| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11758282C= | CA1764074068 | GATA4 | c.1147-11C= (n.1147-11C=) c.1150-11C= (n.1150-11C=) n.592-11C= c.529-11C= (n.529-11C=) c.1144-11C= (n.1144-11C=) c.403-11C= (n.403-11C=) | |
| 8 | g.11758282C>T | CA846163740 | GATA4 | c.1147-11C>T (n.1147-11C>T) c.1150-11C>T (n.1150-11C>T) n.592-11C>T c.529-11C>T (n.529-11C>T) c.1144-11C>T (n.1144-11C>T) c.403-11C>T (n.403-11C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758285C>T | CA2686137361 | GATA4 | c.1147-8C>T (n.1147-8C>T) c.1150-8C>T (n.1150-8C>T) n.592-8C>T c.529-8C>T (n.529-8C>T) c.1144-8C>T (n.1144-8C>T) c.403-8C>T (n.403-8C>T) | ClinVar gnomAD v4 |
| 8 | g.11758285_11758286delinsCT | CA1764074070 | GATA4 | c.1147-8_1147-7delinsCT (n.1147-8_1147-7delinsCT) c.1150-8_1150-7delinsCT (n.1150-8_1150-7delinsCT) n.592-8_592-7delinsCT c.529-8_529-7delinsCT (n.529-8_529-7delinsCT) c.1144-8_1144-7delinsCT (n.1144-8_1144-7delinsCT) c.403-8_403-7delinsCT (n.403-8_403-7delinsCT) | |
| 8 | g.11758286T>C | CA4630875 | GATA4 | c.1147-7T>C (n.1147-7T>C) c.1150-7T>C (n.1150-7T>C) n.592-7T>C c.529-7T>C (n.529-7T>C) c.1144-7T>C (n.1144-7T>C) c.403-7T>C (n.403-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758286T= | CA1764074073 | GATA4 | c.1147-7T= (n.1147-7T=) c.1150-7T= (n.1150-7T=) n.592-7T= c.529-7T= (n.529-7T=) c.1144-7T= (n.1144-7T=) c.403-7T= (n.403-7T=) | |
| 8 | g.11758289del | CA1764074076 | GATA4 | c.1147-4del (n.1147-4del) c.1150-4del (n.1150-4del) n.592-4del c.529-4del (n.529-4del) c.1144-4del (n.1144-4del) c.403-4del (n.403-4del) | dbSNP |
| 8 | g.11758290C>G | CA2697549754 | GATA4 | c.1147-3C>G (n.1147-3C>G) c.1150-3C>G (n.1150-3C>G) n.592-3C>G c.529-3C>G (n.529-3C>G) c.1144-3C>G (n.1144-3C>G) c.403-3C>G (n.403-3C>G) | ClinVar |
| 8 | g.11758290C>T | CA645543525 | GATA4 | c.1147-3C>T (n.1147-3C>T) c.1150-3C>T (n.1150-3C>T) n.592-3C>T c.529-3C>T (n.529-3C>T) c.1144-3C>T (n.1144-3C>T) c.403-3C>T (n.403-3C>T) | COSMIC |
| 8 | g.11758291A>C | CA370315521 | GATA4 | c.1147-2A>C (n.1147-2A>C) c.1150-2A>C (n.1150-2A>C) n.592-2A>C c.529-2A>C (n.529-2A>C) c.1144-2A>C (n.1144-2A>C) c.403-2A>C (n.403-2A>C) | |
| 8 | g.11758291A>G | CA370315522 | GATA4 | c.1147-2A>G (n.1147-2A>G) c.1150-2A>G (n.1150-2A>G) n.592-2A>G c.529-2A>G (n.529-2A>G) c.1144-2A>G (n.1144-2A>G) c.403-2A>G (n.403-2A>G) | |
| 8 | g.11758291A>T | CA370315523 | GATA4 | c.1147-2A>T (n.1147-2A>T) c.1150-2A>T (n.1150-2A>T) n.592-2A>T c.529-2A>T (n.529-2A>T) c.1144-2A>T (n.1144-2A>T) c.403-2A>T (n.403-2A>T) | |
| 8 | g.11758292G>A | CA370315524 | GATA4 | c.1147-1G>A (n.1147-1G>A) c.1150-1G>A (n.1150-1G>A) n.592-1G>A c.529-1G>A (n.529-1G>A) c.1144-1G>A (n.1144-1G>A) c.403-1G>A (n.403-1G>A) | gnomAD v4 |
| 8 | g.11758292G>C | CA370315525 | GATA4 | c.1147-1G>C (n.1147-1G>C) c.1150-1G>C (n.1150-1G>C) n.592-1G>C c.529-1G>C (n.529-1G>C) c.1144-1G>C (n.1144-1G>C) c.403-1G>C (n.403-1G>C) | |
| 8 | g.11758292G>T | CA370315526 | GATA4 | c.1147-1G>T (n.1147-1G>T) c.1150-1G>T (n.1150-1G>T) n.592-1G>T c.529-1G>T (n.529-1G>T) c.1144-1G>T (n.1144-1G>T) c.403-1G>T (n.403-1G>T) | |
| 8 | g.11758293A>C | CA370315527 | GATA4 | c.1147A>C (p.Thr383Pro) c.1150A>C (p.Thr384Pro) n.592A>C c.529A>C (p.Thr177Pro) c.1144A>C (p.Thr382Pro) c.403A>C (p.Thr135Pro) | dbSNP gnomAD v4 |
| 8 | g.11758293A>G | CA370315528 | GATA4 | c.1147A>G (p.Thr383Ala) c.1150A>G (p.Thr384Ala) n.592A>G c.529A>G (p.Thr177Ala) c.1144A>G (p.Thr382Ala) c.403A>G (p.Thr135Ala) | |
| 8 | g.11758293A>T | CA370315529 | GATA4 | c.1147A>T (p.Thr383Ser) c.1150A>T (p.Thr384Ser) n.592A>T c.529A>T (p.Thr177Ser) c.1144A>T (p.Thr382Ser) c.403A>T (p.Thr135Ser) | |
| 8 | g.11758294C>A | CA370315530 | GATA4 | c.1148C>A (p.Thr383Lys) c.1151C>A (p.Thr384Lys) n.593C>A c.530C>A (p.Thr177Lys) c.1145C>A (p.Thr382Lys) c.404C>A (p.Thr135Lys) | |
| 8 | g.11758294C= | CA1764074083 | GATA4 | c.1148C= (p.Thr383=) c.1151C= (p.Thr384=) n.593C= c.530C= (p.Thr177=) c.1145C= (p.Thr382=) c.404C= (p.Thr135=) | |
| 8 | g.11758294C>G | CA370315531 | GATA4 | c.1148C>G (p.Thr383Arg) c.1151C>G (p.Thr384Arg) n.593C>G c.530C>G (p.Thr177Arg) c.1145C>G (p.Thr382Arg) c.404C>G (p.Thr135Arg) | |
| 8 | g.11758294C>T | CA4630876 | GATA4 | c.1148C>T (p.Thr383Met) c.1151C>T (p.Thr384Met) n.593C>T c.530C>T (p.Thr177Met) c.1145C>T (p.Thr382Met) c.404C>T (p.Thr135Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758295G>A | CA4630877 | GATA4 | c.1149G>A (p.Thr383=) c.1152G>A (p.Thr384=) n.594G>A c.531G>A (p.Thr177=) c.1146G>A (p.Thr382=) c.405G>A (p.Thr135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758295G>C | CA459314019 | GATA4 | c.1149G>C (p.Thr383=) c.1152G>C (p.Thr384=) n.594G>C c.531G>C (p.Thr177=) c.1146G>C (p.Thr382=) c.405G>C (p.Thr135=) | gnomAD v4 |
| 8 | g.11758295G= | CA1764074090 | GATA4 | c.1149G= (p.Thr383=) c.1152G= (p.Thr384=) n.594G= c.531G= (p.Thr177=) c.1146G= (p.Thr382=) c.405G= (p.Thr135=) | |
| 8 | g.11758295G>T | CA459314021 | GATA4 | c.1149G>T (p.Thr383=) c.1152G>T (p.Thr384=) n.594G>T c.531G>T (p.Thr177=) c.1146G>T (p.Thr382=) c.405G>T (p.Thr135=) | |
| 8 | g.11758296T>A | CA370315534 | GATA4 | c.1150T>A (p.Phe384Ile) c.1153T>A (p.Phe385Ile) n.595T>A c.532T>A (p.Phe178Ile) c.1147T>A (p.Phe383Ile) c.406T>A (p.Phe136Ile) | |
| 8 | g.11758296T>C | CA370315533 | GATA4 | c.1150T>C (p.Phe384Leu) c.1153T>C (p.Phe385Leu) n.595T>C c.532T>C (p.Phe178Leu) c.1147T>C (p.Phe383Leu) c.406T>C (p.Phe136Leu) | |
| 8 | g.11758296T>G | CA370315532 | GATA4 | c.1150T>G (p.Phe384Val) c.1153T>G (p.Phe385Val) n.595T>G c.532T>G (p.Phe178Val) c.1147T>G (p.Phe383Val) c.406T>G (p.Phe136Val) | |
| 8 | g.11758297T>A | CA370315535 | GATA4 | c.1151T>A (p.Phe384Tyr) c.1154T>A (p.Phe385Tyr) n.596T>A c.533T>A (p.Phe178Tyr) c.1148T>A (p.Phe383Tyr) c.407T>A (p.Phe136Tyr) | |
| 8 | g.11758297T>C | CA370315536 | GATA4 | c.1151T>C (p.Phe384Ser) c.1154T>C (p.Phe385Ser) n.596T>C c.533T>C (p.Phe178Ser) c.1148T>C (p.Phe383Ser) c.407T>C (p.Phe136Ser) | |
| 8 | g.11758297T>G | CA370315537 | GATA4 | c.1151T>G (p.Phe384Cys) c.1154T>G (p.Phe385Cys) n.596T>G c.533T>G (p.Phe178Cys) c.1148T>G (p.Phe383Cys) c.407T>G (p.Phe136Cys) | |
| 8 | g.11758298C>A | CA370315538 | GATA4 | c.1152C>A (p.Phe384Leu) c.1155C>A (p.Phe385Leu) n.597C>A c.534C>A (p.Phe178Leu) c.1149C>A (p.Phe383Leu) c.408C>A (p.Phe136Leu) | |
| 8 | g.11758298C= | CA1764074095 | GATA4 | c.1152C= (p.Phe384=) c.1155C= (p.Phe385=) n.597C= c.534C= (p.Phe178=) c.1149C= (p.Phe383=) c.408C= (p.Phe136=) | |
| 8 | g.11758298C>G | CA172121361 | GATA4 | c.1152C>G (p.Phe384Leu) c.1155C>G (p.Phe385Leu) n.597C>G c.534C>G (p.Phe178Leu) c.1149C>G (p.Phe383Leu) c.408C>G (p.Phe136Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758298C>T | CA172121369 | GATA4 | c.1152C>T (p.Phe384=) c.1155C>T (p.Phe385=) n.597C>T c.534C>T (p.Phe178=) c.1149C>T (p.Phe383=) c.408C>T (p.Phe136=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758299T>A | CA370315539 | GATA4 | c.1153T>A (p.Ser385Thr) c.1156T>A (p.Ser386Thr) n.598T>A c.535T>A (p.Ser179Thr) c.1150T>A (p.Ser384Thr) c.409T>A (p.Ser137Thr) | |
| 8 | g.11758299T>C | CA370315540 | GATA4 | c.1153T>C (p.Ser385Pro) c.1156T>C (p.Ser386Pro) n.598T>C c.535T>C (p.Ser179Pro) c.1150T>C (p.Ser384Pro) c.409T>C (p.Ser137Pro) | |
| 8 | g.11758299T>G | CA370315541 | GATA4 | c.1153T>G (p.Ser385Ala) c.1156T>G (p.Ser386Ala) n.598T>G c.535T>G (p.Ser179Ala) c.1150T>G (p.Ser384Ala) c.409T>G (p.Ser137Ala) | |
| 8 | g.11758300C>A | CA370315542 | GATA4 | c.1154C>A (p.Ser385Ter) c.1157C>A (p.Ser386Ter) n.599C>A c.536C>A (p.Ser179Ter) c.1151C>A (p.Ser384Ter) c.410C>A (p.Ser137Ter) | |
| 8 | g.11758300C= | CA1764074098 | GATA4 | c.1154C= (p.Ser385=) c.1157C= (p.Ser386=) n.599C= c.536C= (p.Ser179=) c.1151C= (p.Ser384=) c.410C= (p.Ser137=) | |
| 8 | g.11758300C>G | CA370315543 | GATA4 | c.1154C>G (p.Ser385Ter) c.1157C>G (p.Ser386Ter) n.599C>G c.536C>G (p.Ser179Ter) c.1151C>G (p.Ser384Ter) c.410C>G (p.Ser137Ter) | |
| 8 | g.11758300C>T | CA370315544 | GATA4 | c.1154C>T (p.Ser385Leu) c.1157C>T (p.Ser386Leu) n.599C>T c.536C>T (p.Ser179Leu) c.1151C>T (p.Ser384Leu) c.410C>T (p.Ser137Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758301A>C | CA459314025 | GATA4 | c.1155A>C (p.Ser385=) c.1158A>C (p.Ser386=) n.600A>C c.537A>C (p.Ser179=) c.1152A>C (p.Ser384=) c.411A>C (p.Ser137=) | |
| 8 | g.11758301A>G | CA459314026 | GATA4 | c.1155A>G (p.Ser385=) c.1158A>G (p.Ser386=) n.600A>G c.537A>G (p.Ser179=) c.1152A>G (p.Ser384=) c.411A>G (p.Ser137=) | |
| 8 | g.11758301A>T | CA459314027 | GATA4 | c.1155A>T (p.Ser385=) c.1158A>T (p.Ser386=) n.600A>T c.537A>T (p.Ser179=) c.1152A>T (p.Ser384=) c.411A>T (p.Ser137=) | |
| 8 | g.11758302G>A | CA370315545 | GATA4 | c.1156G>A (p.Val386Ile) c.1159G>A (p.Val387Ile) n.601G>A c.538G>A (p.Val180Ile) c.1153G>A (p.Val385Ile) c.412G>A (p.Val138Ile) | dbSNP |
| 8 | g.11758302G>C | CA370315546 | GATA4 | c.1156G>C (p.Val386Leu) c.1159G>C (p.Val387Leu) n.601G>C c.538G>C (p.Val180Leu) c.1153G>C (p.Val385Leu) c.412G>C (p.Val138Leu) | |
| 8 | g.11758302G= | CA1764074100 | GATA4 | c.1156G= (p.Val386=) c.1159G= (p.Val387=) n.601G= c.538G= (p.Val180=) c.1153G= (p.Val385=) c.412G= (p.Val138=) | |
| 8 | g.11758302G>T | CA370315547 | GATA4 | c.1156G>T (p.Val386Phe) c.1159G>T (p.Val387Phe) n.601G>T c.538G>T (p.Val180Phe) c.1153G>T (p.Val385Phe) c.412G>T (p.Val138Phe) | dbSNP |
| 8 | g.11758303T>A | CA370315549 | GATA4 | c.1157T>A (p.Val386Asp) c.1160T>A (p.Val387Asp) n.602T>A c.539T>A (p.Val180Asp) c.1154T>A (p.Val385Asp) c.413T>A (p.Val138Asp) | |
| 8 | g.11758303T>C | CA172121374 | GATA4 | c.1157T>C (p.Val386Ala) c.1160T>C (p.Val387Ala) n.602T>C c.539T>C (p.Val180Ala) c.1154T>C (p.Val385Ala) c.413T>C (p.Val138Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758303T>G | CA370315548 | GATA4 | c.1157T>G (p.Val386Gly) c.1160T>G (p.Val387Gly) n.602T>G c.539T>G (p.Val180Gly) c.1154T>G (p.Val385Gly) c.413T>G (p.Val138Gly) | |
| 8 | g.11758303T= | CA1764074104 | GATA4 | c.1157T= (p.Val386=) c.1160T= (p.Val387=) n.602T= c.539T= (p.Val180=) c.1154T= (p.Val385=) c.413T= (p.Val138=) | |
| 8 | g.11758304C>A | CA459314029 | GATA4 | c.1158C>A (p.Val386=) c.1161C>A (p.Val387=) n.603C>A c.540C>A (p.Val180=) c.1155C>A (p.Val385=) c.414C>A (p.Val138=) | |
| 8 | g.11758304C= | CA1764074109 | GATA4 | c.1158C= (p.Val386=) c.1161C= (p.Val387=) n.603C= c.540C= (p.Val180=) c.1155C= (p.Val385=) c.414C= (p.Val138=) | |
| 8 | g.11758304C>G | CA459314030 | GATA4 | c.1158C>G (p.Val386=) c.1161C>G (p.Val387=) n.603C>G c.540C>G (p.Val180=) c.1155C>G (p.Val385=) c.414C>G (p.Val138=) | |
| 8 | g.11758304C>T | CA4630878 | GATA4 | c.1158C>T (p.Val386=) c.1161C>T (p.Val387=) n.603C>T c.540C>T (p.Val180=) c.1155C>T (p.Val385=) c.414C>T (p.Val138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758305A= | CA1764074111 | GATA4 | c.1159A= (p.Ser387=) c.1162A= (p.Ser388=) n.604A= c.541A= (p.Ser181=) c.1156A= (p.Ser386=) c.415A= (p.Ser139=) | |
| 8 | g.11758305A>C | CA370315550 | GATA4 | c.1159A>C (p.Ser387Arg) c.1162A>C (p.Ser388Arg) n.604A>C c.541A>C (p.Ser181Arg) c.1156A>C (p.Ser386Arg) c.415A>C (p.Ser139Arg) | |
| 8 | g.11758305A>G | CA370315551 | GATA4 | c.1159A>G (p.Ser387Gly) c.1162A>G (p.Ser388Gly) n.604A>G c.541A>G (p.Ser181Gly) c.1156A>G (p.Ser386Gly) c.415A>G (p.Ser139Gly) | |
| 8 | g.11758305A>T | CA370315552 | GATA4 | c.1159A>T (p.Ser387Cys) c.1162A>T (p.Ser388Cys) n.604A>T c.541A>T (p.Ser181Cys) c.1156A>T (p.Ser386Cys) c.415A>T (p.Ser139Cys) | dbSNP |
| 8 | g.11758306G>A | CA370315553 | GATA4 | c.1160G>A (p.Ser387Asn) c.1163G>A (p.Ser388Asn) n.605G>A c.542G>A (p.Ser181Asn) c.1157G>A (p.Ser386Asn) c.416G>A (p.Ser139Asn) | |
| 8 | g.11758306G>C | CA370315554 | GATA4 | c.1160G>C (p.Ser387Thr) c.1163G>C (p.Ser388Thr) n.605G>C c.542G>C (p.Ser181Thr) c.1157G>C (p.Ser386Thr) c.416G>C (p.Ser139Thr) | |
| 8 | g.11758306G>T | CA370315555 | GATA4 | c.1160G>T (p.Ser387Ile) c.1163G>T (p.Ser388Ile) n.605G>T c.542G>T (p.Ser181Ile) c.1157G>T (p.Ser386Ile) c.416G>T (p.Ser139Ile) | |
| 8 | g.11758307T>A | CA370315556 | GATA4 | c.1161T>A (p.Ser387Arg) c.1164T>A (p.Ser388Arg) n.606T>A c.543T>A (p.Ser181Arg) c.1158T>A (p.Ser386Arg) c.417T>A (p.Ser139Arg) | |
| 8 | g.11758307T>C | CA459314034 | GATA4 | c.1161T>C (p.Ser387=) c.1164T>C (p.Ser388=) n.606T>C c.543T>C (p.Ser181=) c.1158T>C (p.Ser386=) c.417T>C (p.Ser139=) | |
| 8 | g.11758307T>G | CA370315557 | GATA4 | c.1161T>G (p.Ser387Arg) c.1164T>G (p.Ser388Arg) n.606T>G c.543T>G (p.Ser181Arg) c.1158T>G (p.Ser386Arg) c.417T>G (p.Ser139Arg) | |
| 8 | g.11758308G>A | CA172121384 | GATA4 | c.1162G>A (p.Ala388Thr) c.1165G>A (p.Ala389Thr) n.607G>A c.544G>A (p.Ala182Thr) c.1159G>A (p.Ala387Thr) c.418G>A (p.Ala140Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758308G>C | CA370315558 | GATA4 | c.1162G>C (p.Ala388Pro) c.1165G>C (p.Ala389Pro) n.607G>C c.544G>C (p.Ala182Pro) c.1159G>C (p.Ala387Pro) c.418G>C (p.Ala140Pro) | |
| 8 | g.11758308G= | CA1764074112 | GATA4 | c.1162G= (p.Ala388=) c.1165G= (p.Ala389=) n.607G= c.544G= (p.Ala182=) c.1159G= (p.Ala387=) c.418G= (p.Ala140=) | |
| 8 | g.11758308G>T | CA370315559 | GATA4 | c.1162G>T (p.Ala388Ser) c.1165G>T (p.Ala389Ser) n.607G>T c.544G>T (p.Ala182Ser) c.1159G>T (p.Ala387Ser) c.418G>T (p.Ala140Ser) | |
| 8 | g.11758309C>A | CA172121394 | GATA4 | c.1163C>A (p.Ala388Glu) c.1166C>A (p.Ala389Glu) n.608C>A c.545C>A (p.Ala182Glu) c.1160C>A (p.Ala387Glu) c.419C>A (p.Ala140Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758309C= | CA1764074113 | GATA4 | c.1163C= (p.Ala388=) c.1166C= (p.Ala389=) n.608C= c.545C= (p.Ala182=) c.1160C= (p.Ala387=) c.419C= (p.Ala140=) | |
| 8 | g.11758309C>G | CA370315560 | GATA4 | c.1163C>G (p.Ala388Gly) c.1166C>G (p.Ala389Gly) n.608C>G c.545C>G (p.Ala182Gly) c.1160C>G (p.Ala387Gly) c.419C>G (p.Ala140Gly) | |
| 8 | g.11758309C>T | CA4630879 | GATA4 | c.1163C>T (p.Ala388Val) c.1166C>T (p.Ala389Val) n.608C>T c.545C>T (p.Ala182Val) c.1160C>T (p.Ala387Val) c.419C>T (p.Ala140Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758310G>A | CA4630880 | GATA4 | c.1164G>A (p.Ala388=) c.1167G>A (p.Ala389=) n.609G>A c.546G>A (p.Ala182=) c.1161G>A (p.Ala387=) c.420G>A (p.Ala140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758310G>C | CA172121398 | GATA4 | c.1164G>C (p.Ala388=) c.1167G>C (p.Ala389=) n.609G>C c.546G>C (p.Ala182=) c.1161G>C (p.Ala387=) c.420G>C (p.Ala140=) | dbSNP |
| 8 | g.11758310G= | CA1764074114 | GATA4 | c.1164G= (p.Ala388=) c.1167G= (p.Ala389=) n.609G= c.546G= (p.Ala182=) c.1161G= (p.Ala387=) c.420G= (p.Ala140=) | |
| 8 | g.11758310G>T | CA4630881 | GATA4 | c.1164G>T (p.Ala388=) c.1167G>T (p.Ala389=) n.609G>T c.546G>T (p.Ala182=) c.1161G>T (p.Ala387=) c.420G>T (p.Ala140=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758311A>C | CA370315561 | GATA4 | c.1165A>C (p.Met389Leu) c.1168A>C (p.Met390Leu) n.610A>C c.547A>C (p.Met183Leu) c.1162A>C (p.Met388Leu) c.421A>C (p.Met141Leu) | COSMIC |
| 8 | g.11758311A>G | CA370315562 | GATA4 | c.1165A>G (p.Met389Val) c.1168A>G (p.Met390Val) n.610A>G c.547A>G (p.Met183Val) c.1162A>G (p.Met388Val) c.421A>G (p.Met141Val) | gnomAD v4 |
| 8 | g.11758311A>T | CA370315563 | GATA4 | c.1165A>T (p.Met389Leu) c.1168A>T (p.Met390Leu) n.610A>T c.547A>T (p.Met183Leu) c.1162A>T (p.Met388Leu) c.421A>T (p.Met141Leu) | |
| 8 | g.11758312T>A | CA370315564 | GATA4 | c.1166T>A (p.Met389Lys) c.1169T>A (p.Met390Lys) n.611T>A c.548T>A (p.Met183Lys) c.1163T>A (p.Met388Lys) c.422T>A (p.Met141Lys) | |
| 8 | g.11758312T>C | CA370315565 | GATA4 | c.1166T>C (p.Met389Thr) c.1169T>C (p.Met390Thr) n.611T>C c.548T>C (p.Met183Thr) c.1163T>C (p.Met388Thr) c.422T>C (p.Met141Thr) | dbSNP gnomAD v4 |
| 8 | g.11758312T>G | CA370315566 | GATA4 | c.1166T>G (p.Met389Arg) c.1169T>G (p.Met390Arg) n.611T>G c.548T>G (p.Met183Arg) c.1163T>G (p.Met388Arg) c.422T>G (p.Met141Arg) | |
| 8 | g.11758312T= | CA1764074115 | GATA4 | c.1166T= (p.Met389=) c.1169T= (p.Met390=) n.611T= c.548T= (p.Met183=) c.1163T= (p.Met388=) c.422T= (p.Met141=) | |
| 8 | g.11758313G>A | CA370315567 | GATA4 | c.1167G>A (p.Met389Ile) c.1170G>A (p.Met390Ile) n.612G>A c.549G>A (p.Met183Ile) c.1164G>A (p.Met388Ile) c.423G>A (p.Met141Ile) | |
| 8 | g.11758313G>C | CA370315568 | GATA4 | c.1167G>C (p.Met389Ile) c.1170G>C (p.Met390Ile) n.612G>C c.549G>C (p.Met183Ile) c.1164G>C (p.Met388Ile) c.423G>C (p.Met141Ile) | |
| 8 | g.11758313G>T | CA370315569 | GATA4 | c.1167G>T (p.Met389Ile) c.1170G>T (p.Met390Ile) n.612G>T c.549G>T (p.Met183Ile) c.1164G>T (p.Met388Ile) c.423G>T (p.Met141Ile) | |
| 8 | g.11758314T>A | CA172121402 | GATA4 | c.1168T>A (p.Ser390Thr) c.1171T>A (p.Ser391Thr) n.613T>A c.550T>A (p.Ser184Thr) c.1165T>A (p.Ser389Thr) c.424T>A (p.Ser142Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758314T>C | CA370315571 | GATA4 | c.1168T>C (p.Ser390Pro) c.1171T>C (p.Ser391Pro) n.613T>C c.550T>C (p.Ser184Pro) c.1165T>C (p.Ser389Pro) c.424T>C (p.Ser142Pro) | |
| 8 | g.11758314T>G | CA370315570 | GATA4 | c.1168T>G (p.Ser390Ala) c.1171T>G (p.Ser391Ala) n.613T>G c.550T>G (p.Ser184Ala) c.1165T>G (p.Ser389Ala) c.424T>G (p.Ser142Ala) | |
| 8 | g.11758314T= | CA1764074116 | GATA4 | c.1168T= (p.Ser390=) c.1171T= (p.Ser391=) n.613T= c.550T= (p.Ser184=) c.1165T= (p.Ser389=) c.424T= (p.Ser142=) | |
| 8 | g.11758315C>A | CA370315572 | GATA4 | c.1169C>A (p.Ser390Tyr) c.1172C>A (p.Ser391Tyr) n.614C>A c.551C>A (p.Ser184Tyr) c.1166C>A (p.Ser389Tyr) c.425C>A (p.Ser142Tyr) | |
| 8 | g.11758315C>G | CA370315574 | GATA4 | c.1169C>G (p.Ser390Cys) c.1172C>G (p.Ser391Cys) n.614C>G c.551C>G (p.Ser184Cys) c.1166C>G (p.Ser389Cys) c.425C>G (p.Ser142Cys) | |
| 8 | g.11758315C>T | CA370315573 | GATA4 | c.1169C>T (p.Ser390Phe) c.1172C>T (p.Ser391Phe) n.614C>T c.551C>T (p.Ser184Phe) c.1166C>T (p.Ser389Phe) c.425C>T (p.Ser142Phe) | |
| 8 | g.11758316T>A | CA459314036 | GATA4 | c.1170T>A (p.Ser390=) c.1173T>A (p.Ser391=) n.615T>A c.552T>A (p.Ser184=) c.1167T>A (p.Ser389=) c.426T>A (p.Ser142=) | |
| 8 | g.11758316T>C | CA459314038 | GATA4 | c.1170T>C (p.Ser390=) c.1173T>C (p.Ser391=) n.615T>C c.552T>C (p.Ser184=) c.1167T>C (p.Ser389=) c.426T>C (p.Ser142=) | gnomAD v4 |
| 8 | g.11758316T>G | CA459314037 | GATA4 | c.1170T>G (p.Ser390=) c.1173T>G (p.Ser391=) n.615T>G c.552T>G (p.Ser184=) c.1167T>G (p.Ser389=) c.426T>G (p.Ser142=) | |
| 8 | g.11758317G>A | CA370315575 | GATA4 | c.1171G>A (p.Gly391Ser) c.1174G>A (p.Gly392Ser) n.616G>A c.553G>A (p.Gly185Ser) c.1168G>A (p.Gly390Ser) c.427G>A (p.Gly143Ser) | |
| 8 | g.11758317G>C | CA370315576 | GATA4 | c.1171G>C (p.Gly391Arg) c.1174G>C (p.Gly392Arg) n.616G>C c.553G>C (p.Gly185Arg) c.1168G>C (p.Gly390Arg) c.427G>C (p.Gly143Arg) | |
| 8 | g.11758317G>T | CA370315577 | GATA4 | c.1171G>T (p.Gly391Cys) c.1174G>T (p.Gly392Cys) n.616G>T c.553G>T (p.Gly185Cys) c.1168G>T (p.Gly390Cys) c.427G>T (p.Gly143Cys) | |
| 8 | g.11758318G>A | CA370315578 | GATA4 | c.1172G>A (p.Gly391Asp) c.1175G>A (p.Gly392Asp) n.617G>A c.554G>A (p.Gly185Asp) c.1169G>A (p.Gly390Asp) c.428G>A (p.Gly143Asp) | COSMIC |
| 8 | g.11758318G>C | CA4630882 | GATA4 | c.1172G>C (p.Gly391Ala) c.1175G>C (p.Gly392Ala) n.617G>C c.554G>C (p.Gly185Ala) c.1169G>C (p.Gly390Ala) c.428G>C (p.Gly143Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758318G= | CA1764074117 | GATA4 | c.1172G= (p.Gly391=) c.1175G= (p.Gly392=) n.617G= c.554G= (p.Gly185=) c.1169G= (p.Gly390=) c.428G= (p.Gly143=) | |
| 8 | g.11758318G>T | CA370315579 | GATA4 | c.1172G>T (p.Gly391Val) c.1175G>T (p.Gly392Val) n.617G>T c.554G>T (p.Gly185Val) c.1169G>T (p.Gly390Val) c.428G>T (p.Gly143Val) | ClinVar dbSNP |
| 8 | g.11758319C>A | CA459314042 | GATA4 | c.1173C>A (p.Gly391=) c.1176C>A (p.Gly392=) n.618C>A c.555C>A (p.Gly185=) c.1170C>A (p.Gly390=) c.429C>A (p.Gly143=) | |
| 8 | g.11758319C>G | CA459314044 | GATA4 | c.1173C>G (p.Gly391=) c.1176C>G (p.Gly392=) n.618C>G c.555C>G (p.Gly185=) c.1170C>G (p.Gly390=) c.429C>G (p.Gly143=) | |
| 8 | g.11758319C>T | CA459314046 | GATA4 | c.1173C>T (p.Gly391=) c.1176C>T (p.Gly392=) n.618C>T c.555C>T (p.Gly185=) c.1170C>T (p.Gly390=) c.429C>T (p.Gly143=) | |
| 8 | g.11758320C>A | CA370315582 | GATA4 | c.1174C>A (p.His392Asn) c.1177C>A (p.His393Asn) n.619C>A c.556C>A (p.His186Asn) c.1171C>A (p.His391Asn) c.430C>A (p.His144Asn) | |
| 8 | g.11758320C= | CA1764074118 | GATA4 | c.1174C= (p.His392=) c.1177C= (p.His393=) n.619C= c.556C= (p.His186=) c.1171C= (p.His391=) c.430C= (p.His144=) | |
| 8 | g.11758320C>G | CA370315580 | GATA4 | c.1174C>G (p.His392Asp) c.1177C>G (p.His393Asp) n.619C>G c.556C>G (p.His186Asp) c.1171C>G (p.His391Asp) c.430C>G (p.His144Asp) | |
| 8 | g.11758320C>T | CA370315581 | GATA4 | c.1174C>T (p.His392Tyr) c.1177C>T (p.His393Tyr) n.619C>T c.556C>T (p.His186Tyr) c.1171C>T (p.His391Tyr) c.430C>T (p.His144Tyr) | ClinVar dbSNP |
| 8 | g.11758321A= | CA1764074119 | GATA4 | c.1175A= (p.His392=) c.1178A= (p.His393=) n.620A= c.557A= (p.His186=) c.1172A= (p.His391=) c.431A= (p.His144=) | |
| 8 | g.11758321A>C | CA4630883 | GATA4 | c.1175A>C (p.His392Pro) c.1178A>C (p.His393Pro) n.620A>C c.557A>C (p.His186Pro) c.1172A>C (p.His391Pro) c.431A>C (p.His144Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758321A>G | CA172121414 | GATA4 | c.1175A>G (p.His392Arg) c.1178A>G (p.His393Arg) n.620A>G c.557A>G (p.His186Arg) c.1172A>G (p.His391Arg) c.431A>G (p.His144Arg) | ClinVar dbSNP gnomAD v4 |
| 8 | g.11758321A>T | CA370315583 | GATA4 | c.1175A>T (p.His392Leu) c.1178A>T (p.His393Leu) n.620A>T c.557A>T (p.His186Leu) c.1172A>T (p.His391Leu) c.431A>T (p.His144Leu) | ClinVar |
| 8 | g.11758322T>A | CA370315584 | GATA4 | c.1176T>A (p.His392Gln) c.1179T>A (p.His393Gln) n.621T>A c.558T>A (p.His186Gln) c.1173T>A (p.His391Gln) c.432T>A (p.His144Gln) | |
| 8 | g.11758322T>C | CA459314050 | GATA4 | c.1176T>C (p.His392=) c.1179T>C (p.His393=) n.621T>C c.558T>C (p.His186=) c.1173T>C (p.His391=) c.432T>C (p.His144=) | gnomAD v4 |
| 8 | g.11758322T>G | CA370315585 | GATA4 | c.1176T>G (p.His392Gln) c.1179T>G (p.His393Gln) n.621T>G c.558T>G (p.His186Gln) c.1173T>G (p.His391Gln) c.432T>G (p.His144Gln) | |
| 8 | g.11758323G>A | CA370315588 | GATA4 | c.1177G>A (p.Gly393Arg) c.1180G>A (p.Gly394Arg) n.622G>A c.559G>A (p.Gly187Arg) c.1174G>A (p.Gly392Arg) c.433G>A (p.Gly145Arg) | COSMIC |
| 8 | g.11758323G>C | CA370315586 | GATA4 | c.1177G>C (p.Gly393Arg) c.1180G>C (p.Gly394Arg) n.622G>C c.559G>C (p.Gly187Arg) c.1174G>C (p.Gly392Arg) c.433G>C (p.Gly145Arg) | |
| 8 | g.11758323G>T | CA370315587 | GATA4 | c.1177G>T (p.Gly393Trp) c.1180G>T (p.Gly394Trp) n.622G>T c.559G>T (p.Gly187Trp) c.1174G>T (p.Gly392Trp) c.433G>T (p.Gly145Trp) | |
| 8 | g.11758324G>A | CA172121418 | GATA4 | c.1178G>A (p.Gly393Glu) c.1181G>A (p.Gly394Glu) n.623G>A c.560G>A (p.Gly187Glu) c.1175G>A (p.Gly392Glu) c.434G>A (p.Gly145Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758324G>C | CA370315589 | GATA4 | c.1178G>C (p.Gly393Ala) c.1181G>C (p.Gly394Ala) n.623G>C c.560G>C (p.Gly187Ala) c.1175G>C (p.Gly392Ala) c.434G>C (p.Gly145Ala) | |
| 8 | g.11758324G= | CA1764074120 | GATA4 | c.1178G= (p.Gly393=) c.1181G= (p.Gly394=) n.623G= c.560G= (p.Gly187=) c.1175G= (p.Gly392=) c.434G= (p.Gly145=) | |
| 8 | g.11758324G>T | CA370315590 | GATA4 | c.1178G>T (p.Gly393Val) c.1181G>T (p.Gly394Val) n.623G>T c.560G>T (p.Gly187Val) c.1175G>T (p.Gly392Val) c.434G>T (p.Gly145Val) | ClinVar gnomAD v4 |
| 8 | g.11758325G>A | CA459314052 | GATA4 | c.1179G>A (p.Gly393=) c.1182G>A (p.Gly394=) n.624G>A c.561G>A (p.Gly187=) c.1176G>A (p.Gly392=) c.435G>A (p.Gly145=) | |
| 8 | g.11758325G>C | CA459314053 | GATA4 | c.1179G>C (p.Gly393=) c.1182G>C (p.Gly394=) n.624G>C c.561G>C (p.Gly187=) c.1176G>C (p.Gly392=) c.435G>C (p.Gly145=) | |
| 8 | g.11758325G>T | CA459314054 | GATA4 | c.1179G>T (p.Gly393=) c.1182G>T (p.Gly394=) n.624G>T c.561G>T (p.Gly187=) c.1176G>T (p.Gly392=) c.435G>T (p.Gly145=) | gnomAD v4 |
| 8 | g.11758326C>A | CA4630884 | GATA4 | c.1180C>A (p.Pro394Thr) c.1183C>A (p.Pro395Thr) n.625C>A c.562C>A (p.Pro188Thr) c.1177C>A (p.Pro393Thr) c.436C>A (p.Pro146Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758326C= | CA1764074121 | GATA4 | c.1180C= (p.Pro394=) c.1183C= (p.Pro395=) n.625C= c.562C= (p.Pro188=) c.1177C= (p.Pro393=) c.436C= (p.Pro146=) | |
| 8 | g.11758326C>G | CA370315591 | GATA4 | c.1180C>G (p.Pro394Ala) c.1183C>G (p.Pro395Ala) n.625C>G c.562C>G (p.Pro188Ala) c.1177C>G (p.Pro393Ala) c.436C>G (p.Pro146Ala) | |
| 8 | g.11758326C>T | CA370315592 | GATA4 | c.1180C>T (p.Pro394Ser) c.1183C>T (p.Pro395Ser) n.625C>T c.562C>T (p.Pro188Ser) c.1177C>T (p.Pro393Ser) c.436C>T (p.Pro146Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758327C>A | CA370315593 | GATA4 | c.1181C>A (p.Pro394His) c.1184C>A (p.Pro395His) n.626C>A c.563C>A (p.Pro188His) c.1178C>A (p.Pro393His) c.437C>A (p.Pro146His) | |
| 8 | g.11758327C>G | CA370315594 | GATA4 | c.1181C>G (p.Pro394Arg) c.1184C>G (p.Pro395Arg) n.626C>G c.563C>G (p.Pro188Arg) c.1178C>G (p.Pro393Arg) c.437C>G (p.Pro146Arg) | gnomAD v4 |
| 8 | g.11758327C>T | CA370315595 | GATA4 | c.1181C>T (p.Pro394Leu) c.1184C>T (p.Pro395Leu) n.626C>T c.563C>T (p.Pro188Leu) c.1178C>T (p.Pro393Leu) c.437C>T (p.Pro146Leu) | |
| 8 | g.11758327_11758330delinsCCTC | CA1764074122 | GATA4 | c.1181_1184delinsCCTC (p.Pro394=) c.1184_1187delinsCCTC (p.Pro395=) n.626_629delinsCCTC c.563_566delinsCCTC (p.Pro188=) c.1178_1181delinsCCTC (p.Pro393=) c.437_440delinsCCTC (p.Pro146=) | |
| 8 | g.11758328C>A | CA459314056 | GATA4 | c.1182C>A (p.Pro394=) c.1185C>A (p.Pro395=) n.627C>A c.564C>A (p.Pro188=) c.1179C>A (p.Pro393=) c.438C>A (p.Pro146=) | |
| 8 | g.11758328C= | CA1764074126 | GATA4 | c.1182C= (p.Pro394=) c.1185C= (p.Pro395=) n.627C= c.564C= (p.Pro188=) c.1179C= (p.Pro393=) c.438C= (p.Pro146=) | |
| 8 | g.11758328C>G | CA459314058 | GATA4 | c.1182C>G (p.Pro394=) c.1185C>G (p.Pro395=) n.627C>G c.564C>G (p.Pro188=) c.1179C>G (p.Pro393=) c.438C>G (p.Pro146=) | gnomAD v4 |
| 8 | g.11758328C>T | CA459314059 | GATA4 | c.1182C>T (p.Pro394=) c.1185C>T (p.Pro395=) n.627C>T c.564C>T (p.Pro188=) c.1179C>T (p.Pro393=) c.438C>T (p.Pro146=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758328_11758330delinsTG | CA915945610 | GATA4 | c.1182_1184delinsTG (p.Ser395AlafsTer9) c.1185_1187delinsTG (p.Ser396AlafsTer9) n.627_629delinsTG c.564_566delinsTG (p.Ser189AlafsTer9) c.1179_1181delinsTG (p.Ser394AlafsTer9) c.438_440delinsTG (p.Ser147AlafsTer9) | ClinVar dbSNP |
| 8 | g.11758329T>A | CA370315596 | GATA4 | c.1183T>A (p.Ser395Thr) c.1186T>A (p.Ser396Thr) n.628T>A c.565T>A (p.Ser189Thr) c.1180T>A (p.Ser394Thr) c.439T>A (p.Ser147Thr) | |
| 8 | g.11758329T>C | CA370315597 | GATA4 | c.1183T>C (p.Ser395Pro) c.1186T>C (p.Ser396Pro) n.628T>C c.565T>C (p.Ser189Pro) c.1180T>C (p.Ser394Pro) c.439T>C (p.Ser147Pro) | |
| 8 | g.11758329T>G | CA370315598 | GATA4 | c.1183T>G (p.Ser395Ala) c.1186T>G (p.Ser396Ala) n.628T>G c.565T>G (p.Ser189Ala) c.1180T>G (p.Ser394Ala) c.439T>G (p.Ser147Ala) | |
| 8 | g.11758330C>A | CA370315599 | GATA4 | c.1184C>A (p.Ser395Tyr) c.1187C>A (p.Ser396Tyr) n.629C>A c.566C>A (p.Ser189Tyr) c.1181C>A (p.Ser394Tyr) c.440C>A (p.Ser147Tyr) | gnomAD v4 |
| 8 | g.11758330C>G | CA370315601 | GATA4 | c.1184C>G (p.Ser395Cys) c.1187C>G (p.Ser396Cys) n.629C>G c.566C>G (p.Ser189Cys) c.1181C>G (p.Ser394Cys) c.440C>G (p.Ser147Cys) | gnomAD v4 |
| 8 | g.11758330C>T | CA370315600 | GATA4 | c.1184C>T (p.Ser395Phe) c.1187C>T (p.Ser396Phe) n.629C>T c.566C>T (p.Ser189Phe) c.1181C>T (p.Ser394Phe) c.440C>T (p.Ser147Phe) | |
| 8 | g.11758331C>A | CA4630885 | GATA4 | c.1185C>A (p.Ser395=) c.1188C>A (p.Ser396=) n.630C>A c.567C>A (p.Ser189=) c.1182C>A (p.Ser394=) c.441C>A (p.Ser147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758331C= | CA1764074128 | GATA4 | c.1185C= (p.Ser395=) c.1188C= (p.Ser396=) n.630C= c.567C= (p.Ser189=) c.1182C= (p.Ser394=) c.441C= (p.Ser147=) | |
| 8 | g.11758331C>G | CA459314062 | GATA4 | c.1185C>G (p.Ser395=) c.1188C>G (p.Ser396=) n.630C>G c.567C>G (p.Ser189=) c.1182C>G (p.Ser394=) c.441C>G (p.Ser147=) | |
| 8 | g.11758331C>T | CA459314063 | GATA4 | c.1185C>T (p.Ser395=) c.1188C>T (p.Ser396=) n.630C>T c.567C>T (p.Ser189=) c.1182C>T (p.Ser394=) c.441C>T (p.Ser147=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.11758332A= | CA1764074131 | GATA4 | c.1186A= (p.Ile396=) c.1189A= (p.Ile397=) n.631A= c.568A= (p.Ile190=) c.1183A= (p.Ile395=) c.442A= (p.Ile148=) | |
| 8 | g.11758332A>C | CA370315602 | GATA4 | c.1186A>C (p.Ile396Leu) c.1189A>C (p.Ile397Leu) n.631A>C c.568A>C (p.Ile190Leu) c.1183A>C (p.Ile395Leu) c.442A>C (p.Ile148Leu) | |
| 8 | g.11758332A>G | CA370315603 | GATA4 | c.1186A>G (p.Ile396Val) c.1189A>G (p.Ile397Val) n.631A>G c.568A>G (p.Ile190Val) c.1183A>G (p.Ile395Val) c.442A>G (p.Ile148Val) | dbSNP |
| 8 | g.11758332A>T | CA370315604 | GATA4 | c.1186A>T (p.Ile396Phe) c.1189A>T (p.Ile397Phe) n.631A>T c.568A>T (p.Ile190Phe) c.1183A>T (p.Ile395Phe) c.442A>T (p.Ile148Phe) | |
| 8 | g.11758333T>A | CA370315605 | GATA4 | c.1187T>A (p.Ile396Asn) c.1190T>A (p.Ile397Asn) n.632T>A c.569T>A (p.Ile190Asn) c.1184T>A (p.Ile395Asn) c.443T>A (p.Ile148Asn) | |
| 8 | g.11758333T>C | CA370315606 | GATA4 | c.1187T>C (p.Ile396Thr) c.1190T>C (p.Ile397Thr) n.632T>C c.569T>C (p.Ile190Thr) c.1184T>C (p.Ile395Thr) c.443T>C (p.Ile148Thr) | |
| 8 | g.11758333T>G | CA370315607 | GATA4 | c.1187T>G (p.Ile396Ser) c.1190T>G (p.Ile397Ser) n.632T>G c.569T>G (p.Ile190Ser) c.1184T>G (p.Ile395Ser) c.443T>G (p.Ile148Ser) | |
| 8 | g.11758334C>A | CA459314066 | GATA4 | c.1188C>A (p.Ile396=) c.1191C>A (p.Ile397=) n.633C>A c.570C>A (p.Ile190=) c.1185C>A (p.Ile395=) c.444C>A (p.Ile148=) | |
| 8 | g.11758334C>G | CA370315608 | GATA4 | c.1188C>G (p.Ile396Met) c.1191C>G (p.Ile397Met) n.633C>G c.570C>G (p.Ile190Met) c.1185C>G (p.Ile395Met) c.444C>G (p.Ile148Met) | |
| 8 | g.11758334C>T | CA459314067 | GATA4 | c.1188C>T (p.Ile396=) c.1191C>T (p.Ile397=) n.633C>T c.570C>T (p.Ile190=) c.1185C>T (p.Ile395=) c.444C>T (p.Ile148=) | ClinVar |
| 8 | g.11758335C>A | CA370315609 | GATA4 | c.1189C>A (p.His397Asn) c.1192C>A (p.His398Asn) n.634C>A c.571C>A (p.His191Asn) c.1186C>A (p.His396Asn) c.445C>A (p.His149Asn) | |
| 8 | g.11758335C= | CA1764074133 | GATA4 | c.1189C= (p.His397=) c.1192C= (p.His398=) n.634C= c.571C= (p.His191=) c.1186C= (p.His396=) c.445C= (p.His149=) | |
| 8 | g.11758335C>G | CA370315610 | GATA4 | c.1189C>G (p.His397Asp) c.1192C>G (p.His398Asp) n.634C>G c.571C>G (p.His191Asp) c.1186C>G (p.His396Asp) c.445C>G (p.His149Asp) | |
| 8 | g.11758335C>T | CA370315611 | GATA4 | c.1189C>T (p.His397Tyr) c.1192C>T (p.His398Tyr) n.634C>T c.571C>T (p.His191Tyr) c.1186C>T (p.His396Tyr) c.445C>T (p.His149Tyr) | dbSNP gnomAD v4 |
| 8 | g.11758336A= | CA1764074136 | GATA4 | c.1190A= (p.His397=) c.1193A= (p.His398=) n.635A= c.572A= (p.His191=) c.1187A= (p.His396=) c.446A= (p.His149=) | |
| 8 | g.11758336A>C | CA370315614 | GATA4 | c.1190A>C (p.His397Pro) c.1193A>C (p.His398Pro) n.635A>C c.572A>C (p.His191Pro) c.1187A>C (p.His396Pro) c.446A>C (p.His149Pro) | dbSNP |
| 8 | g.11758336A>G | CA370315613 | GATA4 | c.1190A>G (p.His397Arg) c.1193A>G (p.His398Arg) n.635A>G c.572A>G (p.His191Arg) c.1187A>G (p.His396Arg) c.446A>G (p.His149Arg) | |
| 8 | g.11758336A>T | CA370315612 | GATA4 | c.1190A>T (p.His397Leu) c.1193A>T (p.His398Leu) n.635A>T c.572A>T (p.His191Leu) c.1187A>T (p.His396Leu) c.446A>T (p.His149Leu) | |
| 8 | g.11758337C>A | CA370315615 | GATA4 | c.1191C>A (p.His397Gln) c.1194C>A (p.His398Gln) n.636C>A c.573C>A (p.His191Gln) c.1188C>A (p.His396Gln) c.447C>A (p.His149Gln) | |
| 8 | g.11758337C>G | CA370315616 | GATA4 | c.1191C>G (p.His397Gln) c.1194C>G (p.His398Gln) n.636C>G c.573C>G (p.His191Gln) c.1188C>G (p.His396Gln) c.447C>G (p.His149Gln) | |
| 8 | g.11758337C>T | CA459314069 | GATA4 | c.1191C>T (p.His397=) c.1194C>T (p.His398=) n.636C>T c.573C>T (p.His191=) c.1188C>T (p.His396=) c.447C>T (p.His149=) | |
| 8 | g.11758338C>A | CA370315617 | GATA4 | c.1192C>A (p.Pro398Thr) c.1195C>A (p.Pro399Thr) n.637C>A c.574C>A (p.Pro192Thr) c.1189C>A (p.Pro397Thr) c.448C>A (p.Pro150Thr) | |
| 8 | g.11758338C>G | CA370315618 | GATA4 | c.1192C>G (p.Pro398Ala) c.1195C>G (p.Pro399Ala) n.637C>G c.574C>G (p.Pro192Ala) c.1189C>G (p.Pro397Ala) c.448C>G (p.Pro150Ala) | |
| 8 | g.11758338C>T | CA370315619 | GATA4 | c.1192C>T (p.Pro398Ser) c.1195C>T (p.Pro399Ser) n.637C>T c.574C>T (p.Pro192Ser) c.1189C>T (p.Pro397Ser) c.448C>T (p.Pro150Ser) | gnomAD v4 |
| 8 | g.11758339C>A | CA370315620 | GATA4 | c.1193C>A (p.Pro398His) c.1196C>A (p.Pro399His) n.638C>A c.575C>A (p.Pro192His) c.1190C>A (p.Pro397His) c.449C>A (p.Pro150His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758339C= | CA1764074139 | GATA4 | c.1193C= (p.Pro398=) c.1196C= (p.Pro399=) n.638C= c.575C= (p.Pro192=) c.1190C= (p.Pro397=) c.449C= (p.Pro150=) | |
| 8 | g.11758339C>G | CA370315621 | GATA4 | c.1193C>G (p.Pro398Arg) c.1196C>G (p.Pro399Arg) n.638C>G c.575C>G (p.Pro192Arg) c.1190C>G (p.Pro397Arg) c.449C>G (p.Pro150Arg) | |
| 8 | g.11758339C>T | CA370315622 | GATA4 | c.1193C>T (p.Pro398Leu) c.1196C>T (p.Pro399Leu) n.638C>T c.575C>T (p.Pro192Leu) c.1190C>T (p.Pro397Leu) c.449C>T (p.Pro150Leu) | |
| 8 | g.11758340T>A | CA459314071 | GATA4 | c.1194T>A (p.Pro398=) c.1197T>A (p.Pro399=) n.639T>A c.576T>A (p.Pro192=) c.1191T>A (p.Pro397=) c.450T>A (p.Pro150=) | |
| 8 | g.11758340T>C | CA459314073 | GATA4 | c.1194T>C (p.Pro398=) c.1197T>C (p.Pro399=) n.639T>C c.576T>C (p.Pro192=) c.1191T>C (p.Pro397=) c.450T>C (p.Pro150=) | |
| 8 | g.11758340T>G | CA459314074 | GATA4 | c.1194T>G (p.Pro398=) c.1197T>G (p.Pro399=) n.639T>G c.576T>G (p.Pro192=) c.1191T>G (p.Pro397=) c.450T>G (p.Pro150=) | dbSNP gnomAD v4 |
| 8 | g.11758341G>A | CA370315623 | GATA4 | c.1195G>A (p.Val399Ile) c.1198G>A (p.Val400Ile) n.640G>A c.577G>A (p.Val193Ile) c.1192G>A (p.Val398Ile) c.451G>A (p.Val151Ile) | |
| 8 | g.11758341G>C | CA172121423 | GATA4 | c.1195G>C (p.Val399Leu) c.1198G>C (p.Val400Leu) n.640G>C c.577G>C (p.Val193Leu) c.1192G>C (p.Val398Leu) c.451G>C (p.Val151Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.11758341G= | CA1764074142 | GATA4 | c.1195G= (p.Val399=) c.1198G= (p.Val400=) n.640G= c.577G= (p.Val193=) c.1192G= (p.Val398=) c.451G= (p.Val151=) | |
| 8 | g.11758341G>T | CA370315624 | GATA4 | c.1195G>T (p.Val399Phe) c.1198G>T (p.Val400Phe) n.640G>T c.577G>T (p.Val193Phe) c.1192G>T (p.Val398Phe) c.451G>T (p.Val151Phe) | ClinVar gnomAD v4 |
| 8 | g.11758342T>A | CA370315627 | GATA4 | c.1196T>A (p.Val399Asp) c.1199T>A (p.Val400Asp) n.641T>A c.578T>A (p.Val193Asp) c.1193T>A (p.Val398Asp) c.452T>A (p.Val151Asp) | |
| 8 | g.11758342T>C | CA370315626 | GATA4 | c.1196T>C (p.Val399Ala) c.1199T>C (p.Val400Ala) n.641T>C c.578T>C (p.Val193Ala) c.1193T>C (p.Val398Ala) c.452T>C (p.Val151Ala) | ClinVar dbSNP gnomAD v4 |
| 8 | g.11758342T>G | CA370315625 | GATA4 | c.1196T>G (p.Val399Gly) c.1199T>G (p.Val400Gly) n.641T>G c.578T>G (p.Val193Gly) c.1193T>G (p.Val398Gly) c.452T>G (p.Val151Gly) | |
| 8 | g.11758343C>A | CA459314078 | GATA4 | c.1197C>A (p.Val399=) c.1200C>A (p.Val400=) n.642C>A c.579C>A (p.Val193=) c.1194C>A (p.Val398=) c.453C>A (p.Val151=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758343C= | CA1764074146 | GATA4 | c.1197C= (p.Val399=) c.1200C= (p.Val400=) n.642C= c.579C= (p.Val193=) c.1194C= (p.Val398=) c.453C= (p.Val151=) | |
| 8 | g.11758343C>G | CA459314079 | GATA4 | c.1197C>G (p.Val399=) c.1200C>G (p.Val400=) n.642C>G c.579C>G (p.Val193=) c.1194C>G (p.Val398=) c.453C>G (p.Val151=) | gnomAD v4 |
| 8 | g.11758343C>T | CA4630886 | GATA4 | c.1197C>T (p.Val399=) c.1200C>T (p.Val400=) n.642C>T c.579C>T (p.Val193=) c.1194C>T (p.Val398=) c.453C>T (p.Val151=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.11758344C>A | CA370315630 | GATA4 | c.1198C>A (p.Leu400Ile) c.1201C>A (p.Leu401Ile) n.643C>A c.580C>A (p.Leu194Ile) c.1195C>A (p.Leu399Ile) c.454C>A (p.Leu152Ile) | |
| 8 | g.11758344C= | CA1764074148 | GATA4 | c.1198C= (p.Leu400=) c.1201C= (p.Leu401=) n.643C= c.580C= (p.Leu194=) c.1195C= (p.Leu399=) c.454C= (p.Leu152=) | |
| 8 | g.11758344C>G | CA370315628 | GATA4 | c.1198C>G (p.Leu400Val) c.1201C>G (p.Leu401Val) n.643C>G c.580C>G (p.Leu194Val) c.1195C>G (p.Leu399Val) c.454C>G (p.Leu152Val) | ClinVar dbSNP gnomAD v4 |
| 8 | g.11758344C>T | CA370315629 | GATA4 | c.1198C>T (p.Leu400Phe) c.1201C>T (p.Leu401Phe) n.643C>T c.580C>T (p.Leu194Phe) c.1195C>T (p.Leu399Phe) c.454C>T (p.Leu152Phe) | |
| 8 | g.11758349_11758363del | CA2686137362 | GATA4 | c.1203_1217del (p.Ala402_Ser406del) c.1206_1220del (p.Ala403_Ser407del) n.648_662del c.585_599del (p.Ala196_Ser200del) c.1200_1214del (p.Ala401_Ser405del) c.459_473del (p.Ala154_Ser158del) | gnomAD v4 |
| 8 | g.11758345T>A | CA370315631 | GATA4 | c.1199T>A (p.Leu400His) c.1202T>A (p.Leu401His) n.644T>A c.581T>A (p.Leu194His) c.1196T>A (p.Leu399His) c.455T>A (p.Leu152His) | |
| 8 | g.11758345T>C | CA370315632 | GATA4 | c.1199T>C (p.Leu400Pro) c.1202T>C (p.Leu401Pro) n.644T>C c.581T>C (p.Leu194Pro) c.1196T>C (p.Leu399Pro) c.455T>C (p.Leu152Pro) | ClinVar |
| 8 | g.11758345T>G | CA370315633 | GATA4 | c.1199T>G (p.Leu400Arg) c.1202T>G (p.Leu401Arg) n.644T>G c.581T>G (p.Leu194Arg) c.1196T>G (p.Leu399Arg) c.455T>G (p.Leu152Arg) | |
| 8 | g.11758346C>A | CA459314082 | GATA4 | c.1200C>A (p.Leu400=) c.1203C>A (p.Leu401=) n.645C>A c.582C>A (p.Leu194=) c.1197C>A (p.Leu399=) c.456C>A (p.Leu152=) | |
| 8 | g.11758346C= | CA1764074152 | GATA4 | c.1200C= (p.Leu400=) c.1203C= (p.Leu401=) n.645C= c.582C= (p.Leu194=) c.1197C= (p.Leu399=) c.456C= (p.Leu152=) | |
| 8 | g.11758346C>G | CA459314081 | GATA4 | c.1200C>G (p.Leu400=) c.1203C>G (p.Leu401=) n.645C>G c.582C>G (p.Leu194=) c.1197C>G (p.Leu399=) c.456C>G (p.Leu152=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11758346C>T | CA459314080 | GATA4 | c.1200C>T (p.Leu400=) c.1203C>T (p.Leu401=) n.645C>T c.582C>T (p.Leu194=) c.1197C>T (p.Leu399=) c.456C>T (p.Leu152=) | |
| 8 | g.11758347T>A | CA370315634 | GATA4 | c.1201T>A (p.Ser401Thr) c.1204T>A (p.Ser402Thr) n.646T>A c.583T>A (p.Ser195Thr) c.1198T>A (p.Ser400Thr) c.457T>A (p.Ser153Thr) | |
| 8 | g.11758347T>C | CA370315635 | GATA4 | c.1201T>C (p.Ser401Pro) c.1204T>C (p.Ser402Pro) n.646T>C c.583T>C (p.Ser195Pro) c.1198T>C (p.Ser400Pro) c.457T>C (p.Ser153Pro) | |
| 8 | g.11758347T>G | CA370315636 | GATA4 | c.1201T>G (p.Ser401Ala) c.1204T>G (p.Ser402Ala) n.646T>G c.583T>G (p.Ser195Ala) c.1198T>G (p.Ser400Ala) c.457T>G (p.Ser153Ala) | |
| 8 | g.11758348C>A | CA370315637 | GATA4 | c.1202C>A (p.Ser401Ter) c.1205C>A (p.Ser402Ter) n.647C>A c.584C>A (p.Ser195Ter) c.1199C>A (p.Ser400Ter) c.458C>A (p.Ser153Ter) | gnomAD v4 |
| 8 | g.11758348C= | CA1764074157 | GATA4 | c.1202C= (p.Ser401=) c.1205C= (p.Ser402=) n.647C= c.584C= (p.Ser195=) c.1199C= (p.Ser400=) c.458C= (p.Ser153=) | |
| 8 | g.11758348C>G | CA370315638 | GATA4 | c.1202C>G (p.Ser401Trp) c.1205C>G (p.Ser402Trp) n.647C>G c.584C>G (p.Ser195Trp) c.1199C>G (p.Ser400Trp) c.458C>G (p.Ser153Trp) | |
| 8 | g.11758348C>T | CA4630887 | GATA4 | c.1202C>T (p.Ser401Leu) c.1205C>T (p.Ser402Leu) n.647C>T c.584C>T (p.Ser195Leu) c.1199C>T (p.Ser400Leu) c.458C>T (p.Ser153Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758349G>A | CA4630888 | GATA4 | c.1203G>A (p.Ser401=) c.1206G>A (p.Ser402=) n.648G>A c.585G>A (p.Ser195=) c.1200G>A (p.Ser400=) c.459G>A (p.Ser153=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758349G>C | CA459314087 | GATA4 | c.1203G>C (p.Ser401=) c.1206G>C (p.Ser402=) n.648G>C c.585G>C (p.Ser195=) c.1200G>C (p.Ser400=) c.459G>C (p.Ser153=) | ClinVar gnomAD v4 |
| 8 | g.11758349G= | CA1764074166 | GATA4 | c.1203G= (p.Ser401=) c.1206G= (p.Ser402=) n.648G= c.585G= (p.Ser195=) c.1200G= (p.Ser400=) c.459G= (p.Ser153=) | |
| 8 | g.11758349G>T | CA459314088 | GATA4 | c.1203G>T (p.Ser401=) c.1206G>T (p.Ser402=) n.648G>T c.585G>T (p.Ser195=) c.1200G>T (p.Ser400=) c.459G>T (p.Ser153=) | |
| 8 | g.11758349_11758350insCCAATCTGTGGTATTCTGTTATG | CA1764074165 | GATA4 | c.1203_1204insCCAATCTGTGGTATTCTGTTATG (p.Ala402ProfsTer10) c.1206_1207insCCAATCTGTGGTATTCTGTTATG (p.Ala403ProfsTer10) n.648_649insCCAATCTGTGGTATTCTGTTATG c.585_586insCCAATCTGTGGTATTCTGTTATG (p.Ala196ProfsTer10) c.1200_1201insCCAATCTGTGGTATTCTGTTATG (p.Ala401ProfsTer10) c.459_460insCCAATCTGTGGTATTCTGTTATG (p.Ala154ProfsTer10) | dbSNP |
| 8 | g.11758350G>A | CA370315641 | GATA4 | c.1204G>A (p.Ala402Thr) c.1207G>A (p.Ala403Thr) n.649G>A c.586G>A (p.Ala196Thr) c.1201G>A (p.Ala401Thr) c.460G>A (p.Ala154Thr) | gnomAD v4 |
| 8 | g.11758350G>C | CA370315639 | GATA4 | c.1204G>C (p.Ala402Pro) c.1207G>C (p.Ala403Pro) n.649G>C c.586G>C (p.Ala196Pro) c.1201G>C (p.Ala401Pro) c.460G>C (p.Ala154Pro) | |
| 8 | g.11758350G>T | CA370315640 | GATA4 | c.1204G>T (p.Ala402Ser) c.1207G>T (p.Ala403Ser) n.649G>T c.586G>T (p.Ala196Ser) c.1201G>T (p.Ala401Ser) c.460G>T (p.Ala154Ser) | |
| 8 | g.11758350_11758351delinsGC | CA1764074171 | GATA4 | c.1204_1205delinsGC (p.Ala402=) c.1207_1208delinsGC (p.Ala403=) n.649_650delinsGC c.586_587delinsGC (p.Ala196=) c.1201_1202delinsGC (p.Ala401=) c.460_461delinsGC (p.Ala154=) | |
| 8 | g.11758351C>A | CA370315642 | GATA4 | c.1205C>A (p.Ala402Asp) c.1208C>A (p.Ala403Asp) n.650C>A c.587C>A (p.Ala196Asp) c.1202C>A (p.Ala401Asp) c.461C>A (p.Ala154Asp) | ClinVar dbSNP |
| 8 | g.11758351C= | CA1764074175 | GATA4 | c.1205C= (p.Ala402=) c.1208C= (p.Ala403=) n.650C= c.587C= (p.Ala196=) c.1202C= (p.Ala401=) c.461C= (p.Ala154=) | |
| 8 | g.11758351C>G | CA370315643 | GATA4 | c.1205C>G (p.Ala402Gly) c.1208C>G (p.Ala403Gly) n.650C>G c.587C>G (p.Ala196Gly) c.1202C>G (p.Ala401Gly) c.461C>G (p.Ala154Gly) | |
| 8 | g.11758351C>T | CA370315644 | GATA4 | c.1205C>T (p.Ala402Val) c.1208C>T (p.Ala403Val) n.650C>T c.587C>T (p.Ala196Val) c.1202C>T (p.Ala401Val) c.461C>T (p.Ala154Val) | |
| 8 | g.11758353del | CA580031741 | GATA4 | c.1207del (p.Leu403Ter) c.1210del (p.Leu404Ter) n.652del c.589del (p.Leu197Ter) c.1204del (p.Leu402Ter) c.463del (p.Leu155Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11758351_11758352insACCAGCTTTAGCGAACTAATACA | CA1764074178 | GATA4 | c.1205_1206insACCAGCTTTAGCGAACTAATACA (p.Leu403ProfsTer6) c.1208_1209insACCAGCTTTAGCGAACTAATACA (p.Leu404ProfsTer6) n.650_651insACCAGCTTTAGCGAACTAATACA c.587_588insACCAGCTTTAGCGAACTAATACA (p.Leu197ProfsTer6) c.1202_1203insACCAGCTTTAGCGAACTAATACA (p.Leu402ProfsTer6) c.461_462insACCAGCTTTAGCGAACTAATACA (p.Leu155ProfsTer6) | dbSNP |
| 8 | g.11758352C>A | CA459314091 | GATA4 | c.1206C>A (p.Ala402=) c.1209C>A (p.Ala403=) n.651C>A c.588C>A (p.Ala196=) c.1203C>A (p.Ala401=) c.462C>A (p.Ala154=) | |
| 8 | g.11758352C>G | CA459314092 | GATA4 | c.1206C>G (p.Ala402=) c.1209C>G (p.Ala403=) n.651C>G c.588C>G (p.Ala196=) c.1203C>G (p.Ala401=) c.462C>G (p.Ala154=) | |
| 8 | g.11758352C>T | CA459314093 | GATA4 | c.1206C>T (p.Ala402=) c.1209C>T (p.Ala403=) n.651C>T c.588C>T (p.Ala196=) c.1203C>T (p.Ala401=) c.462C>T (p.Ala154=) | ClinVar dbSNP |
| 8 | g.11758353C>A | CA4630889 | GATA4 | c.1207C>A (p.Leu403Met) c.1210C>A (p.Leu404Met) n.652C>A c.589C>A (p.Leu197Met) c.1204C>A (p.Leu402Met) c.463C>A (p.Leu155Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758353C= | CA1764074181 | GATA4 | c.1207C= (p.Leu403=) c.1210C= (p.Leu404=) n.652C= c.589C= (p.Leu197=) c.1204C= (p.Leu402=) c.463C= (p.Leu155=) | |
| 8 | g.11758353C>G | CA370315645 | GATA4 | c.1207C>G (p.Leu403Val) c.1210C>G (p.Leu404Val) n.652C>G c.589C>G (p.Leu197Val) c.1204C>G (p.Leu402Val) c.463C>G (p.Leu155Val) | ClinVar gnomAD v4 |
| 8 | g.11758353C>T | CA459314094 | GATA4 | c.1207C>T (p.Leu403=) c.1210C>T (p.Leu404=) n.652C>T c.589C>T (p.Leu197=) c.1204C>T (p.Leu402=) c.463C>T (p.Leu155=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758354T>A | CA370315646 | GATA4 | c.1208T>A (p.Leu403Gln) c.1211T>A (p.Leu404Gln) n.653T>A c.590T>A (p.Leu197Gln) c.1205T>A (p.Leu402Gln) c.464T>A (p.Leu155Gln) | |
| 8 | g.11758354T>C | CA370315647 | GATA4 | c.1208T>C (p.Leu403Pro) c.1211T>C (p.Leu404Pro) n.653T>C c.590T>C (p.Leu197Pro) c.1205T>C (p.Leu402Pro) c.464T>C (p.Leu155Pro) | |
| 8 | g.11758354T>G | CA370315648 | GATA4 | c.1208T>G (p.Leu403Arg) c.1211T>G (p.Leu404Arg) n.653T>G c.590T>G (p.Leu197Arg) c.1205T>G (p.Leu402Arg) c.464T>G (p.Leu155Arg) | |
| 8 | g.11758355G>A | CA459314098 | GATA4 | c.1209G>A (p.Leu403=) c.1212G>A (p.Leu404=) n.654G>A c.591G>A (p.Leu197=) c.1206G>A (p.Leu402=) c.465G>A (p.Leu155=) | gnomAD v4 |
| 8 | g.11758355G>C | CA459314099 | GATA4 | c.1209G>C (p.Leu403=) c.1212G>C (p.Leu404=) n.654G>C c.591G>C (p.Leu197=) c.1206G>C (p.Leu402=) c.465G>C (p.Leu155=) | |
| 8 | g.11758355G>T | CA459314100 | GATA4 | c.1209G>T (p.Leu403=) c.1212G>T (p.Leu404=) n.654G>T c.591G>T (p.Leu197=) c.1206G>T (p.Leu402=) c.465G>T (p.Leu155=) | |
| 8 | g.11758356A>C | CA370315649 | GATA4 | c.1210A>C (p.Lys404Gln) c.1213A>C (p.Lys405Gln) n.655A>C c.592A>C (p.Lys198Gln) c.1207A>C (p.Lys403Gln) c.466A>C (p.Lys156Gln) | |
| 8 | g.11758356A>G | CA370315650 | GATA4 | c.1210A>G (p.Lys404Glu) c.1213A>G (p.Lys405Glu) n.655A>G c.592A>G (p.Lys198Glu) c.1207A>G (p.Lys403Glu) c.466A>G (p.Lys156Glu) | |
| 8 | g.11758356A>T | CA370315651 | GATA4 | c.1210A>T (p.Lys404Ter) c.1213A>T (p.Lys405Ter) n.655A>T c.592A>T (p.Lys198Ter) c.1207A>T (p.Lys403Ter) c.466A>T (p.Lys156Ter) | |
| 8 | g.11758357A>C | CA370315653 | GATA4 | c.1211A>C (p.Lys404Thr) c.1214A>C (p.Lys405Thr) n.656A>C c.593A>C (p.Lys198Thr) c.1208A>C (p.Lys403Thr) c.467A>C (p.Lys156Thr) | |
| 8 | g.11758357A>G | CA370315654 | GATA4 | c.1211A>G (p.Lys404Arg) c.1214A>G (p.Lys405Arg) n.656A>G c.593A>G (p.Lys198Arg) c.1208A>G (p.Lys403Arg) c.467A>G (p.Lys156Arg) | |
| 8 | g.11758357A>T | CA370315652 | GATA4 | c.1211A>T (p.Lys404Met) c.1214A>T (p.Lys405Met) n.656A>T c.593A>T (p.Lys198Met) c.1208A>T (p.Lys403Met) c.467A>T (p.Lys156Met) | |
| 8 | g.11758358G>A | CA172121437 | GATA4 | c.1212G>A (p.Lys404=) c.1215G>A (p.Lys405=) n.657G>A c.594G>A (p.Lys198=) c.1209G>A (p.Lys403=) c.468G>A (p.Lys156=) | dbSNP |
| 8 | g.11758358G>C | CA370315655 | GATA4 | c.1212G>C (p.Lys404Asn) c.1215G>C (p.Lys405Asn) n.657G>C c.594G>C (p.Lys198Asn) c.1209G>C (p.Lys403Asn) c.468G>C (p.Lys156Asn) | |
| 8 | g.11758358G= | CA1764074183 | GATA4 | c.1212G= (p.Lys404=) c.1215G= (p.Lys405=) n.657G= c.594G= (p.Lys198=) c.1209G= (p.Lys403=) c.468G= (p.Lys156=) | |
| 8 | g.11758358G>T | CA370315656 | GATA4 | c.1212G>T (p.Lys404Asn) c.1215G>T (p.Lys405Asn) n.657G>T c.594G>T (p.Lys198Asn) c.1209G>T (p.Lys403Asn) c.468G>T (p.Lys156Asn) | |
| 8 | g.11758359C>A | CA370315657 | GATA4 | c.1213C>A (p.Leu405Ile) c.1216C>A (p.Leu406Ile) n.658C>A c.595C>A (p.Leu199Ile) c.1210C>A (p.Leu404Ile) c.469C>A (p.Leu157Ile) | |
| 8 | g.11758359C>G | CA370315658 | GATA4 | c.1213C>G (p.Leu405Val) c.1216C>G (p.Leu406Val) n.658C>G c.595C>G (p.Leu199Val) c.1210C>G (p.Leu404Val) c.469C>G (p.Leu157Val) | |
| 8 | g.11758359C>T | CA370315659 | GATA4 | c.1213C>T (p.Leu405Phe) c.1216C>T (p.Leu406Phe) n.658C>T c.595C>T (p.Leu199Phe) c.1210C>T (p.Leu404Phe) c.469C>T (p.Leu157Phe) | gnomAD v4 |
| 8 | g.11758360T>A | CA370315660 | GATA4 | c.1214T>A (p.Leu405His) c.1217T>A (p.Leu406His) n.659T>A c.596T>A (p.Leu199His) c.1211T>A (p.Leu404His) c.470T>A (p.Leu157His) | |
| 8 | g.11758360T>C | CA370315661 | GATA4 | c.1214T>C (p.Leu405Pro) c.1217T>C (p.Leu406Pro) n.659T>C c.596T>C (p.Leu199Pro) c.1211T>C (p.Leu404Pro) c.470T>C (p.Leu157Pro) | |
| 8 | g.11758360T>G | CA370315662 | GATA4 | c.1214T>G (p.Leu405Arg) c.1217T>G (p.Leu406Arg) n.659T>G c.596T>G (p.Leu199Arg) c.1211T>G (p.Leu404Arg) c.470T>G (p.Leu157Arg) | |
| 8 | g.11758361C>A | CA459314105 | GATA4 | c.1215C>A (p.Leu405=) c.1218C>A (p.Leu406=) n.660C>A c.597C>A (p.Leu199=) c.1212C>A (p.Leu404=) c.471C>A (p.Leu157=) | |
| 8 | g.11758361C= | CA1764074185 | GATA4 | c.1215C= (p.Leu405=) c.1218C= (p.Leu406=) n.660C= c.597C= (p.Leu199=) c.1212C= (p.Leu404=) c.471C= (p.Leu157=) | |
| 8 | g.11758361C>G | CA459314106 | GATA4 | c.1215C>G (p.Leu405=) c.1218C>G (p.Leu406=) n.660C>G c.597C>G (p.Leu199=) c.1212C>G (p.Leu404=) c.471C>G (p.Leu157=) | |
| 8 | g.11758361C>T | CA4630890 | GATA4 | c.1215C>T (p.Leu405=) c.1218C>T (p.Leu406=) n.660C>T c.597C>T (p.Leu199=) c.1212C>T (p.Leu404=) c.471C>T (p.Leu157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758362T>A | CA370315663 | GATA4 | c.1216T>A (p.Ser406Thr) c.1219T>A (p.Ser407Thr) n.661T>A c.598T>A (p.Ser200Thr) c.1213T>A (p.Ser405Thr) c.472T>A (p.Ser158Thr) | |
| 8 | g.11758362T>C | CA370315664 | GATA4 | c.1216T>C (p.Ser406Pro) c.1219T>C (p.Ser407Pro) n.661T>C c.598T>C (p.Ser200Pro) c.1213T>C (p.Ser405Pro) c.472T>C (p.Ser158Pro) | |
| 8 | g.11758362T>G | CA370315665 | GATA4 | c.1216T>G (p.Ser406Ala) c.1219T>G (p.Ser407Ala) n.661T>G c.598T>G (p.Ser200Ala) c.1213T>G (p.Ser405Ala) c.472T>G (p.Ser158Ala) | |
| 8 | g.11758363C>A | CA370315668 | GATA4 | c.1217C>A (p.Ser406Tyr) c.1220C>A (p.Ser407Tyr) n.662C>A c.599C>A (p.Ser200Tyr) c.1214C>A (p.Ser405Tyr) c.473C>A (p.Ser158Tyr) | |
| 8 | g.11758363C>G | CA370315667 | GATA4 | c.1217C>G (p.Ser406Cys) c.1220C>G (p.Ser407Cys) n.662C>G c.599C>G (p.Ser200Cys) c.1214C>G (p.Ser405Cys) c.473C>G (p.Ser158Cys) | |
| 8 | g.11758363C>T | CA370315666 | GATA4 | c.1217C>T (p.Ser406Phe) c.1220C>T (p.Ser407Phe) n.662C>T c.599C>T (p.Ser200Phe) c.1214C>T (p.Ser405Phe) c.473C>T (p.Ser158Phe) | |
| 8 | g.11758364C>A | CA459314110 | GATA4 | c.1218C>A (p.Ser406=) c.1221C>A (p.Ser407=) n.663C>A c.600C>A (p.Ser200=) c.1215C>A (p.Ser405=) c.474C>A (p.Ser158=) | |
| 8 | g.11758364C>G | CA459314111 | GATA4 | c.1218C>G (p.Ser406=) c.1221C>G (p.Ser407=) n.663C>G c.600C>G (p.Ser200=) c.1215C>G (p.Ser405=) c.474C>G (p.Ser158=) | ClinVar dbSNP |
| 8 | g.11758364C>T | CA459314112 | GATA4 | c.1218C>T (p.Ser406=) c.1221C>T (p.Ser407=) n.663C>T c.600C>T (p.Ser200=) c.1215C>T (p.Ser405=) c.474C>T (p.Ser158=) | |
| 8 | g.11758365C>A | CA370315669 | GATA4 | c.1219C>A (p.Pro407Thr) c.1222C>A (p.Pro408Thr) n.664C>A c.601C>A (p.Pro201Thr) c.1216C>A (p.Pro406Thr) c.475C>A (p.Pro159Thr) | |
| 8 | g.11758365C= | CA1764074191 | GATA4 | c.1219C= (p.Pro407=) c.1222C= (p.Pro408=) n.664C= c.601C= (p.Pro201=) c.1216C= (p.Pro406=) c.475C= (p.Pro159=) | |
| 8 | g.11758365C>G | CA370315670 | GATA4 | c.1219C>G (p.Pro407Ala) c.1222C>G (p.Pro408Ala) n.664C>G c.601C>G (p.Pro201Ala) c.1216C>G (p.Pro406Ala) c.475C>G (p.Pro159Ala) | ClinVar dbSNP |
| 8 | g.11758365C>T | CA370315671 | GATA4 | c.1219C>T (p.Pro407Ser) c.1222C>T (p.Pro408Ser) n.664C>T c.601C>T (p.Pro201Ser) c.1216C>T (p.Pro406Ser) c.475C>T (p.Pro159Ser) | dbSNP |
| 8 | g.11758366C>A | CA212683 | GATA4 | c.1220C>A (p.Pro407Gln) c.1223C>A (p.Pro408Gln) n.665C>A c.602C>A (p.Pro201Gln) c.1217C>A (p.Pro406Gln) c.476C>A (p.Pro159Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758366C= | CA1764074197 | GATA4 | c.1220C= (p.Pro407=) c.1223C= (p.Pro408=) n.665C= c.602C= (p.Pro201=) c.1217C= (p.Pro406=) c.476C= (p.Pro159=) | |
| 8 | g.11758366C>G | CA4630891 | GATA4 | c.1220C>G (p.Pro407Arg) c.1223C>G (p.Pro408Arg) n.665C>G c.602C>G (p.Pro201Arg) c.1217C>G (p.Pro406Arg) c.476C>G (p.Pro159Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758366C>T | CA370315672 | GATA4 | c.1220C>T (p.Pro407Leu) c.1223C>T (p.Pro408Leu) n.665C>T c.602C>T (p.Pro201Leu) c.1217C>T (p.Pro406Leu) c.476C>T (p.Pro159Leu) | |
| 8 | g.11758367A= | CA1764074204 | GATA4 | c.1221A= (p.Pro407=) c.1224A= (p.Pro408=) n.666A= c.603A= (p.Pro201=) c.1218A= (p.Pro406=) c.477A= (p.Pro159=) | |
| 8 | g.11758367A>C | CA4630892 | GATA4 | c.1221A>C (p.Pro407=) c.1224A>C (p.Pro408=) n.666A>C c.603A>C (p.Pro201=) c.1218A>C (p.Pro406=) c.477A>C (p.Pro159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758367A>G | CA459314117 | GATA4 | c.1221A>G (p.Pro407=) c.1224A>G (p.Pro408=) n.666A>G c.603A>G (p.Pro201=) c.1218A>G (p.Pro406=) c.477A>G (p.Pro159=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.11758367A>T | CA459314116 | GATA4 | c.1221A>T (p.Pro407=) c.1224A>T (p.Pro408=) n.666A>T c.603A>T (p.Pro201=) c.1218A>T (p.Pro406=) c.477A>T (p.Pro159=) | |
| 8 | g.11758368C>A | CA370315673 | GATA4 | c.1222C>A (p.Gln408Lys) c.1225C>A (p.Gln409Lys) n.667C>A c.604C>A (p.Gln202Lys) c.1219C>A (p.Gln407Lys) c.478C>A (p.Gln160Lys) | |
| 8 | g.11758368C= | CA1764074209 | GATA4 | c.1222C= (p.Gln408=) c.1225C= (p.Gln409=) n.667C= c.604C= (p.Gln202=) c.1219C= (p.Gln407=) c.478C= (p.Gln160=) | |
| 8 | g.11758368C>G | CA370315674 | GATA4 | c.1222C>G (p.Gln408Glu) c.1225C>G (p.Gln409Glu) n.667C>G c.604C>G (p.Gln202Glu) c.1219C>G (p.Gln407Glu) c.478C>G (p.Gln160Glu) | |
| 8 | g.11758368C>T | CA370315675 | GATA4 | c.1222C>T (p.Gln408Ter) c.1225C>T (p.Gln409Ter) n.667C>T c.604C>T (p.Gln202Ter) c.1219C>T (p.Gln407Ter) c.478C>T (p.Gln160Ter) | ClinVar dbSNP |
| 8 | g.11758369A>C | CA370315676 | GATA4 | c.1223A>C (p.Gln408Pro) c.1226A>C (p.Gln409Pro) n.668A>C c.605A>C (p.Gln202Pro) c.1220A>C (p.Gln407Pro) c.479A>C (p.Gln160Pro) | |
| 8 | g.11758369A>G | CA370315677 | GATA4 | c.1223A>G (p.Gln408Arg) c.1226A>G (p.Gln409Arg) n.668A>G c.605A>G (p.Gln202Arg) c.1220A>G (p.Gln407Arg) c.479A>G (p.Gln160Arg) | |
| 8 | g.11758369A>T | CA370315678 | GATA4 | c.1223A>T (p.Gln408Leu) c.1226A>T (p.Gln409Leu) n.668A>T c.605A>T (p.Gln202Leu) c.1220A>T (p.Gln407Leu) c.479A>T (p.Gln160Leu) | |
| 8 | g.11758370A>C | CA370315680 | GATA4 | c.1224A>C (p.Gln408His) c.1227A>C (p.Gln409His) n.669A>C c.606A>C (p.Gln202His) c.1221A>C (p.Gln407His) c.480A>C (p.Gln160His) | |
| 8 | g.11758370A>G | CA459314118 | GATA4 | c.1224A>G (p.Gln408=) c.1227A>G (p.Gln409=) n.669A>G c.606A>G (p.Gln202=) c.1221A>G (p.Gln407=) c.480A>G (p.Gln160=) | |
| 8 | g.11758370A>T | CA370315679 | GATA4 | c.1224A>T (p.Gln408His) c.1227A>T (p.Gln409His) n.669A>T c.606A>T (p.Gln202His) c.1221A>T (p.Gln407His) c.480A>T (p.Gln160His) | |
| 8 | g.11758371G>A | CA370315681 | GATA4 | c.1225G>A (p.Gly409Ser) c.1228G>A (p.Gly410Ser) n.670G>A c.607G>A (p.Gly203Ser) c.1222G>A (p.Gly408Ser) c.481G>A (p.Gly161Ser) | |
| 8 | g.11758371G>C | CA370315683 | GATA4 | c.1225G>C (p.Gly409Arg) c.1228G>C (p.Gly410Arg) n.670G>C c.607G>C (p.Gly203Arg) c.1222G>C (p.Gly408Arg) c.481G>C (p.Gly161Arg) | gnomAD v4 |
| 8 | g.11758371G>T | CA370315682 | GATA4 | c.1225G>T (p.Gly409Cys) c.1228G>T (p.Gly410Cys) n.670G>T c.607G>T (p.Gly203Cys) c.1222G>T (p.Gly408Cys) c.481G>T (p.Gly161Cys) | |
| 8 | g.11758372G>A | CA370315684 | GATA4 | c.1226G>A (p.Gly409Asp) c.1229G>A (p.Gly410Asp) n.671G>A c.608G>A (p.Gly203Asp) c.1223G>A (p.Gly408Asp) c.482G>A (p.Gly161Asp) | gnomAD v4 |
| 8 | g.11758372G>C | CA370315686 | GATA4 | c.1226G>C (p.Gly409Ala) c.1229G>C (p.Gly410Ala) n.671G>C c.608G>C (p.Gly203Ala) c.1223G>C (p.Gly408Ala) c.482G>C (p.Gly161Ala) | gnomAD v4 |
| 8 | g.11758372G>T | CA370315685 | GATA4 | c.1226G>T (p.Gly409Val) c.1229G>T (p.Gly410Val) n.671G>T c.608G>T (p.Gly203Val) c.1223G>T (p.Gly408Val) c.482G>T (p.Gly161Val) | |
| 8 | g.11758373C>A | CA459314120 | GATA4 | c.1227C>A (p.Gly409=) c.1230C>A (p.Gly410=) n.672C>A c.609C>A (p.Gly203=) c.1224C>A (p.Gly408=) c.483C>A (p.Gly161=) | |
| 8 | g.11758373C>G | CA459314122 | GATA4 | c.1227C>G (p.Gly409=) c.1230C>G (p.Gly410=) n.672C>G c.609C>G (p.Gly203=) c.1224C>G (p.Gly408=) c.483C>G (p.Gly161=) | |
| 8 | g.11758373C>T | CA459314121 | GATA4 | c.1227C>T (p.Gly409=) c.1230C>T (p.Gly410=) n.672C>T c.609C>T (p.Gly203=) c.1224C>T (p.Gly408=) c.483C>T (p.Gly161=) | gnomAD v4 |
| 8 | g.11758374T>A | CA370315687 | GATA4 | c.1228T>A (p.Tyr410Asn) c.1231T>A (p.Tyr411Asn) n.673T>A c.610T>A (p.Tyr204Asn) c.1225T>A (p.Tyr409Asn) c.484T>A (p.Tyr162Asn) | |
| 8 | g.11758374T>C | CA4630893 | GATA4 | c.1228T>C (p.Tyr410His) c.1231T>C (p.Tyr411His) n.673T>C c.610T>C (p.Tyr204His) c.1225T>C (p.Tyr409His) c.484T>C (p.Tyr162His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758374T>G | CA370315688 | GATA4 | c.1228T>G (p.Tyr410Asp) c.1231T>G (p.Tyr411Asp) n.673T>G c.610T>G (p.Tyr204Asp) c.1225T>G (p.Tyr409Asp) c.484T>G (p.Tyr162Asp) | |
| 8 | g.11758374T= | CA1764074213 | GATA4 | c.1228T= (p.Tyr410=) c.1231T= (p.Tyr411=) n.673T= c.610T= (p.Tyr204=) c.1225T= (p.Tyr409=) c.484T= (p.Tyr162=) | |
| 8 | g.11758375A= | CA1764074223 | GATA4 | c.1229A= (p.Tyr410=) c.1232A= (p.Tyr411=) n.674A= c.611A= (p.Tyr204=) c.1226A= (p.Tyr409=) c.485A= (p.Tyr162=) | |
| 8 | g.11758375A>C | CA370315689 | GATA4 | c.1229A>C (p.Tyr410Ser) c.1232A>C (p.Tyr411Ser) n.674A>C c.611A>C (p.Tyr204Ser) c.1226A>C (p.Tyr409Ser) c.485A>C (p.Tyr162Ser) | |
| 8 | g.11758375A>G | CA370315690 | GATA4 | c.1229A>G (p.Tyr410Cys) c.1232A>G (p.Tyr411Cys) n.674A>G c.611A>G (p.Tyr204Cys) c.1226A>G (p.Tyr409Cys) c.485A>G (p.Tyr162Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758375A>T | CA172121445 | GATA4 | c.1229A>T (p.Tyr410Phe) c.1232A>T (p.Tyr411Phe) n.674A>T c.611A>T (p.Tyr204Phe) c.1226A>T (p.Tyr409Phe) c.485A>T (p.Tyr162Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758376T>A | CA370315691 | GATA4 | c.1230T>A (p.Tyr410Ter) c.1233T>A (p.Tyr411Ter) n.675T>A c.612T>A (p.Tyr204Ter) c.1227T>A (p.Tyr409Ter) c.486T>A (p.Tyr162Ter) | |
| 8 | g.11758376T>C | CA459314128 | GATA4 | c.1230T>C (p.Tyr410=) c.1233T>C (p.Tyr411=) n.675T>C c.612T>C (p.Tyr204=) c.1227T>C (p.Tyr409=) c.486T>C (p.Tyr162=) | gnomAD v4 |
| 8 | g.11758376T>G | CA370315692 | GATA4 | c.1230T>G (p.Tyr410Ter) c.1233T>G (p.Tyr411Ter) n.675T>G c.612T>G (p.Tyr204Ter) c.1227T>G (p.Tyr409Ter) c.486T>G (p.Tyr162Ter) | |
| 8 | g.11758377G>A | CA370315693 | GATA4 | c.1231G>A (p.Ala411Thr) c.1234G>A (p.Ala412Thr) n.676G>A c.613G>A (p.Ala205Thr) c.1228G>A (p.Ala410Thr) c.487G>A (p.Ala163Thr) | |
| 8 | g.11758377G>C | CA370315694 | GATA4 | c.1231G>C (p.Ala411Pro) c.1234G>C (p.Ala412Pro) n.676G>C c.613G>C (p.Ala205Pro) c.1228G>C (p.Ala410Pro) c.487G>C (p.Ala163Pro) | |
| 8 | g.11758377G>T | CA370315695 | GATA4 | c.1231G>T (p.Ala411Ser) c.1234G>T (p.Ala412Ser) n.676G>T c.613G>T (p.Ala205Ser) c.1228G>T (p.Ala410Ser) c.487G>T (p.Ala163Ser) | |
| 8 | g.11758378C>A | CA370315696 | GATA4 | c.1232C>A (p.Ala411Glu) c.1235C>A (p.Ala412Glu) n.677C>A c.614C>A (p.Ala205Glu) c.1229C>A (p.Ala410Glu) c.488C>A (p.Ala163Glu) | |
| 8 | g.11758378C= | CA1764074232 | GATA4 | c.1232C= (p.Ala411=) c.1235C= (p.Ala412=) n.677C= c.614C= (p.Ala205=) c.1229C= (p.Ala410=) c.488C= (p.Ala163=) | |
| 8 | g.11758378C>G | CA370315697 | GATA4 | c.1232C>G (p.Ala411Gly) c.1235C>G (p.Ala412Gly) n.677C>G c.614C>G (p.Ala205Gly) c.1229C>G (p.Ala410Gly) c.488C>G (p.Ala163Gly) | |
| 8 | g.11758378C>T | CA4630894 | GATA4 | c.1232C>T (p.Ala411Val) c.1235C>T (p.Ala412Val) n.677C>T c.614C>T (p.Ala205Val) c.1229C>T (p.Ala410Val) c.488C>T (p.Ala163Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758379G>A | CA4630895 | GATA4 | c.1233G>A (p.Ala411=) c.1236G>A (p.Ala412=) n.678G>A c.615G>A (p.Ala205=) c.1230G>A (p.Ala410=) c.489G>A (p.Ala163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758379G>C | CA459314135 | GATA4 | c.1233G>C (p.Ala411=) c.1236G>C (p.Ala412=) n.678G>C c.615G>C (p.Ala205=) c.1230G>C (p.Ala410=) c.489G>C (p.Ala163=) | |
| 8 | g.11758379G= | CA1764074237 | GATA4 | c.1233G= (p.Ala411=) c.1236G= (p.Ala412=) n.678G= c.615G= (p.Ala205=) c.1230G= (p.Ala410=) c.489G= (p.Ala163=) | |
| 8 | g.11758379G>T | CA459314137 | GATA4 | c.1233G>T (p.Ala411=) c.1236G>T (p.Ala412=) n.678G>T c.615G>T (p.Ala205=) c.1230G>T (p.Ala410=) c.489G>T (p.Ala163=) | gnomAD v4 |
| 8 | g.11758380del | CA2579823151 | GATA4 | c.1234del (p.Ser412LeufsTer28) c.1237del (p.Ser413LeufsTer28) n.679del c.616del (p.Ser206LeufsTer28) c.1231del (p.Ser411LeufsTer28) c.490del (p.Ser164LeufsTer28) | |
| 8 | g.11758380T>A | CA370315698 | GATA4 | c.1234T>A (p.Ser412Thr) c.1237T>A (p.Ser413Thr) n.679T>A c.616T>A (p.Ser206Thr) c.1231T>A (p.Ser411Thr) c.490T>A (p.Ser164Thr) | |
| 8 | g.11758380T>C | CA370315699 | GATA4 | c.1234T>C (p.Ser412Pro) c.1237T>C (p.Ser413Pro) n.679T>C c.616T>C (p.Ser206Pro) c.1231T>C (p.Ser411Pro) c.490T>C (p.Ser164Pro) | |
| 8 | g.11758380T>G | CA370315700 | GATA4 | c.1234T>G (p.Ser412Ala) c.1237T>G (p.Ser413Ala) n.679T>G c.616T>G (p.Ser206Ala) c.1231T>G (p.Ser411Ala) c.490T>G (p.Ser164Ala) | |
| 8 | g.11758381C>A | CA370315701 | GATA4 | c.1235C>A (p.Ser412Tyr) c.1238C>A (p.Ser413Tyr) n.680C>A c.617C>A (p.Ser206Tyr) c.1232C>A (p.Ser411Tyr) c.491C>A (p.Ser164Tyr) | |
| 8 | g.11758381C= | CA1764074243 | GATA4 | c.1235C= (p.Ser412=) c.1238C= (p.Ser413=) n.680C= c.617C= (p.Ser206=) c.1232C= (p.Ser411=) c.491C= (p.Ser164=) | |
| 8 | g.11758381C>G | CA4630896 | GATA4 | c.1235C>G (p.Ser412Cys) c.1238C>G (p.Ser413Cys) n.680C>G c.617C>G (p.Ser206Cys) c.1232C>G (p.Ser411Cys) c.491C>G (p.Ser164Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758381C>T | CA370315702 | GATA4 | c.1235C>T (p.Ser412Phe) c.1238C>T (p.Ser413Phe) n.680C>T c.617C>T (p.Ser206Phe) c.1232C>T (p.Ser411Phe) c.491C>T (p.Ser164Phe) | |
| 8 | g.11758382_11758391del | CA2695208951 | GATA4 | c.1236_1245del (p.Pro413SerfsTer24) c.1239_1248del (p.Pro414SerfsTer24) n.681_690del c.618_627del (p.Pro207SerfsTer24) c.1233_1242del (p.Pro412SerfsTer24) c.492_501del (p.Pro165SerfsTer24) |