Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.53951840_53951846delCA2527457075BMP4c.370+8_370+14del (n.370+8_370+14del)
c.295+8_295+14del (n.295+8_295+14del)
c.181+8_181+14del (n.181+8_181+14del)
c.36_42del (p.Leu13GlnfsTer12)
c.511+8_511+14del (n.511+8_511+14del)
14g.53951846G>ACA389784977BMP4c.370+7C>T (n.370+7C>T)
c.295+7C>T (n.295+7C>T)
c.181+7C>T (n.181+7C>T)
c.35C>T (p.Ser12Phe)
c.511+7C>T (n.511+7C>T)
14g.53951846G>CCA389784978BMP4c.370+7C>G (n.370+7C>G)
c.295+7C>G (n.295+7C>G)
c.181+7C>G (n.181+7C>G)
c.35C>G (p.Ser12Cys)
c.511+7C>G (n.511+7C>G)
 dbSNP gnomAD v3 gnomAD v4
14g.53951846G=CA2137818954BMP4c.370+7C= (n.370+7C=)
c.295+7C= (n.295+7C=)
c.181+7C= (n.181+7C=)
c.35C= (p.Ser12=)
c.511+7C= (n.511+7C=)
14g.53951846G>TCA389784979BMP4c.370+7C>A (n.370+7C>A)
c.295+7C>A (n.295+7C>A)
c.181+7C>A (n.181+7C>A)
c.35C>A (p.Ser12Tyr)
c.511+7C>A (n.511+7C>A)
 gnomAD v4
14g.53951847A=CA2137818956BMP4c.370+6T= (n.370+6T=)
c.295+6T= (n.295+6T=)
c.181+6T= (n.181+6T=)
c.34T= (p.Ser12=)
c.511+6T= (n.511+6T=)
14g.53951847A>CCA389784980BMP4c.370+6T>G (n.370+6T>G)
c.295+6T>G (n.295+6T>G)
c.181+6T>G (n.181+6T>G)
c.34T>G (p.Ser12Ala)
c.511+6T>G (n.511+6T>G)
 dbSNP
14g.53951847A>GCA389784982BMP4c.370+6T>C (n.370+6T>C)
c.295+6T>C (n.295+6T>C)
c.181+6T>C (n.181+6T>C)
c.34T>C (p.Ser12Pro)
c.511+6T>C (n.511+6T>C)
 dbSNP gnomAD v3 gnomAD v4
14g.53951847A>TCA389784981BMP4c.370+6T>A (n.370+6T>A)
c.295+6T>A (n.295+6T>A)
c.181+6T>A (n.181+6T>A)
c.34T>A (p.Ser12Thr)
c.511+6T>A (n.511+6T>A)
14g.53951848C>ACA389784983BMP4c.370+5G>T (n.370+5G>T)
c.295+5G>T (n.295+5G>T)
c.181+5G>T (n.181+5G>T)
c.33G>T (p.Gln11His)
c.511+5G>T (n.511+5G>T)
14g.53951848C>GCA389784984BMP4c.370+5G>C (n.370+5G>C)
c.295+5G>C (n.295+5G>C)
c.181+5G>C (n.181+5G>C)
c.33G>C (p.Gln11His)
c.511+5G>C (n.511+5G>C)
14g.53951849T>ACA389784985BMP4c.370+4A>T (n.370+4A>T)
c.295+4A>T (n.295+4A>T)
c.181+4A>T (n.181+4A>T)
c.32A>T (p.Gln11Leu)
c.511+4A>T (n.511+4A>T)
 gnomAD v4
14g.53951849T>CCA389784987BMP4c.370+4A>G (n.370+4A>G)
c.295+4A>G (n.295+4A>G)
c.181+4A>G (n.181+4A>G)
c.32A>G (p.Gln11Arg)
c.511+4A>G (n.511+4A>G)
14g.53951849T>GCA389784986BMP4c.370+4A>C (n.370+4A>C)
c.295+4A>C (n.295+4A>C)
c.181+4A>C (n.181+4A>C)
c.32A>C (p.Gln11Pro)
c.511+4A>C (n.511+4A>C)
14g.53951850G>ACA389784988BMP4c.370+3C>T (n.370+3C>T)
c.295+3C>T (n.295+3C>T)
c.181+3C>T (n.181+3C>T)
c.31C>T (p.Gln11Ter)
c.511+3C>T (n.511+3C>T)
14g.53951850G>CCA389784989BMP4c.370+3C>G (n.370+3C>G)
c.295+3C>G (n.295+3C>G)
c.181+3C>G (n.181+3C>G)
c.31C>G (p.Gln11Glu)
c.511+3C>G (n.511+3C>G)
14g.53951850G>TCA389784990BMP4c.370+3C>A (n.370+3C>A)
c.295+3C>A (n.295+3C>A)
c.181+3C>A (n.181+3C>A)
c.31C>A (p.Gln11Lys)
c.511+3C>A (n.511+3C>A)
 gnomAD v4
14g.53951851A>CCA389784991BMP4c.370+2T>G (n.370+2T>G)
c.295+2T>G (n.295+2T>G)
c.181+2T>G (n.181+2T>G)
c.30T>G (p.Gly10=)
c.511+2T>G (n.511+2T>G)
 dbSNP
14g.53951851A>GCA389784992BMP4c.370+2T>C (n.370+2T>C)
c.295+2T>C (n.295+2T>C)
c.181+2T>C (n.181+2T>C)
c.30T>C (p.Gly10=)
c.511+2T>C (n.511+2T>C)
14g.53951851A>TCA389784993BMP4c.370+2T>A (n.370+2T>A)
c.295+2T>A (n.295+2T>A)
c.181+2T>A (n.181+2T>A)
c.30T>A (p.Gly10=)
c.511+2T>A (n.511+2T>A)
14g.53951852C>ACA389784994BMP4c.370+1G>T (n.370+1G>T)
c.295+1G>T (n.295+1G>T)
c.181+1G>T (n.181+1G>T)
c.29G>T (p.Gly10Val)
c.511+1G>T (n.511+1G>T)
 ClinVar dbSNP gnomAD v4
14g.53951852C>GCA389784995BMP4c.370+1G>C (n.370+1G>C)
c.295+1G>C (n.295+1G>C)
c.181+1G>C (n.181+1G>C)
c.29G>C (p.Gly10Ala)
c.511+1G>C (n.511+1G>C)
14g.53951852C>TCA389784996BMP4c.370+1G>A (n.370+1G>A)
c.295+1G>A (n.295+1G>A)
c.181+1G>A (n.181+1G>A)
c.29G>A (p.Gly10Asp)
c.511+1G>A (n.511+1G>A)
14g.53951853C>ACA389784997BMP4c.370G>T (p.Glu124Ter)
c.295G>T (p.Ala99Ser)
c.181G>T (p.Glu61Ter)
c.28G>T (p.Gly10Cys)
c.511G>T (p.Glu171Ter)
14g.53951853C=CA2137818960BMP4c.370G= (p.Glu124=)
c.295G= (p.Ala99=)
c.181G= (p.Glu61=)
c.28G= (p.Gly10=)
c.511G= (p.Glu171=)
14g.53951853C>GCA389784998BMP4c.370G>C (p.Glu124Gln)
c.295G>C (p.Ala99Pro)
c.181G>C (p.Glu61Gln)
c.28G>C (p.Gly10Arg)
c.511G>C (p.Glu171Gln)
14g.53951853C>TCA261472774BMP4c.370G>A (p.Glu124Lys)
c.295G>A (p.Ala99Thr)
c.181G>A (p.Glu61Lys)
c.28G>A (p.Gly10Ser)
c.511G>A (p.Glu171Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951854_53951856delCA2575530839BMP4c.368_370del (p.Glu124del)
c.293_295del (p.Glu98del)
c.179_181del (p.Glu61del)
c.26_28del (p.Glu9del)
c.509_511del (p.Glu171del)
14g.53951854T>ACA389784999BMP4c.369A>T (p.Glu123Asp)
c.294A>T (p.Glu98Asp)
c.180A>T (p.Glu60Asp)
c.27A>T (p.Glu9Asp)
c.510A>T (p.Glu170Asp)
14g.53951854T>CCA486658546BMP4c.369A>G (p.Glu123=)
c.294A>G (p.Glu98=)
c.180A>G (p.Glu60=)
c.27A>G (p.Glu9=)
c.510A>G (p.Glu170=)
 gnomAD v4
14g.53951854T>GCA389785000BMP4c.369A>C (p.Glu123Asp)
c.294A>C (p.Glu98Asp)
c.180A>C (p.Glu60Asp)
c.27A>C (p.Glu9Asp)
c.510A>C (p.Glu170Asp)
14g.53951855T>ACA389785001BMP4c.368A>T (p.Glu123Val)
c.293A>T (p.Glu98Val)
c.179A>T (p.Glu60Val)
c.26A>T (p.Glu9Val)
c.509A>T (p.Glu170Val)
14g.53951855T>CCA389785002BMP4c.368A>G (p.Glu123Gly)
c.293A>G (p.Glu98Gly)
c.179A>G (p.Glu60Gly)
c.26A>G (p.Glu9Gly)
c.509A>G (p.Glu170Gly)
14g.53951855T>GCA389785003BMP4c.368A>C (p.Glu123Ala)
c.293A>C (p.Glu98Ala)
c.179A>C (p.Glu60Ala)
c.26A>C (p.Glu9Ala)
c.509A>C (p.Glu170Ala)
 gnomAD v4
14g.53951856C>ACA389785004BMP4c.367G>T (p.Glu123Ter)
c.292G>T (p.Glu98Ter)
c.178G>T (p.Glu60Ter)
c.25G>T (p.Glu9Ter)
c.508G>T (p.Glu170Ter)
14g.53951856C=CA2137818964BMP4c.367G= (p.Glu123=)
c.292G= (p.Glu98=)
c.178G= (p.Glu60=)
c.25G= (p.Glu9=)
c.508G= (p.Glu170=)
14g.53951856C>GCA389785005BMP4c.367G>C (p.Glu123Gln)
c.292G>C (p.Glu98Gln)
c.178G>C (p.Glu60Gln)
c.25G>C (p.Glu9Gln)
c.508G>C (p.Glu170Gln)
14g.53951856C>TCA7191778BMP4c.367G>A (p.Glu123Lys)
c.292G>A (p.Glu98Lys)
c.178G>A (p.Glu60Lys)
c.25G>A (p.Glu9Lys)
c.508G>A (p.Glu170Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951857G>ACA7191779BMP4c.366C>T (p.His122=)
c.291C>T (p.His97=)
c.177C>T (p.His59=)
c.24C>T (p.His8=)
c.507C>T (p.His169=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53951857G>CCA389785006BMP4c.366C>G (p.His122Gln)
c.291C>G (p.His97Gln)
c.177C>G (p.His59Gln)
c.24C>G (p.His8Gln)
c.507C>G (p.His169Gln)
 gnomAD v4
14g.53951857G=CA2137818967BMP4c.366C= (p.His122=)
c.291C= (p.His97=)
c.177C= (p.His59=)
c.24C= (p.His8=)
c.507C= (p.His169=)
14g.53951857G>TCA389785007BMP4c.366C>A (p.His122Gln)
c.291C>A (p.His97Gln)
c.177C>A (p.His59Gln)
c.24C>A (p.His8Gln)
c.507C>A (p.His169Gln)
 gnomAD v4
14g.53951858T>ACA389785008BMP4c.365A>T (p.His122Leu)
c.290A>T (p.His97Leu)
c.176A>T (p.His59Leu)
c.23A>T (p.His8Leu)
c.506A>T (p.His169Leu)
14g.53951858T>CCA389785009BMP4c.365A>G (p.His122Arg)
c.290A>G (p.His97Arg)
c.176A>G (p.His59Arg)
c.23A>G (p.His8Arg)
c.506A>G (p.His169Arg)
 dbSNP gnomAD v3 gnomAD v4
14g.53951858T>GCA389785010BMP4c.365A>C (p.His122Pro)
c.290A>C (p.His97Pro)
c.176A>C (p.His59Pro)
c.23A>C (p.His8Pro)
c.506A>C (p.His169Pro)
14g.53951858T=CA2137818970BMP4c.365A= (p.His122=)
c.290A= (p.His97=)
c.176A= (p.His59=)
c.23A= (p.His8=)
c.506A= (p.His169=)
14g.53951859G>ACA389785011BMP4c.364C>T (p.His122Tyr)
c.289C>T (p.His97Tyr)
c.175C>T (p.His59Tyr)
c.22C>T (p.His8Tyr)
c.505C>T (p.His169Tyr)
14g.53951859G>CCA389785012BMP4c.364C>G (p.His122Asp)
c.289C>G (p.His97Asp)
c.175C>G (p.His59Asp)
c.22C>G (p.His8Asp)
c.505C>G (p.His169Asp)
14g.53951859G=CA2137818972BMP4c.364C= (p.His122=)
c.289C= (p.His97=)
c.175C= (p.His59=)
c.22C= (p.His8=)
c.505C= (p.His169=)
14g.53951859G>TCA261472775BMP4c.364C>A (p.His122Asn)
c.289C>A (p.His97Asn)
c.175C>A (p.His59Asn)
c.22C>A (p.His8Asn)
c.505C>A (p.His169Asn)
 dbSNP

Number of alleles fetched