Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.11750142C>A | CA370312960 | GATA4 | c.815C>A (p.Ala272Asp) c.818C>A (p.Ala273Asp) c.197C>A (p.Ala66Asp) c.812C>A (p.Ala271Asp) c.165+1057C>A (n.165+1057C>A) | |
8 | g.11750142C>G | CA370312962 | GATA4 | c.815C>G (p.Ala272Gly) c.818C>G (p.Ala273Gly) c.197C>G (p.Ala66Gly) c.812C>G (p.Ala271Gly) c.165+1057C>G (n.165+1057C>G) | |
8 | g.11750142C>T | CA370312961 | GATA4 | c.815C>T (p.Ala272Val) c.818C>T (p.Ala273Val) c.197C>T (p.Ala66Val) c.812C>T (p.Ala271Val) c.165+1057C>T (n.165+1057C>T) | gnomAD v4 |
8 | g.11750143C>A | CA459311175 | GATA4 | c.816C>A (p.Ala272=) c.819C>A (p.Ala273=) c.198C>A (p.Ala66=) c.813C>A (p.Ala271=) c.165+1058C>A (n.165+1058C>A) | |
8 | g.11750143C>G | CA459311177 | GATA4 | c.816C>G (p.Ala272=) c.819C>G (p.Ala273=) c.198C>G (p.Ala66=) c.813C>G (p.Ala271=) c.165+1058C>G (n.165+1058C>G) | |
8 | g.11750143C>T | CA459311180 | GATA4 | c.816C>T (p.Ala272=) c.819C>T (p.Ala273=) c.198C>T (p.Ala66=) c.813C>T (p.Ala271=) c.165+1058C>T (n.165+1058C>T) | |
8 | g.11750144A>C | CA370312963 | GATA4 | c.817A>C (p.Asn273His) c.820A>C (p.Asn274His) c.199A>C (p.Asn67His) c.814A>C (p.Asn272His) c.165+1059A>C (n.165+1059A>C) | |
8 | g.11750144A>G | CA370312965 | GATA4 | c.817A>G (p.Asn273Asp) c.820A>G (p.Asn274Asp) c.199A>G (p.Asn67Asp) c.814A>G (p.Asn272Asp) c.165+1059A>G (n.165+1059A>G) | |
8 | g.11750144A>T | CA370312964 | GATA4 | c.817A>T (p.Asn273Tyr) c.820A>T (p.Asn274Tyr) c.199A>T (p.Asn67Tyr) c.814A>T (p.Asn272Tyr) c.165+1059A>T (n.165+1059A>T) | |
8 | g.11750145A= | CA1764081129 | GATA4 | c.818A= (p.Asn273=) c.821A= (p.Asn274=) c.200A= (p.Asn67=) c.815A= (p.Asn272=) c.165+1060A= (n.165+1060A=) | |
8 | g.11750145A>C | CA370312966 | GATA4 | c.818A>C (p.Asn273Thr) c.821A>C (p.Asn274Thr) c.200A>C (p.Asn67Thr) c.815A>C (p.Asn272Thr) c.165+1060A>C (n.165+1060A>C) | |
8 | g.11750145A>G | CA370312967 | GATA4 | c.818A>G (p.Asn273Ser) c.821A>G (p.Asn274Ser) c.200A>G (p.Asn67Ser) c.815A>G (p.Asn272Ser) c.165+1060A>G (n.165+1060A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750145A>T | CA370312968 | GATA4 | c.818A>T (p.Asn273Ile) c.821A>T (p.Asn274Ile) c.200A>T (p.Asn67Ile) c.815A>T (p.Asn272Ile) c.165+1060A>T (n.165+1060A>T) | |
8 | g.11750146C>A | CA370312969 | GATA4 | c.819C>A (p.Asn273Lys) c.822C>A (p.Asn274Lys) c.201C>A (p.Asn67Lys) c.816C>A (p.Asn272Lys) c.165+1061C>A (n.165+1061C>A) | |
8 | g.11750146C>G | CA370312970 | GATA4 | c.819C>G (p.Asn273Lys) c.822C>G (p.Asn274Lys) c.201C>G (p.Asn67Lys) c.816C>G (p.Asn272Lys) c.165+1061C>G (n.165+1061C>G) | |
8 | g.11750146C>T | CA459311193 | GATA4 | c.819C>T (p.Asn273=) c.822C>T (p.Asn274=) c.201C>T (p.Asn67=) c.816C>T (p.Asn272=) c.165+1061C>T (n.165+1061C>T) | |
8 | g.11750147T>A | CA370312971 | GATA4 | c.820T>A (p.Cys274Ser) c.823T>A (p.Cys275Ser) c.202T>A (p.Cys68Ser) c.817T>A (p.Cys273Ser) c.165+1062T>A (n.165+1062T>A) | |
8 | g.11750147T>C | CA370312972 | GATA4 | c.820T>C (p.Cys274Arg) c.823T>C (p.Cys275Arg) c.202T>C (p.Cys68Arg) c.817T>C (p.Cys273Arg) c.165+1062T>C (n.165+1062T>C) | |
8 | g.11750147T>G | CA370312973 | GATA4 | c.820T>G (p.Cys274Gly) c.823T>G (p.Cys275Gly) c.202T>G (p.Cys68Gly) c.817T>G (p.Cys273Gly) c.165+1062T>G (n.165+1062T>G) | |
8 | g.11750148G>A | CA370312974 | GATA4 | c.821G>A (p.Cys274Tyr) c.824G>A (p.Cys275Tyr) c.203G>A (p.Cys68Tyr) c.818G>A (p.Cys273Tyr) c.165+1063G>A (n.165+1063G>A) | |
8 | g.11750148G>C | CA370312975 | GATA4 | c.821G>C (p.Cys274Ser) c.824G>C (p.Cys275Ser) c.203G>C (p.Cys68Ser) c.818G>C (p.Cys273Ser) c.165+1063G>C (n.165+1063G>C) | |
8 | g.11750148G>T | CA370312976 | GATA4 | c.821G>T (p.Cys274Phe) c.824G>T (p.Cys275Phe) c.203G>T (p.Cys68Phe) c.818G>T (p.Cys273Phe) c.165+1063G>T (n.165+1063G>T) | COSMIC |
8 | g.11750149C>A | CA370312978 | GATA4 | c.822C>A (p.Cys274Ter) c.825C>A (p.Cys275Ter) c.204C>A (p.Cys68Ter) c.819C>A (p.Cys273Ter) c.165+1064C>A (n.165+1064C>A) | |
8 | g.11750149C= | CA1764081135 | GATA4 | c.822C= (p.Cys274=) c.825C= (p.Cys275=) c.204C= (p.Cys68=) c.819C= (p.Cys273=) c.165+1064C= (n.165+1064C=) | |
8 | g.11750149C>G | CA370312977 | GATA4 | c.822C>G (p.Cys274Trp) c.825C>G (p.Cys275Trp) c.204C>G (p.Cys68Trp) c.819C>G (p.Cys273Trp) c.165+1064C>G (n.165+1064C>G) | |
8 | g.11750149C>T | CA133997 | GATA4 | c.822C>T (p.Cys274=) c.825C>T (p.Cys275=) c.204C>T (p.Cys68=) c.819C>T (p.Cys273=) c.165+1064C>T (n.165+1064C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750150C>A | CA370312979 | GATA4 | c.823C>A (p.Gln275Lys) c.826C>A (p.Gln276Lys) c.205C>A (p.Gln69Lys) c.820C>A (p.Gln274Lys) c.165+1065C>A (n.165+1065C>A) | |
8 | g.11750150C>G | CA370312980 | GATA4 | c.823C>G (p.Gln275Glu) c.826C>G (p.Gln276Glu) c.205C>G (p.Gln69Glu) c.820C>G (p.Gln274Glu) c.165+1065C>G (n.165+1065C>G) | |
8 | g.11750150C>T | CA370312981 | GATA4 | c.823C>T (p.Gln275Ter) c.826C>T (p.Gln276Ter) c.205C>T (p.Gln69Ter) c.820C>T (p.Gln274Ter) c.165+1065C>T (n.165+1065C>T) | |
8 | g.11750151A= | CA1764081140 | GATA4 | c.824A= (p.Gln275=) c.827A= (p.Gln276=) c.206A= (p.Gln69=) c.821A= (p.Gln274=) c.165+1066A= (n.165+1066A=) | |
8 | g.11750151A>C | CA370312982 | GATA4 | c.824A>C (p.Gln275Pro) c.827A>C (p.Gln276Pro) c.206A>C (p.Gln69Pro) c.821A>C (p.Gln274Pro) c.165+1066A>C (n.165+1066A>C) | |
8 | g.11750151A>G | CA4630713 | GATA4 | c.824A>G (p.Gln275Arg) c.827A>G (p.Gln276Arg) c.206A>G (p.Gln69Arg) c.821A>G (p.Gln274Arg) c.165+1066A>G (n.165+1066A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11750151A>T | CA370312983 | GATA4 | c.824A>T (p.Gln275Leu) c.827A>T (p.Gln276Leu) c.206A>T (p.Gln69Leu) c.821A>T (p.Gln274Leu) c.165+1066A>T (n.165+1066A>T) | |
8 | g.11750152G>A | CA459311210 | GATA4 | c.825G>A (p.Gln275=) c.828G>A (p.Gln276=) c.207G>A (p.Gln69=) c.822G>A (p.Gln274=) c.165+1067G>A (n.165+1067G>A) | |
8 | g.11750152G>C | CA370312984 | GATA4 | c.825G>C (p.Gln275His) c.828G>C (p.Gln276His) c.207G>C (p.Gln69His) c.822G>C (p.Gln274His) c.165+1067G>C (n.165+1067G>C) | |
8 | g.11750152G= | CA1764081147 | GATA4 | c.825G= (p.Gln275=) c.828G= (p.Gln276=) c.207G= (p.Gln69=) c.822G= (p.Gln274=) c.165+1067G= (n.165+1067G=) | |
8 | g.11750152G>T | CA172114395 | GATA4 | c.825G>T (p.Gln275His) c.828G>T (p.Gln276His) c.207G>T (p.Gln69His) c.822G>T (p.Gln274His) c.165+1067G>T (n.165+1067G>T) | dbSNP |
8 | g.11750152_11750155delinsGACC | CA1764081146 | GATA4 | c.825_828delinsGACC (p.Gln275=) c.828_831delinsGACC (p.Gln276=) c.207_210delinsGACC (p.Gln69=) c.822_825delinsGACC (p.Gln274=) c.165+1067_165+1070delinsGACC (n.165+1067_165+1070delinsGACC) | |
8 | g.11750153A>C | CA370312985 | GATA4 | c.826A>C (p.Thr276Pro) c.829A>C (p.Thr277Pro) c.208A>C (p.Thr70Pro) c.823A>C (p.Thr275Pro) c.165+1068A>C (n.165+1068A>C) | |
8 | g.11750153A>G | CA370312986 | GATA4 | c.826A>G (p.Thr276Ala) c.829A>G (p.Thr277Ala) c.208A>G (p.Thr70Ala) c.823A>G (p.Thr275Ala) c.165+1068A>G (n.165+1068A>G) | gnomAD v4 |
8 | g.11750153A>T | CA370312987 | GATA4 | c.826A>T (p.Thr276Ser) c.829A>T (p.Thr277Ser) c.208A>T (p.Thr70Ser) c.823A>T (p.Thr275Ser) c.165+1068A>T (n.165+1068A>T) | |
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.11750154C>A | CA370312990 | GATA4 | c.827C>A (p.Thr276Asn) c.830C>A (p.Thr277Asn) c.209C>A (p.Thr70Asn) c.824C>A (p.Thr275Asn) c.165+1069C>A (n.165+1069C>A) | |
8 | g.11750154C= | CA1764081151 | GATA4 | c.827C= (p.Thr276=) c.830C= (p.Thr277=) c.209C= (p.Thr70=) c.824C= (p.Thr275=) c.165+1069C= (n.165+1069C=) | |
8 | g.11750154C>G | CA370312989 | GATA4 | c.827C>G (p.Thr276Ser) c.830C>G (p.Thr277Ser) c.209C>G (p.Thr70Ser) c.824C>G (p.Thr275Ser) c.165+1069C>G (n.165+1069C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11750154C>T | CA370312988 | GATA4 | c.827C>T (p.Thr276Ile) c.830C>T (p.Thr277Ile) c.209C>T (p.Thr70Ile) c.824C>T (p.Thr275Ile) c.165+1069C>T (n.165+1069C>T) | dbSNP |
8 | g.11750155C>A | CA459311220 | GATA4 | c.828C>A (p.Thr276=) c.831C>A (p.Thr277=) c.210C>A (p.Thr70=) c.825C>A (p.Thr275=) c.165+1070C>A (n.165+1070C>A) | COSMIC |
8 | g.11750155C>G | CA459311219 | GATA4 | c.828C>G (p.Thr276=) c.831C>G (p.Thr277=) c.210C>G (p.Thr70=) c.825C>G (p.Thr275=) c.165+1070C>G (n.165+1070C>G) | gnomAD v4 |
8 | g.11750155C>T | CA459311218 | GATA4 | c.828C>T (p.Thr276=) c.831C>T (p.Thr277=) c.210C>T (p.Thr70=) c.825C>T (p.Thr275=) c.165+1070C>T (n.165+1070C>T) | gnomAD v4 |
8 | g.11750156A= | CA1764081153 | GATA4 | c.829A= (p.Thr277=) c.832A= (p.Thr278=) c.211A= (p.Thr71=) c.826A= (p.Thr276=) c.165+1071A= (n.165+1071A=) | |
8 | g.11750156A>C | CA4630714 | GATA4 | c.829A>C (p.Thr277Pro) c.832A>C (p.Thr278Pro) c.211A>C (p.Thr71Pro) c.826A>C (p.Thr276Pro) c.165+1071A>C (n.165+1071A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750156A>G | CA370312991 | GATA4 | c.829A>G (p.Thr277Ala) c.832A>G (p.Thr278Ala) c.211A>G (p.Thr71Ala) c.826A>G (p.Thr276Ala) c.165+1071A>G (n.165+1071A>G) | ClinVar |
8 | g.11750156A>T | CA370312992 | GATA4 | c.829A>T (p.Thr277Ser) c.832A>T (p.Thr278Ser) c.211A>T (p.Thr71Ser) c.826A>T (p.Thr276Ser) c.165+1071A>T (n.165+1071A>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11750157C>A | CA370312993 | GATA4 | c.830C>A (p.Thr277Asn) c.833C>A (p.Thr278Asn) c.212C>A (p.Thr71Asn) c.827C>A (p.Thr276Asn) c.165+1072C>A (n.165+1072C>A) | |
8 | g.11750157C= | CA1764081157 | GATA4 | c.830C= (p.Thr277=) c.833C= (p.Thr278=) c.212C= (p.Thr71=) c.827C= (p.Thr276=) c.165+1072C= (n.165+1072C=) | |
8 | g.11750157C>G | CA370312994 | GATA4 | c.830C>G (p.Thr277Ser) c.833C>G (p.Thr278Ser) c.212C>G (p.Thr71Ser) c.827C>G (p.Thr276Ser) c.165+1072C>G (n.165+1072C>G) | dbSNP |
8 | g.11750157C>T | CA370312995 | GATA4 | c.830C>T (p.Thr277Ile) c.833C>T (p.Thr278Ile) c.212C>T (p.Thr71Ile) c.827C>T (p.Thr276Ile) c.165+1072C>T (n.165+1072C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11750158C>A | CA459311224 | GATA4 | c.831C>A (p.Thr277=) c.834C>A (p.Thr278=) c.213C>A (p.Thr71=) c.828C>A (p.Thr276=) c.165+1073C>A (n.165+1073C>A) | |
8 | g.11750158C>G | CA459311226 | GATA4 | c.831C>G (p.Thr277=) c.834C>G (p.Thr278=) c.213C>G (p.Thr71=) c.828C>G (p.Thr276=) c.165+1073C>G (n.165+1073C>G) | gnomAD v4 |
8 | g.11750158C>T | CA459311227 | GATA4 | c.831C>T (p.Thr277=) c.834C>T (p.Thr278=) c.213C>T (p.Thr71=) c.828C>T (p.Thr276=) c.165+1073C>T (n.165+1073C>T) | |
8 | g.11750159A>C | CA370312996 | GATA4 | c.832A>C (p.Thr278Pro) c.835A>C (p.Thr279Pro) c.214A>C (p.Thr72Pro) c.829A>C (p.Thr277Pro) c.165+1074A>C (n.165+1074A>C) | |
8 | g.11750159A>G | CA370312997 | GATA4 | c.832A>G (p.Thr278Ala) c.835A>G (p.Thr279Ala) c.214A>G (p.Thr72Ala) c.829A>G (p.Thr277Ala) c.165+1074A>G (n.165+1074A>G) | |
8 | g.11750159A>T | CA370312998 | GATA4 | c.832A>T (p.Thr278Ser) c.835A>T (p.Thr279Ser) c.214A>T (p.Thr72Ser) c.829A>T (p.Thr277Ser) c.165+1074A>T (n.165+1074A>T) | |
8 | g.11750160C>A | CA370312999 | GATA4 | c.833C>A (p.Thr278Asn) c.836C>A (p.Thr279Asn) c.215C>A (p.Thr72Asn) c.830C>A (p.Thr277Asn) c.165+1075C>A (n.165+1075C>A) | dbSNP gnomAD v4 |
8 | g.11750160C= | CA1764081159 | GATA4 | c.833C= (p.Thr278=) c.836C= (p.Thr279=) c.215C= (p.Thr72=) c.830C= (p.Thr277=) c.165+1075C= (n.165+1075C=) | |
8 | g.11750160C>G | CA370313000 | GATA4 | c.833C>G (p.Thr278Ser) c.836C>G (p.Thr279Ser) c.215C>G (p.Thr72Ser) c.830C>G (p.Thr277Ser) c.165+1075C>G (n.165+1075C>G) | |
8 | g.11750160C>T | CA370313001 | GATA4 | c.833C>T (p.Thr278Ile) c.836C>T (p.Thr279Ile) c.215C>T (p.Thr72Ile) c.830C>T (p.Thr277Ile) c.165+1075C>T (n.165+1075C>T) | ClinVar dbSNP gnomAD v4 |
8 | g.11750161C>A | CA459311232 | GATA4 | c.834C>A (p.Thr278=) c.837C>A (p.Thr279=) c.216C>A (p.Thr72=) c.831C>A (p.Thr277=) c.165+1076C>A (n.165+1076C>A) | |
8 | g.11750161C>G | CA459311235 | GATA4 | c.834C>G (p.Thr278=) c.837C>G (p.Thr279=) c.216C>G (p.Thr72=) c.831C>G (p.Thr277=) c.165+1076C>G (n.165+1076C>G) | |
8 | g.11750161C>T | CA459311234 | GATA4 | c.834C>T (p.Thr278=) c.837C>T (p.Thr279=) c.216C>T (p.Thr72=) c.831C>T (p.Thr277=) c.165+1076C>T (n.165+1076C>T) | |
8 | g.11750162A>C | CA370313004 | GATA4 | c.835A>C (p.Thr279Pro) c.838A>C (p.Thr280Pro) c.217A>C (p.Thr73Pro) c.832A>C (p.Thr278Pro) c.165+1077A>C (n.165+1077A>C) | |
8 | g.11750162A>G | CA370313002 | GATA4 | c.835A>G (p.Thr279Ala) c.838A>G (p.Thr280Ala) c.217A>G (p.Thr73Ala) c.832A>G (p.Thr278Ala) c.165+1077A>G (n.165+1077A>G) | |
8 | g.11750162A>T | CA370313003 | GATA4 | c.835A>T (p.Thr279Ser) c.838A>T (p.Thr280Ser) c.217A>T (p.Thr73Ser) c.832A>T (p.Thr278Ser) c.165+1077A>T (n.165+1077A>T) | |
8 | g.11750163C>A | CA370313005 | GATA4 | c.836C>A (p.Thr279Asn) c.839C>A (p.Thr280Asn) c.218C>A (p.Thr73Asn) c.833C>A (p.Thr278Asn) c.165+1078C>A (n.165+1078C>A) | |
8 | g.11750163C>G | CA370313006 | GATA4 | c.836C>G (p.Thr279Ser) c.839C>G (p.Thr280Ser) c.218C>G (p.Thr73Ser) c.833C>G (p.Thr278Ser) c.165+1078C>G (n.165+1078C>G) | |
8 | g.11750163C>T | CA370313007 | GATA4 | c.836C>T (p.Thr279Ile) c.839C>T (p.Thr280Ile) c.218C>T (p.Thr73Ile) c.833C>T (p.Thr278Ile) c.165+1078C>T (n.165+1078C>T) | |
8 | g.11750164C>A | CA4630716 | GATA4 | c.837C>A (p.Thr279=) c.840C>A (p.Thr280=) c.219C>A (p.Thr73=) c.834C>A (p.Thr278=) c.165+1079C>A (n.165+1079C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750164C= | CA1764081165 | GATA4 | c.837C= (p.Thr279=) c.840C= (p.Thr280=) c.219C= (p.Thr73=) c.834C= (p.Thr278=) c.165+1079C= (n.165+1079C=) | |
8 | g.11750164C>G | CA459311242 | GATA4 | c.837C>G (p.Thr279=) c.840C>G (p.Thr280=) c.219C>G (p.Thr73=) c.834C>G (p.Thr278=) c.165+1079C>G (n.165+1079C>G) | gnomAD v4 |
8 | g.11750164C>T | CA4630715 | GATA4 | c.837C>T (p.Thr279=) c.840C>T (p.Thr280=) c.219C>T (p.Thr73=) c.834C>T (p.Thr278=) c.165+1079C>T (n.165+1079C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750165A= | CA1764081171 | GATA4 | c.838A= (p.Thr280=) c.841A= (p.Thr281=) c.220A= (p.Thr74=) c.835A= (p.Thr279=) c.165+1080A= (n.165+1080A=) | |
8 | g.11750165A>C | CA370313008 | GATA4 | c.838A>C (p.Thr280Pro) c.841A>C (p.Thr281Pro) c.220A>C (p.Thr74Pro) c.835A>C (p.Thr279Pro) c.165+1080A>C (n.165+1080A>C) | |
8 | g.11750165A>G | CA370313009 | GATA4 | c.838A>G (p.Thr280Ala) c.841A>G (p.Thr281Ala) c.220A>G (p.Thr74Ala) c.835A>G (p.Thr279Ala) c.165+1080A>G (n.165+1080A>G) | |
8 | g.11750165A>T | CA370313010 | GATA4 | c.838A>T (p.Thr280Ser) c.841A>T (p.Thr281Ser) c.220A>T (p.Thr74Ser) c.835A>T (p.Thr279Ser) c.165+1080A>T (n.165+1080A>T) | ClinVar 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) | |
8 | g.11750179C>T | CA4630720 | GATA4 | c.852C>T (p.Arg284=) c.855C>T (p.Arg285=) c.234C>T (p.Arg78=) c.849C>T (p.Arg283=) c.165+1094C>T (n.165+1094C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750180A>C | CA370313039 | GATA4 | c.853A>C (p.Asn285His) c.856A>C (p.Asn286His) c.235A>C (p.Asn79His) c.850A>C (p.Asn284His) c.165+1095A>C (n.165+1095A>C) | |
8 | g.11750180A>G | CA370313040 | GATA4 | c.853A>G (p.Asn285Asp) c.856A>G (p.Asn286Asp) c.235A>G (p.Asn79Asp) c.850A>G (p.Asn284Asp) c.165+1095A>G (n.165+1095A>G) | |
8 | g.11750180A>T | CA370313038 | GATA4 | c.853A>T (p.Asn285Tyr) c.856A>T (p.Asn286Tyr) c.235A>T (p.Asn79Tyr) c.850A>T (p.Asn284Tyr) c.165+1095A>T (n.165+1095A>T) | |
8 | g.11750181A>C | CA370313041 | GATA4 | c.854A>C (p.Asn285Thr) c.857A>C (p.Asn286Thr) c.236A>C (p.Asn79Thr) c.851A>C (p.Asn284Thr) c.165+1096A>C (n.165+1096A>C) | |
8 | g.11750181A>G | CA370313042 | GATA4 | c.854A>G (p.Asn285Ser) c.857A>G (p.Asn286Ser) c.236A>G (p.Asn79Ser) c.851A>G (p.Asn284Ser) c.165+1096A>G (n.165+1096A>G) | |
8 | g.11750181A>T | CA370313043 | GATA4 | c.854A>T (p.Asn285Ile) c.857A>T (p.Asn286Ile) c.236A>T (p.Asn79Ile) c.851A>T (p.Asn284Ile) c.165+1096A>T (n.165+1096A>T) | |
8 | g.11750182T>A | CA370313044 | GATA4 | c.855T>A (p.Asn285Lys) c.858T>A (p.Asn286Lys) c.237T>A (p.Asn79Lys) c.852T>A (p.Asn284Lys) c.165+1097T>A (n.165+1097T>A) | |
8 | g.11750182T>C | CA4630721 | GATA4 | c.855T>C (p.Asn285=) c.858T>C (p.Asn286=) c.237T>C (p.Asn79=) c.852T>C (p.Asn284=) c.165+1097T>C (n.165+1097T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750182T>G | CA370313045 | GATA4 | c.855T>G (p.Asn285Lys) c.858T>G (p.Asn286Lys) c.237T>G (p.Asn79Lys) c.852T>G (p.Asn284Lys) c.165+1097T>G (n.165+1097T>G) | |
8 | g.11750182T= | CA1764081200 | GATA4 | c.855T= (p.Asn285=) c.858T= (p.Asn286=) c.237T= (p.Asn79=) c.852T= (p.Asn284=) c.165+1097T= (n.165+1097T=) | |
8 | g.11750183G>A | CA370313046 | GATA4 | c.856G>A (p.Ala286Thr) c.859G>A (p.Ala287Thr) c.238G>A (p.Ala80Thr) c.853G>A (p.Ala285Thr) c.165+1098G>A (n.165+1098G>A) | |
8 | g.11750183G>C | CA370313047 | GATA4 | c.856G>C (p.Ala286Pro) c.859G>C (p.Ala287Pro) c.238G>C (p.Ala80Pro) c.853G>C (p.Ala285Pro) c.165+1098G>C (n.165+1098G>C) | |
8 | g.11750183G>T | CA370313048 | GATA4 | c.856G>T (p.Ala286Ser) c.859G>T (p.Ala287Ser) c.238G>T (p.Ala80Ser) c.853G>T (p.Ala285Ser) c.165+1098G>T (n.165+1098G>T) | |
8 | g.11750184C>A | CA370313049 | GATA4 | c.857C>A (p.Ala286Glu) c.860C>A (p.Ala287Glu) c.239C>A (p.Ala80Glu) c.854C>A (p.Ala285Glu) c.165+1099C>A (n.165+1099C>A) | gnomAD v4 |
8 | g.11750184C= | CA1764081203 | GATA4 | c.857C= (p.Ala286=) c.860C= (p.Ala287=) c.239C= (p.Ala80=) c.854C= (p.Ala285=) c.165+1099C= (n.165+1099C=) | |
8 | g.11750184C>G | CA370313050 | GATA4 | c.857C>G (p.Ala286Gly) c.860C>G (p.Ala287Gly) c.239C>G (p.Ala80Gly) c.854C>G (p.Ala285Gly) c.165+1099C>G (n.165+1099C>G) | |
8 | g.11750184C>T | CA4630722 | GATA4 | c.857C>T (p.Ala286Val) c.860C>T (p.Ala287Val) c.239C>T (p.Ala80Val) c.854C>T (p.Ala285Val) c.165+1099C>T (n.165+1099C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750185G>A | CA4630723 | GATA4 | c.858G>A (p.Ala286=) c.861G>A (p.Ala287=) c.240G>A (p.Ala80=) c.855G>A (p.Ala285=) c.165+1100G>A (n.165+1100G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.11750185G>C | CA459311301 | GATA4 | c.858G>C (p.Ala286=) c.861G>C (p.Ala287=) c.240G>C (p.Ala80=) c.855G>C (p.Ala285=) c.165+1100G>C (n.165+1100G>C) | |
8 | g.11750185G= | CA1764081210 | GATA4 | c.858G= (p.Ala286=) c.861G= (p.Ala287=) c.240G= (p.Ala80=) c.855G= (p.Ala285=) c.165+1100G= (n.165+1100G=) | |
8 | g.11750185G>T | CA459311303 | GATA4 | c.858G>T (p.Ala286=) c.861G>T (p.Ala287=) c.240G>T (p.Ala80=) c.855G>T (p.Ala285=) c.165+1100G>T (n.165+1100G>T) | gnomAD v4 |
8 | g.11750186G>A | CA370313053 | GATA4 | c.859G>A (p.Glu287Lys) c.862G>A (p.Glu288Lys) c.241G>A (p.Glu81Lys) c.856G>A (p.Glu286Lys) c.165+1101G>A (n.165+1101G>A) | |
8 | g.11750186G>C | CA370313052 | GATA4 | c.859G>C (p.Glu287Gln) c.862G>C (p.Glu288Gln) c.241G>C (p.Glu81Gln) c.856G>C (p.Glu286Gln) c.165+1101G>C (n.165+1101G>C) | |
8 | g.11750186G>T | CA370313051 | GATA4 | c.859G>T (p.Glu287Ter) c.862G>T (p.Glu288Ter) c.241G>T (p.Glu81Ter) c.856G>T (p.Glu286Ter) c.165+1101G>T (n.165+1101G>T) | |
8 | g.11750187A>C | CA370313054 | GATA4 | c.860A>C (p.Glu287Ala) c.863A>C (p.Glu288Ala) c.242A>C (p.Glu81Ala) c.857A>C (p.Glu286Ala) c.165+1102A>C (n.165+1102A>C) | |
8 | g.11750187A>G | CA370313055 | GATA4 | c.860A>G (p.Glu287Gly) c.863A>G (p.Glu288Gly) c.242A>G (p.Glu81Gly) c.857A>G (p.Glu286Gly) c.165+1102A>G (n.165+1102A>G) | |
8 | g.11750187A>T | CA370313056 | GATA4 | c.860A>T (p.Glu287Val) c.863A>T (p.Glu288Val) c.242A>T (p.Glu81Val) c.857A>T (p.Glu286Val) c.165+1102A>T (n.165+1102A>T) | |
8 | g.11750188G>A | CA459311311 | GATA4 | c.861G>A (p.Glu287=) c.864G>A (p.Glu288=) c.243G>A (p.Glu81=) c.858G>A (p.Glu286=) c.165+1103G>A (n.165+1103G>A) | |
8 | g.11750188G>C | CA370313057 | GATA4 | c.861G>C (p.Glu287Asp) c.864G>C (p.Glu288Asp) c.243G>C (p.Glu81Asp) c.858G>C (p.Glu286Asp) c.165+1103G>C (n.165+1103G>C) | |
8 | g.11750188G>T | CA370313058 | GATA4 | c.861G>T (p.Glu287Asp) c.864G>T (p.Glu288Asp) c.243G>T (p.Glu81Asp) c.858G>T (p.Glu286Asp) c.165+1103G>T (n.165+1103G>T) | |
8 | g.11750189G>A | CA370313059 | GATA4 | c.862G>A (p.Gly288Ser) c.865G>A (p.Gly289Ser) c.244G>A (p.Gly82Ser) c.859G>A (p.Gly287Ser) c.165+1104G>A (n.165+1104G>A) | |
8 | g.11750189G>C | CA370313060 | GATA4 | c.862G>C (p.Gly288Arg) c.865G>C (p.Gly289Arg) c.244G>C (p.Gly82Arg) c.859G>C (p.Gly287Arg) c.165+1104G>C (n.165+1104G>C) | |
8 | g.11750189G>T | CA370313061 | GATA4 | c.862G>T (p.Gly288Cys) c.865G>T (p.Gly289Cys) c.244G>T (p.Gly82Cys) c.859G>T (p.Gly287Cys) c.165+1104G>T (n.165+1104G>T) | |
8 | g.11750190G>A | CA370313062 | GATA4 | c.863G>A (p.Gly288Asp) c.866G>A (p.Gly289Asp) c.245G>A (p.Gly82Asp) c.860G>A (p.Gly287Asp) c.165+1105G>A (n.165+1105G>A) | |
8 | g.11750190G>C | CA370313063 | GATA4 | c.863G>C (p.Gly288Ala) c.866G>C (p.Gly289Ala) c.245G>C (p.Gly82Ala) c.860G>C (p.Gly287Ala) c.165+1105G>C (n.165+1105G>C) | |
8 | g.11750190G>T | CA370313064 | GATA4 | c.863G>T (p.Gly288Val) c.866G>T (p.Gly289Val) c.245G>T (p.Gly82Val) c.860G>T (p.Gly287Val) c.165+1105G>T (n.165+1105G>T) | |
8 | g.11750191C>A | CA459311318 | GATA4 | c.864C>A (p.Gly288=) c.867C>A (p.Gly289=) c.246C>A (p.Gly82=) c.861C>A (p.Gly287=) c.165+1106C>A (n.165+1106C>A) | |
8 | g.11750191C= | CA1764081215 | GATA4 | c.864C= (p.Gly288=) c.867C= (p.Gly289=) c.246C= (p.Gly82=) c.861C= (p.Gly287=) c.165+1106C= (n.165+1106C=) | |
8 | g.11750191C>G | CA4630725 | GATA4 | c.864C>G (p.Gly288=) c.867C>G (p.Gly289=) c.246C>G (p.Gly82=) c.861C>G (p.Gly287=) c.165+1106C>G (n.165+1106C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11750191C>T | CA4630724 | GATA4 | c.864C>T (p.Gly288=) c.867C>T (p.Gly289=) c.246C>T (p.Gly82=) c.861C>T (p.Gly287=) c.165+1106C>T (n.165+1106C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750192G>A | CA172114452 | GATA4 | c.865G>A (p.Glu289Lys) c.868G>A (p.Glu290Lys) c.247G>A (p.Glu83Lys) c.862G>A (p.Glu288Lys) c.165+1107G>A (n.165+1107G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750192G>C | CA370313066 | GATA4 | c.865G>C (p.Glu289Gln) c.868G>C (p.Glu290Gln) c.247G>C (p.Glu83Gln) c.862G>C (p.Glu288Gln) c.165+1107G>C (n.165+1107G>C) | |
8 | g.11750192G= | CA1764081218 | GATA4 | c.865G= (p.Glu289=) c.868G= (p.Glu290=) c.247G= (p.Glu83=) c.862G= (p.Glu288=) c.165+1107G= (n.165+1107G=) | |
8 | g.11750192G>T | CA370313065 | GATA4 | c.865G>T (p.Glu289Ter) c.868G>T (p.Glu290Ter) c.247G>T (p.Glu83Ter) c.862G>T (p.Glu288Ter) c.165+1107G>T (n.165+1107G>T) | gnomAD v4 |
8 | g.11750193A>C | CA370313068 | GATA4 | c.866A>C (p.Glu289Ala) c.869A>C (p.Glu290Ala) c.248A>C (p.Glu83Ala) c.863A>C (p.Glu288Ala) c.165+1108A>C (n.165+1108A>C) | |
8 | g.11750193A>G | CA370313067 | GATA4 | c.866A>G (p.Glu289Gly) c.869A>G (p.Glu290Gly) c.248A>G (p.Glu83Gly) c.863A>G (p.Glu288Gly) c.165+1108A>G (n.165+1108A>G) | |
8 | g.11750193A>T | CA370313069 | GATA4 | c.866A>T (p.Glu289Val) c.869A>T (p.Glu290Val) c.248A>T (p.Glu83Val) c.863A>T (p.Glu288Val) c.165+1108A>T (n.165+1108A>T) | |
8 | g.11750194G>A | CA459311325 | GATA4 | c.867G>A (p.Glu289=) c.870G>A (p.Glu290=) c.249G>A (p.Glu83=) c.864G>A (p.Glu288=) c.165+1109G>A (n.165+1109G>A) | gnomAD v4 |
8 | g.11750194G>C | CA370313070 | GATA4 | c.867G>C (p.Glu289Asp) c.870G>C (p.Glu290Asp) c.249G>C (p.Glu83Asp) c.864G>C (p.Glu288Asp) c.165+1109G>C (n.165+1109G>C) | |
8 | g.11750194G>T | CA370313071 | GATA4 | c.867G>T (p.Glu289Asp) c.870G>T (p.Glu290Asp) c.249G>T (p.Glu83Asp) c.864G>T (p.Glu288Asp) c.165+1109G>T (n.165+1109G>T) | ClinVar dbSNP |
8 | g.11750195C>A | CA370313072 | GATA4 | c.868C>A (p.Pro290Thr) c.871C>A (p.Pro291Thr) c.250C>A (p.Pro84Thr) c.865C>A (p.Pro289Thr) c.165+1110C>A (n.165+1110C>A) | |
8 | g.11750195C>G | CA370313073 | GATA4 | c.868C>G (p.Pro290Ala) c.871C>G (p.Pro291Ala) c.250C>G (p.Pro84Ala) c.865C>G (p.Pro289Ala) c.165+1110C>G (n.165+1110C>G) | |
8 | g.11750195C>T | CA370313074 | GATA4 | c.868C>T (p.Pro290Ser) c.871C>T (p.Pro291Ser) c.250C>T (p.Pro84Ser) c.865C>T (p.Pro289Ser) c.165+1110C>T (n.165+1110C>T) | COSMIC |
8 | g.11750196C>A | CA370313075 | GATA4 | c.869C>A (p.Pro290His) c.872C>A (p.Pro291His) c.251C>A (p.Pro84His) c.866C>A (p.Pro289His) c.165+1111C>A (n.165+1111C>A) | |
8 | g.11750196C>G | CA370313076 | GATA4 | c.869C>G (p.Pro290Arg) c.872C>G (p.Pro291Arg) c.251C>G (p.Pro84Arg) c.866C>G (p.Pro289Arg) c.165+1111C>G (n.165+1111C>G) | |
8 | g.11750196C>T | CA370313077 | GATA4 | c.869C>T (p.Pro290Leu) c.872C>T (p.Pro291Leu) c.251C>T (p.Pro84Leu) c.866C>T (p.Pro289Leu) c.165+1111C>T (n.165+1111C>T) | |
8 | g.11750197T>A | CA459311337 | GATA4 | c.870T>A (p.Pro290=) c.873T>A (p.Pro291=) c.252T>A (p.Pro84=) c.867T>A (p.Pro289=) c.165+1112T>A (n.165+1112T>A) | |
8 | g.11750197T>C | CA459311335 | GATA4 | c.870T>C (p.Pro290=) c.873T>C (p.Pro291=) c.252T>C (p.Pro84=) c.867T>C (p.Pro289=) c.165+1112T>C (n.165+1112T>C) | dbSNP gnomAD v4 |
8 | g.11750197T>G | CA459311334 | GATA4 | c.870T>G (p.Pro290=) c.873T>G (p.Pro291=) c.252T>G (p.Pro84=) c.867T>G (p.Pro289=) c.165+1112T>G (n.165+1112T>G) | |
8 | g.11750197T= | CA1764081220 | GATA4 | c.870T= (p.Pro290=) c.873T= (p.Pro291=) c.252T= (p.Pro84=) c.867T= (p.Pro289=) c.165+1112T= (n.165+1112T=) | |
8 | g.11750198G>A | CA370313078 | GATA4 | c.871G>A (p.Val291Met) c.874G>A (p.Val292Met) c.253G>A (p.Val85Met) c.868G>A (p.Val290Met) c.165+1113G>A (n.165+1113G>A) | |
8 | g.11750198G>C | CA370313079 | GATA4 | c.871G>C (p.Val291Leu) c.874G>C (p.Val292Leu) c.253G>C (p.Val85Leu) c.868G>C (p.Val290Leu) c.165+1113G>C (n.165+1113G>C) | |
8 | g.11750198G>T | CA370313080 | GATA4 | c.871G>T (p.Val291Leu) c.874G>T (p.Val292Leu) c.253G>T (p.Val85Leu) c.868G>T (p.Val290Leu) c.165+1113G>T (n.165+1113G>T) | |
8 | g.11750199T>A | CA370313081 | GATA4 | c.872T>A (p.Val291Glu) c.875T>A (p.Val292Glu) c.254T>A (p.Val85Glu) c.869T>A (p.Val290Glu) c.165+1114T>A (n.165+1114T>A) | |
8 | g.11750199T>C | CA370313082 | GATA4 | c.872T>C (p.Val291Ala) c.875T>C (p.Val292Ala) c.254T>C (p.Val85Ala) c.869T>C (p.Val290Ala) c.165+1114T>C (n.165+1114T>C) | |
8 | g.11750199T>G | CA370313083 | GATA4 | c.872T>G (p.Val291Gly) c.875T>G (p.Val292Gly) c.254T>G (p.Val85Gly) c.869T>G (p.Val290Gly) c.165+1114T>G (n.165+1114T>G) | |
8 | g.11750200G>A | CA459311344 | GATA4 | c.873G>A (p.Val291=) c.876G>A (p.Val292=) c.255G>A (p.Val85=) c.870G>A (p.Val290=) c.165+1115G>A (n.165+1115G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11750200G>C | CA459311345 | GATA4 | c.873G>C (p.Val291=) c.876G>C (p.Val292=) c.255G>C (p.Val85=) c.870G>C (p.Val290=) c.165+1115G>C (n.165+1115G>C) | |
8 | g.11750200G= | CA1764081222 | GATA4 | c.873G= (p.Val291=) c.876G= (p.Val292=) c.255G= (p.Val85=) c.870G= (p.Val290=) c.165+1115G= (n.165+1115G=) | |
8 | g.11750200G>T | CA459311347 | GATA4 | c.873G>T (p.Val291=) c.876G>T (p.Val292=) c.255G>T (p.Val85=) c.870G>T (p.Val290=) c.165+1115G>T (n.165+1115G>T) | |
8 | g.11750201T>A | CA370313086 | GATA4 | c.874T>A (p.Cys292Ser) c.877T>A (p.Cys293Ser) c.256T>A (p.Cys86Ser) c.871T>A (p.Cys291Ser) c.165+1116T>A (n.165+1116T>A) | |
8 | g.11750201T>C | CA370313084 | GATA4 | c.874T>C (p.Cys292Arg) c.877T>C (p.Cys293Arg) c.256T>C (p.Cys86Arg) c.871T>C (p.Cys291Arg) c.165+1116T>C (n.165+1116T>C) | |
8 | g.11750201T>G | CA370313085 | GATA4 | c.874T>G (p.Cys292Gly) c.877T>G (p.Cys293Gly) c.256T>G (p.Cys86Gly) c.871T>G (p.Cys291Gly) c.165+1116T>G (n.165+1116T>G) | |
8 | g.11750202G>A | CA370313087 | GATA4 | c.875G>A (p.Cys292Tyr) c.878G>A (p.Cys293Tyr) c.257G>A (p.Cys86Tyr) c.872G>A (p.Cys291Tyr) c.165+1117G>A (n.165+1117G>A) | |
8 | g.11750202G>C | CA370313088 | GATA4 | c.875G>C (p.Cys292Ser) c.878G>C (p.Cys293Ser) c.257G>C (p.Cys86Ser) c.872G>C (p.Cys291Ser) c.165+1117G>C (n.165+1117G>C) | |
8 | g.11750202G>T | CA370313089 | GATA4 | c.875G>T (p.Cys292Phe) c.878G>T (p.Cys293Phe) c.257G>T (p.Cys86Phe) c.872G>T (p.Cys291Phe) c.165+1117G>T (n.165+1117G>T) | COSMIC |
8 | g.11750203C>A | CA370313090 | GATA4 | c.876C>A (p.Cys292Ter) c.879C>A (p.Cys293Ter) c.258C>A (p.Cys86Ter) c.873C>A (p.Cys291Ter) c.165+1118C>A (n.165+1118C>A) | |
8 | g.11750203C>G | CA370313091 | GATA4 | c.876C>G (p.Cys292Trp) c.879C>G (p.Cys293Trp) c.258C>G (p.Cys86Trp) c.873C>G (p.Cys291Trp) c.165+1118C>G (n.165+1118C>G) | ClinVar dbSNP |
8 | g.11750203C>T | CA459311354 | GATA4 | c.876C>T (p.Cys292=) c.879C>T (p.Cys293=) c.258C>T (p.Cys86=) c.873C>T (p.Cys291=) c.165+1118C>T (n.165+1118C>T) | ClinVar dbSNP |
8 | g.11750204A>C | CA370313092 | GATA4 | c.877A>C (p.Asn293His) c.880A>C (p.Asn294His) c.259A>C (p.Asn87His) c.874A>C (p.Asn292His) c.165+1119A>C (n.165+1119A>C) | |
8 | g.11750204A>G | CA370313093 | GATA4 | c.877A>G (p.Asn293Asp) c.880A>G (p.Asn294Asp) c.259A>G (p.Asn87Asp) c.874A>G (p.Asn292Asp) c.165+1119A>G (n.165+1119A>G) | |
8 | g.11750204A>T | CA370313094 | GATA4 | c.877A>T (p.Asn293Tyr) c.880A>T (p.Asn294Tyr) c.259A>T (p.Asn87Tyr) c.874A>T (p.Asn292Tyr) c.165+1119A>T (n.165+1119A>T) | |
8 | g.11750205A>C | CA370313095 | GATA4 | c.878A>C (p.Asn293Thr) c.881A>C (p.Asn294Thr) c.260A>C (p.Asn87Thr) c.875A>C (p.Asn292Thr) c.165+1120A>C (n.165+1120A>C) | |
8 | g.11750205A>G | CA370313096 | GATA4 | c.878A>G (p.Asn293Ser) c.881A>G (p.Asn294Ser) c.260A>G (p.Asn87Ser) c.875A>G (p.Asn292Ser) c.165+1120A>G (n.165+1120A>G) | |
8 | g.11750205A>T | CA370313097 | GATA4 | c.878A>T (p.Asn293Ile) c.881A>T (p.Asn294Ile) c.260A>T (p.Asn87Ile) c.875A>T (p.Asn292Ile) c.165+1120A>T (n.165+1120A>T) | |
8 | g.11750206T>A | CA370313099 | GATA4 | c.879T>A (p.Asn293Lys) c.882T>A (p.Asn294Lys) c.261T>A (p.Asn87Lys) c.876T>A (p.Asn292Lys) c.165+1121T>A (n.165+1121T>A) | |
8 | g.11750206T>C | CA459311363 | GATA4 | c.879T>C (p.Asn293=) c.882T>C (p.Asn294=) c.261T>C (p.Asn87=) c.876T>C (p.Asn292=) c.165+1121T>C (n.165+1121T>C) | dbSNP gnomAD v4 |
8 | g.11750206T>G | CA370313098 | GATA4 | c.879T>G (p.Asn293Lys) c.882T>G (p.Asn294Lys) c.261T>G (p.Asn87Lys) c.876T>G (p.Asn292Lys) c.165+1121T>G (n.165+1121T>G) | |
8 | g.11750207G>A | CA370313100 | GATA4 | c.880G>A (p.Ala294Thr) c.883G>A (p.Ala295Thr) c.262G>A (p.Ala88Thr) c.877G>A (p.Ala293Thr) c.165+1122G>A (n.165+1122G>A) | |
8 | g.11750207G>C | CA4630726 | GATA4 | c.880G>C (p.Ala294Pro) c.883G>C (p.Ala295Pro) c.262G>C (p.Ala88Pro) c.877G>C (p.Ala293Pro) c.165+1122G>C (n.165+1122G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11750207G= | CA1764081227 | GATA4 | c.880G= (p.Ala294=) c.883G= (p.Ala295=) c.262G= (p.Ala88=) c.877G= (p.Ala293=) c.165+1122G= (n.165+1122G=) | |
8 | g.11750207G>T | CA370313101 | GATA4 | c.880G>T (p.Ala294Ser) c.883G>T (p.Ala295Ser) c.262G>T (p.Ala88Ser) c.877G>T (p.Ala293Ser) c.165+1122G>T (n.165+1122G>T) | gnomAD v4 |
8 | g.11750208C>A | CA370313102 | GATA4 | c.881C>A (p.Ala294Asp) c.884C>A (p.Ala295Asp) c.263C>A (p.Ala88Asp) c.878C>A (p.Ala293Asp) c.165+1123C>A (n.165+1123C>A) | |
8 | g.11750208C>G | CA370313103 | GATA4 | c.881C>G (p.Ala294Gly) c.884C>G (p.Ala295Gly) c.263C>G (p.Ala88Gly) c.878C>G (p.Ala293Gly) c.165+1123C>G (n.165+1123C>G) | |
8 | g.11750208C>T | CA370313104 | GATA4 | c.881C>T (p.Ala294Val) c.884C>T (p.Ala295Val) c.263C>T (p.Ala88Val) c.878C>T (p.Ala293Val) c.165+1123C>T (n.165+1123C>T) | |
8 | g.11750209C>A | CA459311369 | GATA4 | c.882C>A (p.Ala294=) c.885C>A (p.Ala295=) c.264C>A (p.Ala88=) c.879C>A (p.Ala293=) c.165+1124C>A (n.165+1124C>A) | |
8 | g.11750209C= | CA1764081231 | GATA4 | c.882C= (p.Ala294=) c.885C= (p.Ala295=) c.264C= (p.Ala88=) c.879C= (p.Ala293=) c.165+1124C= (n.165+1124C=) | |
8 | g.11750209C>G | CA459311371 | GATA4 | c.882C>G (p.Ala294=) c.885C>G (p.Ala295=) c.264C>G (p.Ala88=) c.879C>G (p.Ala293=) c.165+1124C>G (n.165+1124C>G) | |
8 | g.11750209C>T | CA459311373 | GATA4 | c.882C>T (p.Ala294=) c.885C>T (p.Ala295=) c.264C>T (p.Ala88=) c.879C>T (p.Ala293=) c.165+1124C>T (n.165+1124C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750210T>A | CA370313105 | GATA4 | c.883T>A (p.Cys295Ser) c.886T>A (p.Cys296Ser) c.265T>A (p.Cys89Ser) c.880T>A (p.Cys294Ser) c.165+1125T>A (n.165+1125T>A) | |
8 | g.11750210T>C | CA370313106 | GATA4 | c.883T>C (p.Cys295Arg) c.886T>C (p.Cys296Arg) c.265T>C (p.Cys89Arg) c.880T>C (p.Cys294Arg) c.165+1125T>C (n.165+1125T>C) | |
8 | g.11750210T>G | CA370313107 | GATA4 | c.883T>G (p.Cys295Gly) c.886T>G (p.Cys296Gly) c.265T>G (p.Cys89Gly) c.880T>G (p.Cys294Gly) c.165+1125T>G (n.165+1125T>G) | |
8 | g.11750211G>A | CA370313108 | GATA4 | c.884G>A (p.Cys295Tyr) c.887G>A (p.Cys296Tyr) c.266G>A (p.Cys89Tyr) c.881G>A (p.Cys294Tyr) c.165+1126G>A (n.165+1126G>A) | |
8 | g.11750211G>C | CA370313109 | GATA4 | c.884G>C (p.Cys295Ser) c.887G>C (p.Cys296Ser) c.266G>C (p.Cys89Ser) c.881G>C (p.Cys294Ser) c.165+1126G>C (n.165+1126G>C) | ClinVar |
8 | g.11750211G>T | CA370313110 | GATA4 | c.884G>T (p.Cys295Phe) c.887G>T (p.Cys296Phe) c.266G>T (p.Cys89Phe) c.881G>T (p.Cys294Phe) c.165+1126G>T (n.165+1126G>T) | gnomAD v4 |
8 | g.11750212C>A | CA370313112 | GATA4 | c.885C>A (p.Cys295Ter) c.888C>A (p.Cys296Ter) c.267C>A (p.Cys89Ter) c.882C>A (p.Cys294Ter) c.165+1127C>A (n.165+1127C>A) | |
8 | g.11750212C= | CA1764081233 | GATA4 | c.885C= (p.Cys295=) c.888C= (p.Cys296=) c.267C= (p.Cys89=) c.882C= (p.Cys294=) c.165+1127C= (n.165+1127C=) | |
8 | g.11750212C>G | CA370313111 | GATA4 | c.885C>G (p.Cys295Trp) c.888C>G (p.Cys296Trp) c.267C>G (p.Cys89Trp) c.882C>G (p.Cys294Trp) c.165+1127C>G (n.165+1127C>G) | |
8 | g.11750212C>T | CA4630727 | GATA4 | c.885C>T (p.Cys295=) c.888C>T (p.Cys296=) c.267C>T (p.Cys89=) c.882C>T (p.Cys294=) c.165+1127C>T (n.165+1127C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750213G>A | CA212661 | GATA4 | c.886G>A (p.Gly296Ser) c.889G>A (p.Gly297Ser) c.268G>A (p.Gly90Ser) c.883G>A (p.Gly295Ser) c.165+1128G>A (n.165+1128G>A) | ClinVar dbSNP |
8 | g.11750213G>C | CA212673 | GATA4 | c.886G>C (p.Gly296Arg) c.889G>C (p.Gly297Arg) c.268G>C (p.Gly90Arg) c.883G>C (p.Gly295Arg) c.165+1128G>C (n.165+1128G>C) | ClinVar dbSNP |
8 | g.11750213G= | CA1764081244 | GATA4 | c.886G= (p.Gly296=) c.889G= (p.Gly297=) c.268G= (p.Gly90=) c.883G= (p.Gly295=) c.165+1128G= (n.165+1128G=) | |
8 | g.11750213G>T | CA212668 | GATA4 | c.886G>T (p.Gly296Cys) c.889G>T (p.Gly297Cys) c.268G>T (p.Gly90Cys) c.883G>T (p.Gly295Cys) c.165+1128G>T (n.165+1128G>T) | ClinVar dbSNP |
8 | g.11750214G>A | CA370313113 | GATA4 | c.887G>A (p.Gly296Asp) c.890G>A (p.Gly297Asp) c.269G>A (p.Gly90Asp) c.884G>A (p.Gly295Asp) c.165+1129G>A (n.165+1129G>A) | |
8 | g.11750214G>C | CA370313114 | GATA4 | c.887G>C (p.Gly296Ala) c.890G>C (p.Gly297Ala) c.269G>C (p.Gly90Ala) c.884G>C (p.Gly295Ala) c.165+1129G>C (n.165+1129G>C) | |
8 | g.11750214G>T | CA370313115 | GATA4 | c.887G>T (p.Gly296Val) c.890G>T (p.Gly297Val) c.269G>T (p.Gly90Val) c.884G>T (p.Gly295Val) c.165+1129G>T (n.165+1129G>T) | |
8 | g.11750215C>A | CA459311387 | GATA4 | c.888C>A (p.Gly296=) c.891C>A (p.Gly297=) c.270C>A (p.Gly90=) c.885C>A (p.Gly295=) c.165+1130C>A (n.165+1130C>A) | |
8 | g.11750215C>G | CA459311388 | GATA4 | c.888C>G (p.Gly296=) c.891C>G (p.Gly297=) c.270C>G (p.Gly90=) c.885C>G (p.Gly295=) c.165+1130C>G (n.165+1130C>G) | COSMIC |
8 | g.11750215C>T | CA459311390 | GATA4 | c.888C>T (p.Gly296=) c.891C>T (p.Gly297=) c.270C>T (p.Gly90=) c.885C>T (p.Gly295=) c.165+1130C>T (n.165+1130C>T) | gnomAD v4 |
8 | g.11750216C>A | CA370313116 | GATA4 | c.889C>A (p.Leu297Ile) c.892C>A (p.Leu298Ile) c.271C>A (p.Leu91Ile) c.886C>A (p.Leu296Ile) c.165+1131C>A (n.165+1131C>A) | |
8 | g.11750216C>G | CA370313117 | GATA4 | c.889C>G (p.Leu297Val) c.892C>G (p.Leu298Val) c.271C>G (p.Leu91Val) c.886C>G (p.Leu296Val) c.165+1131C>G (n.165+1131C>G) | |
8 | g.11750216C>T | CA370313118 | GATA4 | c.889C>T (p.Leu297Phe) c.892C>T (p.Leu298Phe) c.271C>T (p.Leu91Phe) c.886C>T (p.Leu296Phe) c.165+1131C>T (n.165+1131C>T) | |
8 | g.11750217T>A | CA370313119 | GATA4 | c.890T>A (p.Leu297His) c.893T>A (p.Leu298His) c.272T>A (p.Leu91His) c.887T>A (p.Leu296His) c.165+1132T>A (n.165+1132T>A) | |
8 | g.11750217T>C | CA370313120 | GATA4 | c.890T>C (p.Leu297Pro) c.893T>C (p.Leu298Pro) c.272T>C (p.Leu91Pro) c.887T>C (p.Leu296Pro) c.165+1132T>C (n.165+1132T>C) | |
8 | g.11750217T>G | CA370313121 | GATA4 | c.890T>G (p.Leu297Arg) c.893T>G (p.Leu298Arg) c.272T>G (p.Leu91Arg) c.887T>G (p.Leu296Arg) c.165+1132T>G (n.165+1132T>G) | |
8 | g.11750218C>A | CA459311397 | GATA4 | c.891C>A (p.Leu297=) c.894C>A (p.Leu298=) c.273C>A (p.Leu91=) c.888C>A (p.Leu296=) c.165+1133C>A (n.165+1133C>A) | |
8 | g.11750218C= | CA1764081246 | GATA4 | c.891C= (p.Leu297=) c.894C= (p.Leu298=) c.273C= (p.Leu91=) c.888C= (p.Leu296=) c.165+1133C= (n.165+1133C=) | |
8 | g.11750218C>G | CA4630728 | GATA4 | c.891C>G (p.Leu297=) c.894C>G (p.Leu298=) c.273C>G (p.Leu91=) c.888C>G (p.Leu296=) c.165+1133C>G (n.165+1133C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11750218C>T | CA459311399 | GATA4 | c.891C>T (p.Leu297=) c.894C>T (p.Leu298=) c.273C>T (p.Leu91=) c.888C>T (p.Leu296=) c.165+1133C>T (n.165+1133C>T) | |
8 | g.11750219T>A | CA370313123 | GATA4 | c.892T>A (p.Tyr298Asn) c.895T>A (p.Tyr299Asn) c.274T>A (p.Tyr92Asn) c.889T>A (p.Tyr297Asn) c.165+1134T>A (n.165+1134T>A) | |
8 | g.11750219T>C | CA370313124 | GATA4 | c.892T>C (p.Tyr298His) c.895T>C (p.Tyr299His) c.274T>C (p.Tyr92His) c.889T>C (p.Tyr297His) c.165+1134T>C (n.165+1134T>C) | |
8 | g.11750219T>G | CA370313122 | GATA4 | c.892T>G (p.Tyr298Asp) c.895T>G (p.Tyr299Asp) c.274T>G (p.Tyr92Asp) c.889T>G (p.Tyr297Asp) c.165+1134T>G (n.165+1134T>G) | |
8 | g.11750220A>C | CA370313127 | GATA4 | c.893A>C (p.Tyr298Ser) c.896A>C (p.Tyr299Ser) c.275A>C (p.Tyr92Ser) c.890A>C (p.Tyr297Ser) c.165+1135A>C (n.165+1135A>C) | |
8 | g.11750220A>G | CA370313125 | GATA4 | c.893A>G (p.Tyr298Cys) c.896A>G (p.Tyr299Cys) c.275A>G (p.Tyr92Cys) c.890A>G (p.Tyr297Cys) c.165+1135A>G (n.165+1135A>G) | ClinVar |
8 | g.11750220A>T | CA370313126 | GATA4 | c.893A>T (p.Tyr298Phe) c.896A>T (p.Tyr299Phe) c.275A>T (p.Tyr92Phe) c.890A>T (p.Tyr297Phe) c.165+1135A>T (n.165+1135A>T) | |
8 | g.11750221C>A | CA370313128 | GATA4 | c.894C>A (p.Tyr298Ter) c.897C>A (p.Tyr299Ter) c.276C>A (p.Tyr92Ter) c.891C>A (p.Tyr297Ter) c.165+1136C>A (n.165+1136C>A) | |
8 | g.11750221C= | CA1764081250 | GATA4 | c.894C= (p.Tyr298=) c.897C= (p.Tyr299=) c.276C= (p.Tyr92=) c.891C= (p.Tyr297=) c.165+1136C= (n.165+1136C=) | |
8 | g.11750221C>G | CA370313129 | GATA4 | c.894C>G (p.Tyr298Ter) c.897C>G (p.Tyr299Ter) c.276C>G (p.Tyr92Ter) c.891C>G (p.Tyr297Ter) c.165+1136C>G (n.165+1136C>G) | |
8 | g.11750221C>T | CA459311407 | GATA4 | c.894C>T (p.Tyr298=) c.897C>T (p.Tyr299=) c.276C>T (p.Tyr92=) c.891C>T (p.Tyr297=) c.165+1136C>T (n.165+1136C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11750222A= | CA1764081252 | GATA4 | c.895A= (p.Met299=) c.898A= (p.Met300=) c.277A= (p.Met93=) c.892A= (p.Met298=) c.165+1137A= (n.165+1137A=) | |
8 | g.11750222A>C | CA370313130 | GATA4 | c.895A>C (p.Met299Leu) c.898A>C (p.Met300Leu) c.277A>C (p.Met93Leu) c.892A>C (p.Met298Leu) c.165+1137A>C (n.165+1137A>C) | |
8 | g.11750222A>G | CA370313131 | GATA4 | c.895A>G (p.Met299Val) c.898A>G (p.Met300Val) c.277A>G (p.Met93Val) c.892A>G (p.Met298Val) c.165+1137A>G (n.165+1137A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750222A>T | CA370313132 | GATA4 | c.895A>T (p.Met299Leu) c.898A>T (p.Met300Leu) c.277A>T (p.Met93Leu) c.892A>T (p.Met298Leu) c.165+1137A>T (n.165+1137A>T) | |
8 | g.11750223T>A | CA370313133 | GATA4 | c.896T>A (p.Met299Lys) c.899T>A (p.Met300Lys) c.278T>A (p.Met93Lys) c.893T>A (p.Met298Lys) c.165+1138T>A (n.165+1138T>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11750223T>C | CA370313134 | GATA4 | c.896T>C (p.Met299Thr) c.899T>C (p.Met300Thr) c.278T>C (p.Met93Thr) c.893T>C (p.Met298Thr) c.165+1138T>C (n.165+1138T>C) | |
8 | g.11750223T>G | CA370313135 | GATA4 | c.896T>G (p.Met299Arg) c.899T>G (p.Met300Arg) c.278T>G (p.Met93Arg) c.893T>G (p.Met298Arg) c.165+1138T>G (n.165+1138T>G) | gnomAD v4 |
8 | g.11750223T= | CA1764081254 | GATA4 | c.896T= (p.Met299=) c.899T= (p.Met300=) c.278T= (p.Met93=) c.893T= (p.Met298=) c.165+1138T= (n.165+1138T=) | |
8 | g.11750224G>A | CA370313136 | GATA4 | c.897G>A (p.Met299Ile) c.900G>A (p.Met300Ile) c.279G>A (p.Met93Ile) c.894G>A (p.Met298Ile) c.165+1139G>A (n.165+1139G>A) | |
8 | g.11750224G>C | CA370313137 | GATA4 | c.897G>C (p.Met299Ile) c.900G>C (p.Met300Ile) c.279G>C (p.Met93Ile) c.894G>C (p.Met298Ile) c.165+1139G>C (n.165+1139G>C) | |
8 | g.11750224G= | CA1764081258 | GATA4 | c.897G= (p.Met299=) c.900G= (p.Met300=) c.279G= (p.Met93=) c.894G= (p.Met298=) c.165+1139G= (n.165+1139G=) | |
8 | g.11750224G>T | CA370313138 | GATA4 | c.897G>T (p.Met299Ile) c.900G>T (p.Met300Ile) c.279G>T (p.Met93Ile) c.894G>T (p.Met298Ile) c.165+1139G>T (n.165+1139G>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11750225A>C | CA370313139 | GATA4 | c.898A>C (p.Lys300Gln) c.901A>C (p.Lys301Gln) c.280A>C (p.Lys94Gln) c.895A>C (p.Lys299Gln) c.165+1140A>C (n.165+1140A>C) | |
8 | g.11750225A>G | CA370313141 | GATA4 | c.898A>G (p.Lys300Glu) c.901A>G (p.Lys301Glu) c.280A>G (p.Lys94Glu) c.895A>G (p.Lys299Glu) c.165+1140A>G (n.165+1140A>G) | |
8 | g.11750225A>T | CA370313140 | GATA4 | c.898A>T (p.Lys300Ter) c.901A>T (p.Lys301Ter) c.280A>T (p.Lys94Ter) c.895A>T (p.Lys299Ter) c.165+1140A>T (n.165+1140A>T) | |
8 | g.11750226A>C | CA370313142 | GATA4 | c.899A>C (p.Lys300Thr) c.902A>C (p.Lys301Thr) c.281A>C (p.Lys94Thr) c.896A>C (p.Lys299Thr) c.165+1141A>C (n.165+1141A>C) | |
8 | g.11750226A>G | CA370313143 | GATA4 | c.899A>G (p.Lys300Arg) c.902A>G (p.Lys301Arg) c.281A>G (p.Lys94Arg) c.896A>G (p.Lys299Arg) c.165+1141A>G (n.165+1141A>G) | |
8 | g.11750226A>T | CA370313144 | GATA4 | c.899A>T (p.Lys300Met) c.902A>T (p.Lys301Met) c.281A>T (p.Lys94Met) c.896A>T (p.Lys299Met) c.165+1141A>T (n.165+1141A>T) | |
8 | g.11750227G>A | CA459311421 | GATA4 | c.900G>A (p.Lys300=) c.903G>A (p.Lys301=) c.282G>A (p.Lys94=) c.897G>A (p.Lys299=) c.165+1142G>A (n.165+1142G>A) | ClinVar dbSNP gnomAD v4 |
8 | g.11750227G>C | CA370313145 | GATA4 | c.900G>C (p.Lys300Asn) c.903G>C (p.Lys301Asn) c.282G>C (p.Lys94Asn) c.897G>C (p.Lys299Asn) c.165+1142G>C (n.165+1142G>C) | |
8 | g.11750227G= | CA1764081262 | GATA4 | c.900G= (p.Lys300=) c.903G= (p.Lys301=) c.282G= (p.Lys94=) c.897G= (p.Lys299=) c.165+1142G= (n.165+1142G=) | |
8 | g.11750227G>T | CA370313146 | GATA4 | c.900G>T (p.Lys300Asn) c.903G>T (p.Lys301Asn) c.282G>T (p.Lys94Asn) c.897G>T (p.Lys299Asn) c.165+1142G>T (n.165+1142G>T) | gnomAD v4 |
8 | g.11750228C>A | CA370313147 | GATA4 | c.901C>A (p.Leu301Ile) c.904C>A (p.Leu302Ile) c.283C>A (p.Leu95Ile) c.898C>A (p.Leu300Ile) c.165+1143C>A (n.165+1143C>A) | |
8 | g.11750228C>G | CA370313148 | GATA4 | c.901C>G (p.Leu301Val) c.904C>G (p.Leu302Val) c.283C>G (p.Leu95Val) c.898C>G (p.Leu300Val) c.165+1143C>G (n.165+1143C>G) | |
8 | g.11750228C>T | CA370313149 | GATA4 | c.901C>T (p.Leu301Phe) c.904C>T (p.Leu302Phe) c.283C>T (p.Leu95Phe) c.898C>T (p.Leu300Phe) c.165+1143C>T (n.165+1143C>T) | |
8 | g.11750229T>A | CA370313150 | GATA4 | c.902T>A (p.Leu301His) c.905T>A (p.Leu302His) c.284T>A (p.Leu95His) c.899T>A (p.Leu300His) c.165+1144T>A (n.165+1144T>A) | |
8 | g.11750229T>C | CA370313151 | GATA4 | c.902T>C (p.Leu301Pro) c.905T>C (p.Leu302Pro) c.284T>C (p.Leu95Pro) c.899T>C (p.Leu300Pro) c.165+1144T>C (n.165+1144T>C) | |
8 | g.11750229T>G | CA370313152 | GATA4 | c.902T>G (p.Leu301Arg) c.905T>G (p.Leu302Arg) c.284T>G (p.Leu95Arg) c.899T>G (p.Leu300Arg) c.165+1144T>G (n.165+1144T>G) | |
8 | g.11750230C>A | CA459311427 | GATA4 | c.903C>A (p.Leu301=) c.906C>A (p.Leu302=) c.285C>A (p.Leu95=) c.900C>A (p.Leu300=) c.165+1145C>A (n.165+1145C>A) | |
8 | g.11750230C= | CA1764081264 | GATA4 | c.903C= (p.Leu301=) c.906C= (p.Leu302=) c.285C= (p.Leu95=) c.900C= (p.Leu300=) c.165+1145C= (n.165+1145C=) | |
8 | g.11750230C>G | CA459311428 | GATA4 | c.903C>G (p.Leu301=) c.906C>G (p.Leu302=) c.285C>G (p.Leu95=) c.900C>G (p.Leu300=) c.165+1145C>G (n.165+1145C>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11750230C>T | CA459311430 | GATA4 | c.903C>T (p.Leu301=) c.906C>T (p.Leu302=) c.285C>T (p.Leu95=) c.900C>T (p.Leu300=) c.165+1145C>T (n.165+1145C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750231C>A | CA370313154 | GATA4 | c.904C>A (p.His302Asn) c.907C>A (p.His303Asn) c.286C>A (p.His96Asn) c.901C>A (p.His301Asn) c.165+1146C>A (n.165+1146C>A) | gnomAD v4 |
8 | g.11750231C>G | CA370313155 | GATA4 | c.904C>G (p.His302Asp) c.907C>G (p.His303Asp) c.286C>G (p.His96Asp) c.901C>G (p.His301Asp) c.165+1146C>G (n.165+1146C>G) | |
8 | g.11750231C>T | CA370313153 | GATA4 | c.904C>T (p.His302Tyr) c.907C>T (p.His303Tyr) c.286C>T (p.His96Tyr) c.901C>T (p.His301Tyr) c.165+1146C>T (n.165+1146C>T) | |
8 | g.11750232A>C | CA370313156 | GATA4 | c.905A>C (p.His302Pro) c.908A>C (p.His303Pro) c.287A>C (p.His96Pro) c.902A>C (p.His301Pro) c.165+1147A>C (n.165+1147A>C) | |
8 | g.11750232A>G | CA370313157 | GATA4 | c.905A>G (p.His302Arg) c.908A>G (p.His303Arg) c.287A>G (p.His96Arg) c.902A>G (p.His301Arg) c.165+1147A>G (n.165+1147A>G) | |
8 | g.11750232A>T | CA370313158 | GATA4 | c.905A>T (p.His302Leu) c.908A>T (p.His303Leu) c.287A>T (p.His96Leu) c.902A>T (p.His301Leu) c.165+1147A>T (n.165+1147A>T) | |
8 | g.11750233C>A | CA370313159 | GATA4 | c.906C>A (p.His302Gln) c.909C>A (p.His303Gln) c.288C>A (p.His96Gln) c.903C>A (p.His301Gln) c.165+1148C>A (n.165+1148C>A) | |
8 | g.11750233C= | CA1764081267 | GATA4 | c.906C= (p.His302=) c.909C= (p.His303=) c.288C= (p.His96=) c.903C= (p.His301=) c.165+1148C= (n.165+1148C=) | |
8 | g.11750233C>G | CA370313160 | GATA4 | c.906C>G (p.His302Gln) c.909C>G (p.His303Gln) c.288C>G (p.His96Gln) c.903C>G (p.His301Gln) c.165+1148C>G (n.165+1148C>G) | |
8 | g.11750233C>T | CA4630729 | GATA4 | c.906C>T (p.His302=) c.909C>T (p.His303=) c.288C>T (p.His96=) c.903C>T (p.His301=) c.165+1148C>T (n.165+1148C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750234G>A | CA370313161 | GATA4 | c.907G>A (p.Gly303Arg) c.910G>A (p.Gly304Arg) c.289G>A (p.Gly97Arg) c.904G>A (p.Gly302Arg) c.165+1149G>A (n.165+1149G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750234G>C | CA370313162 | GATA4 | c.907G>C (p.Gly303Arg) c.910G>C (p.Gly304Arg) c.289G>C (p.Gly97Arg) c.904G>C (p.Gly302Arg) c.165+1149G>C (n.165+1149G>C) | |
8 | g.11750234G= | CA1764081272 | GATA4 | c.907G= (p.Gly303=) c.910G= (p.Gly304=) c.289G= (p.Gly97=) c.904G= (p.Gly302=) c.165+1149G= (n.165+1149G=) | |
8 | g.11750234G>T | CA370313163 | GATA4 | c.907G>T (p.Gly303Trp) c.910G>T (p.Gly304Trp) c.289G>T (p.Gly97Trp) c.904G>T (p.Gly302Trp) c.165+1149G>T (n.165+1149G>T) | gnomAD v4 |
8 | g.11750237del | CA2686137363 | GATA4 | c.909+1del c.912+1del c.291+1del c.906+1del c.165+1152del (n.165+1152del) | gnomAD v4 |
8 | g.11750235G>A | CA370313164 | GATA4 | c.908G>A (p.Gly303Glu) c.911G>A (p.Gly304Glu) c.290G>A (p.Gly97Glu) c.905G>A (p.Gly302Glu) c.165+1150G>A (n.165+1150G>A) | |
8 | g.11750235G>C | CA370313165 | GATA4 | c.908G>C (p.Gly303Ala) c.911G>C (p.Gly304Ala) c.290G>C (p.Gly97Ala) c.905G>C (p.Gly302Ala) c.165+1150G>C (n.165+1150G>C) | |
8 | g.11750235G>T | CA370313166 | GATA4 | c.908G>T (p.Gly303Val) c.911G>T (p.Gly304Val) c.290G>T (p.Gly97Val) c.905G>T (p.Gly302Val) c.165+1150G>T (n.165+1150G>T) | |
8 | g.11750236G>A | CA4630730 | GATA4 | c.909G>A (p.Gly303=) c.912G>A (p.Gly304=) c.291G>A (p.Gly97=) c.906G>A (p.Gly302=) c.165+1151G>A (n.165+1151G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11750236G>C | CA459311436 | GATA4 | c.909G>C (p.Gly303=) c.912G>C (p.Gly304=) c.291G>C (p.Gly97=) c.906G>C (p.Gly302=) c.165+1151G>C (n.165+1151G>C) | |
8 | g.11750236G= | CA1764081274 | GATA4 | c.909G= (p.Gly303=) c.912G= (p.Gly304=) c.291G= (p.Gly97=) c.906G= (p.Gly302=) c.165+1151G= (n.165+1151G=) | |
8 | g.11750236G>T | CA459311435 | GATA4 | c.909G>T (p.Gly303=) c.912G>T (p.Gly304=) c.291G>T (p.Gly97=) c.906G>T (p.Gly302=) c.165+1151G>T (n.165+1151G>T) | |
8 | g.11750237G>A | CA370313168 | GATA4 | c.909+1G>A (n.909+1G>A) c.912+1G>A (n.912+1G>A) c.291+1G>A (n.291+1G>A) c.906+1G>A (n.906+1G>A) c.165+1152G>A (n.165+1152G>A) | |
8 | g.11750237G>C | CA370313169 | GATA4 | c.909+1G>C (n.909+1G>C) c.912+1G>C (n.912+1G>C) c.291+1G>C (n.291+1G>C) c.906+1G>C (n.906+1G>C) c.165+1152G>C (n.165+1152G>C) | |
8 | g.11750237G>T | CA370313167 | GATA4 | c.909+1G>T (n.909+1G>T) c.912+1G>T (n.912+1G>T) c.291+1G>T (n.291+1G>T) c.906+1G>T (n.906+1G>T) c.165+1152G>T (n.165+1152G>T) | COSMIC |
8 | g.11750238T>A | CA370313170 | GATA4 | c.909+2T>A (n.909+2T>A) c.912+2T>A (n.912+2T>A) c.291+2T>A (n.291+2T>A) c.906+2T>A (n.906+2T>A) c.165+1153T>A (n.165+1153T>A) | |
8 | g.11750238T>C | CA370313171 | GATA4 | c.909+2T>C (n.909+2T>C) c.912+2T>C (n.912+2T>C) c.291+2T>C (n.291+2T>C) c.906+2T>C (n.906+2T>C) c.165+1153T>C (n.165+1153T>C) | |
8 | g.11750238T>G | CA370313172 | GATA4 | c.909+2T>G (n.909+2T>G) c.912+2T>G (n.912+2T>G) c.291+2T>G (n.291+2T>G) c.906+2T>G (n.906+2T>G) c.165+1153T>G (n.165+1153T>G) | |
8 | g.11750239A= | CA1764081276 | GATA4 | c.909+3A= (n.909+3A=) c.912+3A= (n.912+3A=) c.291+3A= (n.291+3A=) c.906+3A= (n.906+3A=) c.165+1154A= (n.165+1154A=) | |
8 | g.11750239A>G | CA579787892 | GATA4 | c.909+3A>G (n.909+3A>G) c.912+3A>G (n.912+3A>G) c.291+3A>G (n.291+3A>G) c.906+3A>G (n.906+3A>G) c.165+1154A>G (n.165+1154A>G) | dbSNP gnomAD v2 |
8 | g.11750240C>A | CA4630731 | GATA4 | c.909+4C>A (n.909+4C>A) c.912+4C>A (n.912+4C>A) c.291+4C>A (n.291+4C>A) c.906+4C>A (n.906+4C>A) c.165+1155C>A (n.165+1155C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750240C= | CA1764081282 | GATA4 | c.909+4C= (n.909+4C=) c.912+4C= (n.912+4C=) c.291+4C= (n.291+4C=) c.906+4C= (n.906+4C=) c.165+1155C= (n.165+1155C=) | |
8 | g.11750240C>T | CA4630732 | GATA4 | c.909+4C>T (n.909+4C>T) c.912+4C>T (n.912+4C>T) c.291+4C>T (n.291+4C>T) c.906+4C>T (n.906+4C>T) c.165+1155C>T (n.165+1155C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750241G>A | CA579787897 | GATA4 | c.909+5G>A (n.909+5G>A) c.912+5G>A (n.912+5G>A) c.291+5G>A (n.291+5G>A) c.906+5G>A (n.906+5G>A) c.165+1156G>A (n.165+1156G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750241G= | CA1764081285 | GATA4 | c.909+5G= (n.909+5G=) c.912+5G= (n.912+5G=) c.291+5G= (n.291+5G=) c.906+5G= (n.906+5G=) c.165+1156G= (n.165+1156G=) | |
8 | g.11750241G>T | CA4630733 | GATA4 | c.909+5G>T (n.909+5G>T) c.912+5G>T (n.912+5G>T) c.291+5G>T (n.291+5G>T) c.906+5G>T (n.906+5G>T) c.165+1156G>T (n.165+1156G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |