| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.53950804A= | CA2137817830 | BMP4 | c.455T= (p.Val152=) c.313T= (p.Ter105=) c.266T= (p.Val89=) c.596T= (p.Val199=) | |
| 14 | g.53950804A>C | CA389784659 | BMP4 | c.455T>G (p.Val152Gly) c.313T>G (p.Ter105Gly) c.266T>G (p.Val89Gly) c.596T>G (p.Val199Gly) | |
| 14 | g.53950804A>G | CA202736 | BMP4 | c.455T>C (p.Val152Ala) c.313T>C (p.Ter105Arg) c.266T>C (p.Val89Ala) c.596T>C (p.Val199Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950804A>T | CA389784660 | BMP4 | c.455T>A (p.Val152Glu) c.313T>A (p.Ter105Arg) c.266T>A (p.Val89Glu) c.596T>A (p.Val199Glu) | gnomAD v4 |
| 14 | g.53950804_53950805insAGAGCCGAAGCTCTGCAGAGGAGATCG | CA963264511 | BMP4 | c.454_455insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Val152delinsAlaIleSerSerAlaGluLeuArgLeuLeu) c.312_313insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Arg104_Arg105insArgSerProLeuGlnSerPheGlySer) c.265_266insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Val89delinsAlaIleSerSerAlaGluLeuArgLeuLeu) c.595_596insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Val199delinsAlaIleSerSerAlaGluLeuArgLeuLeu) | gnomAD v3 gnomAD v4 |
| 14 | g.53950805C>A | CA389784661 | BMP4 | c.454G>T (p.Val152Leu) c.312G>T (p.Arg104Ser) c.265G>T (p.Val89Leu) c.595G>T (p.Val199Leu) | dbSNP |
| 14 | g.53950805C= | CA2137817836 | BMP4 | c.454G= (p.Val152=) c.312G= (p.Arg104=) c.265G= (p.Val89=) c.595G= (p.Val199=) | |
| 14 | g.53950805C>G | CA389784662 | BMP4 | c.454G>C (p.Val152Leu) c.312G>C (p.Arg104Ser) c.265G>C (p.Val89Leu) c.595G>C (p.Val199Leu) | |
| 14 | g.53950805C>T | CA389784663 | BMP4 | c.454G>A (p.Val152Met) c.312G>A (p.Arg104=) c.265G>A (p.Val89Met) c.595G>A (p.Val199Met) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53950806C>A | CA389784664 | BMP4 | c.453G>T (p.Glu151Asp) c.311G>T (p.Arg104Met) c.264G>T (p.Glu88Asp) c.594G>T (p.Glu198Asp) | |
| 14 | g.53950806C>G | CA389784665 | BMP4 | c.453G>C (p.Glu151Asp) c.311G>C (p.Arg104Thr) c.264G>C (p.Glu88Asp) c.594G>C (p.Glu198Asp) | |
| 14 | g.53950806C>T | CA389784666 | BMP4 | c.453G>A (p.Glu151=) c.311G>A (p.Arg104Lys) c.264G>A (p.Glu88=) c.594G>A (p.Glu198=) | |
| 14 | g.53950807T>A | CA389784667 | BMP4 | c.452A>T (p.Glu151Val) c.310A>T (p.Arg104Trp) c.263A>T (p.Glu88Val) c.593A>T (p.Glu198Val) | |
| 14 | g.53950807T>C | CA389784668 | BMP4 | c.452A>G (p.Glu151Gly) c.310A>G (p.Arg104Gly) c.263A>G (p.Glu88Gly) c.593A>G (p.Glu198Gly) | |
| 14 | g.53950807T>G | CA389784669 | BMP4 | c.452A>C (p.Glu151Ala) c.310A>C (p.Arg104=) c.263A>C (p.Glu88Ala) c.593A>C (p.Glu198Ala) | |
| 14 | g.53950808C>A | CA389784670 | BMP4 | c.451G>T (p.Glu151Ter) c.309G>T (p.Thr103=) c.262G>T (p.Glu88Ter) c.592G>T (p.Glu198Ter) | |
| 14 | g.53950808C>G | CA389784671 | BMP4 | c.451G>C (p.Glu151Gln) c.309G>C (p.Thr103=) c.262G>C (p.Glu88Gln) c.592G>C (p.Glu198Gln) | gnomAD v4 |
| 14 | g.53950808C>T | CA389784672 | BMP4 | c.451G>A (p.Glu151Lys) c.309G>A (p.Thr103=) c.262G>A (p.Glu88Lys) c.592G>A (p.Glu198Lys) | ClinVar COSMIC |
| 14 | g.53950809G>A | CA7191733 | BMP4 | c.450C>T (p.Asn150=) c.308C>T (p.Thr103Met) c.261C>T (p.Asn87=) c.591C>T (p.Asn197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.53950809G>C | CA7191734 | BMP4 | c.450C>G (p.Asn150Lys) c.308C>G (p.Thr103Arg) c.261C>G (p.Asn87Lys) c.591C>G (p.Asn197Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.53950809G= | CA2137817848 | BMP4 | c.450C= (p.Asn150=) c.308C= (p.Thr103=) c.261C= (p.Asn87=) c.591C= (p.Asn197=) | |
| 14 | g.53950809G>T | CA389784673 | BMP4 | c.450C>A (p.Asn150Lys) c.308C>A (p.Thr103Lys) c.261C>A (p.Asn87Lys) c.591C>A (p.Asn197Lys) | |
| 14 | g.53950810T>A | CA389784674 | BMP4 | c.449A>T (p.Asn150Ile) c.307A>T (p.Thr103Ser) c.260A>T (p.Asn87Ile) c.590A>T (p.Asn197Ile) | |
| 14 | g.53950810T>C | CA389784676 | BMP4 | c.449A>G (p.Asn150Ser) c.307A>G (p.Thr103Ala) c.260A>G (p.Asn87Ser) c.590A>G (p.Asn197Ser) | |
| 14 | g.53950810T>G | CA389784675 | BMP4 | c.449A>C (p.Asn150Thr) c.307A>C (p.Thr103Pro) c.260A>C (p.Asn87Thr) c.590A>C (p.Asn197Thr) | |
| 14 | g.53950811T>A | CA389784677 | BMP4 | c.448A>T (p.Asn150Tyr) c.306A>T (p.Arg102Ser) c.259A>T (p.Asn87Tyr) c.589A>T (p.Asn197Tyr) | |
| 14 | g.53950811T>C | CA389784679 | BMP4 | c.448A>G (p.Asn150Asp) c.306A>G (p.Arg102=) c.259A>G (p.Asn87Asp) c.589A>G (p.Asn197Asp) | |
| 14 | g.53950811T>G | CA389784678 | BMP4 | c.448A>C (p.Asn150His) c.306A>C (p.Arg102Ser) c.259A>C (p.Asn87His) c.589A>C (p.Asn197His) | |
| 14 | g.53950812C>A | CA389784680 | BMP4 | c.447G>T (p.Glu149Asp) c.305G>T (p.Arg102Ile) c.258G>T (p.Glu86Asp) c.588G>T (p.Glu196Asp) | gnomAD v4 |
| 14 | g.53950812C= | CA2137817855 | BMP4 | c.447G= (p.Glu149=) c.305G= (p.Arg102=) c.258G= (p.Glu86=) c.588G= (p.Glu196=) | |
| 14 | g.53950812C>G | CA389784681 | BMP4 | c.447G>C (p.Glu149Asp) c.305G>C (p.Arg102Thr) c.258G>C (p.Glu86Asp) c.588G>C (p.Glu196Asp) | |
| 14 | g.53950812C>T | CA261472680 | BMP4 | c.447G>A (p.Glu149=) c.305G>A (p.Arg102Lys) c.258G>A (p.Glu86=) c.588G>A (p.Glu196=) | dbSNP |
| 14 | g.53950813T>A | CA389784682 | BMP4 | c.446A>T (p.Glu149Val) c.304A>T (p.Arg102Ter) c.257A>T (p.Glu86Val) c.587A>T (p.Glu196Val) | |
| 14 | g.53950813T>C | CA389784683 | BMP4 | c.446A>G (p.Glu149Gly) c.304A>G (p.Arg102Gly) c.257A>G (p.Glu86Gly) c.587A>G (p.Glu196Gly) | |
| 14 | g.53950813T>G | CA389784684 | BMP4 | c.446A>C (p.Glu149Ala) c.304A>C (p.Arg102=) c.257A>C (p.Glu86Ala) c.587A>C (p.Glu196Ala) | |
| 14 | g.53950814C>A | CA389784685 | BMP4 | c.445G>T (p.Glu149Ter) c.303G>T (p.Leu101=) c.256G>T (p.Glu86Ter) c.586G>T (p.Glu196Ter) | gnomAD v4 |
| 14 | g.53950814C= | CA2137817860 | BMP4 | c.445G= (p.Glu149=) c.303G= (p.Leu101=) c.256G= (p.Glu86=) c.586G= (p.Glu196=) | |
| 14 | g.53950814C>G | CA389784686 | BMP4 | c.445G>C (p.Glu149Gln) c.303G>C (p.Leu101=) c.256G>C (p.Glu86Gln) c.586G>C (p.Glu196Gln) | |
| 14 | g.53950814C>T | CA389784687 | BMP4 | c.445G>A (p.Glu149Lys) c.303G>A (p.Leu101=) c.256G>A (p.Glu86Lys) c.586G>A (p.Glu196Lys) | dbSNP gnomAD v4 |
| 14 | g.53950815A>C | CA389784688 | BMP4 | c.444T>G (p.Pro148=) c.302T>G (p.Leu101Arg) c.255T>G (p.Pro85=) c.585T>G (p.Pro195=) | gnomAD v4 |
| 14 | g.53950815A>G | CA389784689 | BMP4 | c.444T>C (p.Pro148=) c.302T>C (p.Leu101Pro) c.255T>C (p.Pro85=) c.585T>C (p.Pro195=) | |
| 14 | g.53950815A>T | CA389784690 | BMP4 | c.444T>A (p.Pro148=) c.302T>A (p.Leu101Gln) c.255T>A (p.Pro85=) c.585T>A (p.Pro195=) | |
| 14 | g.53950816G>A | CA389784691 | BMP4 | c.443C>T (p.Pro148Leu) c.301C>T (p.Leu101=) c.254C>T (p.Pro85Leu) c.584C>T (p.Pro195Leu) | |
| 14 | g.53950816G>C | CA389784692 | BMP4 | c.443C>G (p.Pro148Arg) c.301C>G (p.Leu101Val) c.254C>G (p.Pro85Arg) c.584C>G (p.Pro195Arg) | |
| 14 | g.53950816G>T | CA389784693 | BMP4 | c.443C>A (p.Pro148His) c.301C>A (p.Leu101Met) c.254C>A (p.Pro85His) c.584C>A (p.Pro195His) | gnomAD v4 |
| 14 | g.53950818del | CA2624918044 | BMP4 | c.443del (p.Pro148LeufsTer5) c.301del (p.Leu101Ter) c.254del (p.Pro85LeufsTer5) c.584del (p.Pro195LeufsTer5) | gnomAD v4 |
| 14 | g.53950817G>A | CA7191735 | BMP4 | c.442C>T (p.Pro148Ser) c.300C>T (p.Ser100=) c.253C>T (p.Pro85Ser) c.583C>T (p.Pro195Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.53950817G>C | CA389784695 | BMP4 | c.442C>G (p.Pro148Ala) c.300C>G (p.Ser100=) c.253C>G (p.Pro85Ala) c.583C>G (p.Pro195Ala) | |
| 14 | g.53950817G= | CA2137817867 | BMP4 | c.442C= (p.Pro148=) c.300C= (p.Ser100=) c.253C= (p.Pro85=) c.583C= (p.Pro195=) | |
| 14 | g.53950817G>T | CA389784694 | BMP4 | c.442C>A (p.Pro148Thr) c.300C>A (p.Ser100=) c.253C>A (p.Pro85Thr) c.583C>A (p.Pro195Thr) | gnomAD v4 |