Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.11748969A= | CA1764079669 | GATA4 | c.667A= (p.Met223=) c.670A= (p.Met224=) c.49A= (p.Met17=) c.664A= (p.Met222=) | |
8 | g.11748969A>C | CA172113118 | GATA4 | c.667A>C (p.Met223Leu) c.670A>C (p.Met224Leu) c.49A>C (p.Met17Leu) c.664A>C (p.Met222Leu) | dbSNP |
8 | g.11748969A>G | CA370312635 | GATA4 | c.667A>G (p.Met223Val) c.670A>G (p.Met224Val) c.49A>G (p.Met17Val) c.664A>G (p.Met222Val) | |
8 | g.11748969A>T | CA370312636 | GATA4 | c.667A>T (p.Met223Leu) c.670A>T (p.Met224Leu) c.49A>T (p.Met17Leu) c.664A>T (p.Met222Leu) | |
8 | g.11748969_11748970insGGGC | CA2779065967 | GATA4 | c.667_668insGGGC (p.Met223ArgfsTer?) c.670_671insGGGC (p.Met224ArgfsTer?) c.49_50insGGGC (p.Met17ArgfsTer?) c.664_665insGGGC (p.Met222ArgfsTer?) | |
8 | g.11748970T>A | CA370312637 | GATA4 | c.668T>A (p.Met223Lys) c.671T>A (p.Met224Lys) c.50T>A (p.Met17Lys) c.665T>A (p.Met222Lys) | |
8 | g.11748970T>C | CA370312638 | GATA4 | c.668T>C (p.Met223Thr) c.671T>C (p.Met224Thr) c.50T>C (p.Met17Thr) c.665T>C (p.Met222Thr) | |
8 | g.11748970T>G | CA370312639 | GATA4 | c.668T>G (p.Met223Arg) c.671T>G (p.Met224Arg) c.50T>G (p.Met17Arg) c.665T>G (p.Met222Arg) | |
8 | g.11748971G>A | CA370312641 | GATA4 | c.669G>A (p.Met223Ile) c.672G>A (p.Met224Ile) c.51G>A (p.Met17Ile) c.666G>A (p.Met222Ile) | |
8 | g.11748971G>C | CA370312642 | GATA4 | c.669G>C (p.Met223Ile) c.672G>C (p.Met224Ile) c.51G>C (p.Met17Ile) c.666G>C (p.Met222Ile) | |
8 | g.11748971G>T | CA370312640 | GATA4 | c.669G>T (p.Met223Ile) c.672G>T (p.Met224Ile) c.51G>T (p.Met17Ile) c.666G>T (p.Met222Ile) | |
8 | g.11748971_11748972insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT | CA2779065969 | GATA4 | c.669_670insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met223_Ser224insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe) c.672_673insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met224_Ser225insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe) c.51_52insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met17_Ser18insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe) c.666_667insGAGGCTCTGAATGTGATACCTGGACTGAAATCCAGGTGTCCCGCCTCCCAGCCCAGGACGTGGGTGATCACTGCAACTTTT (p.Met222_Ser223insGluAlaLeuAsnValIleProGlyLeuLysSerArgCysProAlaSerGlnProArgThrTrpValIleThrAlaThrPhe) | |
8 | g.11748972T>A | CA370312645 | GATA4 | c.670T>A (p.Ser224Thr) c.673T>A (p.Ser225Thr) c.52T>A (p.Ser18Thr) c.667T>A (p.Ser223Thr) | |
8 | g.11748972T>C | CA370312643 | GATA4 | c.670T>C (p.Ser224Pro) c.673T>C (p.Ser225Pro) c.52T>C (p.Ser18Pro) c.667T>C (p.Ser223Pro) | |
8 | g.11748972T>G | CA370312644 | GATA4 | c.670T>G (p.Ser224Ala) c.673T>G (p.Ser225Ala) c.52T>G (p.Ser18Ala) c.667T>G (p.Ser223Ala) | |
8 | g.11748973C>A | CA370312646 | GATA4 | c.671C>A (p.Ser224Tyr) c.674C>A (p.Ser225Tyr) c.53C>A (p.Ser18Tyr) c.668C>A (p.Ser223Tyr) | |
8 | g.11748973C>G | CA370312647 | GATA4 | c.671C>G (p.Ser224Cys) c.674C>G (p.Ser225Cys) c.53C>G (p.Ser18Cys) c.668C>G (p.Ser223Cys) | |
8 | g.11748973C>T | CA370312648 | GATA4 | c.671C>T (p.Ser224Phe) c.674C>T (p.Ser225Phe) c.53C>T (p.Ser18Phe) c.668C>T (p.Ser223Phe) | |
8 | g.11748974C>A | CA459310207 | GATA4 | c.672C>A (p.Ser224=) c.675C>A (p.Ser225=) c.54C>A (p.Ser18=) c.669C>A (p.Ser223=) | |
8 | g.11748974C>G | CA459310205 | GATA4 | c.672C>G (p.Ser224=) c.675C>G (p.Ser225=) c.54C>G (p.Ser18=) c.669C>G (p.Ser223=) | |
8 | g.11748974C>T | CA459310203 | GATA4 | c.672C>T (p.Ser224=) c.675C>T (p.Ser225=) c.54C>T (p.Ser18=) c.669C>T (p.Ser223=) | |
8 | g.11748975A= | CA1764079671 | GATA4 | c.673A= (p.Thr225=) c.676A= (p.Thr226=) c.55A= (p.Thr19=) c.670A= (p.Thr224=) | |
8 | g.11748975A>C | CA370312649 | GATA4 | c.673A>C (p.Thr225Pro) c.676A>C (p.Thr226Pro) c.55A>C (p.Thr19Pro) c.670A>C (p.Thr224Pro) | dbSNP |
8 | g.11748975A>G | CA370312650 | GATA4 | c.673A>G (p.Thr225Ala) c.676A>G (p.Thr226Ala) c.55A>G (p.Thr19Ala) c.670A>G (p.Thr224Ala) | |
8 | g.11748975A>T | CA370312651 | GATA4 | c.673A>T (p.Thr225Ser) c.676A>T (p.Thr226Ser) c.55A>T (p.Thr19Ser) c.670A>T (p.Thr224Ser) | |
8 | g.11748976C>A | CA370312652 | GATA4 | c.674C>A (p.Thr225Asn) c.677C>A (p.Thr226Asn) c.56C>A (p.Thr19Asn) c.671C>A (p.Thr224Asn) | |
8 | g.11748976C>G | CA370312653 | GATA4 | c.674C>G (p.Thr225Ser) c.677C>G (p.Thr226Ser) c.56C>G (p.Thr19Ser) c.671C>G (p.Thr224Ser) | |
8 | g.11748976C>T | CA370312654 | GATA4 | c.674C>T (p.Thr225Ile) c.677C>T (p.Thr226Ile) c.56C>T (p.Thr19Ile) c.671C>T (p.Thr224Ile) | gnomAD v4 |
8 | g.11748979del | CA2695208946 | GATA4 | c.677del (p.Pro226ArgfsTer22) c.680del (p.Pro227ArgfsTer22) c.59del (p.Pro20ArgfsTer22) c.674del (p.Pro225ArgfsTer22) | |
8 | g.11748977C>A | CA459310214 | GATA4 | c.675C>A (p.Thr225=) c.678C>A (p.Thr226=) c.57C>A (p.Thr19=) c.672C>A (p.Thr224=) | ClinVar |
8 | g.11748977C= | CA1764079675 | GATA4 | c.675C= (p.Thr225=) c.678C= (p.Thr226=) c.57C= (p.Thr19=) c.672C= (p.Thr224=) | |
8 | g.11748977C>G | CA459310217 | GATA4 | c.675C>G (p.Thr225=) c.678C>G (p.Thr226=) c.57C>G (p.Thr19=) c.672C>G (p.Thr224=) | |
8 | g.11748977C>T | CA4630660 | GATA4 | c.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 |
8 | g.11748978C>A | CA370312656 | GATA4 | c.676C>A (p.Pro226Thr) c.679C>A (p.Pro227Thr) c.58C>A (p.Pro20Thr) c.673C>A (p.Pro225Thr) | |
8 | g.11748978C= | CA1764079680 | GATA4 | c.676C= (p.Pro226=) c.679C= (p.Pro227=) c.58C= (p.Pro20=) c.673C= (p.Pro225=) | |
8 | g.11748978C>G | CA172113126 | GATA4 | c.676C>G (p.Pro226Ala) c.679C>G (p.Pro227Ala) c.58C>G (p.Pro20Ala) c.673C>G (p.Pro225Ala) | dbSNP gnomAD v4 |
8 | g.11748978C>T | CA370312655 | GATA4 | c.676C>T (p.Pro226Ser) c.679C>T (p.Pro227Ser) c.58C>T (p.Pro20Ser) c.673C>T (p.Pro225Ser) | |
8 | g.11748979C>A | CA370312657 | GATA4 | c.677C>A (p.Pro226Gln) c.680C>A (p.Pro227Gln) c.59C>A (p.Pro20Gln) c.674C>A (p.Pro225Gln) | |
8 | g.11748979C>G | CA370312658 | GATA4 | c.677C>G (p.Pro226Arg) c.680C>G (p.Pro227Arg) c.59C>G (p.Pro20Arg) c.674C>G (p.Pro225Arg) | |
8 | g.11748979C>T | CA370312659 | GATA4 | c.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 |
8 | g.11748980G>A | CA459310224 | GATA4 | c.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 |
8 | g.11748980G>C | CA459310226 | GATA4 | c.678G>C (p.Pro226=) c.681G>C (p.Pro227=) c.60G>C (p.Pro20=) c.675G>C (p.Pro225=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11748980G= | CA1764079683 | GATA4 | c.678G= (p.Pro226=) c.681G= (p.Pro227=) c.60G= (p.Pro20=) c.675G= (p.Pro225=) | |
8 | g.11748980G>T | CA459310228 | GATA4 | c.678G>T (p.Pro226=) c.681G>T (p.Pro227=) c.60G>T (p.Pro20=) c.675G>T (p.Pro225=) | |
8 | g.11748981C>A | CA370312660 | GATA4 | c.679C>A (p.Leu227Ile) c.682C>A (p.Leu228Ile) c.61C>A (p.Leu21Ile) c.676C>A (p.Leu226Ile) | |
8 | g.11748981C>G | CA370312661 | GATA4 | c.679C>G (p.Leu227Val) c.682C>G (p.Leu228Val) c.61C>G (p.Leu21Val) c.676C>G (p.Leu226Val) | |
8 | g.11748981C>T | CA370312662 | GATA4 | c.679C>T (p.Leu227Phe) c.682C>T (p.Leu228Phe) c.61C>T (p.Leu21Phe) c.676C>T (p.Leu226Phe) | |
8 | g.11748982T>A | CA370312663 | GATA4 | c.680T>A (p.Leu227His) c.683T>A (p.Leu228His) c.62T>A (p.Leu21His) c.677T>A (p.Leu226His) | |
8 | g.11748982T>C | CA370312664 | GATA4 | c.680T>C (p.Leu227Pro) c.683T>C (p.Leu228Pro) c.62T>C (p.Leu21Pro) c.677T>C (p.Leu226Pro) | ClinVar dbSNP |
8 | g.11748982T>G | CA370312665 | GATA4 | c.680T>G (p.Leu227Arg) c.683T>G (p.Leu228Arg) c.62T>G (p.Leu21Arg) c.677T>G (p.Leu226Arg) | |
8 | g.11748983C>A | CA459310235 | GATA4 | c.681C>A (p.Leu227=) c.684C>A (p.Leu228=) c.63C>A (p.Leu21=) c.678C>A (p.Leu226=) | |
8 | g.11748983C= | CA1764079687 | GATA4 | c.681C= (p.Leu227=) c.684C= (p.Leu228=) c.63C= (p.Leu21=) c.678C= (p.Leu226=) | |
8 | g.11748983C>G | CA459310236 | GATA4 | c.681C>G (p.Leu227=) c.684C>G (p.Leu228=) c.63C>G (p.Leu21=) c.678C>G (p.Leu226=) | ClinVar dbSNP gnomAD v4 |
8 | g.11748983C>T | CA459310239 | GATA4 | c.681C>T (p.Leu227=) c.684C>T (p.Leu228=) c.63C>T (p.Leu21=) c.678C>T (p.Leu226=) | |
8 | g.11748984T>A | CA347951 | GATA4 | c.682T>A (p.Trp228Arg) c.685T>A (p.Trp229Arg) c.64T>A (p.Trp22Arg) c.679T>A (p.Trp227Arg) | ClinVar dbSNP |
8 | g.11748984T>C | CA370312666 | GATA4 | c.682T>C (p.Trp228Arg) c.685T>C (p.Trp229Arg) c.64T>C (p.Trp22Arg) c.679T>C (p.Trp227Arg) | |
8 | g.11748984T>G | CA370312667 | GATA4 | c.682T>G (p.Trp228Gly) c.685T>G (p.Trp229Gly) c.64T>G (p.Trp22Gly) c.679T>G (p.Trp227Gly) | |
8 | g.11748984T= | CA1764079690 | GATA4 | c.682T= (p.Trp228=) c.685T= (p.Trp229=) c.64T= (p.Trp22=) c.679T= (p.Trp227=) | |
8 | g.11748985G>A | CA370312669 | GATA4 | c.683G>A (p.Trp228Ter) c.686G>A (p.Trp229Ter) c.65G>A (p.Trp22Ter) c.680G>A (p.Trp227Ter) | |
8 | g.11748985G>C | CA370312670 | GATA4 | c.683G>C (p.Trp228Ser) c.686G>C (p.Trp229Ser) c.65G>C (p.Trp22Ser) c.680G>C (p.Trp227Ser) | |
8 | g.11748985G>T | CA370312668 | GATA4 | c.683G>T (p.Trp228Leu) c.686G>T (p.Trp229Leu) c.65G>T (p.Trp22Leu) c.680G>T (p.Trp227Leu) | |
8 | g.11748986G>A | CA370312671 | GATA4 | c.684G>A (p.Trp228Ter) c.687G>A (p.Trp229Ter) c.66G>A (p.Trp22Ter) c.681G>A (p.Trp227Ter) | |
8 | g.11748986G>C | CA370312672 | GATA4 | c.684G>C (p.Trp228Cys) c.687G>C (p.Trp229Cys) c.66G>C (p.Trp22Cys) c.681G>C (p.Trp227Cys) | ClinVar dbSNP |
8 | g.11748986G= | CA1764079698 | GATA4 | c.684G= (p.Trp228=) c.687G= (p.Trp229=) c.66G= (p.Trp22=) c.681G= (p.Trp227=) | |
8 | g.11748986G>T | CA370312673 | GATA4 | c.684G>T (p.Trp228Cys) c.687G>T (p.Trp229Cys) c.66G>T (p.Trp22Cys) c.681G>T (p.Trp227Cys) | |
8 | g.11748987A>C | CA459310248 | GATA4 | c.685A>C (p.Arg229=) c.688A>C (p.Arg230=) c.67A>C (p.Arg23=) c.682A>C (p.Arg228=) | gnomAD v4 |
8 | g.11748987A>G | CA370312674 | GATA4 | c.685A>G (p.Arg229Gly) c.688A>G (p.Arg230Gly) c.67A>G (p.Arg23Gly) c.682A>G (p.Arg228Gly) | |
8 | g.11748987A>T | CA370312675 | GATA4 | c.685A>T (p.Arg229Trp) c.688A>T (p.Arg230Trp) c.67A>T (p.Arg23Trp) c.682A>T (p.Arg228Trp) | |
8 | g.11748988G>A | CA370312676 | GATA4 | c.686G>A (p.Arg229Lys) c.689G>A (p.Arg230Lys) c.68G>A (p.Arg23Lys) c.683G>A (p.Arg228Lys) | |
8 | g.11748988G>C | CA370312677 | GATA4 | c.686G>C (p.Arg229Thr) c.689G>C (p.Arg230Thr) c.68G>C (p.Arg23Thr) c.683G>C (p.Arg228Thr) | |
8 | g.11748988G>T | CA370312678 | GATA4 | c.686G>T (p.Arg229Met) c.689G>T (p.Arg230Met) c.68G>T (p.Arg23Met) c.683G>T (p.Arg228Met) | |
8 | g.11748989G>A | CA459310254 | GATA4 | c.687G>A (p.Arg229=) c.690G>A (p.Arg230=) c.69G>A (p.Arg23=) c.684G>A (p.Arg228=) | |
8 | g.11748989G>C | CA370312679 | GATA4 | c.687G>C (p.Arg229Ser) c.690G>C (p.Arg230Ser) c.69G>C (p.Arg23Ser) c.684G>C (p.Arg228Ser) | |
8 | g.11748989G>T | CA370312680 | GATA4 | c.687G>T (p.Arg229Ser) c.690G>T (p.Arg230Ser) c.69G>T (p.Arg23Ser) c.684G>T (p.Arg228Ser) | |
8 | g.11748990C>A | CA459310258 | GATA4 | c.688C>A (p.Arg230=) c.691C>A (p.Arg231=) c.70C>A (p.Arg24=) c.685C>A (p.Arg229=) | |
8 | g.11748990C>G | CA370312681 | GATA4 | c.688C>G (p.Arg230Gly) c.691C>G (p.Arg231Gly) c.70C>G (p.Arg24Gly) c.685C>G (p.Arg229Gly) | |
8 | g.11748990C>T | CA370312682 | GATA4 | c.688C>T (p.Arg230Ter) c.691C>T (p.Arg231Ter) c.70C>T (p.Arg24Ter) c.685C>T (p.Arg229Ter) | ClinVar dbSNP COSMIC |
8 | g.11748991G>A | CA370312684 | GATA4 | c.689G>A (p.Arg230Gln) c.692G>A (p.Arg231Gln) c.71G>A (p.Arg24Gln) c.686G>A (p.Arg229Gln) | ClinVar COSMIC |
8 | g.11748991G>C | CA370312685 | GATA4 | c.689G>C (p.Arg230Pro) c.692G>C (p.Arg231Pro) c.71G>C (p.Arg24Pro) c.686G>C (p.Arg229Pro) | |
8 | g.11748991G>T | CA370312683 | GATA4 | c.689G>T (p.Arg230Leu) c.692G>T (p.Arg231Leu) c.71G>T (p.Arg24Leu) c.686G>T (p.Arg229Leu) | |
8 | g.11748992A= | CA1764079703 | GATA4 | c.690A= (p.Arg230=) c.693A= (p.Arg231=) c.72A= (p.Arg24=) c.687A= (p.Arg229=) | |
8 | g.11748992A>C | CA459310264 | GATA4 | c.690A>C (p.Arg230=) c.693A>C (p.Arg231=) c.72A>C (p.Arg24=) c.687A>C (p.Arg229=) | |
8 | g.11748992A>G | CA459310265 | GATA4 | c.690A>G (p.Arg230=) c.693A>G (p.Arg231=) c.72A>G (p.Arg24=) c.687A>G (p.Arg229=) | |
8 | g.11748992A>T | CA459310267 | GATA4 | c.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 |
8 | g.11748993G>A | CA370312686 | GATA4 | c.691G>A (p.Asp231Asn) c.694G>A (p.Asp232Asn) c.73G>A (p.Asp25Asn) c.688G>A (p.Asp230Asn) | |
8 | g.11748993G>C | CA370312687 | GATA4 | c.691G>C (p.Asp231His) c.694G>C (p.Asp232His) c.73G>C (p.Asp25His) c.688G>C (p.Asp230His) | |
8 | g.11748993G>T | CA370312688 | GATA4 | c.691G>T (p.Asp231Tyr) c.694G>T (p.Asp232Tyr) c.73G>T (p.Asp25Tyr) c.688G>T (p.Asp230Tyr) | COSMIC |
8 | g.11748994A>C | CA370312689 | GATA4 | c.692A>C (p.Asp231Ala) c.695A>C (p.Asp232Ala) c.74A>C (p.Asp25Ala) c.689A>C (p.Asp230Ala) | |
8 | g.11748994A>G | CA370312690 | GATA4 | c.692A>G (p.Asp231Gly) c.695A>G (p.Asp232Gly) c.74A>G (p.Asp25Gly) c.689A>G (p.Asp230Gly) | |
8 | g.11748994A>T | CA370312691 | GATA4 | c.692A>T (p.Asp231Val) c.695A>T (p.Asp232Val) c.74A>T (p.Asp25Val) c.689A>T (p.Asp230Val) | |
8 | g.11748995T>A | CA370312693 | GATA4 | c.693T>A (p.Asp231Glu) c.696T>A (p.Asp232Glu) c.75T>A (p.Asp25Glu) c.690T>A (p.Asp230Glu) | |
8 | g.11748995T>C | CA459310273 | GATA4 | c.693T>C (p.Asp231=) c.696T>C (p.Asp232=) c.75T>C (p.Asp25=) c.690T>C (p.Asp230=) | |
8 | g.11748995T>G | CA370312692 | GATA4 | c.693T>G (p.Asp231Glu) c.696T>G (p.Asp232Glu) c.75T>G (p.Asp25Glu) c.690T>G (p.Asp230Glu) | |
8 | g.11748996G>A | CA370312694 | GATA4 | c.694G>A (p.Gly232Arg) c.697G>A (p.Gly233Arg) c.76G>A (p.Gly26Arg) c.691G>A (p.Gly231Arg) | |
8 | g.11748996G>C | CA370312695 | GATA4 | c.694G>C (p.Gly232Arg) c.697G>C (p.Gly233Arg) c.76G>C (p.Gly26Arg) c.691G>C (p.Gly231Arg) | |
8 | g.11748996G>T | CA370312696 | GATA4 | c.694G>T (p.Gly232Trp) c.697G>T (p.Gly233Trp) c.76G>T (p.Gly26Trp) c.691G>T (p.Gly231Trp) | |
8 | g.11748997G>A | CA370312697 | GATA4 | c.695G>A (p.Gly232Glu) c.698G>A (p.Gly233Glu) c.77G>A (p.Gly26Glu) c.692G>A (p.Gly231Glu) | |
8 | g.11748997G>C | CA370312698 | GATA4 | c.695G>C (p.Gly232Ala) c.698G>C (p.Gly233Ala) c.77G>C (p.Gly26Ala) c.692G>C (p.Gly231Ala) | |
8 | g.11748997G>T | CA370312699 | GATA4 | c.695G>T (p.Gly232Val) c.698G>T (p.Gly233Val) c.77G>T (p.Gly26Val) c.692G>T (p.Gly231Val) | |
8 | g.11748998G>A | CA459310282 | GATA4 | c.696G>A (p.Gly232=) c.699G>A (p.Gly233=) c.78G>A (p.Gly26=) c.693G>A (p.Gly231=) | |
8 | g.11748998G>C | CA459310281 | GATA4 | c.696G>C (p.Gly232=) c.699G>C (p.Gly233=) c.78G>C (p.Gly26=) c.693G>C (p.Gly231=) | ClinVar dbSNP gnomAD v4 |
8 | g.11748998G>T | CA459310279 | GATA4 | c.696G>T (p.Gly232=) c.699G>T (p.Gly233=) c.78G>T (p.Gly26=) c.693G>T (p.Gly231=) | |
8 | g.11748999A= | CA1764079706 | GATA4 | c.697A= (p.Thr233=) c.700A= (p.Thr234=) c.79A= (p.Thr27=) c.694A= (p.Thr232=) | |
8 | g.11748999A>C | CA370312702 | GATA4 | c.697A>C (p.Thr233Pro) c.700A>C (p.Thr234Pro) c.79A>C (p.Thr27Pro) c.694A>C (p.Thr232Pro) | |
8 | g.11748999A>G | CA370312701 | GATA4 | c.697A>G (p.Thr233Ala) c.700A>G (p.Thr234Ala) c.79A>G (p.Thr27Ala) c.694A>G (p.Thr232Ala) | |
8 | g.11748999A>T | CA370312700 | GATA4 | c.697A>T (p.Thr233Ser) c.700A>T (p.Thr234Ser) c.79A>T (p.Thr27Ser) c.694A>T (p.Thr232Ser) | dbSNP |
8 | g.11749000C>A | CA370312703 | GATA4 | c.698C>A (p.Thr233Lys) c.701C>A (p.Thr234Lys) c.80C>A (p.Thr27Lys) c.695C>A (p.Thr232Lys) | |
8 | g.11749000C>G | CA370312705 | GATA4 | c.698C>G (p.Thr233Arg) c.701C>G (p.Thr234Arg) c.80C>G (p.Thr27Arg) c.695C>G (p.Thr232Arg) | |
8 | g.11749000C>T | CA370312704 | GATA4 | c.698C>T (p.Thr233Met) c.701C>T (p.Thr234Met) c.80C>T (p.Thr27Met) c.695C>T (p.Thr232Met) | ClinVar dbSNP gnomAD v4 COSMIC |
8 | g.11749001G>A | CA133995 | GATA4 | c.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 |
8 | g.11749001G>C | CA459310291 | GATA4 | c.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 |
8 | g.11749001G= | CA1764079709 | GATA4 | c.699G= (p.Thr233=) c.702G= (p.Thr234=) c.81G= (p.Thr27=) c.696G= (p.Thr232=) | |
8 | g.11749001G>T | CA459310293 | GATA4 | c.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 |
8 | g.11749002G>A | CA370312707 | GATA4 | c.700G>A (p.Gly234Ser) c.703G>A (p.Gly235Ser) c.82G>A (p.Gly28Ser) c.697G>A (p.Gly233Ser) | |
8 | g.11749002G>C | CA370312706 | GATA4 | c.700G>C (p.Gly234Arg) c.703G>C (p.Gly235Arg) c.82G>C (p.Gly28Arg) c.697G>C (p.Gly233Arg) | |
8 | g.11749002G>T | CA370312708 | GATA4 | c.700G>T (p.Gly234Cys) c.703G>T (p.Gly235Cys) c.82G>T (p.Gly28Cys) c.697G>T (p.Gly233Cys) | |
8 | g.11749003G>A | CA370312709 | GATA4 | c.701G>A (p.Gly234Asp) c.704G>A (p.Gly235Asp) c.83G>A (p.Gly28Asp) c.698G>A (p.Gly233Asp) | |
8 | g.11749003G>C | CA370312710 | GATA4 | c.701G>C (p.Gly234Ala) c.704G>C (p.Gly235Ala) c.83G>C (p.Gly28Ala) c.698G>C (p.Gly233Ala) | |
8 | g.11749003G>T | CA370312711 | GATA4 | c.701G>T (p.Gly234Val) c.704G>T (p.Gly235Val) c.83G>T (p.Gly28Val) c.698G>T (p.Gly233Val) | |
8 | g.11749004T>A | CA459310299 | GATA4 | c.702T>A (p.Gly234=) c.705T>A (p.Gly235=) c.84T>A (p.Gly28=) c.699T>A (p.Gly233=) | |
8 | g.11749004T>C | CA172113149 | GATA4 | c.702T>C (p.Gly234=) c.705T>C (p.Gly235=) c.84T>C (p.Gly28=) c.699T>C (p.Gly233=) | dbSNP gnomAD v4 |
8 | g.11749004T>G | CA459310300 | GATA4 | c.702T>G (p.Gly234=) c.705T>G (p.Gly235=) c.84T>G (p.Gly28=) c.699T>G (p.Gly233=) | |
8 | g.11749004T= | CA1764079713 | GATA4 | c.702T= (p.Gly234=) c.705T= (p.Gly235=) c.84T= (p.Gly28=) c.699T= (p.Gly233=) | |
8 | g.11749005C>A | CA370312712 | GATA4 | c.703C>A (p.His235Asn) c.706C>A (p.His236Asn) c.85C>A (p.His29Asn) c.700C>A (p.His234Asn) | |
8 | g.11749005C>G | CA370312713 | GATA4 | c.703C>G (p.His235Asp) c.706C>G (p.His236Asp) c.85C>G (p.His29Asp) c.700C>G (p.His234Asp) | |
8 | g.11749005C>T | CA370312714 | GATA4 | c.703C>T (p.His235Tyr) c.706C>T (p.His236Tyr) c.85C>T (p.His29Tyr) c.700C>T (p.His234Tyr) | |
8 | g.11749006A>C | CA370312715 | GATA4 | c.704A>C (p.His235Pro) c.707A>C (p.His236Pro) c.86A>C (p.His29Pro) c.701A>C (p.His234Pro) | |
8 | g.11749006A>G | CA370312716 | GATA4 | c.704A>G (p.His235Arg) c.707A>G (p.His236Arg) c.86A>G (p.His29Arg) c.701A>G (p.His234Arg) | |
8 | g.11749006A>T | CA370312717 | GATA4 | c.704A>T (p.His235Leu) c.707A>T (p.His236Leu) c.86A>T (p.His29Leu) c.701A>T (p.His234Leu) | |
8 | g.11749007C>A | CA370312718 | GATA4 | c.705C>A (p.His235Gln) c.708C>A (p.His236Gln) c.87C>A (p.His29Gln) c.702C>A (p.His234Gln) | |
8 | g.11749007C>G | CA370312719 | GATA4 | c.705C>G (p.His235Gln) c.708C>G (p.His236Gln) c.87C>G (p.His29Gln) c.702C>G (p.His234Gln) | |
8 | g.11749007C>T | CA459310308 | GATA4 | c.705C>T (p.His235=) c.708C>T (p.His236=) c.87C>T (p.His29=) c.702C>T (p.His234=) | gnomAD v4 |
8 | g.11749008T>A | CA370312722 | GATA4 | c.706T>A (p.Tyr236Asn) c.709T>A (p.Tyr237Asn) c.88T>A (p.Tyr30Asn) c.703T>A (p.Tyr235Asn) | |
8 | g.11749008T>C | CA370312720 | GATA4 | c.706T>C (p.Tyr236His) c.709T>C (p.Tyr237His) c.88T>C (p.Tyr30His) c.703T>C (p.Tyr235His) | |
8 | g.11749008T>G | CA370312721 | GATA4 | c.706T>G (p.Tyr236Asp) c.709T>G (p.Tyr237Asp) c.88T>G (p.Tyr30Asp) c.703T>G (p.Tyr235Asp) | |
8 | g.11749009A= | CA1764079718 | GATA4 | c.707A= (p.Tyr236=) c.710A= (p.Tyr237=) c.89A= (p.Tyr30=) c.704A= (p.Tyr235=) | |
8 | g.11749009A>C | CA370312723 | GATA4 | c.707A>C (p.Tyr236Ser) c.710A>C (p.Tyr237Ser) c.89A>C (p.Tyr30Ser) c.704A>C (p.Tyr235Ser) | |
8 | g.11749009A>G | CA370312724 | GATA4 | c.707A>G (p.Tyr236Cys) c.710A>G (p.Tyr237Cys) c.89A>G (p.Tyr30Cys) c.704A>G (p.Tyr235Cys) | dbSNP |
8 | g.11749009A>T | CA370312725 | GATA4 | c.707A>T (p.Tyr236Phe) c.710A>T (p.Tyr237Phe) c.89A>T (p.Tyr30Phe) c.704A>T (p.Tyr235Phe) | |
8 | g.11749010T>A | CA370312726 | GATA4 | c.708T>A (p.Tyr236Ter) c.711T>A (p.Tyr237Ter) c.90T>A (p.Tyr30Ter) c.705T>A (p.Tyr235Ter) | |
8 | g.11749010T>C | CA459310317 | GATA4 | c.708T>C (p.Tyr236=) c.711T>C (p.Tyr237=) c.90T>C (p.Tyr30=) c.705T>C (p.Tyr235=) | |
8 | g.11749010T>G | CA370312727 | GATA4 | c.708T>G (p.Tyr236Ter) c.711T>G (p.Tyr237Ter) c.90T>G (p.Tyr30Ter) c.705T>G (p.Tyr235Ter) | |
8 | g.11749011C>A | CA370312728 | GATA4 | c.709C>A (p.Leu237Met) c.712C>A (p.Leu238Met) c.91C>A (p.Leu31Met) c.706C>A (p.Leu236Met) | |
8 | g.11749011C>G | CA370312729 | GATA4 | c.709C>G (p.Leu237Val) c.712C>G (p.Leu238Val) c.91C>G (p.Leu31Val) c.706C>G (p.Leu236Val) | gnomAD v4 |
8 | g.11749011C>T | CA459310320 | GATA4 | c.709C>T (p.Leu237=) c.712C>T (p.Leu238=) c.91C>T (p.Leu31=) c.706C>T (p.Leu236=) | |
8 | g.11749012T>A | CA370312730 | GATA4 | c.710T>A (p.Leu237Gln) c.713T>A (p.Leu238Gln) c.92T>A (p.Leu31Gln) c.707T>A (p.Leu236Gln) | dbSNP |
8 | g.11749012T>C | CA370312731 | GATA4 | c.710T>C (p.Leu237Pro) c.713T>C (p.Leu238Pro) c.92T>C (p.Leu31Pro) c.707T>C (p.Leu236Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11749012T>G | CA370312732 | GATA4 | c.710T>G (p.Leu237Arg) c.713T>G (p.Leu238Arg) c.92T>G (p.Leu31Arg) c.707T>G (p.Leu236Arg) | |
8 | g.11749012T= | CA1764079722 | GATA4 | c.710T= (p.Leu237=) c.713T= (p.Leu238=) c.92T= (p.Leu31=) c.707T= (p.Leu236=) | |
8 | g.11749013G>A | CA459310325 | GATA4 | c.711G>A (p.Leu237=) c.714G>A (p.Leu238=) c.93G>A (p.Leu31=) c.708G>A (p.Leu236=) | gnomAD v4 |
8 | g.11749013G>C | CA459310327 | GATA4 | c.711G>C (p.Leu237=) c.714G>C (p.Leu238=) c.93G>C (p.Leu31=) c.708G>C (p.Leu236=) | |
8 | g.11749013G>T | CA459310329 | GATA4 | c.711G>T (p.Leu237=) c.714G>T (p.Leu238=) c.93G>T (p.Leu31=) c.708G>T (p.Leu236=) | |
8 | g.11749014T>A | CA370312735 | GATA4 | c.712T>A (p.Cys238Ser) c.715T>A (p.Cys239Ser) c.94T>A (p.Cys32Ser) c.709T>A (p.Cys237Ser) | |
8 | g.11749014T>C | CA370312734 | GATA4 | c.712T>C (p.Cys238Arg) c.715T>C (p.Cys239Arg) c.94T>C (p.Cys32Arg) c.709T>C (p.Cys237Arg) | |
8 | g.11749014T>G | CA370312733 | GATA4 | c.712T>G (p.Cys238Gly) c.715T>G (p.Cys239Gly) c.94T>G (p.Cys32Gly) c.709T>G (p.Cys237Gly) | |
8 | g.11749015G>A | CA370312736 | GATA4 | c.713G>A (p.Cys238Tyr) c.716G>A (p.Cys239Tyr) c.95G>A (p.Cys32Tyr) c.710G>A (p.Cys237Tyr) | |
8 | g.11749015G>C | CA370312737 | GATA4 | c.713G>C (p.Cys238Ser) c.716G>C (p.Cys239Ser) c.95G>C (p.Cys32Ser) c.710G>C (p.Cys237Ser) | |
8 | g.11749015G>T | CA370312738 | GATA4 | c.713G>T (p.Cys238Phe) c.716G>T (p.Cys239Phe) c.95G>T (p.Cys32Phe) c.710G>T (p.Cys237Phe) | ClinVar |
8 | g.11749016C>A | CA370312739 | GATA4 | c.714C>A (p.Cys238Ter) c.717C>A (p.Cys239Ter) c.96C>A (p.Cys32Ter) c.711C>A (p.Cys237Ter) | |
8 | g.11749016C>G | CA370312740 | GATA4 | c.714C>G (p.Cys238Trp) c.717C>G (p.Cys239Trp) c.96C>G (p.Cys32Trp) c.711C>G (p.Cys237Trp) | |
8 | g.11749016C>T | CA459310335 | GATA4 | c.714C>T (p.Cys238=) c.717C>T (p.Cys239=) c.96C>T (p.Cys32=) c.711C>T (p.Cys237=) | gnomAD v4 |
8 | g.11749017A>C | CA370312741 | GATA4 | c.715A>C (p.Asn239His) c.718A>C (p.Asn240His) c.97A>C (p.Asn33His) c.712A>C (p.Asn238His) | |
8 | g.11749017A>G | CA370312742 | GATA4 | c.715A>G (p.Asn239Asp) c.718A>G (p.Asn240Asp) c.97A>G (p.Asn33Asp) c.712A>G (p.Asn238Asp) | |
8 | g.11749017A>T | CA370312743 | GATA4 | c.715A>T (p.Asn239Tyr) c.718A>T (p.Asn240Tyr) c.97A>T (p.Asn33Tyr) c.712A>T (p.Asn238Tyr) | |
8 | g.11749018A>C | CA370312744 | GATA4 | c.716A>C (p.Asn239Thr) c.719A>C (p.Asn240Thr) c.98A>C (p.Asn33Thr) c.713A>C (p.Asn238Thr) | |
8 | g.11749018A>G | CA370312745 | GATA4 | c.716A>G (p.Asn239Ser) c.719A>G (p.Asn240Ser) c.98A>G (p.Asn33Ser) c.713A>G (p.Asn238Ser) | gnomAD v4 |
8 | g.11749018A>T | CA370312746 | GATA4 | c.716A>T (p.Asn239Ile) c.719A>T (p.Asn240Ile) c.98A>T (p.Asn33Ile) c.713A>T (p.Asn238Ile) | |
8 | g.11749019del | CA2695208947 | GATA4 | c.717del (p.Asn239LysfsTer9) c.720del (p.Asn240LysfsTer9) c.99del (p.Asn33LysfsTer9) c.714del (p.Asn238LysfsTer9) | |
8 | g.11749019C>A | CA370312748 | GATA4 | c.717C>A (p.Asn239Lys) c.720C>A (p.Asn240Lys) c.99C>A (p.Asn33Lys) c.714C>A (p.Asn238Lys) | |
8 | g.11749019C= | CA1764079727 | GATA4 | c.717C= (p.Asn239=) c.720C= (p.Asn240=) c.99C= (p.Asn33=) c.714C= (p.Asn238=) | |
8 | g.11749019C>G | CA370312747 | GATA4 | c.717C>G (p.Asn239Lys) c.720C>G (p.Asn240Lys) c.99C>G (p.Asn33Lys) c.714C>G (p.Asn238Lys) | |
8 | g.11749019C>T | CA4630661 | GATA4 | c.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 |
8 | g.11749020G>A | CA370312749 | GATA4 | c.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 |
8 | g.11749020G>C | CA370312750 | GATA4 | c.718G>C (p.Ala240Pro) c.721G>C (p.Ala241Pro) c.100G>C (p.Ala34Pro) c.715G>C (p.Ala239Pro) | |
8 | g.11749020G= | CA1764079734 | GATA4 | c.718G= (p.Ala240=) c.721G= (p.Ala241=) c.100G= (p.Ala34=) c.715G= (p.Ala239=) | |
8 | g.11749020G>T | CA370312751 | GATA4 | c.718G>T (p.Ala240Ser) c.721G>T (p.Ala241Ser) c.100G>T (p.Ala34Ser) c.715G>T (p.Ala239Ser) | |
8 | g.11749021C>A | CA370312752 | GATA4 | c.719C>A (p.Ala240Asp) c.722C>A (p.Ala241Asp) c.101C>A (p.Ala34Asp) c.716C>A (p.Ala239Asp) | |
8 | g.11749021C>G | CA370312753 | GATA4 | c.719C>G (p.Ala240Gly) c.722C>G (p.Ala241Gly) c.101C>G (p.Ala34Gly) c.716C>G (p.Ala239Gly) | |
8 | g.11749021C>T | CA370312754 | GATA4 | c.719C>T (p.Ala240Val) c.722C>T (p.Ala241Val) c.101C>T (p.Ala34Val) c.716C>T (p.Ala239Val) | gnomAD v4 |
8 | g.11749022C>A | CA459310344 | GATA4 | c.720C>A (p.Ala240=) c.723C>A (p.Ala241=) c.102C>A (p.Ala34=) c.717C>A (p.Ala239=) | |
8 | g.11749022C>G | CA459310346 | GATA4 | c.720C>G (p.Ala240=) c.723C>G (p.Ala241=) c.102C>G (p.Ala34=) c.717C>G (p.Ala239=) | |
8 | g.11749022C>T | CA459310348 | GATA4 | c.720C>T (p.Ala240=) c.723C>T (p.Ala241=) c.102C>T (p.Ala34=) c.717C>T (p.Ala239=) | |
8 | g.11749023T>A | CA370312755 | GATA4 | c.721T>A (p.Cys241Ser) c.724T>A (p.Cys242Ser) c.103T>A (p.Cys35Ser) c.718T>A (p.Cys240Ser) | |
8 | g.11749023T>C | CA370312756 | GATA4 | c.721T>C (p.Cys241Arg) c.724T>C (p.Cys242Arg) c.103T>C (p.Cys35Arg) c.718T>C (p.Cys240Arg) | |
8 | g.11749023T>G | CA370312757 | GATA4 | c.721T>G (p.Cys241Gly) c.724T>G (p.Cys242Gly) c.103T>G (p.Cys35Gly) c.718T>G (p.Cys240Gly) | |
8 | g.11749024G>A | CA370312758 | GATA4 | c.722G>A (p.Cys241Tyr) c.725G>A (p.Cys242Tyr) c.104G>A (p.Cys35Tyr) c.719G>A (p.Cys240Tyr) | |
8 | g.11749024G>C | CA370312759 | GATA4 | c.722G>C (p.Cys241Ser) c.725G>C (p.Cys242Ser) c.104G>C (p.Cys35Ser) c.719G>C (p.Cys240Ser) | |
8 | g.11749024G>T | CA370312760 | GATA4 | c.722G>T (p.Cys241Phe) c.725G>T (p.Cys242Phe) c.104G>T (p.Cys35Phe) c.719G>T (p.Cys240Phe) | |
8 | g.11749025C>A | CA370312761 | GATA4 | c.723C>A (p.Cys241Ter) c.726C>A (p.Cys242Ter) c.105C>A (p.Cys35Ter) c.720C>A (p.Cys240Ter) | |
8 | g.11749025C= | CA1764079738 | GATA4 | c.723C= (p.Cys241=) c.726C= (p.Cys242=) c.105C= (p.Cys35=) c.720C= (p.Cys240=) | |
8 | g.11749025C>G | CA370312762 | GATA4 | c.723C>G (p.Cys241Trp) c.726C>G (p.Cys242Trp) c.105C>G (p.Cys35Trp) c.720C>G (p.Cys240Trp) | |
8 | g.11749025C>T | CA4630662 | GATA4 | c.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 |
8 | g.11749026G>A | CA16612345 | GATA4 | c.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 |
8 | g.11749026G>C | CA370312763 | GATA4 | c.724G>C (p.Gly242Arg) c.727G>C (p.Gly243Arg) c.106G>C (p.Gly36Arg) c.721G>C (p.Gly241Arg) | |
8 | g.11749026G= | CA1764079743 | GATA4 | c.724G= (p.Gly242=) c.727G= (p.Gly243=) c.106G= (p.Gly36=) c.721G= (p.Gly241=) | |
8 | g.11749026G>T | CA370312764 | GATA4 | c.724G>T (p.Gly242Cys) c.727G>T (p.Gly243Cys) c.106G>T (p.Gly36Cys) c.721G>T (p.Gly241Cys) | |
8 | g.11749027G>A | CA370312765 | GATA4 | c.725G>A (p.Gly242Asp) c.728G>A (p.Gly243Asp) c.107G>A (p.Gly36Asp) c.722G>A (p.Gly241Asp) | |
8 | g.11749027G>C | CA370312766 | GATA4 | c.725G>C (p.Gly242Ala) c.728G>C (p.Gly243Ala) c.107G>C (p.Gly36Ala) c.722G>C (p.Gly241Ala) | |
8 | g.11749027G>T | CA370312767 | GATA4 | c.725G>T (p.Gly242Val) c.728G>T (p.Gly243Val) c.107G>T (p.Gly36Val) c.722G>T (p.Gly241Val) | |
8 | g.11749028C>A | CA459310367 | GATA4 | c.726C>A (p.Gly242=) c.729C>A (p.Gly243=) c.108C>A (p.Gly36=) c.723C>A (p.Gly241=) | |
8 | g.11749028C= | CA1764079748 | GATA4 | c.726C= (p.Gly242=) c.729C= (p.Gly243=) c.108C= (p.Gly36=) c.723C= (p.Gly241=) | |
8 | g.11749028C>G | CA459310369 | GATA4 | c.726C>G (p.Gly242=) c.729C>G (p.Gly243=) c.108C>G (p.Gly36=) c.723C>G (p.Gly241=) | |
8 | g.11749028C>T | CA459310371 | GATA4 | c.726C>T (p.Gly242=) c.729C>T (p.Gly243=) c.108C>T (p.Gly36=) c.723C>T (p.Gly241=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11749029C>A | CA370312768 | GATA4 | c.727C>A (p.Leu243Ile) c.730C>A (p.Leu244Ile) c.109C>A (p.Leu37Ile) c.724C>A (p.Leu242Ile) | |
8 | g.11749029C= | CA1764079751 | GATA4 | c.727C= (p.Leu243=) c.730C= (p.Leu244=) c.109C= (p.Leu37=) c.724C= (p.Leu242=) | |
8 | g.11749029C>G | CA4630663 | GATA4 | c.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 |
8 | g.11749029C>T | CA370312769 | GATA4 | c.727C>T (p.Leu243Phe) c.730C>T (p.Leu244Phe) c.109C>T (p.Leu37Phe) c.724C>T (p.Leu242Phe) | |
8 | g.11749030T>A | CA370312770 | GATA4 | c.728T>A (p.Leu243His) c.731T>A (p.Leu244His) c.110T>A (p.Leu37His) c.725T>A (p.Leu242His) | |
8 | g.11749030T>C | CA370312771 | GATA4 | c.728T>C (p.Leu243Pro) c.731T>C (p.Leu244Pro) c.110T>C (p.Leu37Pro) c.725T>C (p.Leu242Pro) | |
8 | g.11749030T>G | CA370312772 | GATA4 | c.728T>G (p.Leu243Arg) c.731T>G (p.Leu244Arg) c.110T>G (p.Leu37Arg) c.725T>G (p.Leu242Arg) | |
8 | g.11749031C>A | CA459310378 | GATA4 | c.729C>A (p.Leu243=) c.732C>A (p.Leu244=) c.111C>A (p.Leu37=) c.726C>A (p.Leu242=) | |
8 | g.11749031C= | CA1764079754 | GATA4 | c.729C= (p.Leu243=) c.732C= (p.Leu244=) c.111C= (p.Leu37=) c.726C= (p.Leu242=) | |
8 | g.11749031C>G | CA4630664 | GATA4 | c.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 |
8 | g.11749031C>T | CA459310381 | GATA4 | c.729C>T (p.Leu243=) c.732C>T (p.Leu244=) c.111C>T (p.Leu37=) c.726C>T (p.Leu242=) | |
8 | g.11749032T>A | CA370312775 | GATA4 | c.730T>A (p.Tyr244Asn) c.733T>A (p.Tyr245Asn) c.112T>A (p.Tyr38Asn) c.727T>A (p.Tyr243Asn) | dbSNP |
8 | g.11749032T>C | CA370312773 | GATA4 | c.730T>C (p.Tyr244His) c.733T>C (p.Tyr245His) c.112T>C (p.Tyr38His) c.727T>C (p.Tyr243His) | |
8 | g.11749032T>G | CA370312774 | GATA4 | c.730T>G (p.Tyr244Asp) c.733T>G (p.Tyr245Asp) c.112T>G (p.Tyr38Asp) c.727T>G (p.Tyr243Asp) | |
8 | g.11749032T= | CA1764079761 | GATA4 | c.730T= (p.Tyr244=) c.733T= (p.Tyr245=) c.112T= (p.Tyr38=) c.727T= (p.Tyr243=) | |
8 | g.11749033A>C | CA370312776 | GATA4 | c.731A>C (p.Tyr244Ser) c.734A>C (p.Tyr245Ser) c.113A>C (p.Tyr38Ser) c.728A>C (p.Tyr243Ser) | |
8 | g.11749033A>G | CA370312777 | GATA4 | c.731A>G (p.Tyr244Cys) c.734A>G (p.Tyr245Cys) c.113A>G (p.Tyr38Cys) c.728A>G (p.Tyr243Cys) | |
8 | g.11749033A>T | CA370312778 | GATA4 | c.731A>T (p.Tyr244Phe) c.734A>T (p.Tyr245Phe) c.113A>T (p.Tyr38Phe) c.728A>T (p.Tyr243Phe) | |
8 | g.11749034C>A | CA370312779 | GATA4 | c.732C>A (p.Tyr244Ter) c.735C>A (p.Tyr245Ter) c.114C>A (p.Tyr38Ter) c.729C>A (p.Tyr243Ter) | |
8 | g.11749034C= | CA1764079765 | GATA4 | c.732C= (p.Tyr244=) c.735C= (p.Tyr245=) c.114C= (p.Tyr38=) c.729C= (p.Tyr243=) | |
8 | g.11749034C>G | CA370312780 | GATA4 | c.732C>G (p.Tyr244Ter) c.735C>G (p.Tyr245Ter) c.114C>G (p.Tyr38Ter) c.729C>G (p.Tyr243Ter) | |
8 | g.11749034C>T | CA182795 | GATA4 | c.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 |
8 | g.11749035C>A | CA370312781 | GATA4 | c.733C>A (p.His245Asn) c.736C>A (p.His246Asn) c.115C>A (p.His39Asn) c.730C>A (p.His244Asn) | |
8 | g.11749035C>G | CA370312782 | GATA4 | c.733C>G (p.His245Asp) c.736C>G (p.His246Asp) c.115C>G (p.His39Asp) c.730C>G (p.His244Asp) | |
8 | g.11749035C>T | CA370312783 | GATA4 | c.733C>T (p.His245Tyr) c.736C>T (p.His246Tyr) c.115C>T (p.His39Tyr) c.730C>T (p.His244Tyr) | |
8 | g.11749036A= | CA1764079769 | GATA4 | c.734A= (p.His245=) c.737A= (p.His246=) c.116A= (p.His39=) c.731A= (p.His244=) | |
8 | g.11749036A>C | CA370312784 | GATA4 | c.734A>C (p.His245Pro) c.737A>C (p.His246Pro) c.116A>C (p.His39Pro) c.731A>C (p.His244Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11749036A>G | CA370312785 | GATA4 | c.734A>G (p.His245Arg) c.737A>G (p.His246Arg) c.116A>G (p.His39Arg) c.731A>G (p.His244Arg) | |
8 | g.11749036A>T | CA370312786 | GATA4 | c.734A>T (p.His245Leu) c.737A>T (p.His246Leu) c.116A>T (p.His39Leu) c.731A>T (p.His244Leu) | |
8 | g.11749037C>A | CA370312788 | GATA4 | c.735C>A (p.His245Gln) c.738C>A (p.His246Gln) c.117C>A (p.His39Gln) c.732C>A (p.His244Gln) | |
8 | g.11749037C>G | CA370312787 | GATA4 | c.735C>G (p.His245Gln) c.738C>G (p.His246Gln) c.117C>G (p.His39Gln) c.732C>G (p.His244Gln) | gnomAD v4 |
8 | g.11749037C>T | CA459310400 | GATA4 | c.735C>T (p.His245=) c.738C>T (p.His246=) c.117C>T (p.His39=) c.732C>T (p.His244=) | gnomAD v4 |
8 | g.11749038A>C | CA370312789 | GATA4 | c.736A>C (p.Lys246Gln) c.739A>C (p.Lys247Gln) c.118A>C (p.Lys40Gln) c.733A>C (p.Lys245Gln) | |
8 | g.11749038A>G | CA370312790 | GATA4 | c.736A>G (p.Lys246Glu) c.739A>G (p.Lys247Glu) c.118A>G (p.Lys40Glu) c.733A>G (p.Lys245Glu) | |
8 | g.11749038A>T | CA370312791 | GATA4 | c.736A>T (p.Lys246Ter) c.739A>T (p.Lys247Ter) c.118A>T (p.Lys40Ter) c.733A>T (p.Lys245Ter) | |
8 | g.11749039A>C | CA370312792 | GATA4 | c.737A>C (p.Lys246Thr) c.740A>C (p.Lys247Thr) c.119A>C (p.Lys40Thr) c.734A>C (p.Lys245Thr) | |
8 | g.11749039A>G | CA370312793 | GATA4 | c.737A>G (p.Lys246Arg) c.740A>G (p.Lys247Arg) c.119A>G (p.Lys40Arg) c.734A>G (p.Lys245Arg) | gnomAD v4 |
8 | g.11749039A>T | CA370312794 | GATA4 | c.737A>T (p.Lys246Met) c.740A>T (p.Lys247Met) c.119A>T (p.Lys40Met) c.734A>T (p.Lys245Met) | |
8 | g.11749040G>A | CA4630665 | GATA4 | c.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 |
8 | g.11749040G>C | CA370312796 | GATA4 | c.738G>C (p.Lys246Asn) c.741G>C (p.Lys247Asn) c.120G>C (p.Lys40Asn) c.735G>C (p.Lys245Asn) | |
8 | g.11749040G= | CA1764079772 | GATA4 | c.738G= (p.Lys246=) c.741G= (p.Lys247=) c.120G= (p.Lys40=) c.735G= (p.Lys245=) | |
8 | g.11749040G>T | CA370312795 | GATA4 | c.738G>T (p.Lys246Asn) c.741G>T (p.Lys247Asn) c.120G>T (p.Lys40Asn) c.735G>T (p.Lys245Asn) | |
8 | g.11749041A>C | CA370312797 | GATA4 | c.739A>C (p.Met247Leu) c.742A>C (p.Met248Leu) c.121A>C (p.Met41Leu) c.736A>C (p.Met246Leu) | |
8 | g.11749041A>G | CA370312798 | GATA4 | c.739A>G (p.Met247Val) c.742A>G (p.Met248Val) c.121A>G (p.Met41Val) c.736A>G (p.Met246Val) | ClinVar dbSNP gnomAD v4 |
8 | g.11749041A>T | CA370312799 | GATA4 | c.739A>T (p.Met247Leu) c.742A>T (p.Met248Leu) c.121A>T (p.Met41Leu) c.736A>T (p.Met246Leu) | |
8 | g.11749042T>A | CA370312800 | GATA4 | c.740T>A (p.Met247Lys) c.743T>A (p.Met248Lys) c.122T>A (p.Met41Lys) c.737T>A (p.Met246Lys) | |
8 | g.11749042T>C | CA370312801 | GATA4 | c.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 |
8 | g.11749042T>G | CA370312802 | GATA4 | c.740T>G (p.Met247Arg) c.743T>G (p.Met248Arg) c.122T>G (p.Met41Arg) c.737T>G (p.Met246Arg) | |
8 | g.11749042T= | CA1764079775 | GATA4 | c.740T= (p.Met247=) c.743T= (p.Met248=) c.122T= (p.Met41=) c.737T= (p.Met246=) | |
8 | g.11749043G>A | CA370312803 | GATA4 | c.741G>A (p.Met247Ile) c.744G>A (p.Met248Ile) c.123G>A (p.Met41Ile) c.738G>A (p.Met246Ile) | |
8 | g.11749043G>C | CA370312805 | GATA4 | c.741G>C (p.Met247Ile) c.744G>C (p.Met248Ile) c.123G>C (p.Met41Ile) c.738G>C (p.Met246Ile) | |
8 | g.11749043G>T | CA370312804 | GATA4 | c.741G>T (p.Met247Ile) c.744G>T (p.Met248Ile) c.123G>T (p.Met41Ile) c.738G>T (p.Met246Ile) | |
8 | g.11749044A>C | CA370312806 | GATA4 | c.742A>C (p.Asn248His) c.745A>C (p.Asn249His) c.124A>C (p.Asn42His) c.739A>C (p.Asn247His) | |
8 | g.11749044A>G | CA370312807 | GATA4 | c.742A>G (p.Asn248Asp) c.745A>G (p.Asn249Asp) c.124A>G (p.Asn42Asp) c.739A>G (p.Asn247Asp) | |
8 | g.11749044A>T | CA370312808 | GATA4 | c.742A>T (p.Asn248Tyr) c.745A>T (p.Asn249Tyr) c.124A>T (p.Asn42Tyr) c.739A>T (p.Asn247Tyr) | |
8 | g.11749045A= | CA1764079778 | GATA4 | c.743A= (p.Asn248=) c.746A= (p.Asn249=) c.125A= (p.Asn42=) c.740A= (p.Asn247=) | |
8 | g.11749045A>C | CA370312809 | GATA4 | c.743A>C (p.Asn248Thr) c.746A>C (p.Asn249Thr) c.125A>C (p.Asn42Thr) c.740A>C (p.Asn247Thr) | |
8 | g.11749045A>G | CA4630666 | GATA4 | c.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 |
8 | g.11749045A>T | CA370312810 | GATA4 | c.743A>T (p.Asn248Ile) c.746A>T (p.Asn249Ile) c.125A>T (p.Asn42Ile) c.740A>T (p.Asn247Ile) | |
8 | g.11749046C>A | CA172113195 | GATA4 | c.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 |
8 | g.11749046C= | CA1764079779 | GATA4 | c.744C= (p.Asn248=) c.747C= (p.Asn249=) c.126C= (p.Asn42=) c.741C= (p.Asn247=) | |
8 | g.11749046C>G | CA370312811 | GATA4 | c.744C>G (p.Asn248Lys) c.747C>G (p.Asn249Lys) c.126C>G (p.Asn42Lys) c.741C>G (p.Asn247Lys) | gnomAD v4 |
8 | g.11749046C>T | CA4630667 | GATA4 | c.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 |
8 | g.11749047G>A | CA370312812 | GATA4 | c.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 |
8 | g.11749047G>C | CA370312813 | GATA4 | c.745G>C (p.Gly249Arg) c.748G>C (p.Gly250Arg) c.127G>C (p.Gly43Arg) c.742G>C (p.Gly248Arg) | |
8 | g.11749047G= | CA1764079780 | GATA4 | c.745G= (p.Gly249=) c.748G= (p.Gly250=) c.127G= (p.Gly43=) c.742G= (p.Gly248=) | |
8 | g.11749047G>T | CA370312814 | GATA4 | c.745G>T (p.Gly249Cys) c.748G>T (p.Gly250Cys) c.127G>T (p.Gly43Cys) c.742G>T (p.Gly248Cys) | ClinVar dbSNP |
8 | g.11749048G>A | CA370312816 | GATA4 | c.746G>A (p.Gly249Asp) c.749G>A (p.Gly250Asp) c.128G>A (p.Gly43Asp) c.743G>A (p.Gly248Asp) | |
8 | g.11749048G>C | CA370312817 | GATA4 | c.746G>C (p.Gly249Ala) c.749G>C (p.Gly250Ala) c.128G>C (p.Gly43Ala) c.743G>C (p.Gly248Ala) | |
8 | g.11749048G>T | CA370312815 | GATA4 | c.746G>T (p.Gly249Val) c.749G>T (p.Gly250Val) c.128G>T (p.Gly43Val) c.743G>T (p.Gly248Val) | |
8 | g.11749049C>A | CA459310426 | GATA4 | c.747C>A (p.Gly249=) c.750C>A (p.Gly250=) c.129C>A (p.Gly43=) c.744C>A (p.Gly248=) | |
8 | g.11749049C= | CA1764079782 | GATA4 | c.747C= (p.Gly249=) c.750C= (p.Gly250=) c.129C= (p.Gly43=) c.744C= (p.Gly248=) | |
8 | g.11749049C>G | CA459310427 | GATA4 | c.747C>G (p.Gly249=) c.750C>G (p.Gly250=) c.129C>G (p.Gly43=) c.744C>G (p.Gly248=) | |
8 | g.11749049C>T | CA4630668 | GATA4 | c.747C>T (p.Gly249=) c.750C>T (p.Gly250=) c.129C>T (p.Gly43=) c.744C>T (p.Gly248=) | dbSNP ExAC gnomAD v4 |
8 | g.11749050A>C | CA370312818 | GATA4 | c.748A>C (p.Ile250Leu) c.751A>C (p.Ile251Leu) c.130A>C (p.Ile44Leu) c.745A>C (p.Ile249Leu) | |
8 | g.11749050A>G | CA370312820 | GATA4 | c.748A>G (p.Ile250Val) c.751A>G (p.Ile251Val) c.130A>G (p.Ile44Val) c.745A>G (p.Ile249Val) | |
8 | g.11749050A>T | CA370312819 | GATA4 | c.748A>T (p.Ile250Phe) c.751A>T (p.Ile251Phe) c.130A>T (p.Ile44Phe) c.745A>T (p.Ile249Phe) | |
8 | g.11749051T>A | CA370312821 | GATA4 | c.749T>A (p.Ile250Asn) c.752T>A (p.Ile251Asn) c.131T>A (p.Ile44Asn) c.746T>A (p.Ile249Asn) | dbSNP gnomAD v2 |
8 | g.11749051T>C | CA370312822 | GATA4 | c.749T>C (p.Ile250Thr) c.752T>C (p.Ile251Thr) c.131T>C (p.Ile44Thr) c.746T>C (p.Ile249Thr) | |
8 | g.11749051T>G | CA370312823 | GATA4 | c.749T>G (p.Ile250Ser) c.752T>G (p.Ile251Ser) c.131T>G (p.Ile44Ser) c.746T>G (p.Ile249Ser) | |
8 | g.11749051T= | CA1764079784 | GATA4 | c.749T= (p.Ile250=) c.752T= (p.Ile251=) c.131T= (p.Ile44=) c.746T= (p.Ile249=) | |
8 | g.11749052C>A | CA459310434 | GATA4 | c.750C>A (p.Ile250=) c.753C>A (p.Ile251=) c.132C>A (p.Ile44=) c.747C>A (p.Ile249=) | |
8 | g.11749052C= | CA1764079785 | GATA4 | c.750C= (p.Ile250=) c.753C= (p.Ile251=) c.132C= (p.Ile44=) c.747C= (p.Ile249=) | |
8 | g.11749052C>G | CA370312824 | GATA4 | c.750C>G (p.Ile250Met) c.753C>G (p.Ile251Met) c.132C>G (p.Ile44Met) c.747C>G (p.Ile249Met) | |
8 | g.11749052C>T | CA459310437 | GATA4 | c.750C>T (p.Ile250=) c.753C>T (p.Ile251=) c.132C>T (p.Ile44=) c.747C>T (p.Ile249=) | dbSNP gnomAD v2 |
8 | g.11749053A>C | CA370312825 | GATA4 | c.751A>C (p.Asn251His) c.754A>C (p.Asn252His) c.133A>C (p.Asn45His) c.748A>C (p.Asn250His) | |
8 | g.11749053A>G | CA370312826 | GATA4 | c.751A>G (p.Asn251Asp) c.754A>G (p.Asn252Asp) c.133A>G (p.Asn45Asp) c.748A>G (p.Asn250Asp) | |
8 | g.11749053A>T | CA370312827 | GATA4 | c.751A>T (p.Asn251Tyr) c.754A>T (p.Asn252Tyr) c.133A>T (p.Asn45Tyr) c.748A>T (p.Asn250Tyr) | |
8 | g.11749054A= | CA1764079786 | GATA4 | c.752A= (p.Asn251=) c.755A= (p.Asn252=) c.134A= (p.Asn45=) c.749A= (p.Asn250=) | |
8 | g.11749054A>C | CA370312828 | GATA4 | c.752A>C (p.Asn251Thr) c.755A>C (p.Asn252Thr) c.134A>C (p.Asn45Thr) c.749A>C (p.Asn250Thr) | dbSNP |
8 | g.11749054A>G | CA370312829 | GATA4 | c.752A>G (p.Asn251Ser) c.755A>G (p.Asn252Ser) c.134A>G (p.Asn45Ser) c.749A>G (p.Asn250Ser) | |
8 | g.11749054A>T | CA370312830 | GATA4 | c.752A>T (p.Asn251Ile) c.755A>T (p.Asn252Ile) c.134A>T (p.Asn45Ile) c.749A>T (p.Asn250Ile) | |
8 | g.11749055C>A | CA370312831 | GATA4 | c.753C>A (p.Asn251Lys) c.756C>A (p.Asn252Lys) c.135C>A (p.Asn45Lys) c.750C>A (p.Asn250Lys) | |
8 | g.11749055C= | CA1764079787 | GATA4 | c.753C= (p.Asn251=) c.756C= (p.Asn252=) c.135C= (p.Asn45=) c.750C= (p.Asn250=) | |
8 | g.11749055C>G | CA4630669 | GATA4 | c.753C>G (p.Asn251Lys) c.756C>G (p.Asn252Lys) c.135C>G (p.Asn45Lys) c.750C>G (p.Asn250Lys) | dbSNP ExAC gnomAD v4 |
8 | g.11749055C>T | CA459310445 | GATA4 | c.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 |
8 | g.11749056C>A | CA459310447 | GATA4 | c.754C>A (p.Arg252=) c.757C>A (p.Arg253=) c.136C>A (p.Arg46=) c.751C>A (p.Arg251=) | dbSNP |
8 | g.11749056C= | CA1764079789 | GATA4 | c.754C= (p.Arg252=) c.757C= (p.Arg253=) c.136C= (p.Arg46=) c.751C= (p.Arg251=) | |
8 | g.11749056C>G | CA370312832 | GATA4 | c.754C>G (p.Arg252Gly) c.757C>G (p.Arg253Gly) c.136C>G (p.Arg46Gly) c.751C>G (p.Arg251Gly) | |
8 | g.11749056C>T | CA370312833 | GATA4 | c.754C>T (p.Arg252Trp) c.757C>T (p.Arg253Trp) c.136C>T (p.Arg46Trp) c.751C>T (p.Arg251Trp) | dbSNP gnomAD v4 |
8 | g.11749057G>A | CA370312834 | GATA4 | c.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 |
8 | g.11749057G>C | CA370312835 | GATA4 | c.755G>C (p.Arg252Pro) c.758G>C (p.Arg253Pro) c.137G>C (p.Arg46Pro) c.752G>C (p.Arg251Pro) | |
8 | g.11749057G= | CA1764079791 | GATA4 | c.755G= (p.Arg252=) c.758G= (p.Arg253=) c.137G= (p.Arg46=) c.752G= (p.Arg251=) | |
8 | g.11749057G>T | CA370312836 | GATA4 | c.755G>T (p.Arg252Leu) c.758G>T (p.Arg253Leu) c.137G>T (p.Arg46Leu) c.752G>T (p.Arg251Leu) | |
8 | g.11749057_11749058insTTATTATATCTTTATGCAAAAGGAAAAGTAATCTTACTAACTTTGAAAGGGAAAAAGAGAGAGCAAGGTTTGCGT | CA580031681 | GATA4 | c.755_756insTTATTATATCTTTATGCAAAAGGAAAAGTAATCTTACTAACTTTGAAAGGGAAAAAGAGAGAGCAAGGTTTGCGT (p.Arg253TyrfsTer10) c.758_759insTTATTATATCTTTATGCAAAAGGAAAAGTAATCTTACTAACTTTGAAAGGGAAAAAGAGAGAGCAAGGTTTGCGT (p.Arg254TyrfsTer10) c.137_138insTTATTATATCTTTATGCAAAAGGAAAAGTAATCTTACTAACTTTGAAAGGGAAAAAGAGAGAGCAAGGTTTGCGT (p.Arg47TyrfsTer10) c.752_753insTTATTATATCTTTATGCAAAAGGAAAAGTAATCTTACTAACTTTGAAAGGGAAAAAGAGAGAGCAAGGTTTGCGT (p.Arg252TyrfsTer10) | dbSNP gnomAD v2 |
8 | g.11749058G>A | CA459310455 | GATA4 | c.756G>A (p.Arg252=) c.759G>A (p.Arg253=) c.138G>A (p.Arg46=) c.753G>A (p.Arg251=) | |
8 | g.11749058G>C | CA459310457 | GATA4 | c.756G>C (p.Arg252=) c.759G>C (p.Arg253=) c.138G>C (p.Arg46=) c.753G>C (p.Arg251=) | |
8 | g.11749058G>T | CA459310459 | GATA4 | c.756G>T (p.Arg252=) c.759G>T (p.Arg253=) c.138G>T (p.Arg46=) c.753G>T (p.Arg251=) | |
8 | g.11749059C>A | CA370312837 | GATA4 | c.757C>A (p.Pro253Thr) c.760C>A (p.Pro254Thr) c.139C>A (p.Pro47Thr) c.754C>A (p.Pro252Thr) | |
8 | g.11749059C>G | CA370312838 | GATA4 | c.757C>G (p.Pro253Ala) c.760C>G (p.Pro254Ala) c.139C>G (p.Pro47Ala) c.754C>G (p.Pro252Ala) | |
8 | g.11749059C>T | CA370312839 | GATA4 | c.757C>T (p.Pro253Ser) c.760C>T (p.Pro254Ser) c.139C>T (p.Pro47Ser) c.754C>T (p.Pro252Ser) | |
8 | g.11749060C>A | CA370312840 | GATA4 | c.758C>A (p.Pro253Gln) c.761C>A (p.Pro254Gln) c.140C>A (p.Pro47Gln) c.755C>A (p.Pro252Gln) | |
8 | g.11749060C= | CA1764079798 | GATA4 | c.758C= (p.Pro253=) c.761C= (p.Pro254=) c.140C= (p.Pro47=) c.755C= (p.Pro252=) | |
8 | g.11749060C>G | CA370312841 | GATA4 | c.758C>G (p.Pro253Arg) c.761C>G (p.Pro254Arg) c.140C>G (p.Pro47Arg) c.755C>G (p.Pro252Arg) | |
8 | g.11749060C>T | CA4630670 | GATA4 | c.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 |
8 | g.11749061G>A | CA4630671 | GATA4 | c.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 |
8 | g.11749061G>C | CA459310469 | GATA4 | c.759G>C (p.Pro253=) c.762G>C (p.Pro254=) c.141G>C (p.Pro47=) c.756G>C (p.Pro252=) | |
8 | g.11749061G= | CA1764079802 | GATA4 | c.759G= (p.Pro253=) c.762G= (p.Pro254=) c.141G= (p.Pro47=) c.756G= (p.Pro252=) | |
8 | g.11749061G>T | CA459310471 | GATA4 | c.759G>T (p.Pro253=) c.762G>T (p.Pro254=) c.141G>T (p.Pro47=) c.756G>T (p.Pro252=) | |
8 | g.11749062C>A | CA370312842 | GATA4 | c.760C>A (p.Leu254Ile) c.763C>A (p.Leu255Ile) c.142C>A (p.Leu48Ile) c.757C>A (p.Leu253Ile) | |
8 | g.11749062C>G | CA370312843 | GATA4 | c.760C>G (p.Leu254Val) c.763C>G (p.Leu255Val) c.142C>G (p.Leu48Val) c.757C>G (p.Leu253Val) | gnomAD v4 |
8 | g.11749062C>T | CA370312844 | GATA4 | c.760C>T (p.Leu254Phe) c.763C>T (p.Leu255Phe) c.142C>T (p.Leu48Phe) c.757C>T (p.Leu253Phe) | |
8 | g.11749063T>A | CA370312845 | GATA4 | c.761T>A (p.Leu254His) c.764T>A (p.Leu255His) c.143T>A (p.Leu48His) c.758T>A (p.Leu253His) | ClinVar |
8 | g.11749063T>C | CA370312847 | GATA4 | c.761T>C (p.Leu254Pro) c.764T>C (p.Leu255Pro) c.143T>C (p.Leu48Pro) c.758T>C (p.Leu253Pro) | gnomAD v4 |
8 | g.11749063T>G | CA370312846 | GATA4 | c.761T>G (p.Leu254Arg) c.764T>G (p.Leu255Arg) c.143T>G (p.Leu48Arg) c.758T>G (p.Leu253Arg) | gnomAD v4 |
8 | g.11749064C>A | CA459310478 | GATA4 | c.762C>A (p.Leu254=) c.765C>A (p.Leu255=) c.144C>A (p.Leu48=) c.759C>A (p.Leu253=) | gnomAD v4 |
8 | g.11749064C= | CA1764079806 | GATA4 | c.762C= (p.Leu254=) c.765C= (p.Leu255=) c.144C= (p.Leu48=) c.759C= (p.Leu253=) | |
8 | g.11749064C>G | CA459310479 | GATA4 | c.762C>G (p.Leu254=) c.765C>G (p.Leu255=) c.144C>G (p.Leu48=) c.759C>G (p.Leu253=) | |
8 | g.11749064C>T | CA459310481 | GATA4 | c.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 |
8 | g.11749065A= | CA1764079809 | GATA4 | c.763A= (p.Ile255=) c.766A= (p.Ile256=) c.145A= (p.Ile49=) c.760A= (p.Ile254=) | |
8 | g.11749065A>C | CA172113219 | GATA4 | c.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 |
8 | g.11749065A>G | CA370312848 | GATA4 | c.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 |
8 | g.11749065A>T | CA370312849 | GATA4 | c.763A>T (p.Ile255Phe) c.766A>T (p.Ile256Phe) c.145A>T (p.Ile49Phe) c.760A>T (p.Ile254Phe) | |
8 | g.11749066T>A | CA370312850 | GATA4 | c.764T>A (p.Ile255Asn) c.767T>A (p.Ile256Asn) c.146T>A (p.Ile49Asn) c.761T>A (p.Ile254Asn) | |
8 | g.11749066T>C | CA370312851 | GATA4 | c.764T>C (p.Ile255Thr) c.767T>C (p.Ile256Thr) c.146T>C (p.Ile49Thr) c.761T>C (p.Ile254Thr) | |
8 | g.11749066T>G | CA370312852 | GATA4 | c.764T>G (p.Ile255Ser) c.767T>G (p.Ile256Ser) c.146T>G (p.Ile49Ser) c.761T>G (p.Ile254Ser) | |
8 | g.11749067C>A | CA459310489 | GATA4 | c.765C>A (p.Ile255=) c.768C>A (p.Ile256=) c.147C>A (p.Ile49=) c.762C>A (p.Ile254=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11749067C= | CA1764079814 | GATA4 | c.765C= (p.Ile255=) c.768C= (p.Ile256=) c.147C= (p.Ile49=) c.762C= (p.Ile254=) | |
8 | g.11749067C>G | CA370312853 | GATA4 | c.765C>G (p.Ile255Met) c.768C>G (p.Ile256Met) c.147C>G (p.Ile49Met) c.762C>G (p.Ile254Met) | ClinVar dbSNP |
8 | g.11749067C>T | CA4630672 | GATA4 | c.765C>T (p.Ile255=) c.768C>T (p.Ile256=) c.147C>T (p.Ile49=) c.762C>T (p.Ile254=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11749068A>C | CA370312854 | GATA4 | c.766A>C (p.Lys256Gln) c.769A>C (p.Lys257Gln) c.148A>C (p.Lys50Gln) c.763A>C (p.Lys255Gln) | |
8 | g.11749068A>G | CA370312855 | GATA4 | c.766A>G (p.Lys256Glu) c.769A>G (p.Lys257Glu) c.148A>G (p.Lys50Glu) c.763A>G (p.Lys255Glu) | |
8 | g.11749068A>T | CA370312856 | GATA4 | c.766A>T (p.Lys256Ter) c.769A>T (p.Lys257Ter) c.148A>T (p.Lys50Ter) c.763A>T (p.Lys255Ter) | |
8 | g.11749069A>C | CA370312857 | GATA4 | c.767A>C (p.Lys256Thr) c.770A>C (p.Lys257Thr) c.149A>C (p.Lys50Thr) c.764A>C (p.Lys255Thr) | |
8 | g.11749069A>G | CA370312858 | GATA4 | c.767A>G (p.Lys256Arg) c.770A>G (p.Lys257Arg) c.149A>G (p.Lys50Arg) c.764A>G (p.Lys255Arg) | |
8 | g.11749069A>T | CA370312859 | GATA4 | c.767A>T (p.Lys256Met) c.770A>T (p.Lys257Met) c.149A>T (p.Lys50Met) c.764A>T (p.Lys255Met) |