UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 14 | g.53950818G>A | CA389784696 | BMP4 | c.441C>T (p.Ile147=) c.299C>T (p.Ser100Phe) c.252C>T (p.Ile84=) c.582C>T (p.Ile194=) | gnomAD v4 |
| 14 | g.53950818G>C | CA389784697 | BMP4 | c.441C>G (p.Ile147Met) c.299C>G (p.Ser100Cys) c.252C>G (p.Ile84Met) c.582C>G (p.Ile194Met) | |
| 14 | g.53950818G>T | CA389784698 | BMP4 | c.441C>A (p.Ile147=) c.299C>A (p.Ser100Tyr) c.252C>A (p.Ile84=) c.582C>A (p.Ile194=) | gnomAD v4 |
| 14 | g.53950819A>C | CA389784699 | BMP4 | c.440T>G (p.Ile147Ser) c.298T>G (p.Ser100Ala) c.251T>G (p.Ile84Ser) c.581T>G (p.Ile194Ser) | |
| 14 | g.53950819A>G | CA389784700 | BMP4 | c.440T>C (p.Ile147Thr) c.298T>C (p.Ser100Pro) c.251T>C (p.Ile84Thr) c.581T>C (p.Ile194Thr) | |
| 14 | g.53950819A>T | CA389784701 | BMP4 | c.440T>A (p.Ile147Asn) c.298T>A (p.Ser100Thr) c.251T>A (p.Ile84Asn) c.581T>A (p.Ile194Asn) | |
| 14 | g.53950819_53950822delinsATGC | CA2137817869 | BMP4 | c.437_440delinsGCAT (p.Ser146=) c.296-1_298delinsGCAT c.248_251delinsGCAT (p.Ser83=) c.578_581delinsGCAT (p.Ser193=) | |
| 14 | g.53950820T>A | CA389784702 | BMP4 | c.439A>T (p.Ile147Phe) c.297A>T (p.Ala99=) c.250A>T (p.Ile84Phe) c.580A>T (p.Ile194Phe) | |
| 14 | g.53950820T>C | CA389784703 | BMP4 | c.439A>G (p.Ile147Val) c.297A>G (p.Ala99=) c.250A>G (p.Ile84Val) c.580A>G (p.Ile194Val) | gnomAD v4 |
| 14 | g.53950820T>G | CA389784704 | BMP4 | c.439A>C (p.Ile147Leu) c.297A>C (p.Ala99=) c.250A>C (p.Ile84Leu) c.580A>C (p.Ile194Leu) | |
| 14 | g.53950825_53950827del | CA614278097 | BMP4 | c.437_439del (p.Ser146del) c.296-1_297del c.248_250del (p.Ser83del) c.578_580del (p.Ser193del) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53950821G>A | CA389784706 | BMP4 | c.438C>T (p.Ser146=) c.296C>T (p.Ala99Val) c.249C>T (p.Ser83=) c.579C>T (p.Ser193=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53950821G>C | CA389784707 | BMP4 | c.438C>G (p.Ser146Arg) c.296C>G (p.Ala99Gly) c.249C>G (p.Ser83Arg) c.579C>G (p.Ser193Arg) | |
| 14 | g.53950821G= | CA2137817876 | BMP4 | c.438C= (p.Ser146=) c.296C= (p.Ala99=) c.249C= (p.Ser83=) c.579C= (p.Ser193=) | |
| 14 | g.53950821G>T | CA389784705 | BMP4 | c.438C>A (p.Ser146Arg) c.296C>A (p.Ala99Glu) c.249C>A (p.Ser83Arg) c.579C>A (p.Ser193Arg) | gnomAD v4 |
| 14 | g.53950822C>A | CA389784708 | BMP4 | c.437G>T (p.Ser146Ile) c.296-1G>T (n.296-1G>T) c.248G>T (p.Ser83Ile) c.578G>T (p.Ser193Ile) | |
| 14 | g.53950822C>G | CA389784709 | BMP4 | c.437G>C (p.Ser146Thr) c.296-1G>C (n.296-1G>C) c.248G>C (p.Ser83Thr) c.578G>C (p.Ser193Thr) | |
| 14 | g.53950822C>T | CA389784710 | BMP4 | c.437G>A (p.Ser146Asn) c.296-1G>A (n.296-1G>A) c.248G>A (p.Ser83Asn) c.578G>A (p.Ser193Asn) | gnomAD v4 |
| 14 | g.53950823T>A | CA389784711 | BMP4 | c.436A>T (p.Ser146Cys) c.296-2A>T (n.296-2A>T) c.247A>T (p.Ser83Cys) c.577A>T (p.Ser193Cys) | |
| 14 | g.53950823T>C | CA389784712 | BMP4 | c.436A>G (p.Ser146Gly) c.296-2A>G (n.296-2A>G) c.247A>G (p.Ser83Gly) c.577A>G (p.Ser193Gly) | ClinVar dbSNP gnomAD v4 |
| 14 | g.53950823T>G | CA389784713 | BMP4 | c.436A>C (p.Ser146Arg) c.296-2A>C (n.296-2A>C) c.247A>C (p.Ser83Arg) c.577A>C (p.Ser193Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.53950823T= | CA2137817878 | BMP4 | c.436A= (p.Ser146=) c.296-2A= (n.296-2A=) c.247A= (p.Ser83=) c.577A= (p.Ser193=) | |
| 14 | g.53950824G>A | CA486658632 | BMP4 | c.435C>T (p.Ser145=) c.296-3C>T (n.296-3C>T) c.246C>T (p.Ser82=) c.576C>T (p.Ser192=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950824G>C | CA389784714 | BMP4 | c.435C>G (p.Ser145Arg) c.296-3C>G (n.296-3C>G) c.246C>G (p.Ser82Arg) c.576C>G (p.Ser192Arg) | |
| 14 | g.53950824G= | CA2137817881 | BMP4 | c.435C= (p.Ser145=) c.296-3C= (n.296-3C=) c.246C= (p.Ser82=) c.576C= (p.Ser192=) | |
| 14 | g.53950824G>T | CA389784715 | BMP4 | c.435C>A (p.Ser145Arg) c.296-3C>A (n.296-3C>A) c.246C>A (p.Ser82Arg) c.576C>A (p.Ser192Arg) | gnomAD v4 |
| 14 | g.53950825C>A | CA389784716 | BMP4 | c.434G>T (p.Ser145Ile) c.296-4G>T (n.296-4G>T) c.245G>T (p.Ser82Ile) c.575G>T (p.Ser192Ile) | gnomAD v4 |
| 14 | g.53950825C= | CA2137817883 | BMP4 | c.434G= (p.Ser145=) c.296-4G= (n.296-4G=) c.245G= (p.Ser82=) c.575G= (p.Ser192=) | |
| 14 | g.53950825C>G | CA389784717 | BMP4 | c.434G>C (p.Ser145Thr) c.296-4G>C (n.296-4G>C) c.245G>C (p.Ser82Thr) c.575G>C (p.Ser192Thr) | dbSNP gnomAD v2 |
| 14 | g.53950825C>T | CA261472681 | BMP4 | c.434G>A (p.Ser145Asn) c.296-4G>A (n.296-4G>A) c.245G>A (p.Ser82Asn) c.575G>A (p.Ser192Asn) | dbSNP |
| 14 | g.53950826del | CA2575530819 | BMP4 | c.433del (p.Ser145AlafsTer8) c.296-5del (n.296-5del) c.244del (p.Ser82AlafsTer8) c.574del (p.Ser192AlafsTer8) | |
| 14 | g.53950826T>A | CA389784719 | BMP4 | c.433A>T (p.Ser145Cys) c.296-5A>T (n.296-5A>T) c.244A>T (p.Ser82Cys) c.574A>T (p.Ser192Cys) | |
| 14 | g.53950826T>C | CA389784720 | BMP4 | c.433A>G (p.Ser145Gly) c.296-5A>G (n.296-5A>G) c.244A>G (p.Ser82Gly) c.574A>G (p.Ser192Gly) | |
| 14 | g.53950826T>G | CA389784718 | BMP4 | c.433A>C (p.Ser145Arg) c.296-5A>C (n.296-5A>C) c.244A>C (p.Ser82Arg) c.574A>C (p.Ser192Arg) | |
| 14 | g.53950827G>A | CA486658638 | BMP4 | c.432C>T (p.Leu144=) c.296-6C>T (n.296-6C>T) c.243C>T (p.Leu81=) c.573C>T (p.Leu191=) | COSMIC |
| 14 | g.53950827G>C | CA486658639 | BMP4 | c.432C>G (p.Leu144=) c.296-6C>G (n.296-6C>G) c.243C>G (p.Leu81=) c.573C>G (p.Leu191=) | |
| 14 | g.53950827G>T | CA486658641 | BMP4 | c.432C>A (p.Leu144=) c.296-6C>A (n.296-6C>A) c.243C>A (p.Leu81=) c.573C>A (p.Leu191=) | gnomAD v4 |
| 14 | g.53950828A>C | CA389784721 | BMP4 | c.431T>G (p.Leu144Arg) c.296-7T>G (n.296-7T>G) c.242T>G (p.Leu81Arg) c.572T>G (p.Leu191Arg) | |
| 14 | g.53950828A>G | CA389784722 | BMP4 | c.431T>C (p.Leu144Pro) c.296-7T>C (n.296-7T>C) c.242T>C (p.Leu81Pro) c.572T>C (p.Leu191Pro) | |
| 14 | g.53950828A>T | CA389784723 | BMP4 | c.431T>A (p.Leu144His) c.296-7T>A (n.296-7T>A) c.242T>A (p.Leu81His) c.572T>A (p.Leu191His) | |
| 14 | g.53950829G>A | CA261472682 | BMP4 | c.430C>T (p.Leu144Phe) c.296-8C>T (n.296-8C>T) c.241C>T (p.Leu81Phe) c.571C>T (p.Leu191Phe) | dbSNP gnomAD v4 |
| 14 | g.53950829G>C | CA389784724 | BMP4 | c.430C>G (p.Leu144Val) c.296-8C>G (n.296-8C>G) c.241C>G (p.Leu81Val) c.571C>G (p.Leu191Val) | ClinVar |
| 14 | g.53950829G= | CA2137817890 | BMP4 | c.430C= (p.Leu144=) c.296-8C= (n.296-8C=) c.241C= (p.Leu81=) c.571C= (p.Leu191=) | |
| 14 | g.53950829G>T | CA389784725 | BMP4 | c.430C>A (p.Leu144Ile) c.296-8C>A (n.296-8C>A) c.241C>A (p.Leu81Ile) c.571C>A (p.Leu191Ile) | gnomAD v4 |
| 14 | g.53950830G>A | CA486658644 | BMP4 | c.429C>T (p.Asn143=) c.296-9C>T (n.296-9C>T) c.240C>T (p.Asn80=) c.570C>T (p.Asn190=) | gnomAD v4 COSMIC |
| 14 | g.53950830G>C | CA389784726 | BMP4 | c.429C>G (p.Asn143Lys) c.296-9C>G (n.296-9C>G) c.240C>G (p.Asn80Lys) c.570C>G (p.Asn190Lys) | |
| 14 | g.53950830G>T | CA389784727 | BMP4 | c.429C>A (p.Asn143Lys) c.296-9C>A (n.296-9C>A) c.240C>A (p.Asn80Lys) c.570C>A (p.Asn190Lys) | gnomAD v4 |
| 14 | g.53950830_53950831insGTGACCAGGAGGGGCCGGAGCTGGGCCCAATTCCCAC | CA2624918045 | BMP4 | c.428_429insGTGGGAATTGGGCCCAGCTCCGGCCCCTCCTGGTCAC (p.Asn143LysfsTer19) c.296-10_296-9insGTGGGAATTGGGCCCAGCTCCGGCCCCTCCTGGTCAC (n.296-10_296-9insGTGGGAATTGGGCCCAGCTCCGGCCCCTCCTGGTCAC) c.239_240insGTGGGAATTGGGCCCAGCTCCGGCCCCTCCTGGTCAC (p.Asn80LysfsTer19) c.569_570insGTGGGAATTGGGCCCAGCTCCGGCCCCTCCTGGTCAC (p.Asn190LysfsTer19) | gnomAD v4 |
| 14 | g.53950831T>A | CA389784728 | BMP4 | c.428A>T (p.Asn143Ile) c.296-10A>T (n.296-10A>T) c.239A>T (p.Asn80Ile) c.569A>T (p.Asn190Ile) | |
| 14 | g.53950831T>C | CA389784729 | BMP4 | c.428A>G (p.Asn143Ser) c.296-10A>G (n.296-10A>G) c.239A>G (p.Asn80Ser) c.569A>G (p.Asn190Ser) | |
| 14 | g.53950831T>G | CA389784730 | BMP4 | c.428A>C (p.Asn143Thr) c.296-10A>C (n.296-10A>C) c.239A>C (p.Asn80Thr) c.569A>C (p.Asn190Thr) | |
| 14 | g.53950832T>A | CA389784731 | BMP4 | c.427A>T (p.Asn143Tyr) c.296-11A>T (n.296-11A>T) c.238A>T (p.Asn80Tyr) c.568A>T (p.Asn190Tyr) | |
| 14 | g.53950832T>C | CA389784732 | BMP4 | c.427A>G (p.Asn143Asp) c.296-11A>G (n.296-11A>G) c.238A>G (p.Asn80Asp) c.568A>G (p.Asn190Asp) | |
| 14 | g.53950832T>G | CA389784733 | BMP4 | c.427A>C (p.Asn143His) c.296-11A>C (n.296-11A>C) c.238A>C (p.Asn80His) c.568A>C (p.Asn190His) | |
| 14 | g.53950833A= | CA2137817897 | BMP4 | c.426T= (p.Phe142=) c.296-12T= (n.296-12T=) c.237T= (p.Phe79=) c.567T= (p.Phe189=) | |
| 14 | g.53950833A>C | CA389784734 | BMP4 | c.426T>G (p.Phe142Leu) c.296-12T>G (n.296-12T>G) c.237T>G (p.Phe79Leu) c.567T>G (p.Phe189Leu) | |
| 14 | g.53950833A>G | CA486658648 | BMP4 | c.426T>C (p.Phe142=) c.296-12T>C (n.296-12T>C) c.237T>C (p.Phe79=) c.567T>C (p.Phe189=) | |
| 14 | g.53950833A>T | CA389784735 | BMP4 | c.426T>A (p.Phe142Leu) c.296-12T>A (n.296-12T>A) c.237T>A (p.Phe79Leu) c.567T>A (p.Phe189Leu) | ClinVar dbSNP |
| 14 | g.53950834A>C | CA389784736 | BMP4 | c.425T>G (p.Phe142Cys) c.296-13T>G (n.296-13T>G) c.236T>G (p.Phe79Cys) c.566T>G (p.Phe189Cys) | |
| 14 | g.53950834A>G | CA389784738 | BMP4 | c.425T>C (p.Phe142Ser) c.296-13T>C (n.296-13T>C) c.236T>C (p.Phe79Ser) c.566T>C (p.Phe189Ser) | |
| 14 | g.53950834A>T | CA389784737 | BMP4 | c.425T>A (p.Phe142Tyr) c.296-13T>A (n.296-13T>A) c.236T>A (p.Phe79Tyr) c.566T>A (p.Phe189Tyr) | |
| 14 | g.53950835A>C | CA389784739 | BMP4 | c.424T>G (p.Phe142Val) c.296-14T>G (n.296-14T>G) c.235T>G (p.Phe79Val) c.565T>G (p.Phe189Val) | |
| 14 | g.53950835A>G | CA389784740 | BMP4 | c.424T>C (p.Phe142Leu) c.296-14T>C (n.296-14T>C) c.235T>C (p.Phe79Leu) c.565T>C (p.Phe189Leu) | |
| 14 | g.53950835A>T | CA389784741 | BMP4 | c.424T>A (p.Phe142Ile) c.296-14T>A (n.296-14T>A) c.235T>A (p.Phe79Ile) c.565T>A (p.Phe189Ile) | |
| 14 | g.53950836G>A | CA486658656 | BMP4 | c.423C>T (p.Leu141=) c.296-15C>T (n.296-15C>T) c.234C>T (p.Leu78=) c.564C>T (p.Leu188=) | gnomAD v4 |
| 14 | g.53950836G>C | CA486658653 | BMP4 | c.423C>G (p.Leu141=) c.296-15C>G (n.296-15C>G) c.234C>G (p.Leu78=) c.564C>G (p.Leu188=) | |
| 14 | g.53950836G>T | CA486658655 | BMP4 | c.423C>A (p.Leu141=) c.296-15C>A (n.296-15C>A) c.234C>A (p.Leu78=) c.564C>A (p.Leu188=) | |
| 14 | g.53950837A>C | CA389784742 | BMP4 | c.422T>G (p.Leu141Arg) c.296-16T>G (n.296-16T>G) c.233T>G (p.Leu78Arg) c.563T>G (p.Leu188Arg) | |
| 14 | g.53950837A>G | CA389784743 | BMP4 | c.422T>C (p.Leu141Pro) c.296-16T>C (n.296-16T>C) c.233T>C (p.Leu78Pro) c.563T>C (p.Leu188Pro) | |
| 14 | g.53950837A>T | CA389784744 | BMP4 | c.422T>A (p.Leu141His) c.296-16T>A (n.296-16T>A) c.233T>A (p.Leu78His) c.563T>A (p.Leu188His) | |
| 14 | g.53950838G>A | CA389784745 | BMP4 | c.421C>T (p.Leu141Phe) c.296-17C>T (n.296-17C>T) c.232C>T (p.Leu78Phe) c.562C>T (p.Leu188Phe) | |
| 14 | g.53950838G>C | CA389784746 | BMP4 | c.421C>G (p.Leu141Val) c.296-17C>G (n.296-17C>G) c.232C>G (p.Leu78Val) c.562C>G (p.Leu188Val) | |
| 14 | g.53950838G>T | CA389784747 | BMP4 | c.421C>A (p.Leu141Ile) c.296-17C>A (n.296-17C>A) c.232C>A (p.Leu78Ile) c.562C>A (p.Leu188Ile) | COSMIC |
| 14 | g.53950839G>A | CA486658663 | BMP4 | c.420C>T (p.Phe140=) c.296-18C>T (n.296-18C>T) c.231C>T (p.Phe77=) c.561C>T (p.Phe187=) | |
| 14 | g.53950839G>C | CA389784748 | BMP4 | c.420C>G (p.Phe140Leu) c.296-18C>G (n.296-18C>G) c.231C>G (p.Phe77Leu) c.561C>G (p.Phe187Leu) | |
| 14 | g.53950839G>T | CA389784749 | BMP4 | c.420C>A (p.Phe140Leu) c.296-18C>A (n.296-18C>A) c.231C>A (p.Phe77Leu) c.561C>A (p.Phe187Leu) | gnomAD v4 |
| 14 | g.53950840A>C | CA389784752 | BMP4 | c.419T>G (p.Phe140Cys) c.296-19T>G (n.296-19T>G) c.230T>G (p.Phe77Cys) c.560T>G (p.Phe187Cys) | |
| 14 | g.53950840A>G | CA389784750 | BMP4 | c.419T>C (p.Phe140Ser) c.296-19T>C (n.296-19T>C) c.230T>C (p.Phe77Ser) c.560T>C (p.Phe187Ser) | |
| 14 | g.53950840A>T | CA389784751 | BMP4 | c.419T>A (p.Phe140Tyr) c.296-19T>A (n.296-19T>A) c.230T>A (p.Phe77Tyr) c.560T>A (p.Phe187Tyr) | |
| 14 | g.53950842del | CA2695219359 | BMP4 | c.419del (p.Phe140SerfsTer13) c.296-19del (n.296-19del) c.230del (p.Phe77SerfsTer13) c.560del (p.Phe187SerfsTer13) | |
| 14 | g.53950841A= | CA2137817900 | BMP4 | c.418T= (p.Phe140=) c.296-20T= (n.296-20T=) c.229T= (p.Phe77=) c.559T= (p.Phe187=) | |
| 14 | g.53950841A>C | CA389784753 | BMP4 | c.418T>G (p.Phe140Val) c.296-20T>G (n.296-20T>G) c.229T>G (p.Phe77Val) c.559T>G (p.Phe187Val) | |
| 14 | g.53950841A>G | CA389784754 | BMP4 | c.418T>C (p.Phe140Leu) c.296-20T>C (n.296-20T>C) c.229T>C (p.Phe77Leu) c.559T>C (p.Phe187Leu) | |
| 14 | g.53950841A>T | CA389784755 | BMP4 | c.418T>A (p.Phe140Ile) c.296-20T>A (n.296-20T>A) c.229T>A (p.Phe77Ile) c.559T>A (p.Phe187Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950842A>C | CA486658669 | BMP4 | c.417T>G (p.Arg139=) c.296-21T>G (n.296-21T>G) c.228T>G (p.Arg76=) c.558T>G (p.Arg186=) | |
| 14 | g.53950842A>G | CA486658668 | BMP4 | c.417T>C (p.Arg139=) c.296-21T>C (n.296-21T>C) c.228T>C (p.Arg76=) c.558T>C (p.Arg186=) | |
| 14 | g.53950842A>T | CA486658670 | BMP4 | c.417T>A (p.Arg139=) c.296-21T>A (n.296-21T>A) c.228T>A (p.Arg76=) c.558T>A (p.Arg186=) | |
| 14 | g.53950843C>A | CA389784756 | BMP4 | c.416G>T (p.Arg139Leu) c.296-22G>T (n.296-22G>T) c.227G>T (p.Arg76Leu) c.557G>T (p.Arg186Leu) | ClinVar gnomAD v4 |
| 14 | g.53950843C= | CA2137817903 | BMP4 | c.416G= (p.Arg139=) c.296-22G= (n.296-22G=) c.227G= (p.Arg76=) c.557G= (p.Arg186=) | |
| 14 | g.53950843C>G | CA389784757 | BMP4 | c.416G>C (p.Arg139Pro) c.296-22G>C (n.296-22G>C) c.227G>C (p.Arg76Pro) c.557G>C (p.Arg186Pro) | |
| 14 | g.53950843C>T | CA7191736 | BMP4 | c.416G>A (p.Arg139His) c.296-22G>A (n.296-22G>A) c.227G>A (p.Arg76His) c.557G>A (p.Arg186His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.53950844G>A | CA7191737 | BMP4 | c.415C>T (p.Arg139Cys) c.296-23C>T (n.296-23C>T) c.226C>T (p.Arg76Cys) c.556C>T (p.Arg186Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.53950844G>C | CA389784758 | BMP4 | c.415C>G (p.Arg139Gly) c.296-23C>G (n.296-23C>G) c.226C>G (p.Arg76Gly) c.556C>G (p.Arg186Gly) | gnomAD v4 |
| 14 | g.53950844G= | CA2137817908 | BMP4 | c.415C= (p.Arg139=) c.296-23C= (n.296-23C=) c.226C= (p.Arg76=) c.556C= (p.Arg186=) | |
| 14 | g.53950844G>T | CA389784759 | BMP4 | c.415C>A (p.Arg139Ser) c.296-23C>A (n.296-23C>A) c.226C>A (p.Arg76Ser) c.556C>A (p.Arg186Ser) | gnomAD v4 |
| 14 | g.53950845A>C | CA389784760 | BMP4 | c.414T>G (p.Phe138Leu) c.296-24T>G (n.296-24T>G) c.225T>G (p.Phe75Leu) c.555T>G (p.Phe185Leu) | |
| 14 | g.53950845A>G | CA486658678 | BMP4 | c.414T>C (p.Phe138=) c.296-24T>C (n.296-24T>C) c.225T>C (p.Phe75=) c.555T>C (p.Phe185=) | |
| 14 | g.53950845A>T | CA389784761 | BMP4 | c.414T>A (p.Phe138Leu) c.296-24T>A (n.296-24T>A) c.225T>A (p.Phe75Leu) c.555T>A (p.Phe185Leu) | |
| 14 | g.53950846A>C | CA389784763 | BMP4 | c.413T>G (p.Phe138Cys) c.296-25T>G (n.296-25T>G) c.224T>G (p.Phe75Cys) c.554T>G (p.Phe185Cys) | |
| 14 | g.53950846A>G | CA389784764 | BMP4 | c.413T>C (p.Phe138Ser) c.296-25T>C (n.296-25T>C) c.224T>C (p.Phe75Ser) c.554T>C (p.Phe185Ser) | |
| 14 | g.53950846A>T | CA389784762 | BMP4 | c.413T>A (p.Phe138Tyr) c.296-25T>A (n.296-25T>A) c.224T>A (p.Phe75Tyr) c.554T>A (p.Phe185Tyr) | |
| 14 | g.53950847A>C | CA389784765 | BMP4 | c.412T>G (p.Phe138Val) c.296-26T>G (n.296-26T>G) c.223T>G (p.Phe75Val) c.553T>G (p.Phe185Val) | |
| 14 | g.53950847A>G | CA389784766 | BMP4 | c.412T>C (p.Phe138Leu) c.296-26T>C (n.296-26T>C) c.223T>C (p.Phe75Leu) c.553T>C (p.Phe185Leu) | |
| 14 | g.53950847A>T | CA389784767 | BMP4 | c.412T>A (p.Phe138Ile) c.296-26T>A (n.296-26T>A) c.223T>A (p.Phe75Ile) c.553T>A (p.Phe185Ile) | |
| 14 | g.53950848A>C | CA486658683 | BMP4 | c.411T>G (p.Ala137=) c.296-27T>G (n.296-27T>G) c.222T>G (p.Ala74=) c.552T>G (p.Ala184=) | gnomAD v4 |
| 14 | g.53950848A>G | CA486658684 | BMP4 | c.411T>C (p.Ala137=) c.296-27T>C (n.296-27T>C) c.222T>C (p.Ala74=) c.552T>C (p.Ala184=) | |
| 14 | g.53950848A>T | CA486658685 | BMP4 | c.411T>A (p.Ala137=) c.296-27T>A (n.296-27T>A) c.222T>A (p.Ala74=) c.552T>A (p.Ala184=) | |
| 14 | g.53950849G>A | CA389784768 | BMP4 | c.410C>T (p.Ala137Val) c.296-28C>T (n.296-28C>T) c.221C>T (p.Ala74Val) c.551C>T (p.Ala184Val) | |
| 14 | g.53950849G>C | CA389784769 | BMP4 | c.410C>G (p.Ala137Gly) c.296-28C>G (n.296-28C>G) c.221C>G (p.Ala74Gly) c.551C>G (p.Ala184Gly) | gnomAD v4 |
| 14 | g.53950849G>T | CA389784770 | BMP4 | c.410C>A (p.Ala137Asp) c.296-28C>A (n.296-28C>A) c.221C>A (p.Ala74Asp) c.551C>A (p.Ala184Asp) | gnomAD v4 |
| 14 | g.53950850C>A | CA389784771 | BMP4 | c.409G>T (p.Ala137Ser) c.296-29G>T (n.296-29G>T) c.220G>T (p.Ala74Ser) c.550G>T (p.Ala184Ser) | |
| 14 | g.53950850C= | CA2137817915 | BMP4 | c.409G= (p.Ala137=) c.296-29G= (n.296-29G=) c.220G= (p.Ala74=) c.550G= (p.Ala184=) | |
| 14 | g.53950850C>G | CA7191738 | BMP4 | c.409G>C (p.Ala137Pro) c.296-29G>C (n.296-29G>C) c.220G>C (p.Ala74Pro) c.550G>C (p.Ala184Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.53950850C>T | CA389784772 | BMP4 | c.409G>A (p.Ala137Thr) c.296-29G>A (n.296-29G>A) c.220G>A (p.Ala74Thr) c.550G>A (p.Ala184Thr) | gnomAD v4 |
| 14 | g.53950851A>C | CA486658690 | BMP4 | c.408T>G (p.Ser136=) c.296-30T>G (n.296-30T>G) c.219T>G (p.Ser73=) c.549T>G (p.Ser183=) | gnomAD v4 |
| 14 | g.53950851A>G | CA486658691 | BMP4 | c.408T>C (p.Ser136=) c.296-30T>C (n.296-30T>C) c.219T>C (p.Ser73=) c.549T>C (p.Ser183=) | |
| 14 | g.53950851A>T | CA486658692 | BMP4 | c.408T>A (p.Ser136=) c.296-30T>A (n.296-30T>A) c.219T>A (p.Ser73=) c.549T>A (p.Ser183=) | gnomAD v4 |
| 14 | g.53950852G>A | CA389784773 | BMP4 | c.407C>T (p.Ser136Phe) c.296-31C>T (n.296-31C>T) c.218C>T (p.Ser73Phe) c.548C>T (p.Ser183Phe) | |
| 14 | g.53950852G>C | CA389784774 | BMP4 | c.407C>G (p.Ser136Cys) c.296-31C>G (n.296-31C>G) c.218C>G (p.Ser73Cys) c.548C>G (p.Ser183Cys) | |
| 14 | g.53950852G>T | CA389784775 | BMP4 | c.407C>A (p.Ser136Tyr) c.296-31C>A (n.296-31C>A) c.218C>A (p.Ser73Tyr) c.548C>A (p.Ser183Tyr) | COSMIC |
| 14 | g.53950853A= | CA2137817919 | BMP4 | c.406T= (p.Ser136=) c.296-32T= (n.296-32T=) c.217T= (p.Ser73=) c.547T= (p.Ser183=) | |
| 14 | g.53950853A>C | CA389784776 | BMP4 | c.406T>G (p.Ser136Ala) c.296-32T>G (n.296-32T>G) c.217T>G (p.Ser73Ala) c.547T>G (p.Ser183Ala) | |
| 14 | g.53950853A>G | CA389784777 | BMP4 | c.406T>C (p.Ser136Pro) c.296-32T>C (n.296-32T>C) c.217T>C (p.Ser73Pro) c.547T>C (p.Ser183Pro) | |
| 14 | g.53950853A>T | CA7191739 | BMP4 | c.406T>A (p.Ser136Thr) c.296-32T>A (n.296-32T>A) c.217T>A (p.Ser73Thr) c.547T>A (p.Ser183Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.53950854G>A | CA486658699 | BMP4 | c.405C>T (p.Asn135=) c.296-33C>T (n.296-33C>T) c.216C>T (p.Asn72=) c.546C>T (p.Asn182=) | |
| 14 | g.53950854G>C | CA389784778 | BMP4 | c.405C>G (p.Asn135Lys) c.296-33C>G (n.296-33C>G) c.216C>G (p.Asn72Lys) c.546C>G (p.Asn182Lys) | |
| 14 | g.53950854G>T | CA389784779 | BMP4 | c.405C>A (p.Asn135Lys) c.296-33C>A (n.296-33C>A) c.216C>A (p.Asn72Lys) c.546C>A (p.Asn182Lys) | gnomAD v4 |
| 14 | g.53950855T>A | CA389784780 | BMP4 | c.404A>T (p.Asn135Ile) c.296-34A>T (n.296-34A>T) c.215A>T (p.Asn72Ile) c.545A>T (p.Asn182Ile) | COSMIC |
| 14 | g.53950855T>C | CA389784782 | BMP4 | c.404A>G (p.Asn135Ser) c.296-34A>G (n.296-34A>G) c.215A>G (p.Asn72Ser) c.545A>G (p.Asn182Ser) | |
| 14 | g.53950855T>G | CA389784783 | BMP4 | c.404A>C (p.Asn135Thr) c.296-34A>C (n.296-34A>C) c.215A>C (p.Asn72Thr) c.545A>C (p.Asn182Thr) | |
| 14 | g.53950856T>A | CA389784785 | BMP4 | c.403A>T (p.Asn135Tyr) c.296-35A>T (n.296-35A>T) c.214A>T (p.Asn72Tyr) c.544A>T (p.Asn182Tyr) | |
| 14 | g.53950856T>C | CA7191740 | BMP4 | c.403A>G (p.Asn135Asp) c.296-35A>G (n.296-35A>G) c.214A>G (p.Asn72Asp) c.544A>G (p.Asn182Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950856T>G | CA389784784 | BMP4 | c.403A>C (p.Asn135His) c.296-35A>C (n.296-35A>C) c.214A>C (p.Asn72His) c.544A>C (p.Asn182His) | |
| 14 | g.53950856T= | CA2137817923 | BMP4 | c.403A= (p.Asn135=) c.296-35A= (n.296-35A=) c.214A= (p.Asn72=) c.544A= (p.Asn182=) | |
| 14 | g.53950857T>A | CA389784786 | BMP4 | c.402A>T (p.Glu134Asp) c.296-36A>T (n.296-36A>T) c.213A>T (p.Glu71Asp) c.543A>T (p.Glu181Asp) | |
| 14 | g.53950857T>C | CA486658703 | BMP4 | c.402A>G (p.Glu134=) c.296-36A>G (n.296-36A>G) c.213A>G (p.Glu71=) c.543A>G (p.Glu181=) | |
| 14 | g.53950857T>G | CA389784787 | BMP4 | c.402A>C (p.Glu134Asp) c.296-36A>C (n.296-36A>C) c.213A>C (p.Glu71Asp) c.543A>C (p.Glu181Asp) | |
| 14 | g.53950858T>A | CA389784788 | BMP4 | c.401A>T (p.Glu134Val) c.296-37A>T (n.296-37A>T) c.212A>T (p.Glu71Val) c.542A>T (p.Glu181Val) | |
| 14 | g.53950858T>C | CA389784789 | BMP4 | c.401A>G (p.Glu134Gly) c.296-37A>G (n.296-37A>G) c.212A>G (p.Glu71Gly) c.542A>G (p.Glu181Gly) | |
| 14 | g.53950858T>G | CA389784790 | BMP4 | c.401A>C (p.Glu134Ala) c.296-37A>C (n.296-37A>C) c.212A>C (p.Glu71Ala) c.542A>C (p.Glu181Ala) | |
| 14 | g.53950859C>A | CA389784793 | BMP4 | c.400G>T (p.Glu134Ter) c.296-38G>T (n.296-38G>T) c.211G>T (p.Glu71Ter) c.541G>T (p.Glu181Ter) | gnomAD v4 |
| 14 | g.53950859C>G | CA389784792 | BMP4 | c.400G>C (p.Glu134Gln) c.296-38G>C (n.296-38G>C) c.211G>C (p.Glu71Gln) c.541G>C (p.Glu181Gln) | |
| 14 | g.53950859C>T | CA389784791 | BMP4 | c.400G>A (p.Glu134Lys) c.296-38G>A (n.296-38G>A) c.211G>A (p.Glu71Lys) c.541G>A (p.Glu181Lys) | |
| 14 | g.53950860A>C | CA389784794 | BMP4 | c.399T>G (p.Ser133Arg) c.296-39T>G (n.296-39T>G) c.210T>G (p.Ser70Arg) c.540T>G (p.Ser180Arg) | |
| 14 | g.53950860A>G | CA486658710 | BMP4 | c.399T>C (p.Ser133=) c.296-39T>C (n.296-39T>C) c.210T>C (p.Ser70=) c.540T>C (p.Ser180=) | |
| 14 | g.53950860A>T | CA389784795 | BMP4 | c.399T>A (p.Ser133Arg) c.296-39T>A (n.296-39T>A) c.210T>A (p.Ser70Arg) c.540T>A (p.Ser180Arg) | |
| 14 | g.53950861C>A | CA389784796 | BMP4 | c.398G>T (p.Ser133Ile) c.296-40G>T (n.296-40G>T) c.209G>T (p.Ser70Ile) c.539G>T (p.Ser180Ile) | COSMIC |
| 14 | g.53950861C= | CA2137817928 | BMP4 | c.398G= (p.Ser133=) c.296-40G= (n.296-40G=) c.209G= (p.Ser70=) c.539G= (p.Ser180=) | |
| 14 | g.53950861C>G | CA389784797 | BMP4 | c.398G>C (p.Ser133Thr) c.296-40G>C (n.296-40G>C) c.209G>C (p.Ser70Thr) c.539G>C (p.Ser180Thr) | |
| 14 | g.53950861C>T | CA261472683 | BMP4 | c.398G>A (p.Ser133Asn) c.296-40G>A (n.296-40G>A) c.209G>A (p.Ser70Asn) c.539G>A (p.Ser180Asn) | ClinVar dbSNP gnomAD v4 |
| 14 | g.53950862T>A | CA389784798 | BMP4 | c.397A>T (p.Ser133Cys) c.296-41A>T (n.296-41A>T) c.208A>T (p.Ser70Cys) c.538A>T (p.Ser180Cys) | |
| 14 | g.53950862T>C | CA389784799 | BMP4 | c.397A>G (p.Ser133Gly) c.296-41A>G (n.296-41A>G) c.208A>G (p.Ser70Gly) c.538A>G (p.Ser180Gly) | gnomAD v4 |
| 14 | g.53950862T>G | CA389784800 | BMP4 | c.397A>C (p.Ser133Arg) c.296-41A>C (n.296-41A>C) c.208A>C (p.Ser70Arg) c.538A>C (p.Ser180Arg) | |
| 14 | g.53950863G>A | CA486658716 | BMP4 | c.396C>T (p.Thr132=) c.296-42C>T (n.296-42C>T) c.207C>T (p.Thr69=) c.537C>T (p.Thr179=) | |
| 14 | g.53950863G>C | CA486658718 | BMP4 | c.396C>G (p.Thr132=) c.296-42C>G (n.296-42C>G) c.207C>G (p.Thr69=) c.537C>G (p.Thr179=) | |
| 14 | g.53950863G>T | CA486658714 | BMP4 | c.396C>A (p.Thr132=) c.296-42C>A (n.296-42C>A) c.207C>A (p.Thr69=) c.537C>A (p.Thr179=) | |
| 14 | g.53950864G>A | CA389784801 | BMP4 | c.395C>T (p.Thr132Ile) c.296-43C>T (n.296-43C>T) c.206C>T (p.Thr69Ile) c.536C>T (p.Thr179Ile) | |
| 14 | g.53950864G>C | CA389784802 | BMP4 | c.395C>G (p.Thr132Ser) c.296-43C>G (n.296-43C>G) c.206C>G (p.Thr69Ser) c.536C>G (p.Thr179Ser) | |
| 14 | g.53950864G>T | CA389784803 | BMP4 | c.395C>A (p.Thr132Asn) c.296-43C>A (n.296-43C>A) c.206C>A (p.Thr69Asn) c.536C>A (p.Thr179Asn) | gnomAD v4 |
| 14 | g.53950865T>A | CA261472684 | BMP4 | c.394A>T (p.Thr132Ser) c.296-44A>T (n.296-44A>T) c.205A>T (p.Thr69Ser) c.535A>T (p.Thr179Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53950865T>C | CA7191741 | BMP4 | c.394A>G (p.Thr132Ala) c.296-44A>G (n.296-44A>G) c.205A>G (p.Thr69Ala) c.535A>G (p.Thr179Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950865T>G | CA389784804 | BMP4 | c.394A>C (p.Thr132Pro) c.296-44A>C (n.296-44A>C) c.205A>C (p.Thr69Pro) c.535A>C (p.Thr179Pro) | |
| 14 | g.53950865T= | CA2137817937 | BMP4 | c.394A= (p.Thr132=) c.296-44A= (n.296-44A=) c.205A= (p.Thr69=) c.535A= (p.Thr179=) | |
| 14 | g.53950866C>A | CA486658730 | BMP4 | c.393G>T (p.Gly131=) c.296-45G>T (n.296-45G>T) c.204G>T (p.Gly68=) c.534G>T (p.Gly178=) | gnomAD v4 |
| 14 | g.53950866C= | CA2137817940 | BMP4 | c.393G= (p.Gly131=) c.296-45G= (n.296-45G=) c.204G= (p.Gly68=) c.534G= (p.Gly178=) | |
| 14 | g.53950866C>G | CA486658729 | BMP4 | c.393G>C (p.Gly131=) c.296-45G>C (n.296-45G>C) c.204G>C (p.Gly68=) c.534G>C (p.Gly178=) | gnomAD v4 |
| 14 | g.53950866C>T | CA261472685 | BMP4 | c.393G>A (p.Gly131=) c.296-45G>A (n.296-45G>A) c.204G>A (p.Gly68=) c.534G>A (p.Gly178=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950866_53950879delinsCCCTGGGATGTTCT | CA2137817942 | BMP4 | c.380_393delinsAGAACATCCCAGGG (p.Glu127=) c.296-58_296-45delinsAGAACATCCCAGGG (n.296-58_296-45delinsAGAACATCCCAGGG) c.191_204delinsAGAACATCCCAGGG (p.Glu64=) c.521_534delinsAGAACATCCCAGGG (p.Glu174=) | |
| 14 | g.53950867C>A | CA389784805 | BMP4 | c.392G>T (p.Gly131Val) c.296-46G>T (n.296-46G>T) c.203G>T (p.Gly68Val) c.533G>T (p.Gly178Val) | |
| 14 | g.53950867C>G | CA389784806 | BMP4 | c.392G>C (p.Gly131Ala) c.296-46G>C (n.296-46G>C) c.203G>C (p.Gly68Ala) c.533G>C (p.Gly178Ala) | |
| 14 | g.53950867C>T | CA389784807 | BMP4 | c.392G>A (p.Gly131Glu) c.296-46G>A (n.296-46G>A) c.203G>A (p.Gly68Glu) c.533G>A (p.Gly178Glu) | gnomAD v4 |
| 14 | g.53950869_53950881del | CA16619874 | BMP4 | c.380_392del (p.Glu127GlyfsTer22) c.296-58_296-46del (n.296-58_296-46del) c.191_203del (p.Glu64GlyfsTer22) c.521_533del (p.Glu174GlyfsTer22) | ClinVar dbSNP |
| 14 | g.53950868C>A | CA389784808 | BMP4 | c.391G>T (p.Gly131Trp) c.296-47G>T (n.296-47G>T) c.202G>T (p.Gly68Trp) c.532G>T (p.Gly178Trp) | |
| 14 | g.53950868C>G | CA389784810 | BMP4 | c.391G>C (p.Gly131Arg) c.296-47G>C (n.296-47G>C) c.202G>C (p.Gly68Arg) c.532G>C (p.Gly178Arg) | |
| 14 | g.53950868C>T | CA389784809 | BMP4 | c.391G>A (p.Gly131Arg) c.296-47G>A (n.296-47G>A) c.202G>A (p.Gly68Arg) c.532G>A (p.Gly178Arg) | |
| 14 | g.53950869T>A | CA486658732 | BMP4 | c.390A>T (p.Pro130=) c.296-48A>T (n.296-48A>T) c.201A>T (p.Pro67=) c.531A>T (p.Pro177=) | |
| 14 | g.53950869T>C | CA486658735 | BMP4 | c.390A>G (p.Pro130=) c.296-48A>G (n.296-48A>G) c.201A>G (p.Pro67=) c.531A>G (p.Pro177=) | |
| 14 | g.53950869T>G | CA486658733 | BMP4 | c.390A>C (p.Pro130=) c.296-48A>C (n.296-48A>C) c.201A>C (p.Pro67=) c.531A>C (p.Pro177=) | gnomAD v4 |
| 14 | g.53950870G>A | CA389784811 | BMP4 | c.389C>T (p.Pro130Leu) c.296-49C>T (n.296-49C>T) c.200C>T (p.Pro67Leu) c.530C>T (p.Pro177Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53950870G>C | CA389784812 | BMP4 | c.389C>G (p.Pro130Arg) c.296-49C>G (n.296-49C>G) c.200C>G (p.Pro67Arg) c.530C>G (p.Pro177Arg) | |
| 14 | g.53950870G= | CA2137817950 | BMP4 | c.389C= (p.Pro130=) c.296-49C= (n.296-49C=) c.200C= (p.Pro67=) c.530C= (p.Pro177=) | |
| 14 | g.53950870G>T | CA389784813 | BMP4 | c.389C>A (p.Pro130Gln) c.296-49C>A (n.296-49C>A) c.200C>A (p.Pro67Gln) c.530C>A (p.Pro177Gln) | |
| 14 | g.53950871G>A | CA389784814 | BMP4 | c.388C>T (p.Pro130Ser) c.296-50C>T (n.296-50C>T) c.199C>T (p.Pro67Ser) c.529C>T (p.Pro177Ser) | |
| 14 | g.53950871G>C | CA389784815 | BMP4 | c.388C>G (p.Pro130Ala) c.296-50C>G (n.296-50C>G) c.199C>G (p.Pro67Ala) c.529C>G (p.Pro177Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.53950871G= | CA2137817952 | BMP4 | c.388C= (p.Pro130=) c.296-50C= (n.296-50C=) c.199C= (p.Pro67=) c.529C= (p.Pro177=) | |
| 14 | g.53950871G>T | CA389784816 | BMP4 | c.388C>A (p.Pro130Thr) c.296-50C>A (n.296-50C>A) c.199C>A (p.Pro67Thr) c.529C>A (p.Pro177Thr) | gnomAD v4 |
| 14 | g.53950872G>A | CA486658739 | BMP4 | c.387C>T (p.Ile129=) c.296-51C>T (n.296-51C>T) c.198C>T (p.Ile66=) c.528C>T (p.Ile176=) | |
| 14 | g.53950872G>C | CA389784817 | BMP4 | c.387C>G (p.Ile129Met) c.296-51C>G (n.296-51C>G) c.198C>G (p.Ile66Met) c.528C>G (p.Ile176Met) | |
| 14 | g.53950872G>T | CA486658740 | BMP4 | c.387C>A (p.Ile129=) c.296-51C>A (n.296-51C>A) c.198C>A (p.Ile66=) c.528C>A (p.Ile176=) | gnomAD v4 |
| 14 | g.53950873A>C | CA389784818 | BMP4 | c.386T>G (p.Ile129Ser) c.296-52T>G (n.296-52T>G) c.197T>G (p.Ile66Ser) c.527T>G (p.Ile176Ser) | |
| 14 | g.53950873A>G | CA389784819 | BMP4 | c.386T>C (p.Ile129Thr) c.296-52T>C (n.296-52T>C) c.197T>C (p.Ile66Thr) c.527T>C (p.Ile176Thr) | |
| 14 | g.53950873A>T | CA389784820 | BMP4 | c.386T>A (p.Ile129Asn) c.296-52T>A (n.296-52T>A) c.197T>A (p.Ile66Asn) c.527T>A (p.Ile176Asn) | |
| 14 | g.53950874T>A | CA389784822 | BMP4 | c.385A>T (p.Ile129Phe) c.296-53A>T (n.296-53A>T) c.196A>T (p.Ile66Phe) c.526A>T (p.Ile176Phe) | |
| 14 | g.53950874T>C | CA389784823 | BMP4 | c.385A>G (p.Ile129Val) c.296-53A>G (n.296-53A>G) c.196A>G (p.Ile66Val) c.526A>G (p.Ile176Val) | gnomAD v4 |
| 14 | g.53950874T>G | CA389784821 | BMP4 | c.385A>C (p.Ile129Leu) c.296-53A>C (n.296-53A>C) c.196A>C (p.Ile66Leu) c.526A>C (p.Ile176Leu) | |
| 14 | g.53950875G>A | CA486658179 | BMP4 | c.384C>T (p.Asn128=) c.296-54C>T (n.296-54C>T) c.195C>T (p.Asn65=) c.525C>T (p.Asn175=) | gnomAD v4 |
| 14 | g.53950875G>C | CA389784824 | BMP4 | c.384C>G (p.Asn128Lys) c.296-54C>G (n.296-54C>G) c.195C>G (p.Asn65Lys) c.525C>G (p.Asn175Lys) | |
| 14 | g.53950875G>T | CA389784825 | BMP4 | c.384C>A (p.Asn128Lys) c.296-54C>A (n.296-54C>A) c.195C>A (p.Asn65Lys) c.525C>A (p.Asn175Lys) | gnomAD v4 |
| 14 | g.53950876T>A | CA389784826 | BMP4 | c.383A>T (p.Asn128Ile) c.296-55A>T (n.296-55A>T) c.194A>T (p.Asn65Ile) c.524A>T (p.Asn175Ile) | |
| 14 | g.53950876T>C | CA389784827 | BMP4 | c.383A>G (p.Asn128Ser) c.296-55A>G (n.296-55A>G) c.194A>G (p.Asn65Ser) c.524A>G (p.Asn175Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950876T>G | CA389784828 | BMP4 | c.383A>C (p.Asn128Thr) c.296-55A>C (n.296-55A>C) c.194A>C (p.Asn65Thr) c.524A>C (p.Asn175Thr) | |
| 14 | g.53950876T= | CA2137817956 | BMP4 | c.383A= (p.Asn128=) c.296-55A= (n.296-55A=) c.194A= (p.Asn65=) c.524A= (p.Asn175=) | |
| 14 | g.53950877T>A | CA389784829 | BMP4 | c.382A>T (p.Asn128Tyr) c.296-56A>T (n.296-56A>T) c.193A>T (p.Asn65Tyr) c.523A>T (p.Asn175Tyr) | |
| 14 | g.53950877T>C | CA389784830 | BMP4 | c.382A>G (p.Asn128Asp) c.296-56A>G (n.296-56A>G) c.193A>G (p.Asn65Asp) c.523A>G (p.Asn175Asp) | |
| 14 | g.53950877T>G | CA389784831 | BMP4 | c.382A>C (p.Asn128His) c.296-56A>C (n.296-56A>C) c.193A>C (p.Asn65His) c.523A>C (p.Asn175His) | |
| 14 | g.53950878C>A | CA389784832 | BMP4 | c.381G>T (p.Glu127Asp) c.296-57G>T (n.296-57G>T) c.192G>T (p.Glu64Asp) c.522G>T (p.Glu174Asp) | |
| 14 | g.53950878C>G | CA389784833 | BMP4 | c.381G>C (p.Glu127Asp) c.296-57G>C (n.296-57G>C) c.192G>C (p.Glu64Asp) c.522G>C (p.Glu174Asp) | |
| 14 | g.53950878C>T | CA486658185 | BMP4 | c.381G>A (p.Glu127=) c.296-57G>A (n.296-57G>A) c.192G>A (p.Glu64=) c.522G>A (p.Glu174=) | |
| 14 | g.53950879T>A | CA389784834 | BMP4 | c.380A>T (p.Glu127Val) c.296-58A>T (n.296-58A>T) c.191A>T (p.Glu64Val) c.521A>T (p.Glu174Val) | |
| 14 | g.53950879T>C | CA389784835 | BMP4 | c.380A>G (p.Glu127Gly) c.296-58A>G (n.296-58A>G) c.191A>G (p.Glu64Gly) c.521A>G (p.Glu174Gly) | |
| 14 | g.53950879T>G | CA389784836 | BMP4 | c.380A>C (p.Glu127Ala) c.296-58A>C (n.296-58A>C) c.191A>C (p.Glu64Ala) c.521A>C (p.Glu174Ala) | |
| 14 | g.53950880C>A | CA389784839 | BMP4 | c.379G>T (p.Glu127Ter) c.296-59G>T (n.296-59G>T) c.190G>T (p.Glu64Ter) c.520G>T (p.Glu174Ter) | |
| 14 | g.53950880C>G | CA389784838 | BMP4 | c.379G>C (p.Glu127Gln) c.296-59G>C (n.296-59G>C) c.190G>C (p.Glu64Gln) c.520G>C (p.Glu174Gln) | |
| 14 | g.53950880C>T | CA389784837 | BMP4 | c.379G>A (p.Glu127Lys) c.296-59G>A (n.296-59G>A) c.190G>A (p.Glu64Lys) c.520G>A (p.Glu174Lys) | gnomAD v4 |
| 14 | g.53950881C>A | CA486658189 | BMP4 | c.378G>T (p.Leu126=) c.296-60G>T (n.296-60G>T) c.189G>T (p.Leu63=) c.519G>T (p.Leu173=) | |
| 14 | g.53950881C= | CA2137817960 | BMP4 | c.378G= (p.Leu126=) c.296-60G= (n.296-60G=) c.189G= (p.Leu63=) c.519G= (p.Leu173=) | |
| 14 | g.53950881C>G | CA486658190 | BMP4 | c.378G>C (p.Leu126=) c.296-60G>C (n.296-60G>C) c.189G>C (p.Leu63=) c.519G>C (p.Leu173=) | |
| 14 | g.53950881C>T | CA486658191 | BMP4 | c.378G>A (p.Leu126=) c.296-60G>A (n.296-60G>A) c.189G>A (p.Leu63=) c.519G>A (p.Leu173=) | dbSNP gnomAD v2 |
| 14 | g.53950882A= | CA2137817964 | BMP4 | c.377T= (p.Leu126=) c.296-61T= (n.296-61T=) c.188T= (p.Leu63=) c.518T= (p.Leu173=) | |
| 14 | g.53950882A>C | CA389784840 | BMP4 | c.377T>G (p.Leu126Arg) c.296-61T>G (n.296-61T>G) c.188T>G (p.Leu63Arg) c.518T>G (p.Leu173Arg) | |
| 14 | g.53950882A>G | CA389784841 | BMP4 | c.377T>C (p.Leu126Pro) c.296-61T>C (n.296-61T>C) c.188T>C (p.Leu63Pro) c.518T>C (p.Leu173Pro) | |
| 14 | g.53950882A>T | CA389784842 | BMP4 | c.377T>A (p.Leu126Gln) c.296-61T>A (n.296-61T>A) c.188T>A (p.Leu63Gln) c.518T>A (p.Leu173Gln) | dbSNP |
| 14 | g.53950883G>A | CA486658197 | BMP4 | c.376C>T (p.Leu126=) c.296-62C>T (n.296-62C>T) c.187C>T (p.Leu63=) c.517C>T (p.Leu173=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.53950883G>C | CA389784843 | BMP4 | c.376C>G (p.Leu126Val) c.296-62C>G (n.296-62C>G) c.187C>G (p.Leu63Val) c.517C>G (p.Leu173Val) | |
| 14 | g.53950883G= | CA2137817969 | BMP4 | c.376C= (p.Leu126=) c.296-62C= (n.296-62C=) c.187C= (p.Leu63=) c.517C= (p.Leu173=) | |
| 14 | g.53950883G>T | CA389784844 | BMP4 | c.376C>A (p.Leu126Met) c.296-62C>A (n.296-62C>A) c.187C>A (p.Leu63Met) c.517C>A (p.Leu173Met) | |
| 14 | g.53950884A>C | CA389784845 | BMP4 | c.375T>G (p.His125Gln) c.296-63T>G (n.296-63T>G) c.186T>G (p.His62Gln) c.516T>G (p.His172Gln) | |
| 14 | g.53950884A>G | CA486658204 | BMP4 | c.375T>C (p.His125=) c.296-63T>C (n.296-63T>C) c.186T>C (p.His62=) c.516T>C (p.His172=) | |
| 14 | g.53950884A>T | CA389784846 | BMP4 | c.375T>A (p.His125Gln) c.296-63T>A (n.296-63T>A) c.186T>A (p.His62Gln) c.516T>A (p.His172Gln) | |
| 14 | g.53950885T>A | CA389784847 | BMP4 | c.374A>T (p.His125Leu) c.296-64A>T (n.296-64A>T) c.185A>T (p.His62Leu) c.515A>T (p.His172Leu) | |
| 14 | g.53950885T>C | CA389784848 | BMP4 | c.374A>G (p.His125Arg) c.296-64A>G (n.296-64A>G) c.185A>G (p.His62Arg) c.515A>G (p.His172Arg) | |
| 14 | g.53950885T>G | CA389784849 | BMP4 | c.374A>C (p.His125Pro) c.296-64A>C (n.296-64A>C) c.185A>C (p.His62Pro) c.515A>C (p.His172Pro) | |
| 14 | g.53950886G>A | CA7191742 | BMP4 | c.373C>T (p.His125Tyr) c.296-65C>T (n.296-65C>T) c.184C>T (p.His62Tyr) c.514C>T (p.His172Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.53950886G>C | CA389784850 | BMP4 | c.373C>G (p.His125Asp) c.296-65C>G (n.296-65C>G) c.184C>G (p.His62Asp) c.514C>G (p.His172Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.53950886G= | CA2137817972 | BMP4 | c.373C= (p.His125=) c.296-65C= (n.296-65C=) c.184C= (p.His62=) c.514C= (p.His172=) | |
| 14 | g.53950886G>T | CA389784851 | BMP4 | c.373C>A (p.His125Asn) c.296-65C>A (n.296-65C>A) c.184C>A (p.His62Asn) c.514C>A (p.His172Asn) | gnomAD v4 |
| 14 | g.53950887T>A | CA389784852 | BMP4 | c.372A>T (p.Glu124Asp) c.296-66A>T (n.296-66A>T) c.183A>T (p.Glu61Asp) c.513A>T (p.Glu171Asp) | |
| 14 | g.53950887T>C | CA486658207 | BMP4 | c.372A>G (p.Glu124=) c.296-66A>G (n.296-66A>G) c.183A>G (p.Glu61=) c.513A>G (p.Glu171=) | |
| 14 | g.53950887T>G | CA389784853 | BMP4 | c.372A>C (p.Glu124Asp) c.296-66A>C (n.296-66A>C) c.183A>C (p.Glu61Asp) c.513A>C (p.Glu171Asp) | |
| 14 | g.53950888T>A | CA389784854 | BMP4 | c.371A>T (p.Glu124Val) c.296-67A>T (n.296-67A>T) c.182A>T (p.Glu61Val) c.512A>T (p.Glu171Val) | |
| 14 | g.53950888T>C | CA389784856 | BMP4 | c.371A>G (p.Glu124Gly) c.296-67A>G (n.296-67A>G) c.182A>G (p.Glu61Gly) c.512A>G (p.Glu171Gly) | |
| 14 | g.53950888T>G | CA389784855 | BMP4 | c.371A>C (p.Glu124Ala) c.296-67A>C (n.296-67A>C) c.182A>C (p.Glu61Ala) c.512A>C (p.Glu171Ala) | |
| 14 | g.53950889C>A | CA389784857 | BMP4 | c.371-1G>T (n.371-1G>T) c.296-68G>T (n.296-68G>T) c.182-1G>T (n.182-1G>T) c.512-1G>T (n.512-1G>T) | gnomAD v4 |
| 14 | g.53950889C>G | CA389784858 | BMP4 | c.371-1G>C (n.371-1G>C) c.296-68G>C (n.296-68G>C) c.182-1G>C (n.182-1G>C) c.512-1G>C (n.512-1G>C) | |
| 14 | g.53950889C>T | CA389784859 | BMP4 | c.371-1G>A (n.371-1G>A) c.296-68G>A (n.296-68G>A) c.182-1G>A (n.182-1G>A) c.512-1G>A (n.512-1G>A) | |
| 14 | g.53950890T>A | CA389784860 | BMP4 | c.371-2A>T (n.371-2A>T) c.296-69A>T (n.296-69A>T) c.182-2A>T (n.182-2A>T) c.512-2A>T (n.512-2A>T) | |
| 14 | g.53950890T>C | CA389784861 | BMP4 | c.371-2A>G (n.371-2A>G) c.296-69A>G (n.296-69A>G) c.182-2A>G (n.182-2A>G) c.512-2A>G (n.512-2A>G) | |
| 14 | g.53950890T>G | CA389784862 | BMP4 | c.371-2A>C (n.371-2A>C) c.296-69A>C (n.296-69A>C) c.182-2A>C (n.182-2A>C) c.512-2A>C (n.512-2A>C) | |
| 14 | g.53950892G>C | CA963264535 | BMP4 | c.371-4C>G (n.371-4C>G) c.296-71C>G (n.296-71C>G) c.182-4C>G (n.182-4C>G) c.512-4C>G (n.512-4C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.53950892G= | CA2137817975 | BMP4 | c.371-4C= (n.371-4C=) c.296-71C= (n.296-71C=) c.182-4C= (n.182-4C=) c.512-4C= (n.512-4C=) | |
| 14 | g.53950893G>A | CA2624918046 | BMP4 | c.371-5C>T (n.371-5C>T) c.296-72C>T (n.296-72C>T) c.182-5C>T (n.182-5C>T) c.512-5C>T (n.512-5C>T) | gnomAD v4 |
| 14 | g.53950893G>T | CA2624918047 | BMP4 | c.371-5C>A (n.371-5C>A) c.296-72C>A (n.296-72C>A) c.182-5C>A (n.182-5C>A) c.512-5C>A (n.512-5C>A) | gnomAD v4 |
| 14 | g.53950894C= | CA2137817977 | BMP4 | c.371-6G= (n.371-6G=) c.296-73G= (n.296-73G=) c.182-6G= (n.182-6G=) c.512-6G= (n.512-6G=) | |
| 14 | g.53950894C>T | CA261472686 | BMP4 | c.371-6G>A (n.371-6G>A) c.296-73G>A (n.296-73G>A) c.182-6G>A (n.182-6G>A) c.512-6G>A (n.512-6G>A) | dbSNP |
| 14 | g.53950896C>A | CA2624918048 | BMP4 | c.371-8G>T (n.371-8G>T) c.296-75G>T (n.296-75G>T) c.182-8G>T (n.182-8G>T) c.512-8G>T (n.512-8G>T) | gnomAD v4 |
| 14 | g.53950896C= | CA2137817983 | BMP4 | c.371-8G= (n.371-8G=) c.296-75G= (n.296-75G=) c.182-8G= (n.182-8G=) c.512-8G= (n.512-8G=) | |
| 14 | g.53950896C>G | CA706828239 | BMP4 | c.371-8G>C (n.371-8G>C) c.296-75G>C (n.296-75G>C) c.182-8G>C (n.182-8G>C) c.512-8G>C (n.512-8G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.53950896C>T | CA614278087 | BMP4 | c.371-8G>A (n.371-8G>A) c.296-75G>A (n.296-75G>A) c.182-8G>A (n.182-8G>A) c.512-8G>A (n.512-8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950897A= | CA2137817985 | BMP4 | c.371-9T= (n.371-9T=) c.296-76T= (n.296-76T=) c.182-9T= (n.182-9T=) c.512-9T= (n.512-9T=) | |
| 14 | g.53950897A>G | CA614278088 | BMP4 | c.371-9T>C (n.371-9T>C) c.296-76T>C (n.296-76T>C) c.182-9T>C (n.182-9T>C) c.512-9T>C (n.512-9T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950899T>A | CA2624918049 | BMP4 | c.371-11A>T (n.371-11A>T) c.296-78A>T (n.296-78A>T) c.182-11A>T (n.182-11A>T) c.512-11A>T (n.512-11A>T) | gnomAD v4 |
| 14 | g.53950900T>C | CA614278089 | BMP4 | c.371-12A>G (n.371-12A>G) c.296-79A>G (n.296-79A>G) c.182-12A>G (n.182-12A>G) c.512-12A>G (n.512-12A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.53950900T= | CA2137817986 | BMP4 | c.371-12A= (n.371-12A=) c.296-79A= (n.296-79A=) c.182-12A= (n.182-12A=) c.512-12A= (n.512-12A=) | |
| 14 | g.53950903G>A | CA614278090 | BMP4 | c.371-15C>T (n.371-15C>T) c.296-82C>T (n.296-82C>T) c.182-15C>T (n.182-15C>T) c.512-15C>T (n.512-15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950903G= | CA2137817988 | BMP4 | c.371-15C= (n.371-15C=) c.296-82C= (n.296-82C=) c.182-15C= (n.182-15C=) c.512-15C= (n.512-15C=) | |
| 14 | g.53950904A>C | CA2624918050 | BMP4 | c.371-16T>G (n.371-16T>G) c.296-83T>G (n.296-83T>G) c.182-16T>G (n.182-16T>G) c.512-16T>G (n.512-16T>G) | gnomAD v4 |
| 14 | g.53950905A>C | CA2624918051 | BMP4 | c.371-17T>G (n.371-17T>G) c.296-84T>G (n.296-84T>G) c.182-17T>G (n.182-17T>G) c.512-17T>G (n.512-17T>G) | gnomAD v4 |
| 14 | g.53950905_53950906insTTGTGGTGGACCAGTCTCGTGTCCAGTAGTCGTGTGATGAGGTGCCCAGGCACCACTTCTGCTG | CA2624918052 | BMP4 | c.371-18_371-17insCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAA (n.371-18_371-17insCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAA) c.296-85_296-84insCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAA (n.296-85_296-84insCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAA) c.182-18_182-17insCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAA (n.182-18_182-17insCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAA) c.512-18_512-17insCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAA (n.512-18_512-17insCAGCAGAAGTGGTGCCTGGGCACCTCATCACACGACTACTGGACACGAGACTGGTCCACCACAA) | gnomAD v4 |
| 14 | g.53950906G>A | CA2137817992 | BMP4 | c.371-18C>T (n.371-18C>T) c.296-85C>T (n.296-85C>T) c.182-18C>T (n.182-18C>T) c.512-18C>T (n.512-18C>T) | dbSNP gnomAD v4 |
| 14 | g.53950906G= | CA2137817990 | BMP4 | c.371-18C= (n.371-18C=) c.296-85C= (n.296-85C=) c.182-18C= (n.182-18C=) c.512-18C= (n.512-18C=) | |
| 14 | g.53950910G>C | CA2624918053 | BMP4 | c.371-22C>G (n.371-22C>G) c.296-89C>G (n.296-89C>G) c.182-22C>G (n.182-22C>G) c.512-22C>G (n.512-22C>G) | gnomAD v4 |
| 14 | g.53950911G>A | CA2137817995 | BMP4 | c.371-23C>T (n.371-23C>T) c.296-90C>T (n.296-90C>T) c.182-23C>T (n.182-23C>T) c.512-23C>T (n.512-23C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.53950911G>C | CA2575530820 | BMP4 | c.371-23C>G (n.371-23C>G) c.296-90C>G (n.296-90C>G) c.182-23C>G (n.182-23C>G) c.512-23C>G (n.512-23C>G) | |
| 14 | g.53950911G= | CA2137817994 | BMP4 | c.371-23C= (n.371-23C=) c.296-90C= (n.296-90C=) c.182-23C= (n.182-23C=) c.512-23C= (n.512-23C=) | |
| 14 | g.53950912G>A | CA7191743 | BMP4 | c.371-24C>T (n.371-24C>T) c.296-91C>T (n.296-91C>T) c.182-24C>T (n.182-24C>T) c.512-24C>T (n.512-24C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950912G>C | CA2581169935 | BMP4 | c.371-24C>G (n.371-24C>G) c.296-91C>G (n.296-91C>G) c.182-24C>G (n.182-24C>G) c.512-24C>G (n.512-24C>G) | |
| 14 | g.53950912G= | CA2137817997 | BMP4 | c.371-24C= (n.371-24C=) c.296-91C= (n.296-91C=) c.182-24C= (n.182-24C=) c.512-24C= (n.512-24C=) | |
| 14 | g.53950912G>T | CA2581169934 | BMP4 | c.371-24C>A (n.371-24C>A) c.296-91C>A (n.296-91C>A) c.182-24C>A (n.182-24C>A) c.512-24C>A (n.512-24C>A) | |
| 14 | g.53950913G= | CA2137818001 | BMP4 | c.371-25C= (n.371-25C=) c.296-92C= (n.296-92C=) c.182-25C= (n.182-25C=) c.512-25C= (n.512-25C=) | |
| 14 | g.53950913G>T | CA7191744 | BMP4 | c.371-25C>A (n.371-25C>A) c.296-92C>A (n.296-92C>A) c.182-25C>A (n.182-25C>A) c.512-25C>A (n.512-25C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.53950917del | CA2624918054 | BMP4 | c.371-26del (n.371-26del) c.296-93del (n.296-93del) c.182-26del (n.182-26del) c.512-26del (n.512-26del) | gnomAD v4 |