Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.119033240G>A | CA1035226 | WARS2 | c.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 |
1 | g.119033240G>C | CA341436690 | WARS2 | c.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) | |
1 | g.119033240G= | CA1142315716 | WARS2 | c.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=) | |
1 | g.119033240G>T | CA341436689 | WARS2 | c.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) | |
1 | g.119033241G>A | CA420192785 | WARS2 | c.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 |
1 | g.119033241G>C | CA341436691 | WARS2 | c.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) | |
1 | g.119033241G= | CA1192128210 | WARS2 | c.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=) | |
1 | g.119033241G>T | CA30376565 | WARS2 | c.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 |
1 | g.119033242A>C | CA341436692 | WARS2 | c.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) | |
1 | g.119033242A>G | CA341436693 | WARS2 | c.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) | |
1 | g.119033242A>T | CA341436694 | WARS2 | c.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) | |
1 | g.119033243A= | CA1192128211 | WARS2 | c.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=) | |
1 | g.119033243A>C | CA341436695 | WARS2 | c.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) | |
1 | g.119033243A>G | CA341436696 | WARS2 | c.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 |
1 | g.119033243A>T | CA341436697 | WARS2 | c.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 |
1 | g.119033244T>A | CA341436698 | WARS2 | c.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) | |
1 | g.119033244T>C | CA420192792 | WARS2 | c.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) | |
1 | g.119033244T>G | CA341436699 | WARS2 | c.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) | |
1 | g.119033246del | CA2647370036 | WARS2 | c.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 |
1 | g.119033245T>A | CA341436700 | WARS2 | c.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) | |
1 | g.119033245T>C | CA341436701 | WARS2 | c.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) | |
1 | g.119033245T>G | CA341436702 | WARS2 | c.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) | |
1 | g.119033246T>A | CA341436705 | WARS2 | c.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) | |
1 | g.119033246T>C | CA341436703 | WARS2 | c.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) | |
1 | g.119033246T>G | CA341436704 | WARS2 | c.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) | |
1 | g.119033247C>A | CA341436706 | WARS2 | c.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) | |
1 | g.119033247C= | CA1192128212 | WARS2 | c.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=) | |
1 | g.119033247C>G | CA341436707 | WARS2 | c.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) | |
1 | g.119033247C>T | CA420192799 | WARS2 | c.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 |
1 | g.119033248T>A | CA341436708 | WARS2 | c.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) | |
1 | g.119033248T>C | CA341436709 | WARS2 | c.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) | |
1 | g.119033248T>G | CA341436710 | WARS2 | c.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) | |
1 | g.119033249G>A | CA341436711 | WARS2 | c.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 |
1 | g.119033249G>C | CA341436712 | WARS2 | c.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) | |
1 | g.119033249G>T | CA341436713 | WARS2 | c.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) | |
1 | g.119033250C>A | CA420192804 | WARS2 | c.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) | |
1 | g.119033250C= | CA1192128213 | WARS2 | c.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=) | |
1 | g.119033250C>G | CA420192806 | WARS2 | c.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) | |
1 | g.119033250C>T | CA1035227 | WARS2 | c.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 |
1 | g.119033251A= | CA1192128214 | WARS2 | c.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=) | |
1 | g.119033251A>C | CA341436714 | WARS2 | c.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) | |
1 | g.119033251A>G | CA341436715 | WARS2 | c.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 |
1 | g.119033251A>T | CA341436716 | WARS2 | c.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) | |
1 | g.119033252C>A | CA341436718 | WARS2 | c.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) | |
1 | g.119033252C>G | CA341436719 | WARS2 | c.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) | |
1 | g.119033252C>T | CA341436717 | WARS2 | c.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) | |
1 | g.119033253T>A | CA420192810 | WARS2 | c.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 |
1 | g.119033253T>C | CA341436720 | WARS2 | c.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) | |
1 | g.119033253T>G | CA420192812 | WARS2 | c.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) | |
1 | g.119033253T= | CA1192128215 | WARS2 | c.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=) | |
1 | g.119033254A>C | CA341436721 | WARS2 | c.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) | |
1 | g.119033254A>G | CA341436722 | WARS2 | c.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 |
1 | g.119033254A>T | CA341436723 | WARS2 | c.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) | |
1 | g.119033255T>A | CA341436724 | WARS2 | c.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 |
1 | g.119033255T>C | CA341436725 | WARS2 | c.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 |
1 | g.119033255T>G | CA341436726 | WARS2 | c.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) | |
1 | g.119033256C>A | CA341436727 | WARS2 | c.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 |
1 | g.119033256C= | CA1192128216 | WARS2 | c.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=) | |
1 | g.119033256C>G | CA341436728 | WARS2 | c.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 |
1 | g.119033256C>T | CA420192819 | WARS2 | c.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 |
1 | g.119033257T>A | CA341436729 | WARS2 | c.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) | |
1 | g.119033257T>C | CA341436730 | WARS2 | c.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) | |
1 | g.119033257T>G | CA341436731 | WARS2 | c.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) | |
1 | g.119033258C>A | CA341436732 | WARS2 | c.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) | |
1 | g.119033258C= | CA1148399470 | WARS2 | c.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=) | |
1 | g.119033258C>G | CA30376566 | WARS2 | c.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 |
1 | g.119033258C>T | CA341436733 | WARS2 | c.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 |
1 | g.119033259C>A | CA341436735 | WARS2 | c.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) | |
1 | g.119033259C= | CA1192128217 | WARS2 | c.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=) | |
1 | g.119033259C>G | CA341436734 | WARS2 | c.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 |
1 | g.119033259C>T | CA420192825 | WARS2 | c.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) | |
1 | g.119033260T>A | CA341436736 | WARS2 | c.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) | |
1 | g.119033260T>C | CA341436737 | WARS2 | c.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) | |
1 | g.119033260T>G | CA341436738 | WARS2 | c.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) | |
1 | g.119033261C>A | CA341436739 | WARS2 | c.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 |
1 | g.119033261C= | CA1192128218 | WARS2 | c.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=) | |
1 | g.119033261C>G | CA341436740 | WARS2 | c.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) | |
1 | g.119033261C>T | CA341436741 | WARS2 | c.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 |
1 | g.119033262T>A | CA420192831 | WARS2 | c.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) | |
1 | g.119033262T>C | CA420192834 | WARS2 | c.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) | |
1 | g.119033262T>G | CA420192833 | WARS2 | c.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) | |
1 | g.119033263G>A | CA341436744 | WARS2 | c.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) | |
1 | g.119033263G>C | CA341436742 | WARS2 | c.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) | |
1 | g.119033263G>T | CA341436743 | WARS2 | c.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) | |
1 | g.119033264G>A | CA1035228 | WARS2 | c.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 |
1 | g.119033264G>C | CA341436745 | WARS2 | c.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 |
1 | g.119033264G= | CA1192128219 | WARS2 | c.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=) | |
1 | g.119033264G>T | CA341436746 | WARS2 | c.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) | |
1 | g.119033265G>A | CA420192840 | WARS2 | c.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 |
1 | g.119033265G>C | CA341436747 | WARS2 | c.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) | |
1 | g.119033265G>T | CA341436748 | WARS2 | c.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) | |
1 | g.119033265_119033269delinsGCTGT | CA1192128220 | WARS2 | c.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) | |
1 | g.119033266C>A | CA341436751 | WARS2 | c.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) | |
1 | g.119033266C>G | CA341436749 | WARS2 | c.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) | |
1 | g.119033266C>T | CA341436750 | WARS2 | c.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) | |
1 | g.119033270_119033273del | CA1006274341 | WARS2 | c.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 |
1 | g.119033267T>A | CA341436752 | WARS2 | c.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) | |
1 | g.119033267T>C | CA341436753 | WARS2 | c.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) | |
1 | g.119033267T>G | CA341436754 | WARS2 | c.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) | |
1 | g.119033268G>A | CA420192846 | WARS2 | c.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) | |
1 | g.119033268G>C | CA341436755 | WARS2 | c.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) | |
1 | g.119033268G>T | CA341436756 | WARS2 | c.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) | |
1 | g.119033269T>A | CA341436759 | WARS2 | c.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) | |
1 | g.119033269T>C | CA341436758 | WARS2 | c.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) | |
1 | g.119033269T>G | CA341436757 | WARS2 | c.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) | |
1 | g.119033270C>A | CA341436760 | WARS2 | c.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) | |
1 | g.119033270C>G | CA341436761 | WARS2 | c.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) | |
1 | g.119033270C>T | CA341436762 | WARS2 | c.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) | |
1 | g.119033271T>A | CA420192852 | WARS2 | c.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 |
1 | g.119033271T>C | CA420192850 | WARS2 | c.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) | |
1 | g.119033271T>G | CA420192849 | WARS2 | c.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) | |
1 | g.119033272G>A | CA341436763 | WARS2 | c.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 |
1 | g.119033272G>C | CA341436764 | WARS2 | c.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 |
1 | g.119033272G= | CA1192128221 | WARS2 | c.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=) | |
1 | g.119033272G>T | CA341436765 | WARS2 | c.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) | |
1 | g.119033273T>A | CA341436768 | WARS2 | c.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) | |
1 | g.119033273T>C | CA341436766 | WARS2 | c.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) | |
1 | g.119033273T>G | CA341436767 | WARS2 | c.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) | |
1 | g.119033274T>A | CA420192857 | WARS2 | c.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) | |
1 | g.119033274T>C | CA341436769 | WARS2 | c.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) | |
1 | g.119033274T>G | CA420192858 | WARS2 | c.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) | |
1 | g.119033275A>C | CA341436770 | WARS2 | c.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) | |
1 | g.119033275A>G | CA341436771 | WARS2 | c.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) | |
1 | g.119033275A>T | CA341436772 | WARS2 | c.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) | |
1 | g.119033276T>A | CA341436773 | WARS2 | c.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) | |
1 | g.119033276T>C | CA341436774 | WARS2 | c.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 |
1 | g.119033276T>G | CA341436775 | WARS2 | c.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) | |
1 | g.119033276T= | CA1192128222 | WARS2 | c.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=) | |
1 | g.119033277T>A | CA420192862 | WARS2 | c.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) | |
1 | g.119033277T>C | CA420192863 | WARS2 | c.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) | |
1 | g.119033277T>G | CA420192864 | WARS2 | c.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) | |
1 | g.119033278C>A | CA341436776 | WARS2 | c.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 |
1 | g.119033278C= | CA1192128223 | WARS2 | c.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=) | |
1 | g.119033278C>G | CA341436777 | WARS2 | c.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) | |
1 | g.119033278C>T | CA1035229 | WARS2 | c.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 |
1 | g.119033279G>A | CA354947 | WARS2 | c.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 |
1 | g.119033279G>C | CA341436778 | WARS2 | c.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) | |
1 | g.119033279G= | CA1192128224 | WARS2 | c.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=) | |
1 | g.119033279G>T | CA420192865 | WARS2 | c.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) | |
1 | g.119033280G>A | CA420192866 | WARS2 | c.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) | |
1 | g.119033280G>C | CA420192867 | WARS2 | c.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) | |
1 | g.119033280G>T | CA420192868 | WARS2 | c.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) | |
1 | g.119033281A>C | CA341436779 | WARS2 | c.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) | |
1 | g.119033281A>G | CA341436781 | WARS2 | c.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) | |
1 | g.119033281A>T | CA341436780 | WARS2 | c.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) | |
1 | g.119033282C>A | CA341436782 | WARS2 | c.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 |
1 | g.119033282C= | CA1192128225 | WARS2 | c.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=) | |
1 | g.119033282C>G | CA341436784 | WARS2 | c.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) | |
1 | g.119033282C>T | CA341436783 | WARS2 | c.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 |
1 | g.119033283G>A | CA420192870 | WARS2 | c.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 |
1 | g.119033283G>C | CA420192871 | WARS2 | c.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) | |
1 | g.119033283G= | CA1192128226 | WARS2 | c.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=) | |
1 | g.119033283G>T | CA420192872 | WARS2 | c.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) | |
1 | g.119033284G>A | CA341436785 | WARS2 | c.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) | |
1 | g.119033284G>C | CA341436786 | WARS2 | c.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) | |
1 | g.119033284G>T | CA341436787 | WARS2 | c.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) | |
1 | g.119033285T>A | CA341436788 | WARS2 | c.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) | |
1 | g.119033285T>C | CA341436789 | WARS2 | c.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) | |
1 | g.119033285T>G | CA341436790 | WARS2 | c.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) | |
1 | g.119033286G>A | CA420192875 | WARS2 | c.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) | |
1 | g.119033286G>C | CA420192877 | WARS2 | c.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) | |
1 | g.119033286G>T | CA420192878 | WARS2 | c.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) | |
1 | g.119033287G>A | CA341436791 | WARS2 | c.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 |
1 | g.119033287G>C | CA341436792 | WARS2 | c.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) | |
1 | g.119033287G= | CA1192128227 | WARS2 | c.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=) | |
1 | g.119033287G>T | CA1035230 | WARS2 | c.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 |
1 | g.119033288C>A | CA341436793 | WARS2 | c.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 |
1 | g.119033288C>G | CA341436794 | WARS2 | c.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) | |
1 | g.119033288C>T | CA341436795 | WARS2 | c.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) | |
1 | g.119033289C>A | CA420192881 | WARS2 | c.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) | |
1 | g.119033289C>G | CA420192882 | WARS2 | c.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) | |
1 | g.119033289C>T | CA420192883 | WARS2 | c.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 |
1 | g.119033290A= | CA1192128228 | WARS2 | c.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=) | |
1 | g.119033290A>C | CA341436796 | WARS2 | c.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) | |
1 | g.119033290A>G | CA341436798 | WARS2 | c.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 |
1 | g.119033290A>T | CA341436797 | WARS2 | c.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 |
1 | g.119033291G>A | CA420192884 | WARS2 | c.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) | |
1 | g.119033291G>C | CA341436799 | WARS2 | c.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) | |
1 | g.119033291G>T | CA341436800 | WARS2 | c.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 |
1 | g.119033292T>A | CA341436801 | WARS2 | c.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) | |
1 | g.119033292T>C | CA420192886 | WARS2 | c.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) | |
1 | g.119033292T>G | CA341436802 | WARS2 | c.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) | |
1 | g.119033293T>A | CA341436803 | WARS2 | c.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) | |
1 | g.119033293T>C | CA341436804 | WARS2 | c.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) | |
1 | g.119033293T>G | CA341436805 | WARS2 | c.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) | |
1 | g.119033294T>A | CA341436806 | WARS2 | c.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) | |
1 | g.119033294T>C | CA341436807 | WARS2 | c.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) | |
1 | g.119033294T>G | CA341436808 | WARS2 | c.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) | |
1 | g.119033295G>A | CA420192889 | WARS2 | c.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) | |
1 | g.119033295G>C | CA341436810 | WARS2 | c.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) | |
1 | g.119033295G>T | CA341436809 | WARS2 | c.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) | |
1 | g.119033296T>A | CA341436811 | WARS2 | c.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) | |
1 | g.119033296T>C | CA341436812 | WARS2 | c.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) | |
1 | g.119033296T>G | CA341436813 | WARS2 | c.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) | |
1 | g.119033297C>A | CA341436814 | WARS2 | c.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) | |
1 | g.119033297C>G | CA341436815 | WARS2 | c.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) | |
1 | g.119033297C>T | CA341436816 | WARS2 | c.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) | |
1 | g.119033298A>C | CA420192892 | WARS2 | c.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) | |
1 | g.119033298A>G | CA420192893 | WARS2 | c.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) | |
1 | g.119033298A>T | CA420192894 | WARS2 | c.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) | |
1 | g.119033299G>A | CA341436819 | WARS2 | c.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) | |
1 | g.119033299G>C | CA341436817 | WARS2 | c.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 |
1 | g.119033299G>T | CA341436818 | WARS2 | c.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) | |
1 | g.119033300G>A | CA341436820 | WARS2 | c.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) | |
1 | g.119033300G>C | CA341436821 | WARS2 | c.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 |
1 | g.119033300G= | CA1192128229 | WARS2 | c.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=) | |
1 | g.119033300G>T | CA1035231 | WARS2 | c.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 |
1 | g.119033301G>A | CA420192896 | WARS2 | c.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) | |
1 | g.119033301G>C | CA341436822 | WARS2 | c.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) | |
1 | g.119033301G= | CA1192128230 | WARS2 | c.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=) | |
1 | g.119033301G>T | CA341436823 | WARS2 | c.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 |
1 | g.119033302T>A | CA341436824 | WARS2 | c.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) | |
1 | g.119033302T>C | CA341436826 | WARS2 | c.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) | |
1 | g.119033302T>G | CA341436825 | WARS2 | c.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) | |
1 | g.119033303C>A | CA341436827 | WARS2 | c.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) | |
1 | g.119033303C>G | CA341436828 | WARS2 | c.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) | |
1 | g.119033303C>T | CA341436829 | WARS2 | c.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) | |
1 | g.119033304T>A | CA420192897 | WARS2 | c.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) | |
1 | g.119033304T>C | CA1035232 | WARS2 | c.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 |
1 | g.119033304T>G | CA420192898 | WARS2 | c.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) | |
1 | g.119033304T= | CA1192128231 | WARS2 | c.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=) | |
1 | g.119033305G>A | CA341436830 | WARS2 | c.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) | |
1 | g.119033305G>C | CA341436831 | WARS2 | c.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) | |
1 | g.119033305G>T | CA341436832 | WARS2 | c.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) | |
1 | g.119033306A>C | CA341436833 | WARS2 | c.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) | |
1 | g.119033306A>G | CA341436834 | WARS2 | c.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) | |
1 | g.119033306A>T | CA341436835 | WARS2 | c.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) | |
1 | g.119033307T>A | CA341436836 | WARS2 | c.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) | |
1 | g.119033307T>C | CA420192899 | WARS2 | c.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 |
1 | g.119033307T>G | CA341436837 | WARS2 | c.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 |
1 | g.119033307T= | CA1192128232 | WARS2 | c.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=) | |
1 | g.119033310_119033318del | CA2580060883 | WARS2 | c.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 |
1 | g.119033308T>A | CA341436840 | WARS2 | c.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) | |
1 | g.119033308T>C | CA341436839 | WARS2 | c.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) | |
1 | g.119033308T>G | CA341436838 | WARS2 | c.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) | |
1 | g.119033309T>A | CA341436842 | WARS2 | c.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) | |
1 | g.119033309T>C | CA341436841 | WARS2 | c.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) | |
1 | g.119033309T>G | CA341436843 | WARS2 | c.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) | |
1 | g.119033310C>A | CA420192900 | WARS2 | c.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) | |
1 | g.119033310C= | CA1141045839 | WARS2 | c.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=) | |
1 | g.119033310C>G | CA420192901 | WARS2 | c.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) | |
1 | g.119033310C>T | CA1035233 | WARS2 | c.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 |
1 | g.119033311G>A | CA341436846 | WARS2 | c.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) | |
1 | g.119033311G>C | CA341436844 | WARS2 | c.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 |
1 | g.119033311G= | CA1192128233 | WARS2 | c.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=) | |
1 | g.119033311G>T | CA341436845 | WARS2 | c.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) | |
1 | g.119033312A>C | CA341436847 | WARS2 | c.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) | |
1 | g.119033312A>G | CA341436848 | WARS2 | c.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) | |
1 | g.119033312A>T | CA341436849 | WARS2 | c.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) | |
1 | g.119033313C>A | CA341436850 | WARS2 | c.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) | |
1 | g.119033313C>G | CA341436851 | WARS2 | c.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) | |
1 | g.119033313C>T | CA341436852 | WARS2 | c.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) | |
1 | g.119033314A>C | CA341436853 | WARS2 | c.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) | |
1 | g.119033314A>G | CA341436854 | WARS2 | c.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 |
1 | g.119033314A>T | CA341436855 | WARS2 | c.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) | |
1 | g.119033315T>A | CA341436858 | WARS2 | c.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) | |
1 | g.119033315T>C | CA341436857 | WARS2 | c.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) | |
1 | g.119033315T>G | CA341436856 | WARS2 | c.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) | |
1 | g.119033316T>A | CA341436859 | WARS2 | c.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) | |
1 | g.119033316T>C | CA420192902 | WARS2 | c.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) | |
1 | g.119033316T>G | CA341436860 | WARS2 | c.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) | |
1 | g.119033317T>A | CA341436861 | WARS2 | c.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) | |
1 | g.119033317T>C | CA341436862 | WARS2 | c.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) | |
1 | g.119033317T>G | CA341436863 | WARS2 | c.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) | |
1 | g.119033318T>A | CA341436864 | WARS2 | c.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) | |
1 | g.119033318T>C | CA341436865 | WARS2 | c.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) | |
1 | g.119033318T>G | CA341436866 | WARS2 | c.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) | |
1 | g.119033319G>A | CA1035234 | WARS2 | c.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 |
1 | g.119033319G>C | CA420192903 | WARS2 | c.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) | |
1 | g.119033319G= | CA1149111057 | WARS2 | c.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=) | |
1 | g.119033319G>T | CA420192904 | WARS2 | c.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) | |
1 | g.119033320G>A | CA341436867 | WARS2 | c.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 |
1 | g.119033320G>C | CA341436868 | WARS2 | c.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 |
1 | g.119033320G>T | CA341436869 | WARS2 | c.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) | |
1 | g.119033321C>A | CA341436872 | WARS2 | c.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) | |
1 | g.119033321C>G | CA341436871 | WARS2 | c.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) | |
1 | g.119033321C>T | CA341436870 | WARS2 | c.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) | |
1 | g.119033322A>C | CA420192905 | WARS2 | c.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) | |
1 | g.119033322A>G | CA420192907 | WARS2 | c.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) | |
1 | g.119033322A>T | CA420192906 | WARS2 | c.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) | |
1 | g.119033323G>A | CA341436873 | WARS2 | c.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 |
1 | g.119033323G>C | CA341436874 | WARS2 | c.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) | |
1 | g.119033323G>T | CA341436875 | WARS2 | c.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) | |
1 | g.119033324A>C | CA341436876 | WARS2 | c.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) | |
1 | g.119033324A>G | CA341436877 | WARS2 | c.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) | |
1 | g.119033324A>T | CA341436878 | WARS2 | c.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) | |
1 | g.119033325A>C | CA420192908 | WARS2 | c.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) | |
1 | g.119033325A>G | CA420192910 | WARS2 | c.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) | |
1 | g.119033325A>T | CA420192911 | WARS2 | c.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) | |
1 | g.119033326G>A | CA1035235 | WARS2 | c.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 |
1 | g.119033326G>C | CA341436879 | WARS2 | c.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) | |
1 | g.119033326G= | CA1192128234 | WARS2 | c.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=) | |
1 | g.119033326G>T | CA341436880 | WARS2 | c.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) | |
1 | g.119033327G>A | CA341436881 | WARS2 | c.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) | |
1 | g.119033327G>C | CA341436882 | WARS2 | c.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 |
1 | g.119033327G= | CA1192128235 | WARS2 | c.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=) | |
1 | g.119033327G>T | CA341436883 | WARS2 | c.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) | |
1 | g.119033328A>C | CA341436885 | WARS2 | c.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) | |
1 | g.119033328A>G | CA420192913 | WARS2 | c.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) | |
1 | g.119033328A>T | CA341436884 | WARS2 | c.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) | |
1 | g.119033329T>A | CA341436886 | WARS2 | c.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) | |
1 | g.119033329T>C | CA341436887 | WARS2 | c.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 |
1 | g.119033329T>G | CA341436888 | WARS2 | c.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) | |
1 | g.119033329T= | CA1192128236 | WARS2 | c.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=) | |
1 | g.119033330C>A | CA341436889 | WARS2 | c.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) | |
1 | g.119033330C>G | CA341436890 | WARS2 | c.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) | |
1 | g.119033330C>T | CA341436891 | WARS2 | c.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=) | |
1 | g.119033331A= | CA1192128237 | WARS2 | c.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=) | |
1 | g.119033331A>C | CA420192917 | WARS2 | c.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) | |
1 | g.119033331A>G | CA420192918 | WARS2 | c.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) | |
1 | g.119033331A>T | CA30376567 | WARS2 | c.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 |
1 | g.119033332C>A | CA341436892 | WARS2 | c.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=) | |
1 | g.119033332C>G | CA341436893 | WARS2 | c.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=) | |
1 | g.119033332C>T | CA341436894 | WARS2 | c.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 |
1 | g.119033333G>A | CA1035236 | WARS2 | c.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 |
1 | g.119033333G>C | CA341436895 | WARS2 | c.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) | |
1 | g.119033333G= | CA1192128238 | WARS2 | c.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=) | |
1 | g.119033333G>T | CA341436896 | WARS2 | c.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) | |
1 | g.119033334T>A | CA420192920 | WARS2 | c.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 |
1 | g.119033334T>C | CA1035237 | WARS2 | c.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 |
1 | g.119033334T>G | CA420192919 | WARS2 | c.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) | |
1 | g.119033334T= | CA1147116239 | WARS2 | c.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=) | |
1 | g.119033335A>C | CA341436898 | WARS2 | c.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=) | |
1 | g.119033335A>G | CA341436899 | WARS2 | c.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=) | |
1 | g.119033335A>T | CA341436897 | WARS2 | c.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=) | |
1 | g.119033336G>A | CA420192921 | WARS2 | c.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) | |
1 | g.119033336G>C | CA341436901 | WARS2 | c.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) | |
1 | g.119033336G>T | CA341436900 | WARS2 | c.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) | |
1 | g.119033337G>A | CA1035238 | WARS2 | c.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 |
1 | g.119033337G>C | CA420192923 | WARS2 | c.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) | |
1 | g.119033337G= | CA1192128239 | WARS2 | c.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=) | |
1 | g.119033337G>T | CA420192924 | WARS2 | c.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) | |
1 | g.119033338G>A | CA341436902 | WARS2 | c.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 |
1 | g.119033338G>C | CA341436903 | WARS2 | c.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) | |
1 | g.119033338G= | CA1192128240 | WARS2 | c.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=) | |
1 | g.119033338G>T | CA341436904 | WARS2 | c.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 |
1 | g.119033339A>C | CA341436905 | WARS2 | c.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) | |
1 | g.119033339A>G | CA341436906 | WARS2 | c.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) | |
1 | g.119033339A>T | CA341436907 | WARS2 | c.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) | |
1 | g.119033339_119033342del | CA2647370037 | WARS2 | c.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 |
1 | g.119033340T>A | CA341436908 | WARS2 | c.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) | |
1 | g.119033340T>C | CA420192928 | WARS2 | c.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) | |
1 | g.119033340T>G | CA341436909 | WARS2 | c.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) |