Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.196487475_196487489dupCA2780924RNF168c.468_482dup (p.Ala161_Glu162insGluLysArgGlnAla)
c.*40_*54dup (n.*40_*54dup)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.196487476_196487480delinsCCTGTCA1431675821RNF168c.477_481delinsACAGG (p.Arg159=)
c.*49_*53delinsACAGG (n.*49_*53delinsACAGG)
3g.196487479_196487482delCA2780926RNF168c.477_480del (p.Ala161LysfsTer11)
c.*49_*52del (n.*49_*52del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487479G>ACA355625299RNF168c.478C>T (p.Gln160Ter)
c.*50C>T (n.*50C>T)
3g.196487479G>CCA355625301RNF168c.478C>G (p.Gln160Glu)
c.*50C>G (n.*50C>G)
3g.196487479G>TCA355625302RNF168c.478C>A (p.Gln160Lys)
c.*50C>A (n.*50C>A)
3g.196487480T>ACA355625304RNF168c.477A>T (p.Arg159Ser)
c.*49A>T (n.*49A>T)
3g.196487480T>CCA2780927RNF168c.477A>G (p.Arg159=)
c.*49A>G (n.*49A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487480T>GCA355625307RNF168c.477A>C (p.Arg159Ser)
c.*49A>C (n.*49A>C)
3g.196487480T=CA1431675822RNF168c.477A= (p.Arg159=)
c.*49A= (n.*49A=)
3g.196487481C>ACA355625310RNF168c.476G>T (p.Arg159Ile)
c.*48G>T (n.*48G>T)
3g.196487481C=CA1431675823RNF168c.476G= (p.Arg159=)
c.*48G= (n.*48G=)
3g.196487481C>GCA355625312RNF168c.476G>C (p.Arg159Thr)
c.*48G>C (n.*48G>C)
3g.196487481C>TCA355625313RNF168c.476G>A (p.Arg159Lys)
c.*48G>A (n.*48G>A)
dbSNP
3g.196487481_196487482delinsCTCA1431675824RNF168c.475_476delinsAG (p.Arg159=)
c.*47_*48delinsAG (n.*47_*48delinsAG)
3g.196487482T>ACA355625316RNF168c.475A>T (p.Arg159Ter)
c.*47A>T (n.*47A>T)
3g.196487482T>CCA355625317RNF168c.475A>G (p.Arg159Gly)
c.*47A>G (n.*47A>G)
3g.196487482T>GCA437796811RNF168c.475A>C (p.Arg159=)
c.*47A>C (n.*47A>C)
3g.196487487delCA437796814RNF168c.475del (p.Arg159AspfsTer14)
c.*47del (n.*47del)
dbSNP COSMIC
3g.196487483T>ACA355625319RNF168c.474A>T (p.Lys158Asn)
c.*46A>T (n.*46A>T)
3g.196487483T>CCA437796819RNF168c.474A>G (p.Lys158=)
c.*46A>G (n.*46A>G)
dbSNP
3g.196487483T>GCA355625321RNF168c.474A>C (p.Lys158Asn)
c.*46A>C (n.*46A>C)
COSMIC
3g.196487483T=CA1431675825RNF168c.474A= (p.Lys158=)
c.*46A= (n.*46A=)
3g.196487484T>ACA355625324RNF168c.473A>T (p.Lys158Ile)
c.*45A>T (n.*45A>T)
3g.196487484T>CCA355625327RNF168c.473A>G (p.Lys158Arg)
c.*45A>G (n.*45A>G)
3g.196487484T>GCA355625325RNF168c.473A>C (p.Lys158Thr)
c.*45A>C (n.*45A>C)
3g.196487485T>ACA355625329RNF168c.472A>T (p.Lys158Ter)
c.*44A>T (n.*44A>T)
3g.196487485T>CCA355625330RNF168c.472A>G (p.Lys158Glu)
c.*44A>G (n.*44A>G)
gnomAD v4
3g.196487485T>GCA355625332RNF168c.472A>C (p.Lys158Gln)
c.*44A>C (n.*44A>C)
3g.196487486T>ACA355625333RNF168c.471A>T (p.Glu157Asp)
c.*43A>T (n.*43A>T)
3g.196487486T>CCA437796834RNF168c.471A>G (p.Glu157=)
c.*43A>G (n.*43A>G)
3g.196487486T>GCA355625335RNF168c.471A>C (p.Glu157Asp)
c.*43A>C (n.*43A>C)
3g.196487487T>ACA355625338RNF168c.470A>T (p.Glu157Val)
c.*42A>T (n.*42A>T)
3g.196487487T>CCA2780928RNF168c.470A>G (p.Glu157Gly)
c.*42A>G (n.*42A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487487T>GCA355625339RNF168c.470A>C (p.Glu157Ala)
c.*42A>C (n.*42A>C)
3g.196487487T=CA1431675826RNF168c.470A= (p.Glu157=)
c.*42A= (n.*42A=)
3g.196487488C>ACA355625341RNF168c.469G>T (p.Glu157Ter)
c.*41G>T (n.*41G>T)
dbSNP gnomAD v2 gnomAD v4
3g.196487488C=CA1431675827RNF168c.469G= (p.Glu157=)
c.*41G= (n.*41G=)
3g.196487488C>GCA355625343RNF168c.469G>C (p.Glu157Gln)
c.*41G>C (n.*41G>C)
3g.196487488C>TCA355625344RNF168c.469G>A (p.Glu157Lys)
c.*41G>A (n.*41G>A)
COSMIC
3g.196487489delCA2669280285RNF168c.469del (p.Glu157LysfsTer16)
c.*41del (n.*41del)
gnomAD v4
3g.196487489C>ACA355625346RNF168c.468G>T (p.Glu156Asp)
c.*40G>T (n.*40G>T)
3g.196487489C>GCA355625347RNF168c.468G>C (p.Glu156Asp)
c.*40G>C (n.*40G>C)
3g.196487489C>TCA437796854RNF168c.468G>A (p.Glu156=)
c.*40G>A (n.*40G>A)
3g.196487490T>ACA355625353RNF168c.467A>T (p.Glu156Val)
c.*39A>T (n.*39A>T)
3g.196487490T>CCA355625350RNF168c.467A>G (p.Glu156Gly)
c.*39A>G (n.*39A>G)
dbSNP
3g.196487490T>GCA355625352RNF168c.467A>C (p.Glu156Ala)
c.*39A>C (n.*39A>C)
3g.196487490T=CA1431675828RNF168c.467A= (p.Glu156=)
c.*39A= (n.*39A=)
3g.196487491C>ACA355625355RNF168c.466G>T (p.Glu156Ter)
c.*38G>T (n.*38G>T)
3g.196487491C>GCA355625357RNF168c.466G>C (p.Glu156Gln)
c.*38G>C (n.*38G>C)
3g.196487491C>TCA355625359RNF168c.466G>A (p.Glu156Lys)
c.*38G>A (n.*38G>A)
3g.196487492T>ACA355625360RNF168c.465A>T (p.Glu155Asp)
c.*37A>T (n.*37A>T)
3g.196487492T>CCA2780929RNF168c.465A>G (p.Glu155=)
c.*37A>G (n.*37A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487492T>GCA355625363RNF168c.465A>C (p.Glu155Asp)
c.*37A>C (n.*37A>C)
gnomAD v4
3g.196487492T=CA1431675829RNF168c.465A= (p.Glu155=)
c.*37A= (n.*37A=)
3g.196487493T>ACA355625366RNF168c.464A>T (p.Glu155Val)
c.*36A>T (n.*36A>T)
3g.196487493T>CCA355625367RNF168c.464A>G (p.Glu155Gly)
c.*36A>G (n.*36A>G)
3g.196487493T>GCA355625369RNF168c.464A>C (p.Glu155Ala)
c.*36A>C (n.*36A>C)
3g.196487494C>ACA355625371RNF168c.463G>T (p.Glu155Ter)
c.*35G>T (n.*35G>T)
3g.196487494C>GCA355625373RNF168c.463G>C (p.Glu155Gln)
c.*35G>C (n.*35G>C)
3g.196487494C>TCA355625375RNF168c.463G>A (p.Glu155Lys)
c.*35G>A (n.*35G>A)
3g.196487495T>ACA2780930RNF168c.462A>T (p.Glu154Asp)
c.*34A>T (n.*34A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487495T>CCA437796890RNF168c.462A>G (p.Glu154=)
c.*34A>G (n.*34A>G)
dbSNP
3g.196487495T>GCA355625376RNF168c.462A>C (p.Glu154Asp)
c.*34A>C (n.*34A>C)
gnomAD v4
3g.196487495T=CA1431675830RNF168c.462A= (p.Glu154=)
c.*34A= (n.*34A=)
3g.196487496T>ACA355625379RNF168c.461A>T (p.Glu154Val)
c.*33A>T (n.*33A>T)
3g.196487496T>CCA355625381RNF168c.461A>G (p.Glu154Gly)
c.*33A>G (n.*33A>G)
3g.196487496T>GCA355625382RNF168c.461A>C (p.Glu154Ala)
c.*33A>C (n.*33A>C)
3g.196487497C>ACA355625383RNF168c.460G>T (p.Glu154Ter)
c.*32G>T (n.*32G>T)
3g.196487497C>GCA355625384RNF168c.460G>C (p.Glu154Gln)
c.*32G>C (n.*32G>C)
3g.196487497C>TCA355625385RNF168c.460G>A (p.Glu154Lys)
c.*32G>A (n.*32G>A)
gnomAD v4
3g.196487498C>ACA355625386RNF168c.459G>T (p.Glu153Asp)
c.*31G>T (n.*31G>T)
3g.196487498C>GCA355625387RNF168c.459G>C (p.Glu153Asp)
c.*31G>C (n.*31G>C)
3g.196487498C>TCA437796911RNF168c.459G>A (p.Glu153=)
c.*31G>A (n.*31G>A)
3g.196487499T>ACA355625388RNF168c.458A>T (p.Glu153Val)
c.*30A>T (n.*30A>T)
3g.196487499T>CCA2780931RNF168c.458A>G (p.Glu153Gly)
c.*30A>G (n.*30A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487499T>GCA355625391RNF168c.458A>C (p.Glu153Ala)
c.*30A>C (n.*30A>C)
3g.196487499T=CA1431675831RNF168c.458A= (p.Glu153=)
c.*30A= (n.*30A=)
3g.196487500C>ACA355625392RNF168c.457G>T (p.Glu153Ter)
c.*29G>T (n.*29G>T)
3g.196487500C>GCA355625394RNF168c.457G>C (p.Glu153Gln)
c.*29G>C (n.*29G>C)
3g.196487500C>TCA355625396RNF168c.457G>A (p.Glu153Lys)
c.*29G>A (n.*29G>A)
ClinVar
3g.196487501C>ACA355625399RNF168c.456G>T (p.Glu152Asp)
c.*28G>T (n.*28G>T)
3g.196487501C=CA1431675832RNF168c.456G= (p.Glu152=)
c.*28G= (n.*28G=)
3g.196487501C>GCA355625398RNF168c.456G>C (p.Glu152Asp)
c.*28G>C (n.*28G>C)
3g.196487501C>TCA437796927RNF168c.456G>A (p.Glu152=)
c.*28G>A (n.*28G>A)
dbSNP gnomAD v3 gnomAD v4
3g.196487502T>ACA355625402RNF168c.455A>T (p.Glu152Val)
c.*27A>T (n.*27A>T)
3g.196487502T>CCA355625404RNF168c.455A>G (p.Glu152Gly)
c.*27A>G (n.*27A>G)
dbSNP gnomAD v2 gnomAD v4
3g.196487502T>GCA355625405RNF168c.455A>C (p.Glu152Ala)
c.*27A>C (n.*27A>C)
3g.196487502T=CA1431675833RNF168c.455A= (p.Glu152=)
c.*27A= (n.*27A=)
3g.196487503C>ACA355625408RNF168c.454G>T (p.Glu152Ter)
c.*26G>T (n.*26G>T)
3g.196487503C>GCA355625409RNF168c.454G>C (p.Glu152Gln)
c.*26G>C (n.*26G>C)
3g.196487503C>TCA355625411RNF168c.454G>A (p.Glu152Lys)
c.*26G>A (n.*26G>A)
3g.196487504T>ACA437796942RNF168c.453A>T (p.Ala151=)
c.*25A>T (n.*25A>T)
3g.196487504T>CCA437796944RNF168c.453A>G (p.Ala151=)
c.*25A>G (n.*25A>G)
3g.196487504T>GCA437796947RNF168c.453A>C (p.Ala151=)
c.*25A>C (n.*25A>C)
3g.196487505G>ACA355625416RNF168c.452C>T (p.Ala151Val)
c.*24C>T (n.*24C>T)
dbSNP gnomAD v3 gnomAD v4
3g.196487505G>CCA355625413RNF168c.452C>G (p.Ala151Gly)
c.*24C>G (n.*24C>G)
3g.196487505G=CA1431675834RNF168c.452C= (p.Ala151=)
c.*24C= (n.*24C=)
3g.196487505G>TCA355625415RNF168c.452C>A (p.Ala151Glu)
c.*24C>A (n.*24C>A)
3g.196487506C>ACA355625418RNF168c.451G>T (p.Ala151Ser)
c.*23G>T (n.*23G>T)
COSMIC
3g.196487506C>GCA355625420RNF168c.451G>C (p.Ala151Pro)
c.*23G>C (n.*23G>C)
3g.196487506C>TCA355625422RNF168c.451G>A (p.Ala151Thr)
c.*23G>A (n.*23G>A)
3g.196487507C>ACA355625424RNF168c.450G>T (p.Leu150Phe)
c.*22G>T (n.*22G>T)
gnomAD v4
3g.196487507C>GCA355625426RNF168c.450G>C (p.Leu150Phe)
c.*22G>C (n.*22G>C)
3g.196487507C>TCA437796960RNF168c.450G>A (p.Leu150=)
c.*22G>A (n.*22G>A)
3g.196487508A>CCA355625429RNF168c.449T>G (p.Leu150Trp)
c.*21T>G (n.*21T>G)
3g.196487508A>GCA355625433RNF168c.449T>C (p.Leu150Ser)
c.*21T>C (n.*21T>C)
3g.196487508A>TCA355625431RNF168c.449T>A (p.Leu150Ter)
c.*21T>A (n.*21T>A)
3g.196487509A>CCA355625436RNF168c.448T>G (p.Leu150Val)
c.*20T>G (n.*20T>G)
3g.196487509A>GCA437796972RNF168c.448T>C (p.Leu150=)
c.*20T>C (n.*20T>C)
gnomAD v4
3g.196487509A>TCA355625437RNF168c.448T>A (p.Leu150Met)
c.*20T>A (n.*20T>A)
3g.196487510C>ACA355625439RNF168c.447G>T (p.Leu149Phe)
c.*19G>T (n.*19G>T)
3g.196487510C>GCA355625441RNF168c.447G>C (p.Leu149Phe)
c.*19G>C (n.*19G>C)
3g.196487510C>TCA437796981RNF168c.447G>A (p.Leu149=)
c.*19G>A (n.*19G>A)
3g.196487511A>CCA355625443RNF168c.446T>G (p.Leu149Trp)
c.*18T>G (n.*18T>G)
gnomAD v4
3g.196487511A>GCA355625445RNF168c.446T>C (p.Leu149Ser)
c.*18T>C (n.*18T>C)
3g.196487511A>TCA355625447RNF168c.446T>A (p.Leu149Ter)
c.*18T>A (n.*18T>A)
3g.196487512A>CCA355625448RNF168c.445T>G (p.Leu149Val)
c.*17T>G (n.*17T>G)
3g.196487512A>GCA437796999RNF168c.445T>C (p.Leu149=)
c.*17T>C (n.*17T>C)
dbSNP
3g.196487512A>TCA355625450RNF168c.445T>A (p.Leu149Met)
c.*17T>A (n.*17T>A)
3g.196487513C>ACA2780932RNF168c.444G>T (p.Arg148Ser)
c.*16G>T (n.*16G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487513C=CA1431675835RNF168c.444G= (p.Arg148=)
c.*16G= (n.*16G=)
3g.196487513C>GCA355625453RNF168c.444G>C (p.Arg148Ser)
c.*16G>C (n.*16G>C)
3g.196487513C>TCA437797008RNF168c.444G>A (p.Arg148=)
c.*16G>A (n.*16G>A)
3g.196487514C>ACA355625454RNF168c.443G>T (p.Arg148Met)
c.*15G>T (n.*15G>T)
3g.196487514C>GCA355625456RNF168c.443G>C (p.Arg148Thr)
c.*15G>C (n.*15G>C)
3g.196487514C>TCA355625458RNF168c.443G>A (p.Arg148Lys)
c.*15G>A (n.*15G>A)
3g.196487515T>ACA355625461RNF168c.442A>T (p.Arg148Trp)
c.*14A>T (n.*14A>T)
3g.196487515T>CCA355625460RNF168c.442A>G (p.Arg148Gly)
c.*14A>G (n.*14A>G)
3g.196487515T>GCA437797019RNF168c.442A>C (p.Arg148=)
c.*14A>C (n.*14A>C)
3g.196487516C>ACA355625464RNF168c.441G>T (p.Gln147His)
c.*13G>T (n.*13G>T)
3g.196487516C>GCA355625467RNF168c.441G>C (p.Gln147His)
c.*13G>C (n.*13G>C)
3g.196487516C>TCA437797026RNF168c.441G>A (p.Gln147=)
c.*13G>A (n.*13G>A)
3g.196487517T>ACA355625470RNF168c.440A>T (p.Gln147Leu)
c.*12A>T (n.*12A>T)
3g.196487517T>CCA355625471RNF168c.440A>G (p.Gln147Arg)
c.*12A>G (n.*12A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.196487517T>GCA355625472RNF168c.440A>C (p.Gln147Pro)
c.*12A>C (n.*12A>C)
dbSNP gnomAD v3 gnomAD v4
3g.196487517T=CA1431675836RNF168c.440A= (p.Gln147=)
c.*12A= (n.*12A=)
3g.196487518G>ACA355625473RNF168c.439C>T (p.Gln147Ter)
c.*11C>T (n.*11C>T)
gnomAD v4
3g.196487518G>CCA2780933RNF168c.439C>G (p.Gln147Glu)
c.*11C>G (n.*11C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.196487518G=CA1431675837RNF168c.439C= (p.Gln147=)
c.*11C= (n.*11C=)
3g.196487518G>TCA355625476RNF168c.439C>A (p.Gln147Lys)
c.*11C>A (n.*11C>A)
COSMIC
3g.196487518_196487520delinsGTACA1431675838RNF168c.437_439delinsTAC (p.Ile146=)
c.*9_*11delinsTAC (n.*9_*11delinsTAC)
3g.196487519T>ACA437797040RNF168c.438A>T (p.Ile146=)
c.*10A>T (n.*10A>T)
gnomAD v4
3g.196487519T>CCA355625478RNF168c.438A>G (p.Ile146Met)
c.*10A>G (n.*10A>G)
3g.196487519T>GCA437797043RNF168c.438A>C (p.Ile146=)
c.*10A>C (n.*10A>C)
3g.196487520_196487521delCA549261301RNF168c.437_438del (p.Ile146ThrfsTer29)
c.*9_*10del (n.*9_*10del)
dbSNP gnomAD v2 gnomAD v4
3g.196487520A>CCA355625480RNF168c.437T>G (p.Ile146Arg)
c.*9T>G (n.*9T>G)
3g.196487520A>GCA355625482RNF168c.437T>C (p.Ile146Thr)
c.*9T>C (n.*9T>C)
3g.196487520A>TCA355625484RNF168c.437T>A (p.Ile146Lys)
c.*9T>A (n.*9T>A)
3g.196487520_196487522delinsATGCA1431675839RNF168c.435_437delinsCAT (p.Tyr145=)
c.*7_*9delinsCAT (n.*7_*9delinsCAT)
3g.196487521T>ACA355625487RNF168c.436A>T (p.Ile146Leu)
c.*8A>T (n.*8A>T)
3g.196487521T>CCA2780934RNF168c.436A>G (p.Ile146Val)
c.*8A>G (n.*8A>G)
dbSNP ExAC gnomAD v2
3g.196487521T>GCA355625485RNF168c.436A>C (p.Ile146Leu)
c.*8A>C (n.*8A>C)
3g.196487521T=CA1431675840RNF168c.436A= (p.Ile146=)
c.*8A= (n.*8A=)
3g.196487522_196487523delCA549261302RNF168c.435_436del (p.Ile146ThrfsTer29)
c.*7_*8del (n.*7_*8del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.196487522G>ACA2780935RNF168c.435C>T (p.Tyr145=)
c.*7C>T (n.*7C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.196487522G>CCA355625490RNF168c.435C>G (p.Tyr145Ter)
c.*7C>G (n.*7C>G)
3g.196487522G=CA1431675841RNF168c.435C= (p.Tyr145=)
c.*7C= (n.*7C=)
3g.196487522G>TCA355625492RNF168c.435C>A (p.Tyr145Ter)
c.*7C>A (n.*7C>A)
3g.196487523T>ACA355625494RNF168c.434A>T (p.Tyr145Phe)
c.*6A>T (n.*6A>T)
3g.196487523T>CCA2780936RNF168c.434A>G (p.Tyr145Cys)
c.*6A>G (n.*6A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487523T>GCA355625496RNF168c.434A>C (p.Tyr145Ser)
c.*6A>C (n.*6A>C)
3g.196487523T=CA1431675842RNF168c.434A= (p.Tyr145=)
c.*6A= (n.*6A=)
3g.196487524A>CCA355625502RNF168c.433T>G (p.Tyr145Asp)
c.*5T>G (n.*5T>G)
3g.196487524A>GCA355625499RNF168c.433T>C (p.Tyr145His)
c.*5T>C (n.*5T>C)
3g.196487524A>TCA355625500RNF168c.433T>A (p.Tyr145Asn)
c.*5T>A (n.*5T>A)
3g.196487525T>ACA355625504RNF168c.432A>T (p.Glu144Asp)
c.*4A>T (n.*4A>T)
3g.196487525T>CCA437797073RNF168c.432A>G (p.Glu144=)
c.*4A>G (n.*4A>G)
dbSNP gnomAD v2 gnomAD v4
3g.196487525T>GCA355625506RNF168c.432A>C (p.Glu144Asp)
c.*4A>C (n.*4A>C)
3g.196487525T=CA1431675843RNF168c.432A= (p.Glu144=)
c.*4A= (n.*4A=)
3g.196487526T>ACA355625508RNF168c.431A>T (p.Glu144Val)
c.*3A>T (n.*3A>T)
3g.196487526T>CCA355625510RNF168c.431A>G (p.Glu144Gly)
c.*3A>G (n.*3A>G)
3g.196487526T>GCA355625511RNF168c.431A>C (p.Glu144Ala)
c.*3A>C (n.*3A>C)
3g.196487527C>ACA355625514RNF168c.430G>T (p.Glu144Ter)
c.*2G>T (n.*2G>T)
gnomAD v4
3g.196487527C>GCA355625517RNF168c.430G>C (p.Glu144Gln)
c.*2G>C (n.*2G>C)
3g.196487527C>TCA355625515RNF168c.430G>A (p.Glu144Lys)
c.*2G>A (n.*2G>A)
3g.196487528T>ACA355625520RNF168c.429A>T (p.Glu143Asp)
c.*1A>T (n.*1A>T)
3g.196487528T>CCA437797094RNF168c.429A>G (p.Glu143=)
c.*1A>G (n.*1A>G)
ClinVar dbSNP
3g.196487528T>GCA355625521RNF168c.429A>C (p.Glu143Asp)
c.*1A>C (n.*1A>C)
3g.196487528T=CA1431675844RNF168c.429A= (p.Glu143=)
c.*1A= (n.*1A=)
3g.196487529T>ACA355625523RNF168c.428A>T (p.Glu143Val)
c.351A>T (p.Ter117Cys)
3g.196487529T>CCA355625526RNF168c.428A>G (p.Glu143Gly)
c.351A>G (p.Ter117Trp)
3g.196487529T>GCA355625527RNF168c.428A>C (p.Glu143Ala)
c.351A>C (p.Ter117Cys)
3g.196487530C>ACA355625529RNF168c.427G>T (p.Glu143Ter)
c.350G>T (p.Ter117Leu)
3g.196487530C>GCA355625530RNF168c.427G>C (p.Glu143Gln)
c.350G>C (p.Ter117Ser)
3g.196487530C>TCA355625531RNF168c.427G>A (p.Glu143Lys)
c.350G>A (p.Ter117=)
3g.196487531A=CA1431675845RNF168c.426T= (p.Ser142=)
c.349T= (p.Ter117=)
3g.196487531A>CCA355625532RNF168c.426T>G (p.Ser142Arg)
c.349T>G (p.Ter117Gly)
3g.196487531A>GCA2780937RNF168c.426T>C (p.Ser142=)
c.349T>C (p.Ter117Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.196487531A>TCA355625533RNF168c.426T>A (p.Ser142Arg)
c.349T>A (p.Ter117Arg)
3g.196487532C>ACA355625535RNF168c.425G>T (p.Ser142Ile)
c.348G>T (p.Gln116His)
3g.196487532C=CA1431675846RNF168c.425G= (p.Ser142=)
c.348G= (p.Gln116=)
3g.196487532C>GCA355625539RNF168c.425G>C (p.Ser142Thr)
c.348G>C (p.Gln116His)
gnomAD v4
3g.196487532C>TCA355625537RNF168c.425G>A (p.Ser142Asn)
c.348G>A (p.Gln116=)
dbSNP gnomAD v2 gnomAD v4
3g.196487533T>ACA355625544RNF168c.424A>T (p.Ser142Cys)
c.347A>T (p.Gln116Leu)
3g.196487533T>CCA355625547RNF168c.424A>G (p.Ser142Gly)
c.347A>G (p.Gln116Arg)
dbSNP gnomAD v4
3g.196487533T>GCA355625546RNF168c.424A>C (p.Ser142Arg)
c.347A>C (p.Gln116Pro)
3g.196487533T=CA1431675847RNF168c.424A= (p.Ser142=)
c.347A= (p.Gln116=)
3g.196487534G>ACA437797124RNF168c.423C>T (p.Ala141=)
c.346C>T (p.Gln116Ter)
3g.196487534G>CCA437797127RNF168c.423C>G (p.Ala141=)
c.346C>G (p.Gln116Glu)
3g.196487534G>TCA437797129RNF168c.423C>A (p.Ala141=)
c.346C>A (p.Gln116Lys)
COSMIC
3g.196487535G>ACA2780938RNF168c.422C>T (p.Ala141Val)
c.345C>T (p.Ser115=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487535G>CCA355625552RNF168c.422C>G (p.Ala141Gly)
c.345C>G (p.Ser115Arg)
3g.196487535G=CA1431675848RNF168c.422C= (p.Ala141=)
c.345C= (p.Ser115=)
3g.196487535G>TCA355625550RNF168c.422C>A (p.Ala141Asp)
c.345C>A (p.Ser115Arg)
3g.196487536C>ACA355625553RNF168c.421G>T (p.Ala141Ser)
c.344G>T (p.Ser115Ile)
gnomAD v4
3g.196487536C>GCA355625555RNF168c.421G>C (p.Ala141Pro)
c.344G>C (p.Ser115Thr)
3g.196487536C>TCA355625556RNF168c.421G>A (p.Ala141Thr)
c.344G>A (p.Ser115Asn)
3g.196487537T>ACA355625559RNF168c.420A>T (p.Lys140Asn)
c.343A>T (p.Ser115Cys)
3g.196487537T>CCA437797153RNF168c.420A>G (p.Lys140=)
c.343A>G (p.Ser115Gly)
3g.196487537T>GCA355625560RNF168c.420A>C (p.Lys140Asn)
c.343A>C (p.Ser115Arg)
3g.196487537_196487540delinsTTTGCA1431675849RNF168c.417_420delinsCAAA (p.Asn139=)
c.340_343delinsCAAA (p.Gln114=)
3g.196487538T>ACA355625562RNF168c.419A>T (p.Lys140Ile)
c.342A>T (p.Gln114His)
3g.196487538T>CCA355625564RNF168c.419A>G (p.Lys140Arg)
c.342A>G (p.Gln114=)
dbSNP gnomAD v2 gnomAD v4
3g.196487538T>GCA90858509RNF168c.419A>C (p.Lys140Thr)
c.342A>C (p.Gln114His)
dbSNP
3g.196487538T=CA1431675850RNF168c.419A= (p.Lys140=)
c.342A= (p.Gln114=)
3g.196487540_196487542delCA917105100RNF168c.417_419del (p.Asn139del)
c.340_342del (p.Gln114del)
dbSNP gnomAD v3 gnomAD v4
3g.196487539T>ACA355625566RNF168c.418A>T (p.Lys140Ter)
c.341A>T (p.Gln114Leu)
3g.196487539T>CCA355625568RNF168c.418A>G (p.Lys140Glu)
c.341A>G (p.Gln114Arg)
gnomAD v3 gnomAD v4
3g.196487539T>GCA355625570RNF168c.418A>C (p.Lys140Gln)
c.341A>C (p.Gln114Pro)
3g.196487540G>ACA437797175RNF168c.417C>T (p.Asn139=)
c.340C>T (p.Gln114Ter)
3g.196487540G>CCA355625571RNF168c.417C>G (p.Asn139Lys)
c.340C>G (p.Gln114Glu)
3g.196487540G>TCA355625573RNF168c.417C>A (p.Asn139Lys)
c.340C>A (p.Gln114Lys)
3g.196487541T>ACA355625580RNF168c.416A>T (p.Asn139Ile)
c.339A>T (p.Lys113Asn)
3g.196487541T>CCA355625578RNF168c.416A>G (p.Asn139Ser)
c.339A>G (p.Lys113=)
3g.196487541T>GCA355625576RNF168c.416A>C (p.Asn139Thr)
c.339A>C (p.Lys113Asn)
3g.196487542T>ACA355625583RNF168c.415A>T (p.Asn139Tyr)
c.338A>T (p.Lys113Ile)
3g.196487542T>CCA355625584RNF168c.415A>G (p.Asn139Asp)
c.338A>G (p.Lys113Arg)
3g.196487542T>GCA355625585RNF168c.415A>C (p.Asn139His)
c.338A>C (p.Lys113Thr)
3g.196487543T>ACA355625586RNF168c.414A>T (p.Glu138Asp)
c.337A>T (p.Lys113Ter)
3g.196487543T>CCA437797203RNF168c.414A>G (p.Glu138=)
c.337A>G (p.Lys113Glu)
3g.196487543T>GCA355625587RNF168c.414A>C (p.Glu138Asp)
c.337A>C (p.Lys113Gln)
3g.196487544T>ACA355625588RNF168c.413A>T (p.Glu138Val)
c.336A>T (p.Arg112Ser)
ClinVar dbSNP gnomAD v4
3g.196487544T>CCA355625589RNF168c.413A>G (p.Glu138Gly)
c.336A>G (p.Arg112=)
3g.196487544T>GCA355625590RNF168c.413A>C (p.Glu138Ala)
c.336A>C (p.Arg112Ser)
3g.196487545C>ACA2780939RNF168c.412G>T (p.Glu138Ter)
c.335G>T (p.Arg112Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.196487545C=CA1431675851RNF168c.412G= (p.Glu138=)
c.335G= (p.Arg112=)
3g.196487545C>GCA355625592RNF168c.412G>C (p.Glu138Gln)
c.335G>C (p.Arg112Thr)
3g.196487545C>TCA355625593RNF168c.412G>A (p.Glu138Lys)
c.335G>A (p.Arg112Lys)
3g.196487546T>ACA355625596RNF168c.411A>T (p.Glu137Asp)
c.334A>T (p.Arg112Ter)
3g.196487546T>CCA437797228RNF168c.411A>G (p.Glu137=)
c.334A>G (p.Arg112Gly)
dbSNP gnomAD v3 gnomAD v4
3g.196487546T>GCA355625597RNF168c.411A>C (p.Glu137Asp)
c.334A>C (p.Arg112=)
gnomAD v4 COSMIC
3g.196487546T=CA1431675852RNF168c.411A= (p.Glu137=)
c.334A= (p.Arg112=)
3g.196487547T>ACA355625599RNF168c.410A>T (p.Glu137Val)
c.333A>T (p.Arg111Ser)
3g.196487547T>CCA355625601RNF168c.410A>G (p.Glu137Gly)
c.333A>G (p.Arg111=)
gnomAD v4
3g.196487547T>GCA355625598RNF168c.410A>C (p.Glu137Ala)
c.333A>C (p.Arg111Ser)
3g.196487548C>ACA355625603RNF168c.409G>T (p.Glu137Ter)
c.332G>T (p.Arg111Ile)
3g.196487548C=CA1431675853RNF168c.409G= (p.Glu137=)
c.332G= (p.Arg111=)
3g.196487548C>GCA355625604RNF168c.409G>C (p.Glu137Gln)
c.332G>C (p.Arg111Thr)
3g.196487548C>TCA90858523RNF168c.409G>A (p.Glu137Lys)
c.332G>A (p.Arg111Lys)
dbSNP gnomAD v3 gnomAD v4
3g.196487549T>ACA355625606RNF168c.408A>T (p.Glu136Asp)
c.331A>T (p.Arg111Ter)
3g.196487549T>CCA437797254RNF168c.408A>G (p.Glu136=)
c.331A>G (p.Arg111Gly)
dbSNP gnomAD v3 gnomAD v4
3g.196487549T>GCA355625608RNF168c.408A>C (p.Glu136Asp)
c.331A>C (p.Arg111=)
3g.196487549T=CA1431675854RNF168c.408A= (p.Glu136=)
c.331A= (p.Arg111=)
3g.196487550T>ACA355625610RNF168c.407A>T (p.Glu136Val)
c.330A>T (p.Gly110=)
3g.196487550T>CCA355625611RNF168c.407A>G (p.Glu136Gly)
c.330A>G (p.Gly110=)
gnomAD v4
3g.196487550T>GCA355625612RNF168c.407A>C (p.Glu136Ala)
c.330A>C (p.Gly110=)
3g.196487551C>ACA355625614RNF168c.406G>T (p.Glu136Ter)
c.329G>T (p.Gly110Val)
3g.196487551C>GCA355625616RNF168c.406G>C (p.Glu136Gln)
c.329G>C (p.Gly110Ala)
3g.196487551C>TCA355625618RNF168c.406G>A (p.Glu136Lys)
c.329G>A (p.Gly110Glu)
3g.196487552C>ACA355625619RNF168c.405G>T (p.Glu135Asp)
c.328G>T (p.Gly110Ter)
gnomAD v4
3g.196487552C>GCA355625620RNF168c.405G>C (p.Glu135Asp)
c.328G>C (p.Gly110Arg)
3g.196487552C>TCA437797285RNF168c.405G>A (p.Glu135=)
c.328G>A (p.Gly110Arg)
gnomAD v4
3g.196487553T>ACA355625623RNF168c.404A>T (p.Glu135Val)
c.327A>T (p.Arg109=)
3g.196487553T>CCA355625626RNF168c.404A>G (p.Glu135Gly)
c.327A>G (p.Arg109=)
dbSNP
3g.196487553T>GCA355625625RNF168c.404A>C (p.Glu135Ala)
c.327A>C (p.Arg109=)
3g.196487553T=CA1431675855RNF168c.404A= (p.Glu135=)
c.327A= (p.Arg109=)
3g.196487554C>ACA355625628RNF168c.403G>T (p.Glu135Ter)
c.326G>T (p.Arg109Leu)
3g.196487554C=CA1431675856RNF168c.403G= (p.Glu135=)
c.326G= (p.Arg109=)
3g.196487554C>GCA355625630RNF168c.403G>C (p.Glu135Gln)
c.326G>C (p.Arg109Pro)
COSMIC
3g.196487554C>TCA355625631RNF168c.403G>A (p.Glu135Lys)
c.326G>A (p.Arg109Gln)
dbSNP gnomAD v4
3g.196487555G>ACA2780940RNF168c.402C>T (p.Ser134=)
c.325C>T (p.Arg109Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487555G>CCA355625633RNF168c.402C>G (p.Ser134Arg)
c.325C>G (p.Arg109Gly)
gnomAD v4
3g.196487555G=CA1431675857RNF168c.402C= (p.Ser134=)
c.325C= (p.Arg109=)
3g.196487555G>TCA355625635RNF168c.402C>A (p.Ser134Arg)
c.325C>A (p.Arg109=)
3g.196487556C>ACA355626100RNF168c.401G>T (p.Ser134Ile)
c.324G>T (p.Gln108His)
3g.196487556C=CA1431675858RNF168c.401G= (p.Ser134=)
c.324G= (p.Gln108=)
3g.196487556C>GCA90858534RNF168c.401G>C (p.Ser134Thr)
c.324G>C (p.Gln108His)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.196487556C>TCA355626103RNF168c.401G>A (p.Ser134Asn)
c.324G>A (p.Gln108=)
3g.196487557T>ACA355626109RNF168c.400A>T (p.Ser134Cys)
c.323A>T (p.Gln108Leu)
3g.196487557T>CCA355626107RNF168c.400A>G (p.Ser134Gly)
c.323A>G (p.Gln108Arg)
3g.196487557T>GCA355626106RNF168c.400A>C (p.Ser134Arg)
c.323A>C (p.Gln108Pro)
3g.196487558G>ACA437797902RNF168c.399C>T (p.Ala133=)
c.322C>T (p.Gln108Ter)
3g.196487558G>CCA2780941RNF168c.399C>G (p.Ala133=)
c.322C>G (p.Gln108Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.196487558G=CA1431675859RNF168c.399C= (p.Ala133=)
c.322C= (p.Gln108=)
3g.196487558G>TCA437797905RNF168c.399C>A (p.Ala133=)
c.322C>A (p.Gln108Lys)
3g.196487559G>ACA355626116RNF168c.398C>T (p.Ala133Val)
c.321C>T (p.Gly107=)
gnomAD v4
3g.196487559G>CCA355626112RNF168c.398C>G (p.Ala133Gly)
c.321C>G (p.Gly107=)
3g.196487559G=CA1431675860RNF168c.398C= (p.Ala133=)
c.321C= (p.Gly107=)
3g.196487559G>TCA355626114RNF168c.398C>A (p.Ala133Asp)
c.321C>A (p.Gly107=)
3g.196487560C>ACA355626118RNF168c.397G>T (p.Ala133Ser)
c.320G>T (p.Gly107Val)
3g.196487560C>GCA355626120RNF168c.397G>C (p.Ala133Pro)
c.320G>C (p.Gly107Ala)
3g.196487560C>TCA355626122RNF168c.397G>A (p.Ala133Thr)
c.320G>A (p.Gly107Asp)
3g.196487562dupCA913184804RNF168c.397dup (p.Ala133GlyfsTer11)
c.320dup (p.Gln108ProfsTer?)
ClinVar dbSNP gnomAD v4
3g.196487561C>ACA437797915RNF168c.396G>T (p.Arg132=)
c.319G>T (p.Gly107Cys)
3g.196487561C=CA1431675861RNF168c.396G= (p.Arg132=)
c.319G= (p.Gly107=)
3g.196487561C>GCA437797917RNF168c.396G>C (p.Arg132=)
c.319G>C (p.Gly107Arg)
dbSNP gnomAD v2 gnomAD v4
3g.196487561C>TCA437797919RNF168c.396G>A (p.Arg132=)
c.319G>A (p.Gly107Ser)
3g.196487562C>ACA355626124RNF168c.395G>T (p.Arg132Leu)
c.318G>T (p.Thr106=)
3g.196487562C=CA1431675862RNF168c.395G= (p.Arg132=)
c.318G= (p.Thr106=)
3g.196487562C>GCA355626125RNF168c.395G>C (p.Arg132Pro)
c.318G>C (p.Thr106=)
3g.196487562C>TCA355626127RNF168c.395G>A (p.Arg132Gln)
c.318G>A (p.Thr106=)
dbSNP gnomAD v4
3g.196487563G>ACA2780942RNF168c.394C>T (p.Arg132Trp)
c.317C>T (p.Thr106Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487563G>CCA355626129RNF168c.394C>G (p.Arg132Gly)
c.317C>G (p.Thr106Arg)
3g.196487563G=CA1431675863RNF168c.394C= (p.Arg132=)
c.317C= (p.Thr106=)
3g.196487563G>TCA437797927RNF168c.394C>A (p.Arg132=)
c.317C>A (p.Thr106Lys)
3g.196487564T>ACA437797929RNF168c.393A>T (p.Arg131=)
c.316A>T (p.Thr106Ser)
3g.196487564T>CCA437797931RNF168c.393A>G (p.Arg131=)
c.316A>G (p.Thr106Ala)
3g.196487564T>GCA437797934RNF168c.393A>C (p.Arg131=)
c.316A>C (p.Thr106Pro)
3g.196487565C>ACA355626132RNF168c.392G>T (p.Arg131Leu)
c.315G>T (p.Ala105=)
3g.196487565C=CA1431675864RNF168c.392G= (p.Arg131=)
c.315G= (p.Ala105=)
3g.196487565C>GCA355626133RNF168c.392G>C (p.Arg131Pro)
c.315G>C (p.Ala105=)
3g.196487565C>TCA2780943RNF168c.392G>A (p.Arg131Gln)
c.315G>A (p.Ala105=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487566G>ACA215012RNF168c.391C>T (p.Arg131Ter)
c.314C>T (p.Ala105Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.196487566G>CCA355626137RNF168c.391C>G (p.Arg131Gly)
c.314C>G (p.Ala105Gly)
3g.196487566G=CA1431675865RNF168c.391C= (p.Arg131=)
c.314C= (p.Ala105=)
3g.196487566G>TCA437797941RNF168c.391C>A (p.Arg131=)
c.314C>A (p.Ala105Glu)
3g.196487567C>ACA355626138RNF168c.390G>T (p.Glu130Asp)
c.313G>T (p.Ala105Ser)
3g.196487567C>GCA355626139RNF168c.390G>C (p.Glu130Asp)
c.313G>C (p.Ala105Pro)
3g.196487567C>TCA437797944RNF168c.390G>A (p.Glu130=)
c.313G>A (p.Ala105Thr)
3g.196487568_196487576delCA645538459RNF168c.382_390del (p.Ala128_Glu130del)
c.305_313del (p.Gly102_Arg104del)
COSMIC
3g.196487568T>ACA355626141RNF168c.389A>T (p.Glu130Val)
c.312A>T (p.Arg104Ser)
3g.196487568T>CCA355626143RNF168c.389A>G (p.Glu130Gly)
c.312A>G (p.Arg104=)
3g.196487568T>GCA355626145RNF168c.389A>C (p.Glu130Ala)
c.312A>C (p.Arg104Ser)
3g.196487569C>ACA355626147RNF168c.388G>T (p.Glu130Ter)
c.311G>T (p.Arg104Ile)
3g.196487569C>GCA355626149RNF168c.388G>C (p.Glu130Gln)
c.311G>C (p.Arg104Thr)
3g.196487569C>TCA355626151RNF168c.388G>A (p.Glu130Lys)
c.311G>A (p.Arg104Lys)
gnomAD v4 COSMIC
3g.196487570T>ACA437797956RNF168c.387A>T (p.Ala129=)
c.310A>T (p.Arg104Ter)
3g.196487570T>CCA437797954RNF168c.387A>G (p.Ala129=)
c.310A>G (p.Arg104Gly)
gnomAD v4
3g.196487570T>GCA437797952RNF168c.387A>C (p.Ala129=)
c.310A>C (p.Arg104=)
3g.196487571G>ACA355626153RNF168c.386C>T (p.Ala129Val)
c.309C>T (p.Gly103=)
3g.196487571G>CCA355626155RNF168c.386C>G (p.Ala129Gly)
c.309C>G (p.Gly103=)
3g.196487571G=CA1431675866RNF168c.386C= (p.Ala129=)
c.309C= (p.Gly103=)
3g.196487571G>TCA355626157RNF168c.386C>A (p.Ala129Glu)
c.309C>A (p.Gly103=)
dbSNP gnomAD v2 gnomAD v4
3g.196487572C>ACA355626163RNF168c.385G>T (p.Ala129Ser)
c.308G>T (p.Gly103Val)
3g.196487572C>GCA355626161RNF168c.385G>C (p.Ala129Pro)
c.308G>C (p.Gly103Ala)
3g.196487572C>TCA355626159RNF168c.385G>A (p.Ala129Thr)
c.308G>A (p.Gly103Asp)
3g.196487573C>ACA437797963RNF168c.384G>T (p.Ala128=)
c.307G>T (p.Gly103Cys)
3g.196487573C=CA1431675867RNF168c.384G= (p.Ala128=)
c.307G= (p.Gly103=)
3g.196487573C>GCA437797965RNF168c.384G>C (p.Ala128=)
c.307G>C (p.Gly103Arg)
3g.196487573C>TCA2780944RNF168c.384G>A (p.Ala128=)
c.307G>A (p.Gly103Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487573_196487574insACA1431675868RNF168c.383_384insT (p.Ala129GlyfsTer15)
c.306_307insT (p.Gly103TrpfsTer?)
dbSNP
3g.196487574G>ACA2780945RNF168c.383C>T (p.Ala128Val)
c.306C>T (p.Gly102=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.196487574G>CCA355626166RNF168c.383C>G (p.Ala128Gly)
c.306C>G (p.Gly102=)
3g.196487574G=CA1431675869RNF168c.383C= (p.Ala128=)
c.306C= (p.Gly102=)
3g.196487574G>TCA355626167RNF168c.383C>A (p.Ala128Glu)
c.306C>A (p.Gly102=)
3g.196487575C>ACA355626169RNF168c.382G>T (p.Ala128Ser)
c.305G>T (p.Gly102Val)
dbSNP gnomAD v3 gnomAD v4
3g.196487575C=CA1431675870RNF168c.382G= (p.Ala128=)
c.305G= (p.Gly102=)
3g.196487575C>GCA355626171RNF168c.382G>C (p.Ala128Pro)
c.305G>C (p.Gly102Ala)
3g.196487575C>TCA2780946RNF168c.382G>A (p.Ala128Thr)
c.305G>A (p.Gly102Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.196487576C>ACA437797981RNF168c.381G>T (p.Val127=)
c.304G>T (p.Gly102Cys)
dbSNP
3g.196487576C=CA1431675871RNF168c.381G= (p.Val127=)
c.304G= (p.Gly102=)
3g.196487576C>GCA437797977RNF168c.381G>C (p.Val127=)
c.304G>C (p.Gly102Arg)
3g.196487576C>TCA437797979RNF168c.381G>A (p.Val127=)
c.304G>A (p.Gly102Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.196487577A>CCA355626174RNF168c.380T>G (p.Val127Gly)
c.303T>G (p.Gly101=)
3g.196487577A>GCA355626176RNF168c.380T>C (p.Val127Ala)
c.303T>C (p.Gly101=)
3g.196487577A>TCA355626177RNF168c.380T>A (p.Val127Glu)
c.303T>A (p.Gly101=)
3g.196487578C>ACA355626179RNF168c.379G>T (p.Val127Leu)
c.302G>T (p.Gly101Val)
3g.196487578C=CA1431675872RNF168c.379G= (p.Val127=)
c.302G= (p.Gly101=)
3g.196487578C>GCA355626181RNF168c.379G>C (p.Val127Leu)
c.302G>C (p.Gly101Ala)
3g.196487578C>TCA355626183RNF168c.379G>A (p.Val127Met)
c.302G>A (p.Gly101Asp)
dbSNP gnomAD v4
3g.196487579C>ACA355626189RNF168c.379-1G>T (n.379-1G>T)
c.302-1G>T (n.302-1G>T)
3g.196487579C=CA1431675873RNF168c.379-1G= (n.379-1G=)
c.302-1G= (n.302-1G=)
3g.196487579C>GCA355626185RNF168c.379-1G>C (n.379-1G>C)
c.302-1G>C (n.302-1G>C)
3g.196487579C>TCA355626187RNF168c.379-1G>A (n.379-1G>A)
c.302-1G>A (n.302-1G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched