Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.11758429A= | CA1764074327 | GATA4 | c.1283A= (p.Asn428=) c.1286A= (p.Asn429=) n.728A= c.665A= (p.Asn222=) c.1280A= (p.Asn427=) c.539A= (p.Asn180=) | |
8 | g.11758429A>C | CA172121516 | GATA4 | c.1283A>C (p.Asn428Thr) c.1286A>C (p.Asn429Thr) n.728A>C c.665A>C (p.Asn222Thr) c.1280A>C (p.Asn427Thr) c.539A>C (p.Asn180Thr) | dbSNP |
8 | g.11758429A>G | CA370315806 | GATA4 | c.1283A>G (p.Asn428Ser) c.1286A>G (p.Asn429Ser) n.728A>G c.665A>G (p.Asn222Ser) c.1280A>G (p.Asn427Ser) c.539A>G (p.Asn180Ser) | ClinVar dbSNP |
8 | g.11758429A>T | CA370315807 | GATA4 | c.1283A>T (p.Asn428Ile) c.1286A>T (p.Asn429Ile) n.728A>T c.665A>T (p.Asn222Ile) c.1280A>T (p.Asn427Ile) c.539A>T (p.Asn180Ile) | |
8 | g.11758430C>A | CA370315808 | GATA4 | c.1284C>A (p.Asn428Lys) c.1287C>A (p.Asn429Lys) n.729C>A c.666C>A (p.Asn222Lys) c.1281C>A (p.Asn427Lys) c.540C>A (p.Asn180Lys) | |
8 | g.11758430C>G | CA370315809 | GATA4 | c.1284C>G (p.Asn428Lys) c.1287C>G (p.Asn429Lys) n.729C>G c.666C>G (p.Asn222Lys) c.1281C>G (p.Asn427Lys) c.540C>G (p.Asn180Lys) | |
8 | g.11758430C>T | CA459314427 | GATA4 | c.1284C>T (p.Asn428=) c.1287C>T (p.Asn429=) n.729C>T c.666C>T (p.Asn222=) c.1281C>T (p.Asn427=) c.540C>T (p.Asn180=) | gnomAD v4 |
8 | g.11758431A= | CA1764074331 | GATA4 | c.1285A= (p.Ser429=) c.1288A= (p.Ser430=) n.730A= c.667A= (p.Ser223=) c.1282A= (p.Ser428=) c.541A= (p.Ser181=) | |
8 | g.11758431A>C | CA370315810 | GATA4 | c.1285A>C (p.Ser429Arg) c.1288A>C (p.Ser430Arg) n.730A>C c.667A>C (p.Ser223Arg) c.1282A>C (p.Ser428Arg) c.541A>C (p.Ser181Arg) | |
8 | g.11758431A>G | CA4630902 | GATA4 | c.1285A>G (p.Ser429Gly) c.1288A>G (p.Ser430Gly) n.730A>G c.667A>G (p.Ser223Gly) c.1282A>G (p.Ser428Gly) c.541A>G (p.Ser181Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758431A>T | CA370315811 | GATA4 | c.1285A>T (p.Ser429Cys) c.1288A>T (p.Ser430Cys) n.730A>T c.667A>T (p.Ser223Cys) c.1282A>T (p.Ser428Cys) c.541A>T (p.Ser181Cys) | |
8 | g.11758432G>A | CA370315812 | GATA4 | c.1286G>A (p.Ser429Asn) c.1289G>A (p.Ser430Asn) n.731G>A c.668G>A (p.Ser223Asn) c.1283G>A (p.Ser428Asn) c.542G>A (p.Ser181Asn) | ClinVar |
8 | g.11758432G>C | CA370315813 | GATA4 | c.1286G>C (p.Ser429Thr) c.1289G>C (p.Ser430Thr) n.731G>C c.668G>C (p.Ser223Thr) c.1283G>C (p.Ser428Thr) c.542G>C (p.Ser181Thr) | gnomAD v4 |
8 | g.11758432G>T | CA370315814 | GATA4 | c.1286G>T (p.Ser429Ile) c.1289G>T (p.Ser430Ile) n.731G>T c.668G>T (p.Ser223Ile) c.1283G>T (p.Ser428Ile) c.542G>T (p.Ser181Ile) | |
8 | g.11758433C>A | CA4630903 | GATA4 | c.1287C>A (p.Ser429Arg) c.1290C>A (p.Ser430Arg) n.732C>A c.669C>A (p.Ser223Arg) c.1284C>A (p.Ser428Arg) c.543C>A (p.Ser181Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758433C= | CA1764074335 | GATA4 | c.1287C= (p.Ser429=) c.1290C= (p.Ser430=) n.732C= c.669C= (p.Ser223=) c.1284C= (p.Ser428=) c.543C= (p.Ser181=) | |
8 | g.11758433C>G | CA370315815 | GATA4 | c.1287C>G (p.Ser429Arg) c.1290C>G (p.Ser430Arg) n.732C>G c.669C>G (p.Ser223Arg) c.1284C>G (p.Ser428Arg) c.543C>G (p.Ser181Arg) | dbSNP gnomAD v4 |
8 | g.11758433C>T | CA172121521 | GATA4 | c.1287C>T (p.Ser429=) c.1290C>T (p.Ser430=) n.732C>T c.669C>T (p.Ser223=) c.1284C>T (p.Ser428=) c.543C>T (p.Ser181=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758434C>A | CA370315816 | GATA4 | c.1288C>A (p.Leu430Met) c.1291C>A (p.Leu431Met) n.733C>A c.670C>A (p.Leu224Met) c.1285C>A (p.Leu429Met) c.544C>A (p.Leu182Met) | |
8 | g.11758434C>G | CA370315817 | GATA4 | c.1288C>G (p.Leu430Val) c.1291C>G (p.Leu431Val) n.733C>G c.670C>G (p.Leu224Val) c.1285C>G (p.Leu429Val) c.544C>G (p.Leu182Val) | |
8 | g.11758434C>T | CA459314449 | GATA4 | c.1288C>T (p.Leu430=) c.1291C>T (p.Leu431=) n.733C>T c.670C>T (p.Leu224=) c.1285C>T (p.Leu429=) c.544C>T (p.Leu182=) | gnomAD v4 |
8 | g.11758435T>A | CA370315819 | GATA4 | c.1289T>A (p.Leu430Gln) c.1292T>A (p.Leu431Gln) n.734T>A c.671T>A (p.Leu224Gln) c.1286T>A (p.Leu429Gln) c.545T>A (p.Leu182Gln) | |
8 | g.11758435T>C | CA370315820 | GATA4 | c.1289T>C (p.Leu430Pro) c.1292T>C (p.Leu431Pro) n.734T>C c.671T>C (p.Leu224Pro) c.1286T>C (p.Leu429Pro) c.545T>C (p.Leu182Pro) | gnomAD v4 |
8 | g.11758435T>G | CA370315818 | GATA4 | c.1289T>G (p.Leu430Arg) c.1292T>G (p.Leu431Arg) n.734T>G c.671T>G (p.Leu224Arg) c.1286T>G (p.Leu429Arg) c.545T>G (p.Leu182Arg) | |
8 | g.11758436G>A | CA459314457 | GATA4 | c.1290G>A (p.Leu430=) c.1293G>A (p.Leu431=) n.735G>A c.672G>A (p.Leu224=) c.1287G>A (p.Leu429=) c.546G>A (p.Leu182=) | |
8 | g.11758436G>C | CA459314459 | GATA4 | c.1290G>C (p.Leu430=) c.1293G>C (p.Leu431=) n.735G>C c.672G>C (p.Leu224=) c.1287G>C (p.Leu429=) c.546G>C (p.Leu182=) | |
8 | g.11758436G>T | CA459314460 | GATA4 | c.1290G>T (p.Leu430=) c.1293G>T (p.Leu431=) n.735G>T c.672G>T (p.Leu224=) c.1287G>T (p.Leu429=) c.546G>T (p.Leu182=) | |
8 | g.11758437G>A | CA370315821 | GATA4 | c.1291G>A (p.Val431Ile) c.1294G>A (p.Val432Ile) n.736G>A c.673G>A (p.Val225Ile) c.1288G>A (p.Val430Ile) c.547G>A (p.Val183Ile) | |
8 | g.11758437G>C | CA4630904 | GATA4 | c.1291G>C (p.Val431Leu) c.1294G>C (p.Val432Leu) n.736G>C c.673G>C (p.Val225Leu) c.1288G>C (p.Val430Leu) c.547G>C (p.Val183Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758437G= | CA1764074340 | GATA4 | c.1291G= (p.Val431=) c.1294G= (p.Val432=) n.736G= c.673G= (p.Val225=) c.1288G= (p.Val430=) c.547G= (p.Val183=) | |
8 | g.11758437G>T | CA370315822 | GATA4 | c.1291G>T (p.Val431Phe) c.1294G>T (p.Val432Phe) n.736G>T c.673G>T (p.Val225Phe) c.1288G>T (p.Val430Phe) c.547G>T (p.Val183Phe) | |
8 | g.11758438T>A | CA370315823 | GATA4 | c.1292T>A (p.Val431Asp) c.1295T>A (p.Val432Asp) n.737T>A c.674T>A (p.Val225Asp) c.1289T>A (p.Val430Asp) c.548T>A (p.Val183Asp) | |
8 | g.11758438T>C | CA370315824 | GATA4 | c.1292T>C (p.Val431Ala) c.1295T>C (p.Val432Ala) n.737T>C c.674T>C (p.Val225Ala) c.1289T>C (p.Val430Ala) c.548T>C (p.Val183Ala) | |
8 | g.11758438T>G | CA4630905 | GATA4 | c.1292T>G (p.Val431Gly) c.1295T>G (p.Val432Gly) n.737T>G c.674T>G (p.Val225Gly) c.1289T>G (p.Val430Gly) c.548T>G (p.Val183Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758438T= | CA1764074343 | GATA4 | c.1292T= (p.Val431=) c.1295T= (p.Val432=) n.737T= c.674T= (p.Val225=) c.1289T= (p.Val430=) c.548T= (p.Val183=) | |
8 | g.11758439C>A | CA459314476 | GATA4 | c.1293C>A (p.Val431=) c.1296C>A (p.Val432=) n.738C>A c.675C>A (p.Val225=) c.1290C>A (p.Val430=) c.549C>A (p.Val183=) | COSMIC |
8 | g.11758439C= | CA1764074348 | GATA4 | c.1293C= (p.Val431=) c.1296C= (p.Val432=) n.738C= c.675C= (p.Val225=) c.1290C= (p.Val430=) c.549C= (p.Val183=) | |
8 | g.11758439C>G | CA4630906 | GATA4 | c.1293C>G (p.Val431=) c.1296C>G (p.Val432=) n.738C>G c.675C>G (p.Val225=) c.1290C>G (p.Val430=) c.549C>G (p.Val183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758439C>T | CA4630907 | GATA4 | c.1293C>T (p.Val431=) c.1296C>T (p.Val432=) n.738C>T c.675C>T (p.Val225=) c.1290C>T (p.Val430=) c.549C>T (p.Val183=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
8 | g.11758440T>A | CA370315825 | GATA4 | c.1294T>A (p.Leu432Met) c.1297T>A (p.Leu433Met) n.739T>A c.676T>A (p.Leu226Met) c.1291T>A (p.Leu431Met) c.550T>A (p.Leu184Met) | |
8 | g.11758440T>C | CA459314484 | GATA4 | c.1294T>C (p.Leu432=) c.1297T>C (p.Leu433=) n.739T>C c.676T>C (p.Leu226=) c.1291T>C (p.Leu431=) c.550T>C (p.Leu184=) | dbSNP |
8 | g.11758440T>G | CA370315826 | GATA4 | c.1294T>G (p.Leu432Val) c.1297T>G (p.Leu433Val) n.739T>G c.676T>G (p.Leu226Val) c.1291T>G (p.Leu431Val) c.550T>G (p.Leu184Val) | |
8 | g.11758440T= | CA1764074349 | GATA4 | c.1294T= (p.Leu432=) c.1297T= (p.Leu433=) n.739T= c.676T= (p.Leu226=) c.1291T= (p.Leu431=) c.550T= (p.Leu184=) | |
8 | g.11758441T>A | CA370315827 | GATA4 | c.1295T>A (p.Leu432Ter) c.1298T>A (p.Leu433Ter) n.740T>A c.677T>A (p.Leu226Ter) c.1292T>A (p.Leu431Ter) c.551T>A (p.Leu184Ter) | |
8 | g.11758441T>C | CA370315828 | GATA4 | c.1295T>C (p.Leu432Ser) c.1298T>C (p.Leu433Ser) n.740T>C c.677T>C (p.Leu226Ser) c.1292T>C (p.Leu431Ser) c.551T>C (p.Leu184Ser) | |
8 | g.11758441T>G | CA370315829 | GATA4 | c.1295T>G (p.Leu432Trp) c.1298T>G (p.Leu433Trp) n.740T>G c.677T>G (p.Leu226Trp) c.1292T>G (p.Leu431Trp) c.551T>G (p.Leu184Trp) | |
8 | g.11758442G>A | CA459314495 | GATA4 | c.1296G>A (p.Leu432=) c.1299G>A (p.Leu433=) n.741G>A c.678G>A (p.Leu226=) c.1293G>A (p.Leu431=) c.552G>A (p.Leu184=) | |
8 | g.11758442G>C | CA370315831 | GATA4 | c.1296G>C (p.Leu432Phe) c.1299G>C (p.Leu433Phe) n.741G>C c.678G>C (p.Leu226Phe) c.1293G>C (p.Leu431Phe) c.552G>C (p.Leu184Phe) | |
8 | g.11758442G>T | CA370315830 | GATA4 | c.1296G>T (p.Leu432Phe) c.1299G>T (p.Leu433Phe) n.741G>T c.678G>T (p.Leu226Phe) c.1293G>T (p.Leu431Phe) c.552G>T (p.Leu184Phe) | |
8 | g.11758443G>A | CA370315832 | GATA4 | c.1297G>A (p.Ala433Thr) c.1300G>A (p.Ala434Thr) n.742G>A c.679G>A (p.Ala227Thr) c.1294G>A (p.Ala432Thr) c.553G>A (p.Ala185Thr) | gnomAD v4 |
8 | g.11758443G>C | CA370315833 | GATA4 | c.1297G>C (p.Ala433Pro) c.1300G>C (p.Ala434Pro) n.742G>C c.679G>C (p.Ala227Pro) c.1294G>C (p.Ala432Pro) c.553G>C (p.Ala185Pro) | |
8 | g.11758443G>T | CA370315834 | GATA4 | c.1297G>T (p.Ala433Ser) c.1300G>T (p.Ala434Ser) n.742G>T c.679G>T (p.Ala227Ser) c.1294G>T (p.Ala432Ser) c.553G>T (p.Ala185Ser) | |
8 | g.11758444C>A | CA370315835 | GATA4 | c.1298C>A (p.Ala433Asp) c.1301C>A (p.Ala434Asp) n.743C>A c.680C>A (p.Ala227Asp) c.1295C>A (p.Ala432Asp) c.554C>A (p.Ala185Asp) | |
8 | g.11758444C= | CA1764074353 | GATA4 | c.1298C= (p.Ala433=) c.1301C= (p.Ala434=) n.743C= c.680C= (p.Ala227=) c.1295C= (p.Ala432=) c.554C= (p.Ala185=) | |
8 | g.11758444C>G | CA370315836 | GATA4 | c.1298C>G (p.Ala433Gly) c.1301C>G (p.Ala434Gly) n.743C>G c.680C>G (p.Ala227Gly) c.1295C>G (p.Ala432Gly) c.554C>G (p.Ala185Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.11758444C>T | CA370315837 | GATA4 | c.1298C>T (p.Ala433Val) c.1301C>T (p.Ala434Val) n.743C>T c.680C>T (p.Ala227Val) c.1295C>T (p.Ala432Val) c.554C>T (p.Ala185Val) | |
8 | g.11758445C>A | CA459314505 | GATA4 | c.1299C>A (p.Ala433=) c.1302C>A (p.Ala434=) n.744C>A c.681C>A (p.Ala227=) c.1296C>A (p.Ala432=) c.555C>A (p.Ala185=) | |
8 | g.11758445C= | CA1764074356 | GATA4 | c.1299C= (p.Ala433=) c.1302C= (p.Ala434=) n.744C= c.681C= (p.Ala227=) c.1296C= (p.Ala432=) c.555C= (p.Ala185=) | |
8 | g.11758445C>G | CA459314506 | GATA4 | c.1299C>G (p.Ala433=) c.1302C>G (p.Ala434=) n.744C>G c.681C>G (p.Ala227=) c.1296C>G (p.Ala432=) c.555C>G (p.Ala185=) | |
8 | g.11758445C>T | CA459314508 | GATA4 | c.1299C>T (p.Ala433=) c.1302C>T (p.Ala434=) n.744C>T c.681C>T (p.Ala227=) c.1296C>T (p.Ala432=) c.555C>T (p.Ala185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.11758446G>A | CA4630908 | GATA4 | c.1300G>A (p.Asp434Asn) c.1303G>A (p.Asp435Asn) n.745G>A c.682G>A (p.Asp228Asn) c.1297G>A (p.Asp433Asn) c.556G>A (p.Asp186Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758446G>C | CA370315838 | GATA4 | c.1300G>C (p.Asp434His) c.1303G>C (p.Asp435His) n.745G>C c.682G>C (p.Asp228His) c.1297G>C (p.Asp433His) c.556G>C (p.Asp186His) | |
8 | g.11758446G= | CA1764074360 | GATA4 | c.1300G= (p.Asp434=) c.1303G= (p.Asp435=) n.745G= c.682G= (p.Asp228=) c.1297G= (p.Asp433=) c.556G= (p.Asp186=) | |
8 | g.11758446G>T | CA370315839 | GATA4 | c.1300G>T (p.Asp434Tyr) c.1303G>T (p.Asp435Tyr) n.745G>T c.682G>T (p.Asp228Tyr) c.1297G>T (p.Asp433Tyr) c.556G>T (p.Asp186Tyr) | dbSNP |
8 | g.11758447A>C | CA370315840 | GATA4 | c.1301A>C (p.Asp434Ala) c.1304A>C (p.Asp435Ala) n.746A>C c.683A>C (p.Asp228Ala) c.1298A>C (p.Asp433Ala) c.557A>C (p.Asp186Ala) | |
8 | g.11758447A>G | CA370315841 | GATA4 | c.1301A>G (p.Asp434Gly) c.1304A>G (p.Asp435Gly) n.746A>G c.683A>G (p.Asp228Gly) c.1298A>G (p.Asp433Gly) c.557A>G (p.Asp186Gly) | |
8 | g.11758447A>T | CA370315842 | GATA4 | c.1301A>T (p.Asp434Val) c.1304A>T (p.Asp435Val) n.746A>T c.683A>T (p.Asp228Val) c.1298A>T (p.Asp433Val) c.557A>T (p.Asp186Val) | |
8 | g.11758448C>A | CA370315843 | GATA4 | c.1302C>A (p.Asp434Glu) c.1305C>A (p.Asp435Glu) n.747C>A c.684C>A (p.Asp228Glu) c.1299C>A (p.Asp433Glu) c.558C>A (p.Asp186Glu) | gnomAD v4 |
8 | g.11758448C>G | CA370315844 | GATA4 | c.1302C>G (p.Asp434Glu) c.1305C>G (p.Asp435Glu) n.747C>G c.684C>G (p.Asp228Glu) c.1299C>G (p.Asp433Glu) c.558C>G (p.Asp186Glu) | |
8 | g.11758448C>T | CA459314519 | GATA4 | c.1302C>T (p.Asp434=) c.1305C>T (p.Asp435=) n.747C>T c.684C>T (p.Asp228=) c.1299C>T (p.Asp433=) c.558C>T (p.Asp186=) | gnomAD v4 |
8 | g.11758449A= | CA1764074363 | GATA4 | c.1303A= (p.Ser435=) c.1306A= (p.Ser436=) n.748A= c.685A= (p.Ser229=) c.1300A= (p.Ser434=) c.559A= (p.Ser187=) | |
8 | g.11758449A>C | CA172121538 | GATA4 | c.1303A>C (p.Ser435Arg) c.1306A>C (p.Ser436Arg) n.748A>C c.685A>C (p.Ser229Arg) c.1300A>C (p.Ser434Arg) c.559A>C (p.Ser187Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758449A>G | CA370315846 | GATA4 | c.1303A>G (p.Ser435Gly) c.1306A>G (p.Ser436Gly) n.748A>G c.685A>G (p.Ser229Gly) c.1300A>G (p.Ser434Gly) c.559A>G (p.Ser187Gly) | dbSNP |
8 | g.11758449A>T | CA370315845 | GATA4 | c.1303A>T (p.Ser435Cys) c.1306A>T (p.Ser436Cys) n.748A>T c.685A>T (p.Ser229Cys) c.1300A>T (p.Ser434Cys) c.559A>T (p.Ser187Cys) | |
8 | g.11758450G>A | CA370315847 | GATA4 | c.1304G>A (p.Ser435Asn) c.1307G>A (p.Ser436Asn) n.749G>A c.686G>A (p.Ser229Asn) c.1301G>A (p.Ser434Asn) c.560G>A (p.Ser187Asn) | |
8 | g.11758450G>C | CA370315848 | GATA4 | c.1304G>C (p.Ser435Thr) c.1307G>C (p.Ser436Thr) n.749G>C c.686G>C (p.Ser229Thr) c.1301G>C (p.Ser434Thr) c.560G>C (p.Ser187Thr) | |
8 | g.11758450G>T | CA370315849 | GATA4 | c.1304G>T (p.Ser435Ile) c.1307G>T (p.Ser436Ile) n.749G>T c.686G>T (p.Ser229Ile) c.1301G>T (p.Ser434Ile) c.560G>T (p.Ser187Ile) | |
8 | g.11758451T>A | CA4630909 | GATA4 | c.1305T>A (p.Ser435Arg) c.1308T>A (p.Ser436Arg) n.750T>A c.687T>A (p.Ser229Arg) c.1302T>A (p.Ser434Arg) c.561T>A (p.Ser187Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758451T>C | CA459314528 | GATA4 | c.1305T>C (p.Ser435=) c.1308T>C (p.Ser436=) n.750T>C c.687T>C (p.Ser229=) c.1302T>C (p.Ser434=) c.561T>C (p.Ser187=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758451T>G | CA370315850 | GATA4 | c.1305T>G (p.Ser435Arg) c.1308T>G (p.Ser436Arg) n.750T>G c.687T>G (p.Ser229Arg) c.1302T>G (p.Ser434Arg) c.561T>G (p.Ser187Arg) | |
8 | g.11758451T= | CA1764074367 | GATA4 | c.1305T= (p.Ser435=) c.1308T= (p.Ser436=) n.750T= c.687T= (p.Ser229=) c.1302T= (p.Ser434=) c.561T= (p.Ser187=) | |
8 | g.11758452C>A | CA370315853 | GATA4 | c.1306C>A (p.His436Asn) c.1309C>A (p.His437Asn) n.751C>A c.688C>A (p.His230Asn) c.1303C>A (p.His435Asn) c.562C>A (p.His188Asn) | |
8 | g.11758452C>G | CA370315852 | GATA4 | c.1306C>G (p.His436Asp) c.1309C>G (p.His437Asp) n.751C>G c.688C>G (p.His230Asp) c.1303C>G (p.His435Asp) c.562C>G (p.His188Asp) | gnomAD v4 |
8 | g.11758452C>T | CA370315851 | GATA4 | c.1306C>T (p.His436Tyr) c.1309C>T (p.His437Tyr) n.751C>T c.688C>T (p.His230Tyr) c.1303C>T (p.His435Tyr) c.562C>T (p.His188Tyr) | |
8 | g.11758453A>C | CA370315854 | GATA4 | c.1307A>C (p.His436Pro) c.1310A>C (p.His437Pro) n.752A>C c.689A>C (p.His230Pro) c.1304A>C (p.His435Pro) c.563A>C (p.His188Pro) | |
8 | g.11758453A>G | CA370315855 | GATA4 | c.1307A>G (p.His436Arg) c.1310A>G (p.His437Arg) n.752A>G c.689A>G (p.His230Arg) c.1304A>G (p.His435Arg) c.563A>G (p.His188Arg) | |
8 | g.11758453A>T | CA370315856 | GATA4 | c.1307A>T (p.His436Leu) c.1310A>T (p.His437Leu) n.752A>T c.689A>T (p.His230Leu) c.1304A>T (p.His435Leu) c.563A>T (p.His188Leu) | |
8 | g.11758454C>A | CA370315857 | GATA4 | c.1308C>A (p.His436Gln) c.1311C>A (p.His437Gln) n.753C>A c.690C>A (p.His230Gln) c.1305C>A (p.His435Gln) c.564C>A (p.His188Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758454C= | CA1764074373 | GATA4 | c.1308C= (p.His436=) c.1311C= (p.His437=) n.753C= c.690C= (p.His230=) c.1305C= (p.His435=) c.564C= (p.His188=) | |
8 | g.11758454C>G | CA370315858 | GATA4 | c.1308C>G (p.His436Gln) c.1311C>G (p.His437Gln) n.753C>G c.690C>G (p.His230Gln) c.1305C>G (p.His435Gln) c.564C>G (p.His188Gln) | ClinVar dbSNP |
8 | g.11758454C>T | CA4630910 | GATA4 | c.1308C>T (p.His436=) c.1311C>T (p.His437=) n.753C>T c.690C>T (p.His230=) c.1305C>T (p.His435=) c.564C>T (p.His188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758455G>A | CA370315860 | GATA4 | c.1309G>A (p.Gly437Arg) c.1312G>A (p.Gly438Arg) n.754G>A c.691G>A (p.Gly231Arg) c.1306G>A (p.Gly436Arg) c.565G>A (p.Gly189Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758455G>C | CA370315859 | GATA4 | c.1309G>C (p.Gly437Arg) c.1312G>C (p.Gly438Arg) n.754G>C c.691G>C (p.Gly231Arg) c.1306G>C (p.Gly436Arg) c.565G>C (p.Gly189Arg) | |
8 | g.11758455G= | CA1764074377 | GATA4 | c.1309G= (p.Gly437=) c.1312G= (p.Gly438=) n.754G= c.691G= (p.Gly231=) c.1306G= (p.Gly436=) c.565G= (p.Gly189=) | |
8 | g.11758455G>T | CA4630911 | GATA4 | c.1309G>T (p.Gly437Trp) c.1312G>T (p.Gly438Trp) n.754G>T c.691G>T (p.Gly231Trp) c.1306G>T (p.Gly436Trp) c.565G>T (p.Gly189Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758456G>A | CA370315861 | GATA4 | c.1310G>A (p.Gly437Glu) c.1313G>A (p.Gly438Glu) n.755G>A c.692G>A (p.Gly231Glu) c.1307G>A (p.Gly436Glu) c.566G>A (p.Gly189Glu) | |
8 | g.11758456G>C | CA370315862 | GATA4 | c.1310G>C (p.Gly437Ala) c.1313G>C (p.Gly438Ala) n.755G>C c.692G>C (p.Gly231Ala) c.1307G>C (p.Gly436Ala) c.566G>C (p.Gly189Ala) | |
8 | g.11758456G>T | CA370315863 | GATA4 | c.1310G>T (p.Gly437Val) c.1313G>T (p.Gly438Val) n.755G>T c.692G>T (p.Gly231Val) c.1307G>T (p.Gly436Val) c.566G>T (p.Gly189Val) | |
8 | g.11758457G>A | CA459314550 | GATA4 | c.1311G>A (p.Gly437=) c.1314G>A (p.Gly438=) n.756G>A c.693G>A (p.Gly231=) c.1308G>A (p.Gly436=) c.567G>A (p.Gly189=) | ClinVar gnomAD v4 |
8 | g.11758457G>C | CA459314551 | GATA4 | c.1311G>C (p.Gly437=) c.1314G>C (p.Gly438=) n.756G>C c.693G>C (p.Gly231=) c.1308G>C (p.Gly436=) c.567G>C (p.Gly189=) | |
8 | g.11758457G>T | CA459314553 | GATA4 | c.1311G>T (p.Gly437=) c.1314G>T (p.Gly438=) n.756G>T c.693G>T (p.Gly231=) c.1308G>T (p.Gly436=) c.567G>T (p.Gly189=) | gnomAD v4 |
8 | g.11758458G>A | CA16618586 | GATA4 | c.1312G>A (p.Asp438Asn) c.1315G>A (p.Asp439Asn) n.757G>A c.694G>A (p.Asp232Asn) c.1309G>A (p.Asp437Asn) c.568G>A (p.Asp190Asn) | ClinVar dbSNP COSMIC |
8 | g.11758458G>C | CA370315864 | GATA4 | c.1312G>C (p.Asp438His) c.1315G>C (p.Asp439His) n.757G>C c.694G>C (p.Asp232His) c.1309G>C (p.Asp437His) c.568G>C (p.Asp190His) | ClinVar dbSNP |
8 | g.11758458G= | CA1764074387 | GATA4 | c.1312G= (p.Asp438=) c.1315G= (p.Asp439=) n.757G= c.694G= (p.Asp232=) c.1309G= (p.Asp437=) c.568G= (p.Asp190=) | |
8 | g.11758458G>T | CA172121549 | GATA4 | c.1312G>T (p.Asp438Tyr) c.1315G>T (p.Asp439Tyr) n.757G>T c.694G>T (p.Asp232Tyr) c.1309G>T (p.Asp437Tyr) c.568G>T (p.Asp190Tyr) | dbSNP gnomAD v4 |
8 | g.11758459A>C | CA370315867 | GATA4 | c.1313A>C (p.Asp438Ala) c.1316A>C (p.Asp439Ala) n.758A>C c.695A>C (p.Asp232Ala) c.1310A>C (p.Asp437Ala) c.569A>C (p.Asp190Ala) | |
8 | g.11758459A>G | CA370315865 | GATA4 | c.1313A>G (p.Asp438Gly) c.1316A>G (p.Asp439Gly) n.758A>G c.695A>G (p.Asp232Gly) c.1310A>G (p.Asp437Gly) c.569A>G (p.Asp190Gly) | |
8 | g.11758459A>T | CA370315866 | GATA4 | c.1313A>T (p.Asp438Val) c.1316A>T (p.Asp439Val) n.758A>T c.695A>T (p.Asp232Val) c.1310A>T (p.Asp437Val) c.569A>T (p.Asp190Val) | |
8 | g.11758460C>A | CA370315868 | GATA4 | c.1314C>A (p.Asp438Glu) c.1317C>A (p.Asp439Glu) n.759C>A c.696C>A (p.Asp232Glu) c.1311C>A (p.Asp437Glu) c.570C>A (p.Asp190Glu) | |
8 | g.11758460C= | CA1764074391 | GATA4 | c.1314C= (p.Asp438=) c.1317C= (p.Asp439=) n.759C= c.696C= (p.Asp232=) c.1311C= (p.Asp437=) c.570C= (p.Asp190=) | |
8 | g.11758460C>G | CA370315869 | GATA4 | c.1314C>G (p.Asp438Glu) c.1317C>G (p.Asp439Glu) n.759C>G c.696C>G (p.Asp232Glu) c.1311C>G (p.Asp437Glu) c.570C>G (p.Asp190Glu) | |
8 | g.11758460C>T | CA459314561 | GATA4 | c.1314C>T (p.Asp438=) c.1317C>T (p.Asp439=) n.759C>T c.696C>T (p.Asp232=) c.1311C>T (p.Asp437=) c.570C>T (p.Asp190=) | |
8 | g.11758461A= | CA1764074395 | GATA4 | c.1315A= (p.Ile439=) c.1318A= (p.Ile440=) n.760A= c.697A= (p.Ile233=) c.1312A= (p.Ile438=) c.571A= (p.Ile191=) | |
8 | g.11758461A>C | CA370315870 | GATA4 | c.1315A>C (p.Ile439Leu) c.1318A>C (p.Ile440Leu) n.760A>C c.697A>C (p.Ile233Leu) c.1312A>C (p.Ile438Leu) c.571A>C (p.Ile191Leu) | |
8 | g.11758461A>G | CA4630912 | GATA4 | c.1315A>G (p.Ile439Val) c.1318A>G (p.Ile440Val) n.760A>G c.697A>G (p.Ile233Val) c.1312A>G (p.Ile438Val) c.571A>G (p.Ile191Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758461A>T | CA370315871 | GATA4 | c.1315A>T (p.Ile439Leu) c.1318A>T (p.Ile440Leu) n.760A>T c.697A>T (p.Ile233Leu) c.1312A>T (p.Ile438Leu) c.571A>T (p.Ile191Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.11758462_11758463dup | CA1110747662 | GATA4 | c.1316_1317dup (p.Ile440Ter) c.1319_1320dup (p.Ile441Ter) n.761_762dup c.698_699dup (p.Ile234Ter) c.1313_1314dup (p.Ile439Ter) c.572_573dup (p.Ile192Ter) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758462T>A | CA370315872 | GATA4 | c.1316T>A (p.Ile439Lys) c.1319T>A (p.Ile440Lys) n.761T>A c.698T>A (p.Ile233Lys) c.1313T>A (p.Ile438Lys) c.572T>A (p.Ile191Lys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758462T>C | CA172121557 | GATA4 | c.1316T>C (p.Ile439Thr) c.1319T>C (p.Ile440Thr) n.761T>C c.698T>C (p.Ile233Thr) c.1313T>C (p.Ile438Thr) c.572T>C (p.Ile191Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11758462T>G | CA370315873 | GATA4 | c.1316T>G (p.Ile439Arg) c.1319T>G (p.Ile440Arg) n.761T>G c.698T>G (p.Ile233Arg) c.1313T>G (p.Ile438Arg) c.572T>G (p.Ile191Arg) | |
8 | g.11758462T= | CA1764074399 | GATA4 | c.1316T= (p.Ile439=) c.1319T= (p.Ile440=) n.761T= c.698T= (p.Ile233=) c.1313T= (p.Ile438=) c.572T= (p.Ile191=) | |
8 | g.11758463A>C | CA459314570 | GATA4 | c.1317A>C (p.Ile439=) c.1320A>C (p.Ile440=) n.762A>C c.699A>C (p.Ile233=) c.1314A>C (p.Ile438=) c.573A>C (p.Ile191=) | |
8 | g.11758463A>G | CA370315874 | GATA4 | c.1317A>G (p.Ile439Met) c.1320A>G (p.Ile440Met) n.762A>G c.699A>G (p.Ile233Met) c.1314A>G (p.Ile438Met) c.573A>G (p.Ile191Met) | |
8 | g.11758463A>T | CA459314572 | GATA4 | c.1317A>T (p.Ile439=) c.1320A>T (p.Ile440=) n.762A>T c.699A>T (p.Ile233=) c.1314A>T (p.Ile438=) c.573A>T (p.Ile191=) | |
8 | g.11758464A>C | CA370315875 | GATA4 | c.1318A>C (p.Ile440Leu) c.1321A>C (p.Ile441Leu) n.763A>C c.700A>C (p.Ile234Leu) c.1315A>C (p.Ile439Leu) c.574A>C (p.Ile192Leu) | |
8 | g.11758464A>G | CA370315876 | GATA4 | c.1318A>G (p.Ile440Val) c.1321A>G (p.Ile441Val) n.763A>G c.700A>G (p.Ile234Val) c.1315A>G (p.Ile439Val) c.574A>G (p.Ile192Val) | ClinVar dbSNP |
8 | g.11758464A>T | CA370315877 | GATA4 | c.1318A>T (p.Ile440Phe) c.1321A>T (p.Ile441Phe) n.763A>T c.700A>T (p.Ile234Phe) c.1315A>T (p.Ile439Phe) c.574A>T (p.Ile192Phe) | |
8 | g.11758465T>A | CA370315878 | GATA4 | c.1319T>A (p.Ile440Asn) c.1322T>A (p.Ile441Asn) n.764T>A c.701T>A (p.Ile234Asn) c.1316T>A (p.Ile439Asn) c.575T>A (p.Ile192Asn) | gnomAD v4 |
8 | g.11758465T>C | CA370315879 | GATA4 | c.1319T>C (p.Ile440Thr) c.1322T>C (p.Ile441Thr) n.764T>C c.701T>C (p.Ile234Thr) c.1316T>C (p.Ile439Thr) c.575T>C (p.Ile192Thr) | |
8 | g.11758465T>G | CA370315880 | GATA4 | c.1319T>G (p.Ile440Ser) c.1322T>G (p.Ile441Ser) n.764T>G c.701T>G (p.Ile234Ser) c.1316T>G (p.Ile439Ser) c.575T>G (p.Ile192Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758466C>A | CA459314580 | GATA4 | c.1320C>A (p.Ile440=) c.1323C>A (p.Ile441=) n.765C>A c.702C>A (p.Ile234=) c.1317C>A (p.Ile439=) c.576C>A (p.Ile192=) | gnomAD v4 |
8 | g.11758466C= | CA1764074401 | GATA4 | c.1320C= (p.Ile440=) c.1323C= (p.Ile441=) n.765C= c.702C= (p.Ile234=) c.1317C= (p.Ile439=) c.576C= (p.Ile192=) | |
8 | g.11758466C>G | CA370315881 | GATA4 | c.1320C>G (p.Ile440Met) c.1323C>G (p.Ile441Met) n.765C>G c.702C>G (p.Ile234Met) c.1317C>G (p.Ile439Met) c.576C>G (p.Ile192Met) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11758466C>T | CA459314581 | GATA4 | c.1320C>T (p.Ile440=) c.1323C>T (p.Ile441=) n.765C>T c.702C>T (p.Ile234=) c.1317C>T (p.Ile439=) c.576C>T (p.Ile192=) | gnomAD v4 |
8 | g.11758467A>C | CA370315882 | GATA4 | c.1321A>C (p.Thr441Pro) c.1324A>C (p.Thr442Pro) n.766A>C c.703A>C (p.Thr235Pro) c.1318A>C (p.Thr440Pro) c.577A>C (p.Thr193Pro) | |
8 | g.11758467A>G | CA370315883 | GATA4 | c.1321A>G (p.Thr441Ala) c.1324A>G (p.Thr442Ala) n.766A>G c.703A>G (p.Thr235Ala) c.1318A>G (p.Thr440Ala) c.577A>G (p.Thr193Ala) | |
8 | g.11758467A>T | CA370315884 | GATA4 | c.1321A>T (p.Thr441Ser) c.1324A>T (p.Thr442Ser) n.766A>T c.703A>T (p.Thr235Ser) c.1318A>T (p.Thr440Ser) c.577A>T (p.Thr193Ser) | |
8 | g.11758468C>A | CA370315885 | GATA4 | c.1322C>A (p.Thr441Asn) c.1325C>A (p.Thr442Asn) n.767C>A c.704C>A (p.Thr235Asn) c.1319C>A (p.Thr440Asn) c.578C>A (p.Thr193Asn) | |
8 | g.11758468C= | CA1764074406 | GATA4 | c.1322C= (p.Thr441=) c.1325C= (p.Thr442=) n.767C= c.704C= (p.Thr235=) c.1319C= (p.Thr440=) c.578C= (p.Thr193=) | |
8 | g.11758468C>G | CA4630913 | GATA4 | c.1322C>G (p.Thr441Ser) c.1325C>G (p.Thr442Ser) n.767C>G c.704C>G (p.Thr235Ser) c.1319C>G (p.Thr440Ser) c.578C>G (p.Thr193Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758468C>T | CA370315886 | GATA4 | c.1322C>T (p.Thr441Ile) c.1325C>T (p.Thr442Ile) n.767C>T c.704C>T (p.Thr235Ile) c.1319C>T (p.Thr440Ile) c.578C>T (p.Thr193Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758469T>A | CA459314591 | GATA4 | c.1323T>A (p.Thr441=) c.1326T>A (p.Thr442=) n.768T>A c.705T>A (p.Thr235=) c.1320T>A (p.Thr440=) c.579T>A (p.Thr193=) | |
8 | g.11758469T>C | CA172121563 | GATA4 | c.1323T>C (p.Thr441=) c.1326T>C (p.Thr442=) n.768T>C c.705T>C (p.Thr235=) c.1320T>C (p.Thr440=) c.579T>C (p.Thr193=) | dbSNP |
8 | g.11758469T>G | CA459314595 | GATA4 | c.1323T>G (p.Thr441=) c.1326T>G (p.Thr442=) n.768T>G c.705T>G (p.Thr235=) c.1320T>G (p.Thr440=) c.579T>G (p.Thr193=) | |
8 | g.11758469T= | CA1764074409 | GATA4 | c.1323T= (p.Thr441=) c.1326T= (p.Thr442=) n.768T= c.705T= (p.Thr235=) c.1320T= (p.Thr440=) c.579T= (p.Thr193=) | |
8 | g.11758470G>A | CA370315887 | GATA4 | c.1324G>A (p.Ala442Thr) c.1327G>A (p.Ala443Thr) n.769G>A c.706G>A (p.Ala236Thr) c.1321G>A (p.Ala441Thr) c.580G>A (p.Ala194Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758470G>C | CA370315888 | GATA4 | c.1324G>C (p.Ala442Pro) c.1327G>C (p.Ala443Pro) n.769G>C c.706G>C (p.Ala236Pro) c.1321G>C (p.Ala441Pro) c.580G>C (p.Ala194Pro) | |
8 | g.11758470G= | CA1764074413 | GATA4 | c.1324G= (p.Ala442=) c.1327G= (p.Ala443=) n.769G= c.706G= (p.Ala236=) c.1321G= (p.Ala441=) c.580G= (p.Ala194=) | |
8 | g.11758470G>T | CA370315889 | GATA4 | c.1324G>T (p.Ala442Ser) c.1327G>T (p.Ala443Ser) n.769G>T c.706G>T (p.Ala236Ser) c.1321G>T (p.Ala441Ser) c.580G>T (p.Ala194Ser) | |
8 | g.11758471C>A | CA370315890 | GATA4 | c.1325C>A (p.Ala442Glu) c.1328C>A (p.Ala443Glu) n.770C>A c.707C>A (p.Ala236Glu) c.1322C>A (p.Ala441Glu) c.581C>A (p.Ala194Glu) | |
8 | g.11758471C= | CA1764074420 | GATA4 | c.1325C= (p.Ala442=) c.1328C= (p.Ala443=) n.770C= c.707C= (p.Ala236=) c.1322C= (p.Ala441=) c.581C= (p.Ala194=) | |
8 | g.11758471C>G | CA4630914 | GATA4 | c.1325C>G (p.Ala442Gly) c.1328C>G (p.Ala443Gly) n.770C>G c.707C>G (p.Ala236Gly) c.1322C>G (p.Ala441Gly) c.581C>G (p.Ala194Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758471C>T | CA212672 | GATA4 | c.1325C>T (p.Ala442Val) c.1328C>T (p.Ala443Val) n.770C>T c.707C>T (p.Ala236Val) c.1322C>T (p.Ala441Val) c.581C>T (p.Ala194Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758472G>A | CA4630915 | GATA4 | c.1326G>A (p.Ala442=) c.1329G>A (p.Ala443=) n.771G>A c.708G>A (p.Ala236=) c.1323G>A (p.Ala441=) c.582G>A (p.Ala194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.11758472G>C | CA459314605 | GATA4 | c.1326G>C (p.Ala442=) c.1329G>C (p.Ala443=) n.771G>C c.708G>C (p.Ala236=) c.1323G>C (p.Ala441=) c.582G>C (p.Ala194=) | |
8 | g.11758472G= | CA1764074428 | GATA4 | c.1326G= (p.Ala442=) c.1329G= (p.Ala443=) n.771G= c.708G= (p.Ala236=) c.1323G= (p.Ala441=) c.582G= (p.Ala194=) | |
8 | g.11758472G>T | CA459314606 | GATA4 | c.1326G>T (p.Ala442=) c.1329G>T (p.Ala443=) n.771G>T c.708G>T (p.Ala236=) c.1323G>T (p.Ala441=) c.582G>T (p.Ala194=) | gnomAD v4 COSMIC |
8 | g.11758473T>A | CA370315891 | GATA4 | c.1327T>A (p.Ter443Lys) c.1330T>A (p.Ter444Lys) n.772T>A c.709T>A (p.Ter237Lys) c.1324T>A (p.Ter442Lys) c.583T>A (p.Ter195Lys) | |
8 | g.11758473T>C | CA370315892 | GATA4 | c.1327T>C (p.Ter443Gln) c.1330T>C (p.Ter444Gln) n.772T>C c.709T>C (p.Ter237Gln) c.1324T>C (p.Ter442Gln) c.583T>C (p.Ter195Gln) | |
8 | g.11758473T>G | CA370315893 | GATA4 | c.1327T>G (p.Ter443Glu) c.1330T>G (p.Ter444Glu) n.772T>G c.709T>G (p.Ter237Glu) c.1324T>G (p.Ter442Glu) c.583T>G (p.Ter195Glu) | |
8 | g.11758474A>C | CA370315894 | GATA4 | c.1328A>C (p.Ter443Ser) c.1331A>C (p.Ter444Ser) n.773A>C c.710A>C (p.Ter237Ser) c.1325A>C (p.Ter442Ser) c.584A>C (p.Ter195Ser) | |
8 | g.11758474A>G | CA459314613 | GATA4 | c.1328A>G (p.Ter443=) c.1331A>G (p.Ter444=) n.773A>G c.710A>G (p.Ter237=) c.1325A>G (p.Ter442=) c.584A>G (p.Ter195=) | |
8 | g.11758474A>T | CA370315895 | GATA4 | c.1328A>T (p.Ter443Leu) c.1331A>T (p.Ter444Leu) n.773A>T c.710A>T (p.Ter237Leu) c.1325A>T (p.Ter442Leu) c.584A>T (p.Ter195Leu) | |
8 | g.11758475A= | CA1764074433 | GATA4 | c.1329A= (p.Ter443=) c.1332A= (p.Ter444=) n.774A= c.711A= (p.Ter237=) c.1326A= (p.Ter442=) c.585A= (p.Ter195=) | |
8 | g.11758475A>C | CA370315896 | GATA4 | c.1329A>C (p.Ter443Tyr) c.1332A>C (p.Ter444Tyr) n.774A>C c.711A>C (p.Ter237Tyr) c.1326A>C (p.Ter442Tyr) c.585A>C (p.Ter195Tyr) | |
8 | g.11758475A>G | CA459314618 | GATA4 | c.1329A>G (p.Ter443=) c.1332A>G (p.Ter444=) n.774A>G c.711A>G (p.Ter237=) c.1326A>G (p.Ter442=) c.585A>G (p.Ter195=) | gnomAD v4 |
8 | g.11758475A>T | CA370315897 | GATA4 | c.1329A>T (p.Ter443Tyr) c.1332A>T (p.Ter444Tyr) n.774A>T c.711A>T (p.Ter237Tyr) c.1326A>T (p.Ter442Tyr) c.585A>T (p.Ter195Tyr) | |
8 | g.11758476T>A | CA2579094231 | GATA4 | c.*1T>A (n.*1T>A) n.775T>A c.1327T>A (n.1327T>A) | |
8 | g.11758476T>C | CA846164205 | GATA4 | c.*1T>C (n.*1T>C) n.775T>C c.1327T>C (n.1327T>C) | dbSNP |
8 | g.11758476T= | CA1764074436 | GATA4 | c.*1T= (n.*1T=) n.775T= c.1327T= (n.1327T=) | |
8 | g.11758485_11758491dup | CA580031760 | GATA4 | c.*10_*16dup (n.*10_*16dup) n.784_790dup c.1336_1342dup (n.1336_1342dup) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11758477C>A | CA2579094232 | GATA4 | c.*2C>A (n.*2C>A) n.776C>A c.1328C>A (n.1328C>A) | gnomAD v4 |
8 | g.11758477C= | CA1764074437 | GATA4 | c.*2C= (n.*2C=) n.776C= c.1328C= (n.1328C=) | |
8 | g.11758477C>G | CA4630916 | GATA4 | c.*2C>G (n.*2C>G) n.776C>G c.1328C>G (n.1328C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758478T>C | CA2686137417 | GATA4 | c.*3T>C (n.*3T>C) n.777T>C c.1329T>C (n.1329T>C) | gnomAD v4 |
8 | g.11758479T>C | CA4630917 | GATA4 | c.*4T>C (n.*4T>C) n.778T>C c.1330T>C (n.1330T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758479T>G | CA4630918 | GATA4 | c.*4T>G (n.*4T>G) n.778T>G c.1330T>G (n.1330T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758479T= | CA1764074439 | GATA4 | c.*4T= (n.*4T=) n.778T= c.1330T= (n.1330T=) | |
8 | g.11758480C= | CA1764074441 | GATA4 | c.*5C= (n.*5C=) n.779C= c.1331C= (n.1331C=) | |
8 | g.11758480C>T | CA172121581 | GATA4 | c.*5C>T (n.*5C>T) n.779C>T c.1331C>T (n.1331C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758481C= | CA1764074444 | GATA4 | c.*6C= (n.*6C=) n.780C= c.1332C= (n.1332C=) | |
8 | g.11758481C>T | CA4630919 | GATA4 | c.*6C>T (n.*6C>T) n.780C>T c.1332C>T (n.1332C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758482C= | CA1764074447 | GATA4 | c.*7C= (n.*7C=) n.781C= c.1333C= (n.1333C=) | |
8 | g.11758482C>G | CA172121583 | GATA4 | c.*7C>G (n.*7C>G) n.781C>G c.1333C>G (n.1333C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758482C>T | CA1764074448 | GATA4 | c.*7C>T (n.*7C>T) n.781C>T c.1333C>T (n.1333C>T) | dbSNP gnomAD v4 |
8 | g.11758484C>A | CA4630921 | GATA4 | c.*9C>A (n.*9C>A) n.783C>A c.1335C>A (n.1335C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758484C= | CA1764074451 | GATA4 | c.*9C= (n.*9C=) n.783C= c.1335C= (n.1335C=) | |
8 | g.11758484C>G | CA172121588 | GATA4 | c.*9C>G (n.*9C>G) n.783C>G c.1335C>G (n.1335C>G) | dbSNP gnomAD v4 |
8 | g.11758484C>T | CA4630920 | GATA4 | c.*9C>T (n.*9C>T) n.783C>T c.1335C>T (n.1335C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758485T>C | CA580031761 | GATA4 | c.*10T>C (n.*10T>C) n.784T>C c.1336T>C (n.1336T>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11758485T= | CA1764074454 | GATA4 | c.*10T= (n.*10T=) n.784T= c.1336T= (n.1336T=) | |
8 | g.11758486dup | CA652201252 | GATA4 | c.*11dup (n.*11dup) n.785dup c.1337dup (n.1337dup) | |
8 | g.11758487C= | CA1764074460 | GATA4 | c.*12C= (n.*12C=) n.786C= c.1338C= (n.1338C=) | |
8 | g.11758487C>G | CA846164228 | GATA4 | c.*12C>G (n.*12C>G) n.786C>G c.1338C>G (n.1338C>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758487C>T | CA4630922 | GATA4 | c.*12C>T (n.*12C>T) n.786C>T c.1338C>T (n.1338C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758487_11758490delinsCCCT | CA1764074458 | GATA4 | c.*12_*15delinsCCCT (n.*12_*15delinsCCCT) n.786_789delinsCCCT c.1338_1341delinsCCCT (n.1338_1341delinsCCCT) | |
8 | g.11758488C>A | CA2579094233 | GATA4 | c.*13C>A (n.*13C>A) n.787C>A c.1339C>A (n.1339C>A) | |
8 | g.11758492_11758494del | CA1110747700 | GATA4 | c.*17_*19del (n.*17_*19del) n.791_793del c.1343_1345del (n.1343_1345del) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758489C>A | CA2579094234 | GATA4 | c.*14C>A (n.*14C>A) n.788C>A c.1340C>A (n.1340C>A) | |
8 | g.11758489C= | CA1764074465 | GATA4 | c.*14C= (n.*14C=) n.788C= c.1340C= (n.1340C=) | |
8 | g.11758489C>G | CA1764074466 | GATA4 | c.*14C>G (n.*14C>G) n.788C>G c.1340C>G (n.1340C>G) | dbSNP gnomAD v4 |
8 | g.11758490T>A | CA2686137429 | GATA4 | c.*15T>A (n.*15T>A) n.789T>A c.1341T>A (n.1341T>A) | gnomAD v4 |
8 | g.11758492C>A | CA2686137430 | GATA4 | c.*17C>A (n.*17C>A) n.791C>A c.1343C>A (n.1343C>A) | gnomAD v4 |
8 | g.11758492C= | CA1764074469 | GATA4 | c.*17C= (n.*17C=) n.791C= c.1343C= (n.1343C=) | |
8 | g.11758492C>T | CA580031762 | GATA4 | c.*17C>T (n.*17C>T) n.791C>T c.1343C>T (n.1343C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11758494C= | CA1764074471 | GATA4 | c.*19C= (n.*19C=) n.793C= c.1345C= (n.1345C=) | |
8 | g.11758494C>G | CA4630923 | GATA4 | c.*19C>G (n.*19C>G) n.793C>G c.1345C>G (n.1345C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758495A>T | CA2686137431 | GATA4 | c.*20A>T (n.*20A>T) n.794A>T c.1346A>T (n.1346A>T) | gnomAD v4 |
8 | g.11758496A>C | CA2686137432 | GATA4 | c.*21A>C (n.*21A>C) n.795A>C c.1347A>C (n.1347A>C) | gnomAD v4 |
8 | g.11758499T>C | CA2686137433 | GATA4 | c.*24T>C (n.*24T>C) n.798T>C c.1350T>C (n.1350T>C) | gnomAD v4 |
8 | g.11758500C>G | CA2716590670 | GATA4 | c.*25C>G (n.*25C>G) n.799C>G c.1351C>G (n.1351C>G) | dbSNP |
8 | g.11758501C= | CA1764074472 | GATA4 | c.*26C= (n.*26C=) n.800C= c.1352C= (n.1352C=) | |
8 | g.11758501C>G | CA2579094235 | GATA4 | c.*26C>G (n.*26C>G) n.800C>G c.1352C>G (n.1352C>G) | |
8 | g.11758501C>T | CA580031763 | GATA4 | c.*26C>T (n.*26C>T) n.800C>T c.1352C>T (n.1352C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11758506C= | CA1764074474 | GATA4 | c.*31C= (n.*31C=) n.805C= c.1357C= (n.1357C=) | |
8 | g.11758506C>T | CA4630924 | GATA4 | c.*31C>T (n.*31C>T) n.805C>T c.1357C>T (n.1357C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758507G>A | CA580031764 | GATA4 | c.*32G>A (n.*32G>A) n.806G>A c.1358G>A (n.1358G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758507G= | CA1764074477 | GATA4 | c.*32G= (n.*32G=) n.806G= c.1358G= (n.1358G=) | |
8 | g.11758508G>C | CA4630925 | GATA4 | c.*33G>C (n.*33G>C) n.807G>C c.1359G>C (n.1359G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758508G= | CA1764074478 | GATA4 | c.*33G= (n.*33G=) n.807G= c.1359G= (n.1359G=) | |
8 | g.11758509A= | CA1764074480 | GATA4 | c.*34A= (n.*34A=) n.808A= c.1360A= (n.1360A=) | |
8 | g.11758509A>T | CA4630926 | GATA4 | c.*34A>T (n.*34A>T) n.808A>T c.1360A>T (n.1360A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758510C>A | CA580031765 | GATA4 | c.*35C>A (n.*35C>A) n.809C>A c.1361C>A (n.1361C>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11758510C= | CA1764074482 | GATA4 | c.*35C= (n.*35C=) n.809C= c.1361C= (n.1361C=) | |
8 | g.11758510C>G | CA580031766 | GATA4 | c.*35C>G (n.*35C>G) n.809C>G c.1361C>G (n.1361C>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11758511C>A | CA2592761250 | GATA4 | c.*36C>A (n.*36C>A) n.810C>A c.1362C>A (n.1362C>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758511C= | CA1764074484 | GATA4 | c.*36C= (n.*36C=) n.810C= c.1362C= (n.1362C=) | |
8 | g.11758511C>G | CA2686137439 | GATA4 | c.*36C>G (n.*36C>G) n.810C>G c.1362C>G (n.1362C>G) | gnomAD v4 |
8 | g.11758511C>T | CA580031767 | GATA4 | c.*36C>T (n.*36C>T) n.810C>T c.1362C>T (n.1362C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758512T>A | CA2686137442 | GATA4 | c.*37T>A (n.*37T>A) n.811T>A c.1363T>A (n.1363T>A) | gnomAD v4 |
8 | g.11758513G= | CA1764074486 | GATA4 | c.*38G= (n.*38G=) n.812G= c.1364G= (n.1364G=) | |
8 | g.11758513G>T | CA172121595 | GATA4 | c.*38G>T (n.*38G>T) n.812G>T c.1364G>T (n.1364G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758514G>A | CA4630927 | GATA4 | c.*39G>A (n.*39G>A) n.813G>A c.1365G>A (n.1365G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758514G= | CA1764074487 | GATA4 | c.*39G= (n.*39G=) n.813G= c.1365G= (n.1365G=) | |
8 | g.11758515G>A | CA846164265 | GATA4 | c.*40G>A (n.*40G>A) n.814G>A c.1366G>A (n.1366G>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758515G= | CA1764074490 | GATA4 | c.*40G= (n.*40G=) n.814G= c.1366G= (n.1366G=) | |
8 | g.11758515G>T | CA2686137444 | GATA4 | c.*40G>T (n.*40G>T) n.814G>T c.1366G>T (n.1366G>T) | gnomAD v4 |
8 | g.11758517C>G | CA2686137446 | GATA4 | c.*42C>G (n.*42C>G) n.816C>G c.1368C>G (n.1368C>G) | gnomAD v4 |
8 | g.11758518T>C | CA2686137448 | GATA4 | c.*43T>C (n.*43T>C) n.817T>C c.1369T>C (n.1369T>C) | gnomAD v4 |
8 | g.11758519T>C | CA4630928 | GATA4 | c.*44T>C (n.*44T>C) n.818T>C c.1370T>C (n.1370T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758519T= | CA1764074492 | GATA4 | c.*44T= (n.*44T=) n.818T= c.1370T= (n.1370T=) | |
8 | g.11758520G>A | CA2686137452 | GATA4 | c.*45G>A (n.*45G>A) n.819G>A c.1371G>A (n.1371G>A) | gnomAD v4 |
8 | g.11758521dup | CA1110747710 | GATA4 | c.*46dup (n.*46dup) n.820dup c.1372dup (n.1372dup) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11758521G>A | CA2686137454 | GATA4 | c.*46G>A (n.*46G>A) n.820G>A c.1372G>A (n.1372G>A) | gnomAD v4 |
8 | g.11758522A>G | CA2579094236 | GATA4 | c.*47A>G (n.*47A>G) n.821A>G c.1373A>G (n.1373A>G) | |
8 | g.11758523G>A | CA2579094237 | GATA4 | c.*48G>A (n.*48G>A) n.822G>A c.1374G>A (n.1374G>A) | |
8 | g.11758524G>A | CA1764074497 | GATA4 | c.*49G>A (n.*49G>A) n.823G>A c.1375G>A (n.1375G>A) | dbSNP |
8 | g.11758524G>C | CA4630929 | GATA4 | c.*49G>C (n.*49G>C) n.823G>C c.1375G>C (n.1375G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11758524G= | CA1764074495 | GATA4 | c.*49G= (n.*49G=) n.823G= c.1375G= (n.1375G=) | |
8 | g.11758524G>T | CA2523785719 | GATA4 | c.*49G>T (n.*49G>T) n.823G>T c.1375G>T (n.1375G>T) | gnomAD v4 |
8 | g.11758525A= | CA1764074501 | GATA4 | c.*50A= (n.*50A=) n.824A= c.1376A= (n.1376A=) | |
8 | g.11758525A>T | CA4630930 | GATA4 | c.*50A>T (n.*50A>T) n.824A>T c.1376A>T (n.1376A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758526T>C | CA579789432 | GATA4 | c.*51T>C (n.*51T>C) n.825T>C c.1377T>C (n.1377T>C) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11758526T= | CA1764074503 | GATA4 | c.*51T= (n.*51T=) n.825T= c.1377T= (n.1377T=) | |
8 | g.11758527A>G | CA2686137458 | GATA4 | c.*52A>G (n.*52A>G) n.826A>G c.1378A>G (n.1378A>G) | gnomAD v4 |
8 | g.11758528G>A | CA172121616 | GATA4 | c.*53G>A (n.*53G>A) n.827G>A c.1379G>A (n.1379G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11758528G= | CA1764074504 | GATA4 | c.*53G= (n.*53G=) n.827G= c.1379G= (n.1379G=) | |
8 | g.11758529C>A | CA2579094238 | GATA4 | c.*54C>A (n.*54C>A) n.828C>A c.1380C>A (n.1380C>A) | |
8 | g.11758529C= | CA1764074507 | GATA4 | c.*54C= (n.*54C=) n.828C= c.1380C= (n.1380C=) | |
8 | g.11758529C>T | CA1764074508 | GATA4 | c.*54C>T (n.*54C>T) n.828C>T c.1380C>T (n.1380C>T) | dbSNP |