Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.53951857G>A | CA7191779 | BMP4 | c.366C>T (p.His122=) c.291C>T (p.His97=) c.177C>T (p.His59=) c.24C>T (p.His8=) c.507C>T (p.His169=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53951857G>C | CA389785006 | BMP4 | c.366C>G (p.His122Gln) c.291C>G (p.His97Gln) c.177C>G (p.His59Gln) c.24C>G (p.His8Gln) c.507C>G (p.His169Gln) | gnomAD v4 |
14 | g.53951857G= | CA2137818967 | BMP4 | c.366C= (p.His122=) c.291C= (p.His97=) c.177C= (p.His59=) c.24C= (p.His8=) c.507C= (p.His169=) | |
14 | g.53951857G>T | CA389785007 | BMP4 | c.366C>A (p.His122Gln) c.291C>A (p.His97Gln) c.177C>A (p.His59Gln) c.24C>A (p.His8Gln) c.507C>A (p.His169Gln) | gnomAD v4 |
14 | g.53951858T>A | CA389785008 | BMP4 | c.365A>T (p.His122Leu) c.290A>T (p.His97Leu) c.176A>T (p.His59Leu) c.23A>T (p.His8Leu) c.506A>T (p.His169Leu) | |
14 | g.53951858T>C | CA389785009 | BMP4 | c.365A>G (p.His122Arg) c.290A>G (p.His97Arg) c.176A>G (p.His59Arg) c.23A>G (p.His8Arg) c.506A>G (p.His169Arg) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951858T>G | CA389785010 | BMP4 | c.365A>C (p.His122Pro) c.290A>C (p.His97Pro) c.176A>C (p.His59Pro) c.23A>C (p.His8Pro) c.506A>C (p.His169Pro) | |
14 | g.53951858T= | CA2137818970 | BMP4 | c.365A= (p.His122=) c.290A= (p.His97=) c.176A= (p.His59=) c.23A= (p.His8=) c.506A= (p.His169=) | |
14 | g.53951859G>A | CA389785011 | BMP4 | c.364C>T (p.His122Tyr) c.289C>T (p.His97Tyr) c.175C>T (p.His59Tyr) c.22C>T (p.His8Tyr) c.505C>T (p.His169Tyr) | |
14 | g.53951859G>C | CA389785012 | BMP4 | c.364C>G (p.His122Asp) c.289C>G (p.His97Asp) c.175C>G (p.His59Asp) c.22C>G (p.His8Asp) c.505C>G (p.His169Asp) | |
14 | g.53951859G= | CA2137818972 | BMP4 | c.364C= (p.His122=) c.289C= (p.His97=) c.175C= (p.His59=) c.22C= (p.His8=) c.505C= (p.His169=) | |
14 | g.53951859G>T | CA261472775 | BMP4 | c.364C>A (p.His122Asn) c.289C>A (p.His97Asn) c.175C>A (p.His59Asn) c.22C>A (p.His8Asn) c.505C>A (p.His169Asn) | dbSNP |
14 | g.53951860G>A | CA7191780 | BMP4 | c.363C>T (p.His121=) c.288C>T (p.His96=) c.174C>T (p.His58=) c.21C>T (p.His7=) c.504C>T (p.His168=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951860G>C | CA389785013 | BMP4 | c.363C>G (p.His121Gln) c.288C>G (p.His96Gln) c.174C>G (p.His58Gln) c.21C>G (p.His7Gln) c.504C>G (p.His168Gln) | |
14 | g.53951860G= | CA2137818975 | BMP4 | c.363C= (p.His121=) c.288C= (p.His96=) c.174C= (p.His58=) c.21C= (p.His7=) c.504C= (p.His168=) | |
14 | g.53951860G>T | CA389785014 | BMP4 | c.363C>A (p.His121Gln) c.288C>A (p.His96Gln) c.174C>A (p.His58Gln) c.21C>A (p.His7Gln) c.504C>A (p.His168Gln) | |
14 | g.53951861T>A | CA389785015 | BMP4 | c.362A>T (p.His121Leu) c.287A>T (p.His96Leu) c.173A>T (p.His58Leu) c.20A>T (p.His7Leu) c.503A>T (p.His168Leu) | |
14 | g.53951861T>C | CA259604 | BMP4 | c.362A>G (p.His121Arg) c.287A>G (p.His96Arg) c.173A>G (p.His58Arg) c.20A>G (p.His7Arg) c.503A>G (p.His168Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.53951861T>G | CA389785016 | BMP4 | c.362A>C (p.His121Pro) c.287A>C (p.His96Pro) c.173A>C (p.His58Pro) c.20A>C (p.His7Pro) c.503A>C (p.His168Pro) | |
14 | g.53951861T= | CA2137818981 | BMP4 | c.362A= (p.His121=) c.287A= (p.His96=) c.173A= (p.His58=) c.20A= (p.His7=) c.503A= (p.His168=) | |
14 | g.53951862G>A | CA7191781 | BMP4 | c.361C>T (p.His121Tyr) c.286C>T (p.His96Tyr) c.172C>T (p.His58Tyr) c.19C>T (p.His7Tyr) c.502C>T (p.His168Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53951862G>C | CA389785017 | BMP4 | c.361C>G (p.His121Asp) c.286C>G (p.His96Asp) c.172C>G (p.His58Asp) c.19C>G (p.His7Asp) c.502C>G (p.His168Asp) | |
14 | g.53951862G= | CA2137818991 | BMP4 | c.361C= (p.His121=) c.286C= (p.His96=) c.172C= (p.His58=) c.19C= (p.His7=) c.502C= (p.His168=) | |
14 | g.53951862G>T | CA389785018 | BMP4 | c.361C>A (p.His121Asn) c.286C>A (p.His96Asn) c.172C>A (p.His58Asn) c.19C>A (p.His7Asn) c.502C>A (p.His168Asn) | |
14 | g.53951863G>A | CA486658569 | BMP4 | c.360C>T (p.Phe120=) c.285C>T (p.Phe95=) c.171C>T (p.Phe57=) c.18C>T (p.Phe6=) c.501C>T (p.Phe167=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53951863G>C | CA389785019 | BMP4 | c.360C>G (p.Phe120Leu) c.285C>G (p.Phe95Leu) c.171C>G (p.Phe57Leu) c.18C>G (p.Phe6Leu) c.501C>G (p.Phe167Leu) | |
14 | g.53951863G= | CA2137818996 | BMP4 | c.360C= (p.Phe120=) c.285C= (p.Phe95=) c.171C= (p.Phe57=) c.18C= (p.Phe6=) c.501C= (p.Phe167=) | |
14 | g.53951863G>T | CA389785020 | BMP4 | c.360C>A (p.Phe120Leu) c.285C>A (p.Phe95Leu) c.171C>A (p.Phe57Leu) c.18C>A (p.Phe6Leu) c.501C>A (p.Phe167Leu) | |
14 | g.53951864A>C | CA389785023 | BMP4 | c.359T>G (p.Phe120Cys) c.284T>G (p.Phe95Cys) c.170T>G (p.Phe57Cys) c.17T>G (p.Phe6Cys) c.500T>G (p.Phe167Cys) | |
14 | g.53951864A>G | CA389785022 | BMP4 | c.359T>C (p.Phe120Ser) c.284T>C (p.Phe95Ser) c.170T>C (p.Phe57Ser) c.17T>C (p.Phe6Ser) c.500T>C (p.Phe167Ser) | |
14 | g.53951864A>T | CA389785021 | BMP4 | c.359T>A (p.Phe120Tyr) c.284T>A (p.Phe95Tyr) c.170T>A (p.Phe57Tyr) c.17T>A (p.Phe6Tyr) c.500T>A (p.Phe167Tyr) | |
14 | g.53951865A>C | CA389785024 | BMP4 | c.358T>G (p.Phe120Val) c.283T>G (p.Phe95Val) c.169T>G (p.Phe57Val) c.16T>G (p.Phe6Val) c.499T>G (p.Phe167Val) | |
14 | g.53951865A>G | CA389785025 | BMP4 | c.358T>C (p.Phe120Leu) c.283T>C (p.Phe95Leu) c.169T>C (p.Phe57Leu) c.16T>C (p.Phe6Leu) c.499T>C (p.Phe167Leu) | |
14 | g.53951865A>T | CA389785026 | BMP4 | c.358T>A (p.Phe120Ile) c.283T>A (p.Phe95Ile) c.169T>A (p.Phe57Ile) c.16T>A (p.Phe6Ile) c.499T>A (p.Phe167Ile) | |
14 | g.53951866G>A | CA7191782 | BMP4 | c.357C>T (p.Ser119=) c.282C>T (p.Ser94=) c.168C>T (p.Ser56=) c.15C>T (p.Ser5=) c.498C>T (p.Ser166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53951866G>C | CA389785027 | BMP4 | c.357C>G (p.Ser119Arg) c.282C>G (p.Ser94Arg) c.168C>G (p.Ser56Arg) c.15C>G (p.Ser5Arg) c.498C>G (p.Ser166Arg) | |
14 | g.53951866G= | CA2137819000 | BMP4 | c.357C= (p.Ser119=) c.282C= (p.Ser94=) c.168C= (p.Ser56=) c.15C= (p.Ser5=) c.498C= (p.Ser166=) | |
14 | g.53951866G>T | CA389785028 | BMP4 | c.357C>A (p.Ser119Arg) c.282C>A (p.Ser94Arg) c.168C>A (p.Ser56Arg) c.15C>A (p.Ser5Arg) c.498C>A (p.Ser166Arg) | |
14 | g.53951867C>A | CA389785029 | BMP4 | c.356G>T (p.Ser119Ile) c.281G>T (p.Ser94Ile) c.167G>T (p.Ser56Ile) c.14G>T (p.Ser5Ile) c.497G>T (p.Ser166Ile) | |
14 | g.53951867C>G | CA389785030 | BMP4 | c.356G>C (p.Ser119Thr) c.281G>C (p.Ser94Thr) c.167G>C (p.Ser56Thr) c.14G>C (p.Ser5Thr) c.497G>C (p.Ser166Thr) | |
14 | g.53951867C>T | CA389785031 | BMP4 | c.356G>A (p.Ser119Asn) c.281G>A (p.Ser94Asn) c.167G>A (p.Ser56Asn) c.14G>A (p.Ser5Asn) c.497G>A (p.Ser166Asn) | |
14 | g.53951868T>A | CA389785032 | BMP4 | c.355A>T (p.Ser119Cys) c.280A>T (p.Ser94Cys) c.166A>T (p.Ser56Cys) c.13A>T (p.Ser5Cys) c.496A>T (p.Ser166Cys) | |
14 | g.53951868T>C | CA389785033 | BMP4 | c.355A>G (p.Ser119Gly) c.280A>G (p.Ser94Gly) c.166A>G (p.Ser56Gly) c.13A>G (p.Ser5Gly) c.496A>G (p.Ser166Gly) | |
14 | g.53951868T>G | CA389785034 | BMP4 | c.355A>C (p.Ser119Arg) c.280A>C (p.Ser94Arg) c.166A>C (p.Ser56Arg) c.13A>C (p.Ser5Arg) c.496A>C (p.Ser166Arg) | |
14 | g.53951869C>A | CA389785035 | BMP4 | c.354G>T (p.Arg118Ser) c.279G>T (p.Arg93Ser) c.165G>T (p.Arg55Ser) c.12G>T (p.Arg4Ser) c.495G>T (p.Arg165Ser) | |
14 | g.53951869C>G | CA389785036 | BMP4 | c.354G>C (p.Arg118Ser) c.279G>C (p.Arg93Ser) c.165G>C (p.Arg55Ser) c.12G>C (p.Arg4Ser) c.495G>C (p.Arg165Ser) | |
14 | g.53951869C>T | CA486658588 | BMP4 | c.354G>A (p.Arg118=) c.279G>A (p.Arg93=) c.165G>A (p.Arg55=) c.12G>A (p.Arg4=) c.495G>A (p.Arg165=) | gnomAD v4 |
14 | g.53951870C>A | CA389785037 | BMP4 | c.353G>T (p.Arg118Met) c.278G>T (p.Arg93Met) c.164G>T (p.Arg55Met) c.11G>T (p.Arg4Met) c.494G>T (p.Arg165Met) | |
14 | g.53951870C>G | CA389785038 | BMP4 | c.353G>C (p.Arg118Thr) c.278G>C (p.Arg93Thr) c.164G>C (p.Arg55Thr) c.11G>C (p.Arg4Thr) c.494G>C (p.Arg165Thr) | |
14 | g.53951870C>T | CA389785039 | BMP4 | c.353G>A (p.Arg118Lys) c.278G>A (p.Arg93Lys) c.164G>A (p.Arg55Lys) c.11G>A (p.Arg4Lys) c.494G>A (p.Arg165Lys) | gnomAD v4 |
14 | g.53951871T>A | CA389785040 | BMP4 | c.352A>T (p.Arg118Trp) c.277A>T (p.Arg93Trp) c.163A>T (p.Arg55Trp) c.10A>T (p.Arg4Trp) c.493A>T (p.Arg165Trp) | |
14 | g.53951871T>C | CA389785041 | BMP4 | c.352A>G (p.Arg118Gly) c.277A>G (p.Arg93Gly) c.163A>G (p.Arg55Gly) c.10A>G (p.Arg4Gly) c.493A>G (p.Arg165Gly) | |
14 | g.53951871T>G | CA486658595 | BMP4 | c.352A>C (p.Arg118=) c.277A>C (p.Arg93=) c.163A>C (p.Arg55=) c.10A>C (p.Arg4=) c.493A>C (p.Arg165=) | |
14 | g.53951872C>A | CA486658597 | BMP4 | c.351G>T (p.Val117=) c.276G>T (p.Val92=) c.162G>T (p.Val54=) c.9G>T (p.Val3=) c.492G>T (p.Val164=) | |
14 | g.53951872C= | CA2137819005 | BMP4 | c.351G= (p.Val117=) c.276G= (p.Val92=) c.162G= (p.Val54=) c.9G= (p.Val3=) c.492G= (p.Val164=) | |
14 | g.53951872C>G | CA486658600 | BMP4 | c.351G>C (p.Val117=) c.276G>C (p.Val92=) c.162G>C (p.Val54=) c.9G>C (p.Val3=) c.492G>C (p.Val164=) | |
14 | g.53951872C>T | CA261472776 | BMP4 | c.351G>A (p.Val117=) c.276G>A (p.Val92=) c.162G>A (p.Val54=) c.9G>A (p.Val3=) c.492G>A (p.Val164=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951873A>C | CA389785044 | BMP4 | c.350T>G (p.Val117Gly) c.275T>G (p.Val92Gly) c.161T>G (p.Val54Gly) c.8T>G (p.Val3Gly) c.491T>G (p.Val164Gly) | |
14 | g.53951873A>G | CA389785043 | BMP4 | c.350T>C (p.Val117Ala) c.275T>C (p.Val92Ala) c.161T>C (p.Val54Ala) c.8T>C (p.Val3Ala) c.491T>C (p.Val164Ala) | |
14 | g.53951873A>T | CA389785042 | BMP4 | c.350T>A (p.Val117Glu) c.275T>A (p.Val92Glu) c.161T>A (p.Val54Glu) c.8T>A (p.Val3Glu) c.491T>A (p.Val164Glu) | |
14 | g.53951874C>A | CA7191783 | BMP4 | c.349G>T (p.Val117Leu) c.274G>T (p.Val92Leu) c.160G>T (p.Val54Leu) c.7G>T (p.Val3Leu) c.490G>T (p.Val164Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951874C= | CA2137819010 | BMP4 | c.349G= (p.Val117=) c.274G= (p.Val92=) c.160G= (p.Val54=) c.7G= (p.Val3=) c.490G= (p.Val164=) | |
14 | g.53951874C>G | CA389785045 | BMP4 | c.349G>C (p.Val117Leu) c.274G>C (p.Val92Leu) c.160G>C (p.Val54Leu) c.7G>C (p.Val3Leu) c.490G>C (p.Val164Leu) | |
14 | g.53951874C>T | CA261472777 | BMP4 | c.349G>A (p.Val117Met) c.274G>A (p.Val92Met) c.160G>A (p.Val54Met) c.7G>A (p.Val3Met) c.490G>A (p.Val164Met) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951875G>A | CA261472778 | BMP4 | c.348C>T (p.Thr116=) c.273C>T (p.Thr91=) c.159C>T (p.Thr53=) c.6C>T (p.Thr2=) c.489C>T (p.Thr163=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951875G>C | CA486658607 | BMP4 | c.348C>G (p.Thr116=) c.273C>G (p.Thr91=) c.159C>G (p.Thr53=) c.6C>G (p.Thr2=) c.489C>G (p.Thr163=) | ClinVar dbSNP gnomAD v4 |
14 | g.53951875G= | CA2137819014 | BMP4 | c.348C= (p.Thr116=) c.273C= (p.Thr91=) c.159C= (p.Thr53=) c.6C= (p.Thr2=) c.489C= (p.Thr163=) | |
14 | g.53951875G>T | CA486658608 | BMP4 | c.348C>A (p.Thr116=) c.273C>A (p.Thr91=) c.159C>A (p.Thr53=) c.6C>A (p.Thr2=) c.489C>A (p.Thr163=) | |
14 | g.53951876G>A | CA389785046 | BMP4 | c.347C>T (p.Thr116Ile) c.272C>T (p.Thr91Ile) c.158C>T (p.Thr53Ile) c.5C>T (p.Thr2Ile) c.488C>T (p.Thr163Ile) | dbSNP gnomAD v2 |
14 | g.53951876G>C | CA7191784 | BMP4 | c.347C>G (p.Thr116Ser) c.272C>G (p.Thr91Ser) c.158C>G (p.Thr53Ser) c.5C>G (p.Thr2Ser) c.488C>G (p.Thr163Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951876G= | CA2137819017 | BMP4 | c.347C= (p.Thr116=) c.272C= (p.Thr91=) c.158C= (p.Thr53=) c.5C= (p.Thr2=) c.488C= (p.Thr163=) | |
14 | g.53951876G>T | CA389785047 | BMP4 | c.347C>A (p.Thr116Asn) c.272C>A (p.Thr91Asn) c.158C>A (p.Thr53Asn) c.5C>A (p.Thr2Asn) c.488C>A (p.Thr163Asn) | |
14 | g.53951877T>A | CA389785049 | BMP4 | c.346A>T (p.Thr116Ser) c.271A>T (p.Thr91Ser) c.157A>T (p.Thr53Ser) c.4A>T (p.Thr2Ser) c.487A>T (p.Thr163Ser) | |
14 | g.53951877T>C | CA7191785 | BMP4 | c.346A>G (p.Thr116Ala) c.271A>G (p.Thr91Ala) c.157A>G (p.Thr53Ala) c.4A>G (p.Thr2Ala) c.487A>G (p.Thr163Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53951877T>G | CA389785048 | BMP4 | c.346A>C (p.Thr116Pro) c.271A>C (p.Thr91Pro) c.157A>C (p.Thr53Pro) c.4A>C (p.Thr2Pro) c.487A>C (p.Thr163Pro) | |
14 | g.53951877T= | CA2137819020 | BMP4 | c.346A= (p.Thr116=) c.271A= (p.Thr91=) c.157A= (p.Thr53=) c.4A= (p.Thr2=) c.487A= (p.Thr163=) | |
14 | g.53951878G>A | CA7191786 | BMP4 | c.345C>T (p.Asn115=) c.270C>T (p.Asn90=) c.156C>T (p.Asn52=) c.3C>T (p.Asn1=) c.486C>T (p.Asn162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951878G>C | CA389785050 | BMP4 | c.345C>G (p.Asn115Lys) c.270C>G (p.Asn90Lys) c.156C>G (p.Asn52Lys) c.3C>G (p.Asn1Lys) c.486C>G (p.Asn162Lys) | |
14 | g.53951878G= | CA2137819026 | BMP4 | c.345C= (p.Asn115=) c.270C= (p.Asn90=) c.156C= (p.Asn52=) c.3C= (p.Asn1=) c.486C= (p.Asn162=) | |
14 | g.53951878G>T | CA389785051 | BMP4 | c.345C>A (p.Asn115Lys) c.270C>A (p.Asn90Lys) c.156C>A (p.Asn52Lys) c.3C>A (p.Asn1Lys) c.486C>A (p.Asn162Lys) | gnomAD v4 |
14 | g.53951879T>A | CA389785052 | BMP4 | c.344A>T (p.Asn115Ile) c.269A>T (p.Asn90Ile) c.155A>T (p.Asn52Ile) c.2A>T (p.Asn1Ile) c.485A>T (p.Asn162Ile) | COSMIC |
14 | g.53951879T>C | CA389785053 | BMP4 | c.344A>G (p.Asn115Ser) c.269A>G (p.Asn90Ser) c.155A>G (p.Asn52Ser) c.2A>G (p.Asn1Ser) c.485A>G (p.Asn162Ser) | |
14 | g.53951879T>G | CA389785054 | BMP4 | c.344A>C (p.Asn115Thr) c.269A>C (p.Asn90Thr) c.155A>C (p.Asn52Thr) c.2A>C (p.Asn1Thr) c.485A>C (p.Asn162Thr) | |
14 | g.53951880T>A | CA389785055 | BMP4 | c.343A>T (p.Asn115Tyr) c.268A>T (p.Asn90Tyr) c.154A>T (p.Asn52Tyr) c.1A>T (p.Asn1Tyr) c.484A>T (p.Asn162Tyr) | |
14 | g.53951880T>C | CA389785056 | BMP4 | c.343A>G (p.Asn115Asp) c.268A>G (p.Asn90Asp) c.154A>G (p.Asn52Asp) c.1A>G (p.Asn1Asp) c.484A>G (p.Asn162Asp) | |
14 | g.53951880T>G | CA389785057 | BMP4 | c.343A>C (p.Asn115His) c.268A>C (p.Asn90His) c.154A>C (p.Asn52His) c.1A>C (p.Asn1His) c.484A>C (p.Asn162His) | |
14 | g.53951881G>A | CA486658618 | BMP4 | c.342C>T (p.Ala114=) c.267C>T (p.Ala89=) c.153C>T (p.Ala51=) c.483C>T (p.Ala161=) | |
14 | g.53951881G>C | CA486658617 | BMP4 | c.342C>G (p.Ala114=) c.267C>G (p.Ala89=) c.153C>G (p.Ala51=) c.483C>G (p.Ala161=) | |
14 | g.53951881G>T | CA486658616 | BMP4 | c.342C>A (p.Ala114=) c.267C>A (p.Ala89=) c.153C>A (p.Ala51=) c.483C>A (p.Ala161=) | |
14 | g.53951882G>A | CA389785058 | BMP4 | c.341C>T (p.Ala114Val) c.266C>T (p.Ala89Val) c.152C>T (p.Ala51Val) c.482C>T (p.Ala161Val) | gnomAD v4 |
14 | g.53951882G>C | CA389785059 | BMP4 | c.341C>G (p.Ala114Gly) c.266C>G (p.Ala89Gly) c.152C>G (p.Ala51Gly) c.482C>G (p.Ala161Gly) | |
14 | g.53951882G>T | CA389785060 | BMP4 | c.341C>A (p.Ala114Asp) c.266C>A (p.Ala89Asp) c.152C>A (p.Ala51Asp) c.482C>A (p.Ala161Asp) | |
14 | g.53951883C>A | CA7191787 | BMP4 | c.340G>T (p.Ala114Ser) c.265G>T (p.Ala89Ser) c.151G>T (p.Ala51Ser) c.481G>T (p.Ala161Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.53951883C= | CA2137819031 | BMP4 | c.340G= (p.Ala114=) c.265G= (p.Ala89=) c.151G= (p.Ala51=) c.481G= (p.Ala161=) | |
14 | g.53951883C>G | CA389785062 | BMP4 | c.340G>C (p.Ala114Pro) c.265G>C (p.Ala89Pro) c.151G>C (p.Ala51Pro) c.481G>C (p.Ala161Pro) | |
14 | g.53951883C>T | CA389785061 | BMP4 | c.340G>A (p.Ala114Thr) c.265G>A (p.Ala89Thr) c.151G>A (p.Ala51Thr) c.481G>A (p.Ala161Thr) | gnomAD v4 |
14 | g.53951884C>A | CA486658623 | BMP4 | c.339G>T (p.Arg113=) c.264G>T (p.Arg88=) c.150G>T (p.Arg50=) c.480G>T (p.Arg160=) | |
14 | g.53951884C>G | CA486658624 | BMP4 | c.339G>C (p.Arg113=) c.264G>C (p.Arg88=) c.150G>C (p.Arg50=) c.480G>C (p.Arg160=) | |
14 | g.53951884C>T | CA486658626 | BMP4 | c.339G>A (p.Arg113=) c.264G>A (p.Arg88=) c.150G>A (p.Arg50=) c.480G>A (p.Arg160=) | |
14 | g.53951885C>A | CA389785063 | BMP4 | c.338G>T (p.Arg113Leu) c.263G>T (p.Arg88Leu) c.149G>T (p.Arg50Leu) c.479G>T (p.Arg160Leu) | |
14 | g.53951885C= | CA2137819036 | BMP4 | c.338G= (p.Arg113=) c.263G= (p.Arg88=) c.149G= (p.Arg50=) c.479G= (p.Arg160=) | |
14 | g.53951885C>G | CA7191788 | BMP4 | c.338G>C (p.Arg113Pro) c.263G>C (p.Arg88Pro) c.149G>C (p.Arg50Pro) c.479G>C (p.Arg160Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951885C>T | CA7191789 | BMP4 | c.338G>A (p.Arg113Gln) c.263G>A (p.Arg88Gln) c.149G>A (p.Arg50Gln) c.479G>A (p.Arg160Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951886G>A | CA389785064 | BMP4 | c.337C>T (p.Arg113Trp) c.262C>T (p.Arg88Trp) c.148C>T (p.Arg50Trp) c.478C>T (p.Arg160Trp) | |
14 | g.53951886G>C | CA389785065 | BMP4 | c.337C>G (p.Arg113Gly) c.262C>G (p.Arg88Gly) c.148C>G (p.Arg50Gly) c.478C>G (p.Arg160Gly) | ClinVar |
14 | g.53951886G>T | CA486658629 | BMP4 | c.337C>A (p.Arg113=) c.262C>A (p.Arg88=) c.148C>A (p.Arg50=) c.478C>A (p.Arg160=) | |
14 | g.53951887G>A | CA486658630 | BMP4 | c.336C>T (p.Ser112=) c.261C>T (p.Ser87=) c.147C>T (p.Ser49=) c.477C>T (p.Ser159=) | gnomAD v4 |
14 | g.53951887G>C | CA389785066 | BMP4 | c.336C>G (p.Ser112Arg) c.261C>G (p.Ser87Arg) c.147C>G (p.Ser49Arg) c.477C>G (p.Ser159Arg) | |
14 | g.53951887G>T | CA389785067 | BMP4 | c.336C>A (p.Ser112Arg) c.261C>A (p.Ser87Arg) c.147C>A (p.Ser49Arg) c.477C>A (p.Ser159Arg) | |
14 | g.53951888C>A | CA389785068 | BMP4 | c.335G>T (p.Ser112Ile) c.260G>T (p.Ser87Ile) c.146G>T (p.Ser49Ile) c.476G>T (p.Ser159Ile) | gnomAD v4 |
14 | g.53951888C= | CA2137819042 | BMP4 | c.335G= (p.Ser112=) c.260G= (p.Ser87=) c.146G= (p.Ser49=) c.476G= (p.Ser159=) | |
14 | g.53951888C>G | CA389785069 | BMP4 | c.335G>C (p.Ser112Thr) c.260G>C (p.Ser87Thr) c.146G>C (p.Ser49Thr) c.476G>C (p.Ser159Thr) | |
14 | g.53951888C>T | CA389785070 | BMP4 | c.335G>A (p.Ser112Asn) c.260G>A (p.Ser87Asn) c.146G>A (p.Ser49Asn) c.476G>A (p.Ser159Asn) | dbSNP gnomAD v4 |
14 | g.53951889T>A | CA389785071 | BMP4 | c.334A>T (p.Ser112Cys) c.259A>T (p.Ser87Cys) c.145A>T (p.Ser49Cys) c.475A>T (p.Ser159Cys) | |
14 | g.53951889T>C | CA389785072 | BMP4 | c.334A>G (p.Ser112Gly) c.259A>G (p.Ser87Gly) c.145A>G (p.Ser49Gly) c.475A>G (p.Ser159Gly) | |
14 | g.53951889T>G | CA389785073 | BMP4 | c.334A>C (p.Ser112Arg) c.259A>C (p.Ser87Arg) c.145A>C (p.Ser49Arg) c.475A>C (p.Ser159Arg) | |
14 | g.53951890G>A | CA486658640 | BMP4 | c.333C>T (p.Ala111=) c.258C>T (p.Ala86=) c.144C>T (p.Ala48=) c.474C>T (p.Ala158=) | dbSNP gnomAD v4 |
14 | g.53951890G>C | CA486658642 | BMP4 | c.333C>G (p.Ala111=) c.258C>G (p.Ala86=) c.144C>G (p.Ala48=) c.474C>G (p.Ala158=) | |
14 | g.53951890G= | CA2137819044 | BMP4 | c.333C= (p.Ala111=) c.258C= (p.Ala86=) c.144C= (p.Ala48=) c.474C= (p.Ala158=) | |
14 | g.53951890G>T | CA486658643 | BMP4 | c.333C>A (p.Ala111=) c.258C>A (p.Ala86=) c.144C>A (p.Ala48=) c.474C>A (p.Ala158=) | |
14 | g.53951891G>A | CA389785074 | BMP4 | c.332C>T (p.Ala111Val) c.257C>T (p.Ala86Val) c.143C>T (p.Ala48Val) c.473C>T (p.Ala158Val) | gnomAD v4 |
14 | g.53951891G>C | CA389785076 | BMP4 | c.332C>G (p.Ala111Gly) c.257C>G (p.Ala86Gly) c.143C>G (p.Ala48Gly) c.473C>G (p.Ala158Gly) | |
14 | g.53951891G>T | CA389785075 | BMP4 | c.332C>A (p.Ala111Asp) c.257C>A (p.Ala86Asp) c.143C>A (p.Ala48Asp) c.473C>A (p.Ala158Asp) | |
14 | g.53951892C>A | CA389785077 | BMP4 | c.331G>T (p.Ala111Ser) c.256G>T (p.Ala86Ser) c.142G>T (p.Ala48Ser) c.331G>T c.472G>T (p.Ala158Ser) | |
14 | g.53951892C>G | CA389785078 | BMP4 | c.331G>C (p.Ala111Pro) c.256G>C (p.Ala86Pro) c.142G>C (p.Ala48Pro) c.331G>C c.472G>C (p.Ala158Pro) | |
14 | g.53951892C>T | CA389785079 | BMP4 | c.331G>A (p.Ala111Thr) c.256G>A (p.Ala86Thr) c.142G>A (p.Ala48Thr) c.331G>A c.472G>A (p.Ala158Thr) | gnomAD v4 |
14 | g.53951893C>A | CA486658646 | BMP4 | c.330G>T (p.Pro110=) c.255G>T (p.Pro85=) c.141G>T (p.Pro47=) c.471G>T (p.Pro157=) | |
14 | g.53951893C= | CA2137819046 | BMP4 | c.330G= (p.Pro110=) c.255G= (p.Pro85=) c.141G= (p.Pro47=) c.471G= (p.Pro157=) | |
14 | g.53951893C>G | CA7191790 | BMP4 | c.330G>C (p.Pro110=) c.255G>C (p.Pro85=) c.141G>C (p.Pro47=) c.471G>C (p.Pro157=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951893C>T | CA7191791 | BMP4 | c.330G>A (p.Pro110=) c.255G>A (p.Pro85=) c.141G>A (p.Pro47=) c.471G>A (p.Pro157=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53951894G>A | CA261472779 | BMP4 | c.329C>T (p.Pro110Leu) c.254C>T (p.Pro85Leu) c.140C>T (p.Pro47Leu) c.470C>T (p.Pro157Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951894G>C | CA389785080 | BMP4 | c.329C>G (p.Pro110Arg) c.254C>G (p.Pro85Arg) c.140C>G (p.Pro47Arg) c.470C>G (p.Pro157Arg) | |
14 | g.53951894G= | CA2137819051 | BMP4 | c.329C= (p.Pro110=) c.254C= (p.Pro85=) c.140C= (p.Pro47=) c.470C= (p.Pro157=) | |
14 | g.53951894G>T | CA389785081 | BMP4 | c.329C>A (p.Pro110Gln) c.254C>A (p.Pro85Gln) c.140C>A (p.Pro47Gln) c.470C>A (p.Pro157Gln) | |
14 | g.53951895G>A | CA389785082 | BMP4 | c.328C>T (p.Pro110Ser) c.253C>T (p.Pro85Ser) c.139C>T (p.Pro47Ser) c.469C>T (p.Pro157Ser) | |
14 | g.53951895G>C | CA389785083 | BMP4 | c.328C>G (p.Pro110Ala) c.253C>G (p.Pro85Ala) c.139C>G (p.Pro47Ala) c.469C>G (p.Pro157Ala) | |
14 | g.53951895G>T | CA389785084 | BMP4 | c.328C>A (p.Pro110Thr) c.253C>A (p.Pro85Thr) c.139C>A (p.Pro47Thr) c.469C>A (p.Pro157Thr) | |
14 | g.53951896G>A | CA486658660 | BMP4 | c.327C>T (p.Arg109=) c.252C>T (p.Arg84=) c.138C>T (p.Arg46=) c.468C>T (p.Arg156=) | |
14 | g.53951896G>C | CA486658654 | BMP4 | c.327C>G (p.Arg109=) c.252C>G (p.Arg84=) c.138C>G (p.Arg46=) c.468C>G (p.Arg156=) | |
14 | g.53951896G>T | CA486658652 | BMP4 | c.327C>A (p.Arg109=) c.252C>A (p.Arg84=) c.138C>A (p.Arg46=) c.468C>A (p.Arg156=) | |
14 | g.53951897C>A | CA7191792 | BMP4 | c.326G>T (p.Arg109Leu) c.251G>T (p.Arg84Leu) c.137G>T (p.Arg46Leu) c.467G>T (p.Arg156Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951897C= | CA2137819054 | BMP4 | c.326G= (p.Arg109=) c.251G= (p.Arg84=) c.137G= (p.Arg46=) c.467G= (p.Arg156=) | |
14 | g.53951897C>G | CA7191793 | BMP4 | c.326G>C (p.Arg109Pro) c.251G>C (p.Arg84Pro) c.137G>C (p.Arg46Pro) c.467G>C (p.Arg156Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53951897C>T | CA261472780 | BMP4 | c.326G>A (p.Arg109His) c.251G>A (p.Arg84His) c.137G>A (p.Arg46His) c.467G>A (p.Arg156His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951898G>A | CA389785086 | BMP4 | c.325C>T (p.Arg109Cys) c.250C>T (p.Arg84Cys) c.136C>T (p.Arg46Cys) c.466C>T (p.Arg156Cys) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951898G>C | CA389785085 | BMP4 | c.325C>G (p.Arg109Gly) c.250C>G (p.Arg84Gly) c.136C>G (p.Arg46Gly) c.466C>G (p.Arg156Gly) | |
14 | g.53951898G= | CA2137819057 | BMP4 | c.325C= (p.Arg109=) c.250C= (p.Arg84=) c.136C= (p.Arg46=) c.466C= (p.Arg156=) | |
14 | g.53951898G>T | CA389785087 | BMP4 | c.325C>A (p.Arg109Ser) c.250C>A (p.Arg84Ser) c.136C>A (p.Arg46Ser) c.466C>A (p.Arg156Ser) | gnomAD v4 |
14 | g.53951899C>A | CA389785088 | BMP4 | c.324G>T (p.Glu108Asp) c.249G>T (p.Glu83Asp) c.135G>T (p.Glu45Asp) c.465G>T (p.Glu155Asp) | gnomAD v4 |
14 | g.53951899C>G | CA389785089 | BMP4 | c.324G>C (p.Glu108Asp) c.249G>C (p.Glu83Asp) c.135G>C (p.Glu45Asp) c.465G>C (p.Glu155Asp) | gnomAD v4 |
14 | g.53951899C>T | CA486658571 | BMP4 | c.324G>A (p.Glu108=) c.249G>A (p.Glu83=) c.135G>A (p.Glu45=) c.465G>A (p.Glu155=) | |
14 | g.53951900T>A | CA389785090 | BMP4 | c.323A>T (p.Glu108Val) c.248A>T (p.Glu83Val) c.134A>T (p.Glu45Val) c.464A>T (p.Glu155Val) | |
14 | g.53951900T>C | CA389785091 | BMP4 | c.323A>G (p.Glu108Gly) c.248A>G (p.Glu83Gly) c.134A>G (p.Glu45Gly) c.464A>G (p.Glu155Gly) | |
14 | g.53951900T>G | CA389785092 | BMP4 | c.323A>C (p.Glu108Ala) c.248A>C (p.Glu83Ala) c.134A>C (p.Glu45Ala) c.464A>C (p.Glu155Ala) | |
14 | g.53951901C>A | CA389785093 | BMP4 | c.322G>T (p.Glu108Ter) c.247G>T (p.Glu83Ter) c.133G>T (p.Glu45Ter) c.463G>T (p.Glu155Ter) | |
14 | g.53951901C= | CA2137819060 | BMP4 | c.322G= (p.Glu108=) c.247G= (p.Glu83=) c.133G= (p.Glu45=) c.463G= (p.Glu155=) | |
14 | g.53951901C>G | CA389785094 | BMP4 | c.322G>C (p.Glu108Gln) c.247G>C (p.Glu83Gln) c.133G>C (p.Glu45Gln) c.463G>C (p.Glu155Gln) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951901C>T | CA389785095 | BMP4 | c.322G>A (p.Glu108Lys) c.247G>A (p.Glu83Lys) c.133G>A (p.Glu45Lys) c.463G>A (p.Glu155Lys) | |
14 | g.53951902A= | CA2137819065 | BMP4 | c.321T= (p.Pro107=) c.246T= (p.Pro82=) c.132T= (p.Pro44=) c.462T= (p.Pro154=) | |
14 | g.53951902A>C | CA486658576 | BMP4 | c.321T>G (p.Pro107=) c.246T>G (p.Pro82=) c.132T>G (p.Pro44=) c.462T>G (p.Pro154=) | |
14 | g.53951902A>G | CA7191794 | BMP4 | c.321T>C (p.Pro107=) c.246T>C (p.Pro82=) c.132T>C (p.Pro44=) c.462T>C (p.Pro154=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951902A>T | CA486658577 | BMP4 | c.321T>A (p.Pro107=) c.246T>A (p.Pro82=) c.132T>A (p.Pro44=) c.462T>A (p.Pro154=) | |
14 | g.53951903G>A | CA389785096 | BMP4 | c.320C>T (p.Pro107Leu) c.245C>T (p.Pro82Leu) c.131C>T (p.Pro44Leu) c.461C>T (p.Pro154Leu) | |
14 | g.53951903G>C | CA389785097 | BMP4 | c.320C>G (p.Pro107Arg) c.245C>G (p.Pro82Arg) c.131C>G (p.Pro44Arg) c.461C>G (p.Pro154Arg) | |
14 | g.53951903G>T | CA389785098 | BMP4 | c.320C>A (p.Pro107His) c.245C>A (p.Pro82His) c.131C>A (p.Pro44His) c.461C>A (p.Pro154His) | gnomAD v4 |
14 | g.53951904G>A | CA389785099 | BMP4 | c.319C>T (p.Pro107Ser) c.244C>T (p.Pro82Ser) c.130C>T (p.Pro44Ser) c.460C>T (p.Pro154Ser) | gnomAD v4 |
14 | g.53951904G>C | CA389785100 | BMP4 | c.319C>G (p.Pro107Ala) c.244C>G (p.Pro82Ala) c.130C>G (p.Pro44Ala) c.460C>G (p.Pro154Ala) | |
14 | g.53951904G>T | CA389785101 | BMP4 | c.319C>A (p.Pro107Thr) c.244C>A (p.Pro82Thr) c.130C>A (p.Pro44Thr) c.460C>A (p.Pro154Thr) | gnomAD v4 |
14 | g.53951905A= | CA2137819068 | BMP4 | c.318T= (p.Tyr106=) c.243T= (p.Tyr81=) c.129T= (p.Tyr43=) c.459T= (p.Tyr153=) | |
14 | g.53951905A>C | CA389785102 | BMP4 | c.318T>G (p.Tyr106Ter) c.243T>G (p.Tyr81Ter) c.129T>G (p.Tyr43Ter) c.459T>G (p.Tyr153Ter) | |
14 | g.53951905A>G | CA486658584 | BMP4 | c.318T>C (p.Tyr106=) c.243T>C (p.Tyr81=) c.129T>C (p.Tyr43=) c.459T>C (p.Tyr153=) | dbSNP gnomAD v2 |
14 | g.53951905A>T | CA389785103 | BMP4 | c.318T>A (p.Tyr106Ter) c.243T>A (p.Tyr81Ter) c.129T>A (p.Tyr43Ter) c.459T>A (p.Tyr153Ter) | gnomAD v4 |
14 | g.53951906T>A | CA389785104 | BMP4 | c.317A>T (p.Tyr106Phe) c.242A>T (p.Tyr81Phe) c.128A>T (p.Tyr43Phe) c.458A>T (p.Tyr153Phe) | |
14 | g.53951906T>C | CA389785105 | BMP4 | c.317A>G (p.Tyr106Cys) c.242A>G (p.Tyr81Cys) c.128A>G (p.Tyr43Cys) c.458A>G (p.Tyr153Cys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53951906T>G | CA389785106 | BMP4 | c.317A>C (p.Tyr106Ser) c.242A>C (p.Tyr81Ser) c.128A>C (p.Tyr43Ser) c.458A>C (p.Tyr153Ser) | |
14 | g.53951906T= | CA2137819070 | BMP4 | c.317A= (p.Tyr106=) c.242A= (p.Tyr81=) c.128A= (p.Tyr43=) c.458A= (p.Tyr153=) | |
14 | g.53951907A= | CA2137819072 | BMP4 | c.316T= (p.Tyr106=) c.241T= (p.Tyr81=) c.127T= (p.Tyr43=) c.457T= (p.Tyr153=) | |
14 | g.53951907A>C | CA389785107 | BMP4 | c.316T>G (p.Tyr106Asp) c.241T>G (p.Tyr81Asp) c.127T>G (p.Tyr43Asp) c.457T>G (p.Tyr153Asp) | |
14 | g.53951907A>G | CA389785108 | BMP4 | c.316T>C (p.Tyr106His) c.241T>C (p.Tyr81His) c.127T>C (p.Tyr43His) c.457T>C (p.Tyr153His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951907A>T | CA389785109 | BMP4 | c.316T>A (p.Tyr106Asn) c.241T>A (p.Tyr81Asn) c.127T>A (p.Tyr43Asn) c.457T>A (p.Tyr153Asn) | |
14 | g.53951908C>A | CA389785110 | BMP4 | c.315G>T (p.Glu105Asp) c.240G>T (p.Glu80Asp) c.126G>T (p.Glu42Asp) c.456G>T (p.Glu152Asp) | |
14 | g.53951908C= | CA2137819079 | BMP4 | c.315G= (p.Glu105=) c.240G= (p.Glu80=) c.126G= (p.Glu42=) c.456G= (p.Glu152=) | |
14 | g.53951908C>G | CA389785111 | BMP4 | c.315G>C (p.Glu105Asp) c.240G>C (p.Glu80Asp) c.126G>C (p.Glu42Asp) c.456G>C (p.Glu152Asp) | |
14 | g.53951908C>T | CA7191795 | BMP4 | c.315G>A (p.Glu105=) c.240G>A (p.Glu80=) c.126G>A (p.Glu42=) c.456G>A (p.Glu152=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951909T>A | CA389785112 | BMP4 | c.314A>T (p.Glu105Val) c.239A>T (p.Glu80Val) c.125A>T (p.Glu42Val) c.455A>T (p.Glu152Val) | |
14 | g.53951909T>C | CA389785113 | BMP4 | c.314A>G (p.Glu105Gly) c.239A>G (p.Glu80Gly) c.125A>G (p.Glu42Gly) c.455A>G (p.Glu152Gly) | |
14 | g.53951909T>G | CA389785114 | BMP4 | c.314A>C (p.Glu105Ala) c.239A>C (p.Glu80Ala) c.125A>C (p.Glu42Ala) c.455A>C (p.Glu152Ala) | |
14 | g.53951910C>A | CA389785115 | BMP4 | c.313G>T (p.Glu105Ter) c.238G>T (p.Glu80Ter) c.124G>T (p.Glu42Ter) c.454G>T (p.Glu152Ter) | gnomAD v4 |
14 | g.53951910C= | CA2137819084 | BMP4 | c.313G= (p.Glu105=) c.238G= (p.Glu80=) c.124G= (p.Glu42=) c.454G= (p.Glu152=) | |
14 | g.53951910C>G | CA389785117 | BMP4 | c.313G>C (p.Glu105Gln) c.238G>C (p.Glu80Gln) c.124G>C (p.Glu42Gln) c.454G>C (p.Glu152Gln) | gnomAD v4 COSMIC |
14 | g.53951910C>T | CA389785116 | BMP4 | c.313G>A (p.Glu105Lys) c.238G>A (p.Glu80Lys) c.124G>A (p.Glu42Lys) c.454G>A (p.Glu152Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951911A= | CA2137819086 | BMP4 | c.312T= (p.Leu104=) c.237T= (p.Leu79=) c.123T= (p.Leu41=) c.453T= (p.Leu151=) | |
14 | g.53951911A>C | CA7191796 | BMP4 | c.312T>G (p.Leu104=) c.237T>G (p.Leu79=) c.123T>G (p.Leu41=) c.453T>G (p.Leu151=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53951911A>G | CA486658594 | BMP4 | c.312T>C (p.Leu104=) c.237T>C (p.Leu79=) c.123T>C (p.Leu41=) c.453T>C (p.Leu151=) | |
14 | g.53951911A>T | CA486658596 | BMP4 | c.312T>A (p.Leu104=) c.237T>A (p.Leu79=) c.123T>A (p.Leu41=) c.453T>A (p.Leu151=) | |
14 | g.53951912A>C | CA389785118 | BMP4 | c.311T>G (p.Leu104Arg) c.236T>G (p.Leu79Arg) c.122T>G (p.Leu41Arg) c.452T>G (p.Leu151Arg) | |
14 | g.53951912A>G | CA389785119 | BMP4 | c.311T>C (p.Leu104Pro) c.236T>C (p.Leu79Pro) c.122T>C (p.Leu41Pro) c.452T>C (p.Leu151Pro) | |
14 | g.53951912A>T | CA389785120 | BMP4 | c.311T>A (p.Leu104His) c.236T>A (p.Leu79His) c.122T>A (p.Leu41His) c.452T>A (p.Leu151His) | |
14 | g.53951913G>A | CA389785121 | BMP4 | c.310C>T (p.Leu104Phe) c.235C>T (p.Leu79Phe) c.121C>T (p.Leu41Phe) c.451C>T (p.Leu151Phe) | gnomAD v4 |
14 | g.53951913G>C | CA389785122 | BMP4 | c.310C>G (p.Leu104Val) c.235C>G (p.Leu79Val) c.121C>G (p.Leu41Val) c.451C>G (p.Leu151Val) | gnomAD v4 |
14 | g.53951913G>T | CA389785123 | BMP4 | c.310C>A (p.Leu104Ile) c.235C>A (p.Leu79Ile) c.121C>A (p.Leu41Ile) c.451C>A (p.Leu151Ile) | gnomAD v4 |
14 | g.53951914A= | CA2137819089 | BMP4 | c.309T= (p.Gly103=) c.234T= (p.Gly78=) c.120T= (p.Gly40=) c.450T= (p.Gly150=) | |
14 | g.53951914A>C | CA486658602 | BMP4 | c.309T>G (p.Gly103=) c.234T>G (p.Gly78=) c.120T>G (p.Gly40=) c.450T>G (p.Gly150=) | gnomAD v4 |
14 | g.53951914A>G | CA486658603 | BMP4 | c.309T>C (p.Gly103=) c.234T>C (p.Gly78=) c.120T>C (p.Gly40=) c.450T>C (p.Gly150=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53951914A>T | CA486658604 | BMP4 | c.309T>A (p.Gly103=) c.234T>A (p.Gly78=) c.120T>A (p.Gly40=) c.450T>A (p.Gly150=) | |
14 | g.53951915C>A | CA389785124 | BMP4 | c.308G>T (p.Gly103Val) c.233G>T (p.Gly78Val) c.119G>T (p.Gly40Val) c.449G>T (p.Gly150Val) | |
14 | g.53951915C>G | CA389785125 | BMP4 | c.308G>C (p.Gly103Ala) c.233G>C (p.Gly78Ala) c.119G>C (p.Gly40Ala) c.449G>C (p.Gly150Ala) | |
14 | g.53951915C>T | CA389785126 | BMP4 | c.308G>A (p.Gly103Asp) c.233G>A (p.Gly78Asp) c.119G>A (p.Gly40Asp) c.449G>A (p.Gly150Asp) | |
14 | g.53951916C>A | CA389785127 | BMP4 | c.307G>T (p.Gly103Cys) c.232G>T (p.Gly78Cys) c.118G>T (p.Gly40Cys) c.448G>T (p.Gly150Cys) | |
14 | g.53951916C= | CA2137819091 | BMP4 | c.307G= (p.Gly103=) c.232G= (p.Gly78=) c.118G= (p.Gly40=) c.448G= (p.Gly150=) | |
14 | g.53951916C>G | CA389785128 | BMP4 | c.307G>C (p.Gly103Arg) c.232G>C (p.Gly78Arg) c.118G>C (p.Gly40Arg) c.448G>C (p.Gly150Arg) | |
14 | g.53951916C>T | CA389785129 | BMP4 | c.307G>A (p.Gly103Ser) c.232G>A (p.Gly78Ser) c.118G>A (p.Gly40Ser) c.448G>A (p.Gly150Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.53951917A>C | CA486658611 | BMP4 | c.306T>G (p.Thr102=) c.231T>G (p.Thr77=) c.117T>G (p.Thr39=) c.447T>G (p.Thr149=) | |
14 | g.53951917A>G | CA486658610 | BMP4 | c.306T>C (p.Thr102=) c.231T>C (p.Thr77=) c.117T>C (p.Thr39=) c.447T>C (p.Thr149=) | |
14 | g.53951917A>T | CA486658609 | BMP4 | c.306T>A (p.Thr102=) c.231T>A (p.Thr77=) c.117T>A (p.Thr39=) c.447T>A (p.Thr149=) | |
14 | g.53951918G>A | CA7191797 | BMP4 | c.305C>T (p.Thr102Ile) c.230C>T (p.Thr77Ile) c.116C>T (p.Thr39Ile) c.446C>T (p.Thr149Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951918G>C | CA389785131 | BMP4 | c.305C>G (p.Thr102Ser) c.230C>G (p.Thr77Ser) c.116C>G (p.Thr39Ser) c.446C>G (p.Thr149Ser) | |
14 | g.53951918G= | CA2137819098 | BMP4 | c.305C= (p.Thr102=) c.230C= (p.Thr77=) c.116C= (p.Thr39=) c.446C= (p.Thr149=) | |
14 | g.53951918G>T | CA389785130 | BMP4 | c.305C>A (p.Thr102Asn) c.230C>A (p.Thr77Asn) c.116C>A (p.Thr39Asn) c.446C>A (p.Thr149Asn) | gnomAD v4 |
14 | g.53951919T>A | CA389785132 | BMP4 | c.304A>T (p.Thr102Ser) c.229A>T (p.Thr77Ser) c.115A>T (p.Thr39Ser) c.445A>T (p.Thr149Ser) | |
14 | g.53951919T>C | CA7191798 | BMP4 | c.304A>G (p.Thr102Ala) c.229A>G (p.Thr77Ala) c.115A>G (p.Thr39Ala) c.445A>G (p.Thr149Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951919T>G | CA389785133 | BMP4 | c.304A>C (p.Thr102Pro) c.229A>C (p.Thr77Pro) c.115A>C (p.Thr39Pro) c.445A>C (p.Thr149Pro) | dbSNP gnomAD v4 |
14 | g.53951919T= | CA2137819102 | BMP4 | c.304A= (p.Thr102=) c.229A= (p.Thr77=) c.115A= (p.Thr39=) c.445A= (p.Thr149=) | |
14 | g.53951920G>A | CA486658612 | BMP4 | c.303C>T (p.Ser101=) c.228C>T (p.Ser76=) c.114C>T (p.Ser38=) c.444C>T (p.Ser148=) | gnomAD v4 |
14 | g.53951920G>C | CA389785134 | BMP4 | c.303C>G (p.Ser101Arg) c.228C>G (p.Ser76Arg) c.114C>G (p.Ser38Arg) c.444C>G (p.Ser148Arg) | |
14 | g.53951920G= | CA2137819107 | BMP4 | c.303C= (p.Ser101=) c.228C= (p.Ser76=) c.114C= (p.Ser38=) c.444C= (p.Ser148=) | |
14 | g.53951920G>T | CA389785135 | BMP4 | c.303C>A (p.Ser101Arg) c.228C>A (p.Ser76Arg) c.114C>A (p.Ser38Arg) c.444C>A (p.Ser148Arg) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53951921C>A | CA389785136 | BMP4 | c.302G>T (p.Ser101Ile) c.227G>T (p.Ser76Ile) c.113G>T (p.Ser38Ile) c.443G>T (p.Ser148Ile) | |
14 | g.53951921C>G | CA389785137 | BMP4 | c.302G>C (p.Ser101Thr) c.227G>C (p.Ser76Thr) c.113G>C (p.Ser38Thr) c.443G>C (p.Ser148Thr) | |
14 | g.53951921C>T | CA389785138 | BMP4 | c.302G>A (p.Ser101Asn) c.227G>A (p.Ser76Asn) c.113G>A (p.Ser38Asn) c.443G>A (p.Ser148Asn) | gnomAD v4 |
14 | g.53951922T>A | CA389785139 | BMP4 | c.301A>T (p.Ser101Cys) c.226A>T (p.Ser76Cys) c.112A>T (p.Ser38Cys) c.442A>T (p.Ser148Cys) | |
14 | g.53951922T>C | CA389785140 | BMP4 | c.301A>G (p.Ser101Gly) c.226A>G (p.Ser76Gly) c.112A>G (p.Ser38Gly) c.442A>G (p.Ser148Gly) | |
14 | g.53951922T>G | CA389785141 | BMP4 | c.301A>C (p.Ser101Arg) c.226A>C (p.Ser76Arg) c.112A>C (p.Ser38Arg) c.442A>C (p.Ser148Arg) | |
14 | g.53951923G>A | CA486658614 | BMP4 | c.300C>T (p.His100=) c.225C>T (p.His75=) c.111C>T (p.His37=) c.441C>T (p.His147=) | gnomAD v4 |
14 | g.53951923G>C | CA389785142 | BMP4 | c.300C>G (p.His100Gln) c.225C>G (p.His75Gln) c.111C>G (p.His37Gln) c.441C>G (p.His147Gln) | |
14 | g.53951923G>T | CA389785143 | BMP4 | c.300C>A (p.His100Gln) c.225C>A (p.His75Gln) c.111C>A (p.His37Gln) c.441C>A (p.His147Gln) | gnomAD v4 |
14 | g.53951924T>A | CA389785144 | BMP4 | c.299A>T (p.His100Leu) c.224A>T (p.His75Leu) c.110A>T (p.His37Leu) c.440A>T (p.His147Leu) | |
14 | g.53951924T>C | CA389785145 | BMP4 | c.299A>G (p.His100Arg) c.224A>G (p.His75Arg) c.110A>G (p.His37Arg) c.440A>G (p.His147Arg) | |
14 | g.53951924T>G | CA389785146 | BMP4 | c.299A>C (p.His100Pro) c.224A>C (p.His75Pro) c.110A>C (p.His37Pro) c.440A>C (p.His147Pro) | |
14 | g.53951925G>A | CA389785147 | BMP4 | c.298C>T (p.His100Tyr) c.223C>T (p.His75Tyr) c.109C>T (p.His37Tyr) c.439C>T (p.His147Tyr) | |
14 | g.53951925G>C | CA389785148 | BMP4 | c.298C>G (p.His100Asp) c.223C>G (p.His75Asp) c.109C>G (p.His37Asp) c.439C>G (p.His147Asp) | |
14 | g.53951925G>T | CA389785149 | BMP4 | c.298C>A (p.His100Asn) c.223C>A (p.His75Asn) c.109C>A (p.His37Asn) c.439C>A (p.His147Asn) | gnomAD v4 |
14 | g.53951926G>A | CA486658622 | BMP4 | c.297C>T (p.Ile99=) c.222C>T (p.Ile74=) c.108C>T (p.Ile36=) c.438C>T (p.Ile146=) | |
14 | g.53951926G>C | CA389785150 | BMP4 | c.297C>G (p.Ile99Met) c.222C>G (p.Ile74Met) c.108C>G (p.Ile36Met) c.438C>G (p.Ile146Met) | |
14 | g.53951926G>T | CA486658625 | BMP4 | c.297C>A (p.Ile99=) c.222C>A (p.Ile74=) c.108C>A (p.Ile36=) c.438C>A (p.Ile146=) | gnomAD v4 |
14 | g.53951927A>C | CA389785153 | BMP4 | c.296T>G (p.Ile99Ser) c.221T>G (p.Ile74Ser) c.107T>G (p.Ile36Ser) c.437T>G (p.Ile146Ser) | |
14 | g.53951927A>G | CA389785151 | BMP4 | c.296T>C (p.Ile99Thr) c.221T>C (p.Ile74Thr) c.107T>C (p.Ile36Thr) c.437T>C (p.Ile146Thr) | |
14 | g.53951927A>T | CA389785152 | BMP4 | c.296T>A (p.Ile99Asn) c.221T>A (p.Ile74Asn) c.107T>A (p.Ile36Asn) c.437T>A (p.Ile146Asn) | |
14 | g.53951928T>A | CA389785154 | BMP4 | c.295A>T (p.Ile99Phe) c.220A>T (p.Ile74Phe) c.106A>T (p.Ile36Phe) c.436A>T (p.Ile146Phe) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951928T>C | CA389785155 | BMP4 | c.295A>G (p.Ile99Val) c.220A>G (p.Ile74Val) c.106A>G (p.Ile36Val) c.436A>G (p.Ile146Val) | ClinVar dbSNP gnomAD v4 |
14 | g.53951928T>G | CA389785156 | BMP4 | c.295A>C (p.Ile99Leu) c.220A>C (p.Ile74Leu) c.106A>C (p.Ile36Leu) c.436A>C (p.Ile146Leu) | |
14 | g.53951928T= | CA2137819112 | BMP4 | c.295A= (p.Ile99=) c.220A= (p.Ile74=) c.106A= (p.Ile36=) c.436A= (p.Ile146=) | |
14 | g.53951929_53951930del | CA2729800166 | BMP4 | c.294_295del (p.Gln98HisfsTer7) c.219_220del (p.Gln73HisfsTer7) c.105_106del (p.Gln35HisfsTer7) c.435_436del (p.Gln145HisfsTer7) | dbSNP |
14 | g.53951929C>A | CA389785157 | BMP4 | c.294G>T (p.Gln98His) c.219G>T (p.Gln73His) c.105G>T (p.Gln35His) c.435G>T (p.Gln145His) | |
14 | g.53951929C>G | CA389785158 | BMP4 | c.294G>C (p.Gln98His) c.219G>C (p.Gln73His) c.105G>C (p.Gln35His) c.435G>C (p.Gln145His) | |
14 | g.53951929C>T | CA486658627 | BMP4 | c.294G>A (p.Gln98=) c.219G>A (p.Gln73=) c.105G>A (p.Gln35=) c.435G>A (p.Gln145=) | |
14 | g.53951930T>A | CA389785159 | BMP4 | c.293A>T (p.Gln98Leu) c.218A>T (p.Gln73Leu) c.104A>T (p.Gln35Leu) c.434A>T (p.Gln145Leu) | |
14 | g.53951930T>C | CA389785161 | BMP4 | c.293A>G (p.Gln98Arg) c.218A>G (p.Gln73Arg) c.104A>G (p.Gln35Arg) c.434A>G (p.Gln145Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.53951930T>G | CA389785160 | BMP4 | c.293A>C (p.Gln98Pro) c.218A>C (p.Gln73Pro) c.104A>C (p.Gln35Pro) c.434A>C (p.Gln145Pro) | |
14 | g.53951930T= | CA2137819115 | BMP4 | c.293A= (p.Gln98=) c.218A= (p.Gln73=) c.104A= (p.Gln35=) c.434A= (p.Gln145=) | |
14 | g.53951931G>A | CA389785162 | BMP4 | c.292C>T (p.Gln98Ter) c.217C>T (p.Gln73Ter) c.103C>T (p.Gln35Ter) c.433C>T (p.Gln145Ter) | |
14 | g.53951931G>C | CA389785163 | BMP4 | c.292C>G (p.Gln98Glu) c.217C>G (p.Gln73Glu) c.103C>G (p.Gln35Glu) c.433C>G (p.Gln145Glu) | gnomAD v4 |
14 | g.53951931G>T | CA389785164 | BMP4 | c.292C>A (p.Gln98Lys) c.217C>A (p.Gln73Lys) c.103C>A (p.Gln35Lys) c.433C>A (p.Gln145Lys) | gnomAD v4 |
14 | g.53951932C>A | CA389785165 | BMP4 | c.291G>T (p.Glu97Asp) c.216G>T (p.Glu72Asp) c.102G>T (p.Glu34Asp) c.432G>T (p.Glu144Asp) | |
14 | g.53951932C= | CA2137819119 | BMP4 | c.291G= (p.Glu97=) c.216G= (p.Glu72=) c.102G= (p.Glu34=) c.432G= (p.Glu144=) | |
14 | g.53951932C>G | CA389785166 | BMP4 | c.291G>C (p.Glu97Asp) c.216G>C (p.Glu72Asp) c.102G>C (p.Glu34Asp) c.432G>C (p.Glu144Asp) | dbSNP |
14 | g.53951932C>T | CA486658631 | BMP4 | c.291G>A (p.Glu97=) c.216G>A (p.Glu72=) c.102G>A (p.Glu34=) c.432G>A (p.Glu144=) | ClinVar dbSNP |
14 | g.53951933T>A | CA389785167 | BMP4 | c.290A>T (p.Glu97Val) c.215A>T (p.Glu72Val) c.101A>T (p.Glu34Val) c.431A>T (p.Glu144Val) | |
14 | g.53951933T>C | CA389785168 | BMP4 | c.290A>G (p.Glu97Gly) c.215A>G (p.Glu72Gly) c.101A>G (p.Glu34Gly) c.431A>G (p.Glu144Gly) | gnomAD v4 |
14 | g.53951933T>G | CA389785169 | BMP4 | c.290A>C (p.Glu97Ala) c.215A>C (p.Glu72Ala) c.101A>C (p.Glu34Ala) c.431A>C (p.Glu144Ala) | |
14 | g.53951935_53951937dup | CA2801617670 | BMP4 | c.288_290dup (p.Glu97_Gln98insGlu) c.213_215dup (p.Glu72_Gln73insGlu) c.99_101dup (p.Glu34_Gln35insGlu) c.429_431dup (p.Glu144_Gln145insGlu) | |
14 | g.53951934C>A | CA389785170 | BMP4 | c.289G>T (p.Glu97Ter) c.214G>T (p.Glu72Ter) c.100G>T (p.Glu34Ter) c.430G>T (p.Glu144Ter) | |
14 | g.53951934C= | CA2137819123 | BMP4 | c.289G= (p.Glu97=) c.214G= (p.Glu72=) c.100G= (p.Glu34=) c.430G= (p.Glu144=) | |
14 | g.53951934C>G | CA389785171 | BMP4 | c.289G>C (p.Glu97Gln) c.214G>C (p.Glu72Gln) c.100G>C (p.Glu34Gln) c.430G>C (p.Glu144Gln) | |
14 | g.53951934C>T | CA389785172 | BMP4 | c.289G>A (p.Glu97Lys) c.214G>A (p.Glu72Lys) c.100G>A (p.Glu34Lys) c.430G>A (p.Glu144Lys) | dbSNP gnomAD v4 |
14 | g.53951935T>A | CA389785173 | BMP4 | c.288A>T (p.Glu96Asp) c.213A>T (p.Glu71Asp) c.99A>T (p.Glu33Asp) c.429A>T (p.Glu143Asp) | |
14 | g.53951935T>C | CA10644280 | BMP4 | c.288A>G (p.Glu96=) c.213A>G (p.Glu71=) c.99A>G (p.Glu33=) c.429A>G (p.Glu143=) | ClinVar dbSNP gnomAD v4 |
14 | g.53951935T>G | CA389785174 | BMP4 | c.288A>C (p.Glu96Asp) c.213A>C (p.Glu71Asp) c.99A>C (p.Glu33Asp) c.429A>C (p.Glu143Asp) | |
14 | g.53951935T= | CA2137819129 | BMP4 | c.288A= (p.Glu96=) c.213A= (p.Glu71=) c.99A= (p.Glu33=) c.429A= (p.Glu143=) | |
14 | g.53951935_53951938delinsTTCC | CA2137819127 | BMP4 | c.285_288delinsGGAA (p.Glu95=) c.210_213delinsGGAA (p.Glu70=) c.96_99delinsGGAA (p.Glu32=) c.426_429delinsGGAA (p.Glu142=) | |
14 | g.53951936T>A | CA389785175 | BMP4 | c.287A>T (p.Glu96Val) c.212A>T (p.Glu71Val) c.98A>T (p.Glu33Val) c.428A>T (p.Glu143Val) | |
14 | g.53951936T>C | CA389785176 | BMP4 | c.287A>G (p.Glu96Gly) c.212A>G (p.Glu71Gly) c.98A>G (p.Glu33Gly) c.428A>G (p.Glu143Gly) | |
14 | g.53951936T>G | CA389785177 | BMP4 | c.287A>C (p.Glu96Ala) c.212A>C (p.Glu71Ala) c.98A>C (p.Glu33Ala) c.428A>C (p.Glu143Ala) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951936T= | CA2137819133 | BMP4 | c.287A= (p.Glu96=) c.212A= (p.Glu71=) c.98A= (p.Glu33=) c.428A= (p.Glu143=) | |
14 | g.53951945_53951947del | CA614278114 | BMP4 | c.285_287del (p.Glu96del) c.210_212del (p.Glu71del) c.96_98del (p.Glu33del) c.426_428del (p.Glu143del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951937C>A | CA389785178 | BMP4 | c.286G>T (p.Glu96Ter) c.211G>T (p.Glu71Ter) c.97G>T (p.Glu33Ter) c.427G>T (p.Glu143Ter) | |
14 | g.53951937C= | CA2137819144 | BMP4 | c.286G= (p.Glu96=) c.211G= (p.Glu71=) c.97G= (p.Glu33=) c.427G= (p.Glu143=) | |
14 | g.53951937C>G | CA389785179 | BMP4 | c.286G>C (p.Glu96Gln) c.211G>C (p.Glu71Gln) c.97G>C (p.Glu33Gln) c.427G>C (p.Glu143Gln) | |
14 | g.53951937C>T | CA389785180 | BMP4 | c.286G>A (p.Glu96Lys) c.211G>A (p.Glu71Lys) c.97G>A (p.Glu33Lys) c.427G>A (p.Glu143Lys) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53951938C>A | CA389785181 | BMP4 | c.285G>T (p.Glu95Asp) c.210G>T (p.Glu70Asp) c.96G>T (p.Glu32Asp) c.426G>T (p.Glu142Asp) | |
14 | g.53951938C>G | CA389785182 | BMP4 | c.285G>C (p.Glu95Asp) c.210G>C (p.Glu70Asp) c.96G>C (p.Glu32Asp) c.426G>C (p.Glu142Asp) | |
14 | g.53951938C>T | CA486658633 | BMP4 | c.285G>A (p.Glu95=) c.210G>A (p.Glu70=) c.96G>A (p.Glu32=) c.426G>A (p.Glu142=) | gnomAD v4 |
14 | g.53951939T>A | CA389785183 | BMP4 | c.284A>T (p.Glu95Val) c.209A>T (p.Glu70Val) c.95A>T (p.Glu32Val) c.425A>T (p.Glu142Val) | |
14 | g.53951939T>C | CA389785184 | BMP4 | c.284A>G (p.Glu95Gly) c.209A>G (p.Glu70Gly) c.95A>G (p.Glu32Gly) c.425A>G (p.Glu142Gly) | dbSNP |
14 | g.53951939T>G | CA389785185 | BMP4 | c.284A>C (p.Glu95Ala) c.209A>C (p.Glu70Ala) c.95A>C (p.Glu32Ala) c.425A>C (p.Glu142Ala) | |
14 | g.53951939T= | CA2137819147 | BMP4 | c.284A= (p.Glu95=) c.209A= (p.Glu70=) c.95A= (p.Glu32=) c.425A= (p.Glu142=) | |
14 | g.53951940_53951941insTTC | CA2575530840 | BMP4 | c.284_285insAGA (p.Glu95_Glu96insGlu) c.209_210insAGA (p.Glu70_Glu71insGlu) c.95_96insAGA (p.Glu32_Glu33insGlu) c.425_426insAGA (p.Glu142_Glu143insGlu) | |
14 | g.53951940C>A | CA389785188 | BMP4 | c.283G>T (p.Glu95Ter) c.208G>T (p.Glu70Ter) c.94G>T (p.Glu32Ter) c.424G>T (p.Glu142Ter) | |
14 | g.53951940C= | CA2137819149 | BMP4 | c.283G= (p.Glu95=) c.208G= (p.Glu70=) c.94G= (p.Glu32=) c.424G= (p.Glu142=) | |
14 | g.53951940C>G | CA389785187 | BMP4 | c.283G>C (p.Glu95Gln) c.208G>C (p.Glu70Gln) c.94G>C (p.Glu32Gln) c.424G>C (p.Glu142Gln) | |
14 | g.53951940C>T | CA389785186 | BMP4 | c.283G>A (p.Glu95Lys) c.208G>A (p.Glu70Lys) c.94G>A (p.Glu32Lys) c.424G>A (p.Glu142Lys) | dbSNP gnomAD v2 |
14 | g.53951941C>A | CA389785189 | BMP4 | c.282G>T (p.Glu94Asp) c.207G>T (p.Glu69Asp) c.93G>T (p.Glu31Asp) c.423G>T (p.Glu141Asp) | |
14 | g.53951941C>G | CA389785190 | BMP4 | c.282G>C (p.Glu94Asp) c.207G>C (p.Glu69Asp) c.93G>C (p.Glu31Asp) c.423G>C (p.Glu141Asp) | |
14 | g.53951941C>T | CA486658637 | BMP4 | c.282G>A (p.Glu94=) c.207G>A (p.Glu69=) c.93G>A (p.Glu31=) c.423G>A (p.Glu141=) | |
14 | g.53951942T>A | CA389785191 | BMP4 | c.281A>T (p.Glu94Val) c.206A>T (p.Glu69Val) c.92A>T (p.Glu31Val) c.422A>T (p.Glu141Val) | |
14 | g.53951942T>C | CA389785192 | BMP4 | c.281A>G (p.Glu94Gly) c.206A>G (p.Glu69Gly) c.92A>G (p.Glu31Gly) c.422A>G (p.Glu141Gly) | gnomAD v4 |
14 | g.53951942T>G | CA389785193 | BMP4 | c.281A>C (p.Glu94Ala) c.206A>C (p.Glu69Ala) c.92A>C (p.Glu31Ala) c.422A>C (p.Glu141Ala) | |
14 | g.53951943C>A | CA389785194 | BMP4 | c.280G>T (p.Glu94Ter) c.205G>T (p.Glu69Ter) c.91G>T (p.Glu31Ter) c.421G>T (p.Glu141Ter) | |
14 | g.53951943C= | CA2137819152 | BMP4 | c.280G= (p.Glu94=) c.205G= (p.Glu69=) c.91G= (p.Glu31=) c.421G= (p.Glu141=) | |
14 | g.53951943C>G | CA389785195 | BMP4 | c.280G>C (p.Glu94Gln) c.205G>C (p.Glu69Gln) c.91G>C (p.Glu31Gln) c.421G>C (p.Glu141Gln) | dbSNP gnomAD v4 |
14 | g.53951943C>T | CA389785196 | BMP4 | c.280G>A (p.Glu94Lys) c.205G>A (p.Glu69Lys) c.91G>A (p.Glu31Lys) c.421G>A (p.Glu141Lys) | ClinVar gnomAD v4 |
14 | g.53951944C>A | CA389785197 | BMP4 | c.279G>T (p.Glu93Asp) c.204G>T (p.Glu68Asp) c.90G>T (p.Glu30Asp) c.420G>T (p.Glu140Asp) | |
14 | g.53951944C>G | CA389785198 | BMP4 | c.279G>C (p.Glu93Asp) c.204G>C (p.Glu68Asp) c.90G>C (p.Glu30Asp) c.420G>C (p.Glu140Asp) | |
14 | g.53951944C>T | CA486658645 | BMP4 | c.279G>A (p.Glu93=) c.204G>A (p.Glu68=) c.90G>A (p.Glu30=) c.420G>A (p.Glu140=) | |
14 | g.53951945T>A | CA389785199 | BMP4 | c.278A>T (p.Glu93Val) c.203A>T (p.Glu68Val) c.89A>T (p.Glu30Val) c.419A>T (p.Glu140Val) | |
14 | g.53951945T>C | CA258061 | BMP4 | c.278A>G (p.Glu93Gly) c.203A>G (p.Glu68Gly) c.89A>G (p.Glu30Gly) c.419A>G (p.Glu140Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951945T>G | CA389785200 | BMP4 | c.278A>C (p.Glu93Ala) c.203A>C (p.Glu68Ala) c.89A>C (p.Glu30Ala) c.419A>C (p.Glu140Ala) | |
14 | g.53951945T= | CA2137819156 | BMP4 | c.278A= (p.Glu93=) c.203A= (p.Glu68=) c.89A= (p.Glu30=) c.419A= (p.Glu140=) | |
14 | g.53951946C>A | CA389785202 | BMP4 | c.277G>T (p.Glu93Ter) c.202G>T (p.Glu68Ter) c.88G>T (p.Glu30Ter) c.418G>T (p.Glu140Ter) | ClinVar |
14 | g.53951946C>G | CA389785203 | BMP4 | c.277G>C (p.Glu93Gln) c.202G>C (p.Glu68Gln) c.88G>C (p.Glu30Gln) c.418G>C (p.Glu140Gln) | gnomAD v4 |
14 | g.53951946C>T | CA389785201 | BMP4 | c.277G>A (p.Glu93Lys) c.202G>A (p.Glu68Lys) c.88G>A (p.Glu30Lys) c.418G>A (p.Glu140Lys) | gnomAD v4 |
14 | g.53951949del | CA2624918606 | BMP4 | c.277del (p.Glu93ArgfsTer25) c.202del (p.Glu68ArgfsTer25) c.88del (p.Glu30ArgfsTer25) c.277del (p.Glu93ArgfsTer?) c.418del (p.Glu140ArgfsTer25) | gnomAD v4 |
14 | g.53951947C>A | CA486658649 | BMP4 | c.276G>T (p.Gly92=) c.201G>T (p.Gly67=) c.87G>T (p.Gly29=) c.417G>T (p.Gly139=) | |
14 | g.53951947C= | CA2137819160 | BMP4 | c.276G= (p.Gly92=) c.201G= (p.Gly67=) c.87G= (p.Gly29=) c.417G= (p.Gly139=) | |
14 | g.53951947C>G | CA486658650 | BMP4 | c.276G>C (p.Gly92=) c.201G>C (p.Gly67=) c.87G>C (p.Gly29=) c.417G>C (p.Gly139=) | |
14 | g.53951947C>T | CA7191799 | BMP4 | c.276G>A (p.Gly92=) c.201G>A (p.Gly67=) c.87G>A (p.Gly29=) c.417G>A (p.Gly139=) | dbSNP ExAC gnomAD v2 |
14 | g.53951948C>A | CA389785204 | BMP4 | c.275G>T (p.Gly92Val) c.200G>T (p.Gly67Val) c.86G>T (p.Gly29Val) c.416G>T (p.Gly139Val) | gnomAD v4 |
14 | g.53951948C>G | CA389785205 | BMP4 | c.275G>C (p.Gly92Ala) c.200G>C (p.Gly67Ala) c.86G>C (p.Gly29Ala) c.416G>C (p.Gly139Ala) | gnomAD v4 |
14 | g.53951948C>T | CA389785206 | BMP4 | c.275G>A (p.Gly92Glu) c.200G>A (p.Gly67Glu) c.86G>A (p.Gly29Glu) c.416G>A (p.Gly139Glu) | |
14 | g.53951949C>A | CA389785207 | BMP4 | c.274G>T (p.Gly92Trp) c.199G>T (p.Gly67Trp) c.85G>T (p.Gly29Trp) c.415G>T (p.Gly139Trp) | |
14 | g.53951949C>G | CA389785208 | BMP4 | c.274G>C (p.Gly92Arg) c.199G>C (p.Gly67Arg) c.85G>C (p.Gly29Arg) c.415G>C (p.Gly139Arg) | |
14 | g.53951949C>T | CA389785209 | BMP4 | c.274G>A (p.Gly92Arg) c.199G>A (p.Gly67Arg) c.85G>A (p.Gly29Arg) c.415G>A (p.Gly139Arg) | |
14 | g.53951950A>C | CA486658657 | BMP4 | c.273T>G (p.Ser91=) c.198T>G (p.Ser66=) c.84T>G (p.Ser28=) c.414T>G (p.Ser138=) | |
14 | g.53951950A>G | CA486658658 | BMP4 | c.273T>C (p.Ser91=) c.198T>C (p.Ser66=) c.84T>C (p.Ser28=) c.414T>C (p.Ser138=) | gnomAD v4 |
14 | g.53951950A>T | CA486658659 | BMP4 | c.273T>A (p.Ser91=) c.198T>A (p.Ser66=) c.84T>A (p.Ser28=) c.414T>A (p.Ser138=) | |
14 | g.53951951G>A | CA389785211 | BMP4 | c.272C>T (p.Ser91Phe) c.197C>T (p.Ser66Phe) c.83C>T (p.Ser28Phe) c.413C>T (p.Ser138Phe) | |
14 | g.53951951G>C | CA127330 | BMP4 | c.272C>G (p.Ser91Cys) c.197C>G (p.Ser66Cys) c.83C>G (p.Ser28Cys) c.413C>G (p.Ser138Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951951G= | CA2137819164 | BMP4 | c.272C= (p.Ser91=) c.197C= (p.Ser66=) c.83C= (p.Ser28=) c.413C= (p.Ser138=) | |
14 | g.53951951G>T | CA389785210 | BMP4 | c.272C>A (p.Ser91Tyr) c.197C>A (p.Ser66Tyr) c.83C>A (p.Ser28Tyr) c.413C>A (p.Ser138Tyr) | gnomAD v4 |
14 | g.53951952A>C | CA389785212 | BMP4 | c.271T>G (p.Ser91Ala) c.196T>G (p.Ser66Ala) c.82T>G (p.Ser28Ala) c.412T>G (p.Ser138Ala) | |
14 | g.53951952A>G | CA389785213 | BMP4 | c.271T>C (p.Ser91Pro) c.196T>C (p.Ser66Pro) c.82T>C (p.Ser28Pro) c.412T>C (p.Ser138Pro) | gnomAD v4 |
14 | g.53951952A>T | CA389785214 | BMP4 | c.271T>A (p.Ser91Thr) c.196T>A (p.Ser66Thr) c.82T>A (p.Ser28Thr) c.412T>A (p.Ser138Thr) | |
14 | g.53951952_53951953insGACACCATGATTCCTGGTAACCGAATGCTGATGGTCGTTTTATTATGCCAAGTC | CA2624918607 | BMP4 | c.270_271insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC c.195_196insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC c.81_82insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC c.411_412insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC | gnomAD v4 |
14 | g.53951953C>A | CA389785215 | BMP4 | c.270G>T (p.Gln90His) c.195G>T (p.Gln65His) c.81G>T (p.Gln27His) c.411G>T (p.Gln137His) | |
14 | g.53951953C>G | CA389785216 | BMP4 | c.270G>C (p.Gln90His) c.195G>C (p.Gln65His) c.81G>C (p.Gln27His) c.411G>C (p.Gln137His) | |
14 | g.53951953C>T | CA486658666 | BMP4 | c.270G>A (p.Gln90=) c.195G>A (p.Gln65=) c.81G>A (p.Gln27=) c.411G>A (p.Gln137=) | gnomAD v4 |
14 | g.53951954T>A | CA389785217 | BMP4 | c.269A>T (p.Gln90Leu) c.194A>T (p.Gln65Leu) c.80A>T (p.Gln27Leu) c.410A>T (p.Gln137Leu) | |
14 | g.53951954T>C | CA389785219 | BMP4 | c.269A>G (p.Gln90Arg) c.194A>G (p.Gln65Arg) c.80A>G (p.Gln27Arg) c.410A>G (p.Gln137Arg) | gnomAD v4 |
14 | g.53951954T>G | CA389785218 | BMP4 | c.269A>C (p.Gln90Pro) c.194A>C (p.Gln65Pro) c.80A>C (p.Gln27Pro) c.410A>C (p.Gln137Pro) | |
14 | g.53951955G>A | CA261472781 | BMP4 | c.268C>T (p.Gln90Ter) c.193C>T (p.Gln65Ter) c.79C>T (p.Gln27Ter) c.409C>T (p.Gln137Ter) | dbSNP |
14 | g.53951955G>C | CA389785220 | BMP4 | c.268C>G (p.Gln90Glu) c.193C>G (p.Gln65Glu) c.79C>G (p.Gln27Glu) c.409C>G (p.Gln137Glu) | |
14 | g.53951955G= | CA2137819170 | BMP4 | c.268C= (p.Gln90=) c.193C= (p.Gln65=) c.79C= (p.Gln27=) c.409C= (p.Gln137=) | |
14 | g.53951955G>T | CA389785221 | BMP4 | c.268C>A (p.Gln90Lys) c.193C>A (p.Gln65Lys) c.79C>A (p.Gln27Lys) c.409C>A (p.Gln137Lys) | |
14 | g.53951956A>C | CA486658671 | BMP4 | c.267T>G (p.Leu89=) c.192T>G (p.Leu64=) c.78T>G (p.Leu26=) c.408T>G (p.Leu136=) | |
14 | g.53951956A>G | CA486658672 | BMP4 | c.267T>C (p.Leu89=) c.192T>C (p.Leu64=) c.78T>C (p.Leu26=) c.408T>C (p.Leu136=) | |
14 | g.53951956A>T | CA486658673 | BMP4 | c.267T>A (p.Leu89=) c.192T>A (p.Leu64=) c.78T>A (p.Leu26=) c.408T>A (p.Leu136=) | |
14 | g.53951957del | CA2624918608 | BMP4 | c.267del (p.Gln90SerfsTer28) c.192del (p.Gln65SerfsTer28) c.78del (p.Gln27SerfsTer28) c.267del (p.Gln90SerfsTer?) c.408del (p.Gln137SerfsTer28) | gnomAD v4 |
14 | g.53951957A>C | CA389785222 | BMP4 | c.266T>G (p.Leu89Arg) c.191T>G (p.Leu64Arg) c.77T>G (p.Leu26Arg) c.407T>G (p.Leu136Arg) | |
14 | g.53951957A>G | CA389785223 | BMP4 | c.266T>C (p.Leu89Pro) c.191T>C (p.Leu64Pro) c.77T>C (p.Leu26Pro) c.407T>C (p.Leu136Pro) | |
14 | g.53951957A>T | CA389785224 | BMP4 | c.266T>A (p.Leu89His) c.191T>A (p.Leu64His) c.77T>A (p.Leu26His) c.407T>A (p.Leu136His) |