Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.6778468A=CA2348112131BMP2c.570A= (p.Arg190=)
c.102A= (p.Arg34=)
20g.6778468A>CCA408258626BMP2c.570A>C (p.Arg190Ser)
c.102A>C (p.Arg34Ser)
20g.6778468A>GCA509817765BMP2c.570A>G (p.Arg190=)
c.102A>G (p.Arg34=)
dbSNP
20g.6778468A>TCA202297BMP2c.570A>T (p.Arg190Ser)
c.102A>T (p.Arg34Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778469C>ACA408258627BMP2c.571C>A (p.Leu191Ile)
c.103C>A (p.Leu35Ile)
20g.6778469C>GCA408258628BMP2c.571C>G (p.Leu191Val)
c.103C>G (p.Leu35Val)
20g.6778469C>TCA408258629BMP2c.571C>T (p.Leu191Phe)
c.103C>T (p.Leu35Phe)
20g.6778470T>ACA408258631BMP2c.572T>A (p.Leu191His)
c.104T>A (p.Leu35His)
20g.6778470T>CCA408258632BMP2c.572T>C (p.Leu191Pro)
c.104T>C (p.Leu35Pro)
20g.6778470T>GCA408258630BMP2c.572T>G (p.Leu191Arg)
c.104T>G (p.Leu35Arg)
20g.6778471T>ACA509817767BMP2c.573T>A (p.Leu191=)
c.105T>A (p.Leu35=)
20g.6778471T>CCA509817769BMP2c.573T>C (p.Leu191=)
c.105T>C (p.Leu35=)
gnomAD v4
20g.6778471T>GCA509817768BMP2c.573T>G (p.Leu191=)
c.105T>G (p.Leu35=)
20g.6778472T>ACA408258633BMP2c.574T>A (p.Leu192Met)
c.106T>A (p.Leu36Met)
20g.6778472T>CCA9758706BMP2c.574T>C (p.Leu192=)
c.106T>C (p.Leu36=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778472T>GCA408258634BMP2c.574T>G (p.Leu192Val)
c.106T>G (p.Leu36Val)
20g.6778472T=CA2348112132BMP2c.574T= (p.Leu192=)
c.106T= (p.Leu36=)
20g.6778473T>ACA408258635BMP2c.575T>A (p.Leu192Ter)
c.107T>A (p.Leu36Ter)
20g.6778473T>CCA408258636BMP2c.575T>C (p.Leu192Ser)
c.107T>C (p.Leu36Ser)
20g.6778473T>GCA408258637BMP2c.575T>G (p.Leu192Trp)
c.107T>G (p.Leu36Trp)
20g.6778474G>ACA509817773BMP2c.576G>A (p.Leu192=)
c.108G>A (p.Leu36=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778474G>CCA408258638BMP2c.576G>C (p.Leu192Phe)
c.108G>C (p.Leu36Phe)
20g.6778474G=CA2348112133BMP2c.576G= (p.Leu192=)
c.108G= (p.Leu36=)
20g.6778474G>TCA408258639BMP2c.576G>T (p.Leu192Phe)
c.108G>T (p.Leu36Phe)
20g.6778475G>ACA408258640BMP2c.577G>A (p.Asp193Asn)
c.109G>A (p.Asp37Asn)
20g.6778475G>CCA408258641BMP2c.577G>C (p.Asp193His)
c.109G>C (p.Asp37His)
20g.6778475G>TCA408258642BMP2c.577G>T (p.Asp193Tyr)
c.109G>T (p.Asp37Tyr)
20g.6778476A>CCA408258643BMP2c.578A>C (p.Asp193Ala)
c.110A>C (p.Asp37Ala)
20g.6778476A>GCA408258644BMP2c.578A>G (p.Asp193Gly)
c.110A>G (p.Asp37Gly)
20g.6778476A>TCA408258645BMP2c.578A>T (p.Asp193Val)
c.110A>T (p.Asp37Val)
20g.6778477C>ACA408258647BMP2c.579C>A (p.Asp193Glu)
c.111C>A (p.Asp37Glu)
20g.6778477C>GCA408258646BMP2c.579C>G (p.Asp193Glu)
c.111C>G (p.Asp37Glu)
20g.6778477C>TCA509817778BMP2c.579C>T (p.Asp193=)
c.111C>T (p.Asp37=)
20g.6778478A>CCA408258648BMP2c.580A>C (p.Thr194Pro)
c.112A>C (p.Thr38Pro)
20g.6778478A>GCA408258649BMP2c.580A>G (p.Thr194Ala)
c.112A>G (p.Thr38Ala)
20g.6778478A>TCA408258650BMP2c.580A>T (p.Thr194Ser)
c.112A>T (p.Thr38Ser)
20g.6778479C>ACA408258651BMP2c.581C>A (p.Thr194Asn)
c.113C>A (p.Thr38Asn)
dbSNP gnomAD v3 gnomAD v4
20g.6778479C=CA2348112134BMP2c.581C= (p.Thr194=)
c.113C= (p.Thr38=)
20g.6778479C>GCA408258652BMP2c.581C>G (p.Thr194Ser)
c.113C>G (p.Thr38Ser)
20g.6778479C>TCA408258653BMP2c.581C>T (p.Thr194Ile)
c.113C>T (p.Thr38Ile)
20g.6778480C>ACA509817780BMP2c.582C>A (p.Thr194=)
c.114C>A (p.Thr38=)
gnomAD v4
20g.6778480C>GCA509817781BMP2c.582C>G (p.Thr194=)
c.114C>G (p.Thr38=)
20g.6778480C>TCA509817782BMP2c.582C>T (p.Thr194=)
c.114C>T (p.Thr38=)
20g.6778481A>CCA509817783BMP2c.583A>C (p.Arg195=)
c.115A>C (p.Arg39=)
gnomAD v4
20g.6778481A>GCA408258654BMP2c.583A>G (p.Arg195Gly)
c.115A>G (p.Arg39Gly)
20g.6778481A>TCA408258655BMP2c.583A>T (p.Arg195Trp)
c.115A>T (p.Arg39Trp)
20g.6778482G>ACA311471921BMP2c.584G>A (p.Arg195Lys)
c.116G>A (p.Arg39Lys)
dbSNP gnomAD v4 COSMIC
20g.6778482G>CCA408258657BMP2c.584G>C (p.Arg195Thr)
c.116G>C (p.Arg39Thr)
gnomAD v4
20g.6778482G=CA2348112135BMP2c.584G= (p.Arg195=)
c.116G= (p.Arg39=)
20g.6778482G>TCA408258656BMP2c.584G>T (p.Arg195Met)
c.116G>T (p.Arg39Met)
20g.6778483G>ACA311471922BMP2c.585G>A (p.Arg195=)
c.117G>A (p.Arg39=)
dbSNP
20g.6778483G>CCA408258658BMP2c.585G>C (p.Arg195Ser)
c.117G>C (p.Arg39Ser)
20g.6778483G=CA2348112136BMP2c.585G= (p.Arg195=)
c.117G= (p.Arg39=)
20g.6778483G>TCA408258659BMP2c.585G>T (p.Arg195Ser)
c.117G>T (p.Arg39Ser)
20g.6778484T>ACA408258660BMP2c.586T>A (p.Leu196Met)
c.118T>A (p.Leu40Met)
20g.6778484T>CCA509817785BMP2c.586T>C (p.Leu196=)
c.118T>C (p.Leu40=)
20g.6778484T>GCA408258661BMP2c.586T>G (p.Leu196Val)
c.118T>G (p.Leu40Val)
20g.6778485T>ACA408258662BMP2c.587T>A (p.Leu196Ter)
c.119T>A (p.Leu40Ter)
20g.6778485T>CCA408258664BMP2c.587T>C (p.Leu196Ser)
c.119T>C (p.Leu40Ser)
20g.6778485T>GCA408258663BMP2c.587T>G (p.Leu196Trp)
c.119T>G (p.Leu40Trp)
20g.6778486G>ACA509817786BMP2c.588G>A (p.Leu196=)
c.120G>A (p.Leu40=)
20g.6778486G>CCA408258665BMP2c.588G>C (p.Leu196Phe)
c.120G>C (p.Leu40Phe)
gnomAD v4
20g.6778486G>TCA408258666BMP2c.588G>T (p.Leu196Phe)
c.120G>T (p.Leu40Phe)
20g.6778487G>ACA408258667BMP2c.589G>A (p.Val197Met)
c.121G>A (p.Val41Met)
dbSNP gnomAD v3 gnomAD v4
20g.6778487G>CCA9758707BMP2c.589G>C (p.Val197Leu)
c.121G>C (p.Val41Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778487G=CA2348112137BMP2c.589G= (p.Val197=)
c.121G= (p.Val41=)
20g.6778487G>TCA408258669BMP2c.589G>T (p.Val197Leu)
c.121G>T (p.Val41Leu)
dbSNP
20g.6778488T>ACA408258670BMP2c.590T>A (p.Val197Glu)
c.122T>A (p.Val41Glu)
20g.6778488T>CCA408258671BMP2c.590T>C (p.Val197Ala)
c.122T>C (p.Val41Ala)
20g.6778488T>GCA408258672BMP2c.590T>G (p.Val197Gly)
c.122T>G (p.Val41Gly)
20g.6778489G>ACA9758708BMP2c.591G>A (p.Val197=)
c.123G>A (p.Val41=)
dbSNP ExAC gnomAD v2
20g.6778489G>CCA509817787BMP2c.591G>C (p.Val197=)
c.123G>C (p.Val41=)
20g.6778489G=CA2348112138BMP2c.591G= (p.Val197=)
c.123G= (p.Val41=)
20g.6778489G>TCA509817789BMP2c.591G>T (p.Val197=)
c.123G>T (p.Val41=)
20g.6778490A>CCA408258673BMP2c.592A>C (p.Asn198His)
c.124A>C (p.Asn42His)
20g.6778490A>GCA408258674BMP2c.592A>G (p.Asn198Asp)
c.124A>G (p.Asn42Asp)
20g.6778490A>TCA408258675BMP2c.592A>T (p.Asn198Tyr)
c.124A>T (p.Asn42Tyr)
20g.6778491A>CCA408258678BMP2c.593A>C (p.Asn198Thr)
c.125A>C (p.Asn42Thr)
20g.6778491A>GCA408258676BMP2c.593A>G (p.Asn198Ser)
c.125A>G (p.Asn42Ser)
20g.6778491A>TCA408258677BMP2c.593A>T (p.Asn198Ile)
c.125A>T (p.Asn42Ile)
20g.6778492T>ACA408258679BMP2c.594T>A (p.Asn198Lys)
c.126T>A (p.Asn42Lys)
20g.6778492T>CCA509817794BMP2c.594T>C (p.Asn198=)
c.126T>C (p.Asn42=)
20g.6778492T>GCA408258680BMP2c.594T>G (p.Asn198Lys)
c.126T>G (p.Asn42Lys)
20g.6778493C>ACA408258681BMP2c.595C>A (p.Gln199Lys)
c.127C>A (p.Gln43Lys)
20g.6778493C>GCA408258682BMP2c.595C>G (p.Gln199Glu)
c.127C>G (p.Gln43Glu)
20g.6778493C>TCA408258683BMP2c.595C>T (p.Gln199Ter)
c.127C>T (p.Gln43Ter)
20g.6778494A>CCA408258684BMP2c.596A>C (p.Gln199Pro)
c.128A>C (p.Gln43Pro)
20g.6778494A>GCA408258685BMP2c.596A>G (p.Gln199Arg)
c.128A>G (p.Gln43Arg)
20g.6778494A>TCA408258686BMP2c.596A>T (p.Gln199Leu)
c.128A>T (p.Gln43Leu)
20g.6778495G>ACA9758709BMP2c.597G>A (p.Gln199=)
c.129G>A (p.Gln43=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778495G>CCA408258687BMP2c.597G>C (p.Gln199His)
c.129G>C (p.Gln43His)
20g.6778495G=CA2348112139BMP2c.597G= (p.Gln199=)
c.129G= (p.Gln43=)
20g.6778495G>TCA408258688BMP2c.597G>T (p.Gln199His)
c.129G>T (p.Gln43His)
20g.6778496A>CCA408258689BMP2c.598A>C (p.Asn200His)
c.130A>C (p.Asn44His)
20g.6778496A>GCA408258690BMP2c.598A>G (p.Asn200Asp)
c.130A>G (p.Asn44Asp)
20g.6778496A>TCA408258691BMP2c.598A>T (p.Asn200Tyr)
c.130A>T (p.Asn44Tyr)
20g.6778497A>CCA408258693BMP2c.599A>C (p.Asn200Thr)
c.131A>C (p.Asn44Thr)
20g.6778497A>GCA408258694BMP2c.599A>G (p.Asn200Ser)
c.131A>G (p.Asn44Ser)
20g.6778497A>TCA408258692BMP2c.599A>T (p.Asn200Ile)
c.131A>T (p.Asn44Ile)
20g.6778498T>ACA408258695BMP2c.600T>A (p.Asn200Lys)
c.132T>A (p.Asn44Lys)
dbSNP gnomAD v2 gnomAD v4
20g.6778498T>CCA509817807BMP2c.600T>C (p.Asn200=)
c.132T>C (p.Asn44=)
20g.6778498T>GCA408258696BMP2c.600T>G (p.Asn200Lys)
c.132T>G (p.Asn44Lys)
gnomAD v4
20g.6778498T=CA2348112140BMP2c.600T= (p.Asn200=)
c.132T= (p.Asn44=)
20g.6778499G>ACA408258697BMP2c.601G>A (p.Ala201Thr)
c.133G>A (p.Ala45Thr)
20g.6778499G>CCA408258698BMP2c.601G>C (p.Ala201Pro)
c.133G>C (p.Ala45Pro)
20g.6778499G>TCA408258699BMP2c.601G>T (p.Ala201Ser)
c.133G>T (p.Ala45Ser)
20g.6778500C>ACA408258702BMP2c.602C>A (p.Ala201Glu)
c.134C>A (p.Ala45Glu)
20g.6778500C>GCA408258700BMP2c.602C>G (p.Ala201Gly)
c.134C>G (p.Ala45Gly)
20g.6778500C>TCA408258701BMP2c.602C>T (p.Ala201Val)
c.134C>T (p.Ala45Val)
20g.6778501A>CCA509817814BMP2c.603A>C (p.Ala201=)
c.135A>C (p.Ala45=)
20g.6778501A>GCA509817813BMP2c.603A>G (p.Ala201=)
c.135A>G (p.Ala45=)
20g.6778501A>TCA509817812BMP2c.603A>T (p.Ala201=)
c.135A>T (p.Ala45=)
20g.6778502A=CA2348112141BMP2c.604A= (p.Ser202=)
c.136A= (p.Ser46=)
20g.6778502A>CCA408258703BMP2c.604A>C (p.Ser202Arg)
c.136A>C (p.Ser46Arg)
20g.6778502A>GCA9758710BMP2c.604A>G (p.Ser202Gly)
c.136A>G (p.Ser46Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778502A>TCA408258704BMP2c.604A>T (p.Ser202Cys)
c.136A>T (p.Ser46Cys)
20g.6778503G>ACA408258705BMP2c.605G>A (p.Ser202Asn)
c.137G>A (p.Ser46Asn)
dbSNP
20g.6778503G>CCA408258706BMP2c.605G>C (p.Ser202Thr)
c.137G>C (p.Ser46Thr)
20g.6778503G=CA2348112142BMP2c.605G= (p.Ser202=)
c.137G= (p.Ser46=)
20g.6778503G>TCA408258707BMP2c.605G>T (p.Ser202Ile)
c.137G>T (p.Ser46Ile)
20g.6778504C>ACA408258708BMP2c.606C>A (p.Ser202Arg)
c.138C>A (p.Ser46Arg)
20g.6778504C>GCA408258709BMP2c.606C>G (p.Ser202Arg)
c.138C>G (p.Ser46Arg)
20g.6778504C>TCA509817839BMP2c.606C>T (p.Ser202=)
c.138C>T (p.Ser46=)
20g.6778505A=CA2348112143BMP2c.607A= (p.Arg203=)
c.139A= (p.Arg47=)
20g.6778505A>CCA509817840BMP2c.607A>C (p.Arg203=)
c.139A>C (p.Arg47=)
20g.6778505A>GCA408258710BMP2c.607A>G (p.Arg203Gly)
c.139A>G (p.Arg47Gly)
dbSNP gnomAD v4
20g.6778505A>TCA408258711BMP2c.607A>T (p.Arg203Trp)
c.139A>T (p.Arg47Trp)
20g.6778506G>ACA9758711BMP2c.608G>A (p.Arg203Lys)
c.140G>A (p.Arg47Lys)
dbSNP ExAC gnomAD v2
20g.6778506G>CCA408258712BMP2c.608G>C (p.Arg203Thr)
c.140G>C (p.Arg47Thr)
20g.6778506G=CA2348112144BMP2c.608G= (p.Arg203=)
c.140G= (p.Arg47=)
20g.6778506G>TCA408258713BMP2c.608G>T (p.Arg203Met)
c.140G>T (p.Arg47Met)
COSMIC
20g.6778507G>ACA509817846BMP2c.609G>A (p.Arg203=)
c.141G>A (p.Arg47=)
dbSNP gnomAD v4
20g.6778507G>CCA408258714BMP2c.609G>C (p.Arg203Ser)
c.141G>C (p.Arg47Ser)
20g.6778507G=CA2348112145BMP2c.609G= (p.Arg203=)
c.141G= (p.Arg47=)
20g.6778507G>TCA9758712BMP2c.609G>T (p.Arg203Ser)
c.141G>T (p.Arg47Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778508T>ACA408258715BMP2c.610T>A (p.Trp204Arg)
c.142T>A (p.Trp48Arg)
20g.6778508T>CCA408258716BMP2c.610T>C (p.Trp204Arg)
c.142T>C (p.Trp48Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778508T>GCA408258717BMP2c.610T>G (p.Trp204Gly)
c.142T>G (p.Trp48Gly)
20g.6778508T=CA2348112146BMP2c.610T= (p.Trp204=)
c.142T= (p.Trp48=)
20g.6778509G>ACA408258718BMP2c.611G>A (p.Trp204Ter)
c.143G>A (p.Trp48Ter)
20g.6778509G>CCA408258719BMP2c.611G>C (p.Trp204Ser)
c.143G>C (p.Trp48Ser)
20g.6778509G>TCA408258720BMP2c.611G>T (p.Trp204Leu)
c.143G>T (p.Trp48Leu)
20g.6778509_6778522delinsGGGAAAGTTTTGATCA2348112147BMP2c.611_624delinsGGGAAAGTTTTGAT (p.Trp204=)
c.143_156delinsGGGAAAGTTTTGAT (p.Trp48=)
20g.6778510G>ACA408258723BMP2c.612G>A (p.Trp204Ter)
c.144G>A (p.Trp48Ter)
20g.6778510G>CCA408258721BMP2c.612G>C (p.Trp204Cys)
c.144G>C (p.Trp48Cys)
20g.6778510G>TCA408258722BMP2c.612G>T (p.Trp204Cys)
c.144G>T (p.Trp48Cys)
20g.6778511_6778523delCA1139666637BMP2c.613_625del (p.Glu205SerfsTer5)
c.145_157del (p.Glu49SerfsTer5)
ClinVar dbSNP
20g.6778511G>ACA408258724BMP2c.613G>A (p.Glu205Lys)
c.145G>A (p.Glu49Lys)
20g.6778511G>CCA408258725BMP2c.613G>C (p.Glu205Gln)
c.145G>C (p.Glu49Gln)
20g.6778511G>TCA408258726BMP2c.613G>T (p.Glu205Ter)
c.145G>T (p.Glu49Ter)
ClinVar
20g.6778512A>CCA408258727BMP2c.614A>C (p.Glu205Ala)
c.146A>C (p.Glu49Ala)
20g.6778512A>GCA408258728BMP2c.614A>G (p.Glu205Gly)
c.146A>G (p.Glu49Gly)
20g.6778512A>TCA408258729BMP2c.614A>T (p.Glu205Val)
c.146A>T (p.Glu49Val)
20g.6778513A=CA2348112148BMP2c.615A= (p.Glu205=)
c.147A= (p.Glu49=)
20g.6778513A>CCA408258730BMP2c.615A>C (p.Glu205Asp)
c.147A>C (p.Glu49Asp)
20g.6778513A>GCA9758713BMP2c.615A>G (p.Glu205=)
c.147A>G (p.Glu49=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778513A>TCA408258731BMP2c.615A>T (p.Glu205Asp)
c.147A>T (p.Glu49Asp)
20g.6778514A>CCA408258732BMP2c.616A>C (p.Ser206Arg)
c.148A>C (p.Ser50Arg)
gnomAD v4
20g.6778514A>GCA408258733BMP2c.616A>G (p.Ser206Gly)
c.148A>G (p.Ser50Gly)
20g.6778514A>TCA408258734BMP2c.616A>T (p.Ser206Cys)
c.148A>T (p.Ser50Cys)
20g.6778515G>ACA408258735BMP2c.617G>A (p.Ser206Asn)
c.149G>A (p.Ser50Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778515G>CCA408258737BMP2c.617G>C (p.Ser206Thr)
c.149G>C (p.Ser50Thr)
20g.6778515G=CA2348112149BMP2c.617G= (p.Ser206=)
c.149G= (p.Ser50=)
20g.6778515G>TCA408258736BMP2c.617G>T (p.Ser206Ile)
c.149G>T (p.Ser50Ile)
20g.6778516T>ACA408258738BMP2c.618T>A (p.Ser206Arg)
c.150T>A (p.Ser50Arg)
20g.6778516T>CCA509817860BMP2c.618T>C (p.Ser206=)
c.150T>C (p.Ser50=)
gnomAD v4
20g.6778516T>GCA408258739BMP2c.618T>G (p.Ser206Arg)
c.150T>G (p.Ser50Arg)
20g.6778517T>ACA408258740BMP2c.619T>A (p.Phe207Ile)
c.151T>A (p.Phe51Ile)
20g.6778517T>CCA408258742BMP2c.619T>C (p.Phe207Leu)
c.151T>C (p.Phe51Leu)
20g.6778517T>GCA408258741BMP2c.619T>G (p.Phe207Val)
c.151T>G (p.Phe51Val)
20g.6778518T>ACA408258743BMP2c.620T>A (p.Phe207Tyr)
c.152T>A (p.Phe51Tyr)
20g.6778518T>CCA408258744BMP2c.620T>C (p.Phe207Ser)
c.152T>C (p.Phe51Ser)
20g.6778518T>GCA408258745BMP2c.620T>G (p.Phe207Cys)
c.152T>G (p.Phe51Cys)
20g.6778519T>ACA408258746BMP2c.621T>A (p.Phe207Leu)
c.153T>A (p.Phe51Leu)
20g.6778519T>CCA509817867BMP2c.621T>C (p.Phe207=)
c.153T>C (p.Phe51=)
20g.6778519T>GCA408258747BMP2c.621T>G (p.Phe207Leu)
c.153T>G (p.Phe51Leu)
20g.6778520G>ACA408258748BMP2c.622G>A (p.Asp208Asn)
c.154G>A (p.Asp52Asn)
20g.6778520G>CCA408258749BMP2c.622G>C (p.Asp208His)
c.154G>C (p.Asp52His)
20g.6778520G>TCA408258750BMP2c.622G>T (p.Asp208Tyr)
c.154G>T (p.Asp52Tyr)
20g.6778521A=CA2348112150BMP2c.623A= (p.Asp208=)
c.155A= (p.Asp52=)
20g.6778521A>CCA408258751BMP2c.623A>C (p.Asp208Ala)
c.155A>C (p.Asp52Ala)
20g.6778521A>GCA408258752BMP2c.623A>G (p.Asp208Gly)
c.155A>G (p.Asp52Gly)
COSMIC
20g.6778521A>TCA9758714BMP2c.623A>T (p.Asp208Val)
c.155A>T (p.Asp52Val)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778522T>ACA408258754BMP2c.624T>A (p.Asp208Glu)
c.156T>A (p.Asp52Glu)
20g.6778522T>CCA9758715BMP2c.624T>C (p.Asp208=)
c.156T>C (p.Asp52=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778522T>GCA408258753BMP2c.624T>G (p.Asp208Glu)
c.156T>G (p.Asp52Glu)
20g.6778522T=CA2348112151BMP2c.624T= (p.Asp208=)
c.156T= (p.Asp52=)
20g.6778523G>ACA408258755BMP2c.625G>A (p.Val209Ile)
c.157G>A (p.Val53Ile)
20g.6778523G>CCA408258756BMP2c.625G>C (p.Val209Leu)
c.157G>C (p.Val53Leu)
20g.6778523G>TCA408258757BMP2c.625G>T (p.Val209Phe)
c.157G>T (p.Val53Phe)
20g.6778524T>ACA408258758BMP2c.626T>A (p.Val209Asp)
c.158T>A (p.Val53Asp)
20g.6778524T>CCA408258759BMP2c.626T>C (p.Val209Ala)
c.158T>C (p.Val53Ala)
20g.6778524T>GCA408258760BMP2c.626T>G (p.Val209Gly)
c.158T>G (p.Val53Gly)
20g.6778525C>ACA509817880BMP2c.627C>A (p.Val209=)
c.159C>A (p.Val53=)
20g.6778525C>GCA509817881BMP2c.627C>G (p.Val209=)
c.159C>G (p.Val53=)
20g.6778525C>TCA509817882BMP2c.627C>T (p.Val209=)
c.159C>T (p.Val53=)
20g.6778526A>CCA408258761BMP2c.628A>C (p.Thr210Pro)
c.160A>C (p.Thr54Pro)
20g.6778526A>GCA408258762BMP2c.628A>G (p.Thr210Ala)
c.160A>G (p.Thr54Ala)
20g.6778526A>TCA408258763BMP2c.628A>T (p.Thr210Ser)
c.160A>T (p.Thr54Ser)
20g.6778527C>ACA408258764BMP2c.629C>A (p.Thr210Asn)
c.161C>A (p.Thr54Asn)
20g.6778527C=CA2348112152BMP2c.629C= (p.Thr210=)
c.161C= (p.Thr54=)
20g.6778527C>GCA408258765BMP2c.629C>G (p.Thr210Ser)
c.161C>G (p.Thr54Ser)
20g.6778527C>TCA311471923BMP2c.629C>T (p.Thr210Ile)
c.161C>T (p.Thr54Ile)
dbSNP gnomAD v2 gnomAD v4
20g.6778528C>ACA509817885BMP2c.630C>A (p.Thr210=)
c.162C>A (p.Thr54=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778528C=CA2348112153BMP2c.630C= (p.Thr210=)
c.162C= (p.Thr54=)
20g.6778528C>GCA509817886BMP2c.630C>G (p.Thr210=)
c.162C>G (p.Thr54=)
20g.6778528C>TCA10587357BMP2c.630C>T (p.Thr210=)
c.162C>T (p.Thr54=)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.6778529C>ACA408258768BMP2c.631C>A (p.Pro211Thr)
c.163C>A (p.Pro55Thr)
20g.6778529C>GCA408258766BMP2c.631C>G (p.Pro211Ala)
c.163C>G (p.Pro55Ala)
gnomAD v4
20g.6778529C>TCA408258767BMP2c.631C>T (p.Pro211Ser)
c.163C>T (p.Pro55Ser)
20g.6778530C>ACA408258769BMP2c.632C>A (p.Pro211His)
c.164C>A (p.Pro55His)
20g.6778530C=CA2348112154BMP2c.632C= (p.Pro211=)
c.164C= (p.Pro55=)
20g.6778530C>GCA408258770BMP2c.632C>G (p.Pro211Arg)
c.164C>G (p.Pro55Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.6778530C>TCA408258771BMP2c.632C>T (p.Pro211Leu)
c.164C>T (p.Pro55Leu)
20g.6778531C>ACA509818015BMP2c.633C>A (p.Pro211=)
c.165C>A (p.Pro55=)
20g.6778531C=CA2348112155BMP2c.633C= (p.Pro211=)
c.165C= (p.Pro55=)
20g.6778531C>GCA9758717BMP2c.633C>G (p.Pro211=)
c.165C>G (p.Pro55=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778531C>TCA9758716BMP2c.633C>T (p.Pro211=)
c.165C>T (p.Pro55=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.6778532G>ACA9758719BMP2c.634G>A (p.Ala212Thr)
c.166G>A (p.Ala56Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778532G>CCA9758718BMP2c.634G>C (p.Ala212Pro)
c.166G>C (p.Ala56Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778532G=CA2348112156BMP2c.634G= (p.Ala212=)
c.166G= (p.Ala56=)
20g.6778532G>TCA408258772BMP2c.634G>T (p.Ala212Ser)
c.166G>T (p.Ala56Ser)
dbSNP gnomAD v4
20g.6778533C>ACA408258773BMP2c.635C>A (p.Ala212Asp)
c.167C>A (p.Ala56Asp)
20g.6778533C>GCA408258774BMP2c.635C>G (p.Ala212Gly)
c.167C>G (p.Ala56Gly)
20g.6778533C>TCA408258775BMP2c.635C>T (p.Ala212Val)
c.167C>T (p.Ala56Val)
20g.6778534T>ACA509818018BMP2c.636T>A (p.Ala212=)
c.168T>A (p.Ala56=)
20g.6778534T>CCA9758720BMP2c.636T>C (p.Ala212=)
c.168T>C (p.Ala56=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778534T>GCA509818019BMP2c.636T>G (p.Ala212=)
c.168T>G (p.Ala56=)
gnomAD v4
20g.6778534T=CA2348112157BMP2c.636T= (p.Ala212=)
c.168T= (p.Ala56=)
20g.6778535G>ACA408258776BMP2c.637G>A (p.Val213Met)
c.169G>A (p.Val57Met)
20g.6778535G>CCA408258777BMP2c.637G>C (p.Val213Leu)
c.169G>C (p.Val57Leu)
20g.6778535G>TCA408258778BMP2c.637G>T (p.Val213Leu)
c.169G>T (p.Val57Leu)
gnomAD v4
20g.6778536T>ACA408258779BMP2c.638T>A (p.Val213Glu)
c.170T>A (p.Val57Glu)
20g.6778536T>CCA408258780BMP2c.638T>C (p.Val213Ala)
c.170T>C (p.Val57Ala)
20g.6778536T>GCA408258781BMP2c.638T>G (p.Val213Gly)
c.170T>G (p.Val57Gly)
20g.6778537G>ACA509818022BMP2c.639G>A (p.Val213=)
c.171G>A (p.Val57=)
dbSNP gnomAD v2 gnomAD v4
20g.6778537G>CCA9758721BMP2c.639G>C (p.Val213=)
c.171G>C (p.Val57=)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778537G=CA2348112158BMP2c.639G= (p.Val213=)
c.171G= (p.Val57=)
20g.6778537G>TCA509818024BMP2c.639G>T (p.Val213=)
c.171G>T (p.Val57=)
20g.6778538A=CA2348112159BMP2c.640A= (p.Met214=)
c.172A= (p.Met58=)
20g.6778538A>CCA408258782BMP2c.640A>C (p.Met214Leu)
c.172A>C (p.Met58Leu)
20g.6778538A>GCA408258783BMP2c.640A>G (p.Met214Val)
c.172A>G (p.Met58Val)
dbSNP gnomAD v2 gnomAD v4
20g.6778538A>TCA408258784BMP2c.640A>T (p.Met214Leu)
c.172A>T (p.Met58Leu)
20g.6778539T>ACA408258785BMP2c.641T>A (p.Met214Lys)
c.173T>A (p.Met58Lys)
20g.6778539T>CCA408258786BMP2c.641T>C (p.Met214Thr)
c.173T>C (p.Met58Thr)
20g.6778539T>GCA408258787BMP2c.641T>G (p.Met214Arg)
c.173T>G (p.Met58Arg)
20g.6778540G>ACA9758722BMP2c.642G>A (p.Met214Ile)
c.174G>A (p.Met58Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778540G>CCA408258789BMP2c.642G>C (p.Met214Ile)
c.174G>C (p.Met58Ile)
gnomAD v4
20g.6778540G=CA2348112160BMP2c.642G= (p.Met214=)
c.174G= (p.Met58=)
20g.6778540G>TCA408258788BMP2c.642G>T (p.Met214Ile)
c.174G>T (p.Met58Ile)
20g.6778541C>ACA509818026BMP2c.643C>A (p.Arg215=)
c.175C>A (p.Arg59=)
dbSNP
20g.6778541C=CA2348112161BMP2c.643C= (p.Arg215=)
c.175C= (p.Arg59=)
20g.6778541C>GCA408258790BMP2c.643C>G (p.Arg215Gly)
c.175C>G (p.Arg59Gly)
20g.6778541C>TCA408258791BMP2c.643C>T (p.Arg215Trp)
c.175C>T (p.Arg59Trp)
dbSNP
20g.6778542G>ACA9758723BMP2c.644G>A (p.Arg215Gln)
c.176G>A (p.Arg59Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778542G>CCA408258792BMP2c.644G>C (p.Arg215Pro)
c.176G>C (p.Arg59Pro)
gnomAD v4
20g.6778542G=CA2348112162BMP2c.644G= (p.Arg215=)
c.176G= (p.Arg59=)
20g.6778542G>TCA408258793BMP2c.644G>T (p.Arg215Leu)
c.176G>T (p.Arg59Leu)
gnomAD v4
20g.6778543G>ACA509818029BMP2c.645G>A (p.Arg215=)
c.177G>A (p.Arg59=)
20g.6778543G>CCA509818028BMP2c.645G>C (p.Arg215=)
c.177G>C (p.Arg59=)
20g.6778543G>TCA509818027BMP2c.645G>T (p.Arg215=)
c.177G>T (p.Arg59=)
20g.6778544T>ACA408258796BMP2c.646T>A (p.Trp216Arg)
c.178T>A (p.Trp60Arg)
20g.6778544T>CCA408258795BMP2c.646T>C (p.Trp216Arg)
c.178T>C (p.Trp60Arg)
20g.6778544T>GCA408258794BMP2c.646T>G (p.Trp216Gly)
c.178T>G (p.Trp60Gly)
20g.6778545G>ACA408258797BMP2c.647G>A (p.Trp216Ter)
c.179G>A (p.Trp60Ter)
20g.6778545G>CCA408258798BMP2c.647G>C (p.Trp216Ser)
c.179G>C (p.Trp60Ser)
20g.6778545G>TCA408258799BMP2c.647G>T (p.Trp216Leu)
c.179G>T (p.Trp60Leu)
20g.6778546G>ACA408258800BMP2c.648G>A (p.Trp216Ter)
c.180G>A (p.Trp60Ter)
20g.6778546G>CCA311471924BMP2c.648G>C (p.Trp216Cys)
c.180G>C (p.Trp60Cys)
dbSNP gnomAD v3 gnomAD v4
20g.6778546G=CA2348112163BMP2c.648G= (p.Trp216=)
c.180G= (p.Trp60=)
20g.6778546G>TCA408258801BMP2c.648G>T (p.Trp216Cys)
c.180G>T (p.Trp60Cys)
gnomAD v4
20g.6778547A>CCA408258804BMP2c.649A>C (p.Thr217Pro)
c.181A>C (p.Thr61Pro)
20g.6778547A>GCA408258802BMP2c.649A>G (p.Thr217Ala)
c.181A>G (p.Thr61Ala)
gnomAD v4
20g.6778547A>TCA408258803BMP2c.649A>T (p.Thr217Ser)
c.181A>T (p.Thr61Ser)
20g.6778548C>ACA408258805BMP2c.650C>A (p.Thr217Asn)
c.182C>A (p.Thr61Asn)
20g.6778548C>GCA408258806BMP2c.650C>G (p.Thr217Ser)
c.182C>G (p.Thr61Ser)
20g.6778548C>TCA408258807BMP2c.650C>T (p.Thr217Ile)
c.182C>T (p.Thr61Ile)
20g.6778549T>ACA509818034BMP2c.651T>A (p.Thr217=)
c.183T>A (p.Thr61=)
20g.6778549T>CCA509818035BMP2c.651T>C (p.Thr217=)
c.183T>C (p.Thr61=)
20g.6778549T>GCA509818036BMP2c.651T>G (p.Thr217=)
c.183T>G (p.Thr61=)
gnomAD v4
20g.6778550G>ACA9758724BMP2c.652G>A (p.Ala218Thr)
c.184G>A (p.Ala62Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.6778550G>CCA408258808BMP2c.652G>C (p.Ala218Pro)
c.184G>C (p.Ala62Pro)
20g.6778550G=CA2348112164BMP2c.652G= (p.Ala218=)
c.184G= (p.Ala62=)
20g.6778550G>TCA408258809BMP2c.652G>T (p.Ala218Ser)
c.184G>T (p.Ala62Ser)
20g.6778551C>ACA408258810BMP2c.653C>A (p.Ala218Glu)
c.185C>A (p.Ala62Glu)
20g.6778551C=CA2348112165BMP2c.653C= (p.Ala218=)
c.185C= (p.Ala62=)
20g.6778551C>GCA408258811BMP2c.653C>G (p.Ala218Gly)
c.185C>G (p.Ala62Gly)
20g.6778551C>TCA408258812BMP2c.653C>T (p.Ala218Val)
c.185C>T (p.Ala62Val)
dbSNP gnomAD v2 gnomAD v4
20g.6778552A=CA2348112166BMP2c.654A= (p.Ala218=)
c.186A= (p.Ala62=)
20g.6778552A>CCA509818041BMP2c.654A>C (p.Ala218=)
c.186A>C (p.Ala62=)
20g.6778552A>GCA311471925BMP2c.654A>G (p.Ala218=)
c.186A>G (p.Ala62=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778552A>TCA509818042BMP2c.654A>T (p.Ala218=)
c.186A>T (p.Ala62=)
20g.6778553C>ACA408258813BMP2c.655C>A (p.Gln219Lys)
c.187C>A (p.Gln63Lys)
20g.6778553C>GCA408258814BMP2c.655C>G (p.Gln219Glu)
c.187C>G (p.Gln63Glu)
20g.6778553C>TCA408258815BMP2c.655C>T (p.Gln219Ter)
c.187C>T (p.Gln63Ter)
20g.6778554A>CCA408258816BMP2c.656A>C (p.Gln219Pro)
c.188A>C (p.Gln63Pro)
20g.6778554A>GCA408258818BMP2c.656A>G (p.Gln219Arg)
c.188A>G (p.Gln63Arg)
20g.6778554A>TCA408258817BMP2c.656A>T (p.Gln219Leu)
c.188A>T (p.Gln63Leu)
20g.6778555G>ACA509818047BMP2c.657G>A (p.Gln219=)
c.189G>A (p.Gln63=)
gnomAD v4
20g.6778555G>CCA408258819BMP2c.657G>C (p.Gln219His)
c.189G>C (p.Gln63His)
20g.6778555G>TCA408258820BMP2c.657G>T (p.Gln219His)
c.189G>T (p.Gln63His)
20g.6778556G>ACA408258821BMP2c.658G>A (p.Gly220Arg)
c.190G>A (p.Gly64Arg)
20g.6778556G>CCA408258822BMP2c.658G>C (p.Gly220Arg)
c.190G>C (p.Gly64Arg)
20g.6778556G>TCA408258823BMP2c.658G>T (p.Gly220Ter)
c.190G>T (p.Gly64Ter)
20g.6778557G>ACA311471927BMP2c.659G>A (p.Gly220Glu)
c.191G>A (p.Gly64Glu)
dbSNP
20g.6778557G>CCA408258824BMP2c.659G>C (p.Gly220Ala)
c.191G>C (p.Gly64Ala)
gnomAD v4
20g.6778557G=CA2348112167BMP2c.659G= (p.Gly220=)
c.191G= (p.Gly64=)
20g.6778557G>TCA311471926BMP2c.659G>T (p.Gly220Val)
c.191G>T (p.Gly64Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778558A=CA2348112168BMP2c.660A= (p.Gly220=)
c.192A= (p.Gly64=)
20g.6778558A>CCA509818054BMP2c.660A>C (p.Gly220=)
c.192A>C (p.Gly64=)
20g.6778558A>GCA509818056BMP2c.660A>G (p.Gly220=)
c.192A>G (p.Gly64=)
dbSNP gnomAD v2 gnomAD v4
20g.6778558A>TCA509818057BMP2c.660A>T (p.Gly220=)
c.192A>T (p.Gly64=)
20g.6778559C>ACA408258825BMP2c.661C>A (p.His221Asn)
c.193C>A (p.His65Asn)
gnomAD v4
20g.6778559C>GCA408258826BMP2c.661C>G (p.His221Asp)
c.193C>G (p.His65Asp)
20g.6778559C>TCA408258827BMP2c.661C>T (p.His221Tyr)
c.193C>T (p.His65Tyr)
20g.6778560A=CA2348112169BMP2c.662A= (p.His221=)
c.194A= (p.His65=)
20g.6778560A>CCA408258828BMP2c.662A>C (p.His221Pro)
c.194A>C (p.His65Pro)
20g.6778560A>GCA408258829BMP2c.662A>G (p.His221Arg)
c.194A>G (p.His65Arg)
ClinVar dbSNP gnomAD v4
20g.6778560A>TCA408258830BMP2c.662A>T (p.His221Leu)
c.194A>T (p.His65Leu)
20g.6778561C>ACA408258831BMP2c.663C>A (p.His221Gln)
c.195C>A (p.His65Gln)
20g.6778561C=CA2348112170BMP2c.663C= (p.His221=)
c.195C= (p.His65=)
20g.6778561C>GCA408258832BMP2c.663C>G (p.His221Gln)
c.195C>G (p.His65Gln)
20g.6778561C>TCA9758725BMP2c.663C>T (p.His221=)
c.195C>T (p.His65=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.6778562G>ACA9758726BMP2c.664G>A (p.Ala222Thr)
c.196G>A (p.Ala66Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
20g.6778562G>CCA408258833BMP2c.664G>C (p.Ala222Pro)
c.196G>C (p.Ala66Pro)
20g.6778562G=CA2348112171BMP2c.664G= (p.Ala222=)
c.196G= (p.Ala66=)
20g.6778562G>TCA408258834BMP2c.664G>T (p.Ala222Ser)
c.196G>T (p.Ala66Ser)
gnomAD v4
20g.6778563C>ACA408258835BMP2c.665C>A (p.Ala222Asp)
c.197C>A (p.Ala66Asp)
20g.6778563C=CA2348112172BMP2c.665C= (p.Ala222=)
c.197C= (p.Ala66=)
20g.6778563C>GCA408258836BMP2c.665C>G (p.Ala222Gly)
c.197C>G (p.Ala66Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.6778563C>TCA408258837BMP2c.665C>T (p.Ala222Val)
c.197C>T (p.Ala66Val)
20g.6778564C>ACA509818066BMP2c.666C>A (p.Ala222=)
c.198C>A (p.Ala66=)
20g.6778564C=CA2348112173BMP2c.666C= (p.Ala222=)
c.198C= (p.Ala66=)
20g.6778564C>GCA509818064BMP2c.666C>G (p.Ala222=)
c.198C>G (p.Ala66=)
20g.6778564C>TCA509818065BMP2c.666C>T (p.Ala222=)
c.198C>T (p.Ala66=)
dbSNP gnomAD v3 gnomAD v4
20g.6778565A>CCA408258838BMP2c.667A>C (p.Asn223His)
c.199A>C (p.Asn67His)
20g.6778565A>GCA408258839BMP2c.667A>G (p.Asn223Asp)
c.199A>G (p.Asn67Asp)
20g.6778565A>TCA408258840BMP2c.667A>T (p.Asn223Tyr)
c.199A>T (p.Asn67Tyr)
20g.6778566A=CA2348112174BMP2c.668A= (p.Asn223=)
c.200A= (p.Asn67=)
20g.6778566A>CCA408258841BMP2c.668A>C (p.Asn223Thr)
c.200A>C (p.Asn67Thr)
20g.6778566A>GCA9758727BMP2c.668A>G (p.Asn223Ser)
c.200A>G (p.Asn67Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.6778566A>TCA408258842BMP2c.668A>T (p.Asn223Ile)
c.200A>T (p.Asn67Ile)
20g.6778567C>ACA408258844BMP2c.669C>A (p.Asn223Lys)
c.201C>A (p.Asn67Lys)
20g.6778567C>GCA408258843BMP2c.669C>G (p.Asn223Lys)
c.201C>G (p.Asn67Lys)
20g.6778567C>TCA509818068BMP2c.669C>T (p.Asn223=)
c.201C>T (p.Asn67=)
20g.6778568C>ACA408258845BMP2c.670C>A (p.His224Asn)
c.202C>A (p.His68Asn)
20g.6778568C>GCA408258847BMP2c.670C>G (p.His224Asp)
c.202C>G (p.His68Asp)
20g.6778568C>TCA408258846BMP2c.670C>T (p.His224Tyr)
c.202C>T (p.His68Tyr)

Number of alleles fetched