Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.11750068C= | CA1764081011 | GATA4 | c.784-43C= (n.784-43C=) c.787-43C= (n.787-43C=) c.166-43C= (n.166-43C=) c.781-43C= (n.781-43C=) c.165+983C= (n.165+983C=) | |
8 | g.11750068C>T | CA579787809 | GATA4 | c.784-43C>T (n.784-43C>T) c.787-43C>T (n.787-43C>T) c.166-43C>T (n.166-43C>T) c.781-43C>T (n.781-43C>T) c.165+983C>T (n.165+983C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11750069A= | CA1764081015 | GATA4 | c.784-42A= (n.784-42A=) c.787-42A= (n.787-42A=) c.166-42A= (n.166-42A=) c.781-42A= (n.781-42A=) c.165+984A= (n.165+984A=) | |
8 | g.11750069A>C | CA1110739926 | GATA4 | c.784-42A>C (n.784-42A>C) c.787-42A>C (n.787-42A>C) c.166-42A>C (n.166-42A>C) c.781-42A>C (n.781-42A>C) c.165+984A>C (n.165+984A>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11750069A>G | CA4630692 | GATA4 | c.784-42A>G (n.784-42A>G) c.787-42A>G (n.787-42A>G) c.166-42A>G (n.166-42A>G) c.781-42A>G (n.781-42A>G) c.165+984A>G (n.165+984A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11750070C= | CA1764081017 | GATA4 | c.784-41C= (n.784-41C=) c.787-41C= (n.787-41C=) c.166-41C= (n.166-41C=) c.781-41C= (n.781-41C=) c.165+985C= (n.165+985C=) | |
8 | g.11750070C>T | CA4630693 | GATA4 | c.784-41C>T (n.784-41C>T) c.787-41C>T (n.787-41C>T) c.166-41C>T (n.166-41C>T) c.781-41C>T (n.781-41C>T) c.165+985C>T (n.165+985C>T) | dbSNP ExAC gnomAD v2 |
8 | g.11750071C>A | CA2579094115 | GATA4 | c.784-40C>A (n.784-40C>A) c.787-40C>A (n.787-40C>A) c.166-40C>A (n.166-40C>A) c.781-40C>A (n.781-40C>A) c.165+986C>A (n.165+986C>A) | |
8 | g.11750071C= | CA1764081019 | GATA4 | c.784-40C= (n.784-40C=) c.787-40C= (n.787-40C=) c.166-40C= (n.166-40C=) c.781-40C= (n.781-40C=) c.165+986C= (n.165+986C=) | |
8 | g.11750071C>G | CA579787815 | GATA4 | c.784-40C>G (n.784-40C>G) c.787-40C>G (n.787-40C>G) c.166-40C>G (n.166-40C>G) c.781-40C>G (n.781-40C>G) c.165+986C>G (n.165+986C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750072T>A | CA2839314631 | GATA4 | c.784-39T>A (n.784-39T>A) c.787-39T>A (n.787-39T>A) c.166-39T>A (n.166-39T>A) c.781-39T>A (n.781-39T>A) c.165+987T>A (n.165+987T>A) | |
8 | g.11750075del | CA2686137328 | GATA4 | c.784-36del (n.784-36del) c.787-36del (n.787-36del) c.166-36del (n.166-36del) c.781-36del (n.781-36del) c.165+990del (n.165+990del) | gnomAD v4 |
8 | g.11750074T>A | CA2579094116 | GATA4 | c.784-37T>A (n.784-37T>A) c.787-37T>A (n.787-37T>A) c.166-37T>A (n.166-37T>A) c.781-37T>A (n.781-37T>A) c.165+989T>A (n.165+989T>A) | gnomAD v4 |
8 | g.11750074T>C | CA2716592373 | GATA4 | c.784-37T>C (n.784-37T>C) c.787-37T>C (n.787-37T>C) c.166-37T>C (n.166-37T>C) c.781-37T>C (n.781-37T>C) c.165+989T>C (n.165+989T>C) | dbSNP |
8 | g.11750076A>G | CA2686137330 | GATA4 | c.784-35A>G (n.784-35A>G) c.787-35A>G (n.787-35A>G) c.166-35A>G (n.166-35A>G) c.781-35A>G (n.781-35A>G) c.165+991A>G (n.165+991A>G) | gnomAD v4 |
8 | g.11750077C= | CA1764081021 | GATA4 | c.784-34C= (n.784-34C=) c.787-34C= (n.787-34C=) c.166-34C= (n.166-34C=) c.781-34C= (n.781-34C=) c.165+992C= (n.165+992C=) | |
8 | g.11750077C>T | CA4630694 | GATA4 | c.784-34C>T (n.784-34C>T) c.787-34C>T (n.787-34C>T) c.166-34C>T (n.166-34C>T) c.781-34C>T (n.781-34C>T) c.165+992C>T (n.165+992C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750078T>A | CA2686137331 | GATA4 | c.784-33T>A (n.784-33T>A) c.787-33T>A (n.787-33T>A) c.166-33T>A (n.166-33T>A) c.781-33T>A (n.781-33T>A) c.165+993T>A (n.165+993T>A) | gnomAD v4 |
8 | g.11750078T>C | CA4630695 | GATA4 | c.784-33T>C (n.784-33T>C) c.787-33T>C (n.787-33T>C) c.166-33T>C (n.166-33T>C) c.781-33T>C (n.781-33T>C) c.165+993T>C (n.165+993T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750078T>G | CA370312895 | GATA4 | c.784-33T>G (n.784-33T>G) c.787-33T>G (n.787-33T>G) c.166-33T>G (n.166-33T>G) c.781-33T>G (n.781-33T>G) c.165+993T>G (n.165+993T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750078T= | CA1764081024 | GATA4 | c.784-33T= (n.784-33T=) c.787-33T= (n.787-33T=) c.166-33T= (n.166-33T=) c.781-33T= (n.781-33T=) c.165+993T= (n.165+993T=) | |
8 | g.11750080G>A | CA2686137332 | GATA4 | c.784-31G>A (n.784-31G>A) c.787-31G>A (n.787-31G>A) c.166-31G>A (n.166-31G>A) c.781-31G>A (n.781-31G>A) c.165+995G>A (n.165+995G>A) | gnomAD v4 |
8 | g.11750081G= | CA1764081026 | GATA4 | c.784-30G= (n.784-30G=) c.787-30G= (n.787-30G=) c.166-30G= (n.166-30G=) c.781-30G= (n.781-30G=) c.165+996G= (n.165+996G=) | |
8 | g.11750081G>T | CA1764081027 | GATA4 | c.784-30G>T (n.784-30G>T) c.787-30G>T (n.787-30G>T) c.166-30G>T (n.166-30G>T) c.781-30G>T (n.781-30G>T) c.165+996G>T (n.165+996G>T) | dbSNP gnomAD v4 |
8 | g.11750082A= | CA1764081029 | GATA4 | c.784-29A= (n.784-29A=) c.787-29A= (n.787-29A=) c.166-29A= (n.166-29A=) c.781-29A= (n.781-29A=) c.165+997A= (n.165+997A=) | |
8 | g.11750082A>G | CA4630696 | GATA4 | c.784-29A>G (n.784-29A>G) c.787-29A>G (n.787-29A>G) c.166-29A>G (n.166-29A>G) c.781-29A>G (n.781-29A>G) c.165+997A>G (n.165+997A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11750083C>A | CA846154937 | GATA4 | c.784-28C>A (n.784-28C>A) c.787-28C>A (n.787-28C>A) c.166-28C>A (n.166-28C>A) c.781-28C>A (n.781-28C>A) c.165+998C>A (n.165+998C>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.11750083C= | CA1764081030 | GATA4 | c.784-28C= (n.784-28C=) c.787-28C= (n.787-28C=) c.166-28C= (n.166-28C=) c.781-28C= (n.781-28C=) c.165+998C= (n.165+998C=) | |
8 | g.11750084A= | CA1764081032 | GATA4 | c.784-27A= (n.784-27A=) c.787-27A= (n.787-27A=) c.166-27A= (n.166-27A=) c.781-27A= (n.781-27A=) c.165+999A= (n.165+999A=) | |
8 | g.11750084A>G | CA4630697 | GATA4 | c.784-27A>G (n.784-27A>G) c.787-27A>G (n.787-27A>G) c.166-27A>G (n.166-27A>G) c.781-27A>G (n.781-27A>G) c.165+999A>G (n.165+999A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11750084A>T | CA1764081033 | GATA4 | c.784-27A>T (n.784-27A>T) c.787-27A>T (n.787-27A>T) c.166-27A>T (n.166-27A>T) c.781-27A>T (n.781-27A>T) c.165+999A>T (n.165+999A>T) | dbSNP |
8 | g.11750085T>C | CA4630698 | GATA4 | c.784-26T>C (n.784-26T>C) c.787-26T>C (n.787-26T>C) c.166-26T>C (n.166-26T>C) c.781-26T>C (n.781-26T>C) c.165+1000T>C (n.165+1000T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750085T= | CA1764081036 | GATA4 | c.784-26T= (n.784-26T=) c.787-26T= (n.787-26T=) c.166-26T= (n.166-26T=) c.781-26T= (n.781-26T=) c.165+1000T= (n.165+1000T=) | |
8 | g.11750086G>A | CA579787821 | GATA4 | c.784-25G>A (n.784-25G>A) c.787-25G>A (n.787-25G>A) c.166-25G>A (n.166-25G>A) c.781-25G>A (n.781-25G>A) c.165+1001G>A (n.165+1001G>A) | dbSNP gnomAD v2 |
8 | g.11750086G= | CA1764081037 | GATA4 | c.784-25G= (n.784-25G=) c.787-25G= (n.787-25G=) c.166-25G= (n.166-25G=) c.781-25G= (n.781-25G=) c.165+1001G= (n.165+1001G=) | |
8 | g.11750086G>T | CA846154942 | GATA4 | c.784-25G>T (n.784-25G>T) c.787-25G>T (n.787-25G>T) c.166-25G>T (n.166-25G>T) c.781-25G>T (n.781-25G>T) c.165+1001G>T (n.165+1001G>T) | dbSNP |
8 | g.11750087A>G | CA2579094117 | GATA4 | c.784-24A>G (n.784-24A>G) c.787-24A>G (n.787-24A>G) c.166-24A>G (n.166-24A>G) c.781-24A>G (n.781-24A>G) c.165+1002A>G (n.165+1002A>G) | gnomAD v4 |
8 | g.11750089G>A | CA579787823 | GATA4 | c.784-22G>A (n.784-22G>A) c.787-22G>A (n.787-22G>A) c.166-22G>A (n.166-22G>A) c.781-22G>A (n.781-22G>A) c.165+1004G>A (n.165+1004G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11750089G= | CA1764081040 | GATA4 | c.784-22G= (n.784-22G=) c.787-22G= (n.787-22G=) c.166-22G= (n.166-22G=) c.781-22G= (n.781-22G=) c.165+1004G= (n.165+1004G=) | |
8 | g.11750090C= | CA1764081041 | GATA4 | c.784-21C= (n.784-21C=) c.787-21C= (n.787-21C=) c.166-21C= (n.166-21C=) c.781-21C= (n.781-21C=) c.165+1005C= (n.165+1005C=) | |
8 | g.11750090C>G | CA2686137343 | GATA4 | c.784-21C>G (n.784-21C>G) c.787-21C>G (n.787-21C>G) c.166-21C>G (n.166-21C>G) c.781-21C>G (n.781-21C>G) c.165+1005C>G (n.165+1005C>G) | gnomAD v4 |
8 | g.11750090C>T | CA4630699 | GATA4 | c.784-21C>T (n.784-21C>T) c.787-21C>T (n.787-21C>T) c.166-21C>T (n.166-21C>T) c.781-21C>T (n.781-21C>T) c.165+1005C>T (n.165+1005C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750091A>G | CA2573142546 | GATA4 | c.784-20A>G (n.784-20A>G) c.787-20A>G (n.787-20A>G) c.166-20A>G (n.166-20A>G) c.781-20A>G (n.781-20A>G) c.165+1006A>G (n.165+1006A>G) | ClinVar dbSNP gnomAD v4 |
8 | g.11750095G>A | CA4630700 | GATA4 | c.784-16G>A (n.784-16G>A) c.787-16G>A (n.787-16G>A) c.166-16G>A (n.166-16G>A) c.781-16G>A (n.781-16G>A) c.165+1010G>A (n.165+1010G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750095G= | CA1764081044 | GATA4 | c.784-16G= (n.784-16G=) c.787-16G= (n.787-16G=) c.166-16G= (n.166-16G=) c.781-16G= (n.781-16G=) c.165+1010G= (n.165+1010G=) | |
8 | g.11750097T>A | CA2686137347 | GATA4 | c.784-14T>A (n.784-14T>A) c.787-14T>A (n.787-14T>A) c.166-14T>A (n.166-14T>A) c.781-14T>A (n.781-14T>A) c.165+1012T>A (n.165+1012T>A) | gnomAD v4 |
8 | g.11750099C= | CA1764081046 | GATA4 | c.784-12C= (n.784-12C=) c.787-12C= (n.787-12C=) c.166-12C= (n.166-12C=) c.781-12C= (n.781-12C=) c.165+1014C= (n.165+1014C=) | |
8 | g.11750099C>G | CA846154948 | GATA4 | c.784-12C>G (n.784-12C>G) c.787-12C>G (n.787-12C>G) c.166-12C>G (n.166-12C>G) c.781-12C>G (n.781-12C>G) c.165+1014C>G (n.165+1014C>G) | dbSNP |
8 | g.11750099C>T | CA4630701 | GATA4 | c.784-12C>T (n.784-12C>T) c.787-12C>T (n.787-12C>T) c.166-12C>T (n.166-12C>T) c.781-12C>T (n.781-12C>T) c.165+1014C>T (n.165+1014C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750100C= | CA1764081048 | GATA4 | c.784-11C= (n.784-11C=) c.787-11C= (n.787-11C=) c.166-11C= (n.166-11C=) c.781-11C= (n.781-11C=) c.165+1015C= (n.165+1015C=) | |
8 | g.11750100C>T | CA1764081049 | GATA4 | c.784-11C>T (n.784-11C>T) c.787-11C>T (n.787-11C>T) c.166-11C>T (n.166-11C>T) c.781-11C>T (n.781-11C>T) c.165+1015C>T (n.165+1015C>T) | ClinVar dbSNP gnomAD v4 |
8 | g.11750101T>C | CA2686137349 | GATA4 | c.784-10T>C (n.784-10T>C) c.787-10T>C (n.787-10T>C) c.166-10T>C (n.166-10T>C) c.781-10T>C (n.781-10T>C) c.165+1016T>C (n.165+1016T>C) | gnomAD v4 |
8 | g.11750102G>A | CA1764081051 | GATA4 | c.784-9G>A (n.784-9G>A) c.787-9G>A (n.787-9G>A) c.166-9G>A (n.166-9G>A) c.781-9G>A (n.781-9G>A) c.165+1017G>A (n.165+1017G>A) | dbSNP gnomAD v4 |
8 | g.11750102G>C | CA1764081053 | GATA4 | c.784-9G>C (n.784-9G>C) c.787-9G>C (n.787-9G>C) c.166-9G>C (n.166-9G>C) c.781-9G>C (n.781-9G>C) c.165+1017G>C (n.165+1017G>C) | dbSNP gnomAD v4 |
8 | g.11750102G= | CA1764081050 | GATA4 | c.784-9G= (n.784-9G=) c.787-9G= (n.787-9G=) c.166-9G= (n.166-9G=) c.781-9G= (n.781-9G=) c.165+1017G= (n.165+1017G=) | |
8 | g.11750102G>T | CA2686137352 | GATA4 | c.784-9G>T (n.784-9G>T) c.787-9G>T (n.787-9G>T) c.166-9G>T (n.166-9G>T) c.781-9G>T (n.781-9G>T) c.165+1017G>T (n.165+1017G>T) | gnomAD v4 |
8 | g.11750103T>C | CA846154949 | GATA4 | c.784-8T>C (n.784-8T>C) c.787-8T>C (n.787-8T>C) c.166-8T>C (n.166-8T>C) c.781-8T>C (n.781-8T>C) c.165+1018T>C (n.165+1018T>C) | dbSNP |
8 | g.11750103T= | CA1764081055 | GATA4 | c.784-8T= (n.784-8T=) c.787-8T= (n.787-8T=) c.166-8T= (n.166-8T=) c.781-8T= (n.781-8T=) c.165+1018T= (n.165+1018T=) | |
8 | g.11750104C= | CA1764081058 | GATA4 | c.784-7C= (n.784-7C=) c.787-7C= (n.787-7C=) c.166-7C= (n.166-7C=) c.781-7C= (n.781-7C=) c.165+1019C= (n.165+1019C=) | |
8 | g.11750104C>G | CA4630702 | GATA4 | c.784-7C>G (n.784-7C>G) c.787-7C>G (n.787-7C>G) c.166-7C>G (n.166-7C>G) c.781-7C>G (n.781-7C>G) c.165+1019C>G (n.165+1019C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11750104C>T | CA2686137354 | GATA4 | c.784-7C>T (n.784-7C>T) c.787-7C>T (n.787-7C>T) c.166-7C>T (n.166-7C>T) c.781-7C>T (n.781-7C>T) c.165+1019C>T (n.165+1019C>T) | gnomAD v4 |
8 | g.11750107G>A | CA4630703 | GATA4 | c.784-4G>A (n.784-4G>A) c.787-4G>A (n.787-4G>A) c.166-4G>A (n.166-4G>A) c.781-4G>A (n.781-4G>A) c.165+1022G>A (n.165+1022G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750107G= | CA1764081060 | GATA4 | c.784-4G= (n.784-4G=) c.787-4G= (n.787-4G=) c.166-4G= (n.166-4G=) c.781-4G= (n.781-4G=) c.165+1022G= (n.165+1022G=) | |
8 | g.11750108C= | CA1764081064 | GATA4 | c.784-3C= (n.784-3C=) c.787-3C= (n.787-3C=) c.166-3C= (n.166-3C=) c.781-3C= (n.781-3C=) c.165+1023C= (n.165+1023C=) | |
8 | g.11750108C>T | CA4630704 | GATA4 | c.784-3C>T (n.784-3C>T) c.787-3C>T (n.787-3C>T) c.166-3C>T (n.166-3C>T) c.781-3C>T (n.781-3C>T) c.165+1023C>T (n.165+1023C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750109A>C | CA370312896 | GATA4 | c.784-2A>C (n.784-2A>C) c.787-2A>C (n.787-2A>C) c.166-2A>C (n.166-2A>C) c.781-2A>C (n.781-2A>C) c.165+1024A>C (n.165+1024A>C) | |
8 | g.11750109A>G | CA370312897 | GATA4 | c.784-2A>G (n.784-2A>G) c.787-2A>G (n.787-2A>G) c.166-2A>G (n.166-2A>G) c.781-2A>G (n.781-2A>G) c.165+1024A>G (n.165+1024A>G) | |
8 | g.11750109A>T | CA370312898 | GATA4 | c.784-2A>T (n.784-2A>T) c.787-2A>T (n.787-2A>T) c.166-2A>T (n.166-2A>T) c.781-2A>T (n.781-2A>T) c.165+1024A>T (n.165+1024A>T) | |
8 | g.11750110G>A | CA370312899 | GATA4 | c.784-1G>A (n.784-1G>A) c.787-1G>A (n.787-1G>A) c.166-1G>A (n.166-1G>A) c.781-1G>A (n.781-1G>A) c.165+1025G>A (n.165+1025G>A) | |
8 | g.11750110G>C | CA370312900 | GATA4 | c.784-1G>C (n.784-1G>C) c.787-1G>C (n.787-1G>C) c.166-1G>C (n.166-1G>C) c.781-1G>C (n.781-1G>C) c.165+1025G>C (n.165+1025G>C) | |
8 | g.11750110G>T | CA370312901 | GATA4 | c.784-1G>T (n.784-1G>T) c.787-1G>T (n.787-1G>T) c.166-1G>T (n.166-1G>T) c.781-1G>T (n.781-1G>T) c.165+1025G>T (n.165+1025G>T) | |
8 | g.11750111T>A | CA370312904 | GATA4 | c.784T>A (p.Ser262Thr) c.787T>A (p.Ser263Thr) c.166T>A (p.Ser56Thr) c.781T>A (p.Ser261Thr) c.165+1026T>A (n.165+1026T>A) | |
8 | g.11750111T>C | CA370312903 | GATA4 | c.784T>C (p.Ser262Pro) c.787T>C (p.Ser263Pro) c.166T>C (p.Ser56Pro) c.781T>C (p.Ser261Pro) c.165+1026T>C (n.165+1026T>C) | |
8 | g.11750111T>G | CA370312902 | GATA4 | c.784T>G (p.Ser262Ala) c.787T>G (p.Ser263Ala) c.166T>G (p.Ser56Ala) c.781T>G (p.Ser261Ala) c.165+1026T>G (n.165+1026T>G) | |
8 | g.11750112C>A | CA370312906 | GATA4 | c.785C>A (p.Ser262Tyr) c.788C>A (p.Ser263Tyr) c.167C>A (p.Ser56Tyr) c.782C>A (p.Ser261Tyr) c.165+1027C>A (n.165+1027C>A) | |
8 | g.11750112C>G | CA370312905 | GATA4 | c.785C>G (p.Ser262Cys) c.788C>G (p.Ser263Cys) c.167C>G (p.Ser56Cys) c.782C>G (p.Ser261Cys) c.165+1027C>G (n.165+1027C>G) | |
8 | g.11750112C>T | CA370312907 | GATA4 | c.785C>T (p.Ser262Phe) c.788C>T (p.Ser263Phe) c.167C>T (p.Ser56Phe) c.782C>T (p.Ser261Phe) c.165+1027C>T (n.165+1027C>T) | |
8 | g.11750113C>A | CA459311088 | GATA4 | c.786C>A (p.Ser262=) c.789C>A (p.Ser263=) c.168C>A (p.Ser56=) c.783C>A (p.Ser261=) c.165+1028C>A (n.165+1028C>A) | |
8 | g.11750113C= | CA1764081069 | GATA4 | c.786C= (p.Ser262=) c.789C= (p.Ser263=) c.168C= (p.Ser56=) c.783C= (p.Ser261=) c.165+1028C= (n.165+1028C=) | |
8 | g.11750113C>G | CA459311085 | GATA4 | c.786C>G (p.Ser262=) c.789C>G (p.Ser263=) c.168C>G (p.Ser56=) c.783C>G (p.Ser261=) c.165+1028C>G (n.165+1028C>G) | |
8 | g.11750113C>T | CA4630705 | GATA4 | c.786C>T (p.Ser262=) c.789C>T (p.Ser263=) c.168C>T (p.Ser56=) c.783C>T (p.Ser261=) c.165+1028C>T (n.165+1028C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.11750114G>A | CA172114363 | GATA4 | c.787G>A (p.Ala263Thr) c.790G>A (p.Ala264Thr) c.169G>A (p.Ala57Thr) c.784G>A (p.Ala262Thr) c.165+1029G>A (n.165+1029G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.11750114G>C | CA370312908 | GATA4 | c.787G>C (p.Ala263Pro) c.790G>C (p.Ala264Pro) c.169G>C (p.Ala57Pro) c.784G>C (p.Ala262Pro) c.165+1029G>C (n.165+1029G>C) | |
8 | g.11750114G= | CA1764081074 | GATA4 | c.787G= (p.Ala263=) c.790G= (p.Ala264=) c.169G= (p.Ala57=) c.784G= (p.Ala262=) c.165+1029G= (n.165+1029G=) | |
8 | g.11750114G>T | CA4630706 | GATA4 | c.787G>T (p.Ala263Ser) c.790G>T (p.Ala264Ser) c.169G>T (p.Ala57Ser) c.784G>T (p.Ala262Ser) c.165+1029G>T (n.165+1029G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750115C>A | CA370312909 | GATA4 | c.788C>A (p.Ala263Asp) c.791C>A (p.Ala264Asp) c.170C>A (p.Ala57Asp) c.785C>A (p.Ala262Asp) c.165+1030C>A (n.165+1030C>A) | |
8 | g.11750115C= | CA1764081078 | GATA4 | c.788C= (p.Ala263=) c.791C= (p.Ala264=) c.170C= (p.Ala57=) c.785C= (p.Ala262=) c.165+1030C= (n.165+1030C=) | |
8 | g.11750115C>G | CA4630707 | GATA4 | c.788C>G (p.Ala263Gly) c.791C>G (p.Ala264Gly) c.170C>G (p.Ala57Gly) c.785C>G (p.Ala262Gly) c.165+1030C>G (n.165+1030C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11750115C>T | CA370312910 | GATA4 | c.788C>T (p.Ala263Val) c.791C>T (p.Ala264Val) c.170C>T (p.Ala57Val) c.785C>T (p.Ala262Val) c.165+1030C>T (n.165+1030C>T) | gnomAD v4 |
8 | g.11750116C>A | CA459311095 | GATA4 | c.789C>A (p.Ala263=) c.792C>A (p.Ala264=) c.171C>A (p.Ala57=) c.786C>A (p.Ala262=) c.165+1031C>A (n.165+1031C>A) | |
8 | g.11750116C>G | CA459311096 | GATA4 | c.789C>G (p.Ala263=) c.792C>G (p.Ala264=) c.171C>G (p.Ala57=) c.786C>G (p.Ala262=) c.165+1031C>G (n.165+1031C>G) | |
8 | g.11750116C>T | CA459311098 | GATA4 | c.789C>T (p.Ala263=) c.792C>T (p.Ala264=) c.171C>T (p.Ala57=) c.786C>T (p.Ala262=) c.165+1031C>T (n.165+1031C>T) | |
8 | g.11750117T>A | CA370312911 | GATA4 | c.790T>A (p.Ser264Thr) c.793T>A (p.Ser265Thr) c.172T>A (p.Ser58Thr) c.787T>A (p.Ser263Thr) c.165+1032T>A (n.165+1032T>A) | |
8 | g.11750117T>C | CA370312912 | GATA4 | c.790T>C (p.Ser264Pro) c.793T>C (p.Ser265Pro) c.172T>C (p.Ser58Pro) c.787T>C (p.Ser263Pro) c.165+1032T>C (n.165+1032T>C) | |
8 | g.11750117T>G | CA370312913 | GATA4 | c.790T>G (p.Ser264Ala) c.793T>G (p.Ser265Ala) c.172T>G (p.Ser58Ala) c.787T>G (p.Ser263Ala) c.165+1032T>G (n.165+1032T>G) | |
8 | g.11750118C>A | CA370312914 | GATA4 | c.791C>A (p.Ser264Tyr) c.794C>A (p.Ser265Tyr) c.173C>A (p.Ser58Tyr) c.788C>A (p.Ser263Tyr) c.165+1033C>A (n.165+1033C>A) | |
8 | g.11750118C= | CA1764081080 | GATA4 | c.791C= (p.Ser264=) c.794C= (p.Ser265=) c.173C= (p.Ser58=) c.788C= (p.Ser263=) c.165+1033C= (n.165+1033C=) | |
8 | g.11750118C>G | CA370312915 | GATA4 | c.791C>G (p.Ser264Cys) c.794C>G (p.Ser265Cys) c.173C>G (p.Ser58Cys) c.788C>G (p.Ser263Cys) c.165+1033C>G (n.165+1033C>G) | ClinVar dbSNP gnomAD v4 |
8 | g.11750118C>T | CA370312916 | GATA4 | c.791C>T (p.Ser264Phe) c.794C>T (p.Ser265Phe) c.173C>T (p.Ser58Phe) c.788C>T (p.Ser263Phe) c.165+1033C>T (n.165+1033C>T) | |
8 | g.11750119C>A | CA459311105 | GATA4 | c.792C>A (p.Ser264=) c.795C>A (p.Ser265=) c.174C>A (p.Ser58=) c.789C>A (p.Ser263=) c.165+1034C>A (n.165+1034C>A) | |
8 | g.11750119C>G | CA459311109 | GATA4 | c.792C>G (p.Ser264=) c.795C>G (p.Ser265=) c.174C>G (p.Ser58=) c.789C>G (p.Ser263=) c.165+1034C>G (n.165+1034C>G) | |
8 | g.11750119C>T | CA459311107 | GATA4 | c.792C>T (p.Ser264=) c.795C>T (p.Ser265=) c.174C>T (p.Ser58=) c.789C>T (p.Ser263=) c.165+1034C>T (n.165+1034C>T) | gnomAD v4 |
8 | g.11750120C>A | CA370312918 | GATA4 | c.793C>A (p.Arg265Ser) c.796C>A (p.Arg266Ser) c.175C>A (p.Arg59Ser) c.790C>A (p.Arg264Ser) c.165+1035C>A (n.165+1035C>A) | |
8 | g.11750120C= | CA1764081089 | GATA4 | c.793C= (p.Arg265=) c.796C= (p.Arg266=) c.175C= (p.Arg59=) c.790C= (p.Arg264=) c.165+1035C= (n.165+1035C=) | |
8 | g.11750120C>G | CA370312917 | GATA4 | c.793C>G (p.Arg265Gly) c.796C>G (p.Arg266Gly) c.175C>G (p.Arg59Gly) c.790C>G (p.Arg264Gly) c.165+1035C>G (n.165+1035C>G) | gnomAD v4 |
8 | g.11750120C>T | CA4630708 | GATA4 | c.793C>T (p.Arg265Cys) c.796C>T (p.Arg266Cys) c.175C>T (p.Arg59Cys) c.790C>T (p.Arg264Cys) c.165+1035C>T (n.165+1035C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750121G>A | CA4630709 | GATA4 | c.794G>A (p.Arg265His) c.797G>A (p.Arg266His) c.176G>A (p.Arg59His) c.791G>A (p.Arg264His) c.165+1036G>A (n.165+1036G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
8 | g.11750121G>C | CA370312919 | GATA4 | c.794G>C (p.Arg265Pro) c.797G>C (p.Arg266Pro) c.176G>C (p.Arg59Pro) c.791G>C (p.Arg264Pro) c.165+1036G>C (n.165+1036G>C) | |
8 | g.11750121G= | CA1764081092 | GATA4 | c.794G= (p.Arg265=) c.797G= (p.Arg266=) c.176G= (p.Arg59=) c.791G= (p.Arg264=) c.165+1036G= (n.165+1036G=) | |
8 | g.11750121G>T | CA370312920 | GATA4 | c.794G>T (p.Arg265Leu) c.797G>T (p.Arg266Leu) c.176G>T (p.Arg59Leu) c.791G>T (p.Arg264Leu) c.165+1036G>T (n.165+1036G>T) | |
8 | g.11750122C>A | CA459311115 | GATA4 | c.795C>A (p.Arg265=) c.798C>A (p.Arg266=) c.177C>A (p.Arg59=) c.792C>A (p.Arg264=) c.165+1037C>A (n.165+1037C>A) | |
8 | g.11750122C>G | CA459311116 | GATA4 | c.795C>G (p.Arg265=) c.798C>G (p.Arg266=) c.177C>G (p.Arg59=) c.792C>G (p.Arg264=) c.165+1037C>G (n.165+1037C>G) | gnomAD v4 |
8 | g.11750122C>T | CA459311118 | GATA4 | c.795C>T (p.Arg265=) c.798C>T (p.Arg266=) c.177C>T (p.Arg59=) c.792C>T (p.Arg264=) c.165+1037C>T (n.165+1037C>T) | |
8 | g.11750123C>A | CA459311120 | GATA4 | c.796C>A (p.Arg266=) c.799C>A (p.Arg267=) c.178C>A (p.Arg60=) c.793C>A (p.Arg265=) c.165+1038C>A (n.165+1038C>A) | |
8 | g.11750123C>G | CA370312921 | GATA4 | c.796C>G (p.Arg266Gly) c.799C>G (p.Arg267Gly) c.178C>G (p.Arg60Gly) c.793C>G (p.Arg265Gly) c.165+1038C>G (n.165+1038C>G) | |
8 | g.11750123C>T | CA370312922 | GATA4 | c.796C>T (p.Arg266Ter) c.799C>T (p.Arg267Ter) c.178C>T (p.Arg60Ter) c.793C>T (p.Arg265Ter) c.165+1038C>T (n.165+1038C>T) | ClinVar COSMIC |
8 | g.11750124G>A | CA370312923 | GATA4 | c.797G>A (p.Arg266Gln) c.800G>A (p.Arg267Gln) c.179G>A (p.Arg60Gln) c.794G>A (p.Arg265Gln) c.165+1039G>A (n.165+1039G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.11750124G>C | CA370312924 | GATA4 | c.797G>C (p.Arg266Pro) c.800G>C (p.Arg267Pro) c.179G>C (p.Arg60Pro) c.794G>C (p.Arg265Pro) c.165+1039G>C (n.165+1039G>C) | |
8 | g.11750124G= | CA1764081095 | GATA4 | c.797G= (p.Arg266=) c.800G= (p.Arg267=) c.179G= (p.Arg60=) c.794G= (p.Arg265=) c.165+1039G= (n.165+1039G=) | |
8 | g.11750124G>T | CA370312925 | GATA4 | c.797G>T (p.Arg266Leu) c.800G>T (p.Arg267Leu) c.179G>T (p.Arg60Leu) c.794G>T (p.Arg265Leu) c.165+1039G>T (n.165+1039G>T) | |
8 | g.11750125A>C | CA459311127 | GATA4 | c.798A>C (p.Arg266=) c.801A>C (p.Arg267=) c.180A>C (p.Arg60=) c.795A>C (p.Arg265=) c.165+1040A>C (n.165+1040A>C) | |
8 | g.11750125A>G | CA459311129 | GATA4 | c.798A>G (p.Arg266=) c.801A>G (p.Arg267=) c.180A>G (p.Arg60=) c.795A>G (p.Arg265=) c.165+1040A>G (n.165+1040A>G) | |
8 | g.11750125A>T | CA459311130 | GATA4 | c.798A>T (p.Arg266=) c.801A>T (p.Arg267=) c.180A>T (p.Arg60=) c.795A>T (p.Arg265=) c.165+1040A>T (n.165+1040A>T) | gnomAD v4 |
8 | g.11750126G>A | CA4630710 | GATA4 | c.799G>A (p.Val267Met) c.802G>A (p.Val268Met) c.181G>A (p.Val61Met) c.796G>A (p.Val266Met) c.165+1041G>A (n.165+1041G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750126G>C | CA370312926 | GATA4 | c.799G>C (p.Val267Leu) c.802G>C (p.Val268Leu) c.181G>C (p.Val61Leu) c.796G>C (p.Val266Leu) c.165+1041G>C (n.165+1041G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750126G= | CA1764081102 | GATA4 | c.799G= (p.Val267=) c.802G= (p.Val268=) c.181G= (p.Val61=) c.796G= (p.Val266=) c.165+1041G= (n.165+1041G=) | |
8 | g.11750126G>T | CA370312927 | GATA4 | c.799G>T (p.Val267Leu) c.802G>T (p.Val268Leu) c.181G>T (p.Val61Leu) c.796G>T (p.Val266Leu) c.165+1041G>T (n.165+1041G>T) | |
8 | g.11750127T>A | CA370312930 | GATA4 | c.800T>A (p.Val267Glu) c.803T>A (p.Val268Glu) c.182T>A (p.Val61Glu) c.797T>A (p.Val266Glu) c.165+1042T>A (n.165+1042T>A) | |
8 | g.11750127T>C | CA370312929 | GATA4 | c.800T>C (p.Val267Ala) c.803T>C (p.Val268Ala) c.182T>C (p.Val61Ala) c.797T>C (p.Val266Ala) c.165+1042T>C (n.165+1042T>C) | gnomAD v4 |
8 | g.11750127T>G | CA370312928 | GATA4 | c.800T>G (p.Val267Gly) c.803T>G (p.Val268Gly) c.182T>G (p.Val61Gly) c.797T>G (p.Val266Gly) c.165+1042T>G (n.165+1042T>G) | gnomAD v4 |
8 | g.11750128G>A | CA4630711 | GATA4 | c.801G>A (p.Val267=) c.804G>A (p.Val268=) c.183G>A (p.Val61=) c.798G>A (p.Val266=) c.165+1043G>A (n.165+1043G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750128G>C | CA459311135 | GATA4 | c.801G>C (p.Val267=) c.804G>C (p.Val268=) c.183G>C (p.Val61=) c.798G>C (p.Val266=) c.165+1043G>C (n.165+1043G>C) | |
8 | g.11750128G= | CA1764081110 | GATA4 | c.801G= (p.Val267=) c.804G= (p.Val268=) c.183G= (p.Val61=) c.798G= (p.Val266=) c.165+1043G= (n.165+1043G=) | |
8 | g.11750128G>T | CA459311136 | GATA4 | c.801G>T (p.Val267=) c.804G>T (p.Val268=) c.183G>T (p.Val61=) c.798G>T (p.Val266=) c.165+1043G>T (n.165+1043G>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11750130del | CA2838976548 | GATA4 | c.803del (p.Gly268AlafsTer?) c.806del (p.Gly269AlafsTer?) c.185del (p.Gly62AlafsTer?) c.800del (p.Gly267AlafsTer?) c.165+1045del (n.165+1045del) | |
8 | g.11750129G>A | CA370312931 | GATA4 | c.802G>A (p.Gly268Ser) c.805G>A (p.Gly269Ser) c.184G>A (p.Gly62Ser) c.799G>A (p.Gly267Ser) c.165+1044G>A (n.165+1044G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.11750129G>C | CA370312932 | GATA4 | c.802G>C (p.Gly268Arg) c.805G>C (p.Gly269Arg) c.184G>C (p.Gly62Arg) c.799G>C (p.Gly267Arg) c.165+1044G>C (n.165+1044G>C) | |
8 | g.11750129G= | CA1764081114 | GATA4 | c.802G= (p.Gly268=) c.805G= (p.Gly269=) c.184G= (p.Gly62=) c.799G= (p.Gly267=) c.165+1044G= (n.165+1044G=) | |
8 | g.11750129G>T | CA370312933 | GATA4 | c.802G>T (p.Gly268Cys) c.805G>T (p.Gly269Cys) c.184G>T (p.Gly62Cys) c.799G>T (p.Gly267Cys) c.165+1044G>T (n.165+1044G>T) | |
8 | g.11750130G>A | CA370312934 | GATA4 | c.803G>A (p.Gly268Asp) c.806G>A (p.Gly269Asp) c.185G>A (p.Gly62Asp) c.800G>A (p.Gly267Asp) c.165+1045G>A (n.165+1045G>A) | dbSNP |
8 | g.11750130G>C | CA370312935 | GATA4 | c.803G>C (p.Gly268Ala) c.806G>C (p.Gly269Ala) c.185G>C (p.Gly62Ala) c.800G>C (p.Gly267Ala) c.165+1045G>C (n.165+1045G>C) | |
8 | g.11750130G= | CA1764081119 | GATA4 | c.803G= (p.Gly268=) c.806G= (p.Gly269=) c.185G= (p.Gly62=) c.800G= (p.Gly267=) c.165+1045G= (n.165+1045G=) | |
8 | g.11750130G>T | CA370312936 | GATA4 | c.803G>T (p.Gly268Val) c.806G>T (p.Gly269Val) c.185G>T (p.Gly62Val) c.800G>T (p.Gly267Val) c.165+1045G>T (n.165+1045G>T) | |
8 | g.11750131C>A | CA459311139 | GATA4 | c.804C>A (p.Gly268=) c.807C>A (p.Gly269=) c.186C>A (p.Gly62=) c.801C>A (p.Gly267=) c.165+1046C>A (n.165+1046C>A) | |
8 | g.11750131C= | CA1764081121 | GATA4 | c.804C= (p.Gly268=) c.807C= (p.Gly269=) c.186C= (p.Gly62=) c.801C= (p.Gly267=) c.165+1046C= (n.165+1046C=) | |
8 | g.11750131C>G | CA459311140 | GATA4 | c.804C>G (p.Gly268=) c.807C>G (p.Gly269=) c.186C>G (p.Gly62=) c.801C>G (p.Gly267=) c.165+1046C>G (n.165+1046C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.11750131C>T | CA459311141 | GATA4 | c.804C>T (p.Gly268=) c.807C>T (p.Gly269=) c.186C>T (p.Gly62=) c.801C>T (p.Gly267=) c.165+1046C>T (n.165+1046C>T) | gnomAD v4 |
8 | g.11750132C>A | CA370312937 | GATA4 | c.805C>A (p.Leu269Ile) c.808C>A (p.Leu270Ile) c.187C>A (p.Leu63Ile) c.802C>A (p.Leu268Ile) c.165+1047C>A (n.165+1047C>A) | |
8 | g.11750132C>G | CA370312939 | GATA4 | c.805C>G (p.Leu269Val) c.808C>G (p.Leu270Val) c.187C>G (p.Leu63Val) c.802C>G (p.Leu268Val) c.165+1047C>G (n.165+1047C>G) | |
8 | g.11750132C>T | CA370312938 | GATA4 | c.805C>T (p.Leu269Phe) c.808C>T (p.Leu270Phe) c.187C>T (p.Leu63Phe) c.802C>T (p.Leu268Phe) c.165+1047C>T (n.165+1047C>T) | gnomAD v4 |
8 | g.11750133T>A | CA370312940 | GATA4 | c.806T>A (p.Leu269His) c.809T>A (p.Leu270His) c.188T>A (p.Leu63His) c.803T>A (p.Leu268His) c.165+1048T>A (n.165+1048T>A) | |
8 | g.11750133T>C | CA370312941 | GATA4 | c.806T>C (p.Leu269Pro) c.809T>C (p.Leu270Pro) c.188T>C (p.Leu63Pro) c.803T>C (p.Leu268Pro) c.165+1048T>C (n.165+1048T>C) | |
8 | g.11750133T>G | CA370312942 | GATA4 | c.806T>G (p.Leu269Arg) c.809T>G (p.Leu270Arg) c.188T>G (p.Leu63Arg) c.803T>G (p.Leu268Arg) c.165+1048T>G (n.165+1048T>G) | |
8 | g.11750134C>A | CA459311147 | GATA4 | c.807C>A (p.Leu269=) c.810C>A (p.Leu270=) c.189C>A (p.Leu63=) c.804C>A (p.Leu268=) c.165+1049C>A (n.165+1049C>A) | |
8 | g.11750134C= | CA1764081123 | GATA4 | c.807C= (p.Leu269=) c.810C= (p.Leu270=) c.189C= (p.Leu63=) c.804C= (p.Leu268=) c.165+1049C= (n.165+1049C=) | |
8 | g.11750134C>G | CA4630712 | GATA4 | c.807C>G (p.Leu269=) c.810C>G (p.Leu270=) c.189C>G (p.Leu63=) c.804C>G (p.Leu268=) c.165+1049C>G (n.165+1049C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.11750134C>T | CA459311150 | GATA4 | c.807C>T (p.Leu269=) c.810C>T (p.Leu270=) c.189C>T (p.Leu63=) c.804C>T (p.Leu268=) c.165+1049C>T (n.165+1049C>T) | |
8 | g.11750135T>A | CA370312943 | GATA4 | c.808T>A (p.Ser270Thr) c.811T>A (p.Ser271Thr) c.190T>A (p.Ser64Thr) c.805T>A (p.Ser269Thr) c.165+1050T>A (n.165+1050T>A) | |
8 | g.11750135T>C | CA370312945 | GATA4 | c.808T>C (p.Ser270Pro) c.811T>C (p.Ser271Pro) c.190T>C (p.Ser64Pro) c.805T>C (p.Ser269Pro) c.165+1050T>C (n.165+1050T>C) | |
8 | g.11750135T>G | CA370312944 | GATA4 | c.808T>G (p.Ser270Ala) c.811T>G (p.Ser271Ala) c.190T>G (p.Ser64Ala) c.805T>G (p.Ser269Ala) c.165+1050T>G (n.165+1050T>G) | |
8 | g.11750136C>A | CA370312946 | GATA4 | c.809C>A (p.Ser270Tyr) c.812C>A (p.Ser271Tyr) c.191C>A (p.Ser64Tyr) c.806C>A (p.Ser269Tyr) c.165+1051C>A (n.165+1051C>A) | |
8 | g.11750136C= | CA1764081127 | GATA4 | c.809C= (p.Ser270=) c.812C= (p.Ser271=) c.191C= (p.Ser64=) c.806C= (p.Ser269=) c.165+1051C= (n.165+1051C=) | |
8 | g.11750136C>G | CA370312947 | GATA4 | c.809C>G (p.Ser270Cys) c.812C>G (p.Ser271Cys) c.191C>G (p.Ser64Cys) c.806C>G (p.Ser269Cys) c.165+1051C>G (n.165+1051C>G) | |
8 | g.11750136C>T | CA370312948 | GATA4 | c.809C>T (p.Ser270Phe) c.812C>T (p.Ser271Phe) c.191C>T (p.Ser64Phe) c.806C>T (p.Ser269Phe) c.165+1051C>T (n.165+1051C>T) | dbSNP |
8 | g.11750137C>A | CA459311161 | GATA4 | c.810C>A (p.Ser270=) c.813C>A (p.Ser271=) c.192C>A (p.Ser64=) c.807C>A (p.Ser269=) c.165+1052C>A (n.165+1052C>A) | gnomAD v4 |
8 | g.11750137C>G | CA459311162 | GATA4 | c.810C>G (p.Ser270=) c.813C>G (p.Ser271=) c.192C>G (p.Ser64=) c.807C>G (p.Ser269=) c.165+1052C>G (n.165+1052C>G) | COSMIC |
8 | g.11750137C>T | CA459311164 | GATA4 | c.810C>T (p.Ser270=) c.813C>T (p.Ser271=) c.192C>T (p.Ser64=) c.807C>T (p.Ser269=) c.165+1052C>T (n.165+1052C>T) | COSMIC |
8 | g.11750138T>A | CA370312949 | GATA4 | c.811T>A (p.Cys271Ser) c.814T>A (p.Cys272Ser) c.193T>A (p.Cys65Ser) c.808T>A (p.Cys270Ser) c.165+1053T>A (n.165+1053T>A) | |
8 | g.11750138T>C | CA370312950 | GATA4 | c.811T>C (p.Cys271Arg) c.814T>C (p.Cys272Arg) c.193T>C (p.Cys65Arg) c.808T>C (p.Cys270Arg) c.165+1053T>C (n.165+1053T>C) | |
8 | g.11750138T>G | CA370312951 | GATA4 | c.811T>G (p.Cys271Gly) c.814T>G (p.Cys272Gly) c.193T>G (p.Cys65Gly) c.808T>G (p.Cys270Gly) c.165+1053T>G (n.165+1053T>G) | |
8 | g.11750139G>A | CA370312952 | GATA4 | c.812G>A (p.Cys271Tyr) c.815G>A (p.Cys272Tyr) c.194G>A (p.Cys65Tyr) c.809G>A (p.Cys270Tyr) c.165+1054G>A (n.165+1054G>A) | |
8 | g.11750139G>C | CA370312953 | GATA4 | c.812G>C (p.Cys271Ser) c.815G>C (p.Cys272Ser) c.194G>C (p.Cys65Ser) c.809G>C (p.Cys270Ser) c.165+1054G>C (n.165+1054G>C) | |
8 | g.11750139G>T | CA370312954 | GATA4 | c.812G>T (p.Cys271Phe) c.815G>T (p.Cys272Phe) c.194G>T (p.Cys65Phe) c.809G>T (p.Cys270Phe) c.165+1054G>T (n.165+1054G>T) | |
8 | g.11750140T>A | CA370312955 | GATA4 | c.813T>A (p.Cys271Ter) c.816T>A (p.Cys272Ter) c.195T>A (p.Cys65Ter) c.810T>A (p.Cys270Ter) c.165+1055T>A (n.165+1055T>A) | |
8 | g.11750140T>C | CA459311169 | GATA4 | c.813T>C (p.Cys271=) c.816T>C (p.Cys272=) c.195T>C (p.Cys65=) c.810T>C (p.Cys270=) c.165+1055T>C (n.165+1055T>C) | |
8 | g.11750140T>G | CA370312956 | GATA4 | c.813T>G (p.Cys271Trp) c.816T>G (p.Cys272Trp) c.195T>G (p.Cys65Trp) c.810T>G (p.Cys270Trp) c.165+1055T>G (n.165+1055T>G) | |
8 | g.11750141G>A | CA370312958 | GATA4 | c.814G>A (p.Ala272Thr) c.817G>A (p.Ala273Thr) c.196G>A (p.Ala66Thr) c.811G>A (p.Ala271Thr) c.165+1056G>A (n.165+1056G>A) | |
8 | g.11750141G>C | CA370312959 | GATA4 | c.814G>C (p.Ala272Pro) c.817G>C (p.Ala273Pro) c.196G>C (p.Ala66Pro) c.811G>C (p.Ala271Pro) c.165+1056G>C (n.165+1056G>C) | |
8 | g.11750141G>T | CA370312957 | GATA4 | c.814G>T (p.Ala272Ser) c.817G>T (p.Ala273Ser) c.196G>T (p.Ala66Ser) c.811G>T (p.Ala271Ser) c.165+1056G>T (n.165+1056G>T) | |
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.11750143dup | CA2842499679 | GATA4 | c.816dup (p.Asn273GlnfsTer?) c.819dup (p.Asn274GlnfsTer?) c.198dup (p.Asn67GlnfsTer?) c.813dup (p.Asn272GlnfsTer?) c.165+1058dup (n.165+1058dup) | |
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.11750148dup | CA2838412634 | GATA4 | c.821dup (p.Cys274TrpfsTer?) c.824dup (p.Cys275TrpfsTer?) c.203dup (p.Cys68TrpfsTer?) c.818dup (p.Cys273TrpfsTer?) c.165+1063dup (n.165+1063dup) | |
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.11750164dup | CA2842499680 | GATA4 | c.837dup (p.Thr280HisfsTer?) c.840dup (p.Thr281HisfsTer?) c.219dup (p.Thr74HisfsTer?) c.834dup (p.Thr279HisfsTer?) c.165+1079dup (n.165+1079dup) | |
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 |