G (p.Phe45Val)
c.407-694T>G (n.407-694T>G)
n.678T>G
 gnomAD v4
17g.39872351T>ACA399279622ZPBP2c.488T>A (p.Phe163Tyr)
c.422T>A (p.Phe141Tyr)
c.134T>A (p.Phe45Tyr)
c.407-693T>A (n.407-693T>A)
n.679T>A
17g.39872351T>CCA399279624ZPBP2c.488T>C (p.Phe163Ser)
c.422T>C (p.Phe141Ser)
c.134T>C (p.Phe45Ser)
c.407-693T>C (n.407-693T>C)
n.679T>C
17g.39872351T>GCA399279625ZPBP2c.488T>G (p.Phe163Cys)
c.422T>G (p.Phe141Cys)
c.134T>G (p.Phe45Cys)
c.407-693T>G (n.407-693T>G)
n.679T>G
17g.39872352C>ACA399279627ZPBP2c.489C>A (p.Phe163Leu)
c.423C>A (p.Phe141Leu)
c.135C>A (p.Phe45Leu)
c.407-692C>A (n.407-692C>A)
n.680C>A
17g.39872352C>GCA399279628ZPBP2c.489C>G (p.Phe163Leu)
c.423C>G (p.Phe141Leu)
c.135C>G (p.Phe45Leu)
c.407-692C>G (n.407-692C>G)
n.680C>G
17g.39872352C>TCA499931707ZPBP2c.489C>T (p.Phe163=)
c.423C>T (p.Phe141=)
c.135C>T (p.Phe45=)
c.407-692C>T (n.407-692C>T)
n.680C>T
17g.39872353T>ACA399279634ZPBP2c.490T>A (p.Phe164Ile)
c.424T>A (p.Phe142Ile)
c.136T>A (p.Phe46Ile)
c.407-691T>A (n.407-691T>A)
n.681T>A
17g.39872353T>CCA399279635ZPBP2c.490T>C (p.Phe164Leu)
c.424T>C (p.Phe142Leu)
c.136T>C (p.Phe46Leu)
c.407-691T>C (n.407-691T>C)
n.681T>C
 dbSNP gnomAD v3 gnomAD v4
17g.39872353T>GCA399279636ZPBP2c.490T>G (p.Phe164Val)
c.424T>G (p.Phe142Val)
c.136T>G (p.Phe46Val)
c.407-691T>G (n.407-691T>G)
n.681T>G
17g.39872353T=CA2259290869ZPBP2c.490T= (p.Phe164=)
c.424T= (p.Phe142=)
c.136T= (p.Phe46=)
c.407-691T= (n.407-691T=)
n.681T=
17g.39872354T>ACA399279639ZPBP2c.491T>A (p.Phe164Tyr)
c.425T>A (p.Phe142Tyr)
c.137T>A (p.Phe46Tyr)
c.407-690T>A (n.407-690T>A)
n.682T>A
 dbSNP
17g.39872354T>CCA399279643ZPBP2c.491T>C (p.Phe164Ser)
c.425T>C (p.Phe142Ser)
c.137T>C (p.Phe46Ser)
c.407-690T>C (n.407-690T>C)
n.682T>C
17g.39872354T>GCA399279644ZPBP2c.491T>G (p.Phe164Cys)
c.425T>G (p.Phe142Cys)
c.137T>G (p.Phe46Cys)
c.407-690T>G (n.407-690T>G)
n.682T>G
17g.39872354T=CA2259290870ZPBP2c.491T= (p.Phe164=)
c.425T= (p.Phe142=)
c.137T= (p.Phe46=)
c.407-690T= (n.407-690T=)
n.682T=
17g.39872355T>ACA399279646ZPBP2c.492T>A (p.Phe164Leu)
c.426T>A (p.Phe142Leu)
c.138T>A (p.Phe46Leu)
c.407-689T>A (n.407-689T>A)
n.683T>A
17g.39872355T>CCA8535967ZPBP2c.492T>C (p.Phe164=)
c.426T>C (p.Phe142=)
c.138T>C (p.Phe46=)
c.407-689T>C (n.407-689T>C)
n.683T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872355T>GCA399279650ZPBP2c.492T>G (p.Phe164Leu)
c.426T>G (p.Phe142Leu)
c.138T>G (p.Phe46Leu)
c.407-689T>G (n.407-689T>G)
n.683T>G
17g.39872355T=CA2259290871ZPBP2c.492T= (p.Phe164=)
c.426T= (p.Phe142=)
c.138T= (p.Phe46=)
c.407-689T= (n.407-689T=)
n.683T=
17g.39872356A>CCA499931708ZPBP2c.493A>C (p.Arg165=)
c.427A>C (p.Arg143=)
c.139A>C (p.Arg47=)
c.407-688A>C (n.407-688A>C)
n.684A>C
17g.39872356A>GCA399279652ZPBP2c.493A>G (p.Arg165Gly)
c.427A>G (p.Arg143Gly)
c.139A>G (p.Arg47Gly)
c.407-688A>G (n.407-688A>G)
n.684A>G
17g.39872356A>TCA399279653ZPBP2c.493A>T (p.Arg165Ter)
c.427A>T (p.Arg143Ter)
c.139A>T (p.Arg47Ter)
c.407-688A>T (n.407-688A>T)
n.684A>T
17g.39872357G>ACA399279656ZPBP2c.494G>A (p.Arg165Lys)
c.428G>A (p.Arg143Lys)
c.140G>A (p.Arg47Lys)
c.407-687G>A (n.407-687G>A)
n.685G>A
17g.39872357G>CCA399279655ZPBP2c.494G>C (p.Arg165Thr)
c.428G>C (p.Arg143Thr)
c.140G>C (p.Arg47Thr)
c.407-687G>C (n.407-687G>C)
n.685G>C
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.39872357G=CA2259290872ZPBP2c.494G= (p.Arg165=)
c.428G= (p.Arg143=)
c.140G= (p.Arg47=)
c.407-687G= (n.407-687G=)
n.685G=
17g.39872357G>TCA399279654ZPBP2c.494G>T (p.Arg165Ile)
c.428G>T (p.Arg143Ile)
c.140G>T (p.Arg47Ile)
c.407-687G>T (n.407-687G>T)
n.685G>T
17g.39872358A>CCA399279657ZPBP2c.495A>C (p.Arg165Ser)
c.429A>C (p.Arg143Ser)
c.141A>C (p.Arg47Ser)
c.407-686A>C (n.407-686A>C)
n.686A>C
17g.39872358A>GCA499931709ZPBP2c.495A>G (p.Arg165=)
c.429A>G (p.Arg143=)
c.141A>G (p.Arg47=)
c.407-686A>G (n.407-686A>G)
n.686A>G
17g.39872358A>TCA399279658ZPBP2c.495A>T (p.Arg165Ser)
c.429A>T (p.Arg143Ser)
c.141A>T (p.Arg47Ser)
c.407-686A>T (n.407-686A>T)
n.686A>T
17g.39872359G>ACA399279659ZPBP2c.496G>A (p.Val166Met)
c.430G>A (p.Val144Met)
c.142G>A (p.Val48Met)
c.407-685G>A (n.407-685G>A)
n.687G>A
17g.39872359G>CCA399279660ZPBP2c.496G>C (p.Val166Leu)
c.430G>C (p.Val144Leu)
c.142G>C (p.Val48Leu)
c.407-685G>C (n.407-685G>C)
n.687G>C
17g.39872359G>TCA399279661ZPBP2c.496G>T (p.Val166Leu)
c.430G>T (p.Val144Leu)
c.142G>T (p.Val48Leu)
c.407-685G>T (n.407-685G>T)
n.687G>T
17g.39872360T>ACA399279663ZPBP2c.497T>A (p.Val166Glu)
c.431T>A (p.Val144Glu)
c.143T>A (p.Val48Glu)
c.407-684T>A (n.407-684T>A)
n.688T>A
17g.39872360T>CCA399279662ZPBP2c.497T>C (p.Val166Ala)
c.431T>C (p.Val144Ala)
c.143T>C (p.Val48Ala)
c.407-684T>C (n.407-684T>C)
n.688T>C
17g.39872360T>GCA8535968ZPBP2c.497T>G (p.Val166Gly)
c.431T>G (p.Val144Gly)
c.143T>G (p.Val48Gly)
c.407-684T>G (n.407-684T>G)
n.688T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872360T=CA2259290873ZPBP2c.497T= (p.Val166=)
c.431T= (p.Val144=)
c.143T= (p.Val48=)
c.407-684T= (n.407-684T=)
n.688T=
17g.39872361G>ACA8535969ZPBP2c.498G>A (p.Val166=)
c.432G>A (p.Val144=)
c.144G>A (p.Val48=)
c.407-683G>A (n.407-683G>A)
n.689G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872361G>CCA499931711ZPBP2c.498G>C (p.Val166=)
c.432G>C (p.Val144=)
c.144G>C (p.Val48=)
c.407-683G>C (n.407-683G>C)
n.689G>C
17g.39872361G=CA2259290874ZPBP2c.498G= (p.Val166=)
c.432G= (p.Val144=)
c.144G= (p.Val48=)
c.407-683G= (n.407-683G=)
n.689G=
17g.39872361G>TCA499931712ZPBP2c.498G>T (p.Val166=)
c.432G>T (p.Val144=)
c.144G>T (p.Val48=)
c.407-683G>T (n.407-683G>T)
n.689G>T
 dbSNP
17g.39872362C>ACA399279666ZPBP2c.499C>A (p.Leu167Met)
c.433C>A (p.Leu145Met)
c.145C>A (p.Leu49Met)
c.407-682C>A (n.407-682C>A)
n.690C>A
17g.39872362C>GCA399279669ZPBP2c.499C>G (p.Leu167Val)
c.433C>G (p.Leu145Val)
c.145C>G (p.Leu49Val)
c.407-682C>G (n.407-682C>G)
n.690C>G
17g.39872362C>TCA499931713ZPBP2c.499C>T (p.Leu167=)
c.433C>T (p.Leu145=)
c.145C>T (p.Leu49=)
c.407-682C>T (n.407-682C>T)
n.690C>T
17g.39872363T>ACA399279671ZPBP2c.500T>A (p.Leu167Gln)
c.434T>A (p.Leu145Gln)
c.146T>A (p.Leu49Gln)
c.407-681T>A (n.407-681T>A)
n.691T>A
17g.39872363T>CCA399279674ZPBP2c.500T>C (p.Leu167Pro)
c.434T>C (p.Leu145Pro)
c.146T>C (p.Leu49Pro)
c.407-681T>C (n.407-681T>C)
n.691T>C
17g.39872363T>GCA399279676ZPBP2c.500T>G (p.Leu167Arg)
c.434T>G (p.Leu145Arg)
c.146T>G (p.Leu49Arg)
c.407-681T>G (n.407-681T>G)
n.691T>G
 dbSNP
17g.39872364G>ACA499931714ZPBP2c.501G>A (p.Leu167=)
c.435G>A (p.Leu145=)
c.147G>A (p.Leu49=)
c.407-680G>A (n.407-680G>A)
n.692G>A
 dbSNP gnomAD v4
17g.39872364G>CCA499931715ZPBP2c.501G>C (p.Leu167=)
c.435G>C (p.Leu145=)
c.147G>C (p.Leu49=)
c.407-680G>C (n.407-680G>C)
n.692G>C
17g.39872364G=CA2259290875ZPBP2c.501G= (p.Leu167=)
c.435G= (p.Leu145=)
c.147G= (p.Leu49=)
c.407-680G= (n.407-680G=)
n.692G=
17g.39872364G>TCA499931716ZPBP2c.501G>T (p.Leu167=)
c.435G>T (p.Leu145=)
c.147G>T (p.Leu49=)
c.407-680G>T (n.407-680G>T)
n.692G>T
17g.39872365A>CCA399279677ZPBP2c.502A>C (p.Lys168Gln)
c.436A>C (p.Lys146Gln)
c.148A>C (p.Lys50Gln)
c.407-679A>C (n.407-679A>C)
n.693A>C
17g.39872365A>GCA399279679ZPBP2c.502A>G (p.Lys168Glu)
c.436A>G (p.Lys146Glu)
c.148A>G (p.Lys50Glu)
c.407-679A>G (n.407-679A>G)
n.693A>G
17g.39872365A>TCA399279678ZPBP2c.502A>T (p.Lys168Ter)
c.436A>T (p.Lys146Ter)
c.148A>T (p.Lys50Ter)
c.407-679A>T (n.407-679A>T)
n.693A>T
17g.39872366A=CA2259290876ZPBP2c.503A= (p.Lys168=)
c.437A= (p.Lys146=)
c.149A= (p.Lys50=)
c.407-678A= (n.407-678A=)
n.694A=
17g.39872366A>CCA399279680ZPBP2c.503A>C (p.Lys168Thr)
c.437A>C (p.Lys146Thr)
c.149A>C (p.Lys50Thr)
c.407-678A>C (n.407-678A>C)
n.694A>C
 dbSNP gnomAD v3 gnomAD v4
17g.39872366A>GCA399279681ZPBP2c.503A>G (p.Lys168Arg)
c.437A>G (p.Lys146Arg)
c.149A>G (p.Lys50Arg)
c.407-678A>G (n.407-678A>G)
n.694A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39872366A>TCA399279683ZPBP2c.503A>T (p.Lys168Met)
c.437A>T (p.Lys146Met)
c.149A>T (p.Lys50Met)
c.407-678A>T (n.407-678A>T)
n.694A>T
17g.39872367G>ACA499931717ZPBP2c.504G>A (p.Lys168=)
c.438G>A (p.Lys146=)
c.150G>A (p.Lys50=)
c.407-677G>A (n.407-677G>A)
n.695G>A
17g.39872367G>CCA399279684ZPBP2c.504G>C (p.Lys168Asn)
c.438G>C (p.Lys146Asn)
c.150G>C (p.Lys50Asn)
c.407-677G>C (n.407-677G>C)
n.695G>C
17g.39872367G>TCA399279686ZPBP2c.504G>T (p.Lys168Asn)
c.438G>T (p.Lys146Asn)
c.150G>T (p.Lys50Asn)
c.407-677G>T (n.407-677G>T)
n.695G>T
17g.39872368A>CCA399279689ZPBP2c.505A>C (p.Lys169Gln)
c.439A>C (p.Lys147Gln)
c.151A>C (p.Lys51Gln)
c.407-676A>C (n.407-676A>C)
n.696A>C
 gnomAD v4
17g.39872368A>GCA399279693ZPBP2c.505A>G (p.Lys169Glu)
c.439A>G (p.Lys147Glu)
c.151A>G (p.Lys51Glu)
c.407-676A>G (n.407-676A>G)
n.696A>G
17g.39872368A>TCA399279700ZPBP2c.505A>T (p.Lys169Ter)
c.439A>T (p.Lys147Ter)
c.151A>T (p.Lys51Ter)
c.407-676A>T (n.407-676A>T)
n.696A>T
17g.39872369A>CCA399279704ZPBP2c.506A>C (p.Lys169Thr)
c.440A>C (p.Lys147Thr)
c.152A>C (p.Lys51Thr)
c.407-675A>C (n.407-675A>C)
n.697A>C
17g.39872369A>GCA399279705ZPBP2c.506A>G (p.Lys169Arg)
c.440A>G (p.Lys147Arg)
c.152A>G (p.Lys51Arg)
c.407-675A>G (n.407-675A>G)
n.697A>G
17g.39872369A>TCA399279706ZPBP2c.506A>T (p.Lys169Ile)
c.440A>T (p.Lys147Ile)
c.152A>T (p.Lys51Ile)
c.407-675A>T (n.407-675A>T)
n.697A>T
17g.39872370A>CCA399279707ZPBP2c.507A>C (p.Lys169Asn)
c.441A>C (p.Lys147Asn)
c.153A>C (p.Lys51Asn)
c.407-674A>C (n.407-674A>C)
n.698A>C
17g.39872370A>GCA499931718ZPBP2c.507A>G (p.Lys169=)
c.441A>G (p.Lys147=)
c.153A>G (p.Lys51=)
c.407-674A>G (n.407-674A>G)
n.698A>G
17g.39872370A>TCA399279708ZPBP2c.507A>T (p.Lys169Asn)
c.441A>T (p.Lys147Asn)
c.153A>T (p.Lys51Asn)
c.407-674A>T (n.407-674A>T)
n.698A>T
17g.39872371A=CA2259290877ZPBP2c.508A= (p.Ile170=)
c.442A= (p.Ile148=)
c.154A= (p.Ile52=)
c.407-673A= (n.407-673A=)
n.699A=
17g.39872371A>CCA399279710ZPBP2c.508A>C (p.Ile170Leu)
c.442A>C (p.Ile148Leu)
c.154A>C (p.Ile52Leu)
c.407-673A>C (n.407-673A>C)
n.699A>C
17g.39872371A>GCA399279718ZPBP2c.508A>G (p.Ile170Val)
c.442A>G (p.Ile148Val)
c.154A>G (p.Ile52Val)
c.407-673A>G (n.407-673A>G)
n.699A>G
 dbSNP gnomAD v4
17g.39872371A>TCA399279715ZPBP2c.508A>T (p.Ile170Phe)
c.442A>T (p.Ile148Phe)
c.154A>T (p.Ile52Phe)
c.407-673A>T (n.407-673A>T)
n.699A>T
17g.39872372T>ACA399279719ZPBP2c.509T>A (p.Ile170Asn)
c.443T>A (p.Ile148Asn)
c.155T>A (p.Ile52Asn)
c.407-672T>A (n.407-672T>A)
n.700T>A
17g.39872372T>CCA399279721ZPBP2c.509T>C (p.Ile170Thr)
c.443T>C (p.Ile148Thr)
c.155T>C (p.Ile52Thr)
c.407-672T>C (n.407-672T>C)
n.700T>C
17g.39872372T>GCA399279723ZPBP2c.509T>G (p.Ile170Ser)
c.443T>G (p.Ile148Ser)
c.155T>G (p.Ile52Ser)
c.407-672T>G (n.407-672T>G)
n.700T>G
17g.39872373C>ACA499931720ZPBP2c.510C>A (p.Ile170=)
c.444C>A (p.Ile148=)
c.156C>A (p.Ile52=)
c.407-671C>A (n.407-671C>A)
n.701C>A
17g.39872373C>GCA399279726ZPBP2c.510C>G (p.Ile170Met)
c.444C>G (p.Ile148Met)
c.156C>G (p.Ile52Met)
c.407-671C>G (n.407-671C>G)
n.701C>G
17g.39872373C>TCA499931719ZPBP2c.510C>T (p.Ile170=)
c.444C>T (p.Ile148=)
c.156C>T (p.Ile52=)
c.407-671C>T (n.407-671C>T)
n.701C>T
17g.39872374T>ACA399279731ZPBP2c.511T>A (p.Leu171Met)
c.445T>A (p.Leu149Met)
c.157T>A (p.Leu53Met)
c.407-670T>A (n.407-670T>A)
n.702T>A
17g.39872374T>CCA499931721ZPBP2c.511T>C (p.Leu171=)
c.445T>C (p.Leu149=)
c.157T>C (p.Leu53=)
c.407-670T>C (n.407-670T>C)
n.702T>C
17g.39872374T>GCA399279733ZPBP2c.511T>G (p.Leu171Val)
c.445T>G (p.Leu149Val)
c.157T>G (p.Leu53Val)
c.407-670T>G (n.407-670T>G)
n.702T>G
 gnomAD v4
17g.39872375T>ACA399279736ZPBP2c.512T>A (p.Leu171Ter)
c.446T>A (p.Leu149Ter)
c.158T>A (p.Leu53Ter)
c.407-669T>A (n.407-669T>A)
n.703T>A
17g.39872375T>CCA399279737ZPBP2c.512T>C (p.Leu171Ser)
c.446T>C (p.Leu149Ser)
c.158T>C (p.Leu53Ser)
c.407-669T>C (n.407-669T>C)
n.703T>C
17g.39872375T>GCA399279743ZPBP2c.512T>G (p.Leu171Trp)
c.446T>G (p.Leu149Trp)
c.158T>G (p.Leu53Trp)
c.407-669T>G (n.407-669T>G)
n.703T>G
 gnomAD v4
17g.39872376G>ACA499931722ZPBP2c.513G>A (p.Leu171=)
c.447G>A (p.Leu149=)
c.159G>A (p.Leu53=)
c.407-668G>A (n.407-668G>A)
n.704G>A
17g.39872376G>CCA399279746ZPBP2c.513G>C (p.Leu171Phe)
c.447G>C (p.Leu149Phe)
c.159G>C (p.Leu53Phe)
c.407-668G>C (n.407-668G>C)
n.704G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39872376G=CA2259290878ZPBP2c.513G= (p.Leu171=)
c.447G= (p.Leu149=)
c.159G= (p.Leu53=)
c.407-668G= (n.407-668G=)
n.704G=
17g.39872376G>TCA399279747ZPBP2c.513G>T (p.Leu171Phe)
c.447G>T (p.Leu149Phe)
c.159G>T (p.Leu53Phe)
c.407-668G>T (n.407-668G>T)
n.704G>T
17g.39872377G>ACA399279752ZPBP2c.514G>A (p.Asp172Asn)
c.448G>A (p.Asp150Asn)
c.160G>A (p.Asp54Asn)
c.407-667G>A (n.407-667G>A)
n.705G>A
 dbSNP gnomAD v3 gnomAD v4
17g.39872377G>CCA399279751ZPBP2c.514G>C (p.Asp172His)
c.448G>C (p.Asp150His)
c.160G>C (p.Asp54His)
c.407-667G>C (n.407-667G>C)
n.705G>C
17g.39872377G=CA2259290879ZPBP2c.514G= (p.Asp172=)
c.448G= (p.Asp150=)
c.160G= (p.Asp54=)
c.407-667G= (n.407-667G=)
n.705G=
17g.39872377G>TCA399279748ZPBP2c.514G>T (p.Asp172Tyr)
c.448G>T (p.Asp150Tyr)
c.160G>T (p.Asp54Tyr)
c.407-667G>T (n.407-667G>T)
n.705G>T
17g.39872378A>CCA399279755ZPBP2c.515A>C (p.Asp172Ala)
c.449A>C (p.Asp150Ala)
c.161A>C (p.Asp54Ala)
c.407-666A>C (n.407-666A>C)
n.706A>C
17g.39872378A>GCA399279756ZPBP2c.515A>G (p.Asp172Gly)
c.449A>G (p.Asp150Gly)
c.161A>G (p.Asp54Gly)
c.407-666A>G (n.407-666A>G)
n.706A>G
17g.39872378A>TCA399279757ZPBP2c.515A>T (p.Asp172Val)
c.449A>T (p.Asp150Val)
c.161A>T (p.Asp54Val)
c.407-666A>T (n.407-666A>T)
n.706A>T
17g.39872379T>ACA399279758ZPBP2c.516T>A (p.Asp172Glu)
c.450T>A (p.Asp150Glu)
c.162T>A (p.Asp54Glu)
c.407-665T>A (n.407-665T>A)
n.707T>A
17g.39872379T>CCA499931723ZPBP2c.516T>C (p.Asp172=)
c.450T>C (p.Asp150=)
c.162T>C (p.Asp54=)
c.407-665T>C (n.407-665T>C)
n.707T>C
17g.39872379T>GCA399279759ZPBP2c.516T>G (p.Asp172Glu)
c.450T>G (p.Asp150Glu)
c.162T>G (p.Asp54Glu)
c.407-665T>G (n.407-665T>G)
n.707T>G
17g.39872379_39872380delinsTACA2259290880ZPBP2c.516_517delinsTA (p.Asp172=)
c.450_451delinsTA (p.Asp150=)
c.162_163delinsTA (p.Asp54=)
c.407-665_407-664delinsTA (n.407-665_407-664delinsTA)
n.707_708delinsTA
17g.39872380delCA290455842ZPBP2c.517del (p.Ser173ValfsTer2)
c.451del (p.Ser151ValfsTer2)
c.163del (p.Ser55ValfsTer2)
c.407-664del (n.407-664del)
n.708del
 dbSNP gnomAD v4
17g.39872380A=CA2259290882ZPBP2c.517A= (p.Ser173=)
c.451A= (p.Ser151=)
c.163A= (p.Ser55=)
c.407-664A= (n.407-664A=)
n.708A=
17g.39872380A>CCA399279763ZPBP2c.517A>C (p.Ser173Arg)
c.451A>C (p.Ser151Arg)
c.163A>C (p.Ser55Arg)
c.407-664A>C (n.407-664A>C)
n.708A>C
 dbSNP gnomAD v4
17g.39872380A>GCA399279764ZPBP2c.517A>G (p.Ser173Gly)
c.451A>G (p.Ser151Gly)
c.163A>G (p.Ser55Gly)
c.407-664A>G (n.407-664A>G)
n.708A>G
17g.39872380A>TCA399279766ZPBP2c.517A>T (p.Ser173Cys)
c.451A>T (p.Ser151Cys)
c.163A>T (p.Ser55Cys)
c.407-664A>T (n.407-664A>T)
n.708A>T
17g.39872380_39872381delinsAGCA2259290881ZPBP2c.517_518delinsAG (p.Ser173=)
c.451_452delinsAG (p.Ser151=)
c.163_164delinsAG (p.Ser55=)
c.407-664_407-663delinsAG (n.407-664_407-663delinsAG)
n.708_709delinsAG
17g.39872381delCA771906275ZPBP2c.518del (p.Ser173IlefsTer2)
c.452del (p.Ser151IlefsTer2)
c.164del (p.Ser55IlefsTer2)
c.407-663del (n.407-663del)
n.709del
 dbSNP
17g.39872381G>ACA399279772ZPBP2c.518G>A (p.Ser173Asn)
c.452G>A (p.Ser151Asn)
c.164G>A (p.Ser55Asn)
c.407-663G>A (n.407-663G>A)
n.709G>A
17g.39872381G>CCA399279773ZPBP2c.518G>C (p.Ser173Thr)
c.452G>C (p.Ser151Thr)
c.164G>C (p.Ser55Thr)
c.407-663G>C (n.407-663G>C)
n.709G>C
17g.39872381G=CA2259290883ZPBP2c.518G= (p.Ser173=)
c.452G= (p.Ser151=)
c.164G= (p.Ser55=)
c.407-663G= (n.407-663G=)
n.709G=
17g.39872381G>TCA8535970ZPBP2c.518G>T (p.Ser173Ile)
c.452G>T (p.Ser151Ile)
c.164G>T (p.Ser55Ile)
c.407-663G>T (n.407-663G>T)
n.709G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872381_39872382delinsGTCA2259290884ZPBP2c.518_519delinsGT (p.Ser173=)
c.452_453delinsGT (p.Ser151=)
c.164_165delinsGT (p.Ser55=)
c.407-663_407-662delinsGT (n.407-663_407-662delinsGT)
n.709_710delinsGT
17g.39872381_39872382delinsTCCA290455854ZPBP2c.518_519delinsTC (p.Ser173Ile)
c.452_453delinsTC (p.Ser151Ile)
c.164_165delinsTC (p.Ser55Ile)
c.407-663_407-662delinsTC (n.407-663_407-662delinsTC)
n.709_710delinsTC
 dbSNP
17g.39872382T>ACA399279778ZPBP2c.519T>A (p.Ser173Arg)
c.453T>A (p.Ser151Arg)
c.165T>A (p.Ser55Arg)
c.407-662T>A (n.407-662T>A)
n.710T>A
17g.39872382T>CCA8535971ZPBP2c.519T>C (p.Ser173=)
c.453T>C (p.Ser151=)
c.165T>C (p.Ser55=)
c.407-662T>C (n.407-662T>C)
n.710T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872382T>GCA399279776ZPBP2c.519T>G (p.Ser173Arg)
c.453T>G (p.Ser151Arg)
c.165T>G (p.Ser55Arg)
c.407-662T>G (n.407-662T>G)
n.710T>G
17g.39872382T=CA2259290885ZPBP2c.519T= (p.Ser173=)
c.453T= (p.Ser151=)
c.165T= (p.Ser55=)
c.407-662T= (n.407-662T=)
n.710T=
17g.39872383C>ACA399279783ZPBP2c.520C>A (p.Leu174Ile)
c.454C>A (p.Leu152Ile)
c.166C>A (p.Leu56Ile)
c.407-661C>A (n.407-661C>A)
n.711C>A
 gnomAD v4
17g.39872383C=CA2259290886ZPBP2c.520C= (p.Leu174=)
c.454C= (p.Leu152=)
c.166C= (p.Leu56=)
c.407-661C= (n.407-661C=)
n.711C=
17g.39872383C>GCA399279784ZPBP2c.520C>G (p.Leu174Val)
c.454C>G (p.Leu152Val)
c.166C>G (p.Leu56Val)
c.407-661C>G (n.407-661C>G)
n.711C>G
17g.39872383C>TCA8535972ZPBP2c.520C>T (p.Leu174=)
c.454C>T (p.Leu152=)
c.166C>T (p.Leu56=)
c.407-661C>T (n.407-661C>T)
n.711C>T
 dbSNP ExAC gnomAD v2
17g.39872384T>ACA399279788ZPBP2c.521T>A (p.Leu174Gln)
c.455T>A (p.Leu152Gln)
c.167T>A (p.Leu56Gln)
c.407-660T>A (n.407-660T>A)
n.712T>A
17g.39872384T>CCA399279789ZPBP2c.521T>C (p.Leu174Pro)
c.455T>C (p.Leu152Pro)
c.167T>C (p.Leu56Pro)
c.407-660T>C (n.407-660T>C)
n.712T>C
17g.39872384T>GCA399279792ZPBP2c.521T>G (p.Leu174Arg)
c.455T>G (p.Leu152Arg)
c.167T>G (p.Leu56Arg)
c.407-660T>G (n.407-660T>G)
n.712T>G
 gnomAD v4
17g.39872384dupCA8535973ZPBP2c.521dup (p.Ile175AsnfsTer3)
c.455dup (p.Ile153AsnfsTer3)
c.167dup (p.Ile57AsnfsTer3)
c.407-660dup (n.407-660dup)
n.712dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872385A=CA2259290887ZPBP2c.522A= (p.Leu174=)
c.456A= (p.Leu152=)
c.168A= (p.Leu56=)
c.407-659A= (n.407-659A=)
n.713A=
17g.39872385A>CCA290455880ZPBP2c.522A>C (p.Leu174=)
c.456A>C (p.Leu152=)
c.168A>C (p.Leu56=)
c.407-659A>C (n.407-659A>C)
n.713A>C
 dbSNP gnomAD v4
17g.39872385A>GCA499931724ZPBP2c.522A>G (p.Leu174=)
c.456A>G (p.Leu152=)
c.168A>G (p.Leu56=)
c.407-659A>G (n.407-659A>G)
n.713A>G
17g.39872385A>TCA499931725ZPBP2c.522A>T (p.Leu174=)
c.456A>T (p.Leu152=)
c.168A>T (p.Leu56=)
c.407-659A>T (n.407-659A>T)
n.713A>T
17g.39872386A=CA2259290888ZPBP2c.523A= (p.Ile175=)
c.457A= (p.Ile153=)
c.169A= (p.Ile57=)
c.407-658A= (n.407-658A=)
n.714A=
17g.39872386A>CCA8535974ZPBP2c.523A>C (p.Ile175Leu)
c.457A>C (p.Ile153Leu)
c.169A>C (p.Ile57Leu)
c.407-658A>C (n.407-658A>C)
n.714A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872386A>GCA399279794ZPBP2c.523A>G (p.Ile175Val)
c.457A>G (p.Ile153Val)
c.169A>G (p.Ile57Val)
c.407-658A>G (n.407-658A>G)
n.714A>G
17g.39872386A>TCA399279796ZPBP2c.523A>T (p.Ile175Phe)
c.457A>T (p.Ile153Phe)
c.169A>T (p.Ile57Phe)
c.407-658A>T (n.407-658A>T)
n.714A>T
17g.39872386_39872387delinsATCA2259290889ZPBP2c.523_524delinsAT (p.Ile175=)
c.457_458delinsAT (p.Ile153=)
c.169_170delinsAT (p.Ile57=)
c.407-658_407-657delinsAT (n.407-658_407-657delinsAT)
n.714_715delinsAT
17g.39872387T>ACA399279799ZPBP2c.524T>A (p.Ile175Asn)
c.458T>A (p.Ile153Asn)
c.170T>A (p.Ile57Asn)
c.407-657T>A (n.407-657T>A)
n.715T>A
17g.39872387T>CCA399279802ZPBP2c.524T>C (p.Ile175Thr)
c.458T>C (p.Ile153Thr)
c.170T>C (p.Ile57Thr)
c.407-657T>C (n.407-657T>C)
n.715T>C
17g.39872387T>GCA399279803ZPBP2c.524T>G (p.Ile175Ser)
c.458T>G (p.Ile153Ser)
c.170T>G (p.Ile57Ser)
c.407-657T>G (n.407-657T>G)
n.715T>G
17g.39872389delCA8535975ZPBP2c.526del (p.Ser176LeufsTer8)
c.460del (p.Ser154LeufsTer8)
c.172del (p.Ser58LeufsTer8)
c.407-655del (n.407-655del)
n.717del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872388T>ACA499931726ZPBP2c.525T>A (p.Ile175=)
c.459T>A (p.Ile153=)
c.171T>A (p.Ile57=)
c.407-656T>A (n.407-656T>A)
n.716T>A
17g.39872388T>CCA499931727ZPBP2c.525T>C (p.Ile175=)
c.459T>C (p.Ile153=)
c.171T>C (p.Ile57=)
c.407-656T>C (n.407-656T>C)
n.716T>C
17g.39872388T>GCA399279807ZPBP2c.525T>G (p.Ile175Met)
c.459T>G (p.Ile153Met)
c.171T>G (p.Ile57Met)
c.407-656T>G (n.407-656T>G)
n.716T>G
17g.39872389T>ACA399279809ZPBP2c.526T>A (p.Ser176Thr)
c.460T>A (p.Ser154Thr)
c.172T>A (p.Ser58Thr)
c.407-655T>A (n.407-655T>A)
n.717T>A
17g.39872389T>CCA399279810ZPBP2c.526T>C (p.Ser176Pro)
c.460T>C (p.Ser154Pro)
c.172T>C (p.Ser58Pro)
c.407-655T>C (n.407-655T>C)
n.717T>C
 gnomAD v4
17g.39872389T>GCA399279811ZPBP2c.526T>G (p.Ser176Ala)
c.460T>G (p.Ser154Ala)
c.172T>G (p.Ser58Ala)
c.407-655T>G (n.407-655T>G)
n.717T>G
17g.39872390C>ACA399279812ZPBP2c.527C>A (p.Ser176Tyr)
c.461C>A (p.Ser154Tyr)
c.173C>A (p.Ser58Tyr)
c.407-654C>A (n.407-654C>A)
n.718C>A
17g.39872390C>GCA399279813ZPBP2c.527C>G (p.Ser176Cys)
c.461C>G (p.Ser154Cys)
c.173C>G (p.Ser58Cys)
c.407-654C>G (n.407-654C>G)
n.718C>G
17g.39872390C>TCA399279815ZPBP2c.527C>T (p.Ser176Phe)
c.461C>T (p.Ser154Phe)
c.173C>T (p.Ser58Phe)
c.407-654C>T (n.407-654C>T)
n.718C>T
17g.39872391T>ACA499931728ZPBP2c.528T>A (p.Ser176=)
c.462T>A (p.Ser154=)
c.174T>A (p.Ser58=)
c.407-653T>A (n.407-653T>A)
n.719T>A
17g.39872391T>CCA499931730ZPBP2c.528T>C (p.Ser176=)
c.462T>C (p.Ser154=)
c.174T>C (p.Ser58=)
c.407-653T>C (n.407-653T>C)
n.719T>C
17g.39872391T>GCA499931729ZPBP2c.528T>G (p.Ser176=)
c.462T>G (p.Ser154=)
c.174T>G (p.Ser58=)
c.407-653T>G (n.407-653T>G)
n.719T>G
17g.39872392G>ACA399279817ZPBP2c.529G>A (p.Asp177Asn)
c.463G>A (p.Asp155Asn)
c.175G>A (p.Asp59Asn)
c.407-652G>A (n.407-652G>A)
n.720G>A
17g.39872392G>CCA399279819ZPBP2c.529G>C (p.Asp177His)
c.463G>C (p.Asp155His)
c.175G>C (p.Asp59His)
c.407-652G>C (n.407-652G>C)
n.720G>C
17g.39872392G>TCA399279820ZPBP2c.529G>T (p.Asp177Tyr)
c.463G>T (p.Asp155Tyr)
c.175G>T (p.Asp59Tyr)
c.407-652G>T (n.407-652G>T)
n.720G>T
17g.39872393A>CCA399279821ZPBP2c.530A>C (p.Asp177Ala)
c.464A>C (p.Asp155Ala)
c.176A>C (p.Asp59Ala)
c.407-651A>C (n.407-651A>C)
n.721A>C
17g.39872393A>GCA399279822ZPBP2c.530A>G (p.Asp177Gly)
c.464A>G (p.Asp155Gly)
c.176A>G (p.Asp59Gly)
c.407-651A>G (n.407-651A>G)
n.721A>G
17g.39872393A>TCA399279824ZPBP2c.530A>T (p.Asp177Val)
c.464A>T (p.Asp155Val)
c.176A>T (p.Asp59Val)
c.407-651A>T (n.407-651A>T)
n.721A>T
17g.39872394T>ACA399279825ZPBP2c.531T>A (p.Asp177Glu)
c.465T>A (p.Asp155Glu)
c.177T>A (p.Asp59Glu)
c.407-650T>A (n.407-650T>A)
n.722T>A
17g.39872394T>CCA499931731ZPBP2c.531T>C (p.Asp177=)
c.465T>C (p.Asp155=)
c.177T>C (p.Asp59=)
c.407-650T>C (n.407-650T>C)
n.722T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39872394T>GCA399279828ZPBP2c.531T>G (p.Asp177Glu)
c.465T>G (p.Asp155Glu)
c.177T>G (p.Asp59Glu)
c.407-650T>G (n.407-650T>G)
n.722T>G
17g.39872394T=CA2259290890ZPBP2c.531T= (p.Asp177=)
c.465T= (p.Asp155=)
c.177T= (p.Asp59=)
c.407-650T= (n.407-650T=)
n.722T=
17g.39872395T>ACA399279834ZPBP2c.532T>A (p.Leu178Met)
c.466T>A (p.Leu156Met)
c.178T>A (p.Leu60Met)
c.407-649T>A (n.407-649T>A)
n.723T>A
17g.39872395T>CCA499931732ZPBP2c.532T>C (p.Leu178=)
c.466T>C (p.Leu156=)
c.178T>C (p.Leu60=)
c.407-649T>C (n.407-649T>C)
n.723T>C
17g.39872395T>GCA399279831ZPBP2c.532T>G (p.Leu178Val)
c.466T>G (p.Leu156Val)
c.178T>G (p.Leu60Val)
c.407-649T>G (n.407-649T>G)
n.723T>G
17g.39872396T>ACA399279837ZPBP2c.533T>A (p.Leu178Ter)
c.467T>A (p.Leu156Ter)
c.179T>A (p.Leu60Ter)
c.407-648T>A (n.407-648T>A)
n.724T>A
17g.39872396T>CCA399279842ZPBP2c.533T>C (p.Leu178Ser)
c.467T>C (p.Leu156Ser)
c.179T>C (p.Leu60Ser)
c.407-648T>C (n.407-648T>C)
n.724T>C
17g.39872396T>GCA399279839ZPBP2c.533T>G (p.Leu178Trp)
c.467T>G (p.Leu156Trp)
c.179T>G (p.Leu60Trp)
c.407-648T>G (n.407-648T>G)
n.724T>G
17g.39872397G>ACA499931733ZPBP2c.534G>A (p.Leu178=)
c.468G>A (p.Leu156=)
c.180G>A (p.Leu60=)
c.407-647G>A (n.407-647G>A)
n.725G>A
17g.39872397G>CCA399279848ZPBP2c.534G>C (p.Leu178Phe)
c.468G>C (p.Leu156Phe)
c.180G>C (p.Leu60Phe)
c.407-647G>C (n.407-647G>C)
n.725G>C
17g.39872397G>TCA399279851ZPBP2c.534G>T (p.Leu178Phe)
c.468G>T (p.Leu156Phe)
c.180G>T (p.Leu60Phe)
c.407-647G>T (n.407-647G>T)
n.725G>T
 COSMIC
17g.39872398T>ACA399279859ZPBP2c.535T>A (p.Ser179Thr)
c.469T>A (p.Ser157Thr)
c.181T>A (p.Ser61Thr)
c.407-646T>A (n.407-646T>A)
n.726T>A
17g.39872398T>CCA399279861ZPBP2c.535T>C (p.Ser179Pro)
c.469T>C (p.Ser157Pro)
c.181T>C (p.Ser61Pro)
c.407-646T>C (n.407-646T>C)
n.726T>C
17g.39872398T>GCA399279864ZPBP2c.535T>G (p.Ser179Ala)
c.469T>G (p.Ser157Ala)
c.181T>G (p.Ser61Ala)
c.407-646T>G (n.407-646T>G)
n.726T>G
17g.39872399C>ACA399279867ZPBP2c.536C>A (p.Ser179Ter)
c.470C>A (p.Ser157Ter)
c.182C>A (p.Ser61Ter)
c.407-645C>A (n.407-645C>A)
n.727C>A
17g.39872399C>GCA399279869ZPBP2c.536C>G (p.Ser179Ter)
c.470C>G (p.Ser157Ter)
c.182C>G (p.Ser61Ter)
c.407-645C>G (n.407-645C>G)
n.727C>G
17g.39872399C>TCA399279872ZPBP2c.536C>T (p.Ser179Leu)
c.470C>T (p.Ser157Leu)
c.182C>T (p.Ser61Leu)
c.407-645C>T (n.407-645C>T)
n.727C>T
17g.39872400A=CA2259290891ZPBP2c.537A= (p.Ser179=)
c.471A= (p.Ser157=)
c.183A= (p.Ser61=)
c.407-644A= (n.407-644A=)
n.728A=
17g.39872400A>CCA499931734ZPBP2c.537A>C (p.Ser179=)
c.471A>C (p.Ser157=)
c.183A>C (p.Ser61=)
c.407-644A>C (n.407-644A>C)
n.728A>C
17g.39872400A>GCA499931735ZPBP2c.537A>G (p.Ser179=)
c.471A>G (p.Ser157=)
c.183A>G (p.Ser61=)
c.407-644A>G (n.407-644A>G)
n.728A>G
 dbSNP gnomAD v3 gnomAD v4
17g.39872400A>TCA499931736ZPBP2c.537A>T (p.Ser179=)
c.471A>T (p.Ser157=)
c.183A>T (p.Ser61=)
c.407-644A>T (n.407-644A>T)
n.728A>T
17g.39872401T>ACA399279876ZPBP2c.538T>A (p.Cys180Ser)
c.472T>A (p.Cys158Ser)
c.184T>A (p.Cys62Ser)
c.407-643T>A (n.407-643T>A)
n.729T>A
17g.39872401T>CCA399279878ZPBP2c.538T>C (p.Cys180Arg)
c.472T>C (p.Cys158Arg)
c.184T>C (p.Cys62Arg)
c.407-643T>C (n.407-643T>C)
n.729T>C
 dbSNP gnomAD v4
17g.39872401T>GCA399279881ZPBP2c.538T>G (p.Cys180Gly)
c.472T>G (p.Cys158Gly)
c.184T>G (p.Cys62Gly)
c.407-643T>G (n.407-643T>G)
n.729T>G
17g.39872401T=CA2259290893ZPBP2c.538T= (p.Cys180=)
c.472T= (p.Cys158=)
c.184T= (p.Cys62=)
c.407-643T= (n.407-643T=)
n.729T=
17g.39872401_39872402delinsTGCA2259290892ZPBP2c.538_539delinsTG (p.Cys180=)
c.472_473delinsTG (p.Cys158=)
c.184_185delinsTG (p.Cys62=)
c.407-643_407-642delinsTG (n.407-643_407-642delinsTG)
n.729_730delinsTG
17g.39872402delCA8535976ZPBP2c.539del (p.Cys180SerfsTer4)
c.473del (p.Cys158SerfsTer4)
c.185del (p.Cys62SerfsTer4)
c.407-642del (n.407-642del)
n.730del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.39872402G>ACA8535977ZPBP2c.539G>A (p.Cys180Tyr)
c.473G>A (p.Cys158Tyr)
c.185G>A (p.Cys62Tyr)
c.407-642G>A (n.407-642G>A)
n.730G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872402G>CCA399279884ZPBP2c.539G>C (p.Cys180Ser)
c.473G>C (p.Cys158Ser)
c.185G>C (p.Cys62Ser)
c.407-642G>C (n.407-642G>C)
n.730G>C
17g.39872402G=CA2259290894ZPBP2c.539G= (p.Cys180=)
c.473G= (p.Cys158=)
c.185G= (p.Cys62=)
c.407-642G= (n.407-642G=)
n.730G=
17g.39872402G>TCA399279886ZPBP2c.539G>T (p.Cys180Phe)
c.473G>T (p.Cys158Phe)
c.185G>T (p.Cys62Phe)
c.407-642G>T (n.407-642G>T)
n.730G>T
 dbSNP
17g.39872407_39872419delCA2637649650ZPBP2c.544_556del (p.Val182HisfsTer20)
c.478_490del (p.Val160HisfsTer20)
c.190_202del (p.Val64HisfsTer20)
c.407-637_407-625del (n.407-637_407-625del)
n.735_747del
 gnomAD v4
17g.39872403C>ACA399279888ZPBP2c.540C>A (p.Cys180Ter)
c.474C>A (p.Cys158Ter)
c.186C>A (p.Cys62Ter)
c.407-641C>A (n.407-641C>A)
n.731C>A
17g.39872403C>GCA399279891ZPBP2c.540C>G (p.Cys180Trp)
c.474C>G (p.Cys158Trp)
c.186C>G (p.Cys62Trp)
c.407-641C>G (n.407-641C>G)
n.731C>G
17g.39872403C>TCA499931737ZPBP2c.540C>T (p.Cys180=)
c.474C>T (p.Cys158=)
c.186C>T (p.Cys62=)
c.407-641C>T (n.407-641C>T)
n.731C>T
 COSMIC
17g.39872404C>ACA399279894ZPBP2c.541C>A (p.His181Asn)
c.475C>A (p.His159Asn)
c.187C>A (p.His63Asn)
c.407-640C>A (n.407-640C>A)
n.732C>A
17g.39872404C>GCA399279897ZPBP2c.541C>G (p.His181Asp)
c.475C>G (p.His159Asp)
c.187C>G (p.His63Asp)
c.407-640C>G (n.407-640C>G)
n.732C>G
 gnomAD v4
17g.39872404C>TCA399279899ZPBP2c.541C>T (p.His181Tyr)
c.475C>T (p.His159Tyr)
c.187C>T (p.His63Tyr)
c.407-640C>T (n.407-640C>T)
n.732C>T
17g.39872405A=CA2259290895ZPBP2c.542A= (p.His181=)
c.476A= (p.His159=)
c.188A= (p.His63=)
c.407-639A= (n.407-639A=)
n.733A=
17g.39872405A>CCA399279903ZPBP2c.542A>C (p.His181Pro)
c.476A>C (p.His159Pro)
c.188A>C (p.His63Pro)
c.407-639A>C (n.407-639A>C)
n.733A>C
17g.39872405A>GCA399279905ZPBP2c.542A>G (p.His181Arg)
c.476A>G (p.His159Arg)
c.188A>G (p.His63Arg)
c.407-639A>G (n.407-639A>G)
n.733A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39872405A>TCA399279908ZPBP2c.542A>T (p.His181Leu)
c.476A>T (p.His159Leu)
c.188A>T (p.His63Leu)
c.407-639A>T (n.407-639A>T)
n.733A>T
17g.39872406T>ACA399279910ZPBP2c.543T>A (p.His181Gln)
c.477T>A (p.His159Gln)
c.189T>A (p.His63Gln)
c.407-638T>A (n.407-638T>A)
n.734T>A
17g.39872406T>CCA499931738ZPBP2c.543T>C (p.His181=)
c.477T>C (p.His159=)
c.189T>C (p.His63=)
c.407-638T>C (n.407-638T>C)
n.734T>C
 dbSNP gnomAD v2
17g.39872406T>GCA399279912ZPBP2c.543T>G (p.His181Gln)
c.477T>G (p.His159Gln)
c.189T>G (p.His63Gln)
c.407-638T>G (n.407-638T>G)
n.734T>G
17g.39872406T=CA2259290896ZPBP2c.543T= (p.His181=)
c.477T= (p.His159=)
c.189T= (p.His63=)
c.407-638T= (n.407-638T=)
n.734T=
17g.39872407G>ACA399279920ZPBP2c.544G>A (p.Val182Ile)
c.478G>A (p.Val160Ile)
c.190G>A (p.Val64Ile)
c.407-637G>A (n.407-637G>A)
n.735G>A
17g.39872407G>CCA399279922ZPBP2c.544G>C (p.Val182Leu)
c.478G>C (p.Val160Leu)
c.190G>C (p.Val64Leu)
c.407-637G>C (n.407-637G>C)
n.735G>C
17g.39872407G>TCA399279924ZPBP2c.544G>T (p.Val182Phe)
c.478G>T (p.Val160Phe)
c.190G>T (p.Val64Phe)
c.407-637G>T (n.407-637G>T)
n.735G>T
17g.39872408T>ACA399279931ZPBP2c.545T>A (p.Val182Asp)
c.479T>A (p.Val160Asp)
c.191T>A (p.Val64Asp)
c.407-636T>A (n.407-636T>A)
n.736T>A
17g.39872408T>CCA399279929ZPBP2c.545T>C (p.Val182Ala)
c.479T>C (p.Val160Ala)
c.191T>C (p.Val64Ala)
c.407-636T>C (n.407-636T>C)
n.736T>C
17g.39872408T>GCA399279926ZPBP2c.545T>G (p.Val182Gly)
c.479T>G (p.Val160Gly)
c.191T>G (p.Val64Gly)
c.407-636T>G (n.407-636T>G)
n.736T>G
17g.39872409C>ACA499931739ZPBP2c.546C>A (p.Val182=)
c.480C>A (p.Val160=)
c.192C>A (p.Val64=)
c.407-635C>A (n.407-635C>A)
n.737C>A
17g.39872409C=CA2259290897ZPBP2c.546C= (p.Val182=)
c.480C= (p.Val160=)
c.192C= (p.Val64=)
c.407-635C= (n.407-635C=)
n.737C=
17g.39872409C>GCA499931740ZPBP2c.546C>G (p.Val182=)
c.480C>G (p.Val160=)
c.192C>G (p.Val64=)
c.407-635C>G (n.407-635C>G)
n.737C>G
 dbSNP gnomAD v4
17g.39872409C>TCA499931741ZPBP2c.546C>T (p.Val182=)
c.480C>T (p.Val160=)
c.192C>T (p.Val64=)
c.407-635C>T (n.407-635C>T)
n.737C>T
17g.39872410A>CCA399279933ZPBP2c.547A>C (p.Ile183Leu)
c.481A>C (p.Ile161Leu)
c.193A>C (p.Ile65Leu)
c.407-634A>C (n.407-634A>C)
n.738A>C
17g.39872410A>GCA399279935ZPBP2c.547A>G (p.Ile183Val)
c.481A>G (p.Ile161Val)
c.193A>G (p.Ile65Val)
c.407-634A>G (n.407-634A>G)
n.738A>G
 gnomAD v4
17g.39872410A>TCA399279938ZPBP2c.547A>T (p.Ile183Leu)
c.481A>T (p.Ile161Leu)
c.193A>T (p.Ile65Leu)
c.407-634A>T (n.407-634A>T)
n.738A>T
17g.39872411T>ACA399279940ZPBP2c.548T>A (p.Ile183Lys)
c.482T>A (p.Ile161Lys)
c.194T>A (p.Ile65Lys)
c.407-633T>A (n.407-633T>A)
n.739T>A
17g.39872411T>CCA399279942ZPBP2c.548T>C (p.Ile183Thr)
c.482T>C (p.Ile161Thr)
c.194T>C (p.Ile65Thr)
c.407-633T>C (n.407-633T>C)
n.739T>C
 dbSNP gnomAD v2 gnomAD v4
17g.39872411T>GCA399279944ZPBP2c.548T>G (p.Ile183Arg)
c.482T>G (p.Ile161Arg)
c.194T>G (p.Ile65Arg)
c.407-633T>G (n.407-633T>G)
n.739T>G
17g.39872411T=CA2259290898ZPBP2c.548T= (p.Ile183=)
c.482T= (p.Ile161=)
c.194T= (p.Ile65=)
c.407-633T= (n.407-633T=)
n.739T=
17g.39872412A>CCA499931742ZPBP2c.549A>C (p.Ile183=)
c.483A>C (p.Ile161=)
c.195A>C (p.Ile65=)
c.407-632A>C (n.407-632A>C)
n.740A>C
17g.39872412A>GCA399279947ZPBP2c.549A>G (p.Ile183Met)
c.483A>G (p.Ile161Met)
c.195A>G (p.Ile65Met)
c.407-632A>G (n.407-632A>G)
n.740A>G
17g.39872412A>TCA499931743ZPBP2c.549A>T (p.Ile183=)
c.483A>T (p.Ile161=)
c.195A>T (p.Ile65=)
c.407-632A>T (n.407-632A>T)
n.740A>T
17g.39872413G>ACA399279950ZPBP2c.550G>A (p.Glu184Lys)
c.484G>A (p.Glu162Lys)
c.196G>A (p.Glu66Lys)
c.407-631G>A (n.407-631G>A)
n.741G>A
17g.39872413G>CCA399279951ZPBP2c.550G>C (p.Glu184Gln)
c.484G>C (p.Glu162Gln)
c.196G>C (p.Glu66Gln)
c.407-631G>C (n.407-631G>C)
n.741G>C
 gnomAD v4
17g.39872413G>TCA399279952ZPBP2c.550G>T (p.Glu184Ter)
c.484G>T (p.Glu162Ter)
c.196G>T (p.Glu66Ter)
c.407-631G>T (n.407-631G>T)
n.741G>T
17g.39872414A>CCA399279953ZPBP2c.551A>C (p.Glu184Ala)
c.485A>C (p.Glu162Ala)
c.197A>C (p.Glu66Ala)
c.407-630A>C (n.407-630A>C)
n.742A>C
17g.39872414A>GCA399279954ZPBP2c.551A>G (p.Glu184Gly)
c.485A>G (p.Glu162Gly)
c.197A>G (p.Glu66Gly)
c.407-630A>G (n.407-630A>G)
n.742A>G
17g.39872414A>TCA399279956ZPBP2c.551A>T (p.Glu184Val)
c.485A>T (p.Glu162Val)
c.197A>T (p.Glu66Val)
c.407-630A>T (n.407-630A>T)
n.742A>T
17g.39872415G>ACA499931745ZPBP2c.552G>A (p.Glu184=)
c.486G>A (p.Glu162=)
c.198G>A (p.Glu66=)
c.407-629G>A (n.407-629G>A)
n.743G>A
 gnomAD v4
17g.39872415G>CCA399279958ZPBP2c.552G>C (p.Glu184Asp)
c.486G>C (p.Glu162Asp)
c.198G>C (p.Glu66Asp)
c.407-629G>C (n.407-629G>C)
n.743G>C
17g.39872415G=CA2259290899ZPBP2c.552G= (p.Glu184=)
c.486G= (p.Glu162=)
c.198G= (p.Glu66=)
c.407-629G= (n.407-629G=)
n.743G=
17g.39872415G>TCA399279962ZPBP2c.552G>T (p.Glu184Asp)
c.486G>T (p.Glu162Asp)
c.198G>T (p.Glu66Asp)
c.407-629G>T (n.407-629G>T)
n.743G>T
 dbSNP gnomAD v4
17g.39872416C>ACA399279963ZPBP2c.553C>A (p.Pro185Thr)
c.487C>A (p.Pro163Thr)
c.199C>A (p.Pro67Thr)
c.407-628C>A (n.407-628C>A)
n.744C>A
17g.39872416C=CA2259290900ZPBP2c.553C= (p.Pro185=)
c.487C= (p.Pro163=)
c.199C= (p.Pro67=)
c.407-628C= (n.407-628C=)
n.744C=
17g.39872416C>GCA399279964ZPBP2c.553C>G (p.Pro185Ala)
c.487C>G (p.Pro163Ala)
c.199C>G (p.Pro67Ala)
c.407-628C>G (n.407-628C>G)
n.744C>G
17g.39872416C>TCA8535978ZPBP2c.553C>T (p.Pro185Ser)
c.487C>T (p.Pro163Ser)
c.199C>T (p.Pro67Ser)
c.407-628C>T (n.407-628C>T)
n.744C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872417C>ACA399279965ZPBP2c.554C>A (p.Pro185Gln)
c.488C>A (p.Pro163Gln)
c.200C>A (p.Pro67Gln)
c.407-627C>A (n.407-627C>A)
n.745C>A
17g.39872417C=CA2259290901ZPBP2c.554C= (p.Pro185=)
c.488C= (p.Pro163=)
c.200C= (p.Pro67=)
c.407-627C= (n.407-627C=)
n.745C=
17g.39872417C>GCA399279967ZPBP2c.554C>G (p.Pro185Arg)
c.488C>G (p.Pro163Arg)
c.200C>G (p.Pro67Arg)
c.407-627C>G (n.407-627C>G)
n.745C>G
 dbSNP gnomAD v4
17g.39872417C>TCA399279968ZPBP2c.554C>T (p.Pro185Leu)
c.488C>T (p.Pro163Leu)
c.200C>T (p.Pro67Leu)
c.407-627C>T (n.407-627C>T)
n.745C>T
 gnomAD v4
17g.39872418A>CCA499931746ZPBP2c.555A>C (p.Pro185=)
c.489A>C (p.Pro163=)
c.201A>C (p.Pro67=)
c.407-626A>C (n.407-626A>C)
n.746A>C
17g.39872418A>GCA499931747ZPBP2c.555A>G (p.Pro185=)
c.489A>G (p.Pro163=)
c.201A>G (p.Pro67=)
c.407-626A>G (n.407-626A>G)
n.746A>G
17g.39872418A>TCA499931748ZPBP2c.555A>T (p.Pro185=)
c.489A>T (p.Pro163=)
c.201A>T (p.Pro67=)
c.407-626A>T (n.407-626A>T)
n.746A>T
17g.39872419T>ACA399279972ZPBP2c.556T>A (p.Ser186Thr)
c.490T>A (p.Ser164Thr)
c.202T>A (p.Ser68Thr)
c.407-625T>A (n.407-625T>A)
n.747T>A
17g.39872419T>CCA399279974ZPBP2c.556T>C (p.Ser186Pro)
c.490T>C (p.Ser164Pro)
c.202T>C (p.Ser68Pro)
c.407-625T>C (n.407-625T>C)
n.747T>C
17g.39872419T>GCA399279977ZPBP2c.556T>G (p.Ser186Ala)
c.490T>G (p.Ser164Ala)
c.202T>G (p.Ser68Ala)
c.407-625T>G (n.407-625T>G)
n.747T>G
17g.39872420C>ACA399279978ZPBP2c.557C>A (p.Ser186Ter)
c.491C>A (p.Ser164Ter)
c.203C>A (p.Ser68Ter)
c.407-624C>A (n.407-624C>A)
n.748C>A
17g.39872420C>GCA399279979ZPBP2c.557C>G (p.Ser186Ter)
c.491C>G (p.Ser164Ter)
c.203C>G (p.Ser68Ter)
c.407-624C>G (n.407-624C>G)
n.748C>G
17g.39872420C>TCA399279980ZPBP2c.557C>T (p.Ser186Leu)
c.491C>T (p.Ser164Leu)
c.203C>T (p.Ser68Leu)
c.407-624C>T (n.407-624C>T)
n.748C>T

Number of alleles fetched