Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
14 | g.53951958G>A | CA261472782 | BMP4 | c.265C>T (p.Leu89Phe) c.190C>T (p.Leu64Phe) c.76C>T (p.Leu26Phe) c.406C>T (p.Leu136Phe) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951958G>C | CA389785225 | BMP4 | c.265C>G (p.Leu89Val) c.190C>G (p.Leu64Val) c.76C>G (p.Leu26Val) c.406C>G (p.Leu136Val) | |
14 | g.53951958G= | CA2137819172 | BMP4 | c.265C= (p.Leu89=) c.190C= (p.Leu64=) c.76C= (p.Leu26=) c.406C= (p.Leu136=) | |
14 | g.53951958G>T | CA389785226 | BMP4 | c.265C>A (p.Leu89Ile) c.190C>A (p.Leu64Ile) c.76C>A (p.Leu26Ile) c.406C>A (p.Leu136Ile) | |
14 | g.53951959C>A | CA7191800 | BMP4 | c.264G>T (p.Arg88=) c.189G>T (p.Arg63=) c.75G>T (p.Arg25=) c.405G>T (p.Arg135=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53951959C= | CA2137819176 | BMP4 | c.264G= (p.Arg88=) c.189G= (p.Arg63=) c.75G= (p.Arg25=) c.405G= (p.Arg135=) | |
14 | g.53951959C>G | CA486658679 | BMP4 | c.264G>C (p.Arg88=) c.189G>C (p.Arg63=) c.75G>C (p.Arg25=) c.405G>C (p.Arg135=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951959C>T | CA7191801 | BMP4 | c.264G>A (p.Arg88=) c.189G>A (p.Arg63=) c.75G>A (p.Arg25=) c.405G>A (p.Arg135=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951960C>A | CA389785229 | BMP4 | c.263G>T (p.Arg88Leu) c.188G>T (p.Arg63Leu) c.74G>T (p.Arg25Leu) c.404G>T (p.Arg135Leu) | |
14 | g.53951960C>G | CA389785228 | BMP4 | c.263G>C (p.Arg88Pro) c.188G>C (p.Arg63Pro) c.74G>C (p.Arg25Pro) c.404G>C (p.Arg135Pro) | |
14 | g.53951960C>T | CA389785227 | BMP4 | c.263G>A (p.Arg88Gln) c.188G>A (p.Arg63Gln) c.74G>A (p.Arg25Gln) c.404G>A (p.Arg135Gln) | gnomAD v4 |
14 | g.53951961G>A | CA389785231 | BMP4 | c.262C>T (p.Arg88Trp) c.187C>T (p.Arg63Trp) c.73C>T (p.Arg25Trp) c.403C>T (p.Arg135Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951961G>C | CA389785230 | BMP4 | c.262C>G (p.Arg88Gly) c.187C>G (p.Arg63Gly) c.73C>G (p.Arg25Gly) c.403C>G (p.Arg135Gly) | |
14 | g.53951961G= | CA2137819179 | BMP4 | c.262C= (p.Arg88=) c.187C= (p.Arg63=) c.73C= (p.Arg25=) c.403C= (p.Arg135=) | |
14 | g.53951961G>T | CA486658680 | BMP4 | c.262C>A (p.Arg88=) c.187C>A (p.Arg63=) c.73C>A (p.Arg25=) c.403C>A (p.Arg135=) | |
14 | g.53951962G>A | CA486658682 | BMP4 | c.261C>T (p.Tyr87=) c.186C>T (p.Tyr62=) c.72C>T (p.Tyr24=) c.402C>T (p.Tyr134=) | gnomAD v4 |
14 | g.53951962G>C | CA389785232 | BMP4 | c.261C>G (p.Tyr87Ter) c.186C>G (p.Tyr62Ter) c.72C>G (p.Tyr24Ter) c.402C>G (p.Tyr134Ter) | |
14 | g.53951962G>T | CA389785233 | BMP4 | c.261C>A (p.Tyr87Ter) c.186C>A (p.Tyr62Ter) c.72C>A (p.Tyr24Ter) c.402C>A (p.Tyr134Ter) | |
14 | g.53951963T>A | CA7191802 | BMP4 | c.260A>T (p.Tyr87Phe) c.185A>T (p.Tyr62Phe) c.71A>T (p.Tyr24Phe) c.401A>T (p.Tyr134Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.53951963T>C | CA389785234 | BMP4 | c.260A>G (p.Tyr87Cys) c.185A>G (p.Tyr62Cys) c.71A>G (p.Tyr24Cys) c.401A>G (p.Tyr134Cys) | |
14 | g.53951963T>G | CA389785235 | BMP4 | c.260A>C (p.Tyr87Ser) c.185A>C (p.Tyr62Ser) c.71A>C (p.Tyr24Ser) c.401A>C (p.Tyr134Ser) | |
14 | g.53951963T= | CA2137819183 | BMP4 | c.260A= (p.Tyr87=) c.185A= (p.Tyr62=) c.71A= (p.Tyr24=) c.401A= (p.Tyr134=) | |
14 | g.53951964A= | CA2137819187 | BMP4 | c.259T= (p.Tyr87=) c.184T= (p.Tyr62=) c.70T= (p.Tyr24=) c.400T= (p.Tyr134=) | |
14 | g.53951964A>C | CA389785236 | BMP4 | c.259T>G (p.Tyr87Asp) c.184T>G (p.Tyr62Asp) c.70T>G (p.Tyr24Asp) c.400T>G (p.Tyr134Asp) | |
14 | g.53951964A>G | CA389785237 | BMP4 | c.259T>C (p.Tyr87His) c.184T>C (p.Tyr62His) c.70T>C (p.Tyr24His) c.400T>C (p.Tyr134His) | dbSNP |
14 | g.53951964A>T | CA389785238 | BMP4 | c.259T>A (p.Tyr87Asn) c.184T>A (p.Tyr62Asn) c.70T>A (p.Tyr24Asn) c.400T>A (p.Tyr134Asn) | |
14 | g.53951965A>C | CA486658686 | BMP4 | c.258T>G (p.Leu86=) c.183T>G (p.Leu61=) c.69T>G (p.Leu23=) c.399T>G (p.Leu133=) | |
14 | g.53951965A>G | CA486658688 | BMP4 | c.258T>C (p.Leu86=) c.183T>C (p.Leu61=) c.69T>C (p.Leu23=) c.399T>C (p.Leu133=) | |
14 | g.53951965A>T | CA486658687 | BMP4 | c.258T>A (p.Leu86=) c.183T>A (p.Leu61=) c.69T>A (p.Leu23=) c.399T>A (p.Leu133=) | |
14 | g.53951966A>C | CA389785239 | BMP4 | c.257T>G (p.Leu86Arg) c.182T>G (p.Leu61Arg) c.68T>G (p.Leu23Arg) c.398T>G (p.Leu133Arg) | |
14 | g.53951966A>G | CA389785240 | BMP4 | c.257T>C (p.Leu86Pro) c.182T>C (p.Leu61Pro) c.68T>C (p.Leu23Pro) c.398T>C (p.Leu133Pro) | |
14 | g.53951966A>T | CA389785241 | BMP4 | c.257T>A (p.Leu86His) c.182T>A (p.Leu61His) c.68T>A (p.Leu23His) c.398T>A (p.Leu133His) | |
14 | g.53951967G>A | CA389785242 | BMP4 | c.256C>T (p.Leu86Phe) c.181C>T (p.Leu61Phe) c.67C>T (p.Leu23Phe) c.397C>T (p.Leu133Phe) | |
14 | g.53951967G>C | CA389785243 | BMP4 | c.256C>G (p.Leu86Val) c.181C>G (p.Leu61Val) c.67C>G (p.Leu23Val) c.397C>G (p.Leu133Val) | |
14 | g.53951967G= | CA2137819192 | BMP4 | c.256C= (p.Leu86=) c.181C= (p.Leu61=) c.67C= (p.Leu23=) c.397C= (p.Leu133=) | |
14 | g.53951967G>T | CA7191803 | BMP4 | c.256C>A (p.Leu86Ile) c.181C>A (p.Leu61Ile) c.67C>A (p.Leu23Ile) c.397C>A (p.Leu133Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951968A>C | CA389785244 | BMP4 | c.255T>G (p.Asp85Glu) c.180T>G (p.Asp60Glu) c.66T>G (p.Asp22Glu) c.396T>G (p.Asp132Glu) | |
14 | g.53951968A>G | CA486658693 | BMP4 | c.255T>C (p.Asp85=) c.180T>C (p.Asp60=) c.66T>C (p.Asp22=) c.396T>C (p.Asp132=) | gnomAD v4 |
14 | g.53951968A>T | CA389785245 | BMP4 | c.255T>A (p.Asp85Glu) c.180T>A (p.Asp60Glu) c.66T>A (p.Asp22Glu) c.396T>A (p.Asp132Glu) | |
14 | g.53951969T>A | CA389785246 | BMP4 | c.254A>T (p.Asp85Val) c.179A>T (p.Asp60Val) c.65A>T (p.Asp22Val) c.395A>T (p.Asp132Val) | dbSNP |
14 | g.53951969T>C | CA389785247 | BMP4 | c.254A>G (p.Asp85Gly) c.179A>G (p.Asp60Gly) c.65A>G (p.Asp22Gly) c.395A>G (p.Asp132Gly) | gnomAD v4 |
14 | g.53951969T>G | CA389785248 | BMP4 | c.254A>C (p.Asp85Ala) c.179A>C (p.Asp60Ala) c.65A>C (p.Asp22Ala) c.395A>C (p.Asp132Ala) | |
14 | g.53951970C>A | CA389785251 | BMP4 | c.253G>T (p.Asp85Tyr) c.178G>T (p.Asp60Tyr) c.64G>T (p.Asp22Tyr) c.394G>T (p.Asp132Tyr) | gnomAD v4 |
14 | g.53951970C>G | CA389785249 | BMP4 | c.253G>C (p.Asp85His) c.178G>C (p.Asp60His) c.64G>C (p.Asp22His) c.394G>C (p.Asp132His) | |
14 | g.53951970C>T | CA389785250 | BMP4 | c.253G>A (p.Asp85Asn) c.178G>A (p.Asp60Asn) c.64G>A (p.Asp22Asn) c.394G>A (p.Asp132Asn) | |
14 | g.53951971C>A | CA486658696 | BMP4 | c.252G>T (p.Arg84=) c.177G>T (p.Arg59=) c.63G>T (p.Arg21=) c.393G>T (p.Arg131=) | gnomAD v4 |
14 | g.53951971C= | CA2137819197 | BMP4 | c.252G= (p.Arg84=) c.177G= (p.Arg59=) c.63G= (p.Arg21=) c.393G= (p.Arg131=) | |
14 | g.53951971C>G | CA486658698 | BMP4 | c.252G>C (p.Arg84=) c.177G>C (p.Arg59=) c.63G>C (p.Arg21=) c.393G>C (p.Arg131=) | |
14 | g.53951971C>T | CA7191804 | BMP4 | c.252G>A (p.Arg84=) c.177G>A (p.Arg59=) c.63G>A (p.Arg21=) c.393G>A (p.Arg131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951972C>A | CA389785252 | BMP4 | c.251G>T (p.Arg84Leu) c.176G>T (p.Arg59Leu) c.62G>T (p.Arg21Leu) c.392G>T (p.Arg131Leu) | COSMIC |
14 | g.53951972C>G | CA389785253 | BMP4 | c.251G>C (p.Arg84Pro) c.176G>C (p.Arg59Pro) c.62G>C (p.Arg21Pro) c.392G>C (p.Arg131Pro) | |
14 | g.53951972C>T | CA389785254 | BMP4 | c.251G>A (p.Arg84Gln) c.176G>A (p.Arg59Gln) c.62G>A (p.Arg21Gln) c.392G>A (p.Arg131Gln) | ClinVar |
14 | g.53951973G>A | CA389785255 | BMP4 | c.250C>T (p.Arg84Trp) c.175C>T (p.Arg59Trp) c.61C>T (p.Arg21Trp) c.391C>T (p.Arg131Trp) | ClinVar dbSNP gnomAD v4 |
14 | g.53951973G>C | CA389785256 | BMP4 | c.250C>G (p.Arg84Gly) c.175C>G (p.Arg59Gly) c.61C>G (p.Arg21Gly) c.391C>G (p.Arg131Gly) | |
14 | g.53951973G= | CA2137819203 | BMP4 | c.250C= (p.Arg84=) c.175C= (p.Arg59=) c.61C= (p.Arg21=) c.391C= (p.Arg131=) | |
14 | g.53951973G>T | CA486658700 | BMP4 | c.250C>A (p.Arg84=) c.175C>A (p.Arg59=) c.61C>A (p.Arg21=) c.391C>A (p.Arg131=) | dbSNP gnomAD v4 |
14 | g.53951974C>A | CA389785258 | BMP4 | c.249G>T (p.Met83Ile) c.174G>T (p.Met58Ile) c.60G>T (p.Met20Ile) c.390G>T (p.Met130Ile) | |
14 | g.53951974C>G | CA389785259 | BMP4 | c.249G>C (p.Met83Ile) c.174G>C (p.Met58Ile) c.60G>C (p.Met20Ile) c.390G>C (p.Met130Ile) | |
14 | g.53951974C>T | CA389785257 | BMP4 | c.249G>A (p.Met83Ile) c.174G>A (p.Met58Ile) c.60G>A (p.Met20Ile) c.390G>A (p.Met130Ile) | |
14 | g.53951974_53951991dup | CA614278115 | BMP4 | c.232_249dup (p.Met83_Arg84insValIleProAspTyrMet) c.157_174dup (p.Met58_Arg59insValIleProAspTyrMet) c.43_60dup (p.Met20_Arg21insValIleProAspTyrMet) c.373_390dup (p.Met130_Arg131insValIleProAspTyrMet) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951975A>C | CA389785260 | BMP4 | c.248T>G (p.Met83Arg) c.173T>G (p.Met58Arg) c.59T>G (p.Met20Arg) c.389T>G (p.Met130Arg) | |
14 | g.53951975A>G | CA389785261 | BMP4 | c.248T>C (p.Met83Thr) c.173T>C (p.Met58Thr) c.59T>C (p.Met20Thr) c.389T>C (p.Met130Thr) | |
14 | g.53951975A>T | CA389785262 | BMP4 | c.248T>A (p.Met83Lys) c.173T>A (p.Met58Lys) c.59T>A (p.Met20Lys) c.389T>A (p.Met130Lys) | |
14 | g.53951976T>A | CA389785263 | BMP4 | c.247A>T (p.Met83Leu) c.172A>T (p.Met58Leu) c.58A>T (p.Met20Leu) c.388A>T (p.Met130Leu) | |
14 | g.53951976T>C | CA389785264 | BMP4 | c.247A>G (p.Met83Val) c.172A>G (p.Met58Val) c.58A>G (p.Met20Val) c.388A>G (p.Met130Val) | gnomAD v4 |
14 | g.53951976T>G | CA389785265 | BMP4 | c.247A>C (p.Met83Leu) c.172A>C (p.Met58Leu) c.58A>C (p.Met20Leu) c.388A>C (p.Met130Leu) | dbSNP gnomAD v4 |
14 | g.53951976T= | CA2137819209 | BMP4 | c.247A= (p.Met83=) c.172A= (p.Met58=) c.58A= (p.Met20=) c.388A= (p.Met130=) | |
14 | g.53951977G>A | CA486658701 | BMP4 | c.246C>T (p.Tyr82=) c.171C>T (p.Tyr57=) c.57C>T (p.Tyr19=) c.387C>T (p.Tyr129=) | |
14 | g.53951977G>C | CA389785266 | BMP4 | c.246C>G (p.Tyr82Ter) c.171C>G (p.Tyr57Ter) c.57C>G (p.Tyr19Ter) c.387C>G (p.Tyr129Ter) | |
14 | g.53951977G>T | CA389785267 | BMP4 | c.246C>A (p.Tyr82Ter) c.171C>A (p.Tyr57Ter) c.57C>A (p.Tyr19Ter) c.387C>A (p.Tyr129Ter) | |
14 | g.53951978T>A | CA389785268 | BMP4 | c.245A>T (p.Tyr82Phe) c.170A>T (p.Tyr57Phe) c.56A>T (p.Tyr19Phe) c.386A>T (p.Tyr129Phe) | |
14 | g.53951978T>C | CA389785269 | BMP4 | c.245A>G (p.Tyr82Cys) c.170A>G (p.Tyr57Cys) c.56A>G (p.Tyr19Cys) c.386A>G (p.Tyr129Cys) | |
14 | g.53951978T>G | CA389785270 | BMP4 | c.245A>C (p.Tyr82Ser) c.170A>C (p.Tyr57Ser) c.56A>C (p.Tyr19Ser) c.386A>C (p.Tyr129Ser) | |
14 | g.53951979A= | CA2137819213 | BMP4 | c.244T= (p.Tyr82=) c.169T= (p.Tyr57=) c.55T= (p.Tyr19=) c.385T= (p.Tyr129=) | |
14 | g.53951979A>C | CA389785271 | BMP4 | c.244T>G (p.Tyr82Asp) c.169T>G (p.Tyr57Asp) c.55T>G (p.Tyr19Asp) c.385T>G (p.Tyr129Asp) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951979A>G | CA389785272 | BMP4 | c.244T>C (p.Tyr82His) c.169T>C (p.Tyr57His) c.55T>C (p.Tyr19His) c.385T>C (p.Tyr129His) | dbSNP gnomAD v2 |
14 | g.53951979A>T | CA389785273 | BMP4 | c.244T>A (p.Tyr82Asn) c.169T>A (p.Tyr57Asn) c.55T>A (p.Tyr19Asn) c.385T>A (p.Tyr129Asn) | |
14 | g.53951980G>A | CA486658704 | BMP4 | c.243C>T (p.Asp81=) c.168C>T (p.Asp56=) c.54C>T (p.Asp18=) c.384C>T (p.Asp128=) | |
14 | g.53951980G>C | CA389785275 | BMP4 | c.243C>G (p.Asp81Glu) c.168C>G (p.Asp56Glu) c.54C>G (p.Asp18Glu) c.384C>G (p.Asp128Glu) | |
14 | g.53951980G>T | CA389785274 | BMP4 | c.243C>A (p.Asp81Glu) c.168C>A (p.Asp56Glu) c.54C>A (p.Asp18Glu) c.384C>A (p.Asp128Glu) | |
14 | g.53951981T>A | CA389785276 | BMP4 | c.242A>T (p.Asp81Val) c.167A>T (p.Asp56Val) c.53A>T (p.Asp18Val) c.383A>T (p.Asp128Val) | |
14 | g.53951981T>C | CA389785277 | BMP4 | c.242A>G (p.Asp81Gly) c.167A>G (p.Asp56Gly) c.53A>G (p.Asp18Gly) c.383A>G (p.Asp128Gly) | |
14 | g.53951981T>G | CA389785278 | BMP4 | c.242A>C (p.Asp81Ala) c.167A>C (p.Asp56Ala) c.53A>C (p.Asp18Ala) c.383A>C (p.Asp128Ala) | |
14 | g.53951982C>A | CA389785279 | BMP4 | c.241G>T (p.Asp81Tyr) c.166G>T (p.Asp56Tyr) c.52G>T (p.Asp18Tyr) c.382G>T (p.Asp128Tyr) | gnomAD v4 |
14 | g.53951982C>G | CA389785280 | BMP4 | c.241G>C (p.Asp81His) c.166G>C (p.Asp56His) c.52G>C (p.Asp18His) c.382G>C (p.Asp128His) | |
14 | g.53951982C>T | CA389785281 | BMP4 | c.241G>A (p.Asp81Asn) c.166G>A (p.Asp56Asn) c.52G>A (p.Asp18Asn) c.382G>A (p.Asp128Asn) | |
14 | g.53951983C>A | CA486658706 | BMP4 | c.240G>T (p.Pro80=) c.165G>T (p.Pro55=) c.51G>T (p.Pro17=) c.381G>T (p.Pro127=) | ClinVar dbSNP gnomAD v4 |
14 | g.53951983C= | CA2137819218 | BMP4 | c.240G= (p.Pro80=) c.165G= (p.Pro55=) c.51G= (p.Pro17=) c.381G= (p.Pro127=) | |
14 | g.53951983C>G | CA486658708 | BMP4 | c.240G>C (p.Pro80=) c.165G>C (p.Pro55=) c.51G>C (p.Pro17=) c.381G>C (p.Pro127=) | |
14 | g.53951983C>T | CA7191805 | BMP4 | c.240G>A (p.Pro80=) c.165G>A (p.Pro55=) c.51G>A (p.Pro17=) c.381G>A (p.Pro127=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951984G>A | CA261472783 | BMP4 | c.239C>T (p.Pro80Leu) c.164C>T (p.Pro55Leu) c.50C>T (p.Pro17Leu) c.380C>T (p.Pro127Leu) | dbSNP |
14 | g.53951984G>C | CA389785283 | BMP4 | c.239C>G (p.Pro80Arg) c.164C>G (p.Pro55Arg) c.50C>G (p.Pro17Arg) c.380C>G (p.Pro127Arg) | |
14 | g.53951984G= | CA2137819222 | BMP4 | c.239C= (p.Pro80=) c.164C= (p.Pro55=) c.50C= (p.Pro17=) c.380C= (p.Pro127=) | |
14 | g.53951984G>T | CA389785282 | BMP4 | c.239C>A (p.Pro80Gln) c.164C>A (p.Pro55Gln) c.50C>A (p.Pro17Gln) c.380C>A (p.Pro127Gln) | |
14 | g.53951985G>A | CA389785284 | BMP4 | c.238C>T (p.Pro80Ser) c.163C>T (p.Pro55Ser) c.49C>T (p.Pro17Ser) c.379C>T (p.Pro127Ser) | |
14 | g.53951985G>C | CA389785285 | BMP4 | c.238C>G (p.Pro80Ala) c.163C>G (p.Pro55Ala) c.49C>G (p.Pro17Ala) c.379C>G (p.Pro127Ala) | |
14 | g.53951985G>T | CA389785286 | BMP4 | c.238C>A (p.Pro80Thr) c.163C>A (p.Pro55Thr) c.49C>A (p.Pro17Thr) c.379C>A (p.Pro127Thr) | |
14 | g.53951986A>C | CA389785287 | BMP4 | c.237T>G (p.Ile79Met) c.162T>G (p.Ile54Met) c.48T>G (p.Ile16Met) c.378T>G (p.Ile126Met) | |
14 | g.53951986A>G | CA486658712 | BMP4 | c.237T>C (p.Ile79=) c.162T>C (p.Ile54=) c.48T>C (p.Ile16=) c.378T>C (p.Ile126=) | gnomAD v4 |
14 | g.53951986A>T | CA486658711 | BMP4 | c.237T>A (p.Ile79=) c.162T>A (p.Ile54=) c.48T>A (p.Ile16=) c.378T>A (p.Ile126=) | gnomAD v4 |
14 | g.53951987A>C | CA389785288 | BMP4 | c.236T>G (p.Ile79Ser) c.161T>G (p.Ile54Ser) c.47T>G (p.Ile16Ser) c.377T>G (p.Ile126Ser) | |
14 | g.53951987A>G | CA389785290 | BMP4 | c.236T>C (p.Ile79Thr) c.161T>C (p.Ile54Thr) c.47T>C (p.Ile16Thr) c.377T>C (p.Ile126Thr) | |
14 | g.53951987A>T | CA389785289 | BMP4 | c.236T>A (p.Ile79Asn) c.161T>A (p.Ile54Asn) c.47T>A (p.Ile16Asn) c.377T>A (p.Ile126Asn) | |
14 | g.53951988T>A | CA389785291 | BMP4 | c.235A>T (p.Ile79Phe) c.160A>T (p.Ile54Phe) c.46A>T (p.Ile16Phe) c.376A>T (p.Ile126Phe) | |
14 | g.53951988T>C | CA389785292 | BMP4 | c.235A>G (p.Ile79Val) c.160A>G (p.Ile54Val) c.46A>G (p.Ile16Val) c.376A>G (p.Ile126Val) | dbSNP |
14 | g.53951988T>G | CA389785293 | BMP4 | c.235A>C (p.Ile79Leu) c.160A>C (p.Ile54Leu) c.46A>C (p.Ile16Leu) c.376A>C (p.Ile126Leu) | |
14 | g.53951988T= | CA2137819225 | BMP4 | c.235A= (p.Ile79=) c.160A= (p.Ile54=) c.46A= (p.Ile16=) c.376A= (p.Ile126=) | |
14 | g.53951989G>A | CA486658719 | BMP4 | c.234C>T (p.Val78=) c.159C>T (p.Val53=) c.45C>T (p.Val15=) c.375C>T (p.Val125=) | |
14 | g.53951989G>C | CA486658720 | BMP4 | c.234C>G (p.Val78=) c.159C>G (p.Val53=) c.45C>G (p.Val15=) c.375C>G (p.Val125=) | |
14 | g.53951989G>T | CA486658721 | BMP4 | c.234C>A (p.Val78=) c.159C>A (p.Val53=) c.45C>A (p.Val15=) c.375C>A (p.Val125=) | |
14 | g.53951990A>C | CA389785294 | BMP4 | c.233T>G (p.Val78Gly) c.158T>G (p.Val53Gly) c.44T>G (p.Val15Gly) c.374T>G (p.Val125Gly) | |
14 | g.53951990A>G | CA389785295 | BMP4 | c.233T>C (p.Val78Ala) c.158T>C (p.Val53Ala) c.44T>C (p.Val15Ala) c.374T>C (p.Val125Ala) | gnomAD v4 |
14 | g.53951990A>T | CA389785296 | BMP4 | c.233T>A (p.Val78Asp) c.158T>A (p.Val53Asp) c.44T>A (p.Val15Asp) c.374T>A (p.Val125Asp) | |
14 | g.53951991C>A | CA389785297 | BMP4 | c.232G>T (p.Val78Phe) c.157G>T (p.Val53Phe) c.43G>T (p.Val15Phe) c.373G>T (p.Val125Phe) | |
14 | g.53951991C>G | CA389785298 | BMP4 | c.232G>C (p.Val78Leu) c.157G>C (p.Val53Leu) c.43G>C (p.Val15Leu) c.373G>C (p.Val125Leu) | gnomAD v3 gnomAD v4 |
14 | g.53951991C>T | CA389785299 | BMP4 | c.232G>A (p.Val78Ile) c.157G>A (p.Val53Ile) c.43G>A (p.Val15Ile) c.373G>A (p.Val125Ile) | dbSNP gnomAD v4 COSMIC |
14 | g.53951992G>A | CA486658724 | BMP4 | c.231C>T (p.Ala77=) c.156C>T (p.Ala52=) c.42C>T (p.Ala14=) c.372C>T (p.Ala124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951992G>C | CA486658727 | BMP4 | c.231C>G (p.Ala77=) c.156C>G (p.Ala52=) c.42C>G (p.Ala14=) c.372C>G (p.Ala124=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53951992G= | CA2137819227 | BMP4 | c.231C= (p.Ala77=) c.156C= (p.Ala52=) c.42C= (p.Ala14=) c.372C= (p.Ala124=) | |
14 | g.53951992G>T | CA486658725 | BMP4 | c.231C>A (p.Ala77=) c.156C>A (p.Ala52=) c.42C>A (p.Ala14=) c.372C>A (p.Ala124=) | dbSNP |
14 | g.53951993G>A | CA389785300 | BMP4 | c.230C>T (p.Ala77Val) c.155C>T (p.Ala52Val) c.41C>T (p.Ala14Val) c.371C>T (p.Ala124Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.53951993G>C | CA389785301 | BMP4 | c.230C>G (p.Ala77Gly) c.155C>G (p.Ala52Gly) c.41C>G (p.Ala14Gly) c.371C>G (p.Ala124Gly) | |
14 | g.53951993G= | CA2137819228 | BMP4 | c.230C= (p.Ala77=) c.155C= (p.Ala52=) c.41C= (p.Ala14=) c.371C= (p.Ala124=) | |
14 | g.53951993G>T | CA389785302 | BMP4 | c.230C>A (p.Ala77Asp) c.155C>A (p.Ala52Asp) c.41C>A (p.Ala14Asp) c.371C>A (p.Ala124Asp) | |
14 | g.53951994C>A | CA389785305 | BMP4 | c.229G>T (p.Ala77Ser) c.154G>T (p.Ala52Ser) c.40G>T (p.Ala14Ser) c.370G>T (p.Ala124Ser) | |
14 | g.53951994C>G | CA389785304 | BMP4 | c.229G>C (p.Ala77Pro) c.154G>C (p.Ala52Pro) c.40G>C (p.Ala14Pro) c.370G>C (p.Ala124Pro) | |
14 | g.53951994C>T | CA389785303 | BMP4 | c.229G>A (p.Ala77Thr) c.154G>A (p.Ala52Thr) c.40G>A (p.Ala14Thr) c.370G>A (p.Ala124Thr) | gnomAD v4 |
14 | g.53951995A= | CA2137819232 | BMP4 | c.228T= (p.Ser76=) c.153T= (p.Ser51=) c.39T= (p.Ser13=) c.369T= (p.Ser123=) | |
14 | g.53951995A>C | CA389785306 | BMP4 | c.228T>G (p.Ser76Arg) c.153T>G (p.Ser51Arg) c.39T>G (p.Ser13Arg) c.369T>G (p.Ser123Arg) | |
14 | g.53951995A>G | CA486658731 | BMP4 | c.228T>C (p.Ser76=) c.153T>C (p.Ser51=) c.39T>C (p.Ser13=) c.369T>C (p.Ser123=) | |
14 | g.53951995A>T | CA7191806 | BMP4 | c.228T>A (p.Ser76Arg) c.153T>A (p.Ser51Arg) c.39T>A (p.Ser13Arg) c.369T>A (p.Ser123Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951996C>A | CA389785307 | BMP4 | c.227G>T (p.Ser76Ile) c.152G>T (p.Ser51Ile) c.38G>T (p.Ser13Ile) c.368G>T (p.Ser123Ile) | gnomAD v4 |
14 | g.53951996C= | CA2137819240 | BMP4 | c.227G= (p.Ser76=) c.152G= (p.Ser51=) c.38G= (p.Ser13=) c.368G= (p.Ser123=) | |
14 | g.53951996C>G | CA389785308 | BMP4 | c.227G>C (p.Ser76Thr) c.152G>C (p.Ser51Thr) c.38G>C (p.Ser13Thr) c.368G>C (p.Ser123Thr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951996C>T | CA389785309 | BMP4 | c.227G>A (p.Ser76Asn) c.152G>A (p.Ser51Asn) c.38G>A (p.Ser13Asn) c.368G>A (p.Ser123Asn) | gnomAD v4 |
14 | g.53951998_53951999del | CA2580613688 | BMP4 | c.226_227del (p.Ser76CysfsTer29) c.151_152del (p.Ser51CysfsTer29) c.37_38del (p.Ser13CysfsTer29) c.367_368del (p.Ser123CysfsTer29) | ClinVar dbSNP |
14 | g.53951997T>A | CA389785310 | BMP4 | c.226A>T (p.Ser76Cys) c.151A>T (p.Ser51Cys) c.37A>T (p.Ser13Cys) c.367A>T (p.Ser123Cys) | |
14 | g.53951997T>C | CA389785311 | BMP4 | c.226A>G (p.Ser76Gly) c.151A>G (p.Ser51Gly) c.37A>G (p.Ser13Gly) c.367A>G (p.Ser123Gly) | gnomAD v4 |
14 | g.53951997T>G | CA389785312 | BMP4 | c.226A>C (p.Ser76Arg) c.151A>C (p.Ser51Arg) c.37A>C (p.Ser13Arg) c.367A>C (p.Ser123Arg) | |
14 | g.53951998C>A | CA389785313 | BMP4 | c.225G>T (p.Lys75Asn) c.150G>T (p.Lys50Asn) c.36G>T (p.Lys12Asn) c.366G>T (p.Lys122Asn) | |
14 | g.53951998C= | CA2137819243 | BMP4 | c.225G= (p.Lys75=) c.150G= (p.Lys50=) c.36G= (p.Lys12=) c.366G= (p.Lys122=) | |
14 | g.53951998C>G | CA389785314 | BMP4 | c.225G>C (p.Lys75Asn) c.150G>C (p.Lys50Asn) c.36G>C (p.Lys12Asn) c.366G>C (p.Lys122Asn) | |
14 | g.53951998C>T | CA486658738 | BMP4 | c.225G>A (p.Lys75=) c.150G>A (p.Lys50=) c.36G>A (p.Lys12=) c.366G>A (p.Lys122=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53951999T>A | CA389785315 | BMP4 | c.224A>T (p.Lys75Met) c.149A>T (p.Lys50Met) c.35A>T (p.Lys12Met) c.365A>T (p.Lys122Met) | |
14 | g.53951999T>C | CA7191807 | BMP4 | c.224A>G (p.Lys75Arg) c.149A>G (p.Lys50Arg) c.35A>G (p.Lys12Arg) c.365A>G (p.Lys122Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.53951999T>G | CA389785316 | BMP4 | c.224A>C (p.Lys75Thr) c.149A>C (p.Lys50Thr) c.35A>C (p.Lys12Thr) c.365A>C (p.Lys122Thr) | |
14 | g.53951999T= | CA2137819247 | BMP4 | c.224A= (p.Lys75=) c.149A= (p.Lys50=) c.35A= (p.Lys12=) c.365A= (p.Lys122=) | |
14 | g.53952000T>A | CA389785319 | BMP4 | c.223A>T (p.Lys75Ter) c.148A>T (p.Lys50Ter) c.34A>T (p.Lys12Ter) c.364A>T (p.Lys122Ter) | |
14 | g.53952000T>C | CA389785318 | BMP4 | c.223A>G (p.Lys75Glu) c.148A>G (p.Lys50Glu) c.34A>G (p.Lys12Glu) c.364A>G (p.Lys122Glu) | gnomAD v4 |
14 | g.53952000T>G | CA389785317 | BMP4 | c.223A>C (p.Lys75Gln) c.148A>C (p.Lys50Gln) c.34A>C (p.Lys12Gln) c.364A>C (p.Lys122Gln) | |
14 | g.53952001G>A | CA486658746 | BMP4 | c.222C>T (p.Ser74=) c.147C>T (p.Ser49=) c.33C>T (p.Ser11=) c.363C>T (p.Ser121=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.53952001G>C | CA389785321 | BMP4 | c.222C>G (p.Ser74Arg) c.147C>G (p.Ser49Arg) c.33C>G (p.Ser11Arg) c.363C>G (p.Ser121Arg) | |
14 | g.53952001G= | CA2137819253 | BMP4 | c.222C= (p.Ser74=) c.147C= (p.Ser49=) c.33C= (p.Ser11=) c.363C= (p.Ser121=) | |
14 | g.53952001G>T | CA389785320 | BMP4 | c.222C>A (p.Ser74Arg) c.147C>A (p.Ser49Arg) c.33C>A (p.Ser11Arg) c.363C>A (p.Ser121Arg) | |
14 | g.53952002C>A | CA389785322 | BMP4 | c.221G>T (p.Ser74Ile) c.146G>T (p.Ser49Ile) c.32G>T (p.Ser11Ile) c.362G>T (p.Ser121Ile) | |
14 | g.53952002C= | CA2137819257 | BMP4 | c.221G= (p.Ser74=) c.146G= (p.Ser49=) c.32G= (p.Ser11=) c.362G= (p.Ser121=) | |
14 | g.53952002C>G | CA389785323 | BMP4 | c.221G>C (p.Ser74Thr) c.146G>C (p.Ser49Thr) c.32G>C (p.Ser11Thr) c.362G>C (p.Ser121Thr) | dbSNP |
14 | g.53952002C>T | CA389785324 | BMP4 | c.221G>A (p.Ser74Asn) c.146G>A (p.Ser49Asn) c.32G>A (p.Ser11Asn) c.362G>A (p.Ser121Asn) | COSMIC |
14 | g.53952003T>A | CA389785325 | BMP4 | c.220A>T (p.Ser74Cys) c.145A>T (p.Ser49Cys) c.31A>T (p.Ser11Cys) c.361A>T (p.Ser121Cys) | |
14 | g.53952003T>C | CA261472784 | BMP4 | c.220A>G (p.Ser74Gly) c.145A>G (p.Ser49Gly) c.31A>G (p.Ser11Gly) c.361A>G (p.Ser121Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.53952003T>G | CA389785326 | BMP4 | c.220A>C (p.Ser74Arg) c.145A>C (p.Ser49Arg) c.31A>C (p.Ser11Arg) c.361A>C (p.Ser121Arg) | |
14 | g.53952003T= | CA2137819264 | BMP4 | c.220A= (p.Ser74=) c.145A= (p.Ser49=) c.31A= (p.Ser11=) c.361A= (p.Ser121=) |