| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11750164_11750166del | CA459311217 | GATA4 | c.837_839del (p.Thr280del) c.840_842del (p.Thr281del) c.219_221del (p.Thr74del) c.834_836del (p.Thr279del) c.165+1079_165+1081del (n.165+1079_165+1081del) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11750166C>A | CA370313011 | GATA4 | c.839C>A (p.Thr280Lys) c.842C>A (p.Thr281Lys) c.221C>A (p.Thr74Lys) c.836C>A (p.Thr279Lys) c.165+1081C>A (n.165+1081C>A) | |
| 8 | g.11750166C= | CA1764081173 | GATA4 | c.839C= (p.Thr280=) c.842C= (p.Thr281=) c.221C= (p.Thr74=) c.836C= (p.Thr279=) c.165+1081C= (n.165+1081C=) | |
| 8 | g.11750166C>G | CA370313012 | GATA4 | c.839C>G (p.Thr280Arg) c.842C>G (p.Thr281Arg) c.221C>G (p.Thr74Arg) c.836C>G (p.Thr279Arg) c.165+1081C>G (n.165+1081C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11750166C>T | CA212675 | GATA4 | c.839C>T (p.Thr280Met) c.842C>T (p.Thr281Met) c.221C>T (p.Thr74Met) c.836C>T (p.Thr279Met) c.165+1081C>T (n.165+1081C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11750167G>A | CA4630717 | GATA4 | c.840G>A (p.Thr280=) c.843G>A (p.Thr281=) c.222G>A (p.Thr74=) c.837G>A (p.Thr279=) c.165+1082G>A (n.165+1082G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11750167G>C | CA459311251 | GATA4 | c.840G>C (p.Thr280=) c.843G>C (p.Thr281=) c.222G>C (p.Thr74=) c.837G>C (p.Thr279=) c.165+1082G>C (n.165+1082G>C) | gnomAD v4 COSMIC |
| 8 | g.11750167G= | CA1764081180 | GATA4 | c.840G= (p.Thr280=) c.843G= (p.Thr281=) c.222G= (p.Thr74=) c.837G= (p.Thr279=) c.165+1082G= (n.165+1082G=) | |
| 8 | g.11750167G>T | CA459311249 | GATA4 | c.840G>T (p.Thr280=) c.843G>T (p.Thr281=) c.222G>T (p.Thr74=) c.837G>T (p.Thr279=) c.165+1082G>T (n.165+1082G>T) | |
| 8 | g.11750168C>A | CA370313013 | GATA4 | c.841C>A (p.Leu281Met) c.844C>A (p.Leu282Met) c.223C>A (p.Leu75Met) c.838C>A (p.Leu280Met) c.165+1083C>A (n.165+1083C>A) | dbSNP gnomAD v2 |
| 8 | g.11750168C= | CA1764081184 | GATA4 | c.841C= (p.Leu281=) c.844C= (p.Leu282=) c.223C= (p.Leu75=) c.838C= (p.Leu280=) c.165+1083C= (n.165+1083C=) | |
| 8 | g.11750168C>G | CA370313014 | GATA4 | c.841C>G (p.Leu281Val) c.844C>G (p.Leu282Val) c.223C>G (p.Leu75Val) c.838C>G (p.Leu280Val) c.165+1083C>G (n.165+1083C>G) | |
| 8 | g.11750168C>T | CA459311254 | GATA4 | c.841C>T (p.Leu281=) c.844C>T (p.Leu282=) c.223C>T (p.Leu75=) c.838C>T (p.Leu280=) c.165+1083C>T (n.165+1083C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11750169T>A | CA370313015 | GATA4 | c.842T>A (p.Leu281Gln) c.845T>A (p.Leu282Gln) c.224T>A (p.Leu75Gln) c.839T>A (p.Leu280Gln) c.165+1084T>A (n.165+1084T>A) | |
| 8 | g.11750169T>C | CA370313017 | GATA4 | c.842T>C (p.Leu281Pro) c.845T>C (p.Leu282Pro) c.224T>C (p.Leu75Pro) c.839T>C (p.Leu280Pro) c.165+1084T>C (n.165+1084T>C) | |
| 8 | g.11750169T>G | CA370313016 | GATA4 | c.842T>G (p.Leu281Arg) c.845T>G (p.Leu282Arg) c.224T>G (p.Leu75Arg) c.839T>G (p.Leu280Arg) c.165+1084T>G (n.165+1084T>G) | |
| 8 | g.11750170G>A | CA4630718 | GATA4 | c.843G>A (p.Leu281=) c.846G>A (p.Leu282=) c.225G>A (p.Leu75=) c.840G>A (p.Leu280=) c.165+1085G>A (n.165+1085G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11750170G>C | CA459311260 | GATA4 | c.843G>C (p.Leu281=) c.846G>C (p.Leu282=) c.225G>C (p.Leu75=) c.840G>C (p.Leu280=) c.165+1085G>C (n.165+1085G>C) | ClinVar |
| 8 | g.11750170G= | CA1764081188 | GATA4 | c.843G= (p.Leu281=) c.846G= (p.Leu282=) c.225G= (p.Leu75=) c.840G= (p.Leu280=) c.165+1085G= (n.165+1085G=) | |
| 8 | g.11750170G>T | CA459311262 | GATA4 | c.843G>T (p.Leu281=) c.846G>T (p.Leu282=) c.225G>T (p.Leu75=) c.840G>T (p.Leu280=) c.165+1085G>T (n.165+1085G>T) | |
| 8 | g.11750171T>A | CA370313018 | GATA4 | c.844T>A (p.Trp282Arg) c.847T>A (p.Trp283Arg) c.226T>A (p.Trp76Arg) c.841T>A (p.Trp281Arg) c.165+1086T>A (n.165+1086T>A) | |
| 8 | g.11750171T>C | CA370313019 | GATA4 | c.844T>C (p.Trp282Arg) c.847T>C (p.Trp283Arg) c.226T>C (p.Trp76Arg) c.841T>C (p.Trp281Arg) c.165+1086T>C (n.165+1086T>C) | |
| 8 | g.11750171T>G | CA370313020 | GATA4 | c.844T>G (p.Trp282Gly) c.847T>G (p.Trp283Gly) c.226T>G (p.Trp76Gly) c.841T>G (p.Trp281Gly) c.165+1086T>G (n.165+1086T>G) | |
| 8 | g.11750172G>A | CA370313021 | GATA4 | c.845G>A (p.Trp282Ter) c.848G>A (p.Trp283Ter) c.227G>A (p.Trp76Ter) c.842G>A (p.Trp281Ter) c.165+1087G>A (n.165+1087G>A) | |
| 8 | g.11750172G>C | CA370313022 | GATA4 | c.845G>C (p.Trp282Ser) c.848G>C (p.Trp283Ser) c.227G>C (p.Trp76Ser) c.842G>C (p.Trp281Ser) c.165+1087G>C (n.165+1087G>C) | |
| 8 | g.11750172G>T | CA370313023 | GATA4 | c.845G>T (p.Trp282Leu) c.848G>T (p.Trp283Leu) c.227G>T (p.Trp76Leu) c.842G>T (p.Trp281Leu) c.165+1087G>T (n.165+1087G>T) | |
| 8 | g.11750173G>A | CA370313024 | GATA4 | c.846G>A (p.Trp282Ter) c.849G>A (p.Trp283Ter) c.228G>A (p.Trp76Ter) c.843G>A (p.Trp281Ter) c.165+1088G>A (n.165+1088G>A) | |
| 8 | g.11750173G>C | CA370313025 | GATA4 | c.846G>C (p.Trp282Cys) c.849G>C (p.Trp283Cys) c.228G>C (p.Trp76Cys) c.843G>C (p.Trp281Cys) c.165+1088G>C (n.165+1088G>C) | |
| 8 | g.11750173G>T | CA370313026 | GATA4 | c.846G>T (p.Trp282Cys) c.849G>T (p.Trp283Cys) c.228G>T (p.Trp76Cys) c.843G>T (p.Trp281Cys) c.165+1088G>T (n.165+1088G>T) | |
| 8 | g.11750174C>A | CA370313029 | GATA4 | c.847C>A (p.Arg283Ser) c.850C>A (p.Arg284Ser) c.229C>A (p.Arg77Ser) c.844C>A (p.Arg282Ser) c.165+1089C>A (n.165+1089C>A) | |
| 8 | g.11750174C>G | CA370313028 | GATA4 | c.847C>G (p.Arg283Gly) c.850C>G (p.Arg284Gly) c.229C>G (p.Arg77Gly) c.844C>G (p.Arg282Gly) c.165+1089C>G (n.165+1089C>G) | |
| 8 | g.11750174C>T | CA370313027 | GATA4 | c.847C>T (p.Arg283Cys) c.850C>T (p.Arg284Cys) c.229C>T (p.Arg77Cys) c.844C>T (p.Arg282Cys) c.165+1089C>T (n.165+1089C>T) | gnomAD v4 |
| 8 | g.11750175G>A | CA172114436 | GATA4 | c.848G>A (p.Arg283His) c.851G>A (p.Arg284His) c.230G>A (p.Arg77His) c.845G>A (p.Arg282His) c.165+1090G>A (n.165+1090G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11750175G>C | CA370313030 | GATA4 | c.848G>C (p.Arg283Pro) c.851G>C (p.Arg284Pro) c.230G>C (p.Arg77Pro) c.845G>C (p.Arg282Pro) c.165+1090G>C (n.165+1090G>C) | |
| 8 | g.11750175G= | CA1764081191 | GATA4 | c.848G= (p.Arg283=) c.851G= (p.Arg284=) c.230G= (p.Arg77=) c.845G= (p.Arg282=) c.165+1090G= (n.165+1090G=) | |
| 8 | g.11750175G>T | CA370313031 | GATA4 | c.848G>T (p.Arg283Leu) c.851G>T (p.Arg284Leu) c.230G>T (p.Arg77Leu) c.845G>T (p.Arg282Leu) c.165+1090G>T (n.165+1090G>T) | |
| 8 | g.11750176C>A | CA459311277 | GATA4 | c.849C>A (p.Arg283=) c.852C>A (p.Arg284=) c.231C>A (p.Arg77=) c.846C>A (p.Arg282=) c.165+1091C>A (n.165+1091C>A) | gnomAD v4 |
| 8 | g.11750176C= | CA1764081194 | GATA4 | c.849C= (p.Arg283=) c.852C= (p.Arg284=) c.231C= (p.Arg77=) c.846C= (p.Arg282=) c.165+1091C= (n.165+1091C=) | |
| 8 | g.11750176C>G | CA4630719 | GATA4 | c.849C>G (p.Arg283=) c.852C>G (p.Arg284=) c.231C>G (p.Arg77=) c.846C>G (p.Arg282=) c.165+1091C>G (n.165+1091C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11750176C>T | CA459311275 | GATA4 | c.849C>T (p.Arg283=) c.852C>T (p.Arg284=) c.231C>T (p.Arg77=) c.846C>T (p.Arg282=) c.165+1091C>T (n.165+1091C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11750177C>A | CA370313032 | GATA4 | c.850C>A (p.Arg284Ser) c.853C>A (p.Arg285Ser) c.232C>A (p.Arg78Ser) c.847C>A (p.Arg283Ser) c.165+1092C>A (n.165+1092C>A) | dbSNP |
| 8 | g.11750177C>G | CA370313033 | GATA4 | c.850C>G (p.Arg284Gly) c.853C>G (p.Arg285Gly) c.232C>G (p.Arg78Gly) c.847C>G (p.Arg283Gly) c.165+1092C>G (n.165+1092C>G) | |
| 8 | g.11750177C>T | CA370313034 | GATA4 | c.850C>T (p.Arg284Cys) c.853C>T (p.Arg285Cys) c.232C>T (p.Arg78Cys) c.847C>T (p.Arg283Cys) c.165+1092C>T (n.165+1092C>T) | ClinVar |
| 8 | g.11750178G>A | CA370313035 | GATA4 | c.851G>A (p.Arg284His) c.854G>A (p.Arg285His) c.233G>A (p.Arg78His) c.848G>A (p.Arg283His) c.165+1093G>A (n.165+1093G>A) | ClinVar dbSNP |
| 8 | g.11750178G>C | CA370313036 | GATA4 | c.851G>C (p.Arg284Pro) c.854G>C (p.Arg285Pro) c.233G>C (p.Arg78Pro) c.848G>C (p.Arg283Pro) c.165+1093G>C (n.165+1093G>C) | |
| 8 | g.11750178G>T | CA370313037 | GATA4 | c.851G>T (p.Arg284Leu) c.854G>T (p.Arg285Leu) c.233G>T (p.Arg78Leu) c.848G>T (p.Arg283Leu) c.165+1093G>T (n.165+1093G>T) | |
| 8 | g.11750178_11750180del | CA2573102939 | GATA4 | c.851_853del (p.Arg284_Asn285delinsHis) c.854_856del (p.Arg285_Asn286delinsHis) c.233_235del (p.Arg78_Asn79delinsHis) c.848_850del (p.Arg283_Asn284delinsHis) c.165+1093_165+1095del (n.165+1093_165+1095del) | ClinVar |
| 8 | g.11750179C>A | CA459311283 | GATA4 | c.852C>A (p.Arg284=) c.855C>A (p.Arg285=) c.234C>A (p.Arg78=) c.849C>A (p.Arg283=) c.165+1094C>A (n.165+1094C>A) | |
| 8 | g.11750179C= | CA1764081197 | GATA4 | c.852C= (p.Arg284=) c.855C= (p.Arg285=) c.234C= (p.Arg78=) c.849C= (p.Arg283=) c.165+1094C= (n.165+1094C=) | |
| 8 | g.11750179C>G | CA459311285 | GATA4 | c.852C>G (p.Arg284=) c.855C>G (p.Arg285=) c.234C>G (p.Arg78=) c.849C>G (p.Arg283=) c.165+1094C>G (n.165+1094C>G) |