Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.11757011_11757012delinsCG | CA1764072461 | GATA4 | c.1074_1075delinsCG (p.Ser358=) c.1077_1078delinsCG (p.Ser359=) n.519_520delinsCG c.456_457delinsCG (p.Ser152=) c.1071_1072delinsCG (p.Ser357=) c.330_331delinsCG (p.Ser110=) | |
8 | g.11757012del | CA913184949 | GATA4 | c.1075del (p.Glu359ArgfsTer?) c.1078del (p.Glu360ArgfsTer?) n.520del c.457del (p.Glu153ArgfsTer?) c.1072del (p.Glu358ArgfsTer?) c.331del (p.Glu111ArgfsTer?) | ClinVar dbSNP |
8 | g.11757012G>A | CA212671 | GATA4 | c.1075G>A (p.Glu359Lys) c.1078G>A (p.Glu360Lys) n.520G>A c.457G>A (p.Glu153Lys) c.1072G>A (p.Glu358Lys) c.331G>A (p.Glu111Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757012G>C | CA370315369 | GATA4 | c.1075G>C (p.Glu359Gln) c.1078G>C (p.Glu360Gln) n.520G>C c.457G>C (p.Glu153Gln) c.1072G>C (p.Glu358Gln) c.331G>C (p.Glu111Gln) | |
8 | g.11757012G= | CA1764072470 | GATA4 | c.1075G= (p.Glu359=) c.1078G= (p.Glu360=) n.520G= c.457G= (p.Glu153=) c.1072G= (p.Glu358=) c.331G= (p.Glu111=) | |
8 | g.11757012G>T | CA370315370 | GATA4 | c.1075G>T (p.Glu359Ter) c.1078G>T (p.Glu360Ter) n.520G>T c.457G>T (p.Glu153Ter) c.1072G>T (p.Glu358Ter) c.331G>T (p.Glu111Ter) | ClinVar dbSNP |
8 | g.11757013A>C | CA370315373 | GATA4 | c.1076A>C (p.Glu359Ala) c.1079A>C (p.Glu360Ala) n.521A>C c.458A>C (p.Glu153Ala) c.1073A>C (p.Glu358Ala) c.332A>C (p.Glu111Ala) | |
8 | g.11757013A>G | CA370315371 | GATA4 | c.1076A>G (p.Glu359Gly) c.1079A>G (p.Glu360Gly) n.521A>G c.458A>G (p.Glu153Gly) c.1073A>G (p.Glu358Gly) c.332A>G (p.Glu111Gly) | |
8 | g.11757013A>T | CA370315372 | GATA4 | c.1076A>T (p.Glu359Val) c.1079A>T (p.Glu360Val) n.521A>T c.458A>T (p.Glu153Val) c.1073A>T (p.Glu358Val) c.332A>T (p.Glu111Val) | |
8 | g.11757014G>A | CA459313695 | GATA4 | c.1077G>A (p.Glu359=) c.1080G>A (p.Glu360=) n.522G>A c.459G>A (p.Glu153=) c.1074G>A (p.Glu358=) c.333G>A (p.Glu111=) | dbSNP gnomAD v4 |
8 | g.11757014G>C | CA370315374 | GATA4 | c.1077G>C (p.Glu359Asp) c.1080G>C (p.Glu360Asp) n.522G>C c.459G>C (p.Glu153Asp) c.1074G>C (p.Glu358Asp) c.333G>C (p.Glu111Asp) | |
8 | g.11757014G= | CA1764072477 | GATA4 | c.1077G= (p.Glu359=) c.1080G= (p.Glu360=) n.522G= c.459G= (p.Glu153=) c.1074G= (p.Glu358=) c.333G= (p.Glu111=) | |
8 | g.11757014G>T | CA370315375 | GATA4 | c.1077G>T (p.Glu359Asp) c.1080G>T (p.Glu360Asp) n.522G>T c.459G>T (p.Glu153Asp) c.1074G>T (p.Glu358Asp) c.333G>T (p.Glu111Asp) | dbSNP |
8 | g.11757015G>A | CA172120413 | GATA4 | c.1078G>A (p.Glu360Lys) c.1081G>A (p.Glu361Lys) n.523G>A c.460G>A (p.Glu154Lys) c.1075G>A (p.Glu359Lys) c.334G>A (p.Glu112Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757015G>C | CA4630818 | GATA4 | c.1078G>C (p.Glu360Gln) c.1081G>C (p.Glu361Gln) n.523G>C c.460G>C (p.Glu154Gln) c.1075G>C (p.Glu359Gln) c.334G>C (p.Glu112Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757015G= | CA1764072482 | GATA4 | c.1078G= (p.Glu360=) c.1081G= (p.Glu361=) n.523G= c.460G= (p.Glu154=) c.1075G= (p.Glu359=) c.334G= (p.Glu112=) | |
8 | g.11757015G>T | CA370315376 | GATA4 | c.1078G>T (p.Glu360Ter) c.1081G>T (p.Glu361Ter) n.523G>T c.460G>T (p.Glu154Ter) c.1075G>T (p.Glu359Ter) c.334G>T (p.Glu112Ter) | |
8 | g.11757016A= | CA1764072486 | GATA4 | c.1079A= (p.Glu360=) c.1082A= (p.Glu361=) n.524A= c.461A= (p.Glu154=) c.1076A= (p.Glu359=) c.335A= (p.Glu112=) | |
8 | g.11757016A>C | CA370315377 | GATA4 | c.1079A>C (p.Glu360Ala) c.1082A>C (p.Glu361Ala) n.524A>C c.461A>C (p.Glu154Ala) c.1076A>C (p.Glu359Ala) c.335A>C (p.Glu112Ala) | |
8 | g.11757016A>G | CA4630819 | GATA4 | c.1079A>G (p.Glu360Gly) c.1082A>G (p.Glu361Gly) n.524A>G c.461A>G (p.Glu154Gly) c.1076A>G (p.Glu359Gly) c.335A>G (p.Glu112Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11757016A>T | CA370315378 | GATA4 | c.1079A>T (p.Glu360Val) c.1082A>T (p.Glu361Val) n.524A>T c.461A>T (p.Glu154Val) c.1076A>T (p.Glu359Val) c.335A>T (p.Glu112Val) | |
8 | g.11757017G>A | CA459313696 | GATA4 | c.1080G>A (p.Glu360=) c.1083G>A (p.Glu361=) n.525G>A c.462G>A (p.Glu154=) c.1077G>A (p.Glu359=) c.336G>A (p.Glu112=) | |
8 | g.11757017G>C | CA370315379 | GATA4 | c.1080G>C (p.Glu360Asp) c.1083G>C (p.Glu361Asp) n.525G>C c.462G>C (p.Glu154Asp) c.1077G>C (p.Glu359Asp) c.336G>C (p.Glu112Asp) | |
8 | g.11757017G>T | CA370315380 | GATA4 | c.1080G>T (p.Glu360Asp) c.1083G>T (p.Glu361Asp) n.525G>T c.462G>T (p.Glu154Asp) c.1077G>T (p.Glu359Asp) c.336G>T (p.Glu112Asp) | |
8 | g.11757018A>C | CA370315383 | GATA4 | c.1081A>C (p.Met361Leu) c.1084A>C (p.Met362Leu) n.526A>C c.463A>C (p.Met155Leu) c.1078A>C (p.Met360Leu) c.337A>C (p.Met113Leu) | |
8 | g.11757018A>G | CA370315382 | GATA4 | c.1081A>G (p.Met361Val) c.1084A>G (p.Met362Val) n.526A>G c.463A>G (p.Met155Val) c.1078A>G (p.Met360Val) c.337A>G (p.Met113Val) | |
8 | g.11757018A>T | CA370315381 | GATA4 | c.1081A>T (p.Met361Leu) c.1084A>T (p.Met362Leu) n.526A>T c.463A>T (p.Met155Leu) c.1078A>T (p.Met360Leu) c.337A>T (p.Met113Leu) | |
8 | g.11757019T>A | CA370315384 | GATA4 | c.1082T>A (p.Met361Lys) c.1085T>A (p.Met362Lys) n.527T>A c.464T>A (p.Met155Lys) c.1079T>A (p.Met360Lys) c.338T>A (p.Met113Lys) | |
8 | g.11757019T>C | CA370315385 | GATA4 | c.1082T>C (p.Met361Thr) c.1085T>C (p.Met362Thr) n.527T>C c.464T>C (p.Met155Thr) c.1079T>C (p.Met360Thr) c.338T>C (p.Met113Thr) | |
8 | g.11757019T>G | CA370315386 | GATA4 | c.1082T>G (p.Met361Arg) c.1085T>G (p.Met362Arg) n.527T>G c.464T>G (p.Met155Arg) c.1079T>G (p.Met360Arg) c.338T>G (p.Met113Arg) | |
8 | g.11757020G>A | CA370315387 | GATA4 | c.1083G>A (p.Met361Ile) c.1086G>A (p.Met362Ile) n.528G>A c.465G>A (p.Met155Ile) c.1080G>A (p.Met360Ile) c.339G>A (p.Met113Ile) | |
8 | g.11757020G>C | CA370315388 | GATA4 | c.1083G>C (p.Met361Ile) c.1086G>C (p.Met362Ile) n.528G>C c.465G>C (p.Met155Ile) c.1080G>C (p.Met360Ile) c.339G>C (p.Met113Ile) | gnomAD v4 |
8 | g.11757020G>T | CA370315389 | GATA4 | c.1083G>T (p.Met361Ile) c.1086G>T (p.Met362Ile) n.528G>T c.465G>T (p.Met155Ile) c.1080G>T (p.Met360Ile) c.339G>T (p.Met113Ile) | |
8 | g.11757021C>A | CA370315390 | GATA4 | c.1084C>A (p.Arg362Ser) c.1087C>A (p.Arg363Ser) n.529C>A c.466C>A (p.Arg156Ser) c.1081C>A (p.Arg361Ser) c.340C>A (p.Arg114Ser) | |
8 | g.11757021C= | CA1764072488 | GATA4 | c.1084C= (p.Arg362=) c.1087C= (p.Arg363=) n.529C= c.466C= (p.Arg156=) c.1081C= (p.Arg361=) c.340C= (p.Arg114=) | |
8 | g.11757021C>G | CA370315391 | GATA4 | c.1084C>G (p.Arg362Gly) c.1087C>G (p.Arg363Gly) n.529C>G c.466C>G (p.Arg156Gly) c.1081C>G (p.Arg361Gly) c.340C>G (p.Arg114Gly) | dbSNP |
8 | g.11757021C>T | CA4630820 | GATA4 | c.1084C>T (p.Arg362Cys) c.1087C>T (p.Arg363Cys) n.529C>T c.466C>T (p.Arg156Cys) c.1081C>T (p.Arg361Cys) c.340C>T (p.Arg114Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.11757022G>A | CA4630821 | GATA4 | c.1085G>A (p.Arg362His) c.1088G>A (p.Arg363His) n.530G>A c.467G>A (p.Arg156His) c.1082G>A (p.Arg361His) c.341G>A (p.Arg114His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757022G>C | CA370315392 | GATA4 | c.1085G>C (p.Arg362Pro) c.1088G>C (p.Arg363Pro) n.530G>C c.467G>C (p.Arg156Pro) c.1082G>C (p.Arg361Pro) c.341G>C (p.Arg114Pro) | |
8 | g.11757022G= | CA1764072490 | GATA4 | c.1085G= (p.Arg362=) c.1088G= (p.Arg363=) n.530G= c.467G= (p.Arg156=) c.1082G= (p.Arg361=) c.341G= (p.Arg114=) | |
8 | g.11757022G>T | CA370315393 | GATA4 | c.1085G>T (p.Arg362Leu) c.1088G>T (p.Arg363Leu) n.530G>T c.467G>T (p.Arg156Leu) c.1082G>T (p.Arg361Leu) c.341G>T (p.Arg114Leu) | |
8 | g.11757023T>A | CA4630823 | GATA4 | c.1086T>A (p.Arg362=) c.1089T>A (p.Arg363=) n.531T>A c.468T>A (p.Arg156=) c.1083T>A (p.Arg361=) c.342T>A (p.Arg114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757023T>C | CA4630822 | GATA4 | c.1086T>C (p.Arg362=) c.1089T>C (p.Arg363=) n.531T>C c.468T>C (p.Arg156=) c.1083T>C (p.Arg361=) c.342T>C (p.Arg114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11757023T>G | CA459313697 | GATA4 | c.1086T>G (p.Arg362=) c.1089T>G (p.Arg363=) n.531T>G c.468T>G (p.Arg156=) c.1083T>G (p.Arg361=) c.342T>G (p.Arg114=) | |
8 | g.11757023T= | CA1764072495 | GATA4 | c.1086T= (p.Arg362=) c.1089T= (p.Arg363=) n.531T= c.468T= (p.Arg156=) c.1083T= (p.Arg361=) c.342T= (p.Arg114=) | |
8 | g.11757024C>A | CA370315394 | GATA4 | c.1087C>A (p.Pro363Thr) c.1090C>A (p.Pro364Thr) n.532C>A c.469C>A (p.Pro157Thr) c.1084C>A (p.Pro362Thr) c.343C>A (p.Pro115Thr) | |
8 | g.11757024C>G | CA370315395 | GATA4 | c.1087C>G (p.Pro363Ala) c.1090C>G (p.Pro364Ala) n.532C>G c.469C>G (p.Pro157Ala) c.1084C>G (p.Pro362Ala) c.343C>G (p.Pro115Ala) | |
8 | g.11757024C>T | CA370315396 | GATA4 | c.1087C>T (p.Pro363Ser) c.1090C>T (p.Pro364Ser) n.532C>T c.469C>T (p.Pro157Ser) c.1084C>T (p.Pro362Ser) c.343C>T (p.Pro115Ser) | COSMIC |
8 | g.11757025C>A | CA370315397 | GATA4 | c.1088C>A (p.Pro363His) c.1091C>A (p.Pro364His) n.533C>A c.470C>A (p.Pro157His) c.1085C>A (p.Pro362His) c.344C>A (p.Pro115His) | |
8 | g.11757025C= | CA1764072500 | GATA4 | c.1088C= (p.Pro363=) c.1091C= (p.Pro364=) n.533C= c.470C= (p.Pro157=) c.1085C= (p.Pro362=) c.344C= (p.Pro115=) |