Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99870452G>ACA419096405AGLc.717G>A (p.Val239=)
n.928G>A
c.669G>A (p.Val223=)
c.666G>A (p.Val222=)
1g.99870452G>CCA419096406AGLc.717G>C (p.Val239=)
n.928G>C
c.669G>C (p.Val223=)
c.666G>C (p.Val222=)
1g.99870452G>TCA419096407AGLc.717G>T (p.Val239=)
n.928G>T
c.669G>T (p.Val223=)
c.666G>T (p.Val222=)
 gnomAD v4
1g.99870453A>CCA341339455AGLc.718A>C (p.Asn240His)
n.929A>C
c.670A>C (p.Asn224His)
c.667A>C (p.Asn223His)
1g.99870453A>GCA341339456AGLc.718A>G (p.Asn240Asp)
n.929A>G
c.670A>G (p.Asn224Asp)
c.667A>G (p.Asn223Asp)
1g.99870453A>TCA341339457AGLc.718A>T (p.Asn240Tyr)
n.929A>T
c.670A>T (p.Asn224Tyr)
c.667A>T (p.Asn223Tyr)
1g.99870453_99870465delCA2744755502AGLc.718_730del (p.Asn240Ter)
n.929_941del
c.670_682del (p.Asn224Ter)
c.667_679del (p.Asn223Ter)
1g.99870454A=CA1183923060AGLc.719A= (p.Asn240=)
n.930A=
c.671A= (p.Asn224=)
c.668A= (p.Asn223=)
1g.99870454A>CCA341339461AGLc.719A>C (p.Asn240Thr)
n.930A>C
c.671A>C (p.Asn224Thr)
c.668A>C (p.Asn223Thr)
1g.99870454A>GCA341339463AGLc.719A>G (p.Asn240Ser)
n.930A>G
c.671A>G (p.Asn224Ser)
c.668A>G (p.Asn223Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99870454A>TCA341339468AGLc.719A>T (p.Asn240Ile)
n.930A>T
c.671A>T (p.Asn224Ile)
c.668A>T (p.Asn223Ile)
1g.99870455T>ACA341339480AGLc.720T>A (p.Asn240Lys)
n.931T>A
c.672T>A (p.Asn224Lys)
c.669T>A (p.Asn223Lys)
1g.99870455T>CCA966252AGLc.720T>C (p.Asn240=)
n.931T>C
c.672T>C (p.Asn224=)
c.669T>C (p.Asn223=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870455T>GCA341339478AGLc.720T>G (p.Asn240Lys)
n.931T>G
c.672T>G (p.Asn224Lys)
c.669T>G (p.Asn223Lys)
1g.99870455T=CA1183923065AGLc.720T= (p.Asn240=)
n.931T=
c.672T= (p.Asn224=)
c.669T= (p.Asn223=)
1g.99870456T>ACA341339489AGLc.721T>A (p.Ser241Thr)
n.932T>A
c.673T>A (p.Ser225Thr)
c.670T>A (p.Ser224Thr)
1g.99870456T>CCA341339492AGLc.721T>C (p.Ser241Pro)
n.932T>C
c.673T>C (p.Ser225Pro)
c.670T>C (p.Ser224Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.99870456T>GCA341339494AGLc.721T>G (p.Ser241Ala)
n.932T>G
c.673T>G (p.Ser225Ala)
c.670T>G (p.Ser224Ala)
1g.99870456T=CA1183923069AGLc.721T= (p.Ser241=)
n.932T=
c.673T= (p.Ser225=)
c.670T= (p.Ser224=)
1g.99870457C>ACA341339499AGLc.722C>A (p.Ser241Tyr)
n.933C>A
c.674C>A (p.Ser225Tyr)
c.671C>A (p.Ser224Tyr)
 ClinVar dbSNP COSMIC COSMIC
1g.99870457C>GCA341339502AGLc.722C>G (p.Ser241Cys)
n.933C>G
c.674C>G (p.Ser225Cys)
c.671C>G (p.Ser224Cys)
1g.99870457C>TCA341339505AGLc.722C>T (p.Ser241Phe)
n.933C>T
c.674C>T (p.Ser225Phe)
c.671C>T (p.Ser224Phe)
1g.99870458T>ACA419096408AGLc.723T>A (p.Ser241=)
n.934T>A
c.675T>A (p.Ser225=)
c.672T>A (p.Ser224=)
1g.99870458T>CCA419096410AGLc.723T>C (p.Ser241=)
n.934T>C
c.675T>C (p.Ser225=)
c.672T>C (p.Ser224=)
1g.99870458T>GCA419096409AGLc.723T>G (p.Ser241=)
n.934T>G
c.675T>G (p.Ser225=)
c.672T>G (p.Ser224=)
1g.99870459C>ACA341339509AGLc.724C>A (p.Pro242Thr)
n.935C>A
c.676C>A (p.Pro226Thr)
c.673C>A (p.Pro225Thr)
1g.99870459C=CA1144452612AGLc.724C= (p.Pro242=)
n.935C=
c.676C= (p.Pro226=)
c.673C= (p.Pro225=)
1g.99870459C>GCA966253AGLc.724C>G (p.Pro242Ala)
n.935C>G
c.676C>G (p.Pro226Ala)
c.673C>G (p.Pro225Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870459C>TCA341339515AGLc.724C>T (p.Pro242Ser)
n.935C>T
c.676C>T (p.Pro226Ser)
c.673C>T (p.Pro225Ser)
 ClinVar dbSNP
1g.99870460C>ACA341339520AGLc.725C>A (p.Pro242Gln)
n.936C>A
c.677C>A (p.Pro226Gln)
c.674C>A (p.Pro225Gln)
1g.99870460C>GCA341339523AGLc.725C>G (p.Pro242Arg)
n.936C>G
c.677C>G (p.Pro226Arg)
c.674C>G (p.Pro225Arg)
1g.99870460C>TCA341339525AGLc.725C>T (p.Pro242Leu)
n.936C>T
c.677C>T (p.Pro226Leu)
c.674C>T (p.Pro225Leu)
1g.99870461A>CCA419096411AGLc.726A>C (p.Pro242=)
n.937A>C
c.678A>C (p.Pro226=)
c.675A>C (p.Pro225=)
1g.99870461A>GCA419096412AGLc.726A>G (p.Pro242=)
n.937A>G
c.678A>G (p.Pro226=)
c.675A>G (p.Pro225=)
 ClinVar
1g.99870461A>TCA419096413AGLc.726A>T (p.Pro242=)
n.937A>T
c.678A>T (p.Pro226=)
c.675A>T (p.Pro225=)
1g.99870462C>ACA341339536AGLc.727C>A (p.His243Asn)
n.938C>A
c.679C>A (p.His227Asn)
c.676C>A (p.His226Asn)
1g.99870462C>GCA341339540AGLc.727C>G (p.His243Asp)
n.938C>G
c.679C>G (p.His227Asp)
c.676C>G (p.His226Asp)
1g.99870462C>TCA341339533AGLc.727C>T (p.His243Tyr)
n.938C>T
c.679C>T (p.His227Tyr)
c.676C>T (p.His226Tyr)
1g.99870463A=CA1183923073AGLc.728A= (p.His243=)
n.939A=
c.680A= (p.His227=)
c.677A= (p.His226=)
1g.99870463A>CCA341339553AGLc.728A>C (p.His243Pro)
n.939A>C
c.680A>C (p.His227Pro)
c.677A>C (p.His226Pro)
1g.99870463A>GCA341339546AGLc.728A>G (p.His243Arg)
n.939A>G
c.680A>G (p.His227Arg)
c.677A>G (p.His226Arg)
 dbSNP
1g.99870463A>TCA341339549AGLc.728A>T (p.His243Leu)
n.939A>T
c.680A>T (p.His227Leu)
c.677A>T (p.His226Leu)
 gnomAD v4
1g.99870464C>ACA341339557AGLc.729C>A (p.His243Gln)
n.940C>A
c.681C>A (p.His227Gln)
c.678C>A (p.His226Gln)
1g.99870464C>GCA341339560AGLc.729C>G (p.His243Gln)
n.940C>G
c.681C>G (p.His227Gln)
c.678C>G (p.His226Gln)
1g.99870464C>TCA419096414AGLc.729C>T (p.His243=)
n.940C>T
c.681C>T (p.His227=)
c.678C>T (p.His226=)
 ClinVar dbSNP gnomAD v4
1g.99870465T>ACA341339565AGLc.730T>A (p.Leu244Ile)
n.941T>A
c.682T>A (p.Leu228Ile)
c.679T>A (p.Leu227Ile)
1g.99870465T>CCA419096415AGLc.730T>C (p.Leu244=)
n.941T>C
c.682T>C (p.Leu228=)
c.679T>C (p.Leu227=)
1g.99870465T>GCA341339568AGLc.730T>G (p.Leu244Val)
n.941T>G
c.682T>G (p.Leu228Val)
c.679T>G (p.Leu227Val)
1g.99870466T>ACA341339580AGLc.731T>A (p.Leu244Ter)
n.942T>A
c.683T>A (p.Leu228Ter)
c.680T>A (p.Leu227Ter)
1g.99870466T>CCA341339572AGLc.731T>C (p.Leu244Ser)
n.942T>C
c.683T>C (p.Leu228Ser)
c.680T>C (p.Leu227Ser)
1g.99870466T>GCA341339575AGLc.731T>G (p.Leu244Ter)
n.942T>G
c.683T>G (p.Leu228Ter)
c.680T>G (p.Leu227Ter)
1g.99870467A>CCA341339584AGLc.732A>C (p.Leu244Phe)
n.943A>C
c.684A>C (p.Leu228Phe)
c.681A>C (p.Leu227Phe)
1g.99870467A>GCA419096416AGLc.732A>G (p.Leu244=)
n.943A>G
c.684A>G (p.Leu228=)
c.681A>G (p.Leu227=)
1g.99870467A>TCA341339589AGLc.732A>T (p.Leu244Phe)
n.943A>T
c.684A>T (p.Leu228Phe)
c.681A>T (p.Leu227Phe)
1g.99870468A>CCA341339593AGLc.733A>C (p.Lys245Gln)
n.944A>C
c.685A>C (p.Lys229Gln)
c.682A>C (p.Lys228Gln)
1g.99870468A>GCA341339596AGLc.733A>G (p.Lys245Glu)
n.944A>G
c.685A>G (p.Lys229Glu)
c.682A>G (p.Lys228Glu)
1g.99870468A>TCA341339599AGLc.733A>T (p.Lys245Ter)
n.944A>T
c.685A>T (p.Lys229Ter)
c.682A>T (p.Lys228Ter)
1g.99870468_99870469insGCA2744755503AGLc.733_734insG (p.Lys245ArgfsTer16)
n.944_945insG
c.685_686insG (p.Lys229ArgfsTer16)
c.682_683insG (p.Lys228ArgfsTer16)
1g.99870469A>CCA341339603AGLc.734A>C (p.Lys245Thr)
n.945A>C
c.686A>C (p.Lys229Thr)
c.683A>C (p.Lys228Thr)
1g.99870469A>GCA341339613AGLc.734A>G (p.Lys245Arg)
n.945A>G
c.686A>G (p.Lys229Arg)
c.683A>G (p.Lys228Arg)
1g.99870469A>TCA341339608AGLc.734A>T (p.Lys245Ile)
n.945A>T
c.686A>T (p.Lys229Ile)
c.683A>T (p.Lys228Ile)
1g.99870470A=CA1183923076AGLc.735A= (p.Lys245=)
n.946A=
c.687A= (p.Lys229=)
c.684A= (p.Lys228=)
1g.99870470A>CCA341339616AGLc.735A>C (p.Lys245Asn)
n.946A>C
c.687A>C (p.Lys229Asn)
c.684A>C (p.Lys228Asn)
1g.99870470A>GCA419096417AGLc.735A>G (p.Lys245=)
n.946A>G
c.687A>G (p.Lys229=)
c.684A>G (p.Lys228=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99870470A>TCA341339618AGLc.735A>T (p.Lys245Asn)
n.946A>T
c.687A>T (p.Lys229Asn)
c.684A>T (p.Lys228Asn)
1g.99870471C>ACA341339621AGLc.736C>A (p.Pro246Thr)
n.947C>A
c.688C>A (p.Pro230Thr)
c.685C>A (p.Pro229Thr)
1g.99870471C=CA1143726803AGLc.736C= (p.Pro246=)
n.947C=
c.688C= (p.Pro230=)
c.685C= (p.Pro229=)
1g.99870471C>GCA966254AGLc.736C>G (p.Pro246Ala)
n.947C>G
c.688C>G (p.Pro230Ala)
c.685C>G (p.Pro229Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870471C>TCA27568678AGLc.736C>T (p.Pro246Ser)
n.947C>T
c.688C>T (p.Pro230Ser)
c.685C>T (p.Pro229Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99870471_99870479delCA2744755504AGLc.736_744del (p.Pro246_Trp248del)
n.947_955del
c.688_696del (p.Pro230_Trp232del)
c.685_693del (p.Pro229_Trp231del)
1g.99870472C>ACA341339630AGLc.737C>A (p.Pro246His)
n.948C>A
c.689C>A (p.Pro230His)
c.686C>A (p.Pro229His)
1g.99870472C>GCA341339633AGLc.737C>G (p.Pro246Arg)
n.948C>G
c.689C>G (p.Pro230Arg)
c.686C>G (p.Pro229Arg)
1g.99870472C>TCA341339636AGLc.737C>T (p.Pro246Leu)
n.948C>T
c.689C>T (p.Pro230Leu)
c.686C>T (p.Pro229Leu)
1g.99870473T>ACA419096418AGLc.738T>A (p.Pro246=)
n.949T>A
c.690T>A (p.Pro230=)
c.687T>A (p.Pro229=)
1g.99870473T>CCA419096419AGLc.738T>C (p.Pro246=)
n.949T>C
c.690T>C (p.Pro230=)
c.687T>C (p.Pro229=)
 ClinVar dbSNP
1g.99870473T>GCA419096420AGLc.738T>G (p.Pro246=)
n.949T>G
c.690T>G (p.Pro230=)
c.687T>G (p.Pro229=)
1g.99870474G>ACA341339641AGLc.739G>A (p.Ala247Thr)
n.950G>A
c.691G>A (p.Ala231Thr)
c.688G>A (p.Ala230Thr)
1g.99870474G>CCA341339643AGLc.739G>C (p.Ala247Pro)
n.950G>C
c.691G>C (p.Ala231Pro)
c.688G>C (p.Ala230Pro)
1g.99870474G=CA1148459915AGLc.739G= (p.Ala247=)
n.950G=
c.691G= (p.Ala231=)
c.688G= (p.Ala230=)
1g.99870474G>TCA966255AGLc.739G>T (p.Ala247Ser)
n.950G>T
c.691G>T (p.Ala231Ser)
c.688G>T (p.Ala230Ser)
 dbSNP ExAC gnomAD v2
1g.99870475C>ACA341339657AGLc.740C>A (p.Ala247Asp)
n.951C>A
c.692C>A (p.Ala231Asp)
c.689C>A (p.Ala230Asp)
1g.99870475C>GCA341339656AGLc.740C>G (p.Ala247Gly)
n.951C>G
c.692C>G (p.Ala231Gly)
c.689C>G (p.Ala230Gly)
1g.99870475C>TCA341339652AGLc.740C>T (p.Ala247Val)
n.951C>T
c.692C>T (p.Ala231Val)
c.689C>T (p.Ala230Val)
1g.99870476dupCA524878443AGLc.741dup (p.Trp248LeufsTer13)
n.952dup
c.693dup (p.Trp232LeufsTer13)
c.690dup (p.Trp231LeufsTer13)
 dbSNP gnomAD v2 gnomAD v4
1g.99870476C>ACA419096421AGLc.741C>A (p.Ala247=)
n.952C>A
c.693C>A (p.Ala231=)
c.690C>A (p.Ala230=)
1g.99870476C>GCA419096423AGLc.741C>G (p.Ala247=)
n.952C>G
c.693C>G (p.Ala231=)
c.690C>G (p.Ala230=)
1g.99870476C>TCA419096422AGLc.741C>T (p.Ala247=)
n.952C>T
c.693C>T (p.Ala231=)
c.690C>T (p.Ala230=)
1g.99870477T>ACA341339663AGLc.742T>A (p.Trp248Arg)
n.953T>A
c.694T>A (p.Trp232Arg)
c.691T>A (p.Trp231Arg)
1g.99870477T>CCA341339671AGLc.742T>C (p.Trp248Arg)
n.953T>C
c.694T>C (p.Trp232Arg)
c.691T>C (p.Trp231Arg)
 ClinVar dbSNP
1g.99870477T>GCA341339667AGLc.742T>G (p.Trp248Gly)
n.953T>G
c.694T>G (p.Trp232Gly)
c.691T>G (p.Trp231Gly)
1g.99870478G>ACA341339675AGLc.743G>A (p.Trp248Ter)
n.954G>A
c.695G>A (p.Trp232Ter)
c.692G>A (p.Trp231Ter)
 ClinVar
1g.99870478G>CCA341339678AGLc.743G>C (p.Trp248Ser)
n.954G>C
c.695G>C (p.Trp232Ser)
c.692G>C (p.Trp231Ser)
1g.99870478G>TCA341339679AGLc.743G>T (p.Trp248Leu)
n.954G>T
c.695G>T (p.Trp232Leu)
c.692G>T (p.Trp231Leu)
1g.99870479G>ACA341339682AGLc.744G>A (p.Trp248Ter)
n.955G>A
c.696G>A (p.Trp232Ter)
c.693G>A (p.Trp231Ter)
1g.99870479G>CCA341339685AGLc.744G>C (p.Trp248Cys)
n.955G>C
c.696G>C (p.Trp232Cys)
c.693G>C (p.Trp231Cys)
1g.99870479G>TCA341339687AGLc.744G>T (p.Trp248Cys)
n.955G>T
c.696G>T (p.Trp232Cys)
c.693G>T (p.Trp231Cys)
 gnomAD v4
1g.99870480G>ACA341339694AGLc.745G>A (p.Val249Ile)
n.956G>A
c.697G>A (p.Val233Ile)
c.694G>A (p.Val232Ile)
1g.99870480G>CCA341339695AGLc.745G>C (p.Val249Leu)
n.956G>C
c.697G>C (p.Val233Leu)
c.694G>C (p.Val232Leu)
1g.99870480G>TCA341339699AGLc.745G>T (p.Val249Phe)
n.956G>T
c.697G>T (p.Val233Phe)
c.694G>T (p.Val232Phe)
1g.99870481T>ACA341339704AGLc.746T>A (p.Val249Asp)
n.957T>A
c.698T>A (p.Val233Asp)
c.695T>A (p.Val232Asp)
1g.99870481T>CCA341339706AGLc.746T>C (p.Val249Ala)
n.957T>C
c.698T>C (p.Val233Ala)
c.695T>C (p.Val232Ala)
 gnomAD v4
1g.99870481T>GCA341339708AGLc.746T>G (p.Val249Gly)
n.957T>G
c.698T>G (p.Val233Gly)
c.695T>G (p.Val232Gly)
1g.99870482C>ACA419096424AGLc.747C>A (p.Val249=)
n.958C>A
c.699C>A (p.Val233=)
c.696C>A (p.Val232=)
1g.99870482C>GCA419096425AGLc.747C>G (p.Val249=)
n.958C>G
c.699C>G (p.Val233=)
c.696C>G (p.Val232=)
 ClinVar
1g.99870482C>TCA419096426AGLc.747C>T (p.Val249=)
n.958C>T
c.699C>T (p.Val233=)
c.696C>T (p.Val232=)
 gnomAD v4
1g.99870483T>ACA341339713AGLc.748T>A (p.Leu250Ile)
n.959T>A
c.700T>A (p.Leu234Ile)
c.697T>A (p.Leu233Ile)
1g.99870483T>CCA419096427AGLc.748T>C (p.Leu250=)
n.959T>C
c.700T>C (p.Leu234=)
c.697T>C (p.Leu233=)
1g.99870483T>GCA341339716AGLc.748T>G (p.Leu250Val)
n.959T>G
c.700T>G (p.Leu234Val)
c.697T>G (p.Leu233Val)
1g.99870484T>ACA341339722AGLc.749T>A (p.Leu250Ter)
n.960T>A
c.701T>A (p.Leu234Ter)
c.698T>A (p.Leu233Ter)
1g.99870484T>CCA341339725AGLc.749T>C (p.Leu250Ser)
n.960T>C
c.701T>C (p.Leu234Ser)
c.698T>C (p.Leu233Ser)
1g.99870484T>GCA341339727AGLc.749T>G (p.Leu250Ter)
n.960T>G
c.701T>G (p.Leu234Ter)
c.698T>G (p.Leu233Ter)
1g.99870484_99870488delinsTAGACCA1183923091AGLc.749_753delinsTAGAC (p.Leu250=)
n.960_964delinsTAGAC
c.701_705delinsTAGAC (p.Leu234=)
c.698_702delinsTAGAC (p.Leu233=)
1g.99870485A>CCA341339732AGLc.750A>C (p.Leu250Phe)
n.961A>C
c.702A>C (p.Leu234Phe)
c.699A>C (p.Leu233Phe)
1g.99870485A>GCA419096428AGLc.750A>G (p.Leu250=)
n.961A>G
c.702A>G (p.Leu234=)
c.699A>G (p.Leu233=)
1g.99870485A>TCA341339736AGLc.750A>T (p.Leu250Phe)
n.961A>T
c.702A>T (p.Leu234Phe)
c.699A>T (p.Leu233Phe)
1g.99870485_99870491delinsAGACAGACA1149042026AGLc.750_756delinsAGACAGA (p.Leu250=)
n.961_967delinsAGACAGA
c.702_708delinsAGACAGA (p.Leu234=)
c.699_705delinsAGACAGA (p.Leu233=)
1g.99870488_99870491delCA966256AGLc.753_756del (p.Asp251GlufsTer23)
n.964_967del
c.705_708del (p.Asp235GlufsTer23)
c.702_705del (p.Asp234GlufsTer23)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870486G>ACA341339759AGLc.751G>A (p.Asp251Asn)
n.962G>A
c.703G>A (p.Asp235Asn)
c.700G>A (p.Asp234Asn)
1g.99870486G>CCA341339762AGLc.751G>C (p.Asp251His)
n.962G>C
c.703G>C (p.Asp235His)
c.700G>C (p.Asp234His)
1g.99870486G>TCA341339765AGLc.751G>T (p.Asp251Tyr)
n.962G>T
c.703G>T (p.Asp235Tyr)
c.700G>T (p.Asp234Tyr)
1g.99870487A=CA1183923098AGLc.752A= (p.Asp251=)
n.963A=
c.704A= (p.Asp235=)
c.701A= (p.Asp234=)
1g.99870487A>CCA341339769AGLc.752A>C (p.Asp251Ala)
n.963A>C
c.704A>C (p.Asp235Ala)
c.701A>C (p.Asp234Ala)
 dbSNP gnomAD v2
1g.99870487A>GCA341339772AGLc.752A>G (p.Asp251Gly)
n.963A>G
c.704A>G (p.Asp235Gly)
c.701A>G (p.Asp234Gly)
1g.99870487A>TCA341339774AGLc.752A>T (p.Asp251Val)
n.963A>T
c.704A>T (p.Asp235Val)
c.701A>T (p.Asp234Val)
1g.99870488C>ACA341339779AGLc.753C>A (p.Asp251Glu)
n.964C>A
c.705C>A (p.Asp235Glu)
c.702C>A (p.Asp234Glu)
1g.99870488C=CA1183923103AGLc.753C= (p.Asp251=)
n.964C=
c.705C= (p.Asp235=)
c.702C= (p.Asp234=)
1g.99870488C>GCA341339783AGLc.753C>G (p.Asp251Glu)
n.964C>G
c.705C>G (p.Asp235Glu)
c.702C>G (p.Asp234Glu)
1g.99870488C>TCA27568700AGLc.753C>T (p.Asp251=)
n.964C>T
c.705C>T (p.Asp235=)
c.702C>T (p.Asp234=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99870488_99870490delinsCAGCA1183923101AGLc.753_755delinsCAG (p.Asp251=)
n.964_966delinsCAG
c.705_707delinsCAG (p.Asp235=)
c.702_704delinsCAG (p.Asp234=)
1g.99870488_99870497delinsCAGAGCACTTCA1183923106AGLc.753_762delinsCAGAGCACTT (p.Asp251=)
n.964_973delinsCAGAGCACTT
c.705_714delinsCAGAGCACTT (p.Asp235=)
c.702_711delinsCAGAGCACTT (p.Asp234=)
1g.99870489A=CA1143953119AGLc.754A= (p.Arg252=)
n.965A=
c.706A= (p.Arg236=)
c.703A= (p.Arg235=)
1g.99870489A>CCA419096429AGLc.754A>C (p.Arg252=)
n.965A>C
c.706A>C (p.Arg236=)
c.703A>C (p.Arg235=)
1g.99870489A>GCA966258AGLc.754A>G (p.Arg252Gly)
n.965A>G
c.706A>G (p.Arg236Gly)
c.703A>G (p.Arg235Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870489A>TCA341339789AGLc.754A>T (p.Arg252Ter)
n.965A>T
c.706A>T (p.Arg236Ter)
c.703A>T (p.Arg235Ter)
1g.99870491_99870492delCA966257AGLc.756_757del (p.Arg252SerfsTer8)
n.967_968del
c.708_709del (p.Arg236SerfsTer8)
c.705_706del (p.Arg235SerfsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870489_99870497delCA1183923122AGLc.754_762del (p.Arg252_Leu254del)
n.965_973del
c.706_714del (p.Arg236_Leu238del)
c.703_711del (p.Arg235_Leu237del)
 dbSNP
1g.99870490G>ACA341339800AGLc.755G>A (p.Arg252Lys)
n.966G>A
c.707G>A (p.Arg236Lys)
c.704G>A (p.Arg235Lys)
 gnomAD v4
1g.99870490G>CCA341339803AGLc.755G>C (p.Arg252Thr)
n.966G>C
c.707G>C (p.Arg236Thr)
c.704G>C (p.Arg235Thr)
1g.99870490G=CA1183923125AGLc.755G= (p.Arg252=)
n.966G=
c.707G= (p.Arg236=)
c.704G= (p.Arg235=)
1g.99870490G>TCA966259AGLc.755G>T (p.Arg252Ile)
n.966G>T
c.707G>T (p.Arg236Ile)
c.704G>T (p.Arg235Ile)
 dbSNP ExAC gnomAD v2
1g.99870491A>CCA341339805AGLc.756A>C (p.Arg252Ser)
n.967A>C
c.708A>C (p.Arg236Ser)
c.705A>C (p.Arg235Ser)
1g.99870491A>GCA419096430AGLc.756A>G (p.Arg252=)
n.967A>G
c.708A>G (p.Arg236=)
c.705A>G (p.Arg235=)
1g.99870491A>TCA341339808AGLc.756A>T (p.Arg252Ser)
n.967A>T
c.708A>T (p.Arg236Ser)
c.705A>T (p.Arg235Ser)
1g.99870492G>ACA341339810AGLc.757G>A (p.Ala253Thr)
n.968G>A
c.709G>A (p.Ala237Thr)
c.706G>A (p.Ala236Thr)
 gnomAD v4
1g.99870492G>CCA966260AGLc.757G>C (p.Ala253Pro)
n.968G>C
c.709G>C (p.Ala237Pro)
c.706G>C (p.Ala236Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870492G=CA1148230546AGLc.757G= (p.Ala253=)
n.968G=
c.709G= (p.Ala237=)
c.706G= (p.Ala236=)
1g.99870492G>TCA341339812AGLc.757G>T (p.Ala253Ser)
n.968G>T
c.709G>T (p.Ala237Ser)
c.706G>T (p.Ala236Ser)
 ClinVar dbSNP gnomAD v4
1g.99870493C>ACA341339814AGLc.758C>A (p.Ala253Glu)
n.969C>A
c.710C>A (p.Ala237Glu)
c.707C>A (p.Ala236Glu)
1g.99870493C=CA1183923129AGLc.758C= (p.Ala253=)
n.969C=
c.710C= (p.Ala237=)
c.707C= (p.Ala236=)
1g.99870493C>GCA341339817AGLc.758C>G (p.Ala253Gly)
n.969C>G
c.710C>G (p.Ala237Gly)
c.707C>G (p.Ala236Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99870493C>TCA341339819AGLc.758C>T (p.Ala253Val)
n.969C>T
c.710C>T (p.Ala237Val)
c.707C>T (p.Ala236Val)
 dbSNP
1g.99870494A=CA1183923134AGLc.759A= (p.Ala253=)
n.970A=
c.711A= (p.Ala237=)
c.708A= (p.Ala236=)
1g.99870494A>CCA419096432AGLc.759A>C (p.Ala253=)
n.970A>C
c.711A>C (p.Ala237=)
c.708A>C (p.Ala236=)
 dbSNP gnomAD v4
1g.99870494A>GCA966261AGLc.759A>G (p.Ala253=)
n.970A>G
c.711A>G (p.Ala237=)
c.708A>G (p.Ala236=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870494A>TCA419096431AGLc.759A>T (p.Ala253=)
n.970A>T
c.711A>T (p.Ala237=)
c.708A>T (p.Ala236=)
1g.99870495C>ACA341339821AGLc.760C>A (p.Leu254Ile)
n.971C>A
c.712C>A (p.Leu238Ile)
c.709C>A (p.Leu237Ile)
1g.99870495C>GCA341339823AGLc.760C>G (p.Leu254Val)
n.971C>G
c.712C>G (p.Leu238Val)
c.709C>G (p.Leu237Val)
1g.99870495C>TCA341339825AGLc.760C>T (p.Leu254Phe)
n.971C>T
c.712C>T (p.Leu238Phe)
c.709C>T (p.Leu237Phe)
1g.99870496T>ACA341339828AGLc.761T>A (p.Leu254His)
n.972T>A
c.713T>A (p.Leu238His)
c.710T>A (p.Leu237His)
1g.99870496T>CCA341339830AGLc.761T>C (p.Leu254Pro)
n.972T>C
c.713T>C (p.Leu238Pro)
c.710T>C (p.Leu237Pro)
1g.99870496T>GCA341339832AGLc.761T>G (p.Leu254Arg)
n.972T>G
c.713T>G (p.Leu238Arg)
c.710T>G (p.Leu237Arg)
1g.99870496_99870497insAAACA2744755505AGLc.761_762insAAA (p.Leu254_Trp255insAsn)
n.972_973insAAA
c.713_714insAAA (p.Leu238_Trp239insAsn)
c.710_711insAAA (p.Leu237_Trp238insAsn)
1g.99870497T>ACA419096433AGLc.762T>A (p.Leu254=)
n.973T>A
c.714T>A (p.Leu238=)
c.711T>A (p.Leu237=)
1g.99870497T>CCA966262AGLc.762T>C (p.Leu254=)
n.973T>C
c.714T>C (p.Leu238=)
c.711T>C (p.Leu237=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99870497T>GCA419096434AGLc.762T>G (p.Leu254=)
n.973T>G
c.714T>G (p.Leu238=)
c.711T>G (p.Leu237=)
1g.99870497T=CA1183923140AGLc.762T= (p.Leu254=)
n.973T=
c.714T= (p.Leu238=)
c.711T= (p.Leu237=)
1g.99870498T>ACA341339838AGLc.763T>A (p.Trp255Arg)
n.974T>A
c.715T>A (p.Trp239Arg)
c.712T>A (p.Trp238Arg)
1g.99870498T>CCA966263AGLc.763T>C (p.Trp255Arg)
n.974T>C
c.715T>C (p.Trp239Arg)
c.712T>C (p.Trp238Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870498T>GCA341339842AGLc.763T>G (p.Trp255Gly)
n.974T>G
c.715T>G (p.Trp239Gly)
c.712T>G (p.Trp238Gly)
 gnomAD v4
1g.99870498T=CA1183923143AGLc.763T= (p.Trp255=)
n.974T=
c.715T= (p.Trp239=)
c.712T= (p.Trp238=)
1g.99870499G>ACA341339845AGLc.764G>A (p.Trp255Ter)
n.975G>A
c.716G>A (p.Trp239Ter)
c.713G>A (p.Trp238Ter)
1g.99870499G>CCA341339847AGLc.764G>C (p.Trp255Ser)
n.975G>C
c.716G>C (p.Trp239Ser)
c.713G>C (p.Trp238Ser)
1g.99870499G>TCA341339848AGLc.764G>T (p.Trp255Leu)
n.975G>T
c.716G>T (p.Trp239Leu)
c.713G>T (p.Trp238Leu)
1g.99870500G>ACA341339852AGLc.765G>A (p.Trp255Ter)
n.976G>A
c.717G>A (p.Trp239Ter)
c.714G>A (p.Trp238Ter)
1g.99870500G>CCA341339854AGLc.765G>C (p.Trp255Cys)
n.976G>C
c.717G>C (p.Trp239Cys)
c.714G>C (p.Trp238Cys)
1g.99870500G=CA1183923145AGLc.765G= (p.Trp255=)
n.976G=
c.717G= (p.Trp239=)
c.714G= (p.Trp238=)
1g.99870500G>TCA341339856AGLc.765G>T (p.Trp255Cys)
n.976G>T
c.717G>T (p.Trp239Cys)
c.714G>T (p.Trp238Cys)
 dbSNP
1g.99870500_99870505delCA2744755506AGLc.765_770del (p.Trp255_Phe257delinsCys)
n.976_981del
c.717_722del (p.Trp239_Phe241delinsCys)
c.714_719del (p.Trp238_Phe240delinsCys)
1g.99870501C>ACA341339858AGLc.766C>A (p.Arg256Ser)
n.977C>A
c.718C>A (p.Arg240Ser)
c.715C>A (p.Arg239Ser)
1g.99870501C=CA1183923149AGLc.766C= (p.Arg256=)
n.977C=
c.718C= (p.Arg240=)
c.715C= (p.Arg239=)
1g.99870501C>GCA341339861AGLc.766C>G (p.Arg256Gly)
n.977C>G
c.718C>G (p.Arg240Gly)
c.715C>G (p.Arg239Gly)
 gnomAD v4
1g.99870501C>TCA966264AGLc.766C>T (p.Arg256Cys)
n.977C>T
c.718C>T (p.Arg240Cys)
c.715C>T (p.Arg239Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.99870502G>ACA966265AGLc.767G>A (p.Arg256His)
n.978G>A
c.719G>A (p.Arg240His)
c.716G>A (p.Arg239His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870502G>CCA341339866AGLc.767G>C (p.Arg256Pro)
n.978G>C
c.719G>C (p.Arg240Pro)
c.716G>C (p.Arg239Pro)
1g.99870502G=CA1143400881AGLc.767G= (p.Arg256=)
n.978G=
c.719G= (p.Arg240=)
c.716G= (p.Arg239=)
1g.99870502G>TCA341339864AGLc.767G>T (p.Arg256Leu)
n.978G>T
c.719G>T (p.Arg240Leu)
c.716G>T (p.Arg239Leu)
 COSMIC
1g.99870503T>ACA419096435AGLc.768T>A (p.Arg256=)
n.979T>A
c.720T>A (p.Arg240=)
c.717T>A (p.Arg239=)
1g.99870503T>CCA419096436AGLc.768T>C (p.Arg256=)
n.979T>C
c.720T>C (p.Arg240=)
c.717T>C (p.Arg239=)
1g.99870503T>GCA419096437AGLc.768T>G (p.Arg256=)
n.979T>G
c.720T>G (p.Arg240=)
c.717T>G (p.Arg239=)
1g.99870505dupCA2586967081AGLc.770dup (p.Ser258LeufsTer3)
n.981dup
c.722dup (p.Ser242LeufsTer3)
c.719dup (p.Ser241LeufsTer3)
1g.99870504T>ACA341339870AGLc.769T>A (p.Phe257Ile)
n.980T>A
c.721T>A (p.Phe241Ile)
c.718T>A (p.Phe240Ile)
1g.99870504T>CCA341339871AGLc.769T>C (p.Phe257Leu)
n.980T>C
c.721T>C (p.Phe241Leu)
c.718T>C (p.Phe240Leu)
 gnomAD v4
1g.99870504T>GCA341339874AGLc.769T>G (p.Phe257Val)
n.980T>G
c.721T>G (p.Phe241Val)
c.718T>G (p.Phe240Val)
1g.99870505T>ACA341339878AGLc.770T>A (p.Phe257Tyr)
n.981T>A
c.722T>A (p.Phe241Tyr)
c.719T>A (p.Phe240Tyr)
1g.99870505T>CCA341339880AGLc.770T>C (p.Phe257Ser)
n.981T>C
c.722T>C (p.Phe241Ser)
c.719T>C (p.Phe240Ser)
 dbSNP gnomAD v4
1g.99870505T>GCA341339882AGLc.770T>G (p.Phe257Cys)
n.981T>G
c.722T>G (p.Phe241Cys)
c.719T>G (p.Phe240Cys)
1g.99870505T=CA1183923163AGLc.770T= (p.Phe257=)
n.981T=
c.722T= (p.Phe241=)
c.719T= (p.Phe240=)
1g.99870506C>ACA341339886AGLc.771C>A (p.Phe257Leu)
n.982C>A
c.723C>A (p.Phe241Leu)
c.720C>A (p.Phe240Leu)
1g.99870506C=CA1183923166AGLc.771C= (p.Phe257=)
n.982C=
c.723C= (p.Phe241=)
c.720C= (p.Phe240=)
1g.99870506C>GCA27568743AGLc.771C>G (p.Phe257Leu)
n.982C>G
c.723C>G (p.Phe241Leu)
c.720C>G (p.Phe240Leu)
 ClinVar dbSNP gnomAD v4
1g.99870506C>TCA419096438AGLc.771C>T (p.Phe257=)
n.982C>T
c.723C>T (p.Phe241=)
c.720C>T (p.Phe240=)
1g.99870507T>ACA341339890AGLc.772T>A (p.Ser258Thr)
n.983T>A
c.724T>A (p.Ser242Thr)
c.721T>A (p.Ser241Thr)
1g.99870507T>CCA10588921AGLc.772T>C (p.Ser258Pro)
n.983T>C
c.724T>C (p.Ser242Pro)
c.721T>C (p.Ser241Pro)
 ClinVar dbSNP
1g.99870507T>GCA341339891AGLc.772T>G (p.Ser258Ala)
n.983T>G
c.724T>G (p.Ser242Ala)
c.721T>G (p.Ser241Ala)
1g.99870507T=CA1183923168AGLc.772T= (p.Ser258=)
n.983T=
c.724T= (p.Ser242=)
c.721T= (p.Ser241=)
1g.99870508C>ACA341339894AGLc.773C>A (p.Ser258Tyr)
n.984C>A
c.725C>A (p.Ser242Tyr)
c.722C>A (p.Ser241Tyr)
1g.99870508C>GCA341339896AGLc.773C>G (p.Ser258Cys)
n.984C>G
c.725C>G (p.Ser242Cys)
c.722C>G (p.Ser241Cys)
1g.99870508C>TCA341339899AGLc.773C>T (p.Ser258Phe)
n.984C>T
c.725C>T (p.Ser242Phe)
c.722C>T (p.Ser241Phe)
 gnomAD v4
1g.99870509C>ACA419096439AGLc.774C>A (p.Ser258=)
n.985C>A
c.726C>A (p.Ser242=)
c.723C>A (p.Ser241=)
1g.99870509C>GCA419096440AGLc.774C>G (p.Ser258=)
n.985C>G
c.726C>G (p.Ser242=)
c.723C>G (p.Ser241=)
1g.99870509C>TCA419096441AGLc.774C>T (p.Ser258=)
n.985C>T
c.726C>T (p.Ser242=)
c.723C>T (p.Ser241=)
 gnomAD v4
1g.99870509_99870513delCA2744755507AGLc.774_778del (p.Asp260CysfsTer15)
n.985_989del
c.726_730del (p.Asp244CysfsTer15)
c.723_727del (p.Asp243CysfsTer15)
1g.99870510T>ACA341339903AGLc.775T>A (p.Cys259Ser)
n.986T>A
c.727T>A (p.Cys243Ser)
c.724T>A (p.Cys242Ser)
1g.99870510T>CCA27568771AGLc.775T>C (p.Cys259Arg)
n.986T>C
c.727T>C (p.Cys243Arg)
c.724T>C (p.Cys242Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99870510T>GCA341339905AGLc.775T>G (p.Cys259Gly)
n.986T>G
c.727T>G (p.Cys243Gly)
c.724T>G (p.Cys242Gly)
1g.99870510T=CA1183923176AGLc.775T= (p.Cys259=)
n.986T=
c.727T= (p.Cys243=)
c.724T= (p.Cys242=)
1g.99870511G>ACA341339910AGLc.776G>A (p.Cys259Tyr)
n.987G>A
c.728G>A (p.Cys243Tyr)
c.725G>A (p.Cys242Tyr)
1g.99870511G>CCA341339912AGLc.776G>C (p.Cys259Ser)
n.987G>C
c.728G>C (p.Cys243Ser)
c.725G>C (p.Cys242Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.99870511G=CA1183923181AGLc.776G= (p.Cys259=)
n.987G=
c.728G= (p.Cys243=)
c.725G= (p.Cys242=)
1g.99870511G>TCA341339915AGLc.776G>T (p.Cys259Phe)
n.987G>T
c.728G>T (p.Cys243Phe)
c.725G>T (p.Cys242Phe)
1g.99870512T>ACA341339918AGLc.777T>A (p.Cys259Ter)
n.988T>A
c.729T>A (p.Cys243Ter)
c.726T>A (p.Cys242Ter)
1g.99870512T>CCA419096442AGLc.777T>C (p.Cys259=)
n.988T>C
c.729T>C (p.Cys243=)
c.726T>C (p.Cys242=)
1g.99870512T>GCA341339921AGLc.777T>G (p.Cys259Trp)
n.988T>G
c.729T>G (p.Cys243Trp)
c.726T>G (p.Cys242Trp)
1g.99870513G>ACA341339924AGLc.778G>A (p.Asp260Asn)
n.989G>A
c.730G>A (p.Asp244Asn)
c.727G>A (p.Asp243Asn)
1g.99870513G>CCA341339926AGLc.778G>C (p.Asp260His)
n.989G>C
c.730G>C (p.Asp244His)
c.727G>C (p.Asp243His)
1g.99870513G>TCA341339928AGLc.778G>T (p.Asp260Tyr)
n.989G>T
c.730G>T (p.Asp244Tyr)
c.727G>T (p.Asp243Tyr)
1g.99870514A>CCA341339944AGLc.779A>C (p.Asp260Ala)
n.990A>C
c.731A>C (p.Asp244Ala)
c.728A>C (p.Asp243Ala)
1g.99870514A>GCA341339947AGLc.779A>G (p.Asp260Gly)
n.990A>G
c.731A>G (p.Asp244Gly)
c.728A>G (p.Asp243Gly)
1g.99870514A>TCA341339950AGLc.779A>T (p.Asp260Val)
n.990A>T
c.731A>T (p.Asp244Val)
c.728A>T (p.Asp243Val)
1g.99870514_99870515delinsATCA1183923186AGLc.779_780delinsAT (p.Asp260=)
n.990_991delinsAT
c.731_732delinsAT (p.Asp244=)
c.728_729delinsAT (p.Asp243=)
1g.99870515delCA1183923188AGLc.780del (p.Asp260GlufsTer15)
n.991del
c.732del (p.Asp244GlufsTer15)
c.729del (p.Asp243GlufsTer15)
 dbSNP
1g.99870515T>ACA341339954AGLc.780T>A (p.Asp260Glu)
n.991T>A
c.732T>A (p.Asp244Glu)
c.729T>A (p.Asp243Glu)
1g.99870515T>CCA419096443AGLc.780T>C (p.Asp260=)
n.991T>C
c.732T>C (p.Asp244=)
c.729T>C (p.Asp243=)
1g.99870515T>GCA341339957AGLc.780T>G (p.Asp260Glu)
n.991T>G
c.732T>G (p.Asp244Glu)
c.729T>G (p.Asp243Glu)
1g.99870516G>ACA341339961AGLc.781G>A (p.Val261Ile)
n.992G>A
c.733G>A (p.Val245Ile)
c.730G>A (p.Val244Ile)
 gnomAD v4
1g.99870516G>CCA341339965AGLc.781G>C (p.Val261Leu)
n.992G>C
c.733G>C (p.Val245Leu)
c.730G>C (p.Val244Leu)
1g.99870516G>TCA341339963AGLc.781G>T (p.Val261Phe)
n.992G>T
c.733G>T (p.Val245Phe)
c.730G>T (p.Val244Phe)
1g.99870517T>ACA341339968AGLc.782T>A (p.Val261Asp)
n.993T>A
c.734T>A (p.Val245Asp)
c.731T>A (p.Val244Asp)
1g.99870517T>CCA341339970AGLc.782T>C (p.Val261Ala)
n.993T>C
c.734T>C (p.Val245Ala)
c.731T>C (p.Val244Ala)
 ClinVar dbSNP
1g.99870517T>GCA341339973AGLc.782T>G (p.Val261Gly)
n.993T>G
c.734T>G (p.Val245Gly)
c.731T>G (p.Val244Gly)
 ClinVar dbSNP gnomAD v4
1g.99870517T=CA1183923191AGLc.782T= (p.Val261=)
n.993T=
c.734T= (p.Val245=)
c.731T= (p.Val244=)
1g.99870518T>ACA419096444AGLc.783T>A (p.Val261=)
n.994T>A
c.735T>A (p.Val245=)
c.732T>A (p.Val244=)
1g.99870518T>CCA419096445AGLc.783T>C (p.Val261=)
n.994T>C
c.735T>C (p.Val245=)
c.732T>C (p.Val244=)
1g.99870518T>GCA419096446AGLc.783T>G (p.Val261=)
n.994T>G
c.735T>G (p.Val245=)
c.732T>G (p.Val244=)
 ClinVar
1g.99870519G>ACA341339978AGLc.784G>A (p.Ala262Thr)
n.995G>A
c.736G>A (p.Ala246Thr)
c.733G>A (p.Ala245Thr)
 gnomAD v4
1g.99870519G>CCA341339982AGLc.784G>C (p.Ala262Pro)
n.995G>C
c.736G>C (p.Ala246Pro)
c.733G>C (p.Ala245Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.99870519G=CA1183923194AGLc.784G= (p.Ala262=)
n.995G=
c.736G= (p.Ala246=)
c.733G= (p.Ala245=)
1g.99870519G>TCA341339987AGLc.784G>T (p.Ala262Ser)
n.995G>T
c.736G>T (p.Ala246Ser)
c.733G>T (p.Ala245Ser)
1g.99870520C>ACA341339991AGLc.785C>A (p.Ala262Glu)
n.996C>A
c.737C>A (p.Ala246Glu)
c.734C>A (p.Ala245Glu)
1g.99870520C>GCA341339994AGLc.785C>G (p.Ala262Gly)
n.996C>G
c.737C>G (p.Ala246Gly)
c.734C>G (p.Ala245Gly)
 gnomAD v4
1g.99870520C>TCA341339997AGLc.785C>T (p.Ala262Val)
n.996C>T
c.737C>T (p.Ala246Val)
c.734C>T (p.Ala245Val)
1g.99870521A>CCA419096449AGLc.786A>C (p.Ala262=)
n.997A>C
c.738A>C (p.Ala246=)
c.735A>C (p.Ala245=)
1g.99870521A>GCA419096448AGLc.786A>G (p.Ala262=)
n.997A>G
c.738A>G (p.Ala246=)
c.735A>G (p.Ala245=)
 ClinVar dbSNP
1g.99870521A>TCA419096447AGLc.786A>T (p.Ala262=)
n.997A>T
c.738A>T (p.Ala246=)
c.735A>T (p.Ala245=)
1g.99870522G>ACA341340009AGLc.787G>A (p.Glu263Lys)
n.998G>A
c.739G>A (p.Glu247Lys)
c.736G>A (p.Glu246Lys)
1g.99870522G>CCA341340013AGLc.787G>C (p.Glu263Gln)
n.998G>C
c.739G>C (p.Glu247Gln)
c.736G>C (p.Glu246Gln)
1g.99870522G>TCA341340018AGLc.787G>T (p.Glu263Ter)
n.998G>T
c.739G>T (p.Glu247Ter)
c.736G>T (p.Glu246Ter)
1g.99870523A>CCA341340030AGLc.788A>C (p.Glu263Ala)
n.999A>C
c.740A>C (p.Glu247Ala)
c.737A>C (p.Glu246Ala)
1g.99870523A>GCA341340025AGLc.788A>G (p.Glu263Gly)
n.999A>G
c.740A>G (p.Glu247Gly)
c.737A>G (p.Glu246Gly)
1g.99870523A>TCA341340028AGLc.788A>T (p.Glu263Val)
n.999A>T
c.740A>T (p.Glu247Val)
c.737A>T (p.Glu246Val)
1g.99870524A>CCA341340035AGLc.789A>C (p.Glu263Asp)
n.1000A>C
c.741A>C (p.Glu247Asp)
c.738A>C (p.Glu246Asp)
1g.99870524A>GCA419096450AGLc.789A>G (p.Glu263=)
n.1000A>G
c.741A>G (p.Glu247=)
c.738A>G (p.Glu246=)
1g.99870524A>TCA341340037AGLc.789A>T (p.Glu263Asp)
n.1000A>T
c.741A>T (p.Glu247Asp)
c.738A>T (p.Glu246Asp)
1g.99870525G>ACA341340042AGLc.790G>A (p.Gly264Arg)
n.1001G>A
c.742G>A (p.Gly248Arg)
c.739G>A (p.Gly247Arg)
 gnomAD v4
1g.99870525G>CCA341340046AGLc.790G>C (p.Gly264Arg)
n.1001G>C
c.742G>C (p.Gly248Arg)
c.739G>C (p.Gly247Arg)
1g.99870525G>TCA341340050AGLc.790G>T (p.Gly264Trp)
n.1001G>T
c.742G>T (p.Gly248Trp)
c.739G>T (p.Gly247Trp)
 COSMIC COSMIC
1g.99870526G>ACA341340055AGLc.791G>A (p.Gly264Glu)
n.1002G>A
c.743G>A (p.Gly248Glu)
c.740G>A (p.Gly247Glu)
1g.99870526G>CCA341340058AGLc.791G>C (p.Gly264Ala)
n.1002G>C
c.743G>C (p.Gly248Ala)
c.740G>C (p.Gly247Ala)
1g.99870526G>TCA341340061AGLc.791G>T (p.Gly264Val)
n.1002G>T
c.743G>T (p.Gly248Val)
c.740G>T (p.Gly247Val)
1g.99870527G>ACA419096451AGLc.792G>A (p.Gly264=)
n.1003G>A
c.744G>A (p.Gly248=)
c.741G>A (p.Gly247=)
1g.99870527G>CCA419096453AGLc.792G>C (p.Gly264=)
n.1003G>C
c.744G>C (p.Gly248=)
c.741G>C (p.Gly247=)
1g.99870527G>TCA419096452AGLc.792G>T (p.Gly264=)
n.1003G>T
c.744G>T (p.Gly248=)
c.741G>T (p.Gly247=)
1g.99870528A>CCA341340067AGLc.793A>C (p.Lys265Gln)
n.1004A>C
c.745A>C (p.Lys249Gln)
c.742A>C (p.Lys248Gln)
1g.99870528A>GCA341340070AGLc.793A>G (p.Lys265Glu)
n.1004A>G
c.745A>G (p.Lys249Glu)
c.742A>G (p.Lys248Glu)
1g.99870528A>TCA341340072AGLc.793A>T (p.Lys265Ter)
n.1004A>T
c.745A>T (p.Lys249Ter)
c.742A>T (p.Lys248Ter)
1g.99870530delCA2697552539AGLc.795del (p.Lys265AsnfsTer10)
n.1006del
c.747del (p.Lys249AsnfsTer10)
c.744del (p.Lys248AsnfsTer10)
 ClinVar
1g.99870529A>CCA341340086AGLc.794A>C (p.Lys265Thr)
n.1005A>C
c.746A>C (p.Lys249Thr)
c.743A>C (p.Lys248Thr)
1g.99870529A>GCA341340083AGLc.794A>G (p.Lys265Arg)
n.1005A>G
c.746A>G (p.Lys249Arg)
c.743A>G (p.Lys248Arg)
1g.99870529A>TCA341340080AGLc.794A>T (p.Lys265Ile)
n.1005A>T
c.746A>T (p.Lys249Ile)
c.743A>T (p.Lys248Ile)
 COSMIC
1g.99870530A=CA1183923201AGLc.795A= (p.Lys265=)
n.1006A=
c.747A= (p.Lys249=)
c.744A= (p.Lys248=)
1g.99870530A>CCA341340090AGLc.795A>C (p.Lys265Asn)
n.1006A>C
c.747A>C (p.Lys249Asn)
c.744A>C (p.Lys248Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99870530A>GCA419096454AGLc.795A>G (p.Lys265=)
n.1006A>G
c.747A>G (p.Lys249=)
c.744A>G (p.Lys248=)
 gnomAD v4
1g.99870530A>TCA341340093AGLc.795A>T (p.Lys265Asn)
n.1006A>T
c.747A>T (p.Lys249Asn)
c.744A>T (p.Lys248Asn)
1g.99870531T>ACA341340095AGLc.796T>A (p.Tyr266Asn)
n.1007T>A
c.748T>A (p.Tyr250Asn)
c.745T>A (p.Tyr249Asn)
1g.99870531T>CCA341340097AGLc.796T>C (p.Tyr266His)
n.1007T>C
c.748T>C (p.Tyr250His)
c.745T>C (p.Tyr249His)
1g.99870531T>GCA341340100AGLc.796T>G (p.Tyr266Asp)
n.1007T>G
c.748T>G (p.Tyr250Asp)
c.745T>G (p.Tyr249Asp)
1g.99870532A>CCA341340104AGLc.797A>C (p.Tyr266Ser)
n.1008A>C
c.749A>C (p.Tyr250Ser)
c.746A>C (p.Tyr249Ser)
1g.99870532A>GCA341340108AGLc.797A>G (p.Tyr266Cys)
n.1008A>G
c.749A>G (p.Tyr250Cys)
c.746A>G (p.Tyr249Cys)
1g.99870532A>TCA341340112AGLc.797A>T (p.Tyr266Phe)
n.1008A>T
c.749A>T (p.Tyr250Phe)
c.746A>T (p.Tyr249Phe)
1g.99870533C>ACA341340115AGLc.798C>A (p.Tyr266Ter)
n.1009C>A
c.750C>A (p.Tyr250Ter)
c.747C>A (p.Tyr249Ter)
1g.99870533C=CA1183923206AGLc.798C= (p.Tyr266=)
n.1009C=
c.750C= (p.Tyr250=)
c.747C= (p.Tyr249=)
1g.99870533C>GCA341340118AGLc.798C>G (p.Tyr266Ter)
n.1009C>G
c.750C>G (p.Tyr250Ter)
c.747C>G (p.Tyr249Ter)
 gnomAD v4
1g.99870533C>TCA27568782AGLc.798C>T (p.Tyr266=)
n.1009C>T
c.750C>T (p.Tyr250=)
c.747C>T (p.Tyr249=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99870534A>CCA341340122AGLc.799A>C (p.Lys267Gln)
n.1010A>C
c.751A>C (p.Lys251Gln)
c.748A>C (p.Lys250Gln)
1g.99870534A>GCA341340124AGLc.799A>G (p.Lys267Glu)
n.1010A>G
c.751A>G (p.Lys251Glu)
c.748A>G (p.Lys250Glu)
 gnomAD v4
1g.99870534A>TCA341340128AGLc.799A>T (p.Lys267Ter)
n.1010A>T
c.751A>T (p.Lys251Ter)
c.748A>T (p.Lys250Ter)
1g.99870535A>CCA341340137AGLc.800A>C (p.Lys267Thr)
n.1011A>C
c.752A>C (p.Lys251Thr)
c.749A>C (p.Lys250Thr)
1g.99870535A>GCA341340132AGLc.800A>G (p.Lys267Arg)
n.1011A>G
c.752A>G (p.Lys251Arg)
c.749A>G (p.Lys250Arg)
1g.99870535A>TCA341340135AGLc.800A>T (p.Lys267Ile)
n.1011A>T
c.752A>T (p.Lys251Ile)
c.749A>T (p.Lys250Ile)
1g.99870536A=CA1143764362AGLc.801A= (p.Lys267=)
n.1012A=
c.753A= (p.Lys251=)
c.750A= (p.Lys250=)
1g.99870536A>CCA341340143AGLc.801A>C (p.Lys267Asn)
n.1012A>C
c.753A>C (p.Lys251Asn)
c.750A>C (p.Lys250Asn)
 ClinVar gnomAD v4
1g.99870536A>GCA966266AGLc.801A>G (p.Lys267=)
n.1012A>G
c.753A>G (p.Lys251=)
c.750A>G (p.Lys250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870536A>TCA341340148AGLc.801A>T (p.Lys267Asn)
n.1012A>T
c.753A>T (p.Lys251Asn)
c.750A>T (p.Lys250Asn)
1g.99870537G>ACA341340156AGLc.802G>A (p.Glu268Lys)
n.1013G>A
c.754G>A (p.Glu252Lys)
c.751G>A (p.Glu251Lys)
1g.99870537G>CCA341340160AGLc.802G>C (p.Glu268Gln)
n.1013G>C
c.754G>C (p.Glu252Gln)
c.751G>C (p.Glu251Gln)
1g.99870537G>TCA341340163AGLc.802G>T (p.Glu268Ter)
n.1013G>T
c.754G>T (p.Glu252Ter)
c.751G>T (p.Glu251Ter)
1g.99870538A=CA1144113137AGLc.803A= (p.Glu268=)
n.1014A=
c.755A= (p.Glu252=)
c.752A= (p.Glu251=)
1g.99870538A>CCA341340166AGLc.803A>C (p.Glu268Ala)
n.1014A>C
c.755A>C (p.Glu252Ala)
c.752A>C (p.Glu251Ala)
1g.99870538A>GCA966267AGLc.803A>G (p.Glu268Gly)
n.1014A>G
c.755A>G (p.Glu252Gly)
c.752A>G (p.Glu251Gly)
 ClinVar dbSNP ExAC gnomAD v2
1g.99870538A>TCA341340171AGLc.803A>T (p.Glu268Val)
n.1014A>T
c.755A>T (p.Glu252Val)
c.752A>T (p.Glu251Val)
1g.99870540_99870541delCA2646734593AGLc.805_806del (p.Lys269GlyfsTer7)
n.1016_1017del
c.757_758del (p.Lys253GlyfsTer7)
c.754_755del (p.Lys252GlyfsTer7)
 dbSNP gnomAD v4
1g.99870539A>CCA341340177AGLc.804A>C (p.Glu268Asp)
n.1015A>C
c.756A>C (p.Glu252Asp)
c.753A>C (p.Glu251Asp)
1g.99870539A>GCA419096455AGLc.804A>G (p.Glu268=)
n.1015A>G
c.756A>G (p.Glu252=)
c.753A>G (p.Glu251=)
1g.99870539A>TCA341340180AGLc.804A>T (p.Glu268Asp)
n.1015A>T
c.756A>T (p.Glu252Asp)
c.753A>T (p.Glu251Asp)
1g.99870540A=CA1183923214AGLc.805A= (p.Lys269=)
n.1016A=
c.757A= (p.Lys253=)
c.754A= (p.Lys252=)
1g.99870540A>CCA341340189AGLc.805A>C (p.Lys269Gln)
n.1016A>C
c.757A>C (p.Lys253Gln)
c.754A>C (p.Lys252Gln)
1g.99870540A>GCA341340185AGLc.805A>G (p.Lys269Glu)
n.1016A>G
c.757A>G (p.Lys253Glu)
c.754A>G (p.Lys252Glu)
 ClinVar dbSNP
1g.99870540A>TCA341340183AGLc.805A>T (p.Lys269Ter)
n.1016A>T
c.757A>T (p.Lys253Ter)
c.754A>T (p.Lys252Ter)
1g.99870541A>CCA341340196AGLc.806A>C (p.Lys269Thr)
n.1017A>C
c.758A>C (p.Lys253Thr)
c.755A>C (p.Lys252Thr)
1g.99870541A>GCA341340202AGLc.806A>G (p.Lys269Arg)
n.1017A>G
c.758A>G (p.Lys253Arg)
c.755A>G (p.Lys252Arg)
1g.99870541A>TCA341340199AGLc.806A>T (p.Lys269Met)
n.1017A>T
c.758A>T (p.Lys253Met)
c.755A>T (p.Lys252Met)
1g.99870542G>ACA419096456AGLc.807G>A (p.Lys269=)
n.1018G>A
c.759G>A (p.Lys253=)
c.756G>A (p.Lys252=)
1g.99870542G>CCA341340219AGLc.807G>C (p.Lys269Asn)
n.1018G>C
c.759G>C (p.Lys253Asn)
c.756G>C (p.Lys252Asn)
1g.99870542G>TCA341340224AGLc.807G>T (p.Lys269Asn)
n.1018G>T
c.759G>T (p.Lys253Asn)
c.756G>T (p.Lys252Asn)
1g.99870544dupCA2695198098AGLc.809dup (p.Ile271AsnfsTer6)
n.1020dup
c.761dup (p.Ile255AsnfsTer6)
c.758dup (p.Ile254AsnfsTer6)
 ClinVar
1g.99870543G>ACA341340230AGLc.808G>A (p.Gly270Arg)
n.1019G>A
c.760G>A (p.Gly254Arg)
c.757G>A (p.Gly253Arg)
 dbSNP
1g.99870543G>CCA341340233AGLc.808G>C (p.Gly270Arg)
n.1019G>C
c.760G>C (p.Gly254Arg)
c.757G>C (p.Gly253Arg)
1g.99870543G=CA1183923220AGLc.808G= (p.Gly270=)
n.1019G=
c.760G= (p.Gly254=)
c.757G= (p.Gly253=)
1g.99870543G>TCA341340235AGLc.808G>T (p.Gly270Ter)
n.1019G>T
c.760G>T (p.Gly254Ter)
c.757G>T (p.Gly253Ter)
 ClinVar
1g.99870544G>ACA341340244AGLc.809G>A (p.Gly270Glu)
n.1020G>A
c.761G>A (p.Gly254Glu)
c.758G>A (p.Gly253Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99870544G>CCA341340248AGLc.809G>C (p.Gly270Ala)
n.1020G>C
c.761G>C (p.Gly254Ala)
c.758G>C (p.Gly253Ala)
1g.99870544G=CA1183923223AGLc.809G= (p.Gly270=)
n.1020G=
c.761G= (p.Gly254=)
c.758G= (p.Gly253=)
1g.99870544G>TCA341340252AGLc.809G>T (p.Gly270Val)
n.1020G>T
c.761G>T (p.Gly254Val)
c.758G>T (p.Gly253Val)
1g.99870545A>CCA419096457AGLc.810A>C (p.Gly270=)
n.1021A>C
c.762A>C (p.Gly254=)
c.759A>C (p.Gly253=)
1g.99870545A>GCA419096458AGLc.810A>G (p.Gly270=)
n.1021A>G
c.762A>G (p.Gly254=)
c.759A>G (p.Gly253=)
1g.99870545A>TCA419096459AGLc.810A>T (p.Gly270=)
n.1021A>T
c.762A>T (p.Gly254=)
c.759A>T (p.Gly253=)
1g.99870546A>CCA341340258AGLc.811A>C (p.Ile271Leu)
n.1022A>C
c.763A>C (p.Ile255Leu)
c.760A>C (p.Ile254Leu)
1g.99870546A>GCA341340260AGLc.811A>G (p.Ile271Val)
n.1022A>G
c.763A>G (p.Ile255Val)
c.760A>G (p.Ile254Val)
 ClinVar dbSNP
1g.99870546A>TCA341340263AGLc.811A>T (p.Ile271Leu)
n.1022A>T
c.763A>T (p.Ile255Leu)
c.760A>T (p.Ile254Leu)
 gnomAD v4
1g.99870547T>ACA341340268AGLc.812T>A (p.Ile271Lys)
n.1023T>A
c.764T>A (p.Ile255Lys)
c.761T>A (p.Ile254Lys)
1g.99870547T>CCA341340271AGLc.812T>C (p.Ile271Thr)
n.1023T>C
c.764T>C (p.Ile255Thr)
c.761T>C (p.Ile254Thr)
1g.99870547T>GCA341340275AGLc.812T>G (p.Ile271Arg)
n.1023T>G
c.764T>G (p.Ile255Arg)
c.761T>G (p.Ile254Arg)
1g.99870548A=CA1183923225AGLc.813A= (p.Ile271=)
n.1024A=
c.765A= (p.Ile255=)
c.762A= (p.Ile254=)
1g.99870548A>CCA419096461AGLc.813A>C (p.Ile271=)
n.1024A>C
c.765A>C (p.Ile255=)
c.762A>C (p.Ile254=)
1g.99870548A>GCA341340278AGLc.813A>G (p.Ile271Met)
n.1024A>G
c.765A>G (p.Ile255Met)
c.762A>G (p.Ile254Met)
 dbSNP
1g.99870548A>TCA419096460AGLc.813A>T (p.Ile271=)
n.1024A>T
c.765A>T (p.Ile255=)
c.762A>T (p.Ile254=)
1g.99870549C>ACA966268AGLc.814C>A (p.Pro272Thr)
n.1025C>A
c.766C>A (p.Pro256Thr)
c.763C>A (p.Pro255Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99870549C=CA1183923228AGLc.814C= (p.Pro272=)
n.1025C=
c.766C= (p.Pro256=)
c.763C= (p.Pro255=)
1g.99870549C>GCA341340284AGLc.814C>G (p.Pro272Ala)
n.1025C>G
c.766C>G (p.Pro256Ala)
c.763C>G (p.Pro255Ala)
1g.99870549C>TCA341340290AGLc.814C>T (p.Pro272Ser)
n.1025C>T
c.766C>T (p.Pro256Ser)
c.763C>T (p.Pro255Ser)
 gnomAD v3 gnomAD v4
1g.99870550delCA2646734604AGLc.815del (p.Pro272LeufsTer3)
n.1026del
c.767del (p.Pro256LeufsTer3)
c.764del (p.Pro255LeufsTer3)
 gnomAD v4
1g.99870550C>ACA341340293AGLc.815C>A (p.Pro272His)
n.1026C>A
c.767C>A (p.Pro256His)
c.764C>A (p.Pro255His)
1g.99870550C=CA1183923232AGLc.815C= (p.Pro272=)
n.1026C=
c.767C= (p.Pro256=)
c.764C= (p.Pro255=)
1g.99870550C>GCA341340297AGLc.815C>G (p.Pro272Arg)
n.1026C>G
c.767C>G (p.Pro256Arg)
c.764C>G (p.Pro255Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.99870550C>TCA341340302AGLc.815C>T (p.Pro272Leu)
n.1026C>T
c.767C>T (p.Pro256Leu)
c.764C>T (p.Pro255Leu)
1g.99870551T>ACA419096462AGLc.816T>A (p.Pro272=)
n.1027T>A
c.768T>A (p.Pro256=)
c.765T>A (p.Pro255=)
1g.99870551T>CCA419096463AGLc.816T>C (p.Pro272=)
n.1027T>C
c.768T>C (p.Pro256=)
c.765T>C (p.Pro255=)
 gnomAD v4
1g.99870551T>GCA419096464AGLc.816T>G (p.Pro272=)
n.1027T>G
c.768T>G (p.Pro256=)
c.765T>G (p.Pro255=)
1g.99870552G>ACA341340307AGLc.817G>A (p.Ala273Thr)
n.1028G>A
c.769G>A (p.Ala257Thr)
c.766G>A (p.Ala256Thr)
1g.99870552G>CCA341340310AGLc.817G>C (p.Ala273Pro)
n.1028G>C
c.769G>C (p.Ala257Pro)
c.766G>C (p.Ala256Pro)
1g.99870552G>TCA341340314AGLc.817G>T (p.Ala273Ser)
n.1028G>T
c.769G>T (p.Ala257Ser)
c.766G>T (p.Ala256Ser)
 gnomAD v4

Number of alleles fetched