Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.119033240G>ACA1035226WARS2c.754C>T (p.Arg252Cys)
c.*120C>T (n.*120C>T)
c.700C>T (p.Arg234Cys)
c.472C>T (p.Arg158Cys)
c.685C>T (p.Arg229Cys)
c.496C>T (p.Arg166Cys)
c.697C>T (p.Arg233Cys)
c.583C>T (p.Arg195Cys)
c.415C>T (p.Arg139Cys)
c.*89C>T (n.*89C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.119033240G>CCA341436690WARS2c.754C>G (p.Arg252Gly)
c.*120C>G (n.*120C>G)
c.700C>G (p.Arg234Gly)
c.472C>G (p.Arg158Gly)
c.685C>G (p.Arg229Gly)
c.496C>G (p.Arg166Gly)
c.697C>G (p.Arg233Gly)
c.583C>G (p.Arg195Gly)
c.415C>G (p.Arg139Gly)
c.*89C>G (n.*89C>G)
1g.119033240G=CA1142315716WARS2c.754C= (p.Arg252=)
c.*120C= (n.*120C=)
c.700C= (p.Arg234=)
c.472C= (p.Arg158=)
c.685C= (p.Arg229=)
c.496C= (p.Arg166=)
c.697C= (p.Arg233=)
c.583C= (p.Arg195=)
c.415C= (p.Arg139=)
c.*89C= (n.*89C=)
1g.119033240G>TCA341436689WARS2c.754C>A (p.Arg252Ser)
c.*120C>A (n.*120C>A)
c.700C>A (p.Arg234Ser)
c.472C>A (p.Arg158Ser)
c.685C>A (p.Arg229Ser)
c.496C>A (p.Arg166Ser)
c.697C>A (p.Arg233Ser)
c.583C>A (p.Arg195Ser)
c.415C>A (p.Arg139Ser)
c.*89C>A (n.*89C>A)
1g.119033241G>ACA420192785WARS2c.753C>T (p.Phe251=)
c.*119C>T (n.*119C>T)
c.699C>T (p.Phe233=)
c.471C>T (p.Phe157=)
c.684C>T (p.Phe228=)
c.495C>T (p.Phe165=)
c.696C>T (p.Phe232=)
c.582C>T (p.Phe194=)
c.414C>T (p.Phe138=)
c.*88C>T (n.*88C>T)
dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.119033241G>CCA341436691WARS2c.753C>G (p.Phe251Leu)
c.*119C>G (n.*119C>G)
c.699C>G (p.Phe233Leu)
c.471C>G (p.Phe157Leu)
c.684C>G (p.Phe228Leu)
c.495C>G (p.Phe165Leu)
c.696C>G (p.Phe232Leu)
c.582C>G (p.Phe194Leu)
c.414C>G (p.Phe138Leu)
c.*88C>G (n.*88C>G)
1g.119033241G=CA1192128210WARS2c.753C= (p.Phe251=)
c.*119C= (n.*119C=)
c.699C= (p.Phe233=)
c.471C= (p.Phe157=)
c.684C= (p.Phe228=)
c.495C= (p.Phe165=)
c.696C= (p.Phe232=)
c.582C= (p.Phe194=)
c.414C= (p.Phe138=)
c.*88C= (n.*88C=)
1g.119033241G>TCA30376565WARS2c.753C>A (p.Phe251Leu)
c.*119C>A (n.*119C>A)
c.699C>A (p.Phe233Leu)
c.471C>A (p.Phe157Leu)
c.684C>A (p.Phe228Leu)
c.495C>A (p.Phe165Leu)
c.696C>A (p.Phe232Leu)
c.582C>A (p.Phe194Leu)
c.414C>A (p.Phe138Leu)
c.*88C>A (n.*88C>A)
dbSNP
1g.119033242A>CCA341436692WARS2c.752T>G (p.Phe251Cys)
c.*118T>G (n.*118T>G)
c.698T>G (p.Phe233Cys)
c.470T>G (p.Phe157Cys)
c.683T>G (p.Phe228Cys)
c.494T>G (p.Phe165Cys)
c.695T>G (p.Phe232Cys)
c.581T>G (p.Phe194Cys)
c.413T>G (p.Phe138Cys)
c.*87T>G (n.*87T>G)
1g.119033242A>GCA341436693WARS2c.752T>C (p.Phe251Ser)
c.*118T>C (n.*118T>C)
c.698T>C (p.Phe233Ser)
c.470T>C (p.Phe157Ser)
c.683T>C (p.Phe228Ser)
c.494T>C (p.Phe165Ser)
c.695T>C (p.Phe232Ser)
c.581T>C (p.Phe194Ser)
c.413T>C (p.Phe138Ser)
c.*87T>C (n.*87T>C)
1g.119033242A>TCA341436694WARS2c.752T>A (p.Phe251Tyr)
c.*118T>A (n.*118T>A)
c.698T>A (p.Phe233Tyr)
c.470T>A (p.Phe157Tyr)
c.683T>A (p.Phe228Tyr)
c.494T>A (p.Phe165Tyr)
c.695T>A (p.Phe232Tyr)
c.581T>A (p.Phe194Tyr)
c.413T>A (p.Phe138Tyr)
c.*87T>A (n.*87T>A)
1g.119033243A=CA1192128211WARS2c.751T= (p.Phe251=)
c.*117T= (n.*117T=)
c.697T= (p.Phe233=)
c.469T= (p.Phe157=)
c.682T= (p.Phe228=)
c.493T= (p.Phe165=)
c.694T= (p.Phe232=)
c.580T= (p.Phe194=)
c.412T= (p.Phe138=)
c.*86T= (n.*86T=)
1g.119033243A>CCA341436695WARS2c.751T>G (p.Phe251Val)
c.*117T>G (n.*117T>G)
c.697T>G (p.Phe233Val)
c.469T>G (p.Phe157Val)
c.682T>G (p.Phe228Val)
c.493T>G (p.Phe165Val)
c.694T>G (p.Phe232Val)
c.580T>G (p.Phe194Val)
c.412T>G (p.Phe138Val)
c.*86T>G (n.*86T>G)
1g.119033243A>GCA341436696WARS2c.751T>C (p.Phe251Leu)
c.*117T>C (n.*117T>C)
c.697T>C (p.Phe233Leu)
c.469T>C (p.Phe157Leu)
c.682T>C (p.Phe228Leu)
c.493T>C (p.Phe165Leu)
c.694T>C (p.Phe232Leu)
c.580T>C (p.Phe194Leu)
c.412T>C (p.Phe138Leu)
c.*86T>C (n.*86T>C)
ClinVar
1g.119033243A>TCA341436697WARS2c.751T>A (p.Phe251Ile)
c.*117T>A (n.*117T>A)
c.697T>A (p.Phe233Ile)
c.469T>A (p.Phe157Ile)
c.682T>A (p.Phe228Ile)
c.493T>A (p.Phe165Ile)
c.694T>A (p.Phe232Ile)
c.580T>A (p.Phe194Ile)
c.412T>A (p.Phe138Ile)
c.*86T>A (n.*86T>A)
dbSNP
1g.119033244T>ACA341436698WARS2c.750A>T (p.Lys250Asn)
c.*116A>T (n.*116A>T)
c.696A>T (p.Lys232Asn)
c.468A>T (p.Lys156Asn)
c.681A>T (p.Lys227Asn)
c.492A>T (p.Lys164Asn)
c.693A>T (p.Lys231Asn)
c.579A>T (p.Lys193Asn)
c.411A>T (p.Lys137Asn)
c.*85A>T (n.*85A>T)
1g.119033244T>CCA420192792WARS2c.750A>G (p.Lys250=)
c.*116A>G (n.*116A>G)
c.696A>G (p.Lys232=)
c.468A>G (p.Lys156=)
c.681A>G (p.Lys227=)
c.492A>G (p.Lys164=)
c.693A>G (p.Lys231=)
c.579A>G (p.Lys193=)
c.411A>G (p.Lys137=)
c.*85A>G (n.*85A>G)
1g.119033244T>GCA341436699WARS2c.750A>C (p.Lys250Asn)
c.*116A>C (n.*116A>C)
c.696A>C (p.Lys232Asn)
c.468A>C (p.Lys156Asn)
c.681A>C (p.Lys227Asn)
c.492A>C (p.Lys164Asn)
c.693A>C (p.Lys231Asn)
c.579A>C (p.Lys193Asn)
c.411A>C (p.Lys137Asn)
c.*85A>C (n.*85A>C)
1g.119033246delCA2647370036WARS2c.750del (p.Lys250AsnfsTer6)
c.*116del (n.*116del)
c.696del (p.Lys232AsnfsTer6)
c.468del (p.Lys156AsnfsTer6)
c.681del (p.Lys227AsnfsTer6)
c.492del (p.Lys164AsnfsTer6)
c.693del (p.Lys231AsnfsTer6)
c.579del (p.Lys193AsnfsTer6)
c.411del (p.Lys137AsnfsTer6)
c.*85del (n.*85del)
gnomAD v4
1g.119033245T>ACA341436700WARS2c.749A>T (p.Lys250Ile)
c.*115A>T (n.*115A>T)
c.695A>T (p.Lys232Ile)
c.467A>T (p.Lys156Ile)
c.680A>T (p.Lys227Ile)
c.491A>T (p.Lys164Ile)
c.692A>T (p.Lys231Ile)
c.578A>T (p.Lys193Ile)
c.410A>T (p.Lys137Ile)
c.*84A>T (n.*84A>T)
1g.119033245T>CCA341436701WARS2c.749A>G (p.Lys250Arg)
c.*115A>G (n.*115A>G)
c.695A>G (p.Lys232Arg)
c.467A>G (p.Lys156Arg)
c.680A>G (p.Lys227Arg)
c.491A>G (p.Lys164Arg)
c.692A>G (p.Lys231Arg)
c.578A>G (p.Lys193Arg)
c.410A>G (p.Lys137Arg)
c.*84A>G (n.*84A>G)
1g.119033245T>GCA341436702WARS2c.749A>C (p.Lys250Thr)
c.*115A>C (n.*115A>C)
c.695A>C (p.Lys232Thr)
c.467A>C (p.Lys156Thr)
c.680A>C (p.Lys227Thr)
c.491A>C (p.Lys164Thr)
c.692A>C (p.Lys231Thr)
c.578A>C (p.Lys193Thr)
c.410A>C (p.Lys137Thr)
c.*84A>C (n.*84A>C)
1g.119033246T>ACA341436705WARS2c.748A>T (p.Lys250Ter)
c.*114A>T (n.*114A>T)
c.694A>T (p.Lys232Ter)
c.466A>T (p.Lys156Ter)
c.679A>T (p.Lys227Ter)
c.490A>T (p.Lys164Ter)
c.691A>T (p.Lys231Ter)
c.577A>T (p.Lys193Ter)
c.409A>T (p.Lys137Ter)
c.*83A>T (n.*83A>T)
1g.119033246T>CCA341436703WARS2c.748A>G (p.Lys250Glu)
c.*114A>G (n.*114A>G)
c.694A>G (p.Lys232Glu)
c.466A>G (p.Lys156Glu)
c.679A>G (p.Lys227Glu)
c.490A>G (p.Lys164Glu)
c.691A>G (p.Lys231Glu)
c.577A>G (p.Lys193Glu)
c.409A>G (p.Lys137Glu)
c.*83A>G (n.*83A>G)
1g.119033246T>GCA341436704WARS2c.748A>C (p.Lys250Gln)
c.*114A>C (n.*114A>C)
c.694A>C (p.Lys232Gln)
c.466A>C (p.Lys156Gln)
c.679A>C (p.Lys227Gln)
c.490A>C (p.Lys164Gln)
c.691A>C (p.Lys231Gln)
c.577A>C (p.Lys193Gln)
c.409A>C (p.Lys137Gln)
c.*83A>C (n.*83A>C)
1g.119033247C>ACA341436706WARS2c.747G>T (p.Gln249His)
c.*113G>T (n.*113G>T)
c.693G>T (p.Gln231His)
c.465G>T (p.Gln155His)
c.678G>T (p.Gln226His)
c.489G>T (p.Gln163His)
c.690G>T (p.Gln230His)
c.576G>T (p.Gln192His)
c.408G>T (p.Gln136His)
c.*82G>T (n.*82G>T)
1g.119033247C=CA1192128212WARS2c.747G= (p.Gln249=)
c.*113G= (n.*113G=)
c.693G= (p.Gln231=)
c.465G= (p.Gln155=)
c.678G= (p.Gln226=)
c.489G= (p.Gln163=)
c.690G= (p.Gln230=)
c.576G= (p.Gln192=)
c.408G= (p.Gln136=)
c.*82G= (n.*82G=)
1g.119033247C>GCA341436707WARS2c.747G>C (p.Gln249His)
c.*113G>C (n.*113G>C)
c.693G>C (p.Gln231His)
c.465G>C (p.Gln155His)
c.678G>C (p.Gln226His)
c.489G>C (p.Gln163His)
c.690G>C (p.Gln230His)
c.576G>C (p.Gln192His)
c.408G>C (p.Gln136His)
c.*82G>C (n.*82G>C)
1g.119033247C>TCA420192799WARS2c.747G>A (p.Gln249=)
c.*113G>A (n.*113G>A)
c.693G>A (p.Gln231=)
c.465G>A (p.Gln155=)
c.678G>A (p.Gln226=)
c.489G>A (p.Gln163=)
c.690G>A (p.Gln230=)
c.576G>A (p.Gln192=)
c.408G>A (p.Gln136=)
c.*82G>A (n.*82G>A)
dbSNP gnomAD v2 gnomAD v4
1g.119033248T>ACA341436708WARS2c.746A>T (p.Gln249Leu)
c.*112A>T (n.*112A>T)
c.692A>T (p.Gln231Leu)
c.464A>T (p.Gln155Leu)
c.677A>T (p.Gln226Leu)
c.488A>T (p.Gln163Leu)
c.689A>T (p.Gln230Leu)
c.575A>T (p.Gln192Leu)
c.407A>T (p.Gln136Leu)
c.*81A>T (n.*81A>T)
1g.119033248T>CCA341436709WARS2c.746A>G (p.Gln249Arg)
c.*112A>G (n.*112A>G)
c.692A>G (p.Gln231Arg)
c.464A>G (p.Gln155Arg)
c.677A>G (p.Gln226Arg)
c.488A>G (p.Gln163Arg)
c.689A>G (p.Gln230Arg)
c.575A>G (p.Gln192Arg)
c.407A>G (p.Gln136Arg)
c.*81A>G (n.*81A>G)
1g.119033248T>GCA341436710WARS2c.746A>C (p.Gln249Pro)
c.*112A>C (n.*112A>C)
c.692A>C (p.Gln231Pro)
c.464A>C (p.Gln155Pro)
c.677A>C (p.Gln226Pro)
c.488A>C (p.Gln163Pro)
c.689A>C (p.Gln230Pro)
c.575A>C (p.Gln192Pro)
c.407A>C (p.Gln136Pro)
c.*81A>C (n.*81A>C)
1g.119033249G>ACA341436711WARS2c.745C>T (p.Gln249Ter)
c.*111C>T (n.*111C>T)
c.691C>T (p.Gln231Ter)
c.463C>T (p.Gln155Ter)
c.676C>T (p.Gln226Ter)
c.487C>T (p.Gln163Ter)
c.688C>T (p.Gln230Ter)
c.574C>T (p.Gln192Ter)
c.406C>T (p.Gln136Ter)
c.*80C>T (n.*80C>T)
COSMIC
1g.119033249G>CCA341436712WARS2c.745C>G (p.Gln249Glu)
c.*111C>G (n.*111C>G)
c.691C>G (p.Gln231Glu)
c.463C>G (p.Gln155Glu)
c.676C>G (p.Gln226Glu)
c.487C>G (p.Gln163Glu)
c.688C>G (p.Gln230Glu)
c.574C>G (p.Gln192Glu)
c.406C>G (p.Gln136Glu)
c.*80C>G (n.*80C>G)
1g.119033249G>TCA341436713WARS2c.745C>A (p.Gln249Lys)
c.*111C>A (n.*111C>A)
c.691C>A (p.Gln231Lys)
c.463C>A (p.Gln155Lys)
c.676C>A (p.Gln226Lys)
c.487C>A (p.Gln163Lys)
c.688C>A (p.Gln230Lys)
c.574C>A (p.Gln192Lys)
c.406C>A (p.Gln136Lys)
c.*80C>A (n.*80C>A)
1g.119033250C>ACA420192804WARS2c.744G>T (p.Val248=)
c.*110G>T (n.*110G>T)
c.690G>T (p.Val230=)
c.462G>T (p.Val154=)
c.675G>T (p.Val225=)
c.486G>T (p.Val162=)
c.687G>T (p.Val229=)
c.573G>T (p.Val191=)
c.405G>T (p.Val135=)
c.*79G>T (n.*79G>T)
1g.119033250C=CA1192128213WARS2c.744G= (p.Val248=)
c.*110G= (n.*110G=)
c.690G= (p.Val230=)
c.462G= (p.Val154=)
c.675G= (p.Val225=)
c.486G= (p.Val162=)
c.687G= (p.Val229=)
c.573G= (p.Val191=)
c.405G= (p.Val135=)
c.*79G= (n.*79G=)
1g.119033250C>GCA420192806WARS2c.744G>C (p.Val248=)
c.*110G>C (n.*110G>C)
c.690G>C (p.Val230=)
c.462G>C (p.Val154=)
c.675G>C (p.Val225=)
c.486G>C (p.Val162=)
c.687G>C (p.Val229=)
c.573G>C (p.Val191=)
c.405G>C (p.Val135=)
c.*79G>C (n.*79G>C)
1g.119033250C>TCA1035227WARS2c.744G>A (p.Val248=)
c.*110G>A (n.*110G>A)
c.690G>A (p.Val230=)
c.462G>A (p.Val154=)
c.675G>A (p.Val225=)
c.486G>A (p.Val162=)
c.687G>A (p.Val229=)
c.573G>A (p.Val191=)
c.405G>A (p.Val135=)
c.*79G>A (n.*79G>A)
dbSNP ExAC gnomAD v4
1g.119033251A=CA1192128214WARS2c.743T= (p.Val248=)
c.*109T= (n.*109T=)
c.689T= (p.Val230=)
c.461T= (p.Val154=)
c.674T= (p.Val225=)
c.485T= (p.Val162=)
c.686T= (p.Val229=)
c.572T= (p.Val191=)
c.404T= (p.Val135=)
c.*78T= (n.*78T=)
1g.119033251A>CCA341436714WARS2c.743T>G (p.Val248Gly)
c.*109T>G (n.*109T>G)
c.689T>G (p.Val230Gly)
c.461T>G (p.Val154Gly)
c.674T>G (p.Val225Gly)
c.485T>G (p.Val162Gly)
c.686T>G (p.Val229Gly)
c.572T>G (p.Val191Gly)
c.404T>G (p.Val135Gly)
c.*78T>G (n.*78T>G)
1g.119033251A>GCA341436715WARS2c.743T>C (p.Val248Ala)
c.*109T>C (n.*109T>C)
c.689T>C (p.Val230Ala)
c.461T>C (p.Val154Ala)
c.674T>C (p.Val225Ala)
c.485T>C (p.Val162Ala)
c.686T>C (p.Val229Ala)
c.572T>C (p.Val191Ala)
c.404T>C (p.Val135Ala)
c.*78T>C (n.*78T>C)
dbSNP gnomAD v2 gnomAD v4
1g.119033251A>TCA341436716WARS2c.743T>A (p.Val248Glu)
c.*109T>A (n.*109T>A)
c.689T>A (p.Val230Glu)
c.461T>A (p.Val154Glu)
c.674T>A (p.Val225Glu)
c.485T>A (p.Val162Glu)
c.686T>A (p.Val229Glu)
c.572T>A (p.Val191Glu)
c.404T>A (p.Val135Glu)
c.*78T>A (n.*78T>A)
1g.119033252C>ACA341436718WARS2c.742G>T (p.Val248Leu)
c.*108G>T (n.*108G>T)
c.688G>T (p.Val230Leu)
c.460G>T (p.Val154Leu)
c.673G>T (p.Val225Leu)
c.484G>T (p.Val162Leu)
c.685G>T (p.Val229Leu)
c.571G>T (p.Val191Leu)
c.403G>T (p.Val135Leu)
c.*77G>T (n.*77G>T)
1g.119033252C>GCA341436719WARS2c.742G>C (p.Val248Leu)
c.*108G>C (n.*108G>C)
c.688G>C (p.Val230Leu)
c.460G>C (p.Val154Leu)
c.673G>C (p.Val225Leu)
c.484G>C (p.Val162Leu)
c.685G>C (p.Val229Leu)
c.571G>C (p.Val191Leu)
c.403G>C (p.Val135Leu)
c.*77G>C (n.*77G>C)
1g.119033252C>TCA341436717WARS2c.742G>A (p.Val248Met)
c.*108G>A (n.*108G>A)
c.688G>A (p.Val230Met)
c.460G>A (p.Val154Met)
c.673G>A (p.Val225Met)
c.484G>A (p.Val162Met)
c.685G>A (p.Val229Met)
c.571G>A (p.Val191Met)
c.403G>A (p.Val135Met)
c.*77G>A (n.*77G>A)
1g.119033253T>ACA420192810WARS2c.741A>T (p.Ile247=)
c.*107A>T (n.*107A>T)
c.687A>T (p.Ile229=)
c.459A>T (p.Ile153=)
c.672A>T (p.Ile224=)
c.483A>T (p.Ile161=)
c.684A>T (p.Ile228=)
c.570A>T (p.Ile190=)
c.402A>T (p.Ile134=)
c.*76A>T (n.*76A>T)
dbSNP gnomAD v2 gnomAD v4
1g.119033253T>CCA341436720WARS2c.741A>G (p.Ile247Met)
c.*107A>G (n.*107A>G)
c.687A>G (p.Ile229Met)
c.459A>G (p.Ile153Met)
c.672A>G (p.Ile224Met)
c.483A>G (p.Ile161Met)
c.684A>G (p.Ile228Met)
c.570A>G (p.Ile190Met)
c.402A>G (p.Ile134Met)
c.*76A>G (n.*76A>G)
1g.119033253T>GCA420192812WARS2c.741A>C (p.Ile247=)
c.*107A>C (n.*107A>C)
c.687A>C (p.Ile229=)
c.459A>C (p.Ile153=)
c.672A>C (p.Ile224=)
c.483A>C (p.Ile161=)
c.684A>C (p.Ile228=)
c.570A>C (p.Ile190=)
c.402A>C (p.Ile134=)
c.*76A>C (n.*76A>C)
1g.119033253T=CA1192128215WARS2c.741A= (p.Ile247=)
c.*107A= (n.*107A=)
c.687A= (p.Ile229=)
c.459A= (p.Ile153=)
c.672A= (p.Ile224=)
c.483A= (p.Ile161=)
c.684A= (p.Ile228=)
c.570A= (p.Ile190=)
c.402A= (p.Ile134=)
c.*76A= (n.*76A=)
1g.119033254A>CCA341436721WARS2c.740T>G (p.Ile247Arg)
c.*106T>G (n.*106T>G)
c.686T>G (p.Ile229Arg)
c.458T>G (p.Ile153Arg)
c.671T>G (p.Ile224Arg)
c.482T>G (p.Ile161Arg)
c.683T>G (p.Ile228Arg)
c.569T>G (p.Ile190Arg)
c.401T>G (p.Ile134Arg)
c.*75T>G (n.*75T>G)
1g.119033254A>GCA341436722WARS2c.740T>C (p.Ile247Thr)
c.*106T>C (n.*106T>C)
c.686T>C (p.Ile229Thr)
c.458T>C (p.Ile153Thr)
c.671T>C (p.Ile224Thr)
c.482T>C (p.Ile161Thr)
c.683T>C (p.Ile228Thr)
c.569T>C (p.Ile190Thr)
c.401T>C (p.Ile134Thr)
c.*75T>C (n.*75T>C)
gnomAD v4
1g.119033254A>TCA341436723WARS2c.740T>A (p.Ile247Lys)
c.*106T>A (n.*106T>A)
c.686T>A (p.Ile229Lys)
c.458T>A (p.Ile153Lys)
c.671T>A (p.Ile224Lys)
c.482T>A (p.Ile161Lys)
c.683T>A (p.Ile228Lys)
c.569T>A (p.Ile190Lys)
c.401T>A (p.Ile134Lys)
c.*75T>A (n.*75T>A)
1g.119033255T>ACA341436724WARS2c.739A>T (p.Ile247Leu)
c.*105A>T (n.*105A>T)
c.685A>T (p.Ile229Leu)
c.457A>T (p.Ile153Leu)
c.670A>T (p.Ile224Leu)
c.481A>T (p.Ile161Leu)
c.682A>T (p.Ile228Leu)
c.568A>T (p.Ile190Leu)
c.400A>T (p.Ile134Leu)
c.*74A>T (n.*74A>T)
gnomAD v4
1g.119033255T>CCA341436725WARS2c.739A>G (p.Ile247Val)
c.*105A>G (n.*105A>G)
c.685A>G (p.Ile229Val)
c.457A>G (p.Ile153Val)
c.670A>G (p.Ile224Val)
c.481A>G (p.Ile161Val)
c.682A>G (p.Ile228Val)
c.568A>G (p.Ile190Val)
c.400A>G (p.Ile134Val)
c.*74A>G (n.*74A>G)
gnomAD v4
1g.119033255T>GCA341436726WARS2c.739A>C (p.Ile247Leu)
c.*105A>C (n.*105A>C)
c.685A>C (p.Ile229Leu)
c.457A>C (p.Ile153Leu)
c.670A>C (p.Ile224Leu)
c.481A>C (p.Ile161Leu)
c.682A>C (p.Ile228Leu)
c.568A>C (p.Ile190Leu)
c.400A>C (p.Ile134Leu)
c.*74A>C (n.*74A>C)
1g.119033256C>ACA341436727WARS2c.738G>T (p.Glu246Asp)
c.*104G>T (n.*104G>T)
c.684G>T (p.Glu228Asp)
c.456G>T (p.Glu152Asp)
c.669G>T (p.Glu223Asp)
c.480G>T (p.Glu160Asp)
c.681G>T (p.Glu227Asp)
c.567G>T (p.Glu189Asp)
c.399G>T (p.Glu133Asp)
c.*73G>T (n.*73G>T)
dbSNP gnomAD v3 gnomAD v4
1g.119033256C=CA1192128216WARS2c.738G= (p.Glu246=)
c.*104G= (n.*104G=)
c.684G= (p.Glu228=)
c.456G= (p.Glu152=)
c.669G= (p.Glu223=)
c.480G= (p.Glu160=)
c.681G= (p.Glu227=)
c.567G= (p.Glu189=)
c.399G= (p.Glu133=)
c.*73G= (n.*73G=)
1g.119033256C>GCA341436728WARS2c.738G>C (p.Glu246Asp)
c.*104G>C (n.*104G>C)
c.684G>C (p.Glu228Asp)
c.456G>C (p.Glu152Asp)
c.669G>C (p.Glu223Asp)
c.480G>C (p.Glu160Asp)
c.681G>C (p.Glu227Asp)
c.567G>C (p.Glu189Asp)
c.399G>C (p.Glu133Asp)
c.*73G>C (n.*73G>C)
gnomAD v4
1g.119033256C>TCA420192819WARS2c.738G>A (p.Glu246=)
c.*104G>A (n.*104G>A)
c.684G>A (p.Glu228=)
c.456G>A (p.Glu152=)
c.669G>A (p.Glu223=)
c.480G>A (p.Glu160=)
c.681G>A (p.Glu227=)
c.567G>A (p.Glu189=)
c.399G>A (p.Glu133=)
c.*73G>A (n.*73G>A)
dbSNP
1g.119033257T>ACA341436729WARS2c.737A>T (p.Glu246Val)
c.*103A>T (n.*103A>T)
c.683A>T (p.Glu228Val)
c.455A>T (p.Glu152Val)
c.668A>T (p.Glu223Val)
c.479A>T (p.Glu160Val)
c.680A>T (p.Glu227Val)
c.566A>T (p.Glu189Val)
c.398A>T (p.Glu133Val)
c.*72A>T (n.*72A>T)
1g.119033257T>CCA341436730WARS2c.737A>G (p.Glu246Gly)
c.*103A>G (n.*103A>G)
c.683A>G (p.Glu228Gly)
c.455A>G (p.Glu152Gly)
c.668A>G (p.Glu223Gly)
c.479A>G (p.Glu160Gly)
c.680A>G (p.Glu227Gly)
c.566A>G (p.Glu189Gly)
c.398A>G (p.Glu133Gly)
c.*72A>G (n.*72A>G)
1g.119033257T>GCA341436731WARS2c.737A>C (p.Glu246Ala)
c.*103A>C (n.*103A>C)
c.683A>C (p.Glu228Ala)
c.455A>C (p.Glu152Ala)
c.668A>C (p.Glu223Ala)
c.479A>C (p.Glu160Ala)
c.680A>C (p.Glu227Ala)
c.566A>C (p.Glu189Ala)
c.398A>C (p.Glu133Ala)
c.*72A>C (n.*72A>C)
1g.119033258C>ACA341436732WARS2c.736G>T (p.Glu246Ter)
c.*102G>T (n.*102G>T)
c.682G>T (p.Glu228Ter)
c.454G>T (p.Glu152Ter)
c.667G>T (p.Glu223Ter)
c.478G>T (p.Glu160Ter)
c.679G>T (p.Glu227Ter)
c.565G>T (p.Glu189Ter)
c.397G>T (p.Glu133Ter)
c.*71G>T (n.*71G>T)
1g.119033258C=CA1148399470WARS2c.736G= (p.Glu246=)
c.*102G= (n.*102G=)
c.682G= (p.Glu228=)
c.454G= (p.Glu152=)
c.667G= (p.Glu223=)
c.478G= (p.Glu160=)
c.679G= (p.Glu227=)
c.565G= (p.Glu189=)
c.397G= (p.Glu133=)
c.*71G= (n.*71G=)
1g.119033258C>GCA30376566WARS2c.736G>C (p.Glu246Gln)
c.*102G>C (n.*102G>C)
c.682G>C (p.Glu228Gln)
c.454G>C (p.Glu152Gln)
c.667G>C (p.Glu223Gln)
c.478G>C (p.Glu160Gln)
c.679G>C (p.Glu227Gln)
c.565G>C (p.Glu189Gln)
c.397G>C (p.Glu133Gln)
c.*71G>C (n.*71G>C)
dbSNP gnomAD v4
1g.119033258C>TCA341436733WARS2c.736G>A (p.Glu246Lys)
c.*102G>A (n.*102G>A)
c.682G>A (p.Glu228Lys)
c.454G>A (p.Glu152Lys)
c.667G>A (p.Glu223Lys)
c.478G>A (p.Glu160Lys)
c.679G>A (p.Glu227Lys)
c.565G>A (p.Glu189Lys)
c.397G>A (p.Glu133Lys)
c.*71G>A (n.*71G>A)
gnomAD v4
1g.119033259C>ACA341436735WARS2c.735G>T (p.Glu245Asp)
c.*101G>T (n.*101G>T)
c.681G>T (p.Glu227Asp)
c.453G>T (p.Glu151Asp)
c.666G>T (p.Glu222Asp)
c.477G>T (p.Glu159Asp)
c.678G>T (p.Glu226Asp)
c.564G>T (p.Glu188Asp)
c.396G>T (p.Glu132Asp)
c.*70G>T (n.*70G>T)
1g.119033259C=CA1192128217WARS2c.735G= (p.Glu245=)
c.*101G= (n.*101G=)
c.681G= (p.Glu227=)
c.453G= (p.Glu151=)
c.666G= (p.Glu222=)
c.477G= (p.Glu159=)
c.678G= (p.Glu226=)
c.564G= (p.Glu188=)
c.396G= (p.Glu132=)
c.*70G= (n.*70G=)
1g.119033259C>GCA341436734WARS2c.735G>C (p.Glu245Asp)
c.*101G>C (n.*101G>C)
c.681G>C (p.Glu227Asp)
c.453G>C (p.Glu151Asp)
c.666G>C (p.Glu222Asp)
c.477G>C (p.Glu159Asp)
c.678G>C (p.Glu226Asp)
c.564G>C (p.Glu188Asp)
c.396G>C (p.Glu132Asp)
c.*70G>C (n.*70G>C)
dbSNP gnomAD v4
1g.119033259C>TCA420192825WARS2c.735G>A (p.Glu245=)
c.*101G>A (n.*101G>A)
c.681G>A (p.Glu227=)
c.453G>A (p.Glu151=)
c.666G>A (p.Glu222=)
c.477G>A (p.Glu159=)
c.678G>A (p.Glu226=)
c.564G>A (p.Glu188=)
c.396G>A (p.Glu132=)
c.*70G>A (n.*70G>A)
1g.119033260T>ACA341436736WARS2c.734A>T (p.Glu245Val)
c.*100A>T (n.*100A>T)
c.680A>T (p.Glu227Val)
c.452A>T (p.Glu151Val)
c.665A>T (p.Glu222Val)
c.476A>T (p.Glu159Val)
c.677A>T (p.Glu226Val)
c.563A>T (p.Glu188Val)
c.395A>T (p.Glu132Val)
c.*69A>T (n.*69A>T)
1g.119033260T>CCA341436737WARS2c.734A>G (p.Glu245Gly)
c.*100A>G (n.*100A>G)
c.680A>G (p.Glu227Gly)
c.452A>G (p.Glu151Gly)
c.665A>G (p.Glu222Gly)
c.476A>G (p.Glu159Gly)
c.677A>G (p.Glu226Gly)
c.563A>G (p.Glu188Gly)
c.395A>G (p.Glu132Gly)
c.*69A>G (n.*69A>G)
1g.119033260T>GCA341436738WARS2c.734A>C (p.Glu245Ala)
c.*100A>C (n.*100A>C)
c.680A>C (p.Glu227Ala)
c.452A>C (p.Glu151Ala)
c.665A>C (p.Glu222Ala)
c.476A>C (p.Glu159Ala)
c.677A>C (p.Glu226Ala)
c.563A>C (p.Glu188Ala)
c.395A>C (p.Glu132Ala)
c.*69A>C (n.*69A>C)
1g.119033261C>ACA341436739WARS2c.733G>T (p.Glu245Ter)
c.*99G>T (n.*99G>T)
c.679G>T (p.Glu227Ter)
c.451G>T (p.Glu151Ter)
c.664G>T (p.Glu222Ter)
c.475G>T (p.Glu159Ter)
c.676G>T (p.Glu226Ter)
c.562G>T (p.Glu188Ter)
c.394G>T (p.Glu132Ter)
c.*68G>T (n.*68G>T)
gnomAD v4
1g.119033261C=CA1192128218WARS2c.733G= (p.Glu245=)
c.*99G= (n.*99G=)
c.679G= (p.Glu227=)
c.451G= (p.Glu151=)
c.664G= (p.Glu222=)
c.475G= (p.Glu159=)
c.676G= (p.Glu226=)
c.562G= (p.Glu188=)
c.394G= (p.Glu132=)
c.*68G= (n.*68G=)
1g.119033261C>GCA341436740WARS2c.733G>C (p.Glu245Gln)
c.*99G>C (n.*99G>C)
c.679G>C (p.Glu227Gln)
c.451G>C (p.Glu151Gln)
c.664G>C (p.Glu222Gln)
c.475G>C (p.Glu159Gln)
c.676G>C (p.Glu226Gln)
c.562G>C (p.Glu188Gln)
c.394G>C (p.Glu132Gln)
c.*68G>C (n.*68G>C)
1g.119033261C>TCA341436741WARS2c.733G>A (p.Glu245Lys)
c.*99G>A (n.*99G>A)
c.679G>A (p.Glu227Lys)
c.451G>A (p.Glu151Lys)
c.664G>A (p.Glu222Lys)
c.475G>A (p.Glu159Lys)
c.676G>A (p.Glu226Lys)
c.562G>A (p.Glu188Lys)
c.394G>A (p.Glu132Lys)
c.*68G>A (n.*68G>A)
dbSNP gnomAD v2 gnomAD v4
1g.119033262T>ACA420192831WARS2c.732A>T (p.Pro244=)
c.*98A>T (n.*98A>T)
c.678A>T (p.Pro226=)
c.450A>T (p.Pro150=)
c.663A>T (p.Pro221=)
c.474A>T (p.Pro158=)
c.675A>T (p.Pro225=)
c.561A>T (p.Pro187=)
c.393A>T (p.Pro131=)
c.*67A>T (n.*67A>T)
1g.119033262T>CCA420192834WARS2c.732A>G (p.Pro244=)
c.*98A>G (n.*98A>G)
c.678A>G (p.Pro226=)
c.450A>G (p.Pro150=)
c.663A>G (p.Pro221=)
c.474A>G (p.Pro158=)
c.675A>G (p.Pro225=)
c.561A>G (p.Pro187=)
c.393A>G (p.Pro131=)
c.*67A>G (n.*67A>G)
1g.119033262T>GCA420192833WARS2c.732A>C (p.Pro244=)
c.*98A>C (n.*98A>C)
c.678A>C (p.Pro226=)
c.450A>C (p.Pro150=)
c.663A>C (p.Pro221=)
c.474A>C (p.Pro158=)
c.675A>C (p.Pro225=)
c.561A>C (p.Pro187=)
c.393A>C (p.Pro131=)
c.*67A>C (n.*67A>C)
1g.119033263G>ACA341436744WARS2c.731C>T (p.Pro244Leu)
c.*97C>T (n.*97C>T)
c.677C>T (p.Pro226Leu)
c.449C>T (p.Pro150Leu)
c.662C>T (p.Pro221Leu)
c.473C>T (p.Pro158Leu)
c.674C>T (p.Pro225Leu)
c.560C>T (p.Pro187Leu)
c.392C>T (p.Pro131Leu)
c.*66C>T (n.*66C>T)
1g.119033263G>CCA341436742WARS2c.731C>G (p.Pro244Arg)
c.*97C>G (n.*97C>G)
c.677C>G (p.Pro226Arg)
c.449C>G (p.Pro150Arg)
c.662C>G (p.Pro221Arg)
c.473C>G (p.Pro158Arg)
c.674C>G (p.Pro225Arg)
c.560C>G (p.Pro187Arg)
c.392C>G (p.Pro131Arg)
c.*66C>G (n.*66C>G)
1g.119033263G>TCA341436743WARS2c.731C>A (p.Pro244Gln)
c.*97C>A (n.*97C>A)
c.677C>A (p.Pro226Gln)
c.449C>A (p.Pro150Gln)
c.662C>A (p.Pro221Gln)
c.473C>A (p.Pro158Gln)
c.674C>A (p.Pro225Gln)
c.560C>A (p.Pro187Gln)
c.392C>A (p.Pro131Gln)
c.*66C>A (n.*66C>A)
1g.119033264G>ACA1035228WARS2c.730C>T (p.Pro244Ser)
c.*96C>T (n.*96C>T)
c.676C>T (p.Pro226Ser)
c.448C>T (p.Pro150Ser)
c.661C>T (p.Pro221Ser)
c.472C>T (p.Pro158Ser)
c.673C>T (p.Pro225Ser)
c.559C>T (p.Pro187Ser)
c.391C>T (p.Pro131Ser)
c.*65C>T (n.*65C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.119033264G>CCA341436745WARS2c.730C>G (p.Pro244Ala)
c.*96C>G (n.*96C>G)
c.676C>G (p.Pro226Ala)
c.448C>G (p.Pro150Ala)
c.661C>G (p.Pro221Ala)
c.472C>G (p.Pro158Ala)
c.673C>G (p.Pro225Ala)
c.559C>G (p.Pro187Ala)
c.391C>G (p.Pro131Ala)
c.*65C>G (n.*65C>G)
dbSNP gnomAD v2 gnomAD v4
1g.119033264G=CA1192128219WARS2c.730C= (p.Pro244=)
c.*96C= (n.*96C=)
c.676C= (p.Pro226=)
c.448C= (p.Pro150=)
c.661C= (p.Pro221=)
c.472C= (p.Pro158=)
c.673C= (p.Pro225=)
c.559C= (p.Pro187=)
c.391C= (p.Pro131=)
c.*65C= (n.*65C=)
1g.119033264G>TCA341436746WARS2c.730C>A (p.Pro244Thr)
c.*96C>A (n.*96C>A)
c.676C>A (p.Pro226Thr)
c.448C>A (p.Pro150Thr)
c.661C>A (p.Pro221Thr)
c.472C>A (p.Pro158Thr)
c.673C>A (p.Pro225Thr)
c.559C>A (p.Pro187Thr)
c.391C>A (p.Pro131Thr)
c.*65C>A (n.*65C>A)
1g.119033265G>ACA420192840WARS2c.729C>T (p.Ser243=)
c.*95C>T (n.*95C>T)
c.675C>T (p.Ser225=)
c.447C>T (p.Ser149=)
c.660C>T (p.Ser220=)
c.471C>T (p.Ser157=)
c.672C>T (p.Ser224=)
c.558C>T (p.Ser186=)
c.390C>T (p.Ser130=)
c.*64C>T (n.*64C>T)
gnomAD v4
1g.119033265G>CCA341436747WARS2c.729C>G (p.Ser243Arg)
c.*95C>G (n.*95C>G)
c.675C>G (p.Ser225Arg)
c.447C>G (p.Ser149Arg)
c.660C>G (p.Ser220Arg)
c.471C>G (p.Ser157Arg)
c.672C>G (p.Ser224Arg)
c.558C>G (p.Ser186Arg)
c.390C>G (p.Ser130Arg)
c.*64C>G (n.*64C>G)
1g.119033265G>TCA341436748WARS2c.729C>A (p.Ser243Arg)
c.*95C>A (n.*95C>A)
c.675C>A (p.Ser225Arg)
c.447C>A (p.Ser149Arg)
c.660C>A (p.Ser220Arg)
c.471C>A (p.Ser157Arg)
c.672C>A (p.Ser224Arg)
c.558C>A (p.Ser186Arg)
c.390C>A (p.Ser130Arg)
c.*64C>A (n.*64C>A)
1g.119033265_119033269delinsGCTGTCA1192128220WARS2c.725_729delinsACAGC (p.Asp242=)
c.*91_*95delinsACAGC (n.*91_*95delinsACAGC)
c.671_675delinsACAGC (p.Asp224=)
c.443_447delinsACAGC (p.Asp148=)
c.656_660delinsACAGC (p.Asp219=)
c.467_471delinsACAGC (p.Asp156=)
c.668_672delinsACAGC (p.Asp223=)
c.554_558delinsACAGC (p.Asp185=)
c.386_390delinsACAGC (p.Asp129=)
c.*60_*64delinsACAGC (n.*60_*64delinsACAGC)
1g.119033266C>ACA341436751WARS2c.728G>T (p.Ser243Ile)
c.*94G>T (n.*94G>T)
c.674G>T (p.Ser225Ile)
c.446G>T (p.Ser149Ile)
c.659G>T (p.Ser220Ile)
c.470G>T (p.Ser157Ile)
c.671G>T (p.Ser224Ile)
c.557G>T (p.Ser186Ile)
c.389G>T (p.Ser130Ile)
c.*63G>T (n.*63G>T)
1g.119033266C>GCA341436749WARS2c.728G>C (p.Ser243Thr)
c.*94G>C (n.*94G>C)
c.674G>C (p.Ser225Thr)
c.446G>C (p.Ser149Thr)
c.659G>C (p.Ser220Thr)
c.470G>C (p.Ser157Thr)
c.671G>C (p.Ser224Thr)
c.557G>C (p.Ser186Thr)
c.389G>C (p.Ser130Thr)
c.*63G>C (n.*63G>C)
1g.119033266C>TCA341436750WARS2c.728G>A (p.Ser243Asn)
c.*94G>A (n.*94G>A)
c.674G>A (p.Ser225Asn)
c.446G>A (p.Ser149Asn)
c.659G>A (p.Ser220Asn)
c.470G>A (p.Ser157Asn)
c.671G>A (p.Ser224Asn)
c.557G>A (p.Ser186Asn)
c.389G>A (p.Ser130Asn)
c.*63G>A (n.*63G>A)
1g.119033270_119033273delCA1006274341WARS2c.725_728del (p.Asp242AlafsTer5)
c.*91_*94del (n.*91_*94del)
c.671_674del (p.Asp224AlafsTer5)
c.443_446del (p.Asp148AlafsTer5)
c.656_659del (p.Asp219AlafsTer5)
c.467_470del (p.Asp156AlafsTer5)
c.668_671del (p.Asp223AlafsTer5)
c.554_557del (p.Asp185AlafsTer5)
c.386_389del (p.Asp129AlafsTer5)
c.*60_*63del (n.*60_*63del)
dbSNP gnomAD v3 gnomAD v4
1g.119033267T>ACA341436752WARS2c.727A>T (p.Ser243Cys)
c.*93A>T (n.*93A>T)
c.673A>T (p.Ser225Cys)
c.445A>T (p.Ser149Cys)
c.658A>T (p.Ser220Cys)
c.469A>T (p.Ser157Cys)
c.670A>T (p.Ser224Cys)
c.556A>T (p.Ser186Cys)
c.388A>T (p.Ser130Cys)
c.*62A>T (n.*62A>T)
1g.119033267T>CCA341436753WARS2c.727A>G (p.Ser243Gly)
c.*93A>G (n.*93A>G)
c.673A>G (p.Ser225Gly)
c.445A>G (p.Ser149Gly)
c.658A>G (p.Ser220Gly)
c.469A>G (p.Ser157Gly)
c.670A>G (p.Ser224Gly)
c.556A>G (p.Ser186Gly)
c.388A>G (p.Ser130Gly)
c.*62A>G (n.*62A>G)
1g.119033267T>GCA341436754WARS2c.727A>C (p.Ser243Arg)
c.*93A>C (n.*93A>C)
c.673A>C (p.Ser225Arg)
c.445A>C (p.Ser149Arg)
c.658A>C (p.Ser220Arg)
c.469A>C (p.Ser157Arg)
c.670A>C (p.Ser224Arg)
c.556A>C (p.Ser186Arg)
c.388A>C (p.Ser130Arg)
c.*62A>C (n.*62A>C)
1g.119033268G>ACA420192846WARS2c.726C>T (p.Asp242=)
c.*92C>T (n.*92C>T)
c.672C>T (p.Asp224=)
c.444C>T (p.Asp148=)
c.657C>T (p.Asp219=)
c.468C>T (p.Asp156=)
c.669C>T (p.Asp223=)
c.555C>T (p.Asp185=)
c.387C>T (p.Asp129=)
c.*61C>T (n.*61C>T)
1g.119033268G>CCA341436755WARS2c.726C>G (p.Asp242Glu)
c.*92C>G (n.*92C>G)
c.672C>G (p.Asp224Glu)
c.444C>G (p.Asp148Glu)
c.657C>G (p.Asp219Glu)
c.468C>G (p.Asp156Glu)
c.669C>G (p.Asp223Glu)
c.555C>G (p.Asp185Glu)
c.387C>G (p.Asp129Glu)
c.*61C>G (n.*61C>G)
1g.119033268G>TCA341436756WARS2c.726C>A (p.Asp242Glu)
c.*92C>A (n.*92C>A)
c.672C>A (p.Asp224Glu)
c.444C>A (p.Asp148Glu)
c.657C>A (p.Asp219Glu)
c.468C>A (p.Asp156Glu)
c.669C>A (p.Asp223Glu)
c.555C>A (p.Asp185Glu)
c.387C>A (p.Asp129Glu)
c.*61C>A (n.*61C>A)
1g.119033269T>ACA341436759WARS2c.725A>T (p.Asp242Val)
c.*91A>T (n.*91A>T)
c.671A>T (p.Asp224Val)
c.443A>T (p.Asp148Val)
c.656A>T (p.Asp219Val)
c.467A>T (p.Asp156Val)
c.668A>T (p.Asp223Val)
c.554A>T (p.Asp185Val)
c.386A>T (p.Asp129Val)
c.*60A>T (n.*60A>T)
1g.119033269T>CCA341436758WARS2c.725A>G (p.Asp242Gly)
c.*91A>G (n.*91A>G)
c.671A>G (p.Asp224Gly)
c.443A>G (p.Asp148Gly)
c.656A>G (p.Asp219Gly)
c.467A>G (p.Asp156Gly)
c.668A>G (p.Asp223Gly)
c.554A>G (p.Asp185Gly)
c.386A>G (p.Asp129Gly)
c.*60A>G (n.*60A>G)
1g.119033269T>GCA341436757WARS2c.725A>C (p.Asp242Ala)
c.*91A>C (n.*91A>C)
c.671A>C (p.Asp224Ala)
c.443A>C (p.Asp148Ala)
c.656A>C (p.Asp219Ala)
c.467A>C (p.Asp156Ala)
c.668A>C (p.Asp223Ala)
c.554A>C (p.Asp185Ala)
c.386A>C (p.Asp129Ala)
c.*60A>C (n.*60A>C)
1g.119033270C>ACA341436760WARS2c.724G>T (p.Asp242Tyr)
c.*90G>T (n.*90G>T)
c.670G>T (p.Asp224Tyr)
c.442G>T (p.Asp148Tyr)
c.655G>T (p.Asp219Tyr)
c.466G>T (p.Asp156Tyr)
c.667G>T (p.Asp223Tyr)
c.553G>T (p.Asp185Tyr)
c.385G>T (p.Asp129Tyr)
c.*59G>T (n.*59G>T)
1g.119033270C>GCA341436761WARS2c.724G>C (p.Asp242His)
c.*90G>C (n.*90G>C)
c.670G>C (p.Asp224His)
c.442G>C (p.Asp148His)
c.655G>C (p.Asp219His)
c.466G>C (p.Asp156His)
c.667G>C (p.Asp223His)
c.553G>C (p.Asp185His)
c.385G>C (p.Asp129His)
c.*59G>C (n.*59G>C)
1g.119033270C>TCA341436762WARS2c.724G>A (p.Asp242Asn)
c.*90G>A (n.*90G>A)
c.670G>A (p.Asp224Asn)
c.442G>A (p.Asp148Asn)
c.655G>A (p.Asp219Asn)
c.466G>A (p.Asp156Asn)
c.667G>A (p.Asp223Asn)
c.553G>A (p.Asp185Asn)
c.385G>A (p.Asp129Asn)
c.*59G>A (n.*59G>A)
1g.119033271T>ACA420192852WARS2c.723A>T (p.Thr241=)
c.*89A>T (n.*89A>T)
c.669A>T (p.Thr223=)
c.441A>T (p.Thr147=)
c.654A>T (p.Thr218=)
c.465A>T (p.Thr155=)
c.666A>T (p.Thr222=)
c.552A>T (p.Thr184=)
c.384A>T (p.Thr128=)
c.*58A>T (n.*58A>T)
gnomAD v4
1g.119033271T>CCA420192850WARS2c.723A>G (p.Thr241=)
c.*89A>G (n.*89A>G)
c.669A>G (p.Thr223=)
c.441A>G (p.Thr147=)
c.654A>G (p.Thr218=)
c.465A>G (p.Thr155=)
c.666A>G (p.Thr222=)
c.552A>G (p.Thr184=)
c.384A>G (p.Thr128=)
c.*58A>G (n.*58A>G)
1g.119033271T>GCA420192849WARS2c.723A>C (p.Thr241=)
c.*89A>C (n.*89A>C)
c.669A>C (p.Thr223=)
c.441A>C (p.Thr147=)
c.654A>C (p.Thr218=)
c.465A>C (p.Thr155=)
c.666A>C (p.Thr222=)
c.552A>C (p.Thr184=)
c.384A>C (p.Thr128=)
c.*58A>C (n.*58A>C)
1g.119033272G>ACA341436763WARS2c.722C>T (p.Thr241Ile)
c.*88C>T (n.*88C>T)
c.668C>T (p.Thr223Ile)
c.440C>T (p.Thr147Ile)
c.653C>T (p.Thr218Ile)
c.464C>T (p.Thr155Ile)
c.665C>T (p.Thr222Ile)
c.551C>T (p.Thr184Ile)
c.383C>T (p.Thr128Ile)
c.*57C>T (n.*57C>T)
dbSNP gnomAD v4
1g.119033272G>CCA341436764WARS2c.722C>G (p.Thr241Arg)
c.*88C>G (n.*88C>G)
c.668C>G (p.Thr223Arg)
c.440C>G (p.Thr147Arg)
c.653C>G (p.Thr218Arg)
c.464C>G (p.Thr155Arg)
c.665C>G (p.Thr222Arg)
c.551C>G (p.Thr184Arg)
c.383C>G (p.Thr128Arg)
c.*57C>G (n.*57C>G)
gnomAD v4
1g.119033272G=CA1192128221WARS2c.722C= (p.Thr241=)
c.*88C= (n.*88C=)
c.668C= (p.Thr223=)
c.440C= (p.Thr147=)
c.653C= (p.Thr218=)
c.464C= (p.Thr155=)
c.665C= (p.Thr222=)
c.551C= (p.Thr184=)
c.383C= (p.Thr128=)
c.*57C= (n.*57C=)
1g.119033272G>TCA341436765WARS2c.722C>A (p.Thr241Lys)
c.*88C>A (n.*88C>A)
c.668C>A (p.Thr223Lys)
c.440C>A (p.Thr147Lys)
c.653C>A (p.Thr218Lys)
c.464C>A (p.Thr155Lys)
c.665C>A (p.Thr222Lys)
c.551C>A (p.Thr184Lys)
c.383C>A (p.Thr128Lys)
c.*57C>A (n.*57C>A)
1g.119033273T>ACA341436768WARS2c.721A>T (p.Thr241Ser)
c.*87A>T (n.*87A>T)
c.667A>T (p.Thr223Ser)
c.439A>T (p.Thr147Ser)
c.652A>T (p.Thr218Ser)
c.463A>T (p.Thr155Ser)
c.664A>T (p.Thr222Ser)
c.550A>T (p.Thr184Ser)
c.382A>T (p.Thr128Ser)
c.*56A>T (n.*56A>T)
1g.119033273T>CCA341436766WARS2c.721A>G (p.Thr241Ala)
c.*87A>G (n.*87A>G)
c.667A>G (p.Thr223Ala)
c.439A>G (p.Thr147Ala)
c.652A>G (p.Thr218Ala)
c.463A>G (p.Thr155Ala)
c.664A>G (p.Thr222Ala)
c.550A>G (p.Thr184Ala)
c.382A>G (p.Thr128Ala)
c.*56A>G (n.*56A>G)
1g.119033273T>GCA341436767WARS2c.721A>C (p.Thr241Pro)
c.*87A>C (n.*87A>C)
c.667A>C (p.Thr223Pro)
c.439A>C (p.Thr147Pro)
c.652A>C (p.Thr218Pro)
c.463A>C (p.Thr155Pro)
c.664A>C (p.Thr222Pro)
c.550A>C (p.Thr184Pro)
c.382A>C (p.Thr128Pro)
c.*56A>C (n.*56A>C)
1g.119033274T>ACA420192857WARS2c.720A>T (p.Ile240=)
c.*86A>T (n.*86A>T)
c.666A>T (p.Ile222=)
c.438A>T (p.Ile146=)
c.651A>T (p.Ile217=)
c.462A>T (p.Ile154=)
c.663A>T (p.Ile221=)
c.549A>T (p.Ile183=)
c.381A>T (p.Ile127=)
c.*55A>T (n.*55A>T)
1g.119033274T>CCA341436769WARS2c.720A>G (p.Ile240Met)
c.*86A>G (n.*86A>G)
c.666A>G (p.Ile222Met)
c.438A>G (p.Ile146Met)
c.651A>G (p.Ile217Met)
c.462A>G (p.Ile154Met)
c.663A>G (p.Ile221Met)
c.549A>G (p.Ile183Met)
c.381A>G (p.Ile127Met)
c.*55A>G (n.*55A>G)
1g.119033274T>GCA420192858WARS2c.720A>C (p.Ile240=)
c.*86A>C (n.*86A>C)
c.666A>C (p.Ile222=)
c.438A>C (p.Ile146=)
c.651A>C (p.Ile217=)
c.462A>C (p.Ile154=)
c.663A>C (p.Ile221=)
c.549A>C (p.Ile183=)
c.381A>C (p.Ile127=)
c.*55A>C (n.*55A>C)
1g.119033275A>CCA341436770WARS2c.719T>G (p.Ile240Arg)
c.*85T>G (n.*85T>G)
c.665T>G (p.Ile222Arg)
c.437T>G (p.Ile146Arg)
c.650T>G (p.Ile217Arg)
c.461T>G (p.Ile154Arg)
c.662T>G (p.Ile221Arg)
c.548T>G (p.Ile183Arg)
c.380T>G (p.Ile127Arg)
c.*54T>G (n.*54T>G)
1g.119033275A>GCA341436771WARS2c.719T>C (p.Ile240Thr)
c.*85T>C (n.*85T>C)
c.665T>C (p.Ile222Thr)
c.437T>C (p.Ile146Thr)
c.650T>C (p.Ile217Thr)
c.461T>C (p.Ile154Thr)
c.662T>C (p.Ile221Thr)
c.548T>C (p.Ile183Thr)
c.380T>C (p.Ile127Thr)
c.*54T>C (n.*54T>C)
1g.119033275A>TCA341436772WARS2c.719T>A (p.Ile240Lys)
c.*85T>A (n.*85T>A)
c.665T>A (p.Ile222Lys)
c.437T>A (p.Ile146Lys)
c.650T>A (p.Ile217Lys)
c.461T>A (p.Ile154Lys)
c.662T>A (p.Ile221Lys)
c.548T>A (p.Ile183Lys)
c.380T>A (p.Ile127Lys)
c.*54T>A (n.*54T>A)
1g.119033276T>ACA341436773WARS2c.718A>T (p.Ile240Leu)
c.*84A>T (n.*84A>T)
c.664A>T (p.Ile222Leu)
c.436A>T (p.Ile146Leu)
c.649A>T (p.Ile217Leu)
c.460A>T (p.Ile154Leu)
c.661A>T (p.Ile221Leu)
c.547A>T (p.Ile183Leu)
c.379A>T (p.Ile127Leu)
c.*53A>T (n.*53A>T)
1g.119033276T>CCA341436774WARS2c.718A>G (p.Ile240Val)
c.*84A>G (n.*84A>G)
c.664A>G (p.Ile222Val)
c.436A>G (p.Ile146Val)
c.649A>G (p.Ile217Val)
c.460A>G (p.Ile154Val)
c.661A>G (p.Ile221Val)
c.547A>G (p.Ile183Val)
c.379A>G (p.Ile127Val)
c.*53A>G (n.*53A>G)
dbSNP gnomAD v4
1g.119033276T>GCA341436775WARS2c.718A>C (p.Ile240Leu)
c.*84A>C (n.*84A>C)
c.664A>C (p.Ile222Leu)
c.436A>C (p.Ile146Leu)
c.649A>C (p.Ile217Leu)
c.460A>C (p.Ile154Leu)
c.661A>C (p.Ile221Leu)
c.547A>C (p.Ile183Leu)
c.379A>C (p.Ile127Leu)
c.*53A>C (n.*53A>C)
1g.119033276T=CA1192128222WARS2c.718A= (p.Ile240=)
c.*84A= (n.*84A=)
c.664A= (p.Ile222=)
c.436A= (p.Ile146=)
c.649A= (p.Ile217=)
c.460A= (p.Ile154=)
c.661A= (p.Ile221=)
c.547A= (p.Ile183=)
c.379A= (p.Ile127=)
c.*53A= (n.*53A=)
1g.119033277T>ACA420192862WARS2c.717A>T (p.Arg239=)
c.*83A>T (n.*83A>T)
c.663A>T (p.Arg221=)
c.435A>T (p.Arg145=)
c.648A>T (p.Arg216=)
c.459A>T (p.Arg153=)
c.660A>T (p.Arg220=)
c.546A>T (p.Arg182=)
c.378A>T (p.Arg126=)
c.*52A>T (n.*52A>T)
1g.119033277T>CCA420192863WARS2c.717A>G (p.Arg239=)
c.*83A>G (n.*83A>G)
c.663A>G (p.Arg221=)
c.435A>G (p.Arg145=)
c.648A>G (p.Arg216=)
c.459A>G (p.Arg153=)
c.660A>G (p.Arg220=)
c.546A>G (p.Arg182=)
c.378A>G (p.Arg126=)
c.*52A>G (n.*52A>G)
1g.119033277T>GCA420192864WARS2c.717A>C (p.Arg239=)
c.*83A>C (n.*83A>C)
c.663A>C (p.Arg221=)
c.435A>C (p.Arg145=)
c.648A>C (p.Arg216=)
c.459A>C (p.Arg153=)
c.660A>C (p.Arg220=)
c.546A>C (p.Arg182=)
c.378A>C (p.Arg126=)
c.*52A>C (n.*52A>C)
1g.119033278C>ACA341436776WARS2c.716G>T (p.Arg239Leu)
c.*82G>T (n.*82G>T)
c.662G>T (p.Arg221Leu)
c.434G>T (p.Arg145Leu)
c.647G>T (p.Arg216Leu)
c.458G>T (p.Arg153Leu)
c.659G>T (p.Arg220Leu)
c.545G>T (p.Arg182Leu)
c.377G>T (p.Arg126Leu)
c.*51G>T (n.*51G>T)
gnomAD v4
1g.119033278C=CA1192128223WARS2c.716G= (p.Arg239=)
c.*82G= (n.*82G=)
c.662G= (p.Arg221=)
c.434G= (p.Arg145=)
c.647G= (p.Arg216=)
c.458G= (p.Arg153=)
c.659G= (p.Arg220=)
c.545G= (p.Arg182=)
c.377G= (p.Arg126=)
c.*51G= (n.*51G=)
1g.119033278C>GCA341436777WARS2c.716G>C (p.Arg239Pro)
c.*82G>C (n.*82G>C)
c.662G>C (p.Arg221Pro)
c.434G>C (p.Arg145Pro)
c.647G>C (p.Arg216Pro)
c.458G>C (p.Arg153Pro)
c.659G>C (p.Arg220Pro)
c.545G>C (p.Arg182Pro)
c.377G>C (p.Arg126Pro)
c.*51G>C (n.*51G>C)
1g.119033278C>TCA1035229WARS2c.716G>A (p.Arg239Gln)
c.*82G>A (n.*82G>A)
c.662G>A (p.Arg221Gln)
c.434G>A (p.Arg145Gln)
c.647G>A (p.Arg216Gln)
c.458G>A (p.Arg153Gln)
c.659G>A (p.Arg220Gln)
c.545G>A (p.Arg182Gln)
c.377G>A (p.Arg126Gln)
c.*51G>A (n.*51G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.119033279G>ACA354947WARS2c.715C>T (p.Arg239Ter)
c.*81C>T (n.*81C>T)
c.661C>T (p.Arg221Ter)
c.433C>T (p.Arg145Ter)
c.646C>T (p.Arg216Ter)
c.457C>T (p.Arg153Ter)
c.658C>T (p.Arg220Ter)
c.544C>T (p.Arg182Ter)
c.376C>T (p.Arg126Ter)
c.*50C>T (n.*50C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.119033279G>CCA341436778WARS2c.715C>G (p.Arg239Gly)
c.*81C>G (n.*81C>G)
c.661C>G (p.Arg221Gly)
c.433C>G (p.Arg145Gly)
c.646C>G (p.Arg216Gly)
c.457C>G (p.Arg153Gly)
c.658C>G (p.Arg220Gly)
c.544C>G (p.Arg182Gly)
c.376C>G (p.Arg126Gly)
c.*50C>G (n.*50C>G)
1g.119033279G=CA1192128224WARS2c.715C= (p.Arg239=)
c.*81C= (n.*81C=)
c.661C= (p.Arg221=)
c.433C= (p.Arg145=)
c.646C= (p.Arg216=)
c.457C= (p.Arg153=)
c.658C= (p.Arg220=)
c.544C= (p.Arg182=)
c.376C= (p.Arg126=)
c.*50C= (n.*50C=)
1g.119033279G>TCA420192865WARS2c.715C>A (p.Arg239=)
c.*81C>A (n.*81C>A)
c.661C>A (p.Arg221=)
c.433C>A (p.Arg145=)
c.646C>A (p.Arg216=)
c.457C>A (p.Arg153=)
c.658C>A (p.Arg220=)
c.544C>A (p.Arg182=)
c.376C>A (p.Arg126=)
c.*50C>A (n.*50C>A)
1g.119033280G>ACA420192866WARS2c.714C>T (p.Val238=)
c.*80C>T (n.*80C>T)
c.660C>T (p.Val220=)
c.432C>T (p.Val144=)
c.645C>T (p.Val215=)
c.456C>T (p.Val152=)
c.657C>T (p.Val219=)
c.543C>T (p.Val181=)
c.375C>T (p.Val125=)
c.*49C>T (n.*49C>T)
1g.119033280G>CCA420192867WARS2c.714C>G (p.Val238=)
c.*80C>G (n.*80C>G)
c.660C>G (p.Val220=)
c.432C>G (p.Val144=)
c.645C>G (p.Val215=)
c.456C>G (p.Val152=)
c.657C>G (p.Val219=)
c.543C>G (p.Val181=)
c.375C>G (p.Val125=)
c.*49C>G (n.*49C>G)
1g.119033280G>TCA420192868WARS2c.714C>A (p.Val238=)
c.*80C>A (n.*80C>A)
c.660C>A (p.Val220=)
c.432C>A (p.Val144=)
c.645C>A (p.Val215=)
c.456C>A (p.Val152=)
c.657C>A (p.Val219=)
c.543C>A (p.Val181=)
c.375C>A (p.Val125=)
c.*49C>A (n.*49C>A)
1g.119033281A>CCA341436779WARS2c.713T>G (p.Val238Gly)
c.*79T>G (n.*79T>G)
c.659T>G (p.Val220Gly)
c.431T>G (p.Val144Gly)
c.644T>G (p.Val215Gly)
c.455T>G (p.Val152Gly)
c.656T>G (p.Val219Gly)
c.542T>G (p.Val181Gly)
c.374T>G (p.Val125Gly)
c.*48T>G (n.*48T>G)
1g.119033281A>GCA341436781WARS2c.713T>C (p.Val238Ala)
c.*79T>C (n.*79T>C)
c.659T>C (p.Val220Ala)
c.431T>C (p.Val144Ala)
c.644T>C (p.Val215Ala)
c.455T>C (p.Val152Ala)
c.656T>C (p.Val219Ala)
c.542T>C (p.Val181Ala)
c.374T>C (p.Val125Ala)
c.*48T>C (n.*48T>C)
1g.119033281A>TCA341436780WARS2c.713T>A (p.Val238Asp)
c.*79T>A (n.*79T>A)
c.659T>A (p.Val220Asp)
c.431T>A (p.Val144Asp)
c.644T>A (p.Val215Asp)
c.455T>A (p.Val152Asp)
c.656T>A (p.Val219Asp)
c.542T>A (p.Val181Asp)
c.374T>A (p.Val125Asp)
c.*48T>A (n.*48T>A)
1g.119033282C>ACA341436782WARS2c.712G>T (p.Val238Phe)
c.*78G>T (n.*78G>T)
c.658G>T (p.Val220Phe)
c.430G>T (p.Val144Phe)
c.643G>T (p.Val215Phe)
c.454G>T (p.Val152Phe)
c.655G>T (p.Val219Phe)
c.541G>T (p.Val181Phe)
c.373G>T (p.Val125Phe)
c.*47G>T (n.*47G>T)
gnomAD v4
1g.119033282C=CA1192128225WARS2c.712G= (p.Val238=)
c.*78G= (n.*78G=)
c.658G= (p.Val220=)
c.430G= (p.Val144=)
c.643G= (p.Val215=)
c.454G= (p.Val152=)
c.655G= (p.Val219=)
c.541G= (p.Val181=)
c.373G= (p.Val125=)
c.*47G= (n.*47G=)
1g.119033282C>GCA341436784WARS2c.712G>C (p.Val238Leu)
c.*78G>C (n.*78G>C)
c.658G>C (p.Val220Leu)
c.430G>C (p.Val144Leu)
c.643G>C (p.Val215Leu)
c.454G>C (p.Val152Leu)
c.655G>C (p.Val219Leu)
c.541G>C (p.Val181Leu)
c.373G>C (p.Val125Leu)
c.*47G>C (n.*47G>C)
1g.119033282C>TCA341436783WARS2c.712G>A (p.Val238Ile)
c.*78G>A (n.*78G>A)
c.658G>A (p.Val220Ile)
c.430G>A (p.Val144Ile)
c.643G>A (p.Val215Ile)
c.454G>A (p.Val152Ile)
c.655G>A (p.Val219Ile)
c.541G>A (p.Val181Ile)
c.373G>A (p.Val125Ile)
c.*47G>A (n.*47G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.119033283G>ACA420192870WARS2c.711C>T (p.Thr237=)
c.*77C>T (n.*77C>T)
c.657C>T (p.Thr219=)
c.429C>T (p.Thr143=)
c.642C>T (p.Thr214=)
c.453C>T (p.Thr151=)
c.654C>T (p.Thr218=)
c.540C>T (p.Thr180=)
c.372C>T (p.Thr124=)
c.*46C>T (n.*46C>T)
dbSNP gnomAD v4
1g.119033283G>CCA420192871WARS2c.711C>G (p.Thr237=)
c.*77C>G (n.*77C>G)
c.657C>G (p.Thr219=)
c.429C>G (p.Thr143=)
c.642C>G (p.Thr214=)
c.453C>G (p.Thr151=)
c.654C>G (p.Thr218=)
c.540C>G (p.Thr180=)
c.372C>G (p.Thr124=)
c.*46C>G (n.*46C>G)
1g.119033283G=CA1192128226WARS2c.711C= (p.Thr237=)
c.*77C= (n.*77C=)
c.657C= (p.Thr219=)
c.429C= (p.Thr143=)
c.642C= (p.Thr214=)
c.453C= (p.Thr151=)
c.654C= (p.Thr218=)
c.540C= (p.Thr180=)
c.372C= (p.Thr124=)
c.*46C= (n.*46C=)
1g.119033283G>TCA420192872WARS2c.711C>A (p.Thr237=)
c.*77C>A (n.*77C>A)
c.657C>A (p.Thr219=)
c.429C>A (p.Thr143=)
c.642C>A (p.Thr214=)
c.453C>A (p.Thr151=)
c.654C>A (p.Thr218=)
c.540C>A (p.Thr180=)
c.372C>A (p.Thr124=)
c.*46C>A (n.*46C>A)
1g.119033284G>ACA341436785WARS2c.710C>T (p.Thr237Ile)
c.*76C>T (n.*76C>T)
c.656C>T (p.Thr219Ile)
c.428C>T (p.Thr143Ile)
c.641C>T (p.Thr214Ile)
c.452C>T (p.Thr151Ile)
c.653C>T (p.Thr218Ile)
c.539C>T (p.Thr180Ile)
c.371C>T (p.Thr124Ile)
c.*45C>T (n.*45C>T)
1g.119033284G>CCA341436786WARS2c.710C>G (p.Thr237Ser)
c.*76C>G (n.*76C>G)
c.656C>G (p.Thr219Ser)
c.428C>G (p.Thr143Ser)
c.641C>G (p.Thr214Ser)
c.452C>G (p.Thr151Ser)
c.653C>G (p.Thr218Ser)
c.539C>G (p.Thr180Ser)
c.371C>G (p.Thr124Ser)
c.*45C>G (n.*45C>G)
1g.119033284G>TCA341436787WARS2c.710C>A (p.Thr237Asn)
c.*76C>A (n.*76C>A)
c.656C>A (p.Thr219Asn)
c.428C>A (p.Thr143Asn)
c.641C>A (p.Thr214Asn)
c.452C>A (p.Thr151Asn)
c.653C>A (p.Thr218Asn)
c.539C>A (p.Thr180Asn)
c.371C>A (p.Thr124Asn)
c.*45C>A (n.*45C>A)
1g.119033285T>ACA341436788WARS2c.709A>T (p.Thr237Ser)
c.*75A>T (n.*75A>T)
c.655A>T (p.Thr219Ser)
c.427A>T (p.Thr143Ser)
c.640A>T (p.Thr214Ser)
c.451A>T (p.Thr151Ser)
c.652A>T (p.Thr218Ser)
c.538A>T (p.Thr180Ser)
c.370A>T (p.Thr124Ser)
c.*44A>T (n.*44A>T)
1g.119033285T>CCA341436789WARS2c.709A>G (p.Thr237Ala)
c.*75A>G (n.*75A>G)
c.655A>G (p.Thr219Ala)
c.427A>G (p.Thr143Ala)
c.640A>G (p.Thr214Ala)
c.451A>G (p.Thr151Ala)
c.652A>G (p.Thr218Ala)
c.538A>G (p.Thr180Ala)
c.370A>G (p.Thr124Ala)
c.*44A>G (n.*44A>G)
1g.119033285T>GCA341436790WARS2c.709A>C (p.Thr237Pro)
c.*75A>C (n.*75A>C)
c.655A>C (p.Thr219Pro)
c.427A>C (p.Thr143Pro)
c.640A>C (p.Thr214Pro)
c.451A>C (p.Thr151Pro)
c.652A>C (p.Thr218Pro)
c.538A>C (p.Thr180Pro)
c.370A>C (p.Thr124Pro)
c.*44A>C (n.*44A>C)
1g.119033286G>ACA420192875WARS2c.708C>T (p.Ala236=)
c.*74C>T (n.*74C>T)
c.654C>T (p.Ala218=)
c.426C>T (p.Ala142=)
c.639C>T (p.Ala213=)
c.450C>T (p.Ala150=)
c.651C>T (p.Ala217=)
c.537C>T (p.Ala179=)
c.369C>T (p.Ala123=)
c.*43C>T (n.*43C>T)
1g.119033286G>CCA420192877WARS2c.708C>G (p.Ala236=)
c.*74C>G (n.*74C>G)
c.654C>G (p.Ala218=)
c.426C>G (p.Ala142=)
c.639C>G (p.Ala213=)
c.450C>G (p.Ala150=)
c.651C>G (p.Ala217=)
c.537C>G (p.Ala179=)
c.369C>G (p.Ala123=)
c.*43C>G (n.*43C>G)
1g.119033286G>TCA420192878WARS2c.708C>A (p.Ala236=)
c.*74C>A (n.*74C>A)
c.654C>A (p.Ala218=)
c.426C>A (p.Ala142=)
c.639C>A (p.Ala213=)
c.450C>A (p.Ala150=)
c.651C>A (p.Ala217=)
c.537C>A (p.Ala179=)
c.369C>A (p.Ala123=)
c.*43C>A (n.*43C>A)
1g.119033287G>ACA341436791WARS2c.707C>T (p.Ala236Val)
c.*73C>T (n.*73C>T)
c.653C>T (p.Ala218Val)
c.425C>T (p.Ala142Val)
c.638C>T (p.Ala213Val)
c.449C>T (p.Ala150Val)
c.650C>T (p.Ala217Val)
c.536C>T (p.Ala179Val)
c.368C>T (p.Ala123Val)
c.*42C>T (n.*42C>T)
gnomAD v3 gnomAD v4
1g.119033287G>CCA341436792WARS2c.707C>G (p.Ala236Gly)
c.*73C>G (n.*73C>G)
c.653C>G (p.Ala218Gly)
c.425C>G (p.Ala142Gly)
c.638C>G (p.Ala213Gly)
c.449C>G (p.Ala150Gly)
c.650C>G (p.Ala217Gly)
c.536C>G (p.Ala179Gly)
c.368C>G (p.Ala123Gly)
c.*42C>G (n.*42C>G)
1g.119033287G=CA1192128227WARS2c.707C= (p.Ala236=)
c.*73C= (n.*73C=)
c.653C= (p.Ala218=)
c.425C= (p.Ala142=)
c.638C= (p.Ala213=)
c.449C= (p.Ala150=)
c.650C= (p.Ala217=)
c.536C= (p.Ala179=)
c.368C= (p.Ala123=)
c.*42C= (n.*42C=)
1g.119033287G>TCA1035230WARS2c.707C>A (p.Ala236Asp)
c.*73C>A (n.*73C>A)
c.653C>A (p.Ala218Asp)
c.425C>A (p.Ala142Asp)
c.638C>A (p.Ala213Asp)
c.449C>A (p.Ala150Asp)
c.650C>A (p.Ala217Asp)
c.536C>A (p.Ala179Asp)
c.368C>A (p.Ala123Asp)
c.*42C>A (n.*42C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.119033288C>ACA341436793WARS2c.706G>T (p.Ala236Ser)
c.*72G>T (n.*72G>T)
c.652G>T (p.Ala218Ser)
c.424G>T (p.Ala142Ser)
c.637G>T (p.Ala213Ser)
c.448G>T (p.Ala150Ser)
c.649G>T (p.Ala217Ser)
c.535G>T (p.Ala179Ser)
c.367G>T (p.Ala123Ser)
c.*41G>T (n.*41G>T)
COSMIC
1g.119033288C>GCA341436794WARS2c.706G>C (p.Ala236Pro)
c.*72G>C (n.*72G>C)
c.652G>C (p.Ala218Pro)
c.424G>C (p.Ala142Pro)
c.637G>C (p.Ala213Pro)
c.448G>C (p.Ala150Pro)
c.649G>C (p.Ala217Pro)
c.535G>C (p.Ala179Pro)
c.367G>C (p.Ala123Pro)
c.*41G>C (n.*41G>C)
1g.119033288C>TCA341436795WARS2c.706G>A (p.Ala236Thr)
c.*72G>A (n.*72G>A)
c.652G>A (p.Ala218Thr)
c.424G>A (p.Ala142Thr)
c.637G>A (p.Ala213Thr)
c.448G>A (p.Ala150Thr)
c.649G>A (p.Ala217Thr)
c.535G>A (p.Ala179Thr)
c.367G>A (p.Ala123Thr)
c.*41G>A (n.*41G>A)
1g.119033289C>ACA420192881WARS2c.705G>T (p.Leu235=)
c.*71G>T (n.*71G>T)
c.651G>T (p.Leu217=)
c.423G>T (p.Leu141=)
c.636G>T (p.Leu212=)
c.447G>T (p.Leu149=)
c.648G>T (p.Leu216=)
c.534G>T (p.Leu178=)
c.366G>T (p.Leu122=)
c.*40G>T (n.*40G>T)
1g.119033289C>GCA420192882WARS2c.705G>C (p.Leu235=)
c.*71G>C (n.*71G>C)
c.651G>C (p.Leu217=)
c.423G>C (p.Leu141=)
c.636G>C (p.Leu212=)
c.447G>C (p.Leu149=)
c.648G>C (p.Leu216=)
c.534G>C (p.Leu178=)
c.366G>C (p.Leu122=)
c.*40G>C (n.*40G>C)
1g.119033289C>TCA420192883WARS2c.705G>A (p.Leu235=)
c.*71G>A (n.*71G>A)
c.651G>A (p.Leu217=)
c.423G>A (p.Leu141=)
c.636G>A (p.Leu212=)
c.447G>A (p.Leu149=)
c.648G>A (p.Leu216=)
c.534G>A (p.Leu178=)
c.366G>A (p.Leu122=)
c.*40G>A (n.*40G>A)
gnomAD v4
1g.119033290A=CA1192128228WARS2c.704T= (p.Leu235=)
c.*70T= (n.*70T=)
c.650T= (p.Leu217=)
c.422T= (p.Leu141=)
c.635T= (p.Leu212=)
c.446T= (p.Leu149=)
c.647T= (p.Leu216=)
c.533T= (p.Leu178=)
c.365T= (p.Leu122=)
c.*39T= (n.*39T=)
1g.119033290A>CCA341436796WARS2c.704T>G (p.Leu235Arg)
c.*70T>G (n.*70T>G)
c.650T>G (p.Leu217Arg)
c.422T>G (p.Leu141Arg)
c.635T>G (p.Leu212Arg)
c.446T>G (p.Leu149Arg)
c.647T>G (p.Leu216Arg)
c.533T>G (p.Leu178Arg)
c.365T>G (p.Leu122Arg)
c.*39T>G (n.*39T>G)
1g.119033290A>GCA341436798WARS2c.704T>C (p.Leu235Pro)
c.*70T>C (n.*70T>C)
c.650T>C (p.Leu217Pro)
c.422T>C (p.Leu141Pro)
c.635T>C (p.Leu212Pro)
c.446T>C (p.Leu149Pro)
c.647T>C (p.Leu216Pro)
c.533T>C (p.Leu178Pro)
c.365T>C (p.Leu122Pro)
c.*39T>C (n.*39T>C)
dbSNP
1g.119033290A>TCA341436797WARS2c.704T>A (p.Leu235Gln)
c.*70T>A (n.*70T>A)
c.650T>A (p.Leu217Gln)
c.422T>A (p.Leu141Gln)
c.635T>A (p.Leu212Gln)
c.446T>A (p.Leu149Gln)
c.647T>A (p.Leu216Gln)
c.533T>A (p.Leu178Gln)
c.365T>A (p.Leu122Gln)
c.*39T>A (n.*39T>A)
ClinVar
1g.119033291G>ACA420192884WARS2c.703C>T (p.Leu235=)
c.*69C>T (n.*69C>T)
c.649C>T (p.Leu217=)
c.421C>T (p.Leu141=)
c.634C>T (p.Leu212=)
c.445C>T (p.Leu149=)
c.646C>T (p.Leu216=)
c.532C>T (p.Leu178=)
c.364C>T (p.Leu122=)
c.*38C>T (n.*38C>T)
1g.119033291G>CCA341436799WARS2c.703C>G (p.Leu235Val)
c.*69C>G (n.*69C>G)
c.649C>G (p.Leu217Val)
c.421C>G (p.Leu141Val)
c.634C>G (p.Leu212Val)
c.445C>G (p.Leu149Val)
c.646C>G (p.Leu216Val)
c.532C>G (p.Leu178Val)
c.364C>G (p.Leu122Val)
c.*38C>G (n.*38C>G)
1g.119033291G>TCA341436800WARS2c.703C>A (p.Leu235Met)
c.*69C>A (n.*69C>A)
c.649C>A (p.Leu217Met)
c.421C>A (p.Leu141Met)
c.634C>A (p.Leu212Met)
c.445C>A (p.Leu149Met)
c.646C>A (p.Leu216Met)
c.532C>A (p.Leu178Met)
c.364C>A (p.Leu122Met)
c.*38C>A (n.*38C>A)
gnomAD v4
1g.119033292T>ACA341436801WARS2c.702A>T (p.Lys234Asn)
c.*68A>T (n.*68A>T)
c.648A>T (p.Lys216Asn)
c.420A>T (p.Lys140Asn)
c.633A>T (p.Lys211Asn)
c.444A>T (p.Lys148Asn)
c.645A>T (p.Lys215Asn)
c.531A>T (p.Lys177Asn)
c.363A>T (p.Lys121Asn)
c.*37A>T (n.*37A>T)
1g.119033292T>CCA420192886WARS2c.702A>G (p.Lys234=)
c.*68A>G (n.*68A>G)
c.648A>G (p.Lys216=)
c.420A>G (p.Lys140=)
c.633A>G (p.Lys211=)
c.444A>G (p.Lys148=)
c.645A>G (p.Lys215=)
c.531A>G (p.Lys177=)
c.363A>G (p.Lys121=)
c.*37A>G (n.*37A>G)
1g.119033292T>GCA341436802WARS2c.702A>C (p.Lys234Asn)
c.*68A>C (n.*68A>C)
c.648A>C (p.Lys216Asn)
c.420A>C (p.Lys140Asn)
c.633A>C (p.Lys211Asn)
c.444A>C (p.Lys148Asn)
c.645A>C (p.Lys215Asn)
c.531A>C (p.Lys177Asn)
c.363A>C (p.Lys121Asn)
c.*37A>C (n.*37A>C)
1g.119033293T>ACA341436803WARS2c.701A>T (p.Lys234Ile)
c.*67A>T (n.*67A>T)
c.647A>T (p.Lys216Ile)
c.419A>T (p.Lys140Ile)
c.632A>T (p.Lys211Ile)
c.443A>T (p.Lys148Ile)
c.644A>T (p.Lys215Ile)
c.530A>T (p.Lys177Ile)
c.362A>T (p.Lys121Ile)
c.*36A>T (n.*36A>T)
1g.119033293T>CCA341436804WARS2c.701A>G (p.Lys234Arg)
c.*67A>G (n.*67A>G)
c.647A>G (p.Lys216Arg)
c.419A>G (p.Lys140Arg)
c.632A>G (p.Lys211Arg)
c.443A>G (p.Lys148Arg)
c.644A>G (p.Lys215Arg)
c.530A>G (p.Lys177Arg)
c.362A>G (p.Lys121Arg)
c.*36A>G (n.*36A>G)
1g.119033293T>GCA341436805WARS2c.701A>C (p.Lys234Thr)
c.*67A>C (n.*67A>C)
c.647A>C (p.Lys216Thr)
c.419A>C (p.Lys140Thr)
c.632A>C (p.Lys211Thr)
c.443A>C (p.Lys148Thr)
c.644A>C (p.Lys215Thr)
c.530A>C (p.Lys177Thr)
c.362A>C (p.Lys121Thr)
c.*36A>C (n.*36A>C)
1g.119033294T>ACA341436806WARS2c.700A>T (p.Lys234Ter)
c.*66A>T (n.*66A>T)
c.646A>T (p.Lys216Ter)
c.418A>T (p.Lys140Ter)
c.631A>T (p.Lys211Ter)
c.442A>T (p.Lys148Ter)
c.643A>T (p.Lys215Ter)
c.529A>T (p.Lys177Ter)
c.361A>T (p.Lys121Ter)
c.*35A>T (n.*35A>T)
1g.119033294T>CCA341436807WARS2c.700A>G (p.Lys234Glu)
c.*66A>G (n.*66A>G)
c.646A>G (p.Lys216Glu)
c.418A>G (p.Lys140Glu)
c.631A>G (p.Lys211Glu)
c.442A>G (p.Lys148Glu)
c.643A>G (p.Lys215Glu)
c.529A>G (p.Lys177Glu)
c.361A>G (p.Lys121Glu)
c.*35A>G (n.*35A>G)
1g.119033294T>GCA341436808WARS2c.700A>C (p.Lys234Gln)
c.*66A>C (n.*66A>C)
c.646A>C (p.Lys216Gln)
c.418A>C (p.Lys140Gln)
c.631A>C (p.Lys211Gln)
c.442A>C (p.Lys148Gln)
c.643A>C (p.Lys215Gln)
c.529A>C (p.Lys177Gln)
c.361A>C (p.Lys121Gln)
c.*35A>C (n.*35A>C)
1g.119033295G>ACA420192889WARS2c.699C>T (p.Asp233=)
c.*65C>T (n.*65C>T)
c.645C>T (p.Asp215=)
c.417C>T (p.Asp139=)
c.630C>T (p.Asp210=)
c.441C>T (p.Asp147=)
c.642C>T (p.Asp214=)
c.528C>T (p.Asp176=)
c.360C>T (p.Asp120=)
c.*34C>T (n.*34C>T)
1g.119033295G>CCA341436810WARS2c.699C>G (p.Asp233Glu)
c.*65C>G (n.*65C>G)
c.645C>G (p.Asp215Glu)
c.417C>G (p.Asp139Glu)
c.630C>G (p.Asp210Glu)
c.441C>G (p.Asp147Glu)
c.642C>G (p.Asp214Glu)
c.528C>G (p.Asp176Glu)
c.360C>G (p.Asp120Glu)
c.*34C>G (n.*34C>G)
1g.119033295G>TCA341436809WARS2c.699C>A (p.Asp233Glu)
c.*65C>A (n.*65C>A)
c.645C>A (p.Asp215Glu)
c.417C>A (p.Asp139Glu)
c.630C>A (p.Asp210Glu)
c.441C>A (p.Asp147Glu)
c.642C>A (p.Asp214Glu)
c.528C>A (p.Asp176Glu)
c.360C>A (p.Asp120Glu)
c.*34C>A (n.*34C>A)
1g.119033296T>ACA341436811WARS2c.698A>T (p.Asp233Val)
c.*64A>T (n.*64A>T)
c.644A>T (p.Asp215Val)
c.416A>T (p.Asp139Val)
c.629A>T (p.Asp210Val)
c.440A>T (p.Asp147Val)
c.641A>T (p.Asp214Val)
c.527A>T (p.Asp176Val)
c.359A>T (p.Asp120Val)
c.*33A>T (n.*33A>T)
1g.119033296T>CCA341436812WARS2c.698A>G (p.Asp233Gly)
c.*64A>G (n.*64A>G)
c.644A>G (p.Asp215Gly)
c.416A>G (p.Asp139Gly)
c.629A>G (p.Asp210Gly)
c.440A>G (p.Asp147Gly)
c.641A>G (p.Asp214Gly)
c.527A>G (p.Asp176Gly)
c.359A>G (p.Asp120Gly)
c.*33A>G (n.*33A>G)
1g.119033296T>GCA341436813WARS2c.698A>C (p.Asp233Ala)
c.*64A>C (n.*64A>C)
c.644A>C (p.Asp215Ala)
c.416A>C (p.Asp139Ala)
c.629A>C (p.Asp210Ala)
c.440A>C (p.Asp147Ala)
c.641A>C (p.Asp214Ala)
c.527A>C (p.Asp176Ala)
c.359A>C (p.Asp120Ala)
c.*33A>C (n.*33A>C)
1g.119033297C>ACA341436814WARS2c.697G>T (p.Asp233Tyr)
c.*63G>T (n.*63G>T)
n.621G>T
c.643G>T (p.Asp215Tyr)
c.415G>T (p.Asp139Tyr)
c.628G>T (p.Asp210Tyr)
c.439G>T (p.Asp147Tyr)
c.640G>T (p.Asp214Tyr)
c.526G>T (p.Asp176Tyr)
c.358G>T (p.Asp120Tyr)
c.*32G>T (n.*32G>T)
1g.119033297C>GCA341436815WARS2c.697G>C (p.Asp233His)
c.*63G>C (n.*63G>C)
n.621G>C
c.643G>C (p.Asp215His)
c.415G>C (p.Asp139His)
c.628G>C (p.Asp210His)
c.439G>C (p.Asp147His)
c.640G>C (p.Asp214His)
c.526G>C (p.Asp176His)
c.358G>C (p.Asp120His)
c.*32G>C (n.*32G>C)
1g.119033297C>TCA341436816WARS2c.697G>A (p.Asp233Asn)
c.*63G>A (n.*63G>A)
n.621G>A
c.643G>A (p.Asp215Asn)
c.415G>A (p.Asp139Asn)
c.628G>A (p.Asp210Asn)
c.439G>A (p.Asp147Asn)
c.640G>A (p.Asp214Asn)
c.526G>A (p.Asp176Asn)
c.358G>A (p.Asp120Asn)
c.*32G>A (n.*32G>A)
1g.119033298A>CCA420192892WARS2c.696T>G (p.Pro232=)
c.*62T>G (n.*62T>G)
n.620T>G
c.642T>G (p.Pro214=)
c.414T>G (p.Pro138=)
c.627T>G (p.Pro209=)
c.438T>G (p.Pro146=)
c.639T>G (p.Pro213=)
c.525T>G (p.Pro175=)
c.357T>G (p.Pro119=)
c.*31T>G (n.*31T>G)
1g.119033298A>GCA420192893WARS2c.696T>C (p.Pro232=)
c.*62T>C (n.*62T>C)
n.620T>C
c.642T>C (p.Pro214=)
c.414T>C (p.Pro138=)
c.627T>C (p.Pro209=)
c.438T>C (p.Pro146=)
c.639T>C (p.Pro213=)
c.525T>C (p.Pro175=)
c.357T>C (p.Pro119=)
c.*31T>C (n.*31T>C)
1g.119033298A>TCA420192894WARS2c.696T>A (p.Pro232=)
c.*62T>A (n.*62T>A)
n.620T>A
c.642T>A (p.Pro214=)
c.414T>A (p.Pro138=)
c.627T>A (p.Pro209=)
c.438T>A (p.Pro146=)
c.639T>A (p.Pro213=)
c.525T>A (p.Pro175=)
c.357T>A (p.Pro119=)
c.*31T>A (n.*31T>A)
1g.119033299G>ACA341436819WARS2c.695C>T (p.Pro232Leu)
c.*61C>T (n.*61C>T)
n.619C>T
c.641C>T (p.Pro214Leu)
c.413C>T (p.Pro138Leu)
c.626C>T (p.Pro209Leu)
c.437C>T (p.Pro146Leu)
c.638C>T (p.Pro213Leu)
c.524C>T (p.Pro175Leu)
c.356C>T (p.Pro119Leu)
c.*30C>T (n.*30C>T)
1g.119033299G>CCA341436817WARS2c.695C>G (p.Pro232Arg)
c.*61C>G (n.*61C>G)
n.619C>G
c.641C>G (p.Pro214Arg)
c.413C>G (p.Pro138Arg)
c.626C>G (p.Pro209Arg)
c.437C>G (p.Pro146Arg)
c.638C>G (p.Pro213Arg)
c.524C>G (p.Pro175Arg)
c.356C>G (p.Pro119Arg)
c.*30C>G (n.*30C>G)
gnomAD v4
1g.119033299G>TCA341436818WARS2c.695C>A (p.Pro232His)
c.*61C>A (n.*61C>A)
n.619C>A
c.641C>A (p.Pro214His)
c.413C>A (p.Pro138His)
c.626C>A (p.Pro209His)
c.437C>A (p.Pro146His)
c.638C>A (p.Pro213His)
c.524C>A (p.Pro175His)
c.356C>A (p.Pro119His)
c.*30C>A (n.*30C>A)
1g.119033300G>ACA341436820WARS2c.694C>T (p.Pro232Ser)
c.*60C>T (n.*60C>T)
n.618C>T
c.640C>T (p.Pro214Ser)
c.412C>T (p.Pro138Ser)
c.625C>T (p.Pro209Ser)
c.436C>T (p.Pro146Ser)
c.637C>T (p.Pro213Ser)
c.523C>T (p.Pro175Ser)
c.355C>T (p.Pro119Ser)
c.*29C>T (n.*29C>T)
1g.119033300G>CCA341436821WARS2c.694C>G (p.Pro232Ala)
c.*60C>G (n.*60C>G)
n.618C>G
c.640C>G (p.Pro214Ala)
c.412C>G (p.Pro138Ala)
c.625C>G (p.Pro209Ala)
c.436C>G (p.Pro146Ala)
c.637C>G (p.Pro213Ala)
c.523C>G (p.Pro175Ala)
c.355C>G (p.Pro119Ala)
c.*29C>G (n.*29C>G)
gnomAD v4
1g.119033300G=CA1192128229WARS2c.694C= (p.Pro232=)
c.*60C= (n.*60C=)
n.618C=
c.640C= (p.Pro214=)
c.412C= (p.Pro138=)
c.625C= (p.Pro209=)
c.436C= (p.Pro146=)
c.637C= (p.Pro213=)
c.523C= (p.Pro175=)
c.355C= (p.Pro119=)
c.*29C= (n.*29C=)
1g.119033300G>TCA1035231WARS2c.694C>A (p.Pro232Thr)
c.*60C>A (n.*60C>A)
n.618C>A
c.640C>A (p.Pro214Thr)
c.412C>A (p.Pro138Thr)
c.625C>A (p.Pro209Thr)
c.436C>A (p.Pro146Thr)
c.637C>A (p.Pro213Thr)
c.523C>A (p.Pro175Thr)
c.355C>A (p.Pro119Thr)
c.*29C>A (n.*29C>A)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
1g.119033301G>ACA420192896WARS2c.693C>T (p.Asp231=)
c.*59C>T (n.*59C>T)
n.617C>T
c.639C>T (p.Asp213=)
c.411C>T (p.Asp137=)
c.624C>T (p.Asp208=)
c.435C>T (p.Asp145=)
c.636C>T (p.Asp212=)
c.522C>T (p.Asp174=)
c.354C>T (p.Asp118=)
c.*28C>T (n.*28C>T)
1g.119033301G>CCA341436822WARS2c.693C>G (p.Asp231Glu)
c.*59C>G (n.*59C>G)
n.617C>G
c.639C>G (p.Asp213Glu)
c.411C>G (p.Asp137Glu)
c.624C>G (p.Asp208Glu)
c.435C>G (p.Asp145Glu)
c.636C>G (p.Asp212Glu)
c.522C>G (p.Asp174Glu)
c.354C>G (p.Asp118Glu)
c.*28C>G (n.*28C>G)
1g.119033301G=CA1192128230WARS2c.693C= (p.Asp231=)
c.*59C= (n.*59C=)
n.617C=
c.639C= (p.Asp213=)
c.411C= (p.Asp137=)
c.624C= (p.Asp208=)
c.435C= (p.Asp145=)
c.636C= (p.Asp212=)
c.522C= (p.Asp174=)
c.354C= (p.Asp118=)
c.*28C= (n.*28C=)
1g.119033301G>TCA341436823WARS2c.693C>A (p.Asp231Glu)
c.*59C>A (n.*59C>A)
n.617C>A
c.639C>A (p.Asp213Glu)
c.411C>A (p.Asp137Glu)
c.624C>A (p.Asp208Glu)
c.435C>A (p.Asp145Glu)
c.636C>A (p.Asp212Glu)
c.522C>A (p.Asp174Glu)
c.354C>A (p.Asp118Glu)
c.*28C>A (n.*28C>A)
dbSNP gnomAD v2
1g.119033302T>ACA341436824WARS2c.692A>T (p.Asp231Val)
c.*58A>T (n.*58A>T)
n.616A>T
c.638A>T (p.Asp213Val)
c.410A>T (p.Asp137Val)
c.623A>T (p.Asp208Val)
c.434A>T (p.Asp145Val)
c.635A>T (p.Asp212Val)
c.521A>T (p.Asp174Val)
c.353A>T (p.Asp118Val)
c.*27A>T (n.*27A>T)
1g.119033302T>CCA341436826WARS2c.692A>G (p.Asp231Gly)
c.*58A>G (n.*58A>G)
n.616A>G
c.638A>G (p.Asp213Gly)
c.410A>G (p.Asp137Gly)
c.623A>G (p.Asp208Gly)
c.434A>G (p.Asp145Gly)
c.635A>G (p.Asp212Gly)
c.521A>G (p.Asp174Gly)
c.353A>G (p.Asp118Gly)
c.*27A>G (n.*27A>G)
1g.119033302T>GCA341436825WARS2c.692A>C (p.Asp231Ala)
c.*58A>C (n.*58A>C)
n.616A>C
c.638A>C (p.Asp213Ala)
c.410A>C (p.Asp137Ala)
c.623A>C (p.Asp208Ala)
c.434A>C (p.Asp145Ala)
c.635A>C (p.Asp212Ala)
c.521A>C (p.Asp174Ala)
c.353A>C (p.Asp118Ala)
c.*27A>C (n.*27A>C)
1g.119033303C>ACA341436827WARS2c.691G>T (p.Asp231Tyr)
c.*57G>T (n.*57G>T)
n.615G>T
c.637G>T (p.Asp213Tyr)
c.409G>T (p.Asp137Tyr)
c.622G>T (p.Asp208Tyr)
c.433G>T (p.Asp145Tyr)
c.634G>T (p.Asp212Tyr)
c.520G>T (p.Asp174Tyr)
c.352G>T (p.Asp118Tyr)
c.*26G>T (n.*26G>T)
1g.119033303C>GCA341436828WARS2c.691G>C (p.Asp231His)
c.*57G>C (n.*57G>C)
n.615G>C
c.637G>C (p.Asp213His)
c.409G>C (p.Asp137His)
c.622G>C (p.Asp208His)
c.433G>C (p.Asp145His)
c.634G>C (p.Asp212His)
c.520G>C (p.Asp174His)
c.352G>C (p.Asp118His)
c.*26G>C (n.*26G>C)
1g.119033303C>TCA341436829WARS2c.691G>A (p.Asp231Asn)
c.*57G>A (n.*57G>A)
n.615G>A
c.637G>A (p.Asp213Asn)
c.409G>A (p.Asp137Asn)
c.622G>A (p.Asp208Asn)
c.433G>A (p.Asp145Asn)
c.634G>A (p.Asp212Asn)
c.520G>A (p.Asp174Asn)
c.352G>A (p.Asp118Asn)
c.*26G>A (n.*26G>A)
1g.119033304T>ACA420192897WARS2c.690A>T (p.Ser230=)
c.*56A>T (n.*56A>T)
n.614A>T
c.636A>T (p.Ser212=)
c.408A>T (p.Ser136=)
c.621A>T (p.Ser207=)
c.432A>T (p.Ser144=)
c.633A>T (p.Ser211=)
c.519A>T (p.Ser173=)
c.351A>T (p.Ser117=)
c.*25A>T (n.*25A>T)
1g.119033304T>CCA1035232WARS2c.690A>G (p.Ser230=)
c.*56A>G (n.*56A>G)
n.614A>G
c.636A>G (p.Ser212=)
c.408A>G (p.Ser136=)
c.621A>G (p.Ser207=)
c.432A>G (p.Ser144=)
c.633A>G (p.Ser211=)
c.519A>G (p.Ser173=)
c.351A>G (p.Ser117=)
c.*25A>G (n.*25A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.119033304T>GCA420192898WARS2c.690A>C (p.Ser230=)
c.*56A>C (n.*56A>C)
n.614A>C
c.636A>C (p.Ser212=)
c.408A>C (p.Ser136=)
c.621A>C (p.Ser207=)
c.432A>C (p.Ser144=)
c.633A>C (p.Ser211=)
c.519A>C (p.Ser173=)
c.351A>C (p.Ser117=)
c.*25A>C (n.*25A>C)
1g.119033304T=CA1192128231WARS2c.690A= (p.Ser230=)
c.*56A= (n.*56A=)
n.614A=
c.636A= (p.Ser212=)
c.408A= (p.Ser136=)
c.621A= (p.Ser207=)
c.432A= (p.Ser144=)
c.633A= (p.Ser211=)
c.519A= (p.Ser173=)
c.351A= (p.Ser117=)
c.*25A= (n.*25A=)
1g.119033305G>ACA341436830WARS2c.689C>T (p.Ser230Leu)
c.*55C>T (n.*55C>T)
n.613C>T
c.635C>T (p.Ser212Leu)
c.407C>T (p.Ser136Leu)
c.620C>T (p.Ser207Leu)
c.431C>T (p.Ser144Leu)
c.632C>T (p.Ser211Leu)
c.518C>T (p.Ser173Leu)
c.350C>T (p.Ser117Leu)
c.*24C>T (n.*24C>T)
1g.119033305G>CCA341436831WARS2c.689C>G (p.Ser230Ter)
c.*55C>G (n.*55C>G)
n.613C>G
c.635C>G (p.Ser212Ter)
c.407C>G (p.Ser136Ter)
c.620C>G (p.Ser207Ter)
c.431C>G (p.Ser144Ter)
c.632C>G (p.Ser211Ter)
c.518C>G (p.Ser173Ter)
c.350C>G (p.Ser117Ter)
c.*24C>G (n.*24C>G)
1g.119033305G>TCA341436832WARS2c.689C>A (p.Ser230Ter)
c.*55C>A (n.*55C>A)
n.613C>A
c.635C>A (p.Ser212Ter)
c.407C>A (p.Ser136Ter)
c.620C>A (p.Ser207Ter)
c.431C>A (p.Ser144Ter)
c.632C>A (p.Ser211Ter)
c.518C>A (p.Ser173Ter)
c.350C>A (p.Ser117Ter)
c.*24C>A (n.*24C>A)
1g.119033306A>CCA341436833WARS2c.688T>G (p.Ser230Ala)
c.*54T>G (n.*54T>G)
n.612T>G
c.634T>G (p.Ser212Ala)
c.406T>G (p.Ser136Ala)
c.619T>G (p.Ser207Ala)
c.430T>G (p.Ser144Ala)
c.631T>G (p.Ser211Ala)
c.517T>G (p.Ser173Ala)
c.349T>G (p.Ser117Ala)
c.*23T>G (n.*23T>G)
1g.119033306A>GCA341436834WARS2c.688T>C (p.Ser230Pro)
c.*54T>C (n.*54T>C)
n.612T>C
c.634T>C (p.Ser212Pro)
c.406T>C (p.Ser136Pro)
c.619T>C (p.Ser207Pro)
c.430T>C (p.Ser144Pro)
c.631T>C (p.Ser211Pro)
c.517T>C (p.Ser173Pro)
c.349T>C (p.Ser117Pro)
c.*23T>C (n.*23T>C)
1g.119033306A>TCA341436835WARS2c.688T>A (p.Ser230Thr)
c.*54T>A (n.*54T>A)
n.612T>A
c.634T>A (p.Ser212Thr)
c.406T>A (p.Ser136Thr)
c.619T>A (p.Ser207Thr)
c.430T>A (p.Ser144Thr)
c.631T>A (p.Ser211Thr)
c.517T>A (p.Ser173Thr)
c.349T>A (p.Ser117Thr)
c.*23T>A (n.*23T>A)
1g.119033307T>ACA341436836WARS2c.687A>T (p.Lys229Asn)
c.*53A>T (n.*53A>T)
n.611A>T
c.633A>T (p.Lys211Asn)
c.405A>T (p.Lys135Asn)
c.618A>T (p.Lys206Asn)
c.429A>T (p.Lys143Asn)
c.630A>T (p.Lys210Asn)
c.516A>T (p.Lys172Asn)
c.348A>T (p.Lys116Asn)
c.*22A>T (n.*22A>T)
1g.119033307T>CCA420192899WARS2c.687A>G (p.Lys229=)
c.*53A>G (n.*53A>G)
n.611A>G
c.633A>G (p.Lys211=)
c.405A>G (p.Lys135=)
c.618A>G (p.Lys206=)
c.429A>G (p.Lys143=)
c.630A>G (p.Lys210=)
c.516A>G (p.Lys172=)
c.348A>G (p.Lys116=)
c.*22A>G (n.*22A>G)
gnomAD v4
1g.119033307T>GCA341436837WARS2c.687A>C (p.Lys229Asn)
c.*53A>C (n.*53A>C)
n.611A>C
c.633A>C (p.Lys211Asn)
c.405A>C (p.Lys135Asn)
c.618A>C (p.Lys206Asn)
c.429A>C (p.Lys143Asn)
c.630A>C (p.Lys210Asn)
c.516A>C (p.Lys172Asn)
c.348A>C (p.Lys116Asn)
c.*22A>C (n.*22A>C)
dbSNP gnomAD v2 gnomAD v4
1g.119033307T=CA1192128232WARS2c.687A= (p.Lys229=)
c.*53A= (n.*53A=)
n.611A=
c.633A= (p.Lys211=)
c.405A= (p.Lys135=)
c.618A= (p.Lys206=)
c.429A= (p.Lys143=)
c.630A= (p.Lys210=)
c.516A= (p.Lys172=)
c.348A= (p.Lys116=)
c.*22A= (n.*22A=)
1g.119033310_119033318delCA2580060883WARS2c.679_687del (p.Met227_Lys229del)
c.*45_*53del (n.*45_*53del)
n.603_611del
c.625_633del (p.Met209_Lys211del)
c.397_405del (p.Met133_Lys135del)
c.610_618del (p.Met204_Lys206del)
c.421_429del (p.Met141_Lys143del)
c.622_630del (p.Met208_Lys210del)
c.508_516del (p.Met170_Lys172del)
c.340_348del (p.Met114_Lys116del)
c.*14_*22del (n.*14_*22del)
ClinVar gnomAD v4
1g.119033308T>ACA341436840WARS2c.686A>T (p.Lys229Ile)
c.*52A>T (n.*52A>T)
n.610A>T
c.632A>T (p.Lys211Ile)
c.404A>T (p.Lys135Ile)
c.617A>T (p.Lys206Ile)
c.428A>T (p.Lys143Ile)
c.629A>T (p.Lys210Ile)
c.515A>T (p.Lys172Ile)
c.347A>T (p.Lys116Ile)
c.*21A>T (n.*21A>T)
1g.119033308T>CCA341436839WARS2c.686A>G (p.Lys229Arg)
c.*52A>G (n.*52A>G)
n.610A>G
c.632A>G (p.Lys211Arg)
c.404A>G (p.Lys135Arg)
c.617A>G (p.Lys206Arg)
c.428A>G (p.Lys143Arg)
c.629A>G (p.Lys210Arg)
c.515A>G (p.Lys172Arg)
c.347A>G (p.Lys116Arg)
c.*21A>G (n.*21A>G)
1g.119033308T>GCA341436838WARS2c.686A>C (p.Lys229Thr)
c.*52A>C (n.*52A>C)
n.610A>C
c.632A>C (p.Lys211Thr)
c.404A>C (p.Lys135Thr)
c.617A>C (p.Lys206Thr)
c.428A>C (p.Lys143Thr)
c.629A>C (p.Lys210Thr)
c.515A>C (p.Lys172Thr)
c.347A>C (p.Lys116Thr)
c.*21A>C (n.*21A>C)
1g.119033309T>ACA341436842WARS2c.685A>T (p.Lys229Ter)
c.*51A>T (n.*51A>T)
n.609A>T
c.631A>T (p.Lys211Ter)
c.403A>T (p.Lys135Ter)
c.616A>T (p.Lys206Ter)
c.427A>T (p.Lys143Ter)
c.628A>T (p.Lys210Ter)
c.514A>T (p.Lys172Ter)
c.346A>T (p.Lys116Ter)
c.*20A>T (n.*20A>T)
1g.119033309T>CCA341436841WARS2c.685A>G (p.Lys229Glu)
c.*51A>G (n.*51A>G)
n.609A>G
c.631A>G (p.Lys211Glu)
c.403A>G (p.Lys135Glu)
c.616A>G (p.Lys206Glu)
c.427A>G (p.Lys143Glu)
c.628A>G (p.Lys210Glu)
c.514A>G (p.Lys172Glu)
c.346A>G (p.Lys116Glu)
c.*20A>G (n.*20A>G)
1g.119033309T>GCA341436843WARS2c.685A>C (p.Lys229Gln)
c.*51A>C (n.*51A>C)
n.609A>C
c.631A>C (p.Lys211Gln)
c.403A>C (p.Lys135Gln)
c.616A>C (p.Lys206Gln)
c.427A>C (p.Lys143Gln)
c.628A>C (p.Lys210Gln)
c.514A>C (p.Lys172Gln)
c.346A>C (p.Lys116Gln)
c.*20A>C (n.*20A>C)
1g.119033310C>ACA420192900WARS2c.684G>T (p.Ser228=)
c.*50G>T (n.*50G>T)
n.608G>T
c.630G>T (p.Ser210=)
c.402G>T (p.Ser134=)
c.615G>T (p.Ser205=)
c.426G>T (p.Ser142=)
c.627G>T (p.Ser209=)
c.513G>T (p.Ser171=)
c.345G>T (p.Ser115=)
c.*19G>T (n.*19G>T)
1g.119033310C=CA1141045839WARS2c.684G= (p.Ser228=)
c.*50G= (n.*50G=)
n.608G=
c.630G= (p.Ser210=)
c.402G= (p.Ser134=)
c.615G= (p.Ser205=)
c.426G= (p.Ser142=)
c.627G= (p.Ser209=)
c.513G= (p.Ser171=)
c.345G= (p.Ser115=)
c.*19G= (n.*19G=)
1g.119033310C>GCA420192901WARS2c.684G>C (p.Ser228=)
c.*50G>C (n.*50G>C)
n.608G>C
c.630G>C (p.Ser210=)
c.402G>C (p.Ser134=)
c.615G>C (p.Ser205=)
c.426G>C (p.Ser142=)
c.627G>C (p.Ser209=)
c.513G>C (p.Ser171=)
c.345G>C (p.Ser115=)
c.*19G>C (n.*19G>C)
1g.119033310C>TCA1035233WARS2c.684G>A (p.Ser228=)
c.*50G>A (n.*50G>A)
n.608G>A
c.630G>A (p.Ser210=)
c.402G>A (p.Ser134=)
c.615G>A (p.Ser205=)
c.426G>A (p.Ser142=)
c.627G>A (p.Ser209=)
c.513G>A (p.Ser171=)
c.345G>A (p.Ser115=)
c.*19G>A (n.*19G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.119033311G>ACA341436846WARS2c.683C>T (p.Ser228Leu)
c.*49C>T (n.*49C>T)
n.607C>T
c.629C>T (p.Ser210Leu)
c.401C>T (p.Ser134Leu)
c.614C>T (p.Ser205Leu)
c.425C>T (p.Ser142Leu)
c.626C>T (p.Ser209Leu)
c.512C>T (p.Ser171Leu)
c.344C>T (p.Ser115Leu)
c.*18C>T (n.*18C>T)
1g.119033311G>CCA341436844WARS2c.683C>G (p.Ser228Trp)
c.*49C>G (n.*49C>G)
n.607C>G
c.629C>G (p.Ser210Trp)
c.401C>G (p.Ser134Trp)
c.614C>G (p.Ser205Trp)
c.425C>G (p.Ser142Trp)
c.626C>G (p.Ser209Trp)
c.512C>G (p.Ser171Trp)
c.344C>G (p.Ser115Trp)
c.*18C>G (n.*18C>G)
ClinVar dbSNP gnomAD v4
1g.119033311G=CA1192128233WARS2c.683C= (p.Ser228=)
c.*49C= (n.*49C=)
n.607C=
c.629C= (p.Ser210=)
c.401C= (p.Ser134=)
c.614C= (p.Ser205=)
c.425C= (p.Ser142=)
c.626C= (p.Ser209=)
c.512C= (p.Ser171=)
c.344C= (p.Ser115=)
c.*18C= (n.*18C=)
1g.119033311G>TCA341436845WARS2c.683C>A (p.Ser228Ter)
c.*49C>A (n.*49C>A)
n.607C>A
c.629C>A (p.Ser210Ter)
c.401C>A (p.Ser134Ter)
c.614C>A (p.Ser205Ter)
c.425C>A (p.Ser142Ter)
c.626C>A (p.Ser209Ter)
c.512C>A (p.Ser171Ter)
c.344C>A (p.Ser115Ter)
c.*18C>A (n.*18C>A)
1g.119033312A>CCA341436847WARS2c.682T>G (p.Ser228Ala)
c.*48T>G (n.*48T>G)
n.606T>G
c.628T>G (p.Ser210Ala)
c.400T>G (p.Ser134Ala)
c.613T>G (p.Ser205Ala)
c.424T>G (p.Ser142Ala)
c.625T>G (p.Ser209Ala)
c.511T>G (p.Ser171Ala)
c.343T>G (p.Ser115Ala)
c.*17T>G (n.*17T>G)
1g.119033312A>GCA341436848WARS2c.682T>C (p.Ser228Pro)
c.*48T>C (n.*48T>C)
n.606T>C
c.628T>C (p.Ser210Pro)
c.400T>C (p.Ser134Pro)
c.613T>C (p.Ser205Pro)
c.424T>C (p.Ser142Pro)
c.625T>C (p.Ser209Pro)
c.511T>C (p.Ser171Pro)
c.343T>C (p.Ser115Pro)
c.*17T>C (n.*17T>C)
1g.119033312A>TCA341436849WARS2c.682T>A (p.Ser228Thr)
c.*48T>A (n.*48T>A)
n.606T>A
c.628T>A (p.Ser210Thr)
c.400T>A (p.Ser134Thr)
c.613T>A (p.Ser205Thr)
c.424T>A (p.Ser142Thr)
c.625T>A (p.Ser209Thr)
c.511T>A (p.Ser171Thr)
c.343T>A (p.Ser115Thr)
c.*17T>A (n.*17T>A)
1g.119033313C>ACA341436850WARS2c.681G>T (p.Met227Ile)
c.*47G>T (n.*47G>T)
n.605G>T
c.627G>T (p.Met209Ile)
c.399G>T (p.Met133Ile)
c.612G>T (p.Met204Ile)
c.423G>T (p.Met141Ile)
c.624G>T (p.Met208Ile)
c.510G>T (p.Met170Ile)
c.342G>T (p.Met114Ile)
c.*16G>T (n.*16G>T)
1g.119033313C>GCA341436851WARS2c.681G>C (p.Met227Ile)
c.*47G>C (n.*47G>C)
n.605G>C
c.627G>C (p.Met209Ile)
c.399G>C (p.Met133Ile)
c.612G>C (p.Met204Ile)
c.423G>C (p.Met141Ile)
c.624G>C (p.Met208Ile)
c.510G>C (p.Met170Ile)
c.342G>C (p.Met114Ile)
c.*16G>C (n.*16G>C)
1g.119033313C>TCA341436852WARS2c.681G>A (p.Met227Ile)
c.*47G>A (n.*47G>A)
n.605G>A
c.627G>A (p.Met209Ile)
c.399G>A (p.Met133Ile)
c.612G>A (p.Met204Ile)
c.423G>A (p.Met141Ile)
c.624G>A (p.Met208Ile)
c.510G>A (p.Met170Ile)
c.342G>A (p.Met114Ile)
c.*16G>A (n.*16G>A)
1g.119033314A>CCA341436853WARS2c.680T>G (p.Met227Arg)
c.*46T>G (n.*46T>G)
n.604T>G
c.626T>G (p.Met209Arg)
c.398T>G (p.Met133Arg)
c.611T>G (p.Met204Arg)
c.422T>G (p.Met141Arg)
c.623T>G (p.Met208Arg)
c.509T>G (p.Met170Arg)
c.341T>G (p.Met114Arg)
c.*15T>G (n.*15T>G)
1g.119033314A>GCA341436854WARS2c.680T>C (p.Met227Thr)
c.*46T>C (n.*46T>C)
n.604T>C
c.626T>C (p.Met209Thr)
c.398T>C (p.Met133Thr)
c.611T>C (p.Met204Thr)
c.422T>C (p.Met141Thr)
c.623T>C (p.Met208Thr)
c.509T>C (p.Met170Thr)
c.341T>C (p.Met114Thr)
c.*15T>C (n.*15T>C)
ClinVar dbSNP
1g.119033314A>TCA341436855WARS2c.680T>A (p.Met227Lys)
c.*46T>A (n.*46T>A)
n.604T>A
c.626T>A (p.Met209Lys)
c.398T>A (p.Met133Lys)
c.611T>A (p.Met204Lys)
c.422T>A (p.Met141Lys)
c.623T>A (p.Met208Lys)
c.509T>A (p.Met170Lys)
c.341T>A (p.Met114Lys)
c.*15T>A (n.*15T>A)
1g.119033315T>ACA341436858WARS2c.679A>T (p.Met227Leu)
c.*45A>T (n.*45A>T)
n.603A>T
c.625A>T (p.Met209Leu)
c.397A>T (p.Met133Leu)
c.610A>T (p.Met204Leu)
c.421A>T (p.Met141Leu)
c.622A>T (p.Met208Leu)
c.508A>T (p.Met170Leu)
c.340A>T (p.Met114Leu)
c.*14A>T (n.*14A>T)
1g.119033315T>CCA341436857WARS2c.679A>G (p.Met227Val)
c.*45A>G (n.*45A>G)
n.603A>G
c.625A>G (p.Met209Val)
c.397A>G (p.Met133Val)
c.610A>G (p.Met204Val)
c.421A>G (p.Met141Val)
c.622A>G (p.Met208Val)
c.508A>G (p.Met170Val)
c.340A>G (p.Met114Val)
c.*14A>G (n.*14A>G)
1g.119033315T>GCA341436856WARS2c.679A>C (p.Met227Leu)
c.*45A>C (n.*45A>C)
n.603A>C
c.625A>C (p.Met209Leu)
c.397A>C (p.Met133Leu)
c.610A>C (p.Met204Leu)
c.421A>C (p.Met141Leu)
c.622A>C (p.Met208Leu)
c.508A>C (p.Met170Leu)
c.340A>C (p.Met114Leu)
c.*14A>C (n.*14A>C)
1g.119033316T>ACA341436859WARS2c.678A>T (p.Lys226Asn)
c.*44A>T (n.*44A>T)
n.602A>T
c.624A>T (p.Lys208Asn)
c.396A>T (p.Lys132Asn)
c.609A>T (p.Lys203Asn)
c.420A>T (p.Lys140Asn)
c.621A>T (p.Lys207Asn)
c.507A>T (p.Lys169Asn)
c.339A>T (p.Lys113Asn)
c.*13A>T (n.*13A>T)
1g.119033316T>CCA420192902WARS2c.678A>G (p.Lys226=)
c.*44A>G (n.*44A>G)
n.602A>G
c.624A>G (p.Lys208=)
c.396A>G (p.Lys132=)
c.609A>G (p.Lys203=)
c.420A>G (p.Lys140=)
c.621A>G (p.Lys207=)
c.507A>G (p.Lys169=)
c.339A>G (p.Lys113=)
c.*13A>G (n.*13A>G)
1g.119033316T>GCA341436860WARS2c.678A>C (p.Lys226Asn)
c.*44A>C (n.*44A>C)
n.602A>C
c.624A>C (p.Lys208Asn)
c.396A>C (p.Lys132Asn)
c.609A>C (p.Lys203Asn)
c.420A>C (p.Lys140Asn)
c.621A>C (p.Lys207Asn)
c.507A>C (p.Lys169Asn)
c.339A>C (p.Lys113Asn)
c.*13A>C (n.*13A>C)
1g.119033317T>ACA341436861WARS2c.677A>T (p.Lys226Ile)
c.*43A>T (n.*43A>T)
n.601A>T
c.623A>T (p.Lys208Ile)
c.395A>T (p.Lys132Ile)
c.608A>T (p.Lys203Ile)
c.419A>T (p.Lys140Ile)
c.620A>T (p.Lys207Ile)
c.506A>T (p.Lys169Ile)
c.338A>T (p.Lys113Ile)
c.*12A>T (n.*12A>T)
1g.119033317T>CCA341436862WARS2c.677A>G (p.Lys226Arg)
c.*43A>G (n.*43A>G)
n.601A>G
c.623A>G (p.Lys208Arg)
c.395A>G (p.Lys132Arg)
c.608A>G (p.Lys203Arg)
c.419A>G (p.Lys140Arg)
c.620A>G (p.Lys207Arg)
c.506A>G (p.Lys169Arg)
c.338A>G (p.Lys113Arg)
c.*12A>G (n.*12A>G)
1g.119033317T>GCA341436863WARS2c.677A>C (p.Lys226Thr)
c.*43A>C (n.*43A>C)
n.601A>C
c.623A>C (p.Lys208Thr)
c.395A>C (p.Lys132Thr)
c.608A>C (p.Lys203Thr)
c.419A>C (p.Lys140Thr)
c.620A>C (p.Lys207Thr)
c.506A>C (p.Lys169Thr)
c.338A>C (p.Lys113Thr)
c.*12A>C (n.*12A>C)
1g.119033318T>ACA341436864WARS2c.676A>T (p.Lys226Ter)
c.*42A>T (n.*42A>T)
n.600A>T
c.622A>T (p.Lys208Ter)
c.394A>T (p.Lys132Ter)
c.607A>T (p.Lys203Ter)
c.418A>T (p.Lys140Ter)
c.619A>T (p.Lys207Ter)
c.505A>T (p.Lys169Ter)
c.337A>T (p.Lys113Ter)
c.*11A>T (n.*11A>T)
1g.119033318T>CCA341436865WARS2c.676A>G (p.Lys226Glu)
c.*42A>G (n.*42A>G)
n.600A>G
c.622A>G (p.Lys208Glu)
c.394A>G (p.Lys132Glu)
c.607A>G (p.Lys203Glu)
c.418A>G (p.Lys140Glu)
c.619A>G (p.Lys207Glu)
c.505A>G (p.Lys169Glu)
c.337A>G (p.Lys113Glu)
c.*11A>G (n.*11A>G)
1g.119033318T>GCA341436866WARS2c.676A>C (p.Lys226Gln)
c.*42A>C (n.*42A>C)
n.600A>C
c.622A>C (p.Lys208Gln)
c.394A>C (p.Lys132Gln)
c.607A>C (p.Lys203Gln)
c.418A>C (p.Lys140Gln)
c.619A>C (p.Lys207Gln)
c.505A>C (p.Lys169Gln)
c.337A>C (p.Lys113Gln)
c.*11A>C (n.*11A>C)
1g.119033319G>ACA1035234WARS2c.675C>T (p.Ala225=)
c.*41C>T (n.*41C>T)
n.599C>T
c.621C>T (p.Ala207=)
c.393C>T (p.Ala131=)
c.606C>T (p.Ala202=)
c.417C>T (p.Ala139=)
c.618C>T (p.Ala206=)
c.504C>T (p.Ala168=)
c.336C>T (p.Ala112=)
c.*10C>T (n.*10C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.119033319G>CCA420192903WARS2c.675C>G (p.Ala225=)
c.*41C>G (n.*41C>G)
n.599C>G
c.621C>G (p.Ala207=)
c.393C>G (p.Ala131=)
c.606C>G (p.Ala202=)
c.417C>G (p.Ala139=)
c.618C>G (p.Ala206=)
c.504C>G (p.Ala168=)
c.336C>G (p.Ala112=)
c.*10C>G (n.*10C>G)
1g.119033319G=CA1149111057WARS2c.675C= (p.Ala225=)
c.*41C= (n.*41C=)
n.599C=
c.621C= (p.Ala207=)
c.393C= (p.Ala131=)
c.606C= (p.Ala202=)
c.417C= (p.Ala139=)
c.618C= (p.Ala206=)
c.504C= (p.Ala168=)
c.336C= (p.Ala112=)
c.*10C= (n.*10C=)
1g.119033319G>TCA420192904WARS2c.675C>A (p.Ala225=)
c.*41C>A (n.*41C>A)
n.599C>A
c.621C>A (p.Ala207=)
c.393C>A (p.Ala131=)
c.606C>A (p.Ala202=)
c.417C>A (p.Ala139=)
c.618C>A (p.Ala206=)
c.504C>A (p.Ala168=)
c.336C>A (p.Ala112=)
c.*10C>A (n.*10C>A)
1g.119033320G>ACA341436867WARS2c.674C>T (p.Ala225Val)
c.*40C>T (n.*40C>T)
n.598C>T
c.620C>T (p.Ala207Val)
c.392C>T (p.Ala131Val)
c.605C>T (p.Ala202Val)
c.416C>T (p.Ala139Val)
c.617C>T (p.Ala206Val)
c.503C>T (p.Ala168Val)
c.335C>T (p.Ala112Val)
c.*9C>T (n.*9C>T)
gnomAD v4
1g.119033320G>CCA341436868WARS2c.674C>G (p.Ala225Gly)
c.*40C>G (n.*40C>G)
n.598C>G
c.620C>G (p.Ala207Gly)
c.392C>G (p.Ala131Gly)
c.605C>G (p.Ala202Gly)
c.416C>G (p.Ala139Gly)
c.617C>G (p.Ala206Gly)
c.503C>G (p.Ala168Gly)
c.335C>G (p.Ala112Gly)
c.*9C>G (n.*9C>G)
gnomAD v4
1g.119033320G>TCA341436869WARS2c.674C>A (p.Ala225Asp)
c.*40C>A (n.*40C>A)
n.598C>A
c.620C>A (p.Ala207Asp)
c.392C>A (p.Ala131Asp)
c.605C>A (p.Ala202Asp)
c.416C>A (p.Ala139Asp)
c.617C>A (p.Ala206Asp)
c.503C>A (p.Ala168Asp)
c.335C>A (p.Ala112Asp)
c.*9C>A (n.*9C>A)
1g.119033321C>ACA341436872WARS2c.673G>T (p.Ala225Ser)
c.*39G>T (n.*39G>T)
n.597G>T
c.619G>T (p.Ala207Ser)
c.391G>T (p.Ala131Ser)
c.604G>T (p.Ala202Ser)
c.415G>T (p.Ala139Ser)
c.616G>T (p.Ala206Ser)
c.502G>T (p.Ala168Ser)
c.334G>T (p.Ala112Ser)
c.*8G>T (n.*8G>T)
1g.119033321C>GCA341436871WARS2c.673G>C (p.Ala225Pro)
c.*39G>C (n.*39G>C)
n.597G>C
c.619G>C (p.Ala207Pro)
c.391G>C (p.Ala131Pro)
c.604G>C (p.Ala202Pro)
c.415G>C (p.Ala139Pro)
c.616G>C (p.Ala206Pro)
c.502G>C (p.Ala168Pro)
c.334G>C (p.Ala112Pro)
c.*8G>C (n.*8G>C)
1g.119033321C>TCA341436870WARS2c.673G>A (p.Ala225Thr)
c.*39G>A (n.*39G>A)
n.597G>A
c.619G>A (p.Ala207Thr)
c.391G>A (p.Ala131Thr)
c.604G>A (p.Ala202Thr)
c.415G>A (p.Ala139Thr)
c.616G>A (p.Ala206Thr)
c.502G>A (p.Ala168Thr)
c.334G>A (p.Ala112Thr)
c.*8G>A (n.*8G>A)
1g.119033322A>CCA420192905WARS2c.672T>G (p.Ser224=)
c.*38T>G (n.*38T>G)
n.596T>G
c.618T>G (p.Ser206=)
c.390T>G (p.Ser130=)
c.603T>G (p.Ser201=)
c.414T>G (p.Ser138=)
c.615T>G (p.Ser205=)
c.501T>G (p.Ser167=)
c.333T>G (p.Ser111=)
c.*7T>G (n.*7T>G)
1g.119033322A>GCA420192907WARS2c.672T>C (p.Ser224=)
c.*38T>C (n.*38T>C)
n.596T>C
c.618T>C (p.Ser206=)
c.390T>C (p.Ser130=)
c.603T>C (p.Ser201=)
c.414T>C (p.Ser138=)
c.615T>C (p.Ser205=)
c.501T>C (p.Ser167=)
c.333T>C (p.Ser111=)
c.*7T>C (n.*7T>C)
1g.119033322A>TCA420192906WARS2c.672T>A (p.Ser224=)
c.*38T>A (n.*38T>A)
n.596T>A
c.618T>A (p.Ser206=)
c.390T>A (p.Ser130=)
c.603T>A (p.Ser201=)
c.414T>A (p.Ser138=)
c.615T>A (p.Ser205=)
c.501T>A (p.Ser167=)
c.333T>A (p.Ser111=)
c.*7T>A (n.*7T>A)
1g.119033323G>ACA341436873WARS2c.671C>T (p.Ser224Phe)
c.*37C>T (n.*37C>T)
n.595C>T
c.617C>T (p.Ser206Phe)
c.389C>T (p.Ser130Phe)
c.602C>T (p.Ser201Phe)
c.413C>T (p.Ser138Phe)
c.614C>T (p.Ser205Phe)
c.500C>T (p.Ser167Phe)
c.332C>T (p.Ser111Phe)
c.*6C>T (n.*6C>T)
dbSNP
1g.119033323G>CCA341436874WARS2c.671C>G (p.Ser224Cys)
c.*37C>G (n.*37C>G)
n.595C>G
c.617C>G (p.Ser206Cys)
c.389C>G (p.Ser130Cys)
c.602C>G (p.Ser201Cys)
c.413C>G (p.Ser138Cys)
c.614C>G (p.Ser205Cys)
c.500C>G (p.Ser167Cys)
c.332C>G (p.Ser111Cys)
c.*6C>G (n.*6C>G)
1g.119033323G>TCA341436875WARS2c.671C>A (p.Ser224Tyr)
c.*37C>A (n.*37C>A)
n.595C>A
c.617C>A (p.Ser206Tyr)
c.389C>A (p.Ser130Tyr)
c.602C>A (p.Ser201Tyr)
c.413C>A (p.Ser138Tyr)
c.614C>A (p.Ser205Tyr)
c.500C>A (p.Ser167Tyr)
c.332C>A (p.Ser111Tyr)
c.*6C>A (n.*6C>A)
1g.119033324A>CCA341436876WARS2c.670T>G (p.Ser224Ala)
c.*36T>G (n.*36T>G)
n.594T>G
c.616T>G (p.Ser206Ala)
c.388T>G (p.Ser130Ala)
c.601T>G (p.Ser201Ala)
c.412T>G (p.Ser138Ala)
c.613T>G (p.Ser205Ala)
c.499T>G (p.Ser167Ala)
c.331T>G (p.Ser111Ala)
c.*5T>G (n.*5T>G)
1g.119033324A>GCA341436877WARS2c.670T>C (p.Ser224Pro)
c.*36T>C (n.*36T>C)
n.594T>C
c.616T>C (p.Ser206Pro)
c.388T>C (p.Ser130Pro)
c.601T>C (p.Ser201Pro)
c.412T>C (p.Ser138Pro)
c.613T>C (p.Ser205Pro)
c.499T>C (p.Ser167Pro)
c.331T>C (p.Ser111Pro)
c.*5T>C (n.*5T>C)
1g.119033324A>TCA341436878WARS2c.670T>A (p.Ser224Thr)
c.*36T>A (n.*36T>A)
n.594T>A
c.616T>A (p.Ser206Thr)
c.388T>A (p.Ser130Thr)
c.601T>A (p.Ser201Thr)
c.412T>A (p.Ser138Thr)
c.613T>A (p.Ser205Thr)
c.499T>A (p.Ser167Thr)
c.331T>A (p.Ser111Thr)
c.*5T>A (n.*5T>A)
1g.119033325A>CCA420192908WARS2c.669T>G (p.Pro223=)
c.*35T>G (n.*35T>G)
n.593T>G
c.615T>G (p.Pro205=)
c.387T>G (p.Pro129=)
c.600T>G (p.Pro200=)
c.411T>G (p.Pro137=)
c.612T>G (p.Pro204=)
c.498T>G (p.Pro166=)
c.330T>G (p.Pro110=)
c.*4T>G (n.*4T>G)
1g.119033325A>GCA420192910WARS2c.669T>C (p.Pro223=)
c.*35T>C (n.*35T>C)
n.593T>C
c.615T>C (p.Pro205=)
c.387T>C (p.Pro129=)
c.600T>C (p.Pro200=)
c.411T>C (p.Pro137=)
c.612T>C (p.Pro204=)
c.498T>C (p.Pro166=)
c.330T>C (p.Pro110=)
c.*4T>C (n.*4T>C)
1g.119033325A>TCA420192911WARS2c.669T>A (p.Pro223=)
c.*35T>A (n.*35T>A)
n.593T>A
c.615T>A (p.Pro205=)
c.387T>A (p.Pro129=)
c.600T>A (p.Pro200=)
c.411T>A (p.Pro137=)
c.612T>A (p.Pro204=)
c.498T>A (p.Pro166=)
c.330T>A (p.Pro110=)
c.*4T>A (n.*4T>A)
1g.119033326G>ACA1035235WARS2c.668C>T (p.Pro223Leu)
c.*34C>T (n.*34C>T)
n.592C>T
c.614C>T (p.Pro205Leu)
c.386C>T (p.Pro129Leu)
c.599C>T (p.Pro200Leu)
c.410C>T (p.Pro137Leu)
c.611C>T (p.Pro204Leu)
c.497C>T (p.Pro166Leu)
c.329C>T (p.Pro110Leu)
c.*3C>T (n.*3C>T)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.119033326G>CCA341436879WARS2c.668C>G (p.Pro223Arg)
c.*34C>G (n.*34C>G)
n.592C>G
c.614C>G (p.Pro205Arg)
c.386C>G (p.Pro129Arg)
c.599C>G (p.Pro200Arg)
c.410C>G (p.Pro137Arg)
c.611C>G (p.Pro204Arg)
c.497C>G (p.Pro166Arg)
c.329C>G (p.Pro110Arg)
c.*3C>G (n.*3C>G)
1g.119033326G=CA1192128234WARS2c.668C= (p.Pro223=)
c.*34C= (n.*34C=)
n.592C=
c.614C= (p.Pro205=)
c.386C= (p.Pro129=)
c.599C= (p.Pro200=)
c.410C= (p.Pro137=)
c.611C= (p.Pro204=)
c.497C= (p.Pro166=)
c.329C= (p.Pro110=)
c.*3C= (n.*3C=)
1g.119033326G>TCA341436880WARS2c.668C>A (p.Pro223His)
c.*34C>A (n.*34C>A)
n.592C>A
c.614C>A (p.Pro205His)
c.386C>A (p.Pro129His)
c.599C>A (p.Pro200His)
c.410C>A (p.Pro137His)
c.611C>A (p.Pro204His)
c.497C>A (p.Pro166His)
c.329C>A (p.Pro110His)
c.*3C>A (n.*3C>A)
1g.119033327G>ACA341436881WARS2c.667C>T (p.Pro223Ser)
c.*33C>T (n.*33C>T)
n.591C>T
c.613C>T (p.Pro205Ser)
c.385C>T (p.Pro129Ser)
c.598C>T (p.Pro200Ser)
c.409C>T (p.Pro137Ser)
c.610C>T (p.Pro204Ser)
c.496C>T (p.Pro166Ser)
c.328C>T (p.Pro110Ser)
c.*2C>T (n.*2C>T)
1g.119033327G>CCA341436882WARS2c.667C>G (p.Pro223Ala)
c.*33C>G (n.*33C>G)
n.591C>G
c.613C>G (p.Pro205Ala)
c.385C>G (p.Pro129Ala)
c.598C>G (p.Pro200Ala)
c.409C>G (p.Pro137Ala)
c.610C>G (p.Pro204Ala)
c.496C>G (p.Pro166Ala)
c.328C>G (p.Pro110Ala)
c.*2C>G (n.*2C>G)
dbSNP
1g.119033327G=CA1192128235WARS2c.667C= (p.Pro223=)
c.*33C= (n.*33C=)
n.591C=
c.613C= (p.Pro205=)
c.385C= (p.Pro129=)
c.598C= (p.Pro200=)
c.409C= (p.Pro137=)
c.610C= (p.Pro204=)
c.496C= (p.Pro166=)
c.328C= (p.Pro110=)
c.*2C= (n.*2C=)
1g.119033327G>TCA341436883WARS2c.667C>A (p.Pro223Thr)
c.*33C>A (n.*33C>A)
n.591C>A
c.613C>A (p.Pro205Thr)
c.385C>A (p.Pro129Thr)
c.598C>A (p.Pro200Thr)
c.409C>A (p.Pro137Thr)
c.610C>A (p.Pro204Thr)
c.496C>A (p.Pro166Thr)
c.328C>A (p.Pro110Thr)
c.*2C>A (n.*2C>A)
1g.119033328A>CCA341436885WARS2c.666T>G (p.Asp222Glu)
c.*32T>G (n.*32T>G)
n.590T>G
c.612T>G (p.Asp204Glu)
c.384T>G (p.Asp128Glu)
c.597T>G (p.Asp199Glu)
c.408T>G (p.Asp136Glu)
c.609T>G (p.Asp203Glu)
c.495T>G (p.Asp165Glu)
c.327T>G (p.Asp109Glu)
c.*1T>G (n.*1T>G)
1g.119033328A>GCA420192913WARS2c.666T>C (p.Asp222=)
c.*32T>C (n.*32T>C)
n.590T>C
c.612T>C (p.Asp204=)
c.384T>C (p.Asp128=)
c.597T>C (p.Asp199=)
c.408T>C (p.Asp136=)
c.609T>C (p.Asp203=)
c.495T>C (p.Asp165=)
c.327T>C (p.Asp109=)
c.*1T>C (n.*1T>C)
1g.119033328A>TCA341436884WARS2c.666T>A (p.Asp222Glu)
c.*32T>A (n.*32T>A)
n.590T>A
c.612T>A (p.Asp204Glu)
c.384T>A (p.Asp128Glu)
c.597T>A (p.Asp199Glu)
c.408T>A (p.Asp136Glu)
c.609T>A (p.Asp203Glu)
c.495T>A (p.Asp165Glu)
c.327T>A (p.Asp109Glu)
c.*1T>A (n.*1T>A)
1g.119033329T>ACA341436886WARS2c.665A>T (p.Asp222Val)
c.*31A>T (n.*31A>T)
n.589A>T
c.611A>T (p.Asp204Val)
c.383A>T (p.Asp128Val)
c.596A>T (p.Asp199Val)
c.407A>T (p.Asp136Val)
c.608A>T (p.Asp203Val)
c.494A>T (p.Asp165Val)
c.326A>T (p.Asp109Val)
c.579A>T (p.Ter193Cys)
1g.119033329T>CCA341436887WARS2c.665A>G (p.Asp222Gly)
c.*31A>G (n.*31A>G)
n.589A>G
c.611A>G (p.Asp204Gly)
c.383A>G (p.Asp128Gly)
c.596A>G (p.Asp199Gly)
c.407A>G (p.Asp136Gly)
c.608A>G (p.Asp203Gly)
c.494A>G (p.Asp165Gly)
c.326A>G (p.Asp109Gly)
c.579A>G (p.Ter193Trp)
ClinVar dbSNP
1g.119033329T>GCA341436888WARS2c.665A>C (p.Asp222Ala)
c.*31A>C (n.*31A>C)
n.589A>C
c.611A>C (p.Asp204Ala)
c.383A>C (p.Asp128Ala)
c.596A>C (p.Asp199Ala)
c.407A>C (p.Asp136Ala)
c.608A>C (p.Asp203Ala)
c.494A>C (p.Asp165Ala)
c.326A>C (p.Asp109Ala)
c.579A>C (p.Ter193Cys)
1g.119033329T=CA1192128236WARS2c.665A= (p.Asp222=)
c.*31A= (n.*31A=)
n.589A=
c.611A= (p.Asp204=)
c.383A= (p.Asp128=)
c.596A= (p.Asp199=)
c.407A= (p.Asp136=)
c.608A= (p.Asp203=)
c.494A= (p.Asp165=)
c.326A= (p.Asp109=)
c.579A= (p.Ter193=)
1g.119033330C>ACA341436889WARS2c.664G>T (p.Asp222Tyr)
c.*30G>T (n.*30G>T)
n.588G>T
c.610G>T (p.Asp204Tyr)
c.382G>T (p.Asp128Tyr)
c.595G>T (p.Asp199Tyr)
c.406G>T (p.Asp136Tyr)
c.607G>T (p.Asp203Tyr)
c.493G>T (p.Asp165Tyr)
c.325G>T (p.Asp109Tyr)
c.578G>T (p.Ter193Leu)
1g.119033330C>GCA341436890WARS2c.664G>C (p.Asp222His)
c.*30G>C (n.*30G>C)
n.588G>C
c.610G>C (p.Asp204His)
c.382G>C (p.Asp128His)
c.595G>C (p.Asp199His)
c.406G>C (p.Asp136His)
c.607G>C (p.Asp203His)
c.493G>C (p.Asp165His)
c.325G>C (p.Asp109His)
c.578G>C (p.Ter193Ser)
1g.119033330C>TCA341436891WARS2c.664G>A (p.Asp222Asn)
c.*30G>A (n.*30G>A)
n.588G>A
c.610G>A (p.Asp204Asn)
c.382G>A (p.Asp128Asn)
c.595G>A (p.Asp199Asn)
c.406G>A (p.Asp136Asn)
c.607G>A (p.Asp203Asn)
c.493G>A (p.Asp165Asn)
c.325G>A (p.Asp109Asn)
c.578G>A (p.Ter193=)
1g.119033331A=CA1192128237WARS2c.663T= (p.Arg221=)
c.*29T= (n.*29T=)
n.587T=
c.609T= (p.Arg203=)
c.381T= (p.Arg127=)
c.594T= (p.Arg198=)
c.405T= (p.Arg135=)
c.606T= (p.Arg202=)
c.492T= (p.Arg164=)
c.324T= (p.Arg108=)
c.577T= (p.Ter193=)
1g.119033331A>CCA420192917WARS2c.663T>G (p.Arg221=)
c.*29T>G (n.*29T>G)
n.587T>G
c.609T>G (p.Arg203=)
c.381T>G (p.Arg127=)
c.594T>G (p.Arg198=)
c.405T>G (p.Arg135=)
c.606T>G (p.Arg202=)
c.492T>G (p.Arg164=)
c.324T>G (p.Arg108=)
c.577T>G (p.Ter193Gly)
1g.119033331A>GCA420192918WARS2c.663T>C (p.Arg221=)
c.*29T>C (n.*29T>C)
n.587T>C
c.609T>C (p.Arg203=)
c.381T>C (p.Arg127=)
c.594T>C (p.Arg198=)
c.405T>C (p.Arg135=)
c.606T>C (p.Arg202=)
c.492T>C (p.Arg164=)
c.324T>C (p.Arg108=)
c.577T>C (p.Ter193Arg)
1g.119033331A>TCA30376567WARS2c.663T>A (p.Arg221=)
c.*29T>A (n.*29T>A)
n.587T>A
c.609T>A (p.Arg203=)
c.381T>A (p.Arg127=)
c.594T>A (p.Arg198=)
c.405T>A (p.Arg135=)
c.606T>A (p.Arg202=)
c.492T>A (p.Arg164=)
c.324T>A (p.Arg108=)
c.577T>A (p.Ter193Arg)
dbSNP
1g.119033332C>ACA341436892WARS2c.662G>T (p.Arg221Leu)
c.*28G>T (n.*28G>T)
n.586G>T
c.608G>T (p.Arg203Leu)
c.380G>T (p.Arg127Leu)
c.593G>T (p.Arg198Leu)
c.404G>T (p.Arg135Leu)
c.605G>T (p.Arg202Leu)
c.491G>T (p.Arg164Leu)
c.323G>T (p.Arg108Leu)
c.576G>T (p.Thr192=)
1g.119033332C>GCA341436893WARS2c.662G>C (p.Arg221Pro)
c.*28G>C (n.*28G>C)
n.586G>C
c.608G>C (p.Arg203Pro)
c.380G>C (p.Arg127Pro)
c.593G>C (p.Arg198Pro)
c.404G>C (p.Arg135Pro)
c.605G>C (p.Arg202Pro)
c.491G>C (p.Arg164Pro)
c.323G>C (p.Arg108Pro)
c.576G>C (p.Thr192=)
1g.119033332C>TCA341436894WARS2c.662G>A (p.Arg221His)
c.*28G>A (n.*28G>A)
n.586G>A
c.608G>A (p.Arg203His)
c.380G>A (p.Arg127His)
c.593G>A (p.Arg198His)
c.404G>A (p.Arg135His)
c.605G>A (p.Arg202His)
c.491G>A (p.Arg164His)
c.323G>A (p.Arg108His)
c.576G>A (p.Thr192=)
gnomAD v4 COSMIC
1g.119033333G>ACA1035236WARS2c.661C>T (p.Arg221Cys)
c.*27C>T (n.*27C>T)
n.585C>T
c.607C>T (p.Arg203Cys)
c.379C>T (p.Arg127Cys)
c.592C>T (p.Arg198Cys)
c.403C>T (p.Arg135Cys)
c.604C>T (p.Arg202Cys)
c.490C>T (p.Arg164Cys)
c.322C>T (p.Arg108Cys)
c.575C>T (p.Thr192Met)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.119033333G>CCA341436895WARS2c.661C>G (p.Arg221Gly)
c.*27C>G (n.*27C>G)
n.585C>G
c.607C>G (p.Arg203Gly)
c.379C>G (p.Arg127Gly)
c.592C>G (p.Arg198Gly)
c.403C>G (p.Arg135Gly)
c.604C>G (p.Arg202Gly)
c.490C>G (p.Arg164Gly)
c.322C>G (p.Arg108Gly)
c.575C>G (p.Thr192Arg)
1g.119033333G=CA1192128238WARS2c.661C= (p.Arg221=)
c.*27C= (n.*27C=)
n.585C=
c.607C= (p.Arg203=)
c.379C= (p.Arg127=)
c.592C= (p.Arg198=)
c.403C= (p.Arg135=)
c.604C= (p.Arg202=)
c.490C= (p.Arg164=)
c.322C= (p.Arg108=)
c.575C= (p.Thr192=)
1g.119033333G>TCA341436896WARS2c.661C>A (p.Arg221Ser)
c.*27C>A (n.*27C>A)
n.585C>A
c.607C>A (p.Arg203Ser)
c.379C>A (p.Arg127Ser)
c.592C>A (p.Arg198Ser)
c.403C>A (p.Arg135Ser)
c.604C>A (p.Arg202Ser)
c.490C>A (p.Arg164Ser)
c.322C>A (p.Arg108Ser)
c.575C>A (p.Thr192Lys)
1g.119033334T>ACA420192920WARS2c.660A>T (p.Leu220=)
c.*26A>T (n.*26A>T)
n.584A>T
c.606A>T (p.Leu202=)
c.378A>T (p.Leu126=)
c.591A>T (p.Leu197=)
c.402A>T (p.Leu134=)
c.603A>T (p.Leu201=)
c.489A>T (p.Leu163=)
c.321A>T (p.Leu107=)
c.574A>T (p.Thr192Ser)
COSMIC
1g.119033334T>CCA1035237WARS2c.660A>G (p.Leu220=)
c.*26A>G (n.*26A>G)
n.584A>G
c.606A>G (p.Leu202=)
c.378A>G (p.Leu126=)
c.591A>G (p.Leu197=)
c.402A>G (p.Leu134=)
c.603A>G (p.Leu201=)
c.489A>G (p.Leu163=)
c.321A>G (p.Leu107=)
c.574A>G (p.Thr192Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.119033334T>GCA420192919WARS2c.660A>C (p.Leu220=)
c.*26A>C (n.*26A>C)
n.584A>C
c.606A>C (p.Leu202=)
c.378A>C (p.Leu126=)
c.591A>C (p.Leu197=)
c.402A>C (p.Leu134=)
c.603A>C (p.Leu201=)
c.489A>C (p.Leu163=)
c.321A>C (p.Leu107=)
c.574A>C (p.Thr192Pro)
1g.119033334T=CA1147116239WARS2c.660A= (p.Leu220=)
c.*26A= (n.*26A=)
n.584A=
c.606A= (p.Leu202=)
c.378A= (p.Leu126=)
c.591A= (p.Leu197=)
c.402A= (p.Leu134=)
c.603A= (p.Leu201=)
c.489A= (p.Leu163=)
c.321A= (p.Leu107=)
c.574A= (p.Thr192=)
1g.119033335A>CCA341436898WARS2c.659T>G (p.Leu220Arg)
c.*25T>G (n.*25T>G)
n.583T>G
c.605T>G (p.Leu202Arg)
c.377T>G (p.Leu126Arg)
c.590T>G (p.Leu197Arg)
c.401T>G (p.Leu134Arg)
c.602T>G (p.Leu201Arg)
c.488T>G (p.Leu163Arg)
c.320T>G (p.Leu107Arg)
c.573T>G (p.Pro191=)
1g.119033335A>GCA341436899WARS2c.659T>C (p.Leu220Pro)
c.*25T>C (n.*25T>C)
n.583T>C
c.605T>C (p.Leu202Pro)
c.377T>C (p.Leu126Pro)
c.590T>C (p.Leu197Pro)
c.401T>C (p.Leu134Pro)
c.602T>C (p.Leu201Pro)
c.488T>C (p.Leu163Pro)
c.320T>C (p.Leu107Pro)
c.573T>C (p.Pro191=)
1g.119033335A>TCA341436897WARS2c.659T>A (p.Leu220Gln)
c.*25T>A (n.*25T>A)
n.583T>A
c.605T>A (p.Leu202Gln)
c.377T>A (p.Leu126Gln)
c.590T>A (p.Leu197Gln)
c.401T>A (p.Leu134Gln)
c.602T>A (p.Leu201Gln)
c.488T>A (p.Leu163Gln)
c.320T>A (p.Leu107Gln)
c.573T>A (p.Pro191=)
1g.119033336G>ACA420192921WARS2c.658C>T (p.Leu220=)
c.*24C>T (n.*24C>T)
n.582C>T
c.604C>T (p.Leu202=)
c.376C>T (p.Leu126=)
c.589C>T (p.Leu197=)
c.400C>T (p.Leu134=)
c.601C>T (p.Leu201=)
c.487C>T (p.Leu163=)
c.319C>T (p.Leu107=)
c.572C>T (p.Pro191Leu)
1g.119033336G>CCA341436901WARS2c.658C>G (p.Leu220Val)
c.*24C>G (n.*24C>G)
n.582C>G
c.604C>G (p.Leu202Val)
c.376C>G (p.Leu126Val)
c.589C>G (p.Leu197Val)
c.400C>G (p.Leu134Val)
c.601C>G (p.Leu201Val)
c.487C>G (p.Leu163Val)
c.319C>G (p.Leu107Val)
c.572C>G (p.Pro191Arg)
1g.119033336G>TCA341436900WARS2c.658C>A (p.Leu220Ile)
c.*24C>A (n.*24C>A)
n.582C>A
c.604C>A (p.Leu202Ile)
c.376C>A (p.Leu126Ile)
c.589C>A (p.Leu197Ile)
c.400C>A (p.Leu134Ile)
c.601C>A (p.Leu201Ile)
c.487C>A (p.Leu163Ile)
c.319C>A (p.Leu107Ile)
c.572C>A (p.Pro191His)
1g.119033337G>ACA1035238WARS2c.657C>T (p.Ser219=)
c.*23C>T (n.*23C>T)
n.581C>T
c.603C>T (p.Ser201=)
c.375C>T (p.Ser125=)
c.588C>T (p.Ser196=)
c.399C>T (p.Ser133=)
c.600C>T (p.Ser200=)
c.486C>T (p.Ser162=)
c.318C>T (p.Ser106=)
c.571C>T (p.Pro191Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.119033337G>CCA420192923WARS2c.657C>G (p.Ser219=)
c.*23C>G (n.*23C>G)
n.581C>G
c.603C>G (p.Ser201=)
c.375C>G (p.Ser125=)
c.588C>G (p.Ser196=)
c.399C>G (p.Ser133=)
c.600C>G (p.Ser200=)
c.486C>G (p.Ser162=)
c.318C>G (p.Ser106=)
c.571C>G (p.Pro191Ala)
1g.119033337G=CA1192128239WARS2c.657C= (p.Ser219=)
c.*23C= (n.*23C=)
n.581C=
c.603C= (p.Ser201=)
c.375C= (p.Ser125=)
c.588C= (p.Ser196=)
c.399C= (p.Ser133=)
c.600C= (p.Ser200=)
c.486C= (p.Ser162=)
c.318C= (p.Ser106=)
c.571C= (p.Pro191=)
1g.119033337G>TCA420192924WARS2c.657C>A (p.Ser219=)
c.*23C>A (n.*23C>A)
n.581C>A
c.603C>A (p.Ser201=)
c.375C>A (p.Ser125=)
c.588C>A (p.Ser196=)
c.399C>A (p.Ser133=)
c.600C>A (p.Ser200=)
c.486C>A (p.Ser162=)
c.318C>A (p.Ser106=)
c.571C>A (p.Pro191Thr)
1g.119033338G>ACA341436902WARS2c.656C>T (p.Ser219Phe)
c.*22C>T (n.*22C>T)
n.580C>T
c.602C>T (p.Ser201Phe)
c.374C>T (p.Ser125Phe)
c.587C>T (p.Ser196Phe)
c.398C>T (p.Ser133Phe)
c.599C>T (p.Ser200Phe)
c.485C>T (p.Ser162Phe)
c.317C>T (p.Ser106Phe)
c.570C>T (p.Ile190=)
COSMIC
1g.119033338G>CCA341436903WARS2c.656C>G (p.Ser219Cys)
c.*22C>G (n.*22C>G)
n.580C>G
c.602C>G (p.Ser201Cys)
c.374C>G (p.Ser125Cys)
c.587C>G (p.Ser196Cys)
c.398C>G (p.Ser133Cys)
c.599C>G (p.Ser200Cys)
c.485C>G (p.Ser162Cys)
c.317C>G (p.Ser106Cys)
c.570C>G (p.Ile190Met)
1g.119033338G=CA1192128240WARS2c.656C= (p.Ser219=)
c.*22C= (n.*22C=)
n.580C=
c.602C= (p.Ser201=)
c.374C= (p.Ser125=)
c.587C= (p.Ser196=)
c.398C= (p.Ser133=)
c.599C= (p.Ser200=)
c.485C= (p.Ser162=)
c.317C= (p.Ser106=)
c.570C= (p.Ile190=)
1g.119033338G>TCA341436904WARS2c.656C>A (p.Ser219Tyr)
c.*22C>A (n.*22C>A)
n.580C>A
c.602C>A (p.Ser201Tyr)
c.374C>A (p.Ser125Tyr)
c.587C>A (p.Ser196Tyr)
c.398C>A (p.Ser133Tyr)
c.599C>A (p.Ser200Tyr)
c.485C>A (p.Ser162Tyr)
c.317C>A (p.Ser106Tyr)
c.570C>A (p.Ile190=)
dbSNP gnomAD v2 gnomAD v4
1g.119033339A>CCA341436905WARS2c.655T>G (p.Ser219Ala)
c.*21T>G (n.*21T>G)
n.579T>G
c.601T>G (p.Ser201Ala)
c.373T>G (p.Ser125Ala)
c.586T>G (p.Ser196Ala)
c.397T>G (p.Ser133Ala)
c.598T>G (p.Ser200Ala)
c.484T>G (p.Ser162Ala)
c.316T>G (p.Ser106Ala)
c.569T>G (p.Ile190Ser)
1g.119033339A>GCA341436906WARS2c.655T>C (p.Ser219Pro)
c.*21T>C (n.*21T>C)
n.579T>C
c.601T>C (p.Ser201Pro)
c.373T>C (p.Ser125Pro)
c.586T>C (p.Ser196Pro)
c.397T>C (p.Ser133Pro)
c.598T>C (p.Ser200Pro)
c.484T>C (p.Ser162Pro)
c.316T>C (p.Ser106Pro)
c.569T>C (p.Ile190Thr)
1g.119033339A>TCA341436907WARS2c.655T>A (p.Ser219Thr)
c.*21T>A (n.*21T>A)
n.579T>A
c.601T>A (p.Ser201Thr)
c.373T>A (p.Ser125Thr)
c.586T>A (p.Ser196Thr)
c.397T>A (p.Ser133Thr)
c.598T>A (p.Ser200Thr)
c.484T>A (p.Ser162Thr)
c.316T>A (p.Ser106Thr)
c.569T>A (p.Ile190Asn)
1g.119033339_119033342delCA2647370037WARS2c.652_655del (p.Lys218ProfsTer22)
c.*18_*21del (n.*18_*21del)
n.576_579del
c.598_601del (p.Lys200ProfsTer22)
c.370_373del (p.Lys124ProfsTer22)
c.583_586del (p.Lys195ProfsTer22)
c.394_397del (p.Lys132ProfsTer22)
c.595_598del (p.Lys199ProfsTer22)
c.481_484del (p.Lys161ProfsTer22)
c.313_316del (p.Lys105ProfsTer22)
c.566_569del (p.Lys189ThrfsTer?)
gnomAD v4
1g.119033340T>ACA341436908WARS2c.654A>T (p.Lys218Asn)
c.*20A>T (n.*20A>T)
n.578A>T
c.600A>T (p.Lys200Asn)
c.372A>T (p.Lys124Asn)
c.585A>T (p.Lys195Asn)
c.396A>T (p.Lys132Asn)
c.597A>T (p.Lys199Asn)
c.483A>T (p.Lys161Asn)
c.315A>T (p.Lys105Asn)
c.568A>T (p.Ile190Phe)
1g.119033340T>CCA420192928WARS2c.654A>G (p.Lys218=)
c.*20A>G (n.*20A>G)
n.578A>G
c.600A>G (p.Lys200=)
c.372A>G (p.Lys124=)
c.585A>G (p.Lys195=)
c.396A>G (p.Lys132=)
c.597A>G (p.Lys199=)
c.483A>G (p.Lys161=)
c.315A>G (p.Lys105=)
c.568A>G (p.Ile190Val)
1g.119033340T>GCA341436909WARS2c.654A>C (p.Lys218Asn)
c.*20A>C (n.*20A>C)
n.578A>C
c.600A>C (p.Lys200Asn)
c.372A>C (p.Lys124Asn)
c.585A>C (p.Lys195Asn)
c.396A>C (p.Lys132Asn)
c.597A>C (p.Lys199Asn)
c.483A>C (p.Lys161Asn)
c.315A>C (p.Lys105Asn)
c.568A>C (p.Ile190Leu)

Number of alleles fetched