Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
14g.53951860G>ACA7191780BMP4c.363C>T (p.His121=)
c.288C>T (p.His96=)
c.174C>T (p.His58=)
c.21C>T (p.His7=)
c.504C>T (p.His168=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951860G>CCA389785013BMP4c.363C>G (p.His121Gln)
c.288C>G (p.His96Gln)
c.174C>G (p.His58Gln)
c.21C>G (p.His7Gln)
c.504C>G (p.His168Gln)
14g.53951860G=CA2137818975BMP4c.363C= (p.His121=)
c.288C= (p.His96=)
c.174C= (p.His58=)
c.21C= (p.His7=)
c.504C= (p.His168=)
14g.53951860G>TCA389785014BMP4c.363C>A (p.His121Gln)
c.288C>A (p.His96Gln)
c.174C>A (p.His58Gln)
c.21C>A (p.His7Gln)
c.504C>A (p.His168Gln)
14g.53951861T>ACA389785015BMP4c.362A>T (p.His121Leu)
c.287A>T (p.His96Leu)
c.173A>T (p.His58Leu)
c.20A>T (p.His7Leu)
c.503A>T (p.His168Leu)
14g.53951861T>CCA259604BMP4c.362A>G (p.His121Arg)
c.287A>G (p.His96Arg)
c.173A>G (p.His58Arg)
c.20A>G (p.His7Arg)
c.503A>G (p.His168Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.53951861T>GCA389785016BMP4c.362A>C (p.His121Pro)
c.287A>C (p.His96Pro)
c.173A>C (p.His58Pro)
c.20A>C (p.His7Pro)
c.503A>C (p.His168Pro)
14g.53951861T=CA2137818981BMP4c.362A= (p.His121=)
c.287A= (p.His96=)
c.173A= (p.His58=)
c.20A= (p.His7=)
c.503A= (p.His168=)
14g.53951862G>ACA7191781BMP4c.361C>T (p.His121Tyr)
c.286C>T (p.His96Tyr)
c.172C>T (p.His58Tyr)
c.19C>T (p.His7Tyr)
c.502C>T (p.His168Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.53951862G>CCA389785017BMP4c.361C>G (p.His121Asp)
c.286C>G (p.His96Asp)
c.172C>G (p.His58Asp)
c.19C>G (p.His7Asp)
c.502C>G (p.His168Asp)
14g.53951862G=CA2137818991BMP4c.361C= (p.His121=)
c.286C= (p.His96=)
c.172C= (p.His58=)
c.19C= (p.His7=)
c.502C= (p.His168=)
14g.53951862G>TCA389785018BMP4c.361C>A (p.His121Asn)
c.286C>A (p.His96Asn)
c.172C>A (p.His58Asn)
c.19C>A (p.His7Asn)
c.502C>A (p.His168Asn)
14g.53951863G>ACA486658569BMP4c.360C>T (p.Phe120=)
c.285C>T (p.Phe95=)
c.171C>T (p.Phe57=)
c.18C>T (p.Phe6=)
c.501C>T (p.Phe167=)
 dbSNP gnomAD v2 gnomAD v4
14g.53951863G>CCA389785019BMP4c.360C>G (p.Phe120Leu)
c.285C>G (p.Phe95Leu)
c.171C>G (p.Phe57Leu)
c.18C>G (p.Phe6Leu)
c.501C>G (p.Phe167Leu)
14g.53951863G=CA2137818996BMP4c.360C= (p.Phe120=)
c.285C= (p.Phe95=)
c.171C= (p.Phe57=)
c.18C= (p.Phe6=)
c.501C= (p.Phe167=)
14g.53951863G>TCA389785020BMP4c.360C>A (p.Phe120Leu)
c.285C>A (p.Phe95Leu)
c.171C>A (p.Phe57Leu)
c.18C>A (p.Phe6Leu)
c.501C>A (p.Phe167Leu)
14g.53951864A>CCA389785023BMP4c.359T>G (p.Phe120Cys)
c.284T>G (p.Phe95Cys)
c.170T>G (p.Phe57Cys)
c.17T>G (p.Phe6Cys)
c.500T>G (p.Phe167Cys)
14g.53951864A>GCA389785022BMP4c.359T>C (p.Phe120Ser)
c.284T>C (p.Phe95Ser)
c.170T>C (p.Phe57Ser)
c.17T>C (p.Phe6Ser)
c.500T>C (p.Phe167Ser)
14g.53951864A>TCA389785021BMP4c.359T>A (p.Phe120Tyr)
c.284T>A (p.Phe95Tyr)
c.170T>A (p.Phe57Tyr)
c.17T>A (p.Phe6Tyr)
c.500T>A (p.Phe167Tyr)
14g.53951865A>CCA389785024BMP4c.358T>G (p.Phe120Val)
c.283T>G (p.Phe95Val)
c.169T>G (p.Phe57Val)
c.16T>G (p.Phe6Val)
c.499T>G (p.Phe167Val)
14g.53951865A>GCA389785025BMP4c.358T>C (p.Phe120Leu)
c.283T>C (p.Phe95Leu)
c.169T>C (p.Phe57Leu)
c.16T>C (p.Phe6Leu)
c.499T>C (p.Phe167Leu)
14g.53951865A>TCA389785026BMP4c.358T>A (p.Phe120Ile)
c.283T>A (p.Phe95Ile)
c.169T>A (p.Phe57Ile)
c.16T>A (p.Phe6Ile)
c.499T>A (p.Phe167Ile)
14g.53951866G>ACA7191782BMP4c.357C>T (p.Ser119=)
c.282C>T (p.Ser94=)
c.168C>T (p.Ser56=)
c.15C>T (p.Ser5=)
c.498C>T (p.Ser166=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.53951866G>CCA389785027BMP4c.357C>G (p.Ser119Arg)
c.282C>G (p.Ser94Arg)
c.168C>G (p.Ser56Arg)
c.15C>G (p.Ser5Arg)
c.498C>G (p.Ser166Arg)
14g.53951866G=CA2137819000BMP4c.357C= (p.Ser119=)
c.282C= (p.Ser94=)
c.168C= (p.Ser56=)
c.15C= (p.Ser5=)
c.498C= (p.Ser166=)
14g.53951866G>TCA389785028BMP4c.357C>A (p.Ser119Arg)
c.282C>A (p.Ser94Arg)
c.168C>A (p.Ser56Arg)
c.15C>A (p.Ser5Arg)
c.498C>A (p.Ser166Arg)
14g.53951867C>ACA389785029BMP4c.356G>T (p.Ser119Ile)
c.281G>T (p.Ser94Ile)
c.167G>T (p.Ser56Ile)
c.14G>T (p.Ser5Ile)
c.497G>T (p.Ser166Ile)
14g.53951867C>GCA389785030BMP4c.356G>C (p.Ser119Thr)
c.281G>C (p.Ser94Thr)
c.167G>C (p.Ser56Thr)
c.14G>C (p.Ser5Thr)
c.497G>C (p.Ser166Thr)
14g.53951867C>TCA389785031BMP4c.356G>A (p.Ser119Asn)
c.281G>A (p.Ser94Asn)
c.167G>A (p.Ser56Asn)
c.14G>A (p.Ser5Asn)
c.497G>A (p.Ser166Asn)
14g.53951868T>ACA389785032BMP4c.355A>T (p.Ser119Cys)
c.280A>T (p.Ser94Cys)
c.166A>T (p.Ser56Cys)
c.13A>T (p.Ser5Cys)
c.496A>T (p.Ser166Cys)
14g.53951868T>CCA389785033BMP4c.355A>G (p.Ser119Gly)
c.280A>G (p.Ser94Gly)
c.166A>G (p.Ser56Gly)
c.13A>G (p.Ser5Gly)
c.496A>G (p.Ser166Gly)
14g.53951868T>GCA389785034BMP4c.355A>C (p.Ser119Arg)
c.280A>C (p.Ser94Arg)
c.166A>C (p.Ser56Arg)
c.13A>C (p.Ser5Arg)
c.496A>C (p.Ser166Arg)
14g.53951869C>ACA389785035BMP4c.354G>T (p.Arg118Ser)
c.279G>T (p.Arg93Ser)
c.165G>T (p.Arg55Ser)
c.12G>T (p.Arg4Ser)
c.495G>T (p.Arg165Ser)
14g.53951869C>GCA389785036BMP4c.354G>C (p.Arg118Ser)
c.279G>C (p.Arg93Ser)
c.165G>C (p.Arg55Ser)
c.12G>C (p.Arg4Ser)
c.495G>C (p.Arg165Ser)
14g.53951869C>TCA486658588BMP4c.354G>A (p.Arg118=)
c.279G>A (p.Arg93=)
c.165G>A (p.Arg55=)
c.12G>A (p.Arg4=)
c.495G>A (p.Arg165=)
 gnomAD v4
14g.53951870C>ACA389785037BMP4c.353G>T (p.Arg118Met)
c.278G>T (p.Arg93Met)
c.164G>T (p.Arg55Met)
c.11G>T (p.Arg4Met)
c.494G>T (p.Arg165Met)
14g.53951870C>GCA389785038BMP4c.353G>C (p.Arg118Thr)
c.278G>C (p.Arg93Thr)
c.164G>C (p.Arg55Thr)
c.11G>C (p.Arg4Thr)
c.494G>C (p.Arg165Thr)
14g.53951870C>TCA389785039BMP4c.353G>A (p.Arg118Lys)
c.278G>A (p.Arg93Lys)
c.164G>A (p.Arg55Lys)
c.11G>A (p.Arg4Lys)
c.494G>A (p.Arg165Lys)
 gnomAD v4
14g.53951871T>ACA389785040BMP4c.352A>T (p.Arg118Trp)
c.277A>T (p.Arg93Trp)
c.163A>T (p.Arg55Trp)
c.10A>T (p.Arg4Trp)
c.493A>T (p.Arg165Trp)
14g.53951871T>CCA389785041BMP4c.352A>G (p.Arg118Gly)
c.277A>G (p.Arg93Gly)
c.163A>G (p.Arg55Gly)
c.10A>G (p.Arg4Gly)
c.493A>G (p.Arg165Gly)
14g.53951871T>GCA486658595BMP4c.352A>C (p.Arg118=)
c.277A>C (p.Arg93=)
c.163A>C (p.Arg55=)
c.10A>C (p.Arg4=)
c.493A>C (p.Arg165=)
14g.53951872C>ACA486658597BMP4c.351G>T (p.Val117=)
c.276G>T (p.Val92=)
c.162G>T (p.Val54=)
c.9G>T (p.Val3=)
c.492G>T (p.Val164=)
14g.53951872C=CA2137819005BMP4c.351G= (p.Val117=)
c.276G= (p.Val92=)
c.162G= (p.Val54=)
c.9G= (p.Val3=)
c.492G= (p.Val164=)
14g.53951872C>GCA486658600BMP4c.351G>C (p.Val117=)
c.276G>C (p.Val92=)
c.162G>C (p.Val54=)
c.9G>C (p.Val3=)
c.492G>C (p.Val164=)
14g.53951872C>TCA261472776BMP4c.351G>A (p.Val117=)
c.276G>A (p.Val92=)
c.162G>A (p.Val54=)
c.9G>A (p.Val3=)
c.492G>A (p.Val164=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.53951873A>CCA389785044BMP4c.350T>G (p.Val117Gly)
c.275T>G (p.Val92Gly)
c.161T>G (p.Val54Gly)
c.8T>G (p.Val3Gly)
c.491T>G (p.Val164Gly)
14g.53951873A>GCA389785043BMP4c.350T>C (p.Val117Ala)
c.275T>C (p.Val92Ala)
c.161T>C (p.Val54Ala)
c.8T>C (p.Val3Ala)
c.491T>C (p.Val164Ala)
14g.53951873A>TCA389785042BMP4c.350T>A (p.Val117Glu)
c.275T>A (p.Val92Glu)
c.161T>A (p.Val54Glu)
c.8T>A (p.Val3Glu)
c.491T>A (p.Val164Glu)
14g.53951874C>ACA7191783BMP4c.349G>T (p.Val117Leu)
c.274G>T (p.Val92Leu)
c.160G>T (p.Val54Leu)
c.7G>T (p.Val3Leu)
c.490G>T (p.Val164Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951874C=CA2137819010BMP4c.349G= (p.Val117=)
c.274G= (p.Val92=)
c.160G= (p.Val54=)
c.7G= (p.Val3=)
c.490G= (p.Val164=)
14g.53951874C>GCA389785045BMP4c.349G>C (p.Val117Leu)
c.274G>C (p.Val92Leu)
c.160G>C (p.Val54Leu)
c.7G>C (p.Val3Leu)
c.490G>C (p.Val164Leu)
14g.53951874C>TCA261472777BMP4c.349G>A (p.Val117Met)
c.274G>A (p.Val92Met)
c.160G>A (p.Val54Met)
c.7G>A (p.Val3Met)
c.490G>A (p.Val164Met)
 dbSNP gnomAD v3 gnomAD v4
14g.53951875G>ACA261472778BMP4c.348C>T (p.Thr116=)
c.273C>T (p.Thr91=)
c.159C>T (p.Thr53=)
c.6C>T (p.Thr2=)
c.489C>T (p.Thr163=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951875G>CCA486658607BMP4c.348C>G (p.Thr116=)
c.273C>G (p.Thr91=)
c.159C>G (p.Thr53=)
c.6C>G (p.Thr2=)
c.489C>G (p.Thr163=)
 ClinVar dbSNP gnomAD v4
14g.53951875G=CA2137819014BMP4c.348C= (p.Thr116=)
c.273C= (p.Thr91=)
c.159C= (p.Thr53=)
c.6C= (p.Thr2=)
c.489C= (p.Thr163=)
14g.53951875G>TCA486658608BMP4c.348C>A (p.Thr116=)
c.273C>A (p.Thr91=)
c.159C>A (p.Thr53=)
c.6C>A (p.Thr2=)
c.489C>A (p.Thr163=)
14g.53951876G>ACA389785046BMP4c.347C>T (p.Thr116Ile)
c.272C>T (p.Thr91Ile)
c.158C>T (p.Thr53Ile)
c.5C>T (p.Thr2Ile)
c.488C>T (p.Thr163Ile)
 dbSNP gnomAD v2
14g.53951876G>CCA7191784BMP4c.347C>G (p.Thr116Ser)
c.272C>G (p.Thr91Ser)
c.158C>G (p.Thr53Ser)
c.5C>G (p.Thr2Ser)
c.488C>G (p.Thr163Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951876G=CA2137819017BMP4c.347C= (p.Thr116=)
c.272C= (p.Thr91=)
c.158C= (p.Thr53=)
c.5C= (p.Thr2=)
c.488C= (p.Thr163=)
14g.53951876G>TCA389785047BMP4c.347C>A (p.Thr116Asn)
c.272C>A (p.Thr91Asn)
c.158C>A (p.Thr53Asn)
c.5C>A (p.Thr2Asn)
c.488C>A (p.Thr163Asn)
14g.53951877T>ACA389785049BMP4c.346A>T (p.Thr116Ser)
c.271A>T (p.Thr91Ser)
c.157A>T (p.Thr53Ser)
c.4A>T (p.Thr2Ser)
c.487A>T (p.Thr163Ser)
14g.53951877T>CCA7191785BMP4c.346A>G (p.Thr116Ala)
c.271A>G (p.Thr91Ala)
c.157A>G (p.Thr53Ala)
c.4A>G (p.Thr2Ala)
c.487A>G (p.Thr163Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53951877T>GCA389785048BMP4c.346A>C (p.Thr116Pro)
c.271A>C (p.Thr91Pro)
c.157A>C (p.Thr53Pro)
c.4A>C (p.Thr2Pro)
c.487A>C (p.Thr163Pro)
14g.53951877T=CA2137819020BMP4c.346A= (p.Thr116=)
c.271A= (p.Thr91=)
c.157A= (p.Thr53=)
c.4A= (p.Thr2=)
c.487A= (p.Thr163=)
14g.53951878G>ACA7191786BMP4c.345C>T (p.Asn115=)
c.270C>T (p.Asn90=)
c.156C>T (p.Asn52=)
c.3C>T (p.Asn1=)
c.486C>T (p.Asn162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951878G>CCA389785050BMP4c.345C>G (p.Asn115Lys)
c.270C>G (p.Asn90Lys)
c.156C>G (p.Asn52Lys)
c.3C>G (p.Asn1Lys)
c.486C>G (p.Asn162Lys)
14g.53951878G=CA2137819026BMP4c.345C= (p.Asn115=)
c.270C= (p.Asn90=)
c.156C= (p.Asn52=)
c.3C= (p.Asn1=)
c.486C= (p.Asn162=)
14g.53951878G>TCA389785051BMP4c.345C>A (p.Asn115Lys)
c.270C>A (p.Asn90Lys)
c.156C>A (p.Asn52Lys)
c.3C>A (p.Asn1Lys)
c.486C>A (p.Asn162Lys)
 gnomAD v4
14g.53951879T>ACA389785052BMP4c.344A>T (p.Asn115Ile)
c.269A>T (p.Asn90Ile)
c.155A>T (p.Asn52Ile)
c.2A>T (p.Asn1Ile)
c.485A>T (p.Asn162Ile)
 COSMIC
14g.53951879T>CCA389785053BMP4c.344A>G (p.Asn115Ser)
c.269A>G (p.Asn90Ser)
c.155A>G (p.Asn52Ser)
c.2A>G (p.Asn1Ser)
c.485A>G (p.Asn162Ser)
14g.53951879T>GCA389785054BMP4c.344A>C (p.Asn115Thr)
c.269A>C (p.Asn90Thr)
c.155A>C (p.Asn52Thr)
c.2A>C (p.Asn1Thr)
c.485A>C (p.Asn162Thr)
14g.53951880T>ACA389785055BMP4c.343A>T (p.Asn115Tyr)
c.268A>T (p.Asn90Tyr)
c.154A>T (p.Asn52Tyr)
c.1A>T (p.Asn1Tyr)
c.484A>T (p.Asn162Tyr)
14g.53951880T>CCA389785056BMP4c.343A>G (p.Asn115Asp)
c.268A>G (p.Asn90Asp)
c.154A>G (p.Asn52Asp)
c.1A>G (p.Asn1Asp)
c.484A>G (p.Asn162Asp)
14g.53951880T>GCA389785057BMP4c.343A>C (p.Asn115His)
c.268A>C (p.Asn90His)
c.154A>C (p.Asn52His)
c.1A>C (p.Asn1His)
c.484A>C (p.Asn162His)
14g.53951881G>ACA486658618BMP4c.342C>T (p.Ala114=)
c.267C>T (p.Ala89=)
c.153C>T (p.Ala51=)
c.483C>T (p.Ala161=)
14g.53951881G>CCA486658617BMP4c.342C>G (p.Ala114=)
c.267C>G (p.Ala89=)
c.153C>G (p.Ala51=)
c.483C>G (p.Ala161=)
14g.53951881G>TCA486658616BMP4c.342C>A (p.Ala114=)
c.267C>A (p.Ala89=)
c.153C>A (p.Ala51=)
c.483C>A (p.Ala161=)
14g.53951882G>ACA389785058BMP4c.341C>T (p.Ala114Val)
c.266C>T (p.Ala89Val)
c.152C>T (p.Ala51Val)
c.482C>T (p.Ala161Val)
 gnomAD v4
14g.53951882G>CCA389785059BMP4c.341C>G (p.Ala114Gly)
c.266C>G (p.Ala89Gly)
c.152C>G (p.Ala51Gly)
c.482C>G (p.Ala161Gly)
14g.53951882G>TCA389785060BMP4c.341C>A (p.Ala114Asp)
c.266C>A (p.Ala89Asp)
c.152C>A (p.Ala51Asp)
c.482C>A (p.Ala161Asp)
14g.53951883C>ACA7191787BMP4c.340G>T (p.Ala114Ser)
c.265G>T (p.Ala89Ser)
c.151G>T (p.Ala51Ser)
c.481G>T (p.Ala161Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
14g.53951883C=CA2137819031BMP4c.340G= (p.Ala114=)
c.265G= (p.Ala89=)
c.151G= (p.Ala51=)
c.481G= (p.Ala161=)
14g.53951883C>GCA389785062BMP4c.340G>C (p.Ala114Pro)
c.265G>C (p.Ala89Pro)
c.151G>C (p.Ala51Pro)
c.481G>C (p.Ala161Pro)
14g.53951883C>TCA389785061BMP4c.340G>A (p.Ala114Thr)
c.265G>A (p.Ala89Thr)
c.151G>A (p.Ala51Thr)
c.481G>A (p.Ala161Thr)
 gnomAD v4
14g.53951884C>ACA486658623BMP4c.339G>T (p.Arg113=)
c.264G>T (p.Arg88=)
c.150G>T (p.Arg50=)
c.480G>T (p.Arg160=)
14g.53951884C>GCA486658624BMP4c.339G>C (p.Arg113=)
c.264G>C (p.Arg88=)
c.150G>C (p.Arg50=)
c.480G>C (p.Arg160=)
14g.53951884C>TCA486658626BMP4c.339G>A (p.Arg113=)
c.264G>A (p.Arg88=)
c.150G>A (p.Arg50=)
c.480G>A (p.Arg160=)
14g.53951885C>ACA389785063BMP4c.338G>T (p.Arg113Leu)
c.263G>T (p.Arg88Leu)
c.149G>T (p.Arg50Leu)
c.479G>T (p.Arg160Leu)
14g.53951885C=CA2137819036BMP4c.338G= (p.Arg113=)
c.263G= (p.Arg88=)
c.149G= (p.Arg50=)
c.479G= (p.Arg160=)
14g.53951885C>GCA7191788BMP4c.338G>C (p.Arg113Pro)
c.263G>C (p.Arg88Pro)
c.149G>C (p.Arg50Pro)
c.479G>C (p.Arg160Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951885C>TCA7191789BMP4c.338G>A (p.Arg113Gln)
c.263G>A (p.Arg88Gln)
c.149G>A (p.Arg50Gln)
c.479G>A (p.Arg160Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951886G>ACA389785064BMP4c.337C>T (p.Arg113Trp)
c.262C>T (p.Arg88Trp)
c.148C>T (p.Arg50Trp)
c.478C>T (p.Arg160Trp)
14g.53951886G>CCA389785065BMP4c.337C>G (p.Arg113Gly)
c.262C>G (p.Arg88Gly)
c.148C>G (p.Arg50Gly)
c.478C>G (p.Arg160Gly)
 ClinVar
14g.53951886G>TCA486658629BMP4c.337C>A (p.Arg113=)
c.262C>A (p.Arg88=)
c.148C>A (p.Arg50=)
c.478C>A (p.Arg160=)
14g.53951887G>ACA486658630BMP4c.336C>T (p.Ser112=)
c.261C>T (p.Ser87=)
c.147C>T (p.Ser49=)
c.477C>T (p.Ser159=)
 gnomAD v4
14g.53951887G>CCA389785066BMP4c.336C>G (p.Ser112Arg)
c.261C>G (p.Ser87Arg)
c.147C>G (p.Ser49Arg)
c.477C>G (p.Ser159Arg)
14g.53951887G>TCA389785067BMP4c.336C>A (p.Ser112Arg)
c.261C>A (p.Ser87Arg)
c.147C>A (p.Ser49Arg)
c.477C>A (p.Ser159Arg)
14g.53951888C>ACA389785068BMP4c.335G>T (p.Ser112Ile)
c.260G>T (p.Ser87Ile)
c.146G>T (p.Ser49Ile)
c.476G>T (p.Ser159Ile)
 gnomAD v4
14g.53951888C=CA2137819042BMP4c.335G= (p.Ser112=)
c.260G= (p.Ser87=)
c.146G= (p.Ser49=)
c.476G= (p.Ser159=)
14g.53951888C>GCA389785069BMP4c.335G>C (p.Ser112Thr)
c.260G>C (p.Ser87Thr)
c.146G>C (p.Ser49Thr)
c.476G>C (p.Ser159Thr)
14g.53951888C>TCA389785070BMP4c.335G>A (p.Ser112Asn)
c.260G>A (p.Ser87Asn)
c.146G>A (p.Ser49Asn)
c.476G>A (p.Ser159Asn)
 dbSNP gnomAD v4
14g.53951889T>ACA389785071BMP4c.334A>T (p.Ser112Cys)
c.259A>T (p.Ser87Cys)
c.145A>T (p.Ser49Cys)
c.475A>T (p.Ser159Cys)
14g.53951889T>CCA389785072BMP4c.334A>G (p.Ser112Gly)
c.259A>G (p.Ser87Gly)
c.145A>G (p.Ser49Gly)
c.475A>G (p.Ser159Gly)
14g.53951889T>GCA389785073BMP4c.334A>C (p.Ser112Arg)
c.259A>C (p.Ser87Arg)
c.145A>C (p.Ser49Arg)
c.475A>C (p.Ser159Arg)
14g.53951890G>ACA486658640BMP4c.333C>T (p.Ala111=)
c.258C>T (p.Ala86=)
c.144C>T (p.Ala48=)
c.474C>T (p.Ala158=)
 dbSNP gnomAD v4
14g.53951890G>CCA486658642BMP4c.333C>G (p.Ala111=)
c.258C>G (p.Ala86=)
c.144C>G (p.Ala48=)
c.474C>G (p.Ala158=)
14g.53951890G=CA2137819044BMP4c.333C= (p.Ala111=)
c.258C= (p.Ala86=)
c.144C= (p.Ala48=)
c.474C= (p.Ala158=)
14g.53951890G>TCA486658643BMP4c.333C>A (p.Ala111=)
c.258C>A (p.Ala86=)
c.144C>A (p.Ala48=)
c.474C>A (p.Ala158=)
14g.53951891G>ACA389785074BMP4c.332C>T (p.Ala111Val)
c.257C>T (p.Ala86Val)
c.143C>T (p.Ala48Val)
c.473C>T (p.Ala158Val)
 gnomAD v4
14g.53951891G>CCA389785076BMP4c.332C>G (p.Ala111Gly)
c.257C>G (p.Ala86Gly)
c.143C>G (p.Ala48Gly)
c.473C>G (p.Ala158Gly)
14g.53951891G>TCA389785075BMP4c.332C>A (p.Ala111Asp)
c.257C>A (p.Ala86Asp)
c.143C>A (p.Ala48Asp)
c.473C>A (p.Ala158Asp)
14g.53951892C>ACA389785077BMP4c.331G>T (p.Ala111Ser)
c.256G>T (p.Ala86Ser)
c.142G>T (p.Ala48Ser)
c.331G>T
c.472G>T (p.Ala158Ser)
14g.53951892C>GCA389785078BMP4c.331G>C (p.Ala111Pro)
c.256G>C (p.Ala86Pro)
c.142G>C (p.Ala48Pro)
c.331G>C
c.472G>C (p.Ala158Pro)
14g.53951892C>TCA389785079BMP4c.331G>A (p.Ala111Thr)
c.256G>A (p.Ala86Thr)
c.142G>A (p.Ala48Thr)
c.331G>A
c.472G>A (p.Ala158Thr)
 gnomAD v4
14g.53951893C>ACA486658646BMP4c.330G>T (p.Pro110=)
c.255G>T (p.Pro85=)
c.141G>T (p.Pro47=)
c.471G>T (p.Pro157=)
14g.53951893C=CA2137819046BMP4c.330G= (p.Pro110=)
c.255G= (p.Pro85=)
c.141G= (p.Pro47=)
c.471G= (p.Pro157=)
14g.53951893C>GCA7191790BMP4c.330G>C (p.Pro110=)
c.255G>C (p.Pro85=)
c.141G>C (p.Pro47=)
c.471G>C (p.Pro157=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951893C>TCA7191791BMP4c.330G>A (p.Pro110=)
c.255G>A (p.Pro85=)
c.141G>A (p.Pro47=)
c.471G>A (p.Pro157=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53951894G>ACA261472779BMP4c.329C>T (p.Pro110Leu)
c.254C>T (p.Pro85Leu)
c.140C>T (p.Pro47Leu)
c.470C>T (p.Pro157Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951894G>CCA389785080BMP4c.329C>G (p.Pro110Arg)
c.254C>G (p.Pro85Arg)
c.140C>G (p.Pro47Arg)
c.470C>G (p.Pro157Arg)
14g.53951894G=CA2137819051BMP4c.329C= (p.Pro110=)
c.254C= (p.Pro85=)
c.140C= (p.Pro47=)
c.470C= (p.Pro157=)
14g.53951894G>TCA389785081BMP4c.329C>A (p.Pro110Gln)
c.254C>A (p.Pro85Gln)
c.140C>A (p.Pro47Gln)
c.470C>A (p.Pro157Gln)
14g.53951895G>ACA389785082BMP4c.328C>T (p.Pro110Ser)
c.253C>T (p.Pro85Ser)
c.139C>T (p.Pro47Ser)
c.469C>T (p.Pro157Ser)
14g.53951895G>CCA389785083BMP4c.328C>G (p.Pro110Ala)
c.253C>G (p.Pro85Ala)
c.139C>G (p.Pro47Ala)
c.469C>G (p.Pro157Ala)
14g.53951895G>TCA389785084BMP4c.328C>A (p.Pro110Thr)
c.253C>A (p.Pro85Thr)
c.139C>A (p.Pro47Thr)
c.469C>A (p.Pro157Thr)
14g.53951896G>ACA486658660BMP4c.327C>T (p.Arg109=)
c.252C>T (p.Arg84=)
c.138C>T (p.Arg46=)
c.468C>T (p.Arg156=)
14g.53951896G>CCA486658654BMP4c.327C>G (p.Arg109=)
c.252C>G (p.Arg84=)
c.138C>G (p.Arg46=)
c.468C>G (p.Arg156=)
14g.53951896G>TCA486658652BMP4c.327C>A (p.Arg109=)
c.252C>A (p.Arg84=)
c.138C>A (p.Arg46=)
c.468C>A (p.Arg156=)
14g.53951897C>ACA7191792BMP4c.326G>T (p.Arg109Leu)
c.251G>T (p.Arg84Leu)
c.137G>T (p.Arg46Leu)
c.467G>T (p.Arg156Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951897C=CA2137819054BMP4c.326G= (p.Arg109=)
c.251G= (p.Arg84=)
c.137G= (p.Arg46=)
c.467G= (p.Arg156=)
14g.53951897C>GCA7191793BMP4c.326G>C (p.Arg109Pro)
c.251G>C (p.Arg84Pro)
c.137G>C (p.Arg46Pro)
c.467G>C (p.Arg156Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53951897C>TCA261472780BMP4c.326G>A (p.Arg109His)
c.251G>A (p.Arg84His)
c.137G>A (p.Arg46His)
c.467G>A (p.Arg156His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951898G>ACA389785086BMP4c.325C>T (p.Arg109Cys)
c.250C>T (p.Arg84Cys)
c.136C>T (p.Arg46Cys)
c.466C>T (p.Arg156Cys)
 dbSNP gnomAD v3 gnomAD v4
14g.53951898G>CCA389785085BMP4c.325C>G (p.Arg109Gly)
c.250C>G (p.Arg84Gly)
c.136C>G (p.Arg46Gly)
c.466C>G (p.Arg156Gly)
14g.53951898G=CA2137819057BMP4c.325C= (p.Arg109=)
c.250C= (p.Arg84=)
c.136C= (p.Arg46=)
c.466C= (p.Arg156=)
14g.53951898G>TCA389785087BMP4c.325C>A (p.Arg109Ser)
c.250C>A (p.Arg84Ser)
c.136C>A (p.Arg46Ser)
c.466C>A (p.Arg156Ser)
 gnomAD v4
14g.53951899C>ACA389785088BMP4c.324G>T (p.Glu108Asp)
c.249G>T (p.Glu83Asp)
c.135G>T (p.Glu45Asp)
c.465G>T (p.Glu155Asp)
 gnomAD v4
14g.53951899C>GCA389785089BMP4c.324G>C (p.Glu108Asp)
c.249G>C (p.Glu83Asp)
c.135G>C (p.Glu45Asp)
c.465G>C (p.Glu155Asp)
 gnomAD v4
14g.53951899C>TCA486658571BMP4c.324G>A (p.Glu108=)
c.249G>A (p.Glu83=)
c.135G>A (p.Glu45=)
c.465G>A (p.Glu155=)
14g.53951900T>ACA389785090BMP4c.323A>T (p.Glu108Val)
c.248A>T (p.Glu83Val)
c.134A>T (p.Glu45Val)
c.464A>T (p.Glu155Val)
14g.53951900T>CCA389785091BMP4c.323A>G (p.Glu108Gly)
c.248A>G (p.Glu83Gly)
c.134A>G (p.Glu45Gly)
c.464A>G (p.Glu155Gly)
14g.53951900T>GCA389785092BMP4c.323A>C (p.Glu108Ala)
c.248A>C (p.Glu83Ala)
c.134A>C (p.Glu45Ala)
c.464A>C (p.Glu155Ala)
14g.53951901C>ACA389785093BMP4c.322G>T (p.Glu108Ter)
c.247G>T (p.Glu83Ter)
c.133G>T (p.Glu45Ter)
c.463G>T (p.Glu155Ter)
14g.53951901C=CA2137819060BMP4c.322G= (p.Glu108=)
c.247G= (p.Glu83=)
c.133G= (p.Glu45=)
c.463G= (p.Glu155=)
14g.53951901C>GCA389785094BMP4c.322G>C (p.Glu108Gln)
c.247G>C (p.Glu83Gln)
c.133G>C (p.Glu45Gln)
c.463G>C (p.Glu155Gln)
 dbSNP gnomAD v3 gnomAD v4
14g.53951901C>TCA389785095BMP4c.322G>A (p.Glu108Lys)
c.247G>A (p.Glu83Lys)
c.133G>A (p.Glu45Lys)
c.463G>A (p.Glu155Lys)
14g.53951902A=CA2137819065BMP4c.321T= (p.Pro107=)
c.246T= (p.Pro82=)
c.132T= (p.Pro44=)
c.462T= (p.Pro154=)
14g.53951902A>CCA486658576BMP4c.321T>G (p.Pro107=)
c.246T>G (p.Pro82=)
c.132T>G (p.Pro44=)
c.462T>G (p.Pro154=)
14g.53951902A>GCA7191794BMP4c.321T>C (p.Pro107=)
c.246T>C (p.Pro82=)
c.132T>C (p.Pro44=)
c.462T>C (p.Pro154=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951902A>TCA486658577BMP4c.321T>A (p.Pro107=)
c.246T>A (p.Pro82=)
c.132T>A (p.Pro44=)
c.462T>A (p.Pro154=)
14g.53951903G>ACA389785096BMP4c.320C>T (p.Pro107Leu)
c.245C>T (p.Pro82Leu)
c.131C>T (p.Pro44Leu)
c.461C>T (p.Pro154Leu)
14g.53951903G>CCA389785097BMP4c.320C>G (p.Pro107Arg)
c.245C>G (p.Pro82Arg)
c.131C>G (p.Pro44Arg)
c.461C>G (p.Pro154Arg)
14g.53951903G>TCA389785098BMP4c.320C>A (p.Pro107His)
c.245C>A (p.Pro82His)
c.131C>A (p.Pro44His)
c.461C>A (p.Pro154His)
 gnomAD v4
14g.53951904G>ACA389785099BMP4c.319C>T (p.Pro107Ser)
c.244C>T (p.Pro82Ser)
c.130C>T (p.Pro44Ser)
c.460C>T (p.Pro154Ser)
 gnomAD v4
14g.53951904G>CCA389785100BMP4c.319C>G (p.Pro107Ala)
c.244C>G (p.Pro82Ala)
c.130C>G (p.Pro44Ala)
c.460C>G (p.Pro154Ala)
14g.53951904G>TCA389785101BMP4c.319C>A (p.Pro107Thr)
c.244C>A (p.Pro82Thr)
c.130C>A (p.Pro44Thr)
c.460C>A (p.Pro154Thr)
 gnomAD v4
14g.53951905A=CA2137819068BMP4c.318T= (p.Tyr106=)
c.243T= (p.Tyr81=)
c.129T= (p.Tyr43=)
c.459T= (p.Tyr153=)
14g.53951905A>CCA389785102BMP4c.318T>G (p.Tyr106Ter)
c.243T>G (p.Tyr81Ter)
c.129T>G (p.Tyr43Ter)
c.459T>G (p.Tyr153Ter)
14g.53951905A>GCA486658584BMP4c.318T>C (p.Tyr106=)
c.243T>C (p.Tyr81=)
c.129T>C (p.Tyr43=)
c.459T>C (p.Tyr153=)
 dbSNP gnomAD v2
14g.53951905A>TCA389785103BMP4c.318T>A (p.Tyr106Ter)
c.243T>A (p.Tyr81Ter)
c.129T>A (p.Tyr43Ter)
c.459T>A (p.Tyr153Ter)
 gnomAD v4
14g.53951906T>ACA389785104BMP4c.317A>T (p.Tyr106Phe)
c.242A>T (p.Tyr81Phe)
c.128A>T (p.Tyr43Phe)
c.458A>T (p.Tyr153Phe)
14g.53951906T>CCA389785105BMP4c.317A>G (p.Tyr106Cys)
c.242A>G (p.Tyr81Cys)
c.128A>G (p.Tyr43Cys)
c.458A>G (p.Tyr153Cys)
 dbSNP gnomAD v2 gnomAD v4
14g.53951906T>GCA389785106BMP4c.317A>C (p.Tyr106Ser)
c.242A>C (p.Tyr81Ser)
c.128A>C (p.Tyr43Ser)
c.458A>C (p.Tyr153Ser)
14g.53951906T=CA2137819070BMP4c.317A= (p.Tyr106=)
c.242A= (p.Tyr81=)
c.128A= (p.Tyr43=)
c.458A= (p.Tyr153=)
14g.53951907A=CA2137819072BMP4c.316T= (p.Tyr106=)
c.241T= (p.Tyr81=)
c.127T= (p.Tyr43=)
c.457T= (p.Tyr153=)
14g.53951907A>CCA389785107BMP4c.316T>G (p.Tyr106Asp)
c.241T>G (p.Tyr81Asp)
c.127T>G (p.Tyr43Asp)
c.457T>G (p.Tyr153Asp)
14g.53951907A>GCA389785108BMP4c.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
14g.53951907A>TCA389785109BMP4c.316T>A (p.Tyr106Asn)
c.241T>A (p.Tyr81Asn)
c.127T>A (p.Tyr43Asn)
c.457T>A (p.Tyr153Asn)
14g.53951908C>ACA389785110BMP4c.315G>T (p.Glu105Asp)
c.240G>T (p.Glu80Asp)
c.126G>T (p.Glu42Asp)
c.456G>T (p.Glu152Asp)
14g.53951908C=CA2137819079BMP4c.315G= (p.Glu105=)
c.240G= (p.Glu80=)
c.126G= (p.Glu42=)
c.456G= (p.Glu152=)
14g.53951908C>GCA389785111BMP4c.315G>C (p.Glu105Asp)
c.240G>C (p.Glu80Asp)
c.126G>C (p.Glu42Asp)
c.456G>C (p.Glu152Asp)
14g.53951908C>TCA7191795BMP4c.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
14g.53951909T>ACA389785112BMP4c.314A>T (p.Glu105Val)
c.239A>T (p.Glu80Val)
c.125A>T (p.Glu42Val)
c.455A>T (p.Glu152Val)
14g.53951909T>CCA389785113BMP4c.314A>G (p.Glu105Gly)
c.239A>G (p.Glu80Gly)
c.125A>G (p.Glu42Gly)
c.455A>G (p.Glu152Gly)
14g.53951909T>GCA389785114BMP4c.314A>C (p.Glu105Ala)
c.239A>C (p.Glu80Ala)
c.125A>C (p.Glu42Ala)
c.455A>C (p.Glu152Ala)
14g.53951910C>ACA389785115BMP4c.313G>T (p.Glu105Ter)
c.238G>T (p.Glu80Ter)
c.124G>T (p.Glu42Ter)
c.454G>T (p.Glu152Ter)
 gnomAD v4
14g.53951910C=CA2137819084BMP4c.313G= (p.Glu105=)
c.238G= (p.Glu80=)
c.124G= (p.Glu42=)
c.454G= (p.Glu152=)
14g.53951910C>GCA389785117BMP4c.313G>C (p.Glu105Gln)
c.238G>C (p.Glu80Gln)
c.124G>C (p.Glu42Gln)
c.454G>C (p.Glu152Gln)
 gnomAD v4 COSMIC
14g.53951910C>TCA389785116BMP4c.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
14g.53951911A=CA2137819086BMP4c.312T= (p.Leu104=)
c.237T= (p.Leu79=)
c.123T= (p.Leu41=)
c.453T= (p.Leu151=)
14g.53951911A>CCA7191796BMP4c.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
14g.53951911A>GCA486658594BMP4c.312T>C (p.Leu104=)
c.237T>C (p.Leu79=)
c.123T>C (p.Leu41=)
c.453T>C (p.Leu151=)
14g.53951911A>TCA486658596BMP4c.312T>A (p.Leu104=)
c.237T>A (p.Leu79=)
c.123T>A (p.Leu41=)
c.453T>A (p.Leu151=)
14g.53951912A>CCA389785118BMP4c.311T>G (p.Leu104Arg)
c.236T>G (p.Leu79Arg)
c.122T>G (p.Leu41Arg)
c.452T>G (p.Leu151Arg)
14g.53951912A>GCA389785119BMP4c.311T>C (p.Leu104Pro)
c.236T>C (p.Leu79Pro)
c.122T>C (p.Leu41Pro)
c.452T>C (p.Leu151Pro)
14g.53951912A>TCA389785120BMP4c.311T>A (p.Leu104His)
c.236T>A (p.Leu79His)
c.122T>A (p.Leu41His)
c.452T>A (p.Leu151His)
14g.53951913G>ACA389785121BMP4c.310C>T (p.Leu104Phe)
c.235C>T (p.Leu79Phe)
c.121C>T (p.Leu41Phe)
c.451C>T (p.Leu151Phe)
 gnomAD v4
14g.53951913G>CCA389785122BMP4c.310C>G (p.Leu104Val)
c.235C>G (p.Leu79Val)
c.121C>G (p.Leu41Val)
c.451C>G (p.Leu151Val)
 gnomAD v4
14g.53951913G>TCA389785123BMP4c.310C>A (p.Leu104Ile)
c.235C>A (p.Leu79Ile)
c.121C>A (p.Leu41Ile)
c.451C>A (p.Leu151Ile)
 gnomAD v4
14g.53951914A=CA2137819089BMP4c.309T= (p.Gly103=)
c.234T= (p.Gly78=)
c.120T= (p.Gly40=)
c.450T= (p.Gly150=)
14g.53951914A>CCA486658602BMP4c.309T>G (p.Gly103=)
c.234T>G (p.Gly78=)
c.120T>G (p.Gly40=)
c.450T>G (p.Gly150=)
 gnomAD v4
14g.53951914A>GCA486658603BMP4c.309T>C (p.Gly103=)
c.234T>C (p.Gly78=)
c.120T>C (p.Gly40=)
c.450T>C (p.Gly150=)
 dbSNP gnomAD v2 gnomAD v4
14g.53951914A>TCA486658604BMP4c.309T>A (p.Gly103=)
c.234T>A (p.Gly78=)
c.120T>A (p.Gly40=)
c.450T>A (p.Gly150=)
14g.53951915C>ACA389785124BMP4c.308G>T (p.Gly103Val)
c.233G>T (p.Gly78Val)
c.119G>T (p.Gly40Val)
c.449G>T (p.Gly150Val)
14g.53951915C>GCA389785125BMP4c.308G>C (p.Gly103Ala)
c.233G>C (p.Gly78Ala)
c.119G>C (p.Gly40Ala)
c.449G>C (p.Gly150Ala)
14g.53951915C>TCA389785126BMP4c.308G>A (p.Gly103Asp)
c.233G>A (p.Gly78Asp)
c.119G>A (p.Gly40Asp)
c.449G>A (p.Gly150Asp)
14g.53951916C>ACA389785127BMP4c.307G>T (p.Gly103Cys)
c.232G>T (p.Gly78Cys)
c.118G>T (p.Gly40Cys)
c.448G>T (p.Gly150Cys)
14g.53951916C=CA2137819091BMP4c.307G= (p.Gly103=)
c.232G= (p.Gly78=)
c.118G= (p.Gly40=)
c.448G= (p.Gly150=)
14g.53951916C>GCA389785128BMP4c.307G>C (p.Gly103Arg)
c.232G>C (p.Gly78Arg)
c.118G>C (p.Gly40Arg)
c.448G>C (p.Gly150Arg)
14g.53951916C>TCA389785129BMP4c.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
14g.53951917A>CCA486658611BMP4c.306T>G (p.Thr102=)
c.231T>G (p.Thr77=)
c.117T>G (p.Thr39=)
c.447T>G (p.Thr149=)
14g.53951917A>GCA486658610BMP4c.306T>C (p.Thr102=)
c.231T>C (p.Thr77=)
c.117T>C (p.Thr39=)
c.447T>C (p.Thr149=)
14g.53951917A>TCA486658609BMP4c.306T>A (p.Thr102=)
c.231T>A (p.Thr77=)
c.117T>A (p.Thr39=)
c.447T>A (p.Thr149=)
14g.53951918G>ACA7191797BMP4c.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
14g.53951918G>CCA389785131BMP4c.305C>G (p.Thr102Ser)
c.230C>G (p.Thr77Ser)
c.116C>G (p.Thr39Ser)
c.446C>G (p.Thr149Ser)
14g.53951918G=CA2137819098BMP4c.305C= (p.Thr102=)
c.230C= (p.Thr77=)
c.116C= (p.Thr39=)
c.446C= (p.Thr149=)
14g.53951918G>TCA389785130BMP4c.305C>A (p.Thr102Asn)
c.230C>A (p.Thr77Asn)
c.116C>A (p.Thr39Asn)
c.446C>A (p.Thr149Asn)
 gnomAD v4
14g.53951919T>ACA389785132BMP4c.304A>T (p.Thr102Ser)
c.229A>T (p.Thr77Ser)
c.115A>T (p.Thr39Ser)
c.445A>T (p.Thr149Ser)
14g.53951919T>CCA7191798BMP4c.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
14g.53951919T>GCA389785133BMP4c.304A>C (p.Thr102Pro)
c.229A>C (p.Thr77Pro)
c.115A>C (p.Thr39Pro)
c.445A>C (p.Thr149Pro)
 dbSNP gnomAD v4
14g.53951919T=CA2137819102BMP4c.304A= (p.Thr102=)
c.229A= (p.Thr77=)
c.115A= (p.Thr39=)
c.445A= (p.Thr149=)
14g.53951920G>ACA486658612BMP4c.303C>T (p.Ser101=)
c.228C>T (p.Ser76=)
c.114C>T (p.Ser38=)
c.444C>T (p.Ser148=)
 gnomAD v4
14g.53951920G>CCA389785134BMP4c.303C>G (p.Ser101Arg)
c.228C>G (p.Ser76Arg)
c.114C>G (p.Ser38Arg)
c.444C>G (p.Ser148Arg)
14g.53951920G=CA2137819107BMP4c.303C= (p.Ser101=)
c.228C= (p.Ser76=)
c.114C= (p.Ser38=)
c.444C= (p.Ser148=)
14g.53951920G>TCA389785135BMP4c.303C>A (p.Ser101Arg)
c.228C>A (p.Ser76Arg)
c.114C>A (p.Ser38Arg)
c.444C>A (p.Ser148Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.53951921C>ACA389785136BMP4c.302G>T (p.Ser101Ile)
c.227G>T (p.Ser76Ile)
c.113G>T (p.Ser38Ile)
c.443G>T (p.Ser148Ile)
14g.53951921C>GCA389785137BMP4c.302G>C (p.Ser101Thr)
c.227G>C (p.Ser76Thr)
c.113G>C (p.Ser38Thr)
c.443G>C (p.Ser148Thr)
14g.53951921C>TCA389785138BMP4c.302G>A (p.Ser101Asn)
c.227G>A (p.Ser76Asn)
c.113G>A (p.Ser38Asn)
c.443G>A (p.Ser148Asn)
 gnomAD v4
14g.53951922T>ACA389785139BMP4c.301A>T (p.Ser101Cys)
c.226A>T (p.Ser76Cys)
c.112A>T (p.Ser38Cys)
c.442A>T (p.Ser148Cys)
14g.53951922T>CCA389785140BMP4c.301A>G (p.Ser101Gly)
c.226A>G (p.Ser76Gly)
c.112A>G (p.Ser38Gly)
c.442A>G (p.Ser148Gly)
14g.53951922T>GCA389785141BMP4c.301A>C (p.Ser101Arg)
c.226A>C (p.Ser76Arg)
c.112A>C (p.Ser38Arg)
c.442A>C (p.Ser148Arg)
14g.53951923G>ACA486658614BMP4c.300C>T (p.His100=)
c.225C>T (p.His75=)
c.111C>T (p.His37=)
c.441C>T (p.His147=)
 gnomAD v4
14g.53951923G>CCA389785142BMP4c.300C>G (p.His100Gln)
c.225C>G (p.His75Gln)
c.111C>G (p.His37Gln)
c.441C>G (p.His147Gln)
14g.53951923G>TCA389785143BMP4c.300C>A (p.His100Gln)
c.225C>A (p.His75Gln)
c.111C>A (p.His37Gln)
c.441C>A (p.His147Gln)
 gnomAD v4
14g.53951924T>ACA389785144BMP4c.299A>T (p.His100Leu)
c.224A>T (p.His75Leu)
c.110A>T (p.His37Leu)
c.440A>T (p.His147Leu)
14g.53951924T>CCA389785145BMP4c.299A>G (p.His100Arg)
c.224A>G (p.His75Arg)
c.110A>G (p.His37Arg)
c.440A>G (p.His147Arg)
14g.53951924T>GCA389785146BMP4c.299A>C (p.His100Pro)
c.224A>C (p.His75Pro)
c.110A>C (p.His37Pro)
c.440A>C (p.His147Pro)
14g.53951925G>ACA389785147BMP4c.298C>T (p.His100Tyr)
c.223C>T (p.His75Tyr)
c.109C>T (p.His37Tyr)
c.439C>T (p.His147Tyr)
14g.53951925G>CCA389785148BMP4c.298C>G (p.His100Asp)
c.223C>G (p.His75Asp)
c.109C>G (p.His37Asp)
c.439C>G (p.His147Asp)
14g.53951925G>TCA389785149BMP4c.298C>A (p.His100Asn)
c.223C>A (p.His75Asn)
c.109C>A (p.His37Asn)
c.439C>A (p.His147Asn)
 gnomAD v4
14g.53951926G>ACA486658622BMP4c.297C>T (p.Ile99=)
c.222C>T (p.Ile74=)
c.108C>T (p.Ile36=)
c.438C>T (p.Ile146=)
14g.53951926G>CCA389785150BMP4c.297C>G (p.Ile99Met)
c.222C>G (p.Ile74Met)
c.108C>G (p.Ile36Met)
c.438C>G (p.Ile146Met)
14g.53951926G>TCA486658625BMP4c.297C>A (p.Ile99=)
c.222C>A (p.Ile74=)
c.108C>A (p.Ile36=)
c.438C>A (p.Ile146=)
 gnomAD v4
14g.53951927A>CCA389785153BMP4c.296T>G (p.Ile99Ser)
c.221T>G (p.Ile74Ser)
c.107T>G (p.Ile36Ser)
c.437T>G (p.Ile146Ser)
14g.53951927A>GCA389785151BMP4c.296T>C (p.Ile99Thr)
c.221T>C (p.Ile74Thr)
c.107T>C (p.Ile36Thr)
c.437T>C (p.Ile146Thr)
14g.53951927A>TCA389785152BMP4c.296T>A (p.Ile99Asn)
c.221T>A (p.Ile74Asn)
c.107T>A (p.Ile36Asn)
c.437T>A (p.Ile146Asn)
14g.53951928T>ACA389785154BMP4c.295A>T (p.Ile99Phe)
c.220A>T (p.Ile74Phe)
c.106A>T (p.Ile36Phe)
c.436A>T (p.Ile146Phe)
 dbSNP gnomAD v3 gnomAD v4
14g.53951928T>CCA389785155BMP4c.295A>G (p.Ile99Val)
c.220A>G (p.Ile74Val)
c.106A>G (p.Ile36Val)
c.436A>G (p.Ile146Val)
 ClinVar dbSNP gnomAD v4
14g.53951928T>GCA389785156BMP4c.295A>C (p.Ile99Leu)
c.220A>C (p.Ile74Leu)
c.106A>C (p.Ile36Leu)
c.436A>C (p.Ile146Leu)
14g.53951928T=CA2137819112BMP4c.295A= (p.Ile99=)
c.220A= (p.Ile74=)
c.106A= (p.Ile36=)
c.436A= (p.Ile146=)
14g.53951929_53951930delCA2729800166BMP4c.294_295del (p.Gln98HisfsTer7)
c.219_220del (p.Gln73HisfsTer7)
c.105_106del (p.Gln35HisfsTer7)
c.435_436del (p.Gln145HisfsTer7)
 dbSNP
14g.53951929C>ACA389785157BMP4c.294G>T (p.Gln98His)
c.219G>T (p.Gln73His)
c.105G>T (p.Gln35His)
c.435G>T (p.Gln145His)
14g.53951929C>GCA389785158BMP4c.294G>C (p.Gln98His)
c.219G>C (p.Gln73His)
c.105G>C (p.Gln35His)
c.435G>C (p.Gln145His)
14g.53951929C>TCA486658627BMP4c.294G>A (p.Gln98=)
c.219G>A (p.Gln73=)
c.105G>A (p.Gln35=)
c.435G>A (p.Gln145=)
14g.53951930T>ACA389785159BMP4c.293A>T (p.Gln98Leu)
c.218A>T (p.Gln73Leu)
c.104A>T (p.Gln35Leu)
c.434A>T (p.Gln145Leu)
14g.53951930T>CCA389785161BMP4c.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
14g.53951930T>GCA389785160BMP4c.293A>C (p.Gln98Pro)
c.218A>C (p.Gln73Pro)
c.104A>C (p.Gln35Pro)
c.434A>C (p.Gln145Pro)
14g.53951930T=CA2137819115BMP4c.293A= (p.Gln98=)
c.218A= (p.Gln73=)
c.104A= (p.Gln35=)
c.434A= (p.Gln145=)
14g.53951931G>ACA389785162BMP4c.292C>T (p.Gln98Ter)
c.217C>T (p.Gln73Ter)
c.103C>T (p.Gln35Ter)
c.433C>T (p.Gln145Ter)
14g.53951931G>CCA389785163BMP4c.292C>G (p.Gln98Glu)
c.217C>G (p.Gln73Glu)
c.103C>G (p.Gln35Glu)
c.433C>G (p.Gln145Glu)
 gnomAD v4
14g.53951931G>TCA389785164BMP4c.292C>A (p.Gln98Lys)
c.217C>A (p.Gln73Lys)
c.103C>A (p.Gln35Lys)
c.433C>A (p.Gln145Lys)
 gnomAD v4
14g.53951932C>ACA389785165BMP4c.291G>T (p.Glu97Asp)
c.216G>T (p.Glu72Asp)
c.102G>T (p.Glu34Asp)
c.432G>T (p.Glu144Asp)
14g.53951932C=CA2137819119BMP4c.291G= (p.Glu97=)
c.216G= (p.Glu72=)
c.102G= (p.Glu34=)
c.432G= (p.Glu144=)
14g.53951932C>GCA389785166BMP4c.291G>C (p.Glu97Asp)
c.216G>C (p.Glu72Asp)
c.102G>C (p.Glu34Asp)
c.432G>C (p.Glu144Asp)
 dbSNP
14g.53951932C>TCA486658631BMP4c.291G>A (p.Glu97=)
c.216G>A (p.Glu72=)
c.102G>A (p.Glu34=)
c.432G>A (p.Glu144=)
 ClinVar dbSNP
14g.53951933T>ACA389785167BMP4c.290A>T (p.Glu97Val)
c.215A>T (p.Glu72Val)
c.101A>T (p.Glu34Val)
c.431A>T (p.Glu144Val)
14g.53951933T>CCA389785168BMP4c.290A>G (p.Glu97Gly)
c.215A>G (p.Glu72Gly)
c.101A>G (p.Glu34Gly)
c.431A>G (p.Glu144Gly)
 gnomAD v4
14g.53951933T>GCA389785169BMP4c.290A>C (p.Glu97Ala)
c.215A>C (p.Glu72Ala)
c.101A>C (p.Glu34Ala)
c.431A>C (p.Glu144Ala)
14g.53951935_53951937dupCA2801617670BMP4c.288_290dup (p.Glu97_Gln98insGlu)
c.213_215dup (p.Glu72_Gln73insGlu)
c.99_101dup (p.Glu34_Gln35insGlu)
c.429_431dup (p.Glu144_Gln145insGlu)
14g.53951934C>ACA389785170BMP4c.289G>T (p.Glu97Ter)
c.214G>T (p.Glu72Ter)
c.100G>T (p.Glu34Ter)
c.430G>T (p.Glu144Ter)
14g.53951934C=CA2137819123BMP4c.289G= (p.Glu97=)
c.214G= (p.Glu72=)
c.100G= (p.Glu34=)
c.430G= (p.Glu144=)
14g.53951934C>GCA389785171BMP4c.289G>C (p.Glu97Gln)
c.214G>C (p.Glu72Gln)
c.100G>C (p.Glu34Gln)
c.430G>C (p.Glu144Gln)
14g.53951934C>TCA389785172BMP4c.289G>A (p.Glu97Lys)
c.214G>A (p.Glu72Lys)
c.100G>A (p.Glu34Lys)
c.430G>A (p.Glu144Lys)
 dbSNP gnomAD v4
14g.53951935T>ACA389785173BMP4c.288A>T (p.Glu96Asp)
c.213A>T (p.Glu71Asp)
c.99A>T (p.Glu33Asp)
c.429A>T (p.Glu143Asp)
14g.53951935T>CCA10644280BMP4c.288A>G (p.Glu96=)
c.213A>G (p.Glu71=)
c.99A>G (p.Glu33=)
c.429A>G (p.Glu143=)
 ClinVar dbSNP gnomAD v4
14g.53951935T>GCA389785174BMP4c.288A>C (p.Glu96Asp)
c.213A>C (p.Glu71Asp)
c.99A>C (p.Glu33Asp)
c.429A>C (p.Glu143Asp)
14g.53951935T=CA2137819129BMP4c.288A= (p.Glu96=)
c.213A= (p.Glu71=)
c.99A= (p.Glu33=)
c.429A= (p.Glu143=)
14g.53951935_53951938delinsTTCCCA2137819127BMP4c.285_288delinsGGAA (p.Glu95=)
c.210_213delinsGGAA (p.Glu70=)
c.96_99delinsGGAA (p.Glu32=)
c.426_429delinsGGAA (p.Glu142=)
14g.53951936T>ACA389785175BMP4c.287A>T (p.Glu96Val)
c.212A>T (p.Glu71Val)
c.98A>T (p.Glu33Val)
c.428A>T (p.Glu143Val)
14g.53951936T>CCA389785176BMP4c.287A>G (p.Glu96Gly)
c.212A>G (p.Glu71Gly)
c.98A>G (p.Glu33Gly)
c.428A>G (p.Glu143Gly)
14g.53951936T>GCA389785177BMP4c.287A>C (p.Glu96Ala)
c.212A>C (p.Glu71Ala)
c.98A>C (p.Glu33Ala)
c.428A>C (p.Glu143Ala)
 dbSNP gnomAD v3 gnomAD v4
14g.53951936T=CA2137819133BMP4c.287A= (p.Glu96=)
c.212A= (p.Glu71=)
c.98A= (p.Glu33=)
c.428A= (p.Glu143=)
14g.53951945_53951947delCA614278114BMP4c.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
14g.53951937C>ACA389785178BMP4c.286G>T (p.Glu96Ter)
c.211G>T (p.Glu71Ter)
c.97G>T (p.Glu33Ter)
c.427G>T (p.Glu143Ter)
14g.53951937C=CA2137819144BMP4c.286G= (p.Glu96=)
c.211G= (p.Glu71=)
c.97G= (p.Glu33=)
c.427G= (p.Glu143=)
14g.53951937C>GCA389785179BMP4c.286G>C (p.Glu96Gln)
c.211G>C (p.Glu71Gln)
c.97G>C (p.Glu33Gln)
c.427G>C (p.Glu143Gln)
14g.53951937C>TCA389785180BMP4c.286G>A (p.Glu96Lys)
c.211G>A (p.Glu71Lys)
c.97G>A (p.Glu33Lys)
c.427G>A (p.Glu143Lys)
 dbSNP gnomAD v2 gnomAD v4
14g.53951938C>ACA389785181BMP4c.285G>T (p.Glu95Asp)
c.210G>T (p.Glu70Asp)
c.96G>T (p.Glu32Asp)
c.426G>T (p.Glu142Asp)
14g.53951938C>GCA389785182BMP4c.285G>C (p.Glu95Asp)
c.210G>C (p.Glu70Asp)
c.96G>C (p.Glu32Asp)
c.426G>C (p.Glu142Asp)
14g.53951938C>TCA486658633BMP4c.285G>A (p.Glu95=)
c.210G>A (p.Glu70=)
c.96G>A (p.Glu32=)
c.426G>A (p.Glu142=)
 gnomAD v4
14g.53951939T>ACA389785183BMP4c.284A>T (p.Glu95Val)
c.209A>T (p.Glu70Val)
c.95A>T (p.Glu32Val)
c.425A>T (p.Glu142Val)
14g.53951939T>CCA389785184BMP4c.284A>G (p.Glu95Gly)
c.209A>G (p.Glu70Gly)
c.95A>G (p.Glu32Gly)
c.425A>G (p.Glu142Gly)
 dbSNP
14g.53951939T>GCA389785185BMP4c.284A>C (p.Glu95Ala)
c.209A>C (p.Glu70Ala)
c.95A>C (p.Glu32Ala)
c.425A>C (p.Glu142Ala)
14g.53951939T=CA2137819147BMP4c.284A= (p.Glu95=)
c.209A= (p.Glu70=)
c.95A= (p.Glu32=)
c.425A= (p.Glu142=)
14g.53951940_53951941insTTCCA2575530840BMP4c.284_285insAGA (p.Glu95_Glu96insGlu)
c.209_210insAGA (p.Glu70_Glu71insGlu)
c.95_96insAGA (p.Glu32_Glu33insGlu)
c.425_426insAGA (p.Glu142_Glu143insGlu)
14g.53951940C>ACA389785188BMP4c.283G>T (p.Glu95Ter)
c.208G>T (p.Glu70Ter)
c.94G>T (p.Glu32Ter)
c.424G>T (p.Glu142Ter)
14g.53951940C=CA2137819149BMP4c.283G= (p.Glu95=)
c.208G= (p.Glu70=)
c.94G= (p.Glu32=)
c.424G= (p.Glu142=)
14g.53951940C>GCA389785187BMP4c.283G>C (p.Glu95Gln)
c.208G>C (p.Glu70Gln)
c.94G>C (p.Glu32Gln)
c.424G>C (p.Glu142Gln)
14g.53951940C>TCA389785186BMP4c.283G>A (p.Glu95Lys)
c.208G>A (p.Glu70Lys)
c.94G>A (p.Glu32Lys)
c.424G>A (p.Glu142Lys)
 dbSNP gnomAD v2
14g.53951941C>ACA389785189BMP4c.282G>T (p.Glu94Asp)
c.207G>T (p.Glu69Asp)
c.93G>T (p.Glu31Asp)
c.423G>T (p.Glu141Asp)
14g.53951941C>GCA389785190BMP4c.282G>C (p.Glu94Asp)
c.207G>C (p.Glu69Asp)
c.93G>C (p.Glu31Asp)
c.423G>C (p.Glu141Asp)
14g.53951941C>TCA486658637BMP4c.282G>A (p.Glu94=)
c.207G>A (p.Glu69=)
c.93G>A (p.Glu31=)
c.423G>A (p.Glu141=)
14g.53951942T>ACA389785191BMP4c.281A>T (p.Glu94Val)
c.206A>T (p.Glu69Val)
c.92A>T (p.Glu31Val)
c.422A>T (p.Glu141Val)
14g.53951942T>CCA389785192BMP4c.281A>G (p.Glu94Gly)
c.206A>G (p.Glu69Gly)
c.92A>G (p.Glu31Gly)
c.422A>G (p.Glu141Gly)
 gnomAD v4
14g.53951942T>GCA389785193BMP4c.281A>C (p.Glu94Ala)
c.206A>C (p.Glu69Ala)
c.92A>C (p.Glu31Ala)
c.422A>C (p.Glu141Ala)
14g.53951943C>ACA389785194BMP4c.280G>T (p.Glu94Ter)
c.205G>T (p.Glu69Ter)
c.91G>T (p.Glu31Ter)
c.421G>T (p.Glu141Ter)
14g.53951943C=CA2137819152BMP4c.280G= (p.Glu94=)
c.205G= (p.Glu69=)
c.91G= (p.Glu31=)
c.421G= (p.Glu141=)
14g.53951943C>GCA389785195BMP4c.280G>C (p.Glu94Gln)
c.205G>C (p.Glu69Gln)
c.91G>C (p.Glu31Gln)
c.421G>C (p.Glu141Gln)
 dbSNP gnomAD v4
14g.53951943C>TCA389785196BMP4c.280G>A (p.Glu94Lys)
c.205G>A (p.Glu69Lys)
c.91G>A (p.Glu31Lys)
c.421G>A (p.Glu141Lys)
 ClinVar gnomAD v4
14g.53951944C>ACA389785197BMP4c.279G>T (p.Glu93Asp)
c.204G>T (p.Glu68Asp)
c.90G>T (p.Glu30Asp)
c.420G>T (p.Glu140Asp)
14g.53951944C>GCA389785198BMP4c.279G>C (p.Glu93Asp)
c.204G>C (p.Glu68Asp)
c.90G>C (p.Glu30Asp)
c.420G>C (p.Glu140Asp)
14g.53951944C>TCA486658645BMP4c.279G>A (p.Glu93=)
c.204G>A (p.Glu68=)
c.90G>A (p.Glu30=)
c.420G>A (p.Glu140=)
14g.53951945T>ACA389785199BMP4c.278A>T (p.Glu93Val)
c.203A>T (p.Glu68Val)
c.89A>T (p.Glu30Val)
c.419A>T (p.Glu140Val)
14g.53951945T>CCA258061BMP4c.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
14g.53951945T>GCA389785200BMP4c.278A>C (p.Glu93Ala)
c.203A>C (p.Glu68Ala)
c.89A>C (p.Glu30Ala)
c.419A>C (p.Glu140Ala)
14g.53951945T=CA2137819156BMP4c.278A= (p.Glu93=)
c.203A= (p.Glu68=)
c.89A= (p.Glu30=)
c.419A= (p.Glu140=)
14g.53951946C>ACA389785202BMP4c.277G>T (p.Glu93Ter)
c.202G>T (p.Glu68Ter)
c.88G>T (p.Glu30Ter)
c.418G>T (p.Glu140Ter)
 ClinVar
14g.53951946C>GCA389785203BMP4c.277G>C (p.Glu93Gln)
c.202G>C (p.Glu68Gln)
c.88G>C (p.Glu30Gln)
c.418G>C (p.Glu140Gln)
 gnomAD v4
14g.53951946C>TCA389785201BMP4c.277G>A (p.Glu93Lys)
c.202G>A (p.Glu68Lys)
c.88G>A (p.Glu30Lys)
c.418G>A (p.Glu140Lys)
 gnomAD v4
14g.53951949delCA2624918606BMP4c.277del (p.Glu93ArgfsTer25)
c.202del (p.Glu68ArgfsTer25)
c.88del (p.Glu30ArgfsTer25)
c.277del (p.Glu93ArgfsTer?)
c.418del (p.Glu140ArgfsTer25)
 gnomAD v4
14g.53951947C>ACA486658649BMP4c.276G>T (p.Gly92=)
c.201G>T (p.Gly67=)
c.87G>T (p.Gly29=)
c.417G>T (p.Gly139=)
14g.53951947C=CA2137819160BMP4c.276G= (p.Gly92=)
c.201G= (p.Gly67=)
c.87G= (p.Gly29=)
c.417G= (p.Gly139=)
14g.53951947C>GCA486658650BMP4c.276G>C (p.Gly92=)
c.201G>C (p.Gly67=)
c.87G>C (p.Gly29=)
c.417G>C (p.Gly139=)
14g.53951947C>TCA7191799BMP4c.276G>A (p.Gly92=)
c.201G>A (p.Gly67=)
c.87G>A (p.Gly29=)
c.417G>A (p.Gly139=)
 dbSNP ExAC gnomAD v2

Number of alleles fetched