Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.11748966G>ACA370312629GATA4c.664G>A (p.Ala222Thr)
c.667G>A (p.Ala223Thr)
c.46G>A (p.Ala16Thr)
c.661G>A (p.Ala221Thr)
ClinVar dbSNP gnomAD v4
8g.11748966G>CCA370312630GATA4c.664G>C (p.Ala222Pro)
c.667G>C (p.Ala223Pro)
c.46G>C (p.Ala16Pro)
c.661G>C (p.Ala221Pro)
8g.11748966G=CA1764079666GATA4c.664G= (p.Ala222=)
c.667G= (p.Ala223=)
c.46G= (p.Ala16=)
c.661G= (p.Ala221=)
8g.11748966G>TCA370312631GATA4c.664G>T (p.Ala222Ser)
c.667G>T (p.Ala223Ser)
c.46G>T (p.Ala16Ser)
c.661G>T (p.Ala221Ser)
8g.11748966_11748967insACCTCAGTGTGAGGTGAGAGGCCA2779065966GATA4c.664_665insACCTCAGTGTGAGGTGAGAGGC (p.Ala222AspfsTer6)
c.667_668insACCTCAGTGTGAGGTGAGAGGC (p.Ala223AspfsTer6)
c.46_47insACCTCAGTGTGAGGTGAGAGGC (p.Ala16AspfsTer6)
c.661_662insACCTCAGTGTGAGGTGAGAGGC (p.Ala221AspfsTer6)
8g.11748967C>ACA370312632GATA4c.665C>A (p.Ala222Asp)
c.668C>A (p.Ala223Asp)
c.47C>A (p.Ala16Asp)
c.662C>A (p.Ala221Asp)
8g.11748967C>GCA370312633GATA4c.665C>G (p.Ala222Gly)
c.668C>G (p.Ala223Gly)
c.47C>G (p.Ala16Gly)
c.662C>G (p.Ala221Gly)
8g.11748967C>TCA370312634GATA4c.665C>T (p.Ala222Val)
c.668C>T (p.Ala223Val)
c.47C>T (p.Ala16Val)
c.662C>T (p.Ala221Val)
8g.11748968T>ACA459310188GATA4c.666T>A (p.Ala222=)
c.669T>A (p.Ala223=)
c.48T>A (p.Ala16=)
c.663T>A (p.Ala221=)
8g.11748968T>CCA459310189GATA4c.666T>C (p.Ala222=)
c.669T>C (p.Ala223=)
c.48T>C (p.Ala16=)
c.663T>C (p.Ala221=)
8g.11748968T>GCA459310191GATA4c.666T>G (p.Ala222=)
c.669T>G (p.Ala223=)
c.48T>G (p.Ala16=)
c.663T>G (p.Ala221=)
8g.11748969A=CA1764079669GATA4c.667A= (p.Met223=)
c.670A= (p.Met224=)
c.49A= (p.Met17=)
c.664A= (p.Met222=)
8g.11748969A>CCA172113118GATA4c.667A>C (p.Met223Leu)
c.670A>C (p.Met224Leu)
c.49A>C (p.Met17Leu)
c.664A>C (p.Met222Leu)
dbSNP
8g.11748969A>GCA370312635GATA4c.667A>G (p.Met223Val)
c.670A>G (p.Met224Val)
c.49A>G (p.Met17Val)
c.664A>G (p.Met222Val)
8g.11748969A>TCA370312636GATA4c.667A>T (p.Met223Leu)
c.670A>T (p.Met224Leu)
c.49A>T (p.Met17Leu)
c.664A>T (p.Met222Leu)
8g.11748969_11748970insGGGCCA2779065967GATA4c.667_668insGGGC (p.Met223ArgfsTer?)
c.670_671insGGGC (p.Met224ArgfsTer?)
c.49_50insGGGC (p.Met17ArgfsTer?)
c.664_665insGGGC (p.Met222ArgfsTer?)
8g.11748970T>ACA370312637GATA4c.668T>A (p.Met223Lys)
c.671T>A (p.Met224Lys)
c.50T>A (p.Met17Lys)
c.665T>A (p.Met222Lys)
8g.11748970T>CCA370312638GATA4c.668T>C (p.Met223Thr)
c.671T>C (p.Met224Thr)
c.50T>C (p.Met17Thr)
c.665T>C (p.Met222Thr)
8g.11748970T>GCA370312639GATA4c.668T>G (p.Met223Arg)
c.671T>G (p.Met224Arg)
c.50T>G (p.Met17Arg)
c.665T>G (p.Met222Arg)
8g.11748971G>ACA370312641GATA4c.669G>A (p.Met223Ile)
c.672G>A (p.Met224Ile)
c.51G>A (p.Met17Ile)
c.666G>A (p.Met222Ile)
8g.11748971G>CCA370312642GATA4c.669G>C (p.Met223Ile)
c.672G>C (p.Met224Ile)
c.51G>C (p.Met17Ile)
c.666G>C (p.Met222Ile)
8g.11748971G>TCA370312640GATA4c.669G>T (p.Met223Ile)
c.672G>T (p.Met224Ile)
c.51G>T (p.Met17Ile)
c.666G>T (p.Met222Ile)
8g.11748971_11748972insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTTCA2779065969GATA4c.669_670insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met223_Ser224insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe)
c.672_673insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met224_Ser225insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe)
c.51_52insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met17_Ser18insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe)
c.666_667insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met222_Ser223insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe)
8g.11748972T>ACA370312645GATA4c.670T>A (p.Ser224Thr)
c.673T>A (p.Ser225Thr)
c.52T>A (p.Ser18Thr)
c.667T>A (p.Ser223Thr)
8g.11748972T>CCA370312643GATA4c.670T>C (p.Ser224Pro)
c.673T>C (p.Ser225Pro)
c.52T>C (p.Ser18Pro)
c.667T>C (p.Ser223Pro)
8g.11748972T>GCA370312644GATA4c.670T>G (p.Ser224Ala)
c.673T>G (p.Ser225Ala)
c.52T>G (p.Ser18Ala)
c.667T>G (p.Ser223Ala)
8g.11748973C>ACA370312646GATA4c.671C>A (p.Ser224Tyr)
c.674C>A (p.Ser225Tyr)
c.53C>A (p.Ser18Tyr)
c.668C>A (p.Ser223Tyr)
8g.11748973C>GCA370312647GATA4c.671C>G (p.Ser224Cys)
c.674C>G (p.Ser225Cys)
c.53C>G (p.Ser18Cys)
c.668C>G (p.Ser223Cys)
8g.11748973C>TCA370312648GATA4c.671C>T (p.Ser224Phe)
c.674C>T (p.Ser225Phe)
c.53C>T (p.Ser18Phe)
c.668C>T (p.Ser223Phe)
8g.11748974C>ACA459310207GATA4c.672C>A (p.Ser224=)
c.675C>A (p.Ser225=)
c.54C>A (p.Ser18=)
c.669C>A (p.Ser223=)
8g.11748974C>GCA459310205GATA4c.672C>G (p.Ser224=)
c.675C>G (p.Ser225=)
c.54C>G (p.Ser18=)
c.669C>G (p.Ser223=)
8g.11748974C>TCA459310203GATA4c.672C>T (p.Ser224=)
c.675C>T (p.Ser225=)
c.54C>T (p.Ser18=)
c.669C>T (p.Ser223=)
8g.11748975A=CA1764079671GATA4c.673A= (p.Thr225=)
c.676A= (p.Thr226=)
c.55A= (p.Thr19=)
c.670A= (p.Thr224=)
8g.11748975A>CCA370312649GATA4c.673A>C (p.Thr225Pro)
c.676A>C (p.Thr226Pro)
c.55A>C (p.Thr19Pro)
c.670A>C (p.Thr224Pro)
dbSNP
8g.11748975A>GCA370312650GATA4c.673A>G (p.Thr225Ala)
c.676A>G (p.Thr226Ala)
c.55A>G (p.Thr19Ala)
c.670A>G (p.Thr224Ala)
8g.11748975A>TCA370312651GATA4c.673A>T (p.Thr225Ser)
c.676A>T (p.Thr226Ser)
c.55A>T (p.Thr19Ser)
c.670A>T (p.Thr224Ser)
8g.11748976C>ACA370312652GATA4c.674C>A (p.Thr225Asn)
c.677C>A (p.Thr226Asn)
c.56C>A (p.Thr19Asn)
c.671C>A (p.Thr224Asn)
8g.11748976C>GCA370312653GATA4c.674C>G (p.Thr225Ser)
c.677C>G (p.Thr226Ser)
c.56C>G (p.Thr19Ser)
c.671C>G (p.Thr224Ser)
8g.11748976C>TCA370312654GATA4c.674C>T (p.Thr225Ile)
c.677C>T (p.Thr226Ile)
c.56C>T (p.Thr19Ile)
c.671C>T (p.Thr224Ile)
gnomAD v4
8g.11748979delCA2695208946GATA4c.677del (p.Pro226ArgfsTer22)
c.680del (p.Pro227ArgfsTer22)
c.59del (p.Pro20ArgfsTer22)
c.674del (p.Pro225ArgfsTer22)
8g.11748977C>ACA459310214GATA4c.675C>A (p.Thr225=)
c.678C>A (p.Thr226=)
c.57C>A (p.Thr19=)
c.672C>A (p.Thr224=)
ClinVar
8g.11748977C=CA1764079675GATA4c.675C= (p.Thr225=)
c.678C= (p.Thr226=)
c.57C= (p.Thr19=)
c.672C= (p.Thr224=)
8g.11748977C>GCA459310217GATA4c.675C>G (p.Thr225=)
c.678C>G (p.Thr226=)
c.57C>G (p.Thr19=)
c.672C>G (p.Thr224=)
8g.11748977C>TCA4630660GATA4c.675C>T (p.Thr225=)
c.678C>T (p.Thr226=)
c.57C>T (p.Thr19=)
c.672C>T (p.Thr224=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11748978C>ACA370312656GATA4c.676C>A (p.Pro226Thr)
c.679C>A (p.Pro227Thr)
c.58C>A (p.Pro20Thr)
c.673C>A (p.Pro225Thr)
8g.11748978C=CA1764079680GATA4c.676C= (p.Pro226=)
c.679C= (p.Pro227=)
c.58C= (p.Pro20=)
c.673C= (p.Pro225=)
8g.11748978C>GCA172113126GATA4c.676C>G (p.Pro226Ala)
c.679C>G (p.Pro227Ala)
c.58C>G (p.Pro20Ala)
c.673C>G (p.Pro225Ala)
dbSNP gnomAD v4
8g.11748978C>TCA370312655GATA4c.676C>T (p.Pro226Ser)
c.679C>T (p.Pro227Ser)
c.58C>T (p.Pro20Ser)
c.673C>T (p.Pro225Ser)
8g.11748979C>ACA370312657GATA4c.677C>A (p.Pro226Gln)
c.680C>A (p.Pro227Gln)
c.59C>A (p.Pro20Gln)
c.674C>A (p.Pro225Gln)
8g.11748979C>GCA370312658GATA4c.677C>G (p.Pro226Arg)
c.680C>G (p.Pro227Arg)
c.59C>G (p.Pro20Arg)
c.674C>G (p.Pro225Arg)
8g.11748979C>TCA370312659GATA4c.677C>T (p.Pro226Leu)
c.680C>T (p.Pro227Leu)
c.59C>T (p.Pro20Leu)
c.674C>T (p.Pro225Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11748980G>ACA459310224GATA4c.678G>A (p.Pro226=)
c.681G>A (p.Pro227=)
c.60G>A (p.Pro20=)
c.675G>A (p.Pro225=)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11748980G>CCA459310226GATA4c.678G>C (p.Pro226=)
c.681G>C (p.Pro227=)
c.60G>C (p.Pro20=)
c.675G>C (p.Pro225=)
dbSNP gnomAD v3 gnomAD v4
8g.11748980G=CA1764079683GATA4c.678G= (p.Pro226=)
c.681G= (p.Pro227=)
c.60G= (p.Pro20=)
c.675G= (p.Pro225=)
8g.11748980G>TCA459310228GATA4c.678G>T (p.Pro226=)
c.681G>T (p.Pro227=)
c.60G>T (p.Pro20=)
c.675G>T (p.Pro225=)
8g.11748981C>ACA370312660GATA4c.679C>A (p.Leu227Ile)
c.682C>A (p.Leu228Ile)
c.61C>A (p.Leu21Ile)
c.676C>A (p.Leu226Ile)
8g.11748981C>GCA370312661GATA4c.679C>G (p.Leu227Val)
c.682C>G (p.Leu228Val)
c.61C>G (p.Leu21Val)
c.676C>G (p.Leu226Val)
8g.11748981C>TCA370312662GATA4c.679C>T (p.Leu227Phe)
c.682C>T (p.Leu228Phe)
c.61C>T (p.Leu21Phe)
c.676C>T (p.Leu226Phe)
8g.11748982T>ACA370312663GATA4c.680T>A (p.Leu227His)
c.683T>A (p.Leu228His)
c.62T>A (p.Leu21His)
c.677T>A (p.Leu226His)
8g.11748982T>CCA370312664GATA4c.680T>C (p.Leu227Pro)
c.683T>C (p.Leu228Pro)
c.62T>C (p.Leu21Pro)
c.677T>C (p.Leu226Pro)
ClinVar dbSNP
8g.11748982T>GCA370312665GATA4c.680T>G (p.Leu227Arg)
c.683T>G (p.Leu228Arg)
c.62T>G (p.Leu21Arg)
c.677T>G (p.Leu226Arg)
8g.11748983C>ACA459310235GATA4c.681C>A (p.Leu227=)
c.684C>A (p.Leu228=)
c.63C>A (p.Leu21=)
c.678C>A (p.Leu226=)
8g.11748983C=CA1764079687GATA4c.681C= (p.Leu227=)
c.684C= (p.Leu228=)
c.63C= (p.Leu21=)
c.678C= (p.Leu226=)
8g.11748983C>GCA459310236GATA4c.681C>G (p.Leu227=)
c.684C>G (p.Leu228=)
c.63C>G (p.Leu21=)
c.678C>G (p.Leu226=)
ClinVar dbSNP gnomAD v4
8g.11748983C>TCA459310239GATA4c.681C>T (p.Leu227=)
c.684C>T (p.Leu228=)
c.63C>T (p.Leu21=)
c.678C>T (p.Leu226=)
8g.11748984T>ACA347951GATA4c.682T>A (p.Trp228Arg)
c.685T>A (p.Trp229Arg)
c.64T>A (p.Trp22Arg)
c.679T>A (p.Trp227Arg)
ClinVar dbSNP
8g.11748984T>CCA370312666GATA4c.682T>C (p.Trp228Arg)
c.685T>C (p.Trp229Arg)
c.64T>C (p.Trp22Arg)
c.679T>C (p.Trp227Arg)
8g.11748984T>GCA370312667GATA4c.682T>G (p.Trp228Gly)
c.685T>G (p.Trp229Gly)
c.64T>G (p.Trp22Gly)
c.679T>G (p.Trp227Gly)
8g.11748984T=CA1764079690GATA4c.682T= (p.Trp228=)
c.685T= (p.Trp229=)
c.64T= (p.Trp22=)
c.679T= (p.Trp227=)
8g.11748985G>ACA370312669GATA4c.683G>A (p.Trp228Ter)
c.686G>A (p.Trp229Ter)
c.65G>A (p.Trp22Ter)
c.680G>A (p.Trp227Ter)
8g.11748985G>CCA370312670GATA4c.683G>C (p.Trp228Ser)
c.686G>C (p.Trp229Ser)
c.65G>C (p.Trp22Ser)
c.680G>C (p.Trp227Ser)
8g.11748985G>TCA370312668GATA4c.683G>T (p.Trp228Leu)
c.686G>T (p.Trp229Leu)
c.65G>T (p.Trp22Leu)
c.680G>T (p.Trp227Leu)
8g.11748986G>ACA370312671GATA4c.684G>A (p.Trp228Ter)
c.687G>A (p.Trp229Ter)
c.66G>A (p.Trp22Ter)
c.681G>A (p.Trp227Ter)
8g.11748986G>CCA370312672GATA4c.684G>C (p.Trp228Cys)
c.687G>C (p.Trp229Cys)
c.66G>C (p.Trp22Cys)
c.681G>C (p.Trp227Cys)
ClinVar dbSNP
8g.11748986G=CA1764079698GATA4c.684G= (p.Trp228=)
c.687G= (p.Trp229=)
c.66G= (p.Trp22=)
c.681G= (p.Trp227=)
8g.11748986G>TCA370312673GATA4c.684G>T (p.Trp228Cys)
c.687G>T (p.Trp229Cys)
c.66G>T (p.Trp22Cys)
c.681G>T (p.Trp227Cys)
8g.11748987A>CCA459310248GATA4c.685A>C (p.Arg229=)
c.688A>C (p.Arg230=)
c.67A>C (p.Arg23=)
c.682A>C (p.Arg228=)
gnomAD v4
8g.11748987A>GCA370312674GATA4c.685A>G (p.Arg229Gly)
c.688A>G (p.Arg230Gly)
c.67A>G (p.Arg23Gly)
c.682A>G (p.Arg228Gly)
8g.11748987A>TCA370312675GATA4c.685A>T (p.Arg229Trp)
c.688A>T (p.Arg230Trp)
c.67A>T (p.Arg23Trp)
c.682A>T (p.Arg228Trp)
8g.11748988G>ACA370312676GATA4c.686G>A (p.Arg229Lys)
c.689G>A (p.Arg230Lys)
c.68G>A (p.Arg23Lys)
c.683G>A (p.Arg228Lys)
8g.11748988G>CCA370312677GATA4c.686G>C (p.Arg229Thr)
c.689G>C (p.Arg230Thr)
c.68G>C (p.Arg23Thr)
c.683G>C (p.Arg228Thr)
8g.11748988G>TCA370312678GATA4c.686G>T (p.Arg229Met)
c.689G>T (p.Arg230Met)
c.68G>T (p.Arg23Met)
c.683G>T (p.Arg228Met)
8g.11748989G>ACA459310254GATA4c.687G>A (p.Arg229=)
c.690G>A (p.Arg230=)
c.69G>A (p.Arg23=)
c.684G>A (p.Arg228=)
8g.11748989G>CCA370312679GATA4c.687G>C (p.Arg229Ser)
c.690G>C (p.Arg230Ser)
c.69G>C (p.Arg23Ser)
c.684G>C (p.Arg228Ser)
8g.11748989G>TCA370312680GATA4c.687G>T (p.Arg229Ser)
c.690G>T (p.Arg230Ser)
c.69G>T (p.Arg23Ser)
c.684G>T (p.Arg228Ser)
8g.11748990C>ACA459310258GATA4c.688C>A (p.Arg230=)
c.691C>A (p.Arg231=)
c.70C>A (p.Arg24=)
c.685C>A (p.Arg229=)
8g.11748990C>GCA370312681GATA4c.688C>G (p.Arg230Gly)
c.691C>G (p.Arg231Gly)
c.70C>G (p.Arg24Gly)
c.685C>G (p.Arg229Gly)
8g.11748990C>TCA370312682GATA4c.688C>T (p.Arg230Ter)
c.691C>T (p.Arg231Ter)
c.70C>T (p.Arg24Ter)
c.685C>T (p.Arg229Ter)
ClinVar dbSNP COSMIC
8g.11748991G>ACA370312684GATA4c.689G>A (p.Arg230Gln)
c.692G>A (p.Arg231Gln)
c.71G>A (p.Arg24Gln)
c.686G>A (p.Arg229Gln)
ClinVar COSMIC
8g.11748991G>CCA370312685GATA4c.689G>C (p.Arg230Pro)
c.692G>C (p.Arg231Pro)
c.71G>C (p.Arg24Pro)
c.686G>C (p.Arg229Pro)
8g.11748991G>TCA370312683GATA4c.689G>T (p.Arg230Leu)
c.692G>T (p.Arg231Leu)
c.71G>T (p.Arg24Leu)
c.686G>T (p.Arg229Leu)
8g.11748992A=CA1764079703GATA4c.690A= (p.Arg230=)
c.693A= (p.Arg231=)
c.72A= (p.Arg24=)
c.687A= (p.Arg229=)
8g.11748992A>CCA459310264GATA4c.690A>C (p.Arg230=)
c.693A>C (p.Arg231=)
c.72A>C (p.Arg24=)
c.687A>C (p.Arg229=)
8g.11748992A>GCA459310265GATA4c.690A>G (p.Arg230=)
c.693A>G (p.Arg231=)
c.72A>G (p.Arg24=)
c.687A>G (p.Arg229=)
8g.11748992A>TCA459310267GATA4c.690A>T (p.Arg230=)
c.693A>T (p.Arg231=)
c.72A>T (p.Arg24=)
c.687A>T (p.Arg229=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11748993G>ACA370312686GATA4c.691G>A (p.Asp231Asn)
c.694G>A (p.Asp232Asn)
c.73G>A (p.Asp25Asn)
c.688G>A (p.Asp230Asn)
8g.11748993G>CCA370312687GATA4c.691G>C (p.Asp231His)
c.694G>C (p.Asp232His)
c.73G>C (p.Asp25His)
c.688G>C (p.Asp230His)
8g.11748993G>TCA370312688GATA4c.691G>T (p.Asp231Tyr)
c.694G>T (p.Asp232Tyr)
c.73G>T (p.Asp25Tyr)
c.688G>T (p.Asp230Tyr)
COSMIC
8g.11748994A>CCA370312689GATA4c.692A>C (p.Asp231Ala)
c.695A>C (p.Asp232Ala)
c.74A>C (p.Asp25Ala)
c.689A>C (p.Asp230Ala)
8g.11748994A>GCA370312690GATA4c.692A>G (p.Asp231Gly)
c.695A>G (p.Asp232Gly)
c.74A>G (p.Asp25Gly)
c.689A>G (p.Asp230Gly)
8g.11748994A>TCA370312691GATA4c.692A>T (p.Asp231Val)
c.695A>T (p.Asp232Val)
c.74A>T (p.Asp25Val)
c.689A>T (p.Asp230Val)
8g.11748995T>ACA370312693GATA4c.693T>A (p.Asp231Glu)
c.696T>A (p.Asp232Glu)
c.75T>A (p.Asp25Glu)
c.690T>A (p.Asp230Glu)
8g.11748995T>CCA459310273GATA4c.693T>C (p.Asp231=)
c.696T>C (p.Asp232=)
c.75T>C (p.Asp25=)
c.690T>C (p.Asp230=)
8g.11748995T>GCA370312692GATA4c.693T>G (p.Asp231Glu)
c.696T>G (p.Asp232Glu)
c.75T>G (p.Asp25Glu)
c.690T>G (p.Asp230Glu)
8g.11748996G>ACA370312694GATA4c.694G>A (p.Gly232Arg)
c.697G>A (p.Gly233Arg)
c.76G>A (p.Gly26Arg)
c.691G>A (p.Gly231Arg)
8g.11748996G>CCA370312695GATA4c.694G>C (p.Gly232Arg)
c.697G>C (p.Gly233Arg)
c.76G>C (p.Gly26Arg)
c.691G>C (p.Gly231Arg)
8g.11748996G>TCA370312696GATA4c.694G>T (p.Gly232Trp)
c.697G>T (p.Gly233Trp)
c.76G>T (p.Gly26Trp)
c.691G>T (p.Gly231Trp)
8g.11748997G>ACA370312697GATA4c.695G>A (p.Gly232Glu)
c.698G>A (p.Gly233Glu)
c.77G>A (p.Gly26Glu)
c.692G>A (p.Gly231Glu)
8g.11748997G>CCA370312698GATA4c.695G>C (p.Gly232Ala)
c.698G>C (p.Gly233Ala)
c.77G>C (p.Gly26Ala)
c.692G>C (p.Gly231Ala)
8g.11748997G>TCA370312699GATA4c.695G>T (p.Gly232Val)
c.698G>T (p.Gly233Val)
c.77G>T (p.Gly26Val)
c.692G>T (p.Gly231Val)
8g.11748998G>ACA459310282GATA4c.696G>A (p.Gly232=)
c.699G>A (p.Gly233=)
c.78G>A (p.Gly26=)
c.693G>A (p.Gly231=)
8g.11748998G>CCA459310281GATA4c.696G>C (p.Gly232=)
c.699G>C (p.Gly233=)
c.78G>C (p.Gly26=)
c.693G>C (p.Gly231=)
ClinVar dbSNP gnomAD v4
8g.11748998G>TCA459310279GATA4c.696G>T (p.Gly232=)
c.699G>T (p.Gly233=)
c.78G>T (p.Gly26=)
c.693G>T (p.Gly231=)
8g.11748999A=CA1764079706GATA4c.697A= (p.Thr233=)
c.700A= (p.Thr234=)
c.79A= (p.Thr27=)
c.694A= (p.Thr232=)
8g.11748999A>CCA370312702GATA4c.697A>C (p.Thr233Pro)
c.700A>C (p.Thr234Pro)
c.79A>C (p.Thr27Pro)
c.694A>C (p.Thr232Pro)
8g.11748999A>GCA370312701GATA4c.697A>G (p.Thr233Ala)
c.700A>G (p.Thr234Ala)
c.79A>G (p.Thr27Ala)
c.694A>G (p.Thr232Ala)
8g.11748999A>TCA370312700GATA4c.697A>T (p.Thr233Ser)
c.700A>T (p.Thr234Ser)
c.79A>T (p.Thr27Ser)
c.694A>T (p.Thr232Ser)
dbSNP
8g.11749000C>ACA370312703GATA4c.698C>A (p.Thr233Lys)
c.701C>A (p.Thr234Lys)
c.80C>A (p.Thr27Lys)
c.695C>A (p.Thr232Lys)
8g.11749000C>GCA370312705GATA4c.698C>G (p.Thr233Arg)
c.701C>G (p.Thr234Arg)
c.80C>G (p.Thr27Arg)
c.695C>G (p.Thr232Arg)
8g.11749000C>TCA370312704GATA4c.698C>T (p.Thr233Met)
c.701C>T (p.Thr234Met)
c.80C>T (p.Thr27Met)
c.695C>T (p.Thr232Met)
ClinVar dbSNP gnomAD v4 COSMIC
8g.11749001G>ACA133995GATA4c.699G>A (p.Thr233=)
c.702G>A (p.Thr234=)
c.81G>A (p.Thr27=)
c.696G>A (p.Thr232=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11749001G>CCA459310291GATA4c.699G>C (p.Thr233=)
c.702G>C (p.Thr234=)
c.81G>C (p.Thr27=)
c.696G>C (p.Thr232=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11749001G=CA1764079709GATA4c.699G= (p.Thr233=)
c.702G= (p.Thr234=)
c.81G= (p.Thr27=)
c.696G= (p.Thr232=)
8g.11749001G>TCA459310293GATA4c.699G>T (p.Thr233=)
c.702G>T (p.Thr234=)
c.81G>T (p.Thr27=)
c.696G>T (p.Thr232=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11749002G>ACA370312707GATA4c.700G>A (p.Gly234Ser)
c.703G>A (p.Gly235Ser)
c.82G>A (p.Gly28Ser)
c.697G>A (p.Gly233Ser)
8g.11749002G>CCA370312706GATA4c.700G>C (p.Gly234Arg)
c.703G>C (p.Gly235Arg)
c.82G>C (p.Gly28Arg)
c.697G>C (p.Gly233Arg)
8g.11749002G>TCA370312708GATA4c.700G>T (p.Gly234Cys)
c.703G>T (p.Gly235Cys)
c.82G>T (p.Gly28Cys)
c.697G>T (p.Gly233Cys)
8g.11749003G>ACA370312709GATA4c.701G>A (p.Gly234Asp)
c.704G>A (p.Gly235Asp)
c.83G>A (p.Gly28Asp)
c.698G>A (p.Gly233Asp)
8g.11749003G>CCA370312710GATA4c.701G>C (p.Gly234Ala)
c.704G>C (p.Gly235Ala)
c.83G>C (p.Gly28Ala)
c.698G>C (p.Gly233Ala)
8g.11749003G>TCA370312711GATA4c.701G>T (p.Gly234Val)
c.704G>T (p.Gly235Val)
c.83G>T (p.Gly28Val)
c.698G>T (p.Gly233Val)
8g.11749004T>ACA459310299GATA4c.702T>A (p.Gly234=)
c.705T>A (p.Gly235=)
c.84T>A (p.Gly28=)
c.699T>A (p.Gly233=)
8g.11749004T>CCA172113149GATA4c.702T>C (p.Gly234=)
c.705T>C (p.Gly235=)
c.84T>C (p.Gly28=)
c.699T>C (p.Gly233=)
dbSNP gnomAD v4
8g.11749004T>GCA459310300GATA4c.702T>G (p.Gly234=)
c.705T>G (p.Gly235=)
c.84T>G (p.Gly28=)
c.699T>G (p.Gly233=)
8g.11749004T=CA1764079713GATA4c.702T= (p.Gly234=)
c.705T= (p.Gly235=)
c.84T= (p.Gly28=)
c.699T= (p.Gly233=)
8g.11749005C>ACA370312712GATA4c.703C>A (p.His235Asn)
c.706C>A (p.His236Asn)
c.85C>A (p.His29Asn)
c.700C>A (p.His234Asn)
8g.11749005C>GCA370312713GATA4c.703C>G (p.His235Asp)
c.706C>G (p.His236Asp)
c.85C>G (p.His29Asp)
c.700C>G (p.His234Asp)
8g.11749005C>TCA370312714GATA4c.703C>T (p.His235Tyr)
c.706C>T (p.His236Tyr)
c.85C>T (p.His29Tyr)
c.700C>T (p.His234Tyr)
8g.11749006A>CCA370312715GATA4c.704A>C (p.His235Pro)
c.707A>C (p.His236Pro)
c.86A>C (p.His29Pro)
c.701A>C (p.His234Pro)
8g.11749006A>GCA370312716GATA4c.704A>G (p.His235Arg)
c.707A>G (p.His236Arg)
c.86A>G (p.His29Arg)
c.701A>G (p.His234Arg)
8g.11749006A>TCA370312717GATA4c.704A>T (p.His235Leu)
c.707A>T (p.His236Leu)
c.86A>T (p.His29Leu)
c.701A>T (p.His234Leu)
8g.11749007C>ACA370312718GATA4c.705C>A (p.His235Gln)
c.708C>A (p.His236Gln)
c.87C>A (p.His29Gln)
c.702C>A (p.His234Gln)
8g.11749007C>GCA370312719GATA4c.705C>G (p.His235Gln)
c.708C>G (p.His236Gln)
c.87C>G (p.His29Gln)
c.702C>G (p.His234Gln)
8g.11749007C>TCA459310308GATA4c.705C>T (p.His235=)
c.708C>T (p.His236=)
c.87C>T (p.His29=)
c.702C>T (p.His234=)
gnomAD v4
8g.11749008T>ACA370312722GATA4c.706T>A (p.Tyr236Asn)
c.709T>A (p.Tyr237Asn)
c.88T>A (p.Tyr30Asn)
c.703T>A (p.Tyr235Asn)
8g.11749008T>CCA370312720GATA4c.706T>C (p.Tyr236His)
c.709T>C (p.Tyr237His)
c.88T>C (p.Tyr30His)
c.703T>C (p.Tyr235His)
8g.11749008T>GCA370312721GATA4c.706T>G (p.Tyr236Asp)
c.709T>G (p.Tyr237Asp)
c.88T>G (p.Tyr30Asp)
c.703T>G (p.Tyr235Asp)
8g.11749009A=CA1764079718GATA4c.707A= (p.Tyr236=)
c.710A= (p.Tyr237=)
c.89A= (p.Tyr30=)
c.704A= (p.Tyr235=)
8g.11749009A>CCA370312723GATA4c.707A>C (p.Tyr236Ser)
c.710A>C (p.Tyr237Ser)
c.89A>C (p.Tyr30Ser)
c.704A>C (p.Tyr235Ser)
8g.11749009A>GCA370312724GATA4c.707A>G (p.Tyr236Cys)
c.710A>G (p.Tyr237Cys)
c.89A>G (p.Tyr30Cys)
c.704A>G (p.Tyr235Cys)
dbSNP
8g.11749009A>TCA370312725GATA4c.707A>T (p.Tyr236Phe)
c.710A>T (p.Tyr237Phe)
c.89A>T (p.Tyr30Phe)
c.704A>T (p.Tyr235Phe)
8g.11749010T>ACA370312726GATA4c.708T>A (p.Tyr236Ter)
c.711T>A (p.Tyr237Ter)
c.90T>A (p.Tyr30Ter)
c.705T>A (p.Tyr235Ter)
8g.11749010T>CCA459310317GATA4c.708T>C (p.Tyr236=)
c.711T>C (p.Tyr237=)
c.90T>C (p.Tyr30=)
c.705T>C (p.Tyr235=)
8g.11749010T>GCA370312727GATA4c.708T>G (p.Tyr236Ter)
c.711T>G (p.Tyr237Ter)
c.90T>G (p.Tyr30Ter)
c.705T>G (p.Tyr235Ter)
8g.11749011C>ACA370312728GATA4c.709C>A (p.Leu237Met)
c.712C>A (p.Leu238Met)
c.91C>A (p.Leu31Met)
c.706C>A (p.Leu236Met)
8g.11749011C>GCA370312729GATA4c.709C>G (p.Leu237Val)
c.712C>G (p.Leu238Val)
c.91C>G (p.Leu31Val)
c.706C>G (p.Leu236Val)
gnomAD v4
8g.11749011C>TCA459310320GATA4c.709C>T (p.Leu237=)
c.712C>T (p.Leu238=)
c.91C>T (p.Leu31=)
c.706C>T (p.Leu236=)
8g.11749012T>ACA370312730GATA4c.710T>A (p.Leu237Gln)
c.713T>A (p.Leu238Gln)
c.92T>A (p.Leu31Gln)
c.707T>A (p.Leu236Gln)
dbSNP
8g.11749012T>CCA370312731GATA4c.710T>C (p.Leu237Pro)
c.713T>C (p.Leu238Pro)
c.92T>C (p.Leu31Pro)
c.707T>C (p.Leu236Pro)
dbSNP gnomAD v3 gnomAD v4
8g.11749012T>GCA370312732GATA4c.710T>G (p.Leu237Arg)
c.713T>G (p.Leu238Arg)
c.92T>G (p.Leu31Arg)
c.707T>G (p.Leu236Arg)
8g.11749012T=CA1764079722GATA4c.710T= (p.Leu237=)
c.713T= (p.Leu238=)
c.92T= (p.Leu31=)
c.707T= (p.Leu236=)
8g.11749013G>ACA459310325GATA4c.711G>A (p.Leu237=)
c.714G>A (p.Leu238=)
c.93G>A (p.Leu31=)
c.708G>A (p.Leu236=)
gnomAD v4
8g.11749013G>CCA459310327GATA4c.711G>C (p.Leu237=)
c.714G>C (p.Leu238=)
c.93G>C (p.Leu31=)
c.708G>C (p.Leu236=)
8g.11749013G>TCA459310329GATA4c.711G>T (p.Leu237=)
c.714G>T (p.Leu238=)
c.93G>T (p.Leu31=)
c.708G>T (p.Leu236=)
8g.11749014T>ACA370312735GATA4c.712T>A (p.Cys238Ser)
c.715T>A (p.Cys239Ser)
c.94T>A (p.Cys32Ser)
c.709T>A (p.Cys237Ser)
8g.11749014T>CCA370312734GATA4c.712T>C (p.Cys238Arg)
c.715T>C (p.Cys239Arg)
c.94T>C (p.Cys32Arg)
c.709T>C (p.Cys237Arg)
8g.11749014T>GCA370312733GATA4c.712T>G (p.Cys238Gly)
c.715T>G (p.Cys239Gly)
c.94T>G (p.Cys32Gly)
c.709T>G (p.Cys237Gly)
8g.11749015G>ACA370312736GATA4c.713G>A (p.Cys238Tyr)
c.716G>A (p.Cys239Tyr)
c.95G>A (p.Cys32Tyr)
c.710G>A (p.Cys237Tyr)
8g.11749015G>CCA370312737GATA4c.713G>C (p.Cys238Ser)
c.716G>C (p.Cys239Ser)
c.95G>C (p.Cys32Ser)
c.710G>C (p.Cys237Ser)
8g.11749015G>TCA370312738GATA4c.713G>T (p.Cys238Phe)
c.716G>T (p.Cys239Phe)
c.95G>T (p.Cys32Phe)
c.710G>T (p.Cys237Phe)
ClinVar
8g.11749016C>ACA370312739GATA4c.714C>A (p.Cys238Ter)
c.717C>A (p.Cys239Ter)
c.96C>A (p.Cys32Ter)
c.711C>A (p.Cys237Ter)
8g.11749016C>GCA370312740GATA4c.714C>G (p.Cys238Trp)
c.717C>G (p.Cys239Trp)
c.96C>G (p.Cys32Trp)
c.711C>G (p.Cys237Trp)
8g.11749016C>TCA459310335GATA4c.714C>T (p.Cys238=)
c.717C>T (p.Cys239=)
c.96C>T (p.Cys32=)
c.711C>T (p.Cys237=)
gnomAD v4
8g.11749017A>CCA370312741GATA4c.715A>C (p.Asn239His)
c.718A>C (p.Asn240His)
c.97A>C (p.Asn33His)
c.712A>C (p.Asn238His)
8g.11749017A>GCA370312742GATA4c.715A>G (p.Asn239Asp)
c.718A>G (p.Asn240Asp)
c.97A>G (p.Asn33Asp)
c.712A>G (p.Asn238Asp)
8g.11749017A>TCA370312743GATA4c.715A>T (p.Asn239Tyr)
c.718A>T (p.Asn240Tyr)
c.97A>T (p.Asn33Tyr)
c.712A>T (p.Asn238Tyr)
8g.11749018A>CCA370312744GATA4c.716A>C (p.Asn239Thr)
c.719A>C (p.Asn240Thr)
c.98A>C (p.Asn33Thr)
c.713A>C (p.Asn238Thr)
8g.11749018A>GCA370312745GATA4c.716A>G (p.Asn239Ser)
c.719A>G (p.Asn240Ser)
c.98A>G (p.Asn33Ser)
c.713A>G (p.Asn238Ser)
gnomAD v4
8g.11749018A>TCA370312746GATA4c.716A>T (p.Asn239Ile)
c.719A>T (p.Asn240Ile)
c.98A>T (p.Asn33Ile)
c.713A>T (p.Asn238Ile)
8g.11749019delCA2695208947GATA4c.717del (p.Asn239LysfsTer9)
c.720del (p.Asn240LysfsTer9)
c.99del (p.Asn33LysfsTer9)
c.714del (p.Asn238LysfsTer9)
8g.11749019C>ACA370312748GATA4c.717C>A (p.Asn239Lys)
c.720C>A (p.Asn240Lys)
c.99C>A (p.Asn33Lys)
c.714C>A (p.Asn238Lys)
8g.11749019C=CA1764079727GATA4c.717C= (p.Asn239=)
c.720C= (p.Asn240=)
c.99C= (p.Asn33=)
c.714C= (p.Asn238=)
8g.11749019C>GCA370312747GATA4c.717C>G (p.Asn239Lys)
c.720C>G (p.Asn240Lys)
c.99C>G (p.Asn33Lys)
c.714C>G (p.Asn238Lys)
8g.11749019C>TCA4630661GATA4c.717C>T (p.Asn239=)
c.720C>T (p.Asn240=)
c.99C>T (p.Asn33=)
c.714C>T (p.Asn238=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11749020G>ACA370312749GATA4c.718G>A (p.Ala240Thr)
c.721G>A (p.Ala241Thr)
c.100G>A (p.Ala34Thr)
c.715G>A (p.Ala239Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.11749020G>CCA370312750GATA4c.718G>C (p.Ala240Pro)
c.721G>C (p.Ala241Pro)
c.100G>C (p.Ala34Pro)
c.715G>C (p.Ala239Pro)
8g.11749020G=CA1764079734GATA4c.718G= (p.Ala240=)
c.721G= (p.Ala241=)
c.100G= (p.Ala34=)
c.715G= (p.Ala239=)
8g.11749020G>TCA370312751GATA4c.718G>T (p.Ala240Ser)
c.721G>T (p.Ala241Ser)
c.100G>T (p.Ala34Ser)
c.715G>T (p.Ala239Ser)
8g.11749021C>ACA370312752GATA4c.719C>A (p.Ala240Asp)
c.722C>A (p.Ala241Asp)
c.101C>A (p.Ala34Asp)
c.716C>A (p.Ala239Asp)
8g.11749021C>GCA370312753GATA4c.719C>G (p.Ala240Gly)
c.722C>G (p.Ala241Gly)
c.101C>G (p.Ala34Gly)
c.716C>G (p.Ala239Gly)
8g.11749021C>TCA370312754GATA4c.719C>T (p.Ala240Val)
c.722C>T (p.Ala241Val)
c.101C>T (p.Ala34Val)
c.716C>T (p.Ala239Val)
gnomAD v4
8g.11749022C>ACA459310344GATA4c.720C>A (p.Ala240=)
c.723C>A (p.Ala241=)
c.102C>A (p.Ala34=)
c.717C>A (p.Ala239=)
8g.11749022C>GCA459310346GATA4c.720C>G (p.Ala240=)
c.723C>G (p.Ala241=)
c.102C>G (p.Ala34=)
c.717C>G (p.Ala239=)
8g.11749022C>TCA459310348GATA4c.720C>T (p.Ala240=)
c.723C>T (p.Ala241=)
c.102C>T (p.Ala34=)
c.717C>T (p.Ala239=)
8g.11749023T>ACA370312755GATA4c.721T>A (p.Cys241Ser)
c.724T>A (p.Cys242Ser)
c.103T>A (p.Cys35Ser)
c.718T>A (p.Cys240Ser)
8g.11749023T>CCA370312756GATA4c.721T>C (p.Cys241Arg)
c.724T>C (p.Cys242Arg)
c.103T>C (p.Cys35Arg)
c.718T>C (p.Cys240Arg)
8g.11749023T>GCA370312757GATA4c.721T>G (p.Cys241Gly)
c.724T>G (p.Cys242Gly)
c.103T>G (p.Cys35Gly)
c.718T>G (p.Cys240Gly)
8g.11749024G>ACA370312758GATA4c.722G>A (p.Cys241Tyr)
c.725G>A (p.Cys242Tyr)
c.104G>A (p.Cys35Tyr)
c.719G>A (p.Cys240Tyr)
8g.11749024G>CCA370312759GATA4c.722G>C (p.Cys241Ser)
c.725G>C (p.Cys242Ser)
c.104G>C (p.Cys35Ser)
c.719G>C (p.Cys240Ser)
8g.11749024G>TCA370312760GATA4c.722G>T (p.Cys241Phe)
c.725G>T (p.Cys242Phe)
c.104G>T (p.Cys35Phe)
c.719G>T (p.Cys240Phe)
8g.11749025C>ACA370312761GATA4c.723C>A (p.Cys241Ter)
c.726C>A (p.Cys242Ter)
c.105C>A (p.Cys35Ter)
c.720C>A (p.Cys240Ter)
8g.11749025C=CA1764079738GATA4c.723C= (p.Cys241=)
c.726C= (p.Cys242=)
c.105C= (p.Cys35=)
c.720C= (p.Cys240=)
8g.11749025C>GCA370312762GATA4c.723C>G (p.Cys241Trp)
c.726C>G (p.Cys242Trp)
c.105C>G (p.Cys35Trp)
c.720C>G (p.Cys240Trp)
8g.11749025C>TCA4630662GATA4c.723C>T (p.Cys241=)
c.726C>T (p.Cys242=)
c.105C>T (p.Cys35=)
c.720C>T (p.Cys240=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11749026G>ACA16612345GATA4c.724G>A (p.Gly242Ser)
c.727G>A (p.Gly243Ser)
c.106G>A (p.Gly36Ser)
c.721G>A (p.Gly241Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11749026G>CCA370312763GATA4c.724G>C (p.Gly242Arg)
c.727G>C (p.Gly243Arg)
c.106G>C (p.Gly36Arg)
c.721G>C (p.Gly241Arg)
8g.11749026G=CA1764079743GATA4c.724G= (p.Gly242=)
c.727G= (p.Gly243=)
c.106G= (p.Gly36=)
c.721G= (p.Gly241=)
8g.11749026G>TCA370312764GATA4c.724G>T (p.Gly242Cys)
c.727G>T (p.Gly243Cys)
c.106G>T (p.Gly36Cys)
c.721G>T (p.Gly241Cys)
8g.11749027G>ACA370312765GATA4c.725G>A (p.Gly242Asp)
c.728G>A (p.Gly243Asp)
c.107G>A (p.Gly36Asp)
c.722G>A (p.Gly241Asp)
8g.11749027G>CCA370312766GATA4c.725G>C (p.Gly242Ala)
c.728G>C (p.Gly243Ala)
c.107G>C (p.Gly36Ala)
c.722G>C (p.Gly241Ala)
8g.11749027G>TCA370312767GATA4c.725G>T (p.Gly242Val)
c.728G>T (p.Gly243Val)
c.107G>T (p.Gly36Val)
c.722G>T (p.Gly241Val)
8g.11749028C>ACA459310367GATA4c.726C>A (p.Gly242=)
c.729C>A (p.Gly243=)
c.108C>A (p.Gly36=)
c.723C>A (p.Gly241=)
8g.11749028C=CA1764079748GATA4c.726C= (p.Gly242=)
c.729C= (p.Gly243=)
c.108C= (p.Gly36=)
c.723C= (p.Gly241=)
8g.11749028C>GCA459310369GATA4c.726C>G (p.Gly242=)
c.729C>G (p.Gly243=)
c.108C>G (p.Gly36=)
c.723C>G (p.Gly241=)
8g.11749028C>TCA459310371GATA4c.726C>T (p.Gly242=)
c.729C>T (p.Gly243=)
c.108C>T (p.Gly36=)
c.723C>T (p.Gly241=)
dbSNP gnomAD v2 gnomAD v4
8g.11749029C>ACA370312768GATA4c.727C>A (p.Leu243Ile)
c.730C>A (p.Leu244Ile)
c.109C>A (p.Leu37Ile)
c.724C>A (p.Leu242Ile)
8g.11749029C=CA1764079751GATA4c.727C= (p.Leu243=)
c.730C= (p.Leu244=)
c.109C= (p.Leu37=)
c.724C= (p.Leu242=)
8g.11749029C>GCA4630663GATA4c.727C>G (p.Leu243Val)
c.730C>G (p.Leu244Val)
c.109C>G (p.Leu37Val)
c.724C>G (p.Leu242Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11749029C>TCA370312769GATA4c.727C>T (p.Leu243Phe)
c.730C>T (p.Leu244Phe)
c.109C>T (p.Leu37Phe)
c.724C>T (p.Leu242Phe)
8g.11749030T>ACA370312770GATA4c.728T>A (p.Leu243His)
c.731T>A (p.Leu244His)
c.110T>A (p.Leu37His)
c.725T>A (p.Leu242His)
8g.11749030T>CCA370312771GATA4c.728T>C (p.Leu243Pro)
c.731T>C (p.Leu244Pro)
c.110T>C (p.Leu37Pro)
c.725T>C (p.Leu242Pro)
8g.11749030T>GCA370312772GATA4c.728T>G (p.Leu243Arg)
c.731T>G (p.Leu244Arg)
c.110T>G (p.Leu37Arg)
c.725T>G (p.Leu242Arg)
8g.11749031C>ACA459310378GATA4c.729C>A (p.Leu243=)
c.732C>A (p.Leu244=)
c.111C>A (p.Leu37=)
c.726C>A (p.Leu242=)
8g.11749031C=CA1764079754GATA4c.729C= (p.Leu243=)
c.732C= (p.Leu244=)
c.111C= (p.Leu37=)
c.726C= (p.Leu242=)
8g.11749031C>GCA4630664GATA4c.729C>G (p.Leu243=)
c.732C>G (p.Leu244=)
c.111C>G (p.Leu37=)
c.726C>G (p.Leu242=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11749031C>TCA459310381GATA4c.729C>T (p.Leu243=)
c.732C>T (p.Leu244=)
c.111C>T (p.Leu37=)
c.726C>T (p.Leu242=)
8g.11749032T>ACA370312775GATA4c.730T>A (p.Tyr244Asn)
c.733T>A (p.Tyr245Asn)
c.112T>A (p.Tyr38Asn)
c.727T>A (p.Tyr243Asn)
dbSNP
8g.11749032T>CCA370312773GATA4c.730T>C (p.Tyr244His)
c.733T>C (p.Tyr245His)
c.112T>C (p.Tyr38His)
c.727T>C (p.Tyr243His)
8g.11749032T>GCA370312774GATA4c.730T>G (p.Tyr244Asp)
c.733T>G (p.Tyr245Asp)
c.112T>G (p.Tyr38Asp)
c.727T>G (p.Tyr243Asp)
8g.11749032T=CA1764079761GATA4c.730T= (p.Tyr244=)
c.733T= (p.Tyr245=)
c.112T= (p.Tyr38=)
c.727T= (p.Tyr243=)
8g.11749033A>CCA370312776GATA4c.731A>C (p.Tyr244Ser)
c.734A>C (p.Tyr245Ser)
c.113A>C (p.Tyr38Ser)
c.728A>C (p.Tyr243Ser)
8g.11749033A>GCA370312777GATA4c.731A>G (p.Tyr244Cys)
c.734A>G (p.Tyr245Cys)
c.113A>G (p.Tyr38Cys)
c.728A>G (p.Tyr243Cys)
8g.11749033A>TCA370312778GATA4c.731A>T (p.Tyr244Phe)
c.734A>T (p.Tyr245Phe)
c.113A>T (p.Tyr38Phe)
c.728A>T (p.Tyr243Phe)
8g.11749034C>ACA370312779GATA4c.732C>A (p.Tyr244Ter)
c.735C>A (p.Tyr245Ter)
c.114C>A (p.Tyr38Ter)
c.729C>A (p.Tyr243Ter)
8g.11749034C=CA1764079765GATA4c.732C= (p.Tyr244=)
c.735C= (p.Tyr245=)
c.114C= (p.Tyr38=)
c.729C= (p.Tyr243=)
8g.11749034C>GCA370312780GATA4c.732C>G (p.Tyr244Ter)
c.735C>G (p.Tyr245Ter)
c.114C>G (p.Tyr38Ter)
c.729C>G (p.Tyr243Ter)
8g.11749034C>TCA182795GATA4c.732C>T (p.Tyr244=)
c.735C>T (p.Tyr245=)
c.114C>T (p.Tyr38=)
c.729C>T (p.Tyr243=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11749035C>ACA370312781GATA4c.733C>A (p.His245Asn)
c.736C>A (p.His246Asn)
c.115C>A (p.His39Asn)
c.730C>A (p.His244Asn)
8g.11749035C>GCA370312782GATA4c.733C>G (p.His245Asp)
c.736C>G (p.His246Asp)
c.115C>G (p.His39Asp)
c.730C>G (p.His244Asp)
8g.11749035C>TCA370312783GATA4c.733C>T (p.His245Tyr)
c.736C>T (p.His246Tyr)
c.115C>T (p.His39Tyr)
c.730C>T (p.His244Tyr)
8g.11749036A=CA1764079769GATA4c.734A= (p.His245=)
c.737A= (p.His246=)
c.116A= (p.His39=)
c.731A= (p.His244=)
8g.11749036A>CCA370312784GATA4c.734A>C (p.His245Pro)
c.737A>C (p.His246Pro)
c.116A>C (p.His39Pro)
c.731A>C (p.His244Pro)
dbSNP gnomAD v3 gnomAD v4
8g.11749036A>GCA370312785GATA4c.734A>G (p.His245Arg)
c.737A>G (p.His246Arg)
c.116A>G (p.His39Arg)
c.731A>G (p.His244Arg)
8g.11749036A>TCA370312786GATA4c.734A>T (p.His245Leu)
c.737A>T (p.His246Leu)
c.116A>T (p.His39Leu)
c.731A>T (p.His244Leu)
8g.11749037C>ACA370312788GATA4c.735C>A (p.His245Gln)
c.738C>A (p.His246Gln)
c.117C>A (p.His39Gln)
c.732C>A (p.His244Gln)
8g.11749037C>GCA370312787GATA4c.735C>G (p.His245Gln)
c.738C>G (p.His246Gln)
c.117C>G (p.His39Gln)
c.732C>G (p.His244Gln)
gnomAD v4
8g.11749037C>TCA459310400GATA4c.735C>T (p.His245=)
c.738C>T (p.His246=)
c.117C>T (p.His39=)
c.732C>T (p.His244=)
gnomAD v4
8g.11749038A>CCA370312789GATA4c.736A>C (p.Lys246Gln)
c.739A>C (p.Lys247Gln)
c.118A>C (p.Lys40Gln)
c.733A>C (p.Lys245Gln)
8g.11749038A>GCA370312790GATA4c.736A>G (p.Lys246Glu)
c.739A>G (p.Lys247Glu)
c.118A>G (p.Lys40Glu)
c.733A>G (p.Lys245Glu)
8g.11749038A>TCA370312791GATA4c.736A>T (p.Lys246Ter)
c.739A>T (p.Lys247Ter)
c.118A>T (p.Lys40Ter)
c.733A>T (p.Lys245Ter)
8g.11749039A>CCA370312792GATA4c.737A>C (p.Lys246Thr)
c.740A>C (p.Lys247Thr)
c.119A>C (p.Lys40Thr)
c.734A>C (p.Lys245Thr)
8g.11749039A>GCA370312793GATA4c.737A>G (p.Lys246Arg)
c.740A>G (p.Lys247Arg)
c.119A>G (p.Lys40Arg)
c.734A>G (p.Lys245Arg)
gnomAD v4
8g.11749039A>TCA370312794GATA4c.737A>T (p.Lys246Met)
c.740A>T (p.Lys247Met)
c.119A>T (p.Lys40Met)
c.734A>T (p.Lys245Met)
8g.11749040G>ACA4630665GATA4c.738G>A (p.Lys246=)
c.741G>A (p.Lys247=)
c.120G>A (p.Lys40=)
c.735G>A (p.Lys245=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.11749040G>CCA370312796GATA4c.738G>C (p.Lys246Asn)
c.741G>C (p.Lys247Asn)
c.120G>C (p.Lys40Asn)
c.735G>C (p.Lys245Asn)
8g.11749040G=CA1764079772GATA4c.738G= (p.Lys246=)
c.741G= (p.Lys247=)
c.120G= (p.Lys40=)
c.735G= (p.Lys245=)
8g.11749040G>TCA370312795GATA4c.738G>T (p.Lys246Asn)
c.741G>T (p.Lys247Asn)
c.120G>T (p.Lys40Asn)
c.735G>T (p.Lys245Asn)
8g.11749041A>CCA370312797GATA4c.739A>C (p.Met247Leu)
c.742A>C (p.Met248Leu)
c.121A>C (p.Met41Leu)
c.736A>C (p.Met246Leu)
8g.11749041A>GCA370312798GATA4c.739A>G (p.Met247Val)
c.742A>G (p.Met248Val)
c.121A>G (p.Met41Val)
c.736A>G (p.Met246Val)
ClinVar dbSNP gnomAD v4
8g.11749041A>TCA370312799GATA4c.739A>T (p.Met247Leu)
c.742A>T (p.Met248Leu)
c.121A>T (p.Met41Leu)
c.736A>T (p.Met246Leu)
8g.11749042T>ACA370312800GATA4c.740T>A (p.Met247Lys)
c.743T>A (p.Met248Lys)
c.122T>A (p.Met41Lys)
c.737T>A (p.Met246Lys)
8g.11749042T>CCA370312801GATA4c.740T>C (p.Met247Thr)
c.743T>C (p.Met248Thr)
c.122T>C (p.Met41Thr)
c.737T>C (p.Met246Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11749042T>GCA370312802GATA4c.740T>G (p.Met247Arg)
c.743T>G (p.Met248Arg)
c.122T>G (p.Met41Arg)
c.737T>G (p.Met246Arg)
8g.11749042T=CA1764079775GATA4c.740T= (p.Met247=)
c.743T= (p.Met248=)
c.122T= (p.Met41=)
c.737T= (p.Met246=)
8g.11749043G>ACA370312803GATA4c.741G>A (p.Met247Ile)
c.744G>A (p.Met248Ile)
c.123G>A (p.Met41Ile)
c.738G>A (p.Met246Ile)
8g.11749043G>CCA370312805GATA4c.741G>C (p.Met247Ile)
c.744G>C (p.Met248Ile)
c.123G>C (p.Met41Ile)
c.738G>C (p.Met246Ile)
8g.11749043G>TCA370312804GATA4c.741G>T (p.Met247Ile)
c.744G>T (p.Met248Ile)
c.123G>T (p.Met41Ile)
c.738G>T (p.Met246Ile)
8g.11749044A>CCA370312806GATA4c.742A>C (p.Asn248His)
c.745A>C (p.Asn249His)
c.124A>C (p.Asn42His)
c.739A>C (p.Asn247His)
8g.11749044A>GCA370312807GATA4c.742A>G (p.Asn248Asp)
c.745A>G (p.Asn249Asp)
c.124A>G (p.Asn42Asp)
c.739A>G (p.Asn247Asp)
8g.11749044A>TCA370312808GATA4c.742A>T (p.Asn248Tyr)
c.745A>T (p.Asn249Tyr)
c.124A>T (p.Asn42Tyr)
c.739A>T (p.Asn247Tyr)
8g.11749045A=CA1764079778GATA4c.743A= (p.Asn248=)
c.746A= (p.Asn249=)
c.125A= (p.Asn42=)
c.740A= (p.Asn247=)
8g.11749045A>CCA370312809GATA4c.743A>C (p.Asn248Thr)
c.746A>C (p.Asn249Thr)
c.125A>C (p.Asn42Thr)
c.740A>C (p.Asn247Thr)
8g.11749045A>GCA4630666GATA4c.743A>G (p.Asn248Ser)
c.746A>G (p.Asn249Ser)
c.125A>G (p.Asn42Ser)
c.740A>G (p.Asn247Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.11749045A>TCA370312810GATA4c.743A>T (p.Asn248Ile)
c.746A>T (p.Asn249Ile)
c.125A>T (p.Asn42Ile)
c.740A>T (p.Asn247Ile)
8g.11749046C>ACA172113195GATA4c.744C>A (p.Asn248Lys)
c.747C>A (p.Asn249Lys)
c.126C>A (p.Asn42Lys)
c.741C>A (p.Asn247Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11749046C=CA1764079779GATA4c.744C= (p.Asn248=)
c.747C= (p.Asn249=)
c.126C= (p.Asn42=)
c.741C= (p.Asn247=)
8g.11749046C>GCA370312811GATA4c.744C>G (p.Asn248Lys)
c.747C>G (p.Asn249Lys)
c.126C>G (p.Asn42Lys)
c.741C>G (p.Asn247Lys)
gnomAD v4
8g.11749046C>TCA4630667GATA4c.744C>T (p.Asn248=)
c.747C>T (p.Asn249=)
c.126C>T (p.Asn42=)
c.741C>T (p.Asn247=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11749047G>ACA370312812GATA4c.745G>A (p.Gly249Ser)
c.748G>A (p.Gly250Ser)
c.127G>A (p.Gly43Ser)
c.742G>A (p.Gly248Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11749047G>CCA370312813GATA4c.745G>C (p.Gly249Arg)
c.748G>C (p.Gly250Arg)
c.127G>C (p.Gly43Arg)
c.742G>C (p.Gly248Arg)
8g.11749047G=CA1764079780GATA4c.745G= (p.Gly249=)
c.748G= (p.Gly250=)
c.127G= (p.Gly43=)
c.742G= (p.Gly248=)
8g.11749047G>TCA370312814GATA4c.745G>T (p.Gly249Cys)
c.748G>T (p.Gly250Cys)
c.127G>T (p.Gly43Cys)
c.742G>T (p.Gly248Cys)
ClinVar dbSNP
8g.11749048G>ACA370312816GATA4c.746G>A (p.Gly249Asp)
c.749G>A (p.Gly250Asp)
c.128G>A (p.Gly43Asp)
c.743G>A (p.Gly248Asp)
8g.11749048G>CCA370312817GATA4c.746G>C (p.Gly249Ala)
c.749G>C (p.Gly250Ala)
c.128G>C (p.Gly43Ala)
c.743G>C (p.Gly248Ala)
8g.11749048G>TCA370312815GATA4c.746G>T (p.Gly249Val)
c.749G>T (p.Gly250Val)
c.128G>T (p.Gly43Val)
c.743G>T (p.Gly248Val)
8g.11749049C>ACA459310426GATA4c.747C>A (p.Gly249=)
c.750C>A (p.Gly250=)
c.129C>A (p.Gly43=)
c.744C>A (p.Gly248=)
8g.11749049C=CA1764079782GATA4c.747C= (p.Gly249=)
c.750C= (p.Gly250=)
c.129C= (p.Gly43=)
c.744C= (p.Gly248=)
8g.11749049C>GCA459310427GATA4c.747C>G (p.Gly249=)
c.750C>G (p.Gly250=)
c.129C>G (p.Gly43=)
c.744C>G (p.Gly248=)
8g.11749049C>TCA4630668GATA4c.747C>T (p.Gly249=)
c.750C>T (p.Gly250=)
c.129C>T (p.Gly43=)
c.744C>T (p.Gly248=)
dbSNP ExAC gnomAD v4
8g.11749050A>CCA370312818GATA4c.748A>C (p.Ile250Leu)
c.751A>C (p.Ile251Leu)
c.130A>C (p.Ile44Leu)
c.745A>C (p.Ile249Leu)
8g.11749050A>GCA370312820GATA4c.748A>G (p.Ile250Val)
c.751A>G (p.Ile251Val)
c.130A>G (p.Ile44Val)
c.745A>G (p.Ile249Val)
8g.11749050A>TCA370312819GATA4c.748A>T (p.Ile250Phe)
c.751A>T (p.Ile251Phe)
c.130A>T (p.Ile44Phe)
c.745A>T (p.Ile249Phe)
8g.11749051T>ACA370312821GATA4c.749T>A (p.Ile250Asn)
c.752T>A (p.Ile251Asn)
c.131T>A (p.Ile44Asn)
c.746T>A (p.Ile249Asn)
dbSNP gnomAD v2
8g.11749051T>CCA370312822GATA4c.749T>C (p.Ile250Thr)
c.752T>C (p.Ile251Thr)
c.131T>C (p.Ile44Thr)
c.746T>C (p.Ile249Thr)
8g.11749051T>GCA370312823GATA4c.749T>G (p.Ile250Ser)
c.752T>G (p.Ile251Ser)
c.131T>G (p.Ile44Ser)
c.746T>G (p.Ile249Ser)
8g.11749051T=CA1764079784GATA4c.749T= (p.Ile250=)
c.752T= (p.Ile251=)
c.131T= (p.Ile44=)
c.746T= (p.Ile249=)
8g.11749052C>ACA459310434GATA4c.750C>A (p.Ile250=)
c.753C>A (p.Ile251=)
c.132C>A (p.Ile44=)
c.747C>A (p.Ile249=)
8g.11749052C=CA1764079785GATA4c.750C= (p.Ile250=)
c.753C= (p.Ile251=)
c.132C= (p.Ile44=)
c.747C= (p.Ile249=)
8g.11749052C>GCA370312824GATA4c.750C>G (p.Ile250Met)
c.753C>G (p.Ile251Met)
c.132C>G (p.Ile44Met)
c.747C>G (p.Ile249Met)
8g.11749052C>TCA459310437GATA4c.750C>T (p.Ile250=)
c.753C>T (p.Ile251=)
c.132C>T (p.Ile44=)
c.747C>T (p.Ile249=)
dbSNP gnomAD v2
8g.11749053A>CCA370312825GATA4c.751A>C (p.Asn251His)
c.754A>C (p.Asn252His)
c.133A>C (p.Asn45His)
c.748A>C (p.Asn250His)
8g.11749053A>GCA370312826GATA4c.751A>G (p.Asn251Asp)
c.754A>G (p.Asn252Asp)
c.133A>G (p.Asn45Asp)
c.748A>G (p.Asn250Asp)
8g.11749053A>TCA370312827GATA4c.751A>T (p.Asn251Tyr)
c.754A>T (p.Asn252Tyr)
c.133A>T (p.Asn45Tyr)
c.748A>T (p.Asn250Tyr)
8g.11749054A=CA1764079786GATA4c.752A= (p.Asn251=)
c.755A= (p.Asn252=)
c.134A= (p.Asn45=)
c.749A= (p.Asn250=)
8g.11749054A>CCA370312828GATA4c.752A>C (p.Asn251Thr)
c.755A>C (p.Asn252Thr)
c.134A>C (p.Asn45Thr)
c.749A>C (p.Asn250Thr)
dbSNP
8g.11749054A>GCA370312829GATA4c.752A>G (p.Asn251Ser)
c.755A>G (p.Asn252Ser)
c.134A>G (p.Asn45Ser)
c.749A>G (p.Asn250Ser)
8g.11749054A>TCA370312830GATA4c.752A>T (p.Asn251Ile)
c.755A>T (p.Asn252Ile)
c.134A>T (p.Asn45Ile)
c.749A>T (p.Asn250Ile)
8g.11749055C>ACA370312831GATA4c.753C>A (p.Asn251Lys)
c.756C>A (p.Asn252Lys)
c.135C>A (p.Asn45Lys)
c.750C>A (p.Asn250Lys)
8g.11749055C=CA1764079787GATA4c.753C= (p.Asn251=)
c.756C= (p.Asn252=)
c.135C= (p.Asn45=)
c.750C= (p.Asn250=)
8g.11749055C>GCA4630669GATA4c.753C>G (p.Asn251Lys)
c.756C>G (p.Asn252Lys)
c.135C>G (p.Asn45Lys)
c.750C>G (p.Asn250Lys)
dbSNP ExAC gnomAD v4
8g.11749055C>TCA459310445GATA4c.753C>T (p.Asn251=)
c.756C>T (p.Asn252=)
c.135C>T (p.Asn45=)
c.750C>T (p.Asn250=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11749056C>ACA459310447GATA4c.754C>A (p.Arg252=)
c.757C>A (p.Arg253=)
c.136C>A (p.Arg46=)
c.751C>A (p.Arg251=)
dbSNP
8g.11749056C=CA1764079789GATA4c.754C= (p.Arg252=)
c.757C= (p.Arg253=)
c.136C= (p.Arg46=)
c.751C= (p.Arg251=)
8g.11749056C>GCA370312832GATA4c.754C>G (p.Arg252Gly)
c.757C>G (p.Arg253Gly)
c.136C>G (p.Arg46Gly)
c.751C>G (p.Arg251Gly)
8g.11749056C>TCA370312833GATA4c.754C>T (p.Arg252Trp)
c.757C>T (p.Arg253Trp)
c.136C>T (p.Arg46Trp)
c.751C>T (p.Arg251Trp)
dbSNP gnomAD v4
8g.11749057G>ACA370312834GATA4c.755G>A (p.Arg252Gln)
c.758G>A (p.Arg253Gln)
c.137G>A (p.Arg46Gln)
c.752G>A (p.Arg251Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11749057G>CCA370312835GATA4c.755G>C (p.Arg252Pro)
c.758G>C (p.Arg253Pro)
c.137G>C (p.Arg46Pro)
c.752G>C (p.Arg251Pro)
8g.11749057G=CA1764079791GATA4c.755G= (p.Arg252=)
c.758G= (p.Arg253=)
c.137G= (p.Arg46=)
c.752G= (p.Arg251=)
8g.11749057G>TCA370312836GATA4c.755G>T (p.Arg252Leu)
c.758G>T (p.Arg253Leu)
c.137G>T (p.Arg46Leu)
c.752G>T (p.Arg251Leu)
8g.11749057_11749058insTTATTATATCTTTATGCAAAAGGAAAAGTAATCTTACTAACTTTGAAAGGGAAAAAGAGAGAGCAAGGTTTGCGTCA580031681GATA4c.755_756insTTATTATATCTTTATGCAAAAGGAAAAGTAATCTTACTAACTTTGAAAGGGAAAAAGAGAGAGCAAGGTTTGCGT (p.Arg253TyrfsTer10)
c.758_759insTTATTATATCTTTATGCAAAAGGAAAAGTAATCTTACTAACTTTGAAAGGGAAAAAGAGAGAGCAAGGTTTGCGT (p.Arg254TyrfsTer10)
c.137_138insTTATTATATCTTTATGCAAAAGGAAAAGTAATCTTACTAACTTTGAAAGGGAAAAAGAGAGAGCAAGGTTTGCGT (p.Arg47TyrfsTer10)
c.752_753insTTATTATATCTTTATGCAAAAGGAAAAGTAATCTTACTAACTTTGAAAGGGAAAAAGAGAGAGCAAGGTTTGCGT (p.Arg252TyrfsTer10)
dbSNP gnomAD v2
8g.11749058G>ACA459310455GATA4c.756G>A (p.Arg252=)
c.759G>A (p.Arg253=)
c.138G>A (p.Arg46=)
c.753G>A (p.Arg251=)
8g.11749058G>CCA459310457GATA4c.756G>C (p.Arg252=)
c.759G>C (p.Arg253=)
c.138G>C (p.Arg46=)
c.753G>C (p.Arg251=)
8g.11749058G>TCA459310459GATA4c.756G>T (p.Arg252=)
c.759G>T (p.Arg253=)
c.138G>T (p.Arg46=)
c.753G>T (p.Arg251=)
8g.11749059C>ACA370312837GATA4c.757C>A (p.Pro253Thr)
c.760C>A (p.Pro254Thr)
c.139C>A (p.Pro47Thr)
c.754C>A (p.Pro252Thr)
8g.11749059C>GCA370312838GATA4c.757C>G (p.Pro253Ala)
c.760C>G (p.Pro254Ala)
c.139C>G (p.Pro47Ala)
c.754C>G (p.Pro252Ala)
8g.11749059C>TCA370312839GATA4c.757C>T (p.Pro253Ser)
c.760C>T (p.Pro254Ser)
c.139C>T (p.Pro47Ser)
c.754C>T (p.Pro252Ser)
8g.11749060C>ACA370312840GATA4c.758C>A (p.Pro253Gln)
c.761C>A (p.Pro254Gln)
c.140C>A (p.Pro47Gln)
c.755C>A (p.Pro252Gln)
8g.11749060C=CA1764079798GATA4c.758C= (p.Pro253=)
c.761C= (p.Pro254=)
c.140C= (p.Pro47=)
c.755C= (p.Pro252=)
8g.11749060C>GCA370312841GATA4c.758C>G (p.Pro253Arg)
c.761C>G (p.Pro254Arg)
c.140C>G (p.Pro47Arg)
c.755C>G (p.Pro252Arg)
8g.11749060C>TCA4630670GATA4c.758C>T (p.Pro253Leu)
c.761C>T (p.Pro254Leu)
c.140C>T (p.Pro47Leu)
c.755C>T (p.Pro252Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.11749061G>ACA4630671GATA4c.759G>A (p.Pro253=)
c.762G>A (p.Pro254=)
c.141G>A (p.Pro47=)
c.756G>A (p.Pro252=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11749061G>CCA459310469GATA4c.759G>C (p.Pro253=)
c.762G>C (p.Pro254=)
c.141G>C (p.Pro47=)
c.756G>C (p.Pro252=)
8g.11749061G=CA1764079802GATA4c.759G= (p.Pro253=)
c.762G= (p.Pro254=)
c.141G= (p.Pro47=)
c.756G= (p.Pro252=)
8g.11749061G>TCA459310471GATA4c.759G>T (p.Pro253=)
c.762G>T (p.Pro254=)
c.141G>T (p.Pro47=)
c.756G>T (p.Pro252=)
8g.11749062C>ACA370312842GATA4c.760C>A (p.Leu254Ile)
c.763C>A (p.Leu255Ile)
c.142C>A (p.Leu48Ile)
c.757C>A (p.Leu253Ile)
8g.11749062C>GCA370312843GATA4c.760C>G (p.Leu254Val)
c.763C>G (p.Leu255Val)
c.142C>G (p.Leu48Val)
c.757C>G (p.Leu253Val)
gnomAD v4
8g.11749062C>TCA370312844GATA4c.760C>T (p.Leu254Phe)
c.763C>T (p.Leu255Phe)
c.142C>T (p.Leu48Phe)
c.757C>T (p.Leu253Phe)
8g.11749063T>ACA370312845GATA4c.761T>A (p.Leu254His)
c.764T>A (p.Leu255His)
c.143T>A (p.Leu48His)
c.758T>A (p.Leu253His)
8g.11749063T>CCA370312847GATA4c.761T>C (p.Leu254Pro)
c.764T>C (p.Leu255Pro)
c.143T>C (p.Leu48Pro)
c.758T>C (p.Leu253Pro)
gnomAD v4
8g.11749063T>GCA370312846GATA4c.761T>G (p.Leu254Arg)
c.764T>G (p.Leu255Arg)
c.143T>G (p.Leu48Arg)
c.758T>G (p.Leu253Arg)
gnomAD v4
8g.11749064C>ACA459310478GATA4c.762C>A (p.Leu254=)
c.765C>A (p.Leu255=)
c.144C>A (p.Leu48=)
c.759C>A (p.Leu253=)
gnomAD v4
8g.11749064C=CA1764079806GATA4c.762C= (p.Leu254=)
c.765C= (p.Leu255=)
c.144C= (p.Leu48=)
c.759C= (p.Leu253=)
8g.11749064C>GCA459310479GATA4c.762C>G (p.Leu254=)
c.765C>G (p.Leu255=)
c.144C>G (p.Leu48=)
c.759C>G (p.Leu253=)
8g.11749064C>TCA459310481GATA4c.762C>T (p.Leu254=)
c.765C>T (p.Leu255=)
c.144C>T (p.Leu48=)
c.759C>T (p.Leu253=)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11749065A=CA1764079809GATA4c.763A= (p.Ile255=)
c.766A= (p.Ile256=)
c.145A= (p.Ile49=)
c.760A= (p.Ile254=)
8g.11749065A>CCA172113219GATA4c.763A>C (p.Ile255Leu)
c.766A>C (p.Ile256Leu)
c.145A>C (p.Ile49Leu)
c.760A>C (p.Ile254Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11749065A>GCA370312848GATA4c.763A>G (p.Ile255Val)
c.766A>G (p.Ile256Val)
c.145A>G (p.Ile49Val)
c.760A>G (p.Ile254Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11749065A>TCA370312849GATA4c.763A>T (p.Ile255Phe)
c.766A>T (p.Ile256Phe)
c.145A>T (p.Ile49Phe)
c.760A>T (p.Ile254Phe)
8g.11749066T>ACA370312850GATA4c.764T>A (p.Ile255Asn)
c.767T>A (p.Ile256Asn)
c.146T>A (p.Ile49Asn)
c.761T>A (p.Ile254Asn)
8g.11749066T>CCA370312851GATA4c.764T>C (p.Ile255Thr)
c.767T>C (p.Ile256Thr)
c.146T>C (p.Ile49Thr)
c.761T>C (p.Ile254Thr)
8g.11749066T>GCA370312852GATA4c.764T>G (p.Ile255Ser)
c.767T>G (p.Ile256Ser)
c.146T>G (p.Ile49Ser)
c.761T>G (p.Ile254Ser)

Number of alleles fetched