Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.139373229delCA2680562546CITED2c.716del (p.Arg239ProfsTer18)
c.731del (p.Arg244ProfsTer18)
c.545del (p.Arg182ProfsTer18)
 gnomAD v4
6g.139373229C>ACA365876347CITED2c.716G>T (p.Arg239Leu)
c.731G>T (p.Arg244Leu)
c.545G>T (p.Arg182Leu)
6g.139373229C>GCA365876348CITED2c.716G>C (p.Arg239Pro)
c.731G>C (p.Arg244Pro)
c.545G>C (p.Arg182Pro)
6g.139373229C>TCA365876351CITED2c.716G>A (p.Arg239His)
c.731G>A (p.Arg244His)
c.545G>A (p.Arg182His)
6g.139373230G>ACA365876353CITED2c.715C>T (p.Arg239Cys)
c.730C>T (p.Arg244Cys)
c.544C>T (p.Arg182Cys)
6g.139373230G>CCA365876355CITED2c.715C>G (p.Arg239Gly)
c.730C>G (p.Arg244Gly)
c.544C>G (p.Arg182Gly)
6g.139373230G>TCA365876357CITED2c.715C>A (p.Arg239Ser)
c.730C>A (p.Arg244Ser)
c.544C>A (p.Arg182Ser)
6g.139373231G>ACA452441240CITED2c.714C>T (p.Asp238=)
c.729C>T (p.Asp243=)
c.543C>T (p.Asp181=)
 dbSNP gnomAD v4
6g.139373231G>CCA365876359CITED2c.714C>G (p.Asp238Glu)
c.729C>G (p.Asp243Glu)
c.543C>G (p.Asp181Glu)
6g.139373231G=CA1667372274CITED2c.714C= (p.Asp238=)
c.729C= (p.Asp243=)
c.543C= (p.Asp181=)
6g.139373231G>TCA365876361CITED2c.714C>A (p.Asp238Glu)
c.729C>A (p.Asp243Glu)
c.543C>A (p.Asp181Glu)
6g.139373232T>ACA365876363CITED2c.713A>T (p.Asp238Val)
c.728A>T (p.Asp243Val)
c.542A>T (p.Asp181Val)
6g.139373232T>CCA365876365CITED2c.713A>G (p.Asp238Gly)
c.728A>G (p.Asp243Gly)
c.542A>G (p.Asp181Gly)
6g.139373232T>GCA365876366CITED2c.713A>C (p.Asp238Ala)
c.728A>C (p.Asp243Ala)
c.542A>C (p.Asp181Ala)
6g.139373233C>ACA365876369CITED2c.712G>T (p.Asp238Tyr)
c.727G>T (p.Asp243Tyr)
c.541G>T (p.Asp181Tyr)
 COSMIC
6g.139373233C>GCA365876370CITED2c.712G>C (p.Asp238His)
c.727G>C (p.Asp243His)
c.541G>C (p.Asp181His)
6g.139373233C>TCA365876371CITED2c.712G>A (p.Asp238Asn)
c.727G>A (p.Asp243Asn)
c.541G>A (p.Asp181Asn)
6g.139373234C>ACA365876374CITED2c.711G>T (p.Leu237Phe)
c.726G>T (p.Leu242Phe)
c.540G>T (p.Leu180Phe)
6g.139373234C>GCA365876376CITED2c.711G>C (p.Leu237Phe)
c.726G>C (p.Leu242Phe)
c.540G>C (p.Leu180Phe)
6g.139373234C>TCA452441251CITED2c.711G>A (p.Leu237=)
c.726G>A (p.Leu242=)
c.540G>A (p.Leu180=)
6g.139373236_139373250dupCA2578756308CITED2c.697_711dup (p.Leu237_Asp238insIleGluMetGlyLeu)
c.712_726dup (p.Leu242_Asp243insIleGluMetGlyLeu)
c.526_540dup (p.Leu180_Asp181insIleGluMetGlyLeu)
6g.139373235A>CCA365876377CITED2c.710T>G (p.Leu237Trp)
c.725T>G (p.Leu242Trp)
c.539T>G (p.Leu180Trp)
6g.139373235A>GCA365876379CITED2c.710T>C (p.Leu237Ser)
c.725T>C (p.Leu242Ser)
c.539T>C (p.Leu180Ser)
6g.139373235A>TCA365876381CITED2c.710T>A (p.Leu237Ter)
c.725T>A (p.Leu242Ter)
c.539T>A (p.Leu180Ter)
6g.139373236A>CCA365876383CITED2c.709T>G (p.Leu237Val)
c.724T>G (p.Leu242Val)
c.538T>G (p.Leu180Val)
6g.139373236A>GCA452441254CITED2c.709T>C (p.Leu237=)
c.724T>C (p.Leu242=)
c.538T>C (p.Leu180=)
6g.139373236A>TCA365876384CITED2c.709T>A (p.Leu237Met)
c.724T>A (p.Leu242Met)
c.538T>A (p.Leu180Met)
6g.139373237A>CCA452441262CITED2c.708T>G (p.Gly236=)
c.723T>G (p.Gly241=)
c.537T>G (p.Gly179=)
 COSMIC
6g.139373237A>GCA452441257CITED2c.708T>C (p.Gly236=)
c.723T>C (p.Gly241=)
c.537T>C (p.Gly179=)
6g.139373237A>TCA452441259CITED2c.708T>A (p.Gly236=)
c.723T>A (p.Gly241=)
c.537T>A (p.Gly179=)
6g.139373238C>ACA365876389CITED2c.707G>T (p.Gly236Val)
c.722G>T (p.Gly241Val)
c.536G>T (p.Gly179Val)
6g.139373238C>GCA365876390CITED2c.707G>C (p.Gly236Ala)
c.722G>C (p.Gly241Ala)
c.536G>C (p.Gly179Ala)
6g.139373238C>TCA365876387CITED2c.707G>A (p.Gly236Asp)
c.722G>A (p.Gly241Asp)
c.536G>A (p.Gly179Asp)
6g.139373240dupCA2695207109CITED2c.707dup (p.Leu237PhefsTer18)
c.722dup (p.Leu242PhefsTer18)
c.536dup (p.Leu180PhefsTer18)
6g.139373239C>ACA365876391CITED2c.706G>T (p.Gly236Cys)
c.721G>T (p.Gly241Cys)
c.535G>T (p.Gly179Cys)
6g.139373239C>GCA365876392CITED2c.706G>C (p.Gly236Arg)
c.721G>C (p.Gly241Arg)
c.535G>C (p.Gly179Arg)
6g.139373239C>TCA365876394CITED2c.706G>A (p.Gly236Ser)
c.721G>A (p.Gly241Ser)
c.535G>A (p.Gly179Ser)
6g.139373240C>ACA365876396CITED2c.705G>T (p.Met235Ile)
c.720G>T (p.Met240Ile)
c.534G>T (p.Met178Ile)
 gnomAD v4
6g.139373240C>GCA365876397CITED2c.705G>C (p.Met235Ile)
c.720G>C (p.Met240Ile)
c.534G>C (p.Met178Ile)
6g.139373240C>TCA365876399CITED2c.705G>A (p.Met235Ile)
c.720G>A (p.Met240Ile)
c.534G>A (p.Met178Ile)
6g.139373241A=CA1667372276CITED2c.704T= (p.Met235=)
c.719T= (p.Met240=)
c.533T= (p.Met178=)
6g.139373241A>CCA365876403CITED2c.704T>G (p.Met235Arg)
c.719T>G (p.Met240Arg)
c.533T>G (p.Met178Arg)
6g.139373241A>GCA365876400CITED2c.704T>C (p.Met235Thr)
c.719T>C (p.Met240Thr)
c.533T>C (p.Met178Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.139373241A>TCA365876402CITED2c.704T>A (p.Met235Lys)
c.719T>A (p.Met240Lys)
c.533T>A (p.Met178Lys)
 COSMIC
6g.139373241_139373243delinsATTCA1667372275CITED2c.702_704delinsAAT (p.Glu234=)
c.717_719delinsAAT (p.Glu239=)
c.531_533delinsAAT (p.Glu177=)
6g.139373242T>ACA365876405CITED2c.703A>T (p.Met235Leu)
c.718A>T (p.Met240Leu)
c.532A>T (p.Met178Leu)
6g.139373242T>CCA365876407CITED2c.703A>G (p.Met235Val)
c.718A>G (p.Met240Val)
c.532A>G (p.Met178Val)
6g.139373242T>GCA365876408CITED2c.703A>C (p.Met235Leu)
c.718A>C (p.Met240Leu)
c.532A>C (p.Met178Leu)
6g.139373243_139373244delCA917872440CITED2c.702_703del (p.Glu234AspfsTer20)
c.717_718del (p.Glu239AspfsTer20)
c.531_532del (p.Glu177AspfsTer20)
 dbSNP
6g.139373243T>ACA365876409CITED2c.702A>T (p.Glu234Asp)
c.717A>T (p.Glu239Asp)
c.531A>T (p.Glu177Asp)
6g.139373243T>CCA452441270CITED2c.702A>G (p.Glu234=)
c.717A>G (p.Glu239=)
c.531A>G (p.Glu177=)
6g.139373243T>GCA365876411CITED2c.702A>C (p.Glu234Asp)
c.717A>C (p.Glu239Asp)
c.531A>C (p.Glu177Asp)
6g.139373244T>ACA365876417CITED2c.701A>T (p.Glu234Val)
c.716A>T (p.Glu239Val)
c.530A>T (p.Glu177Val)
6g.139373244T>CCA365876413CITED2c.701A>G (p.Glu234Gly)
c.716A>G (p.Glu239Gly)
c.530A>G (p.Glu177Gly)
6g.139373244T>GCA365876415CITED2c.701A>C (p.Glu234Ala)
c.716A>C (p.Glu239Ala)
c.530A>C (p.Glu177Ala)
 ClinVar dbSNP
6g.139373244T=CA1667372277CITED2c.701A= (p.Glu234=)
c.716A= (p.Glu239=)
c.530A= (p.Glu177=)
6g.139373245C>ACA365876419CITED2c.700G>T (p.Glu234Ter)
c.715G>T (p.Glu239Ter)
c.529G>T (p.Glu177Ter)
6g.139373245C>GCA365876421CITED2c.700G>C (p.Glu234Gln)
c.715G>C (p.Glu239Gln)
c.529G>C (p.Glu177Gln)
 COSMIC
6g.139373245C>TCA365876422CITED2c.700G>A (p.Glu234Lys)
c.715G>A (p.Glu239Lys)
c.529G>A (p.Glu177Lys)
6g.139373246T>ACA452441274CITED2c.699A>T (p.Ile233=)
c.714A>T (p.Ile238=)
c.528A>T (p.Ile176=)
6g.139373246T>CCA365876425CITED2c.699A>G (p.Ile233Met)
c.714A>G (p.Ile238Met)
c.528A>G (p.Ile176Met)
6g.139373246T>GCA452441275CITED2c.699A>C (p.Ile233=)
c.714A>C (p.Ile238=)
c.528A>C (p.Ile176=)
6g.139373247A=CA1667372278CITED2c.698T= (p.Ile233=)
c.713T= (p.Ile238=)
c.527T= (p.Ile176=)
6g.139373247A>CCA365876427CITED2c.698T>G (p.Ile233Arg)
c.713T>G (p.Ile238Arg)
c.527T>G (p.Ile176Arg)
6g.139373247A>GCA365876429CITED2c.698T>C (p.Ile233Thr)
c.713T>C (p.Ile238Thr)
c.527T>C (p.Ile176Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373247A>TCA365876431CITED2c.698T>A (p.Ile233Lys)
c.713T>A (p.Ile238Lys)
c.527T>A (p.Ile176Lys)
6g.139373248T>ACA365876432CITED2c.697A>T (p.Ile233Leu)
c.712A>T (p.Ile238Leu)
c.526A>T (p.Ile176Leu)
6g.139373248T>CCA4025530CITED2c.697A>G (p.Ile233Val)
c.712A>G (p.Ile238Val)
c.526A>G (p.Ile176Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.139373248T>GCA365876433CITED2c.697A>C (p.Ile233Leu)
c.712A>C (p.Ile238Leu)
c.526A>C (p.Ile176Leu)
6g.139373248T=CA1667372279CITED2c.697A= (p.Ile233=)
c.712A= (p.Ile238=)
c.526A= (p.Ile176=)
6g.139373249C>ACA452441280CITED2c.696G>T (p.Val232=)
c.711G>T (p.Val237=)
c.525G>T (p.Val175=)
6g.139373249C>GCA452441281CITED2c.696G>C (p.Val232=)
c.711G>C (p.Val237=)
c.525G>C (p.Val175=)
 gnomAD v4
6g.139373249C>TCA452441282CITED2c.696G>A (p.Val232=)
c.711G>A (p.Val237=)
c.525G>A (p.Val175=)
6g.139373250A>CCA365876434CITED2c.695T>G (p.Val232Gly)
c.710T>G (p.Val237Gly)
c.524T>G (p.Val175Gly)
6g.139373250A>GCA365876435CITED2c.695T>C (p.Val232Ala)
c.710T>C (p.Val237Ala)
c.524T>C (p.Val175Ala)
 COSMIC
6g.139373250A>TCA365876436CITED2c.695T>A (p.Val232Glu)
c.710T>A (p.Val237Glu)
c.524T>A (p.Val175Glu)
6g.139373251C>ACA365876437CITED2c.694G>T (p.Val232Leu)
c.709G>T (p.Val237Leu)
c.523G>T (p.Val175Leu)
6g.139373251C>GCA365876439CITED2c.694G>C (p.Val232Leu)
c.709G>C (p.Val237Leu)
c.523G>C (p.Val175Leu)
6g.139373251C>TCA365876438CITED2c.694G>A (p.Val232Met)
c.709G>A (p.Val237Met)
c.523G>A (p.Val175Met)
 ClinVar gnomAD v4
6g.139373252C>ACA365876440CITED2c.693G>T (p.Leu231Phe)
c.708G>T (p.Leu236Phe)
c.522G>T (p.Leu174Phe)
6g.139373252C=CA1667372280CITED2c.693G= (p.Leu231=)
c.708G= (p.Leu236=)
c.522G= (p.Leu174=)
6g.139373252C>GCA365876441CITED2c.693G>C (p.Leu231Phe)
c.708G>C (p.Leu236Phe)
c.522G>C (p.Leu174Phe)
6g.139373252C>TCA452441290CITED2c.693G>A (p.Leu231=)
c.708G>A (p.Leu236=)
c.522G>A (p.Leu174=)
 dbSNP gnomAD v4
6g.139373253A>CCA365876442CITED2c.692T>G (p.Leu231Trp)
c.707T>G (p.Leu236Trp)
c.521T>G (p.Leu174Trp)
6g.139373253A>GCA365876443CITED2c.692T>C (p.Leu231Ser)
c.707T>C (p.Leu236Ser)
c.521T>C (p.Leu174Ser)
6g.139373253A>TCA365876444CITED2c.692T>A (p.Leu231Ter)
c.707T>A (p.Leu236Ter)
c.521T>A (p.Leu174Ter)
6g.139373254A>CCA365876445CITED2c.691T>G (p.Leu231Val)
c.706T>G (p.Leu236Val)
c.520T>G (p.Leu174Val)
6g.139373254A>GCA452441295CITED2c.691T>C (p.Leu231=)
c.706T>C (p.Leu236=)
c.520T>C (p.Leu174=)
6g.139373254A>TCA365876446CITED2c.691T>A (p.Leu231Met)
c.706T>A (p.Leu236Met)
c.520T>A (p.Leu174Met)
6g.139373255G>ACA148813786CITED2c.690C>T (p.Ser230=)
c.705C>T (p.Ser235=)
c.519C>T (p.Ser173=)
 dbSNP gnomAD v4 COSMIC
6g.139373255G>CCA452441299CITED2c.690C>G (p.Ser230=)
c.705C>G (p.Ser235=)
c.519C>G (p.Ser173=)
6g.139373255G=CA1667372281CITED2c.690C= (p.Ser230=)
c.705C= (p.Ser235=)
c.519C= (p.Ser173=)
6g.139373255G>TCA452441297CITED2c.690C>A (p.Ser230=)
c.705C>A (p.Ser235=)
c.519C>A (p.Ser173=)
6g.139373256G>ACA365876447CITED2c.689C>T (p.Ser230Phe)
c.704C>T (p.Ser235Phe)
c.518C>T (p.Ser173Phe)
 gnomAD v4
6g.139373256G>CCA365876448CITED2c.689C>G (p.Ser230Cys)
c.704C>G (p.Ser235Cys)
c.518C>G (p.Ser173Cys)
6g.139373256G>TCA365876449CITED2c.689C>A (p.Ser230Tyr)
c.704C>A (p.Ser235Tyr)
c.518C>A (p.Ser173Tyr)
6g.139373257A=CA1667372282CITED2c.688T= (p.Ser230=)
c.703T= (p.Ser235=)
c.517T= (p.Ser173=)
6g.139373257A>CCA365876450CITED2c.688T>G (p.Ser230Ala)
c.703T>G (p.Ser235Ala)
c.517T>G (p.Ser173Ala)
6g.139373257A>GCA365876451CITED2c.688T>C (p.Ser230Pro)
c.703T>C (p.Ser235Pro)
c.517T>C (p.Ser173Pro)
6g.139373257A>TCA365876452CITED2c.688T>A (p.Ser230Thr)
c.703T>A (p.Ser235Thr)
c.517T>A (p.Ser173Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.139373258C>ACA365876455CITED2c.687G>T (p.Met229Ile)
c.702G>T (p.Met234Ile)
c.516G>T (p.Met172Ile)
6g.139373258C>GCA365876453CITED2c.687G>C (p.Met229Ile)
c.702G>C (p.Met234Ile)
c.516G>C (p.Met172Ile)
6g.139373258C>TCA365876454CITED2c.687G>A (p.Met229Ile)
c.702G>A (p.Met234Ile)
c.516G>A (p.Met172Ile)
6g.139373259A=CA1667372283CITED2c.686T= (p.Met229=)
c.701T= (p.Met234=)
c.515T= (p.Met172=)
6g.139373259A>CCA365876456CITED2c.686T>G (p.Met229Arg)
c.701T>G (p.Met234Arg)
c.515T>G (p.Met172Arg)
6g.139373259A>GCA365876457CITED2c.686T>C (p.Met229Thr)
c.701T>C (p.Met234Thr)
c.515T>C (p.Met172Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373259A>TCA365876458CITED2c.686T>A (p.Met229Lys)
c.701T>A (p.Met234Lys)
c.515T>A (p.Met172Lys)
 dbSNP
6g.139373260_139373261dupCA2578756309CITED2c.685_686dup (p.Met229IlefsTer5)
c.700_701dup (p.Met234IlefsTer5)
c.514_515dup (p.Met172IlefsTer5)
6g.139373260_139373261delCA2695207110CITED2c.685_686del (p.Met229ValfsTer25)
c.700_701del (p.Met234ValfsTer25)
c.514_515del (p.Met172ValfsTer25)
6g.139373260T>ACA365876459CITED2c.685A>T (p.Met229Leu)
c.700A>T (p.Met234Leu)
c.514A>T (p.Met172Leu)
6g.139373260T>CCA365876460CITED2c.685A>G (p.Met229Val)
c.700A>G (p.Met234Val)
c.514A>G (p.Met172Val)
6g.139373260T>GCA365876461CITED2c.685A>C (p.Met229Leu)
c.700A>C (p.Met234Leu)
c.514A>C (p.Met172Leu)
 gnomAD v4
6g.139373261A>CCA452441387CITED2c.684T>G (p.Leu228=)
c.699T>G (p.Leu233=)
c.513T>G (p.Leu171=)
6g.139373261A>GCA452441388CITED2c.684T>C (p.Leu228=)
c.699T>C (p.Leu233=)
c.513T>C (p.Leu171=)
6g.139373261A>TCA452441389CITED2c.684T>A (p.Leu228=)
c.699T>A (p.Leu233=)
c.513T>A (p.Leu171=)
6g.139373263_139373265delCA2573052609CITED2c.682_684del (p.Leu228del)
c.697_699del (p.Leu233del)
c.511_513del (p.Leu171del)
 ClinVar dbSNP
6g.139373262A>CCA365876462CITED2c.683T>G (p.Leu228Arg)
c.698T>G (p.Leu233Arg)
c.512T>G (p.Leu171Arg)
6g.139373262A>GCA365876463CITED2c.683T>C (p.Leu228Pro)
c.698T>C (p.Leu233Pro)
c.512T>C (p.Leu171Pro)
6g.139373262A>TCA365876464CITED2c.683T>A (p.Leu228His)
c.698T>A (p.Leu233His)
c.512T>A (p.Leu171His)
6g.139373263G>ACA365876465CITED2c.682C>T (p.Leu228Phe)
c.697C>T (p.Leu233Phe)
c.511C>T (p.Leu171Phe)
6g.139373263G>CCA365876466CITED2c.682C>G (p.Leu228Val)
c.697C>G (p.Leu233Val)
c.511C>G (p.Leu171Val)
6g.139373263G>TCA365876467CITED2c.682C>A (p.Leu228Ile)
c.697C>A (p.Leu233Ile)
c.511C>A (p.Leu171Ile)
6g.139373264A>CCA452441394CITED2c.681T>G (p.Val227=)
c.696T>G (p.Val232=)
c.510T>G (p.Val170=)
6g.139373264A>GCA452441395CITED2c.681T>C (p.Val227=)
c.696T>C (p.Val232=)
c.510T>C (p.Val170=)
6g.139373264A>TCA452441396CITED2c.681T>A (p.Val227=)
c.696T>A (p.Val232=)
c.510T>A (p.Val170=)
 gnomAD v4
6g.139373265A>CCA365876469CITED2c.680T>G (p.Val227Gly)
c.695T>G (p.Val232Gly)
c.509T>G (p.Val170Gly)
 gnomAD v4
6g.139373265A>GCA365876470CITED2c.680T>C (p.Val227Ala)
c.695T>C (p.Val232Ala)
c.509T>C (p.Val170Ala)
6g.139373265A>TCA365876468CITED2c.680T>A (p.Val227Asp)
c.695T>A (p.Val232Asp)
c.509T>A (p.Val170Asp)
6g.139373266C>ACA365876472CITED2c.679G>T (p.Val227Phe)
c.694G>T (p.Val232Phe)
c.508G>T (p.Val170Phe)
6g.139373266C>GCA365876471CITED2c.679G>C (p.Val227Leu)
c.694G>C (p.Val232Leu)
c.508G>C (p.Val170Leu)
6g.139373266C>TCA365876473CITED2c.679G>A (p.Val227Ile)
c.694G>A (p.Val232Ile)
c.508G>A (p.Val170Ile)
6g.139373267T>ACA365876474CITED2c.678A>T (p.Glu226Asp)
c.693A>T (p.Glu231Asp)
c.507A>T (p.Glu169Asp)
6g.139373267T>CCA452441402CITED2c.678A>G (p.Glu226=)
c.693A>G (p.Glu231=)
c.507A>G (p.Glu169=)
6g.139373267T>GCA365876475CITED2c.678A>C (p.Glu226Asp)
c.693A>C (p.Glu231Asp)
c.507A>C (p.Glu169Asp)
6g.139373268T>ACA365876476CITED2c.677A>T (p.Glu226Val)
c.692A>T (p.Glu231Val)
c.506A>T (p.Glu169Val)
6g.139373268T>CCA365876478CITED2c.677A>G (p.Glu226Gly)
c.692A>G (p.Glu231Gly)
c.506A>G (p.Glu169Gly)
6g.139373268T>GCA365876477CITED2c.677A>C (p.Glu226Ala)
c.692A>C (p.Glu231Ala)
c.506A>C (p.Glu169Ala)
6g.139373269C>ACA365876479CITED2c.676G>T (p.Glu226Ter)
c.691G>T (p.Glu231Ter)
c.505G>T (p.Glu169Ter)
 gnomAD v4
6g.139373269C>GCA365876480CITED2c.676G>C (p.Glu226Gln)
c.691G>C (p.Glu231Gln)
c.505G>C (p.Glu169Gln)
6g.139373269C>TCA365876481CITED2c.676G>A (p.Glu226Lys)
c.691G>A (p.Glu231Lys)
c.505G>A (p.Glu169Lys)
 gnomAD v4
6g.139373270C>ACA365876482CITED2c.675G>T (p.Glu225Asp)
c.690G>T (p.Glu230Asp)
c.504G>T (p.Glu168Asp)
6g.139373270C=CA1667372284CITED2c.675G= (p.Glu225=)
c.690G= (p.Glu230=)
c.504G= (p.Glu168=)
6g.139373270C>GCA365876483CITED2c.675G>C (p.Glu225Asp)
c.690G>C (p.Glu230Asp)
c.504G>C (p.Glu168Asp)
6g.139373270C>TCA4025531CITED2c.675G>A (p.Glu225=)
c.690G>A (p.Glu230=)
c.504G>A (p.Glu168=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373271T>ACA365876484CITED2c.674A>T (p.Glu225Val)
c.689A>T (p.Glu230Val)
c.503A>T (p.Glu168Val)
6g.139373271T>CCA365876485CITED2c.674A>G (p.Glu225Gly)
c.689A>G (p.Glu230Gly)
c.503A>G (p.Glu168Gly)
6g.139373271T>GCA365876486CITED2c.674A>C (p.Glu225Ala)
c.689A>C (p.Glu230Ala)
c.503A>C (p.Glu168Ala)
6g.139373272C>ACA365876487CITED2c.673G>T (p.Glu225Ter)
c.688G>T (p.Glu230Ter)
c.502G>T (p.Glu168Ter)
6g.139373272C>GCA365876488CITED2c.673G>C (p.Glu225Gln)
c.688G>C (p.Glu230Gln)
c.502G>C (p.Glu168Gln)
6g.139373272C>TCA365876489CITED2c.673G>A (p.Glu225Lys)
c.688G>A (p.Glu230Lys)
c.502G>A (p.Glu168Lys)
6g.139373273G>ACA452441416CITED2c.672C>T (p.Asp224=)
c.687C>T (p.Asp229=)
c.501C>T (p.Asp167=)
 dbSNP gnomAD v3 gnomAD v4
6g.139373273G>CCA365876491CITED2c.672C>G (p.Asp224Glu)
c.687C>G (p.Asp229Glu)
c.501C>G (p.Asp167Glu)
6g.139373273G=CA1667372285CITED2c.672C= (p.Asp224=)
c.687C= (p.Asp229=)
c.501C= (p.Asp167=)
6g.139373273G>TCA365876490CITED2c.672C>A (p.Asp224Glu)
c.687C>A (p.Asp229Glu)
c.501C>A (p.Asp167Glu)
6g.139373274T>ACA365876492CITED2c.671A>T (p.Asp224Val)
c.686A>T (p.Asp229Val)
c.500A>T (p.Asp167Val)
6g.139373274T>CCA365876493CITED2c.671A>G (p.Asp224Gly)
c.686A>G (p.Asp229Gly)
c.500A>G (p.Asp167Gly)
 ClinVar dbSNP
6g.139373274T>GCA365876494CITED2c.671A>C (p.Asp224Ala)
c.686A>C (p.Asp229Ala)
c.500A>C (p.Asp167Ala)
6g.139373275C>ACA365876495CITED2c.670G>T (p.Asp224Tyr)
c.685G>T (p.Asp229Tyr)
c.499G>T (p.Asp167Tyr)
6g.139373275C>GCA365876496CITED2c.670G>C (p.Asp224His)
c.685G>C (p.Asp229His)
c.499G>C (p.Asp167His)
6g.139373275C>TCA365876497CITED2c.670G>A (p.Asp224Asn)
c.685G>A (p.Asp229Asn)
c.499G>A (p.Asp167Asn)
6g.139373276G>ACA452441420CITED2c.669C>T (p.Ile223=)
c.684C>T (p.Ile228=)
c.498C>T (p.Ile166=)
 gnomAD v4
6g.139373276G>CCA365876498CITED2c.669C>G (p.Ile223Met)
c.684C>G (p.Ile228Met)
c.498C>G (p.Ile166Met)
 COSMIC
6g.139373276G>TCA452441423CITED2c.669C>A (p.Ile223=)
c.684C>A (p.Ile228=)
c.498C>A (p.Ile166=)
6g.139373277A>CCA365876499CITED2c.668T>G (p.Ile223Ser)
c.683T>G (p.Ile228Ser)
c.497T>G (p.Ile166Ser)
6g.139373277A>GCA365876500CITED2c.668T>C (p.Ile223Thr)
c.683T>C (p.Ile228Thr)
c.497T>C (p.Ile166Thr)
6g.139373277A>TCA365876501CITED2c.668T>A (p.Ile223Asn)
c.683T>A (p.Ile228Asn)
c.497T>A (p.Ile166Asn)
6g.139373278T>ACA365876502CITED2c.667A>T (p.Ile223Phe)
c.682A>T (p.Ile228Phe)
c.496A>T (p.Ile166Phe)
6g.139373278T>CCA365876503CITED2c.667A>G (p.Ile223Val)
c.682A>G (p.Ile228Val)
c.496A>G (p.Ile166Val)
 gnomAD v4
6g.139373278T>GCA365876504CITED2c.667A>C (p.Ile223Leu)
c.682A>C (p.Ile228Leu)
c.496A>C (p.Ile166Leu)
 gnomAD v4
6g.139373279G>ACA452441426CITED2c.666C>T (p.Phe222=)
c.681C>T (p.Phe227=)
c.495C>T (p.Phe165=)
 gnomAD v4
6g.139373279G>CCA365876505CITED2c.666C>G (p.Phe222Leu)
c.681C>G (p.Phe227Leu)
c.495C>G (p.Phe165Leu)
6g.139373279G=CA1667372286CITED2c.666C= (p.Phe222=)
c.681C= (p.Phe227=)
c.495C= (p.Phe165=)
6g.139373279G>TCA365876506CITED2c.666C>A (p.Phe222Leu)
c.681C>A (p.Phe227Leu)
c.495C>A (p.Phe165Leu)
 dbSNP
6g.139373280A=CA1667372287CITED2c.665T= (p.Phe222=)
c.680T= (p.Phe227=)
c.494T= (p.Phe165=)
6g.139373280A>CCA4025532CITED2c.665T>G (p.Phe222Cys)
c.680T>G (p.Phe227Cys)
c.494T>G (p.Phe165Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373280A>GCA365876507CITED2c.665T>C (p.Phe222Ser)
c.680T>C (p.Phe227Ser)
c.494T>C (p.Phe165Ser)
6g.139373280A>TCA365876508CITED2c.665T>A (p.Phe222Tyr)
c.680T>A (p.Phe227Tyr)
c.494T>A (p.Phe165Tyr)
6g.139373281A>CCA365876509CITED2c.664T>G (p.Phe222Val)
c.679T>G (p.Phe227Val)
c.493T>G (p.Phe165Val)
6g.139373281A>GCA365876510CITED2c.664T>C (p.Phe222Leu)
c.679T>C (p.Phe227Leu)
c.493T>C (p.Phe165Leu)
6g.139373281A>TCA365876511CITED2c.664T>A (p.Phe222Ile)
c.679T>A (p.Phe227Ile)
c.493T>A (p.Phe165Ile)
6g.139373282A>CCA365876512CITED2c.663T>G (p.Asp221Glu)
c.678T>G (p.Asp226Glu)
c.492T>G (p.Asp164Glu)
6g.139373282A>GCA452441435CITED2c.663T>C (p.Asp221=)
c.678T>C (p.Asp226=)
c.492T>C (p.Asp164=)
6g.139373282A>TCA365876513CITED2c.663T>A (p.Asp221Glu)
c.678T>A (p.Asp226Glu)
c.492T>A (p.Asp164Glu)
6g.139373283T>ACA365876514CITED2c.662A>T (p.Asp221Val)
c.677A>T (p.Asp226Val)
c.491A>T (p.Asp164Val)
6g.139373283T>CCA365876515CITED2c.662A>G (p.Asp221Gly)
c.677A>G (p.Asp226Gly)
c.491A>G (p.Asp164Gly)
6g.139373283T>GCA365876516CITED2c.662A>C (p.Asp221Ala)
c.677A>C (p.Asp226Ala)
c.491A>C (p.Asp164Ala)
6g.139373284C>ACA365876517CITED2c.661G>T (p.Asp221Tyr)
c.676G>T (p.Asp226Tyr)
c.490G>T (p.Asp164Tyr)
6g.139373284C=CA1667372288CITED2c.661G= (p.Asp221=)
c.676G= (p.Asp226=)
c.490G= (p.Asp164=)
6g.139373284C>GCA365876518CITED2c.661G>C (p.Asp221His)
c.676G>C (p.Asp226His)
c.490G>C (p.Asp164His)
6g.139373284C>TCA4025533CITED2c.661G>A (p.Asp221Asn)
c.676G>A (p.Asp226Asn)
c.490G>A (p.Asp164Asn)
 dbSNP ExAC
6g.139373285A=CA1667372289CITED2c.660T= (p.Thr220=)
c.675T= (p.Thr225=)
c.489T= (p.Thr163=)
6g.139373285A>CCA452441439CITED2c.660T>G (p.Thr220=)
c.675T>G (p.Thr225=)
c.489T>G (p.Thr163=)
6g.139373285A>GCA4025534CITED2c.660T>C (p.Thr220=)
c.675T>C (p.Thr225=)
c.489T>C (p.Thr163=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373285A>TCA452441441CITED2c.660T>A (p.Thr220=)
c.675T>A (p.Thr225=)
c.489T>A (p.Thr163=)
6g.139373286G>ACA148813787CITED2c.659C>T (p.Thr220Ile)
c.674C>T (p.Thr225Ile)
c.488C>T (p.Thr163Ile)
 dbSNP gnomAD v4
6g.139373286G>CCA365876519CITED2c.659C>G (p.Thr220Ser)
c.674C>G (p.Thr225Ser)
c.488C>G (p.Thr163Ser)
6g.139373286G=CA1667372290CITED2c.659C= (p.Thr220=)
c.674C= (p.Thr225=)
c.488C= (p.Thr163=)
6g.139373286G>TCA365876520CITED2c.659C>A (p.Thr220Asn)
c.674C>A (p.Thr225Asn)
c.488C>A (p.Thr163Asn)
 gnomAD v4
6g.139373287T>ACA365876521CITED2c.658A>T (p.Thr220Ser)
c.673A>T (p.Thr225Ser)
c.487A>T (p.Thr163Ser)
6g.139373287T>CCA365876522CITED2c.658A>G (p.Thr220Ala)
c.673A>G (p.Thr225Ala)
c.487A>G (p.Thr163Ala)
 gnomAD v4
6g.139373287T>GCA365876523CITED2c.658A>C (p.Thr220Pro)
c.673A>C (p.Thr225Pro)
c.487A>C (p.Thr163Pro)
6g.139373288G>ACA4025535CITED2c.657C>T (p.Asp219=)
c.672C>T (p.Asp224=)
c.486C>T (p.Asp162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373288G>CCA365876524CITED2c.657C>G (p.Asp219Glu)
c.672C>G (p.Asp224Glu)
c.486C>G (p.Asp162Glu)
6g.139373288G=CA1667372291CITED2c.657C= (p.Asp219=)
c.672C= (p.Asp224=)
c.486C= (p.Asp162=)
6g.139373288G>TCA365876525CITED2c.657C>A (p.Asp219Glu)
c.672C>A (p.Asp224Glu)
c.486C>A (p.Asp162Glu)
6g.139373289T>ACA365876526CITED2c.656A>T (p.Asp219Val)
c.671A>T (p.Asp224Val)
c.485A>T (p.Asp162Val)
6g.139373289T>CCA365876527CITED2c.656A>G (p.Asp219Gly)
c.671A>G (p.Asp224Gly)
c.485A>G (p.Asp162Gly)
6g.139373289T>GCA365876528CITED2c.656A>C (p.Asp219Ala)
c.671A>C (p.Asp224Ala)
c.485A>C (p.Asp162Ala)
6g.139373290C>ACA365876530CITED2c.655G>T (p.Asp219Tyr)
c.670G>T (p.Asp224Tyr)
c.484G>T (p.Asp162Tyr)
6g.139373290C=CA1667372292CITED2c.655G= (p.Asp219=)
c.670G= (p.Asp224=)
c.484G= (p.Asp162=)
6g.139373290C>GCA4025536CITED2c.655G>C (p.Asp219His)
c.670G>C (p.Asp224His)
c.484G>C (p.Asp162His)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373290C>TCA365876529CITED2c.655G>A (p.Asp219Asn)
c.670G>A (p.Asp224Asn)
c.484G>A (p.Asp162Asn)
 dbSNP gnomAD v3 gnomAD v4
6g.139373291T>ACA452441453CITED2c.654A>T (p.Ile218=)
c.669A>T (p.Ile223=)
c.483A>T (p.Ile161=)
6g.139373291T>CCA365876531CITED2c.654A>G (p.Ile218Met)
c.669A>G (p.Ile223Met)
c.483A>G (p.Ile161Met)
6g.139373291T>GCA452441455CITED2c.654A>C (p.Ile218=)
c.669A>C (p.Ile223=)
c.483A>C (p.Ile161=)
6g.139373292A>CCA365876534CITED2c.653T>G (p.Ile218Arg)
c.668T>G (p.Ile223Arg)
c.482T>G (p.Ile161Arg)
6g.139373292A>GCA365876532CITED2c.653T>C (p.Ile218Thr)
c.668T>C (p.Ile223Thr)
c.482T>C (p.Ile161Thr)
 gnomAD v4
6g.139373292A>TCA365876533CITED2c.653T>A (p.Ile218Lys)
c.668T>A (p.Ile223Lys)
c.482T>A (p.Ile161Lys)
6g.139373293T>ACA365876535CITED2c.652A>T (p.Ile218Leu)
c.667A>T (p.Ile223Leu)
c.481A>T (p.Ile161Leu)
6g.139373293T>CCA365876536CITED2c.652A>G (p.Ile218Val)
c.667A>G (p.Ile223Val)
c.481A>G (p.Ile161Val)
 dbSNP gnomAD v4
6g.139373293T>GCA365876537CITED2c.652A>C (p.Ile218Leu)
c.667A>C (p.Ile223Leu)
c.481A>C (p.Ile161Leu)
6g.139373293T=CA1667372293CITED2c.652A= (p.Ile218=)
c.667A= (p.Ile223=)
c.481A= (p.Ile161=)
6g.139373294G>ACA452441458CITED2c.651C>T (p.Val217=)
c.666C>T (p.Val222=)
c.480C>T (p.Val160=)
 gnomAD v4
6g.139373294G>CCA452441459CITED2c.651C>G (p.Val217=)
c.666C>G (p.Val222=)
c.480C>G (p.Val160=)
 gnomAD v4
6g.139373294G>TCA452441461CITED2c.651C>A (p.Val217=)
c.666C>A (p.Val222=)
c.480C>A (p.Val160=)
 gnomAD v4
6g.139373295A>CCA365876538CITED2c.650T>G (p.Val217Gly)
c.665T>G (p.Val222Gly)
c.479T>G (p.Val160Gly)
6g.139373295A>GCA365876539CITED2c.650T>C (p.Val217Ala)
c.665T>C (p.Val222Ala)
c.479T>C (p.Val160Ala)
6g.139373295A>TCA365876540CITED2c.650T>A (p.Val217Asp)
c.665T>A (p.Val222Asp)
c.479T>A (p.Val160Asp)
6g.139373296C>ACA365876541CITED2c.649G>T (p.Val217Phe)
c.664G>T (p.Val222Phe)
c.478G>T (p.Val160Phe)
6g.139373296C=CA1667372294CITED2c.649G= (p.Val217=)
c.664G= (p.Val222=)
c.478G= (p.Val160=)
6g.139373296C>GCA365876542CITED2c.649G>C (p.Val217Leu)
c.664G>C (p.Val222Leu)
c.478G>C (p.Val160Leu)
6g.139373296C>TCA148813788CITED2c.649G>A (p.Val217Ile)
c.664G>A (p.Val222Ile)
c.478G>A (p.Val160Ile)
 dbSNP gnomAD v4
6g.139373297A=CA1667372295CITED2c.648T= (p.Asn216=)
c.663T= (p.Asn221=)
c.477T= (p.Asn159=)
6g.139373297A>CCA365876544CITED2c.648T>G (p.Asn216Lys)
c.663T>G (p.Asn221Lys)
c.477T>G (p.Asn159Lys)
6g.139373297A>GCA4025537CITED2c.648T>C (p.Asn216=)
c.663T>C (p.Asn221=)
c.477T>C (p.Asn159=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373297A>TCA365876543CITED2c.648T>A (p.Asn216Lys)
c.663T>A (p.Asn221Lys)
c.477T>A (p.Asn159Lys)
6g.139373298T>ACA365876545CITED2c.647A>T (p.Asn216Ile)
c.662A>T (p.Asn221Ile)
c.477-1A>T (n.477-1A>T)
6g.139373298T>CCA4025538CITED2c.647A>G (p.Asn216Ser)
c.662A>G (p.Asn221Ser)
c.477-1A>G (n.477-1A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373298T>GCA365876546CITED2c.647A>C (p.Asn216Thr)
c.662A>C (p.Asn221Thr)
c.477-1A>C (n.477-1A>C)
6g.139373298T=CA1667372296CITED2c.647A= (p.Asn216=)
c.662A= (p.Asn221=)
c.477-1A= (n.477-1A=)
6g.139373299T>ACA365876547CITED2c.646A>T (p.Asn216Tyr)
c.661A>T (p.Asn221Tyr)
c.477-2A>T (n.477-2A>T)
6g.139373299T>CCA365876548CITED2c.646A>G (p.Asn216Asp)
c.661A>G (p.Asn221Asp)
c.477-2A>G (n.477-2A>G)
6g.139373299T>GCA365876549CITED2c.646A>C (p.Asn216His)
c.661A>C (p.Asn221His)
c.477-2A>C (n.477-2A>C)
6g.139373300G>ACA452441471CITED2c.645C>T (p.Pro215=)
c.660C>T (p.Pro220=)
c.477-3C>T (n.477-3C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373300G>CCA452441474CITED2c.645C>G (p.Pro215=)
c.660C>G (p.Pro220=)
c.477-3C>G (n.477-3C>G)
6g.139373300G=CA1667372297CITED2c.645C= (p.Pro215=)
c.660C= (p.Pro220=)
c.477-3C= (n.477-3C=)
6g.139373300G>TCA452441473CITED2c.645C>A (p.Pro215=)
c.660C>A (p.Pro220=)
c.477-3C>A (n.477-3C>A)
6g.139373301G>ACA365876550CITED2c.644C>T (p.Pro215Leu)
c.659C>T (p.Pro220Leu)
c.477-4C>T (n.477-4C>T)
 gnomAD v4
6g.139373301G>CCA365876551CITED2c.644C>G (p.Pro215Arg)
c.659C>G (p.Pro220Arg)
c.477-4C>G (n.477-4C>G)
6g.139373301G>TCA365876552CITED2c.644C>A (p.Pro215His)
c.659C>A (p.Pro220His)
c.477-4C>A (n.477-4C>A)
6g.139373302G>ACA365876553CITED2c.643C>T (p.Pro215Ser)
c.658C>T (p.Pro220Ser)
c.477-5C>T (n.477-5C>T)
6g.139373302G>CCA365876554CITED2c.643C>G (p.Pro215Ala)
c.658C>G (p.Pro220Ala)
c.477-5C>G (n.477-5C>G)
6g.139373302G>TCA365876555CITED2c.643C>A (p.Pro215Thr)
c.658C>A (p.Pro220Thr)
c.477-5C>A (n.477-5C>A)
6g.139373303C>ACA452441480CITED2c.642G>T (p.Pro214=)
c.657G>T (p.Pro219=)
c.477-6G>T (n.477-6G>T)
 gnomAD v4
6g.139373303C>GCA452441482CITED2c.642G>C (p.Pro214=)
c.657G>C (p.Pro219=)
c.477-6G>C (n.477-6G>C)
6g.139373303C>TCA452441484CITED2c.642G>A (p.Pro214=)
c.657G>A (p.Pro219=)
c.477-6G>A (n.477-6G>A)
 gnomAD v4
6g.139373304G>ACA365876557CITED2c.641C>T (p.Pro214Leu)
c.656C>T (p.Pro219Leu)
c.477-7C>T (n.477-7C>T)
 dbSNP gnomAD v4
6g.139373304G>CCA365876558CITED2c.641C>G (p.Pro214Arg)
c.656C>G (p.Pro219Arg)
c.477-7C>G (n.477-7C>G)
 gnomAD v4
6g.139373304G=CA1667372298CITED2c.641C= (p.Pro214=)
c.656C= (p.Pro219=)
c.477-7C= (n.477-7C=)
6g.139373304G>TCA365876556CITED2c.641C>A (p.Pro214Gln)
c.656C>A (p.Pro219Gln)
c.477-7C>A (n.477-7C>A)
6g.139373305G>ACA365876559CITED2c.640C>T (p.Pro214Ser)
c.655C>T (p.Pro219Ser)
c.477-8C>T (n.477-8C>T)
6g.139373305G>CCA365876560CITED2c.640C>G (p.Pro214Ala)
c.655C>G (p.Pro219Ala)
c.477-8C>G (n.477-8C>G)
 gnomAD v4
6g.139373305G>TCA365876561CITED2c.640C>A (p.Pro214Thr)
c.655C>A (p.Pro219Thr)
c.477-8C>A (n.477-8C>A)
6g.139373306C>ACA452441488CITED2c.639G>T (p.Leu213=)
c.654G>T (p.Leu218=)
c.477-9G>T (n.477-9G>T)
 gnomAD v4
6g.139373306C>GCA452441489CITED2c.639G>C (p.Leu213=)
c.654G>C (p.Leu218=)
c.477-9G>C (n.477-9G>C)
6g.139373306C>TCA452441490CITED2c.639G>A (p.Leu213=)
c.654G>A (p.Leu218=)
c.477-9G>A (n.477-9G>A)
6g.139373307A>CCA365876562CITED2c.638T>G (p.Leu213Arg)
c.653T>G (p.Leu218Arg)
c.477-10T>G (n.477-10T>G)
6g.139373307A>GCA365876563CITED2c.638T>C (p.Leu213Pro)
c.653T>C (p.Leu218Pro)
c.477-10T>C (n.477-10T>C)
6g.139373307A>TCA365876564CITED2c.638T>A (p.Leu213Gln)
c.653T>A (p.Leu218Gln)
c.477-10T>A (n.477-10T>A)
6g.139373308G>ACA452441491CITED2c.637C>T (p.Leu213=)
c.652C>T (p.Leu218=)
c.477-11C>T (n.477-11C>T)
 gnomAD v4
6g.139373308G>CCA365876566CITED2c.637C>G (p.Leu213Val)
c.652C>G (p.Leu218Val)
c.477-11C>G (n.477-11C>G)
 gnomAD v4
6g.139373308G>TCA365876565CITED2c.637C>A (p.Leu213Met)
c.652C>A (p.Leu218Met)
c.477-11C>A (n.477-11C>A)
6g.139373309C>ACA365876567CITED2c.636G>T (p.Met212Ile)
c.651G>T (p.Met217Ile)
c.477-12G>T (n.477-12G>T)
6g.139373309C>GCA365876568CITED2c.636G>C (p.Met212Ile)
c.651G>C (p.Met217Ile)
c.477-12G>C (n.477-12G>C)
6g.139373309C>TCA365876569CITED2c.636G>A (p.Met212Ile)
c.651G>A (p.Met217Ile)
c.477-12G>A (n.477-12G>A)
 gnomAD v4
6g.139373310A=CA1667372299CITED2c.635T= (p.Met212=)
c.650T= (p.Met217=)
c.477-13T= (n.477-13T=)
6g.139373310A>CCA148813789CITED2c.635T>G (p.Met212Arg)
c.650T>G (p.Met217Arg)
c.477-13T>G (n.477-13T>G)
 dbSNP gnomAD v3 gnomAD v4
6g.139373310A>GCA365876570CITED2c.635T>C (p.Met212Thr)
c.650T>C (p.Met217Thr)
c.477-13T>C (n.477-13T>C)
6g.139373310A>TCA365876571CITED2c.635T>A (p.Met212Lys)
c.650T>A (p.Met217Lys)
c.477-13T>A (n.477-13T>A)
6g.139373311T>ACA365876572CITED2c.634A>T (p.Met212Leu)
c.649A>T (p.Met217Leu)
c.477-14A>T (n.477-14A>T)
6g.139373311T>CCA4025539CITED2c.634A>G (p.Met212Val)
c.649A>G (p.Met217Val)
c.477-14A>G (n.477-14A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373311T>GCA365876573CITED2c.634A>C (p.Met212Leu)
c.649A>C (p.Met217Leu)
c.477-14A>C (n.477-14A>C)
6g.139373311T=CA1667372300CITED2c.634A= (p.Met212=)
c.649A= (p.Met217=)
c.477-14A= (n.477-14A=)
6g.139373312T>ACA452441496CITED2c.633A>T (p.Ala211=)
c.648A>T (p.Ala216=)
c.477-15A>T (n.477-15A>T)
6g.139373312T>CCA148813790CITED2c.633A>G (p.Ala211=)
c.648A>G (p.Ala216=)
c.477-15A>G (n.477-15A>G)
 dbSNP
6g.139373312T>GCA452441497CITED2c.633A>C (p.Ala211=)
c.648A>C (p.Ala216=)
c.477-15A>C (n.477-15A>C)
6g.139373312T=CA1667372301CITED2c.633A= (p.Ala211=)
c.648A= (p.Ala216=)
c.477-15A= (n.477-15A=)
6g.139373313G>ACA365876574CITED2c.632C>T (p.Ala211Val)
c.647C>T (p.Ala216Val)
c.477-16C>T (n.477-16C>T)
6g.139373313G>CCA365876575CITED2c.632C>G (p.Ala211Gly)
c.647C>G (p.Ala216Gly)
c.477-16C>G (n.477-16C>G)
6g.139373313G>TCA365876576CITED2c.632C>A (p.Ala211Glu)
c.647C>A (p.Ala216Glu)
c.477-16C>A (n.477-16C>A)
6g.139373314C>ACA365876577CITED2c.631G>T (p.Ala211Ser)
c.646G>T (p.Ala216Ser)
c.477-17G>T (n.477-17G>T)
6g.139373314C>GCA365876578CITED2c.631G>C (p.Ala211Pro)
c.646G>C (p.Ala216Pro)
c.477-17G>C (n.477-17G>C)
6g.139373314C>TCA365876579CITED2c.631G>A (p.Ala211Thr)
c.646G>A (p.Ala216Thr)
c.477-17G>A (n.477-17G>A)
 gnomAD v4
6g.139373315A=CA1667372303CITED2c.630T= (p.Ala210=)
c.645T= (p.Ala215=)
c.477-18T= (n.477-18T=)
6g.139373315A>CCA4025540CITED2c.630T>G (p.Ala210=)
c.645T>G (p.Ala215=)
c.477-18T>G (n.477-18T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373315A>GCA452441501CITED2c.630T>C (p.Ala210=)
c.645T>C (p.Ala215=)
c.477-18T>C (n.477-18T>C)
6g.139373315A>TCA452441502CITED2c.630T>A (p.Ala210=)
c.645T>A (p.Ala215=)
c.477-18T>A (n.477-18T>A)
6g.139373315_139373316delinsAGCA1667372302CITED2c.629_630delinsCT (p.Ala210=)
c.644_645delinsCT (p.Ala215=)
c.477-19_477-18delinsCT (n.477-19_477-18delinsCT)
6g.139373315_139373316delinsCCCA148813791CITED2c.629_630delinsGG (p.Ala210Gly)
c.644_645delinsGG (p.Ala215Gly)
c.477-19_477-18delinsGG (n.477-19_477-18delinsGG)
 dbSNP
6g.139373316G>ACA365876580CITED2c.629C>T (p.Ala210Val)
c.644C>T (p.Ala215Val)
c.477-19C>T (n.477-19C>T)
6g.139373316G>CCA4025541CITED2c.629C>G (p.Ala210Gly)
c.644C>G (p.Ala215Gly)
c.477-19C>G (n.477-19C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373316G=CA1667372304CITED2c.629C= (p.Ala210=)
c.644C= (p.Ala215=)
c.477-19C= (n.477-19C=)
6g.139373316G>TCA365876581CITED2c.629C>A (p.Ala210Asp)
c.644C>A (p.Ala215Asp)
c.477-19C>A (n.477-19C>A)
6g.139373317C>ACA365876582CITED2c.628G>T (p.Ala210Ser)
c.643G>T (p.Ala215Ser)
c.477-20G>T (n.477-20G>T)
6g.139373317C=CA1667372305CITED2c.628G= (p.Ala210=)
c.643G= (p.Ala215=)
c.477-20G= (n.477-20G=)
6g.139373317C>GCA365876583CITED2c.628G>C (p.Ala210Pro)
c.643G>C (p.Ala215Pro)
c.477-20G>C (n.477-20G>C)
 gnomAD v4
6g.139373317C>TCA4025542CITED2c.628G>A (p.Ala210Thr)
c.643G>A (p.Ala215Thr)
c.477-20G>A (n.477-20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373318G>ACA4025543CITED2c.627C>T (p.Pro209=)
c.642C>T (p.Pro214=)
c.477-21C>T (n.477-21C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373318G>CCA4025544CITED2c.627C>G (p.Pro209=)
c.642C>G (p.Pro214=)
c.477-21C>G (n.477-21C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373318G=CA1667372306CITED2c.627C= (p.Pro209=)
c.642C= (p.Pro214=)
c.477-21C= (n.477-21C=)
6g.139373318G>TCA452441505CITED2c.627C>A (p.Pro209=)
c.642C>A (p.Pro214=)
c.477-21C>A (n.477-21C>A)
 COSMIC
6g.139373319G>ACA4025545CITED2c.626C>T (p.Pro209Leu)
c.641C>T (p.Pro214Leu)
c.477-22C>T (n.477-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373319G>CCA365876585CITED2c.626C>G (p.Pro209Arg)
c.641C>G (p.Pro214Arg)
c.477-22C>G (n.477-22C>G)
6g.139373319G=CA1667372307CITED2c.626C= (p.Pro209=)
c.641C= (p.Pro214=)
c.477-22C= (n.477-22C=)
6g.139373319G>TCA365876584CITED2c.626C>A (p.Pro209His)
c.641C>A (p.Pro214His)
c.477-22C>A (n.477-22C>A)
6g.139373320G>ACA365876586CITED2c.625C>T (p.Pro209Ser)
c.640C>T (p.Pro214Ser)
c.477-23C>T (n.477-23C>T)
6g.139373320G>CCA365876587CITED2c.625C>G (p.Pro209Ala)
c.640C>G (p.Pro214Ala)
c.477-23C>G (n.477-23C>G)
 gnomAD v4
6g.139373320G>TCA365876588CITED2c.625C>A (p.Pro209Thr)
c.640C>A (p.Pro214Thr)
c.477-23C>A (n.477-23C>A)
6g.139373321G>ACA452441506CITED2c.624C>T (p.Val208=)
c.639C>T (p.Val213=)
c.477-24C>T (n.477-24C>T)
6g.139373321G>CCA4025546CITED2c.624C>G (p.Val208=)
c.639C>G (p.Val213=)
c.477-24C>G (n.477-24C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373321G=CA1667372308CITED2c.624C= (p.Val208=)
c.639C= (p.Val213=)
c.477-24C= (n.477-24C=)
6g.139373321G>TCA452441507CITED2c.624C>A (p.Val208=)
c.639C>A (p.Val213=)
c.477-24C>A (n.477-24C>A)
6g.139373322A>CCA365876589CITED2c.623T>G (p.Val208Gly)
c.638T>G (p.Val213Gly)
c.477-25T>G (n.477-25T>G)
6g.139373322A>GCA365876590CITED2c.623T>C (p.Val208Ala)
c.638T>C (p.Val213Ala)
c.477-25T>C (n.477-25T>C)
6g.139373322A>TCA365876591CITED2c.623T>A (p.Val208Asp)
c.638T>A (p.Val213Asp)
c.477-25T>A (n.477-25T>A)
6g.139373323C>ACA365876592CITED2c.622G>T (p.Val208Phe)
c.637G>T (p.Val213Phe)
c.477-26G>T (n.477-26G>T)
6g.139373323C>GCA365876593CITED2c.622G>C (p.Val208Leu)
c.637G>C (p.Val213Leu)
c.477-26G>C (n.477-26G>C)
6g.139373323C>TCA365876594CITED2c.622G>A (p.Val208Ile)
c.637G>A (p.Val213Ile)
c.477-26G>A (n.477-26G>A)
6g.139373324G>ACA4025547CITED2c.621C>T (p.His207=)
c.636C>T (p.His212=)
c.477-27C>T (n.477-27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373324G>CCA365876595CITED2c.621C>G (p.His207Gln)
c.636C>G (p.His212Gln)
c.477-27C>G (n.477-27C>G)
 gnomAD v4
6g.139373324G=CA1667372309CITED2c.621C= (p.His207=)
c.636C= (p.His212=)
c.477-27C= (n.477-27C=)
6g.139373324G>TCA365876596CITED2c.621C>A (p.His207Gln)
c.636C>A (p.His212Gln)
c.477-27C>A (n.477-27C>A)
 gnomAD v4
6g.139373325T>ACA365876598CITED2c.620A>T (p.His207Leu)
c.635A>T (p.His212Leu)
c.477-28A>T (n.477-28A>T)
6g.139373325T>CCA4025548CITED2c.620A>G (p.His207Arg)
c.635A>G (p.His212Arg)
c.477-28A>G (n.477-28A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373325T>GCA365876597CITED2c.620A>C (p.His207Pro)
c.635A>C (p.His212Pro)
c.477-28A>C (n.477-28A>C)
6g.139373325T=CA1667372310CITED2c.620A= (p.His207=)
c.635A= (p.His212=)
c.477-28A= (n.477-28A=)
6g.139373326G>ACA365876599CITED2c.619C>T (p.His207Tyr)
c.634C>T (p.His212Tyr)
c.477-29C>T (n.477-29C>T)
 gnomAD v4
6g.139373326G>CCA365876600CITED2c.619C>G (p.His207Asp)
c.634C>G (p.His212Asp)
c.477-29C>G (n.477-29C>G)
6g.139373326G>TCA365876601CITED2c.619C>A (p.His207Asn)
c.634C>A (p.His212Asn)
c.477-29C>A (n.477-29C>A)
6g.139373327G>ACA452441519CITED2c.618C>T (p.Ala206=)
c.633C>T (p.Ala211=)
c.477-30C>T (n.477-30C>T)
6g.139373327G>CCA452441521CITED2c.618C>G (p.Ala206=)
c.633C>G (p.Ala211=)
c.477-30C>G (n.477-30C>G)
 dbSNP
6g.139373327G=CA1667372311CITED2c.618C= (p.Ala206=)
c.633C= (p.Ala211=)
c.477-30C= (n.477-30C=)
6g.139373327G>TCA452441523CITED2c.618C>A (p.Ala206=)
c.633C>A (p.Ala211=)
c.477-30C>A (n.477-30C>A)
6g.139373328G>ACA4025549CITED2c.617C>T (p.Ala206Val)
c.632C>T (p.Ala211Val)
c.477-31C>T (n.477-31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373328G>CCA365876602CITED2c.617C>G (p.Ala206Gly)
c.632C>G (p.Ala211Gly)
c.477-31C>G (n.477-31C>G)
6g.139373328G=CA1667372312CITED2c.617C= (p.Ala206=)
c.632C= (p.Ala211=)
c.477-31C= (n.477-31C=)
6g.139373328G>TCA365876603CITED2c.617C>A (p.Ala206Asp)
c.632C>A (p.Ala211Asp)
c.477-31C>A (n.477-31C>A)
6g.139373329C>ACA365876604CITED2c.616G>T (p.Ala206Ser)
c.631G>T (p.Ala211Ser)
c.477-32G>T (n.477-32G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373329C=CA1667372313CITED2c.616G= (p.Ala206=)
c.631G= (p.Ala211=)
c.477-32G= (n.477-32G=)
6g.139373329C>GCA365876605CITED2c.616G>C (p.Ala206Pro)
c.631G>C (p.Ala211Pro)
c.477-32G>C (n.477-32G>C)
6g.139373329C>TCA4025550CITED2c.616G>A (p.Ala206Thr)
c.631G>A (p.Ala211Thr)
c.477-32G>A (n.477-32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched