Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.53950700_53950722delCA2740097932BMP4c.539_561del (p.Ile180SerfsTer29)
c.397_419del (n.397_419del)
c.350_372del (p.Ile117SerfsTer29)
c.680_702del (p.Ile227SerfsTer29)
 ClinVar
14g.53950711_53950728dupCA614278085BMP4c.534_551dup (p.Val183_Met184insIleAsnIleTyrGluVal)
c.392_409dup (n.392_409dup)
c.345_362dup (p.Val120_Met121insIleAsnIleTyrGluVal)
c.675_692dup (p.Val230_Met231insIleAsnIleTyrGluVal)
 dbSNP gnomAD v2 gnomAD v4
14g.53950712C>ACA389784456BMP4c.547G>T (p.Val183Phe)
c.405G>T (n.405G>T)
c.358G>T (p.Val120Phe)
c.688G>T (p.Val230Phe)
14g.53950712C=CA2137817666BMP4c.547G= (p.Val183=)
c.405G= (n.405G=)
c.358G= (p.Val120=)
c.688G= (p.Val230=)
14g.53950712C>GCA389784457BMP4c.547G>C (p.Val183Leu)
c.405G>C (n.405G>C)
c.358G>C (p.Val120Leu)
c.688G>C (p.Val230Leu)
14g.53950712C>TCA261472678BMP4c.547G>A (p.Val183Ile)
c.405G>A (n.405G>A)
c.358G>A (p.Val120Ile)
c.688G>A (p.Val230Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53950713C>ACA389784458BMP4c.546G>T (p.Glu182Asp)
c.404G>T (n.404G>T)
c.357G>T (p.Glu119Asp)
c.687G>T (p.Glu229Asp)
14g.53950713C=CA2137817669BMP4c.546G= (p.Glu182=)
c.404G= (n.404G=)
c.357G= (p.Glu119=)
c.687G= (p.Glu229=)
14g.53950713C>GCA389784459BMP4c.546G>C (p.Glu182Asp)
c.404G>C (n.404G>C)
c.357G>C (p.Glu119Asp)
c.687G>C (p.Glu229Asp)
14g.53950713C>TCA7191721BMP4c.546G>A (p.Glu182=)
c.404G>A (n.404G>A)
c.357G>A (p.Glu119=)
c.687G>A (p.Glu229=)
 dbSNP ExAC gnomAD v2
14g.53950714T>ACA389784460BMP4c.545A>T (p.Glu182Val)
c.403A>T (n.403A>T)
c.356A>T (p.Glu119Val)
c.686A>T (p.Glu229Val)
14g.53950714T>CCA389784461BMP4c.545A>G (p.Glu182Gly)
c.403A>G (n.403A>G)
c.356A>G (p.Glu119Gly)
c.686A>G (p.Glu229Gly)
14g.53950714T>GCA389784462BMP4c.545A>C (p.Glu182Ala)
c.403A>C (n.403A>C)
c.356A>C (p.Glu119Ala)
c.686A>C (p.Glu229Ala)
14g.53950715C>ACA389784463BMP4c.544G>T (p.Glu182Ter)
c.402G>T (n.402G>T)
c.355G>T (p.Glu119Ter)
c.685G>T (p.Glu229Ter)
14g.53950715C>GCA389784464BMP4c.544G>C (p.Glu182Gln)
c.402G>C (n.402G>C)
c.355G>C (p.Glu119Gln)
c.685G>C (p.Glu229Gln)
14g.53950715C>TCA389784465BMP4c.544G>A (p.Glu182Lys)
c.402G>A (n.402G>A)
c.355G>A (p.Glu119Lys)
c.685G>A (p.Glu229Lys)
14g.53950716A=CA2137817672BMP4c.543T= (p.Tyr181=)
c.401T= (n.401T=)
c.354T= (p.Tyr118=)
c.684T= (p.Tyr228=)
14g.53950716A>CCA389784466BMP4c.543T>G (p.Tyr181Ter)
c.401T>G (n.401T>G)
c.354T>G (p.Tyr118Ter)
c.684T>G (p.Tyr228Ter)
14g.53950716A>GCA486658450BMP4c.543T>C (p.Tyr181=)
c.401T>C (n.401T>C)
c.354T>C (p.Tyr118=)
c.684T>C (p.Tyr228=)
 dbSNP gnomAD v4
14g.53950716A>TCA389784467BMP4c.543T>A (p.Tyr181Ter)
c.401T>A (n.401T>A)
c.354T>A (p.Tyr118Ter)
c.684T>A (p.Tyr228Ter)
14g.53950717T>ACA389784470BMP4c.542A>T (p.Tyr181Phe)
c.400A>T (n.400A>T)
c.353A>T (p.Tyr118Phe)
c.683A>T (p.Tyr228Phe)
14g.53950717T>CCA389784468BMP4c.542A>G (p.Tyr181Cys)
c.400A>G (n.400A>G)
c.353A>G (p.Tyr118Cys)
c.683A>G (p.Tyr228Cys)
14g.53950717T>GCA389784469BMP4c.542A>C (p.Tyr181Ser)
c.400A>C (n.400A>C)
c.353A>C (p.Tyr118Ser)
c.683A>C (p.Tyr228Ser)
14g.53950718A>CCA389784471BMP4c.541T>G (p.Tyr181Asp)
c.399T>G (n.399T>G)
c.352T>G (p.Tyr118Asp)
c.682T>G (p.Tyr228Asp)
14g.53950718A>GCA389784472BMP4c.541T>C (p.Tyr181His)
c.399T>C (n.399T>C)
c.352T>C (p.Tyr118His)
c.682T>C (p.Tyr228His)
14g.53950718A>TCA389784473BMP4c.541T>A (p.Tyr181Asn)
c.399T>A (n.399T>A)
c.352T>A (p.Tyr118Asn)
c.682T>A (p.Tyr228Asn)
14g.53950719A>CCA389784474BMP4c.540T>G (p.Ile180Met)
c.398T>G (n.398T>G)
c.351T>G (p.Ile117Met)
c.681T>G (p.Ile227Met)
14g.53950719A>GCA486658457BMP4c.540T>C (p.Ile180=)
c.398T>C (n.398T>C)
c.351T>C (p.Ile117=)
c.681T>C (p.Ile227=)
14g.53950719A>TCA486658458BMP4c.540T>A (p.Ile180=)
c.398T>A (n.398T>A)
c.351T>A (p.Ile117=)
c.681T>A (p.Ile227=)
14g.53950720A>CCA389784475BMP4c.539T>G (p.Ile180Ser)
c.397T>G (n.397T>G)
c.350T>G (p.Ile117Ser)
c.680T>G (p.Ile227Ser)
14g.53950720A>GCA389784476BMP4c.539T>C (p.Ile180Thr)
c.397T>C (n.397T>C)
c.350T>C (p.Ile117Thr)
c.680T>C (p.Ile227Thr)
14g.53950720A>TCA389784477BMP4c.539T>A (p.Ile180Asn)
c.397T>A (n.397T>A)
c.350T>A (p.Ile117Asn)
c.680T>A (p.Ile227Asn)
14g.53950721T>ACA389784478BMP4c.538A>T (p.Ile180Phe)
c.396A>T (n.396A>T)
c.349A>T (p.Ile117Phe)
c.679A>T (p.Ile227Phe)
14g.53950721T>CCA389784479BMP4c.538A>G (p.Ile180Val)
c.396A>G (n.396A>G)
c.349A>G (p.Ile117Val)
c.679A>G (p.Ile227Val)
 dbSNP gnomAD v2 gnomAD v4
14g.53950721T>GCA389784480BMP4c.538A>C (p.Ile180Leu)
c.396A>C (n.396A>C)
c.349A>C (p.Ile117Leu)
c.679A>C (p.Ile227Leu)
14g.53950721T=CA2137817676BMP4c.538A= (p.Ile180=)
c.396A= (n.396A=)
c.349A= (p.Ile117=)
c.679A= (p.Ile227=)
14g.53950722G>ACA486658461BMP4c.537C>T (p.Asn179=)
c.395C>T (n.395C>T)
c.348C>T (p.Asn116=)
c.678C>T (p.Asn226=)
 gnomAD v4
14g.53950722G>CCA389784481BMP4c.537C>G (p.Asn179Lys)
c.395C>G (n.395C>G)
c.348C>G (p.Asn116Lys)
c.678C>G (p.Asn226Lys)
14g.53950722G>TCA389784482BMP4c.537C>A (p.Asn179Lys)
c.395C>A (n.395C>A)
c.348C>A (p.Asn116Lys)
c.678C>A (p.Asn226Lys)
14g.53950723T>ACA389784485BMP4c.536A>T (p.Asn179Ile)
c.394A>T (n.394A>T)
c.347A>T (p.Asn116Ile)
c.677A>T (p.Asn226Ile)
14g.53950723T>CCA389784484BMP4c.536A>G (p.Asn179Ser)
c.394A>G (n.394A>G)
c.347A>G (p.Asn116Ser)
c.677A>G (p.Asn226Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.53950723T>GCA389784483BMP4c.536A>C (p.Asn179Thr)
c.394A>C (n.394A>C)
c.347A>C (p.Asn116Thr)
c.677A>C (p.Asn226Thr)
14g.53950723T=CA2137817680BMP4c.536A= (p.Asn179=)
c.394A= (n.394A=)
c.347A= (p.Asn116=)
c.677A= (p.Asn226=)
14g.53950724T>ACA389784486BMP4c.535A>T (p.Asn179Tyr)
c.393A>T (n.393A>T)
c.346A>T (p.Asn116Tyr)
c.676A>T (p.Asn226Tyr)
14g.53950724T>CCA389784487BMP4c.535A>G (p.Asn179Asp)
c.393A>G (n.393A>G)
c.346A>G (p.Asn116Asp)
c.676A>G (p.Asn226Asp)
14g.53950724T>GCA389784488BMP4c.535A>C (p.Asn179His)
c.393A>C (n.393A>C)
c.346A>C (p.Asn116His)
c.676A>C (p.Asn226His)
14g.53950725T>ACA486658468BMP4c.534A>T (p.Ile178=)
c.392A>T (n.392A>T)
c.345A>T (p.Ile115=)
c.675A>T (p.Ile225=)
14g.53950725T>CCA389784489BMP4c.534A>G (p.Ile178Met)
c.392A>G (n.392A>G)
c.345A>G (p.Ile115Met)
c.675A>G (p.Ile225Met)
14g.53950725T>GCA486658467BMP4c.534A>C (p.Ile178=)
c.392A>C (n.392A>C)
c.345A>C (p.Ile115=)
c.675A>C (p.Ile225=)
 gnomAD v4
14g.53950726A>CCA389784490BMP4c.533T>G (p.Ile178Arg)
c.391T>G (n.391T>G)
c.344T>G (p.Ile115Arg)
c.674T>G (p.Ile225Arg)
14g.53950726A>GCA389784491BMP4c.533T>C (p.Ile178Thr)
c.391T>C (n.391T>C)
c.344T>C (p.Ile115Thr)
c.674T>C (p.Ile225Thr)
14g.53950726A>TCA389784492BMP4c.533T>A (p.Ile178Lys)
c.391T>A (n.391T>A)
c.344T>A (p.Ile115Lys)
c.674T>A (p.Ile225Lys)
14g.53950727T>ACA389784493BMP4c.532A>T (p.Ile178Leu)
c.390A>T (n.390A>T)
c.343A>T (p.Ile115Leu)
c.673A>T (p.Ile225Leu)
14g.53950727T>CCA389784494BMP4c.532A>G (p.Ile178Val)
c.390A>G (n.390A>G)
c.343A>G (p.Ile115Val)
c.673A>G (p.Ile225Val)
 gnomAD v4
14g.53950727T>GCA389784495BMP4c.532A>C (p.Ile178Leu)
c.390A>C (n.390A>C)
c.343A>C (p.Ile115Leu)
c.673A>C (p.Ile225Leu)
14g.53950728A>CCA486658473BMP4c.531T>G (p.Arg177=)
c.389T>G (n.389T>G)
c.342T>G (p.Arg114=)
c.672T>G (p.Arg224=)
14g.53950728A>GCA486658474BMP4c.531T>C (p.Arg177=)
c.389T>C (n.389T>C)
c.342T>C (p.Arg114=)
c.672T>C (p.Arg224=)
14g.53950728A>TCA486658475BMP4c.531T>A (p.Arg177=)
c.389T>A (n.389T>A)
c.342T>A (p.Arg114=)
c.672T>A (p.Arg224=)
14g.53950729C>ACA389784496BMP4c.530G>T (p.Arg177Leu)
c.388G>T (n.388G>T)
c.341G>T (p.Arg114Leu)
c.671G>T (p.Arg224Leu)
 gnomAD v3 gnomAD v4
14g.53950729C=CA2137817684BMP4c.530G= (p.Arg177=)
c.388G= (n.388G=)
c.341G= (p.Arg114=)
c.671G= (p.Arg224=)
14g.53950729C>GCA389784497BMP4c.530G>C (p.Arg177Pro)
c.388G>C (n.388G>C)
c.341G>C (p.Arg114Pro)
c.671G>C (p.Arg224Pro)
14g.53950729C>TCA7191722BMP4c.530G>A (p.Arg177His)
c.388G>A (n.388G>A)
c.341G>A (p.Arg114His)
c.671G>A (p.Arg224His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950729_53950732delinsCGGTCA2137817687BMP4c.527_530delinsACCG (p.His176=)
c.385_388delinsACCG (n.385_388delinsACCG)
c.338_341delinsACCG (p.His113=)
c.668_671delinsACCG (p.His223=)
14g.53950730G>ACA389784499BMP4c.529C>T (p.Arg177Cys)
c.387C>T (n.387C>T)
c.340C>T (p.Arg114Cys)
c.670C>T (p.Arg224Cys)
 dbSNP gnomAD v2 gnomAD v4
14g.53950730G>CCA389784500BMP4c.529C>G (p.Arg177Gly)
c.387C>G (n.387C>G)
c.340C>G (p.Arg114Gly)
c.670C>G (p.Arg224Gly)
14g.53950730G=CA2137817697BMP4c.529C= (p.Arg177=)
c.387C= (n.387C=)
c.340C= (p.Arg114=)
c.670C= (p.Arg224=)
14g.53950730G>TCA389784498BMP4c.529C>A (p.Arg177Ser)
c.387C>A (n.387C>A)
c.340C>A (p.Arg114Ser)
c.670C>A (p.Arg224Ser)
 dbSNP
14g.53950732_53950734delCA614278086BMP4c.527_529del (p.His176del)
c.385_387del (n.385_387del)
c.338_340del (p.His113del)
c.668_670del (p.His223del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53950731G>ACA486658479BMP4c.528C>T (p.His176=)
c.386C>T (n.386C>T)
c.339C>T (p.His113=)
c.669C>T (p.His223=)
 gnomAD v4 COSMIC
14g.53950731G>CCA389784501BMP4c.528C>G (p.His176Gln)
c.386C>G (n.386C>G)
c.339C>G (p.His113Gln)
c.669C>G (p.His223Gln)
14g.53950731G=CA2137817701BMP4c.528C= (p.His176=)
c.386C= (n.386C=)
c.339C= (p.His113=)
c.669C= (p.His223=)
14g.53950731G>TCA389784502BMP4c.528C>A (p.His176Gln)
c.386C>A (n.386C>A)
c.339C>A (p.His113Gln)
c.669C>A (p.His223Gln)
 dbSNP gnomAD v2
14g.53950732T>ACA389784503BMP4c.527A>T (p.His176Leu)
c.385A>T (n.385A>T)
c.338A>T (p.His113Leu)
c.668A>T (p.His223Leu)
14g.53950732T>CCA389784504BMP4c.527A>G (p.His176Arg)
c.385A>G (n.385A>G)
c.338A>G (p.His113Arg)
c.668A>G (p.His223Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.53950732T>GCA389784505BMP4c.527A>C (p.His176Pro)
c.385A>C (n.385A>C)
c.338A>C (p.His113Pro)
c.668A>C (p.His223Pro)
14g.53950732T=CA2137817708BMP4c.527A= (p.His176=)
c.385A= (n.385A=)
c.338A= (p.His113=)
c.668A= (p.His223=)
14g.53950733G>ACA389784506BMP4c.526C>T (p.His176Tyr)
c.384C>T (n.384C>T)
c.337C>T (p.His113Tyr)
c.667C>T (p.His223Tyr)
 COSMIC
14g.53950733G>CCA389784507BMP4c.526C>G (p.His176Asp)
c.384C>G (n.384C>G)
c.337C>G (p.His113Asp)
c.667C>G (p.His223Asp)
14g.53950733G>TCA389784508BMP4c.526C>A (p.His176Asn)
c.384C>A (n.384C>A)
c.337C>A (p.His113Asn)
c.667C>A (p.His223Asn)
14g.53950734G>ACA486658486BMP4c.525C>T (p.Phe175=)
c.383C>T (n.383C>T)
c.336C>T (p.Phe112=)
c.666C>T (p.Phe222=)
14g.53950734G>CCA389784509BMP4c.525C>G (p.Phe175Leu)
c.383C>G (n.383C>G)
c.336C>G (p.Phe112Leu)
c.666C>G (p.Phe222Leu)
14g.53950734G>TCA389784510BMP4c.525C>A (p.Phe175Leu)
c.383C>A (n.383C>A)
c.336C>A (p.Phe112Leu)
c.666C>A (p.Phe222Leu)
14g.53950735A>CCA389784511BMP4c.524T>G (p.Phe175Cys)
c.382T>G (n.382T>G)
c.335T>G (p.Phe112Cys)
c.665T>G (p.Phe222Cys)
14g.53950735A>GCA389784512BMP4c.524T>C (p.Phe175Ser)
c.382T>C (n.382T>C)
c.335T>C (p.Phe112Ser)
c.665T>C (p.Phe222Ser)
14g.53950735A>TCA389784513BMP4c.524T>A (p.Phe175Tyr)
c.382T>A (n.382T>A)
c.335T>A (p.Phe112Tyr)
c.665T>A (p.Phe222Tyr)
14g.53950736A>CCA389784516BMP4c.523T>G (p.Phe175Val)
c.381T>G (n.381T>G)
c.334T>G (p.Phe112Val)
c.664T>G (p.Phe222Val)
14g.53950736A>GCA389784515BMP4c.523T>C (p.Phe175Leu)
c.381T>C (n.381T>C)
c.334T>C (p.Phe112Leu)
c.664T>C (p.Phe222Leu)
14g.53950736A>TCA389784514BMP4c.523T>A (p.Phe175Ile)
c.381T>A (n.381T>A)
c.334T>A (p.Phe112Ile)
c.664T>A (p.Phe222Ile)
14g.53950737G>ACA486658492BMP4c.522C>T (p.Gly174=)
c.380C>T (n.380C>T)
c.333C>T (p.Gly111=)
c.663C>T (p.Gly221=)
 COSMIC
14g.53950737G>CCA486658495BMP4c.522C>G (p.Gly174=)
c.380C>G (n.380C>G)
c.333C>G (p.Gly111=)
c.663C>G (p.Gly221=)
14g.53950737G>TCA486658496BMP4c.522C>A (p.Gly174=)
c.380C>A (n.380C>A)
c.333C>A (p.Gly111=)
c.663C>A (p.Gly221=)
14g.53950738C>ACA389784517BMP4c.521G>T (p.Gly174Val)
c.379G>T (n.379G>T)
c.332G>T (p.Gly111Val)
c.662G>T (p.Gly221Val)
 gnomAD v4
14g.53950738C=CA2137817714BMP4c.521G= (p.Gly174=)
c.379G= (n.379G=)
c.332G= (p.Gly111=)
c.662G= (p.Gly221=)
14g.53950738C>GCA389784518BMP4c.521G>C (p.Gly174Ala)
c.379G>C (n.379G>C)
c.332G>C (p.Gly111Ala)
c.662G>C (p.Gly221Ala)
 COSMIC
14g.53950738C>TCA389784519BMP4c.521G>A (p.Gly174Asp)
c.379G>A (n.379G>A)
c.332G>A (p.Gly111Asp)
c.662G>A (p.Gly221Asp)
 ClinVar dbSNP gnomAD v4
14g.53950741dupCA2695219358BMP4c.521dup (p.Phe175LeufsTer8)
c.379dup (n.379dup)
c.332dup (p.Phe112LeufsTer8)
c.662dup (p.Phe222LeufsTer8)
14g.53950739C>ACA389784520BMP4c.520G>T (p.Gly174Cys)
c.378G>T (n.378G>T)
c.331G>T (p.Gly111Cys)
c.661G>T (p.Gly221Cys)
14g.53950739C=CA2137817718BMP4c.520G= (p.Gly174=)
c.378G= (n.378G=)
c.331G= (p.Gly111=)
c.661G= (p.Gly221=)
14g.53950739C>GCA389784521BMP4c.520G>C (p.Gly174Arg)
c.378G>C (n.378G>C)
c.331G>C (p.Gly111Arg)
c.661G>C (p.Gly221Arg)
14g.53950739C>TCA389784522BMP4c.520G>A (p.Gly174Ser)
c.378G>A (n.378G>A)
c.331G>A (p.Gly111Ser)
c.661G>A (p.Gly221Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.53950740C>ACA389784523BMP4c.519G>T (p.Arg173Ser)
c.377G>T (n.377G>T)
c.330G>T (p.Arg110Ser)
c.660G>T (p.Arg220Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.53950740C=CA2137817722BMP4c.519G= (p.Arg173=)
c.377G= (n.377G=)
c.330G= (p.Arg110=)
c.660G= (p.Arg220=)
14g.53950740C>GCA389784524BMP4c.519G>C (p.Arg173Ser)
c.377G>C (n.377G>C)
c.330G>C (p.Arg110Ser)
c.660G>C (p.Arg220Ser)
14g.53950740C>TCA486658504BMP4c.519G>A (p.Arg173=)
c.377G>A (n.377G>A)
c.330G>A (p.Arg110=)
c.660G>A (p.Arg220=)
 ClinVar
14g.53950741C>ACA389784525BMP4c.518G>T (p.Arg173Met)
c.376G>T (n.376G>T)
c.329G>T (p.Arg110Met)
c.659G>T (p.Arg220Met)
14g.53950741C=CA2137817730BMP4c.518G= (p.Arg173=)
c.376G= (n.376G=)
c.329G= (p.Arg110=)
c.659G= (p.Arg220=)
14g.53950741C>GCA389784526BMP4c.518G>C (p.Arg173Thr)
c.376G>C (n.376G>C)
c.329G>C (p.Arg110Thr)
c.659G>C (p.Arg220Thr)
 dbSNP gnomAD v4
14g.53950741C>TCA389784527BMP4c.518G>A (p.Arg173Lys)
c.376G>A (n.376G>A)
c.329G>A (p.Arg110Lys)
c.659G>A (p.Arg220Lys)
14g.53950742T>ACA389784528BMP4c.517A>T (p.Arg173Trp)
c.375A>T (n.375A>T)
c.328A>T (p.Arg110Trp)
c.658A>T (p.Arg220Trp)
14g.53950742T>CCA389784529BMP4c.517A>G (p.Arg173Gly)
c.375A>G (n.375A>G)
c.328A>G (p.Arg110Gly)
c.658A>G (p.Arg220Gly)
 gnomAD v4
14g.53950742T>GCA486658505BMP4c.517A>C (p.Arg173=)
c.375A>C (n.375A>C)
c.328A>C (p.Arg110=)
c.658A>C (p.Arg220=)
14g.53950743T>ACA389784530BMP4c.516A>T (p.Glu172Asp)
c.374A>T (n.374A>T)
c.327A>T (p.Glu109Asp)
c.657A>T (p.Glu219Asp)
14g.53950743T>CCA486658507BMP4c.516A>G (p.Glu172=)
c.374A>G (n.374A>G)
c.327A>G (p.Glu109=)
c.657A>G (p.Glu219=)
14g.53950743T>GCA389784531BMP4c.516A>C (p.Glu172Asp)
c.374A>C (n.374A>C)
c.327A>C (p.Glu109Asp)
c.657A>C (p.Glu219Asp)
14g.53950744T>ACA389784532BMP4c.515A>T (p.Glu172Val)
c.373A>T (n.373A>T)
c.326A>T (p.Glu109Val)
c.656A>T (p.Glu219Val)
14g.53950744T>CCA389784533BMP4c.515A>G (p.Glu172Gly)
c.373A>G (n.373A>G)
c.326A>G (p.Glu109Gly)
c.656A>G (p.Glu219Gly)
14g.53950744T>GCA389784534BMP4c.515A>C (p.Glu172Ala)
c.373A>C (n.373A>C)
c.326A>C (p.Glu109Ala)
c.656A>C (p.Glu219Ala)
14g.53950745C>ACA389784535BMP4c.514G>T (p.Glu172Ter)
c.372G>T (n.372G>T)
c.325G>T (p.Glu109Ter)
c.655G>T (p.Glu219Ter)
14g.53950745C=CA2137817733BMP4c.514G= (p.Glu172=)
c.372G= (n.372G=)
c.325G= (p.Glu109=)
c.655G= (p.Glu219=)
14g.53950745C>GCA389784536BMP4c.514G>C (p.Glu172Gln)
c.372G>C (n.372G>C)
c.325G>C (p.Glu109Gln)
c.655G>C (p.Glu219Gln)
14g.53950745C>TCA7191723BMP4c.514G>A (p.Glu172Lys)
c.372G>A (n.372G>A)
c.325G>A (p.Glu109Lys)
c.655G>A (p.Glu219Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950746C>ACA389784537BMP4c.513G>T (p.Trp171Cys)
c.371G>T (n.371G>T)
c.324G>T (p.Trp108Cys)
c.654G>T (p.Trp218Cys)
14g.53950746C=CA2137817735BMP4c.513G= (p.Trp171=)
c.371G= (n.371G=)
c.324G= (p.Trp108=)
c.654G= (p.Trp218=)
14g.53950746C>GCA389784538BMP4c.513G>C (p.Trp171Cys)
c.371G>C (n.371G>C)
c.324G>C (p.Trp108Cys)
c.654G>C (p.Trp218Cys)
14g.53950746C>TCA389784539BMP4c.513G>A (p.Trp171Ter)
c.371G>A (n.371G>A)
c.324G>A (p.Trp108Ter)
c.654G>A (p.Trp218Ter)
 dbSNP
14g.53950747C>ACA389784540BMP4c.512G>T (p.Trp171Leu)
c.370G>T (n.370G>T)
c.323G>T (p.Trp108Leu)
c.653G>T (p.Trp218Leu)
14g.53950747C=CA2137817738BMP4c.512G= (p.Trp171=)
c.370G= (n.370G=)
c.323G= (p.Trp108=)
c.653G= (p.Trp218=)
14g.53950747C>GCA389784541BMP4c.512G>C (p.Trp171Ser)
c.370G>C (n.370G>C)
c.323G>C (p.Trp108Ser)
c.653G>C (p.Trp218Ser)
14g.53950747C>TCA16619873BMP4c.512G>A (p.Trp171Ter)
c.370G>A (n.370G>A)
c.323G>A (p.Trp108Ter)
c.653G>A (p.Trp218Ter)
 ClinVar dbSNP
14g.53950748A>CCA389784544BMP4c.511T>G (p.Trp171Gly)
c.369T>G (n.369T>G)
c.322T>G (p.Trp108Gly)
c.652T>G (p.Trp218Gly)
14g.53950748A>GCA389784542BMP4c.511T>C (p.Trp171Arg)
c.369T>C (n.369T>C)
c.322T>C (p.Trp108Arg)
c.652T>C (p.Trp218Arg)
14g.53950748A>TCA389784543BMP4c.511T>A (p.Trp171Arg)
c.369T>A (n.369T>A)
c.322T>A (p.Trp108Arg)
c.652T>A (p.Trp218Arg)
14g.53950749A=CA2137817742BMP4c.510T= (p.Asp170=)
c.368T= (n.368T=)
c.321T= (p.Asp107=)
c.651T= (p.Asp217=)
14g.53950749A>CCA389784545BMP4c.510T>G (p.Asp170Glu)
c.368T>G (n.368T>G)
c.321T>G (p.Asp107Glu)
c.651T>G (p.Asp217Glu)
14g.53950749A>GCA7191724BMP4c.510T>C (p.Asp170=)
c.368T>C (n.368T>C)
c.321T>C (p.Asp107=)
c.651T>C (p.Asp217=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950749A>TCA7191725BMP4c.510T>A (p.Asp170Glu)
c.368T>A (n.368T>A)
c.321T>A (p.Asp107Glu)
c.651T>A (p.Asp217Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950750T>ACA389784546BMP4c.509A>T (p.Asp170Val)
c.367A>T (n.367A>T)
c.320A>T (p.Asp107Val)
c.650A>T (p.Asp217Val)
 dbSNP gnomAD v2 gnomAD v4
14g.53950750T>CCA389784547BMP4c.509A>G (p.Asp170Gly)
c.367A>G (n.367A>G)
c.320A>G (p.Asp107Gly)
c.650A>G (p.Asp217Gly)
14g.53950750T>GCA389784548BMP4c.509A>C (p.Asp170Ala)
c.367A>C (n.367A>C)
c.320A>C (p.Asp107Ala)
c.650A>C (p.Asp217Ala)
14g.53950750T=CA2137817746BMP4c.509A= (p.Asp170=)
c.367A= (n.367A=)
c.320A= (p.Asp107=)
c.650A= (p.Asp217=)
14g.53950751C>ACA389784549BMP4c.508G>T (p.Asp170Tyr)
c.366G>T (n.366G>T)
c.319G>T (p.Asp107Tyr)
c.649G>T (p.Asp217Tyr)
14g.53950751C>GCA389784550BMP4c.508G>C (p.Asp170His)
c.366G>C (n.366G>C)
c.319G>C (p.Asp107His)
c.649G>C (p.Asp217His)
 gnomAD v4
14g.53950751C>TCA389784551BMP4c.508G>A (p.Asp170Asn)
c.366G>A (n.366G>A)
c.319G>A (p.Asp107Asn)
c.649G>A (p.Asp217Asn)
14g.53950752A>CCA486658523BMP4c.507T>G (p.Pro169=)
c.365T>G (n.365T>G)
c.318T>G (p.Pro106=)
c.648T>G (p.Pro216=)
14g.53950752A>GCA486658524BMP4c.507T>C (p.Pro169=)
c.365T>C (n.365T>C)
c.318T>C (p.Pro106=)
c.648T>C (p.Pro216=)
14g.53950752A>TCA486658525BMP4c.507T>A (p.Pro169=)
c.365T>A (n.365T>A)
c.318T>A (p.Pro106=)
c.648T>A (p.Pro216=)
14g.53950753G>ACA389784552BMP4c.506C>T (p.Pro169Leu)
c.364C>T (n.364C>T)
c.317C>T (p.Pro106Leu)
c.647C>T (p.Pro216Leu)
14g.53950753G>CCA389784553BMP4c.506C>G (p.Pro169Arg)
c.364C>G (n.364C>G)
c.317C>G (p.Pro106Arg)
c.647C>G (p.Pro216Arg)
14g.53950753G>TCA389784554BMP4c.506C>A (p.Pro169His)
c.364C>A (n.364C>A)
c.317C>A (p.Pro106His)
c.647C>A (p.Pro216His)
14g.53950754G>ACA389784556BMP4c.505C>T (p.Pro169Ser)
c.363C>T (n.363C>T)
c.316C>T (p.Pro106Ser)
c.646C>T (p.Pro216Ser)
14g.53950754G>CCA389784557BMP4c.505C>G (p.Pro169Ala)
c.363C>G (n.363C>G)
c.316C>G (p.Pro106Ala)
c.646C>G (p.Pro216Ala)
 dbSNP
14g.53950754G>TCA389784555BMP4c.505C>A (p.Pro169Thr)
c.363C>A (n.363C>A)
c.316C>A (p.Pro106Thr)
c.646C>A (p.Pro216Thr)
14g.53950755G>ACA486658529BMP4c.504C>T (p.Gly168=)
c.362C>T (n.362C>T)
c.315C>T (p.Gly105=)
c.645C>T (p.Gly215=)
14g.53950755G>CCA486658530BMP4c.504C>G (p.Gly168=)
c.362C>G (n.362C>G)
c.315C>G (p.Gly105=)
c.645C>G (p.Gly215=)
14g.53950755G>TCA486658531BMP4c.504C>A (p.Gly168=)
c.362C>A (n.362C>A)
c.315C>A (p.Gly105=)
c.645C>A (p.Gly215=)
14g.53950756C>ACA389784560BMP4c.503G>T (p.Gly168Val)
c.361G>T (n.361G>T)
c.314G>T (p.Gly105Val)
c.644G>T (p.Gly215Val)
14g.53950756C>GCA389784558BMP4c.503G>C (p.Gly168Ala)
c.361G>C (n.361G>C)
c.314G>C (p.Gly105Ala)
c.644G>C (p.Gly215Ala)
14g.53950756C>TCA389784559BMP4c.503G>A (p.Gly168Asp)
c.361G>A (n.361G>A)
c.314G>A (p.Gly105Asp)
c.644G>A (p.Gly215Asp)
 gnomAD v4
14g.53950757C>ACA389784561BMP4c.502G>T (p.Gly168Cys)
c.360G>T (n.360G>T)
c.313G>T (p.Gly105Cys)
c.643G>T (p.Gly215Cys)
14g.53950757C=CA2137817749BMP4c.502G= (p.Gly168=)
c.360G= (n.360G=)
c.313G= (p.Gly105=)
c.643G= (p.Gly215=)
14g.53950757C>GCA7191726BMP4c.502G>C (p.Gly168Arg)
c.360G>C (n.360G>C)
c.313G>C (p.Gly105Arg)
c.643G>C (p.Gly215Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950757C>TCA389784562BMP4c.502G>A (p.Gly168Ser)
c.360G>A (n.360G>A)
c.313G>A (p.Gly105Ser)
c.643G>A (p.Gly215Ser)
14g.53950758C>ACA389784563BMP4c.501G>T (p.Gln167His)
c.359G>T (n.359G>T)
c.312G>T (p.Gln104His)
c.642G>T (p.Gln214His)
14g.53950758C>GCA389784564BMP4c.501G>C (p.Gln167His)
c.359G>C (n.359G>C)
c.312G>C (p.Gln104His)
c.642G>C (p.Gln214His)
14g.53950758C>TCA486658535BMP4c.501G>A (p.Gln167=)
c.359G>A (n.359G>A)
c.312G>A (p.Gln104=)
c.642G>A (p.Gln214=)
14g.53950759T>ACA389784567BMP4c.500A>T (p.Gln167Leu)
c.358A>T (n.358A>T)
c.311A>T (p.Gln104Leu)
c.641A>T (p.Gln214Leu)
14g.53950759T>CCA389784565BMP4c.500A>G (p.Gln167Arg)
c.358A>G (n.358A>G)
c.311A>G (p.Gln104Arg)
c.641A>G (p.Gln214Arg)
14g.53950759T>GCA389784566BMP4c.500A>C (p.Gln167Pro)
c.358A>C (n.358A>C)
c.311A>C (p.Gln104Pro)
c.641A>C (p.Gln214Pro)
14g.53950760G>ACA389784568BMP4c.499C>T (p.Gln167Ter)
c.357C>T (n.357C>T)
c.310C>T (p.Gln104Ter)
c.640C>T (p.Gln214Ter)
14g.53950760G>CCA389784569BMP4c.499C>G (p.Gln167Glu)
c.357C>G (n.357C>G)
c.310C>G (p.Gln104Glu)
c.640C>G (p.Gln214Glu)
14g.53950760G>TCA389784570BMP4c.499C>A (p.Gln167Lys)
c.357C>A (n.357C>A)
c.310C>A (p.Gln104Lys)
c.640C>A (p.Gln214Lys)
14g.53950761G>ACA486658536BMP4c.498C>T (p.Asp166=)
c.356C>T (n.356C>T)
c.309C>T (p.Asp103=)
c.639C>T (p.Asp213=)
 gnomAD v4
14g.53950761G>CCA389784571BMP4c.498C>G (p.Asp166Glu)
c.356C>G (n.356C>G)
c.309C>G (p.Asp103Glu)
c.639C>G (p.Asp213Glu)
14g.53950761G>TCA389784572BMP4c.498C>A (p.Asp166Glu)
c.356C>A (n.356C>A)
c.309C>A (p.Asp103Glu)
c.639C>A (p.Asp213Glu)
14g.53950762T>ACA389784573BMP4c.497A>T (p.Asp166Val)
c.355A>T (n.355A>T)
c.308A>T (p.Asp103Val)
c.638A>T (p.Asp213Val)
14g.53950762T>CCA389784575BMP4c.497A>G (p.Asp166Gly)
c.355A>G (n.355A>G)
c.308A>G (p.Asp103Gly)
c.638A>G (p.Asp213Gly)
14g.53950762T>GCA389784574BMP4c.497A>C (p.Asp166Ala)
c.355A>C (n.355A>C)
c.308A>C (p.Asp103Ala)
c.638A>C (p.Asp213Ala)
14g.53950763C>ACA389784576BMP4c.496G>T (p.Asp166Tyr)
c.354G>T (n.354G>T)
c.307G>T (p.Asp103Tyr)
c.637G>T (p.Asp213Tyr)
14g.53950763C=CA2137817756BMP4c.496G= (p.Asp166=)
c.354G= (n.354G=)
c.307G= (p.Asp103=)
c.637G= (p.Asp213=)
14g.53950763C>GCA389784577BMP4c.496G>C (p.Asp166His)
c.354G>C (n.354G>C)
c.307G>C (p.Asp103His)
c.637G>C (p.Asp213His)
14g.53950763C>TCA7191727BMP4c.496G>A (p.Asp166Asn)
c.354G>A (n.354G>A)
c.307G>A (p.Asp103Asn)
c.637G>A (p.Asp213Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950764C>ACA486658540BMP4c.495G>T (p.Val165=)
c.353G>T (n.353G>T)
c.306G>T (p.Val102=)
c.636G>T (p.Val212=)
14g.53950764C=CA2137817763BMP4c.495G= (p.Val165=)
c.353G= (n.353G=)
c.306G= (p.Val102=)
c.636G= (p.Val212=)
14g.53950764C>GCA486658541BMP4c.495G>C (p.Val165=)
c.353G>C (n.353G>C)
c.306G>C (p.Val102=)
c.636G>C (p.Val212=)
14g.53950764C>TCA486658542BMP4c.495G>A (p.Val165=)
c.353G>A (n.353G>A)
c.306G>A (p.Val102=)
c.636G>A (p.Val212=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53950765A>CCA389784578BMP4c.494T>G (p.Val165Gly)
c.352T>G (n.352T>G)
c.305T>G (p.Val102Gly)
c.635T>G (p.Val212Gly)
14g.53950765A>GCA389784579BMP4c.494T>C (p.Val165Ala)
c.352T>C (n.352T>C)
c.305T>C (p.Val102Ala)
c.635T>C (p.Val212Ala)
14g.53950765A>TCA389784580BMP4c.494T>A (p.Val165Glu)
c.352T>A (n.352T>A)
c.305T>A (p.Val102Glu)
c.635T>A (p.Val212Glu)
14g.53950766C>ACA389784581BMP4c.493G>T (p.Val165Leu)
c.351G>T (n.351G>T)
c.304G>T (p.Val102Leu)
c.634G>T (p.Val212Leu)
14g.53950766C>GCA389784582BMP4c.493G>C (p.Val165Leu)
c.351G>C (n.351G>C)
c.304G>C (p.Val102Leu)
c.634G>C (p.Val212Leu)
14g.53950766C>TCA389784583BMP4c.493G>A (p.Val165Met)
c.351G>A (n.351G>A)
c.304G>A (p.Val102Met)
c.634G>A (p.Val212Met)
14g.53950767C>ACA389784584BMP4c.492G>T (p.Gln164His)
c.350G>T (n.350G>T)
c.303G>T (p.Gln101His)
c.633G>T (p.Gln211His)
14g.53950767C>GCA389784585BMP4c.492G>C (p.Gln164His)
c.350G>C (n.350G>C)
c.303G>C (p.Gln101His)
c.633G>C (p.Gln211His)
 gnomAD v4
14g.53950767C>TCA486658543BMP4c.492G>A (p.Gln164=)
c.350G>A (n.350G>A)
c.303G>A (p.Gln101=)
c.633G>A (p.Gln211=)
14g.53950768T>ACA389784586BMP4c.491A>T (p.Gln164Leu)
c.349A>T (n.349A>T)
c.302A>T (p.Gln101Leu)
c.632A>T (p.Gln211Leu)
 gnomAD v4
14g.53950768T>CCA389784588BMP4c.491A>G (p.Gln164Arg)
c.349A>G (n.349A>G)
c.302A>G (p.Gln101Arg)
c.632A>G (p.Gln211Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.53950768T>GCA389784587BMP4c.491A>C (p.Gln164Pro)
c.349A>C (n.349A>C)
c.302A>C (p.Gln101Pro)
c.632A>C (p.Gln211Pro)
14g.53950768T=CA2137817767BMP4c.491A= (p.Gln164=)
c.349A= (n.349A=)
c.302A= (p.Gln101=)
c.632A= (p.Gln211=)
14g.53950769G>ACA389784589BMP4c.490C>T (p.Gln164Ter)
c.348C>T (n.348C>T)
c.301C>T (p.Gln101Ter)
c.631C>T (p.Gln211Ter)
 gnomAD v4
14g.53950769G>CCA389784590BMP4c.490C>G (p.Gln164Glu)
c.348C>G (n.348C>G)
c.301C>G (p.Gln101Glu)
c.631C>G (p.Gln211Glu)
14g.53950769G>TCA389784591BMP4c.490C>A (p.Gln164Lys)
c.348C>A (n.348C>A)
c.301C>A (p.Gln101Lys)
c.631C>A (p.Gln211Lys)
14g.53950770C>ACA389784592BMP4c.489G>T (p.Glu163Asp)
c.347G>T (n.347G>T)
c.300G>T (p.Glu100Asp)
c.630G>T (p.Glu210Asp)
14g.53950770C=CA2137817770BMP4c.489G= (p.Glu163=)
c.347G= (n.347G=)
c.300G= (p.Glu100=)
c.630G= (p.Glu210=)
14g.53950770C>GCA389784593BMP4c.489G>C (p.Glu163Asp)
c.347G>C (n.347G>C)
c.300G>C (p.Glu100Asp)
c.630G>C (p.Glu210Asp)
 gnomAD v4
14g.53950770C>TCA486658545BMP4c.489G>A (p.Glu163=)
c.347G>A (n.347G>A)
c.300G>A (p.Glu100=)
c.630G>A (p.Glu210=)
 dbSNP gnomAD v2 gnomAD v4
14g.53950771T>ACA389784594BMP4c.488A>T (p.Glu163Val)
c.346A>T (n.346A>T)
c.299A>T (p.Glu100Val)
c.629A>T (p.Glu210Val)
14g.53950771T>CCA389784595BMP4c.488A>G (p.Glu163Gly)
c.346A>G (n.346A>G)
c.299A>G (p.Glu100Gly)
c.629A>G (p.Glu210Gly)
14g.53950771T>GCA389784596BMP4c.488A>C (p.Glu163Ala)
c.346A>C (n.346A>C)
c.299A>C (p.Glu100Ala)
c.629A>C (p.Glu210Ala)
14g.53950771_53950772delinsTCCA2137817773BMP4c.487_488delinsGA (p.Glu163=)
c.345_346delinsGA (n.345_346delinsGA)
c.298_299delinsGA (p.Glu100=)
c.628_629delinsGA (p.Glu210=)
14g.53950772C>ACA389784597BMP4c.487G>T (p.Glu163Ter)
c.345G>T (n.345G>T)
c.298G>T (p.Glu100Ter)
c.628G>T (p.Glu210Ter)
14g.53950772C=CA2137817780BMP4c.487G= (p.Glu163=)
c.345G= (n.345G=)
c.298G= (p.Glu100=)
c.628G= (p.Glu210=)
14g.53950772C>GCA389784598BMP4c.487G>C (p.Glu163Gln)
c.345G>C (n.345G>C)
c.298G>C (p.Glu100Gln)
c.628G>C (p.Glu210Gln)
14g.53950772C>TCA389784599BMP4c.487G>A (p.Glu163Lys)
c.345G>A (n.345G>A)
c.298G>A (p.Glu100Lys)
c.628G>A (p.Glu210Lys)
 dbSNP
14g.53950774delCA614278096BMP4c.487del (p.Glu163SerfsTer16)
c.345del (n.345del)
c.298del (p.Glu100SerfsTer16)
c.628del (p.Glu210SerfsTer16)
 dbSNP gnomAD v2 gnomAD v4
14g.53950773C>ACA486658550BMP4c.486G>T (p.Arg162=)
c.344G>T (n.344G>T)
c.297G>T (p.Arg99=)
c.627G>T (p.Arg209=)
 gnomAD v4
14g.53950773C>GCA486658551BMP4c.486G>C (p.Arg162=)
c.344G>C (n.344G>C)
c.297G>C (p.Arg99=)
c.627G>C (p.Arg209=)
14g.53950773C>TCA486658552BMP4c.486G>A (p.Arg162=)
c.344G>A (n.344G>A)
c.297G>A (p.Arg99=)
c.627G>A (p.Arg209=)
14g.53950774C>ACA389784601BMP4c.485G>T (p.Arg162Leu)
c.343G>T (n.343G>T)
c.296G>T (p.Arg99Leu)
c.626G>T (p.Arg209Leu)
14g.53950774C=CA2137817783BMP4c.485G= (p.Arg162=)
c.343G= (n.343G=)
c.296G= (p.Arg99=)
c.626G= (p.Arg209=)
14g.53950774C>GCA389784600BMP4c.485G>C (p.Arg162Pro)
c.343G>C (n.343G>C)
c.296G>C (p.Arg99Pro)
c.626G>C (p.Arg209Pro)
 gnomAD v4
14g.53950774C>TCA7191728BMP4c.485G>A (p.Arg162Gln)
c.343G>A (n.343G>A)
c.296G>A (p.Arg99Gln)
c.626G>A (p.Arg209Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950775G>ACA7191729BMP4c.484C>T (p.Arg162Trp)
c.342C>T (n.342C>T)
c.295C>T (p.Arg99Trp)
c.625C>T (p.Arg209Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950775G>CCA389784602BMP4c.484C>G (p.Arg162Gly)
c.342C>G (n.342C>G)
c.295C>G (p.Arg99Gly)
c.625C>G (p.Arg209Gly)
 gnomAD v4
14g.53950775G=CA2137817787BMP4c.484C= (p.Arg162=)
c.342C= (n.342C=)
c.295C= (p.Arg99=)
c.625C= (p.Arg209=)
14g.53950775G>TCA486658553BMP4c.484C>A (p.Arg162=)
c.342C>A (n.342C>A)
c.295C>A (p.Arg99=)
c.625C>A (p.Arg209=)
 gnomAD v4
14g.53950776G>ACA486658554BMP4c.483C>T (p.Phe161=)
c.341C>T (n.341C>T)
c.294C>T (p.Phe98=)
c.624C>T (p.Phe208=)
 gnomAD v4
14g.53950776G>CCA389784603BMP4c.483C>G (p.Phe161Leu)
c.341C>G (n.341C>G)
c.294C>G (p.Phe98Leu)
c.624C>G (p.Phe208Leu)
14g.53950776G>TCA389784604BMP4c.483C>A (p.Phe161Leu)
c.341C>A (n.341C>A)
c.294C>A (p.Phe98Leu)
c.624C>A (p.Phe208Leu)
14g.53950777A>CCA389784605BMP4c.482T>G (p.Phe161Cys)
c.340T>G (n.340T>G)
c.293T>G (p.Phe98Cys)
c.623T>G (p.Phe208Cys)
14g.53950777A>GCA389784606BMP4c.482T>C (p.Phe161Ser)
c.340T>C (n.340T>C)
c.293T>C (p.Phe98Ser)
c.623T>C (p.Phe208Ser)
14g.53950777A>TCA389784607BMP4c.482T>A (p.Phe161Tyr)
c.340T>A (n.340T>A)
c.293T>A (p.Phe98Tyr)
c.623T>A (p.Phe208Tyr)
14g.53950778A=CA2137817791BMP4c.481T= (p.Phe161=)
c.339T= (n.339T=)
c.292T= (p.Phe98=)
c.622T= (p.Phe208=)
14g.53950778A>CCA389784608BMP4c.481T>G (p.Phe161Val)
c.339T>G (n.339T>G)
c.292T>G (p.Phe98Val)
c.622T>G (p.Phe208Val)
14g.53950778A>GCA7191730BMP4c.481T>C (p.Phe161Leu)
c.339T>C (n.339T>C)
c.292T>C (p.Phe98Leu)
c.622T>C (p.Phe208Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950778A>TCA389784609BMP4c.481T>A (p.Phe161Ile)
c.339T>A (n.339T>A)
c.292T>A (p.Phe98Ile)
c.622T>A (p.Phe208Ile)
14g.53950779G>ACA486658556BMP4c.480C>T (p.Leu160=)
c.338C>T (n.338C>T)
c.291C>T (p.Leu97=)
c.621C>T (p.Leu207=)
 dbSNP gnomAD v4
14g.53950779G>CCA486658557BMP4c.480C>G (p.Leu160=)
c.338C>G (n.338C>G)
c.291C>G (p.Leu97=)
c.621C>G (p.Leu207=)
14g.53950779G=CA2137817793BMP4c.480C= (p.Leu160=)
c.338C= (n.338C=)
c.291C= (p.Leu97=)
c.621C= (p.Leu207=)
14g.53950779G>TCA486658558BMP4c.480C>A (p.Leu160=)
c.338C>A (n.338C>A)
c.291C>A (p.Leu97=)
c.621C>A (p.Leu207=)
 gnomAD v4
14g.53950780A>CCA389784610BMP4c.479T>G (p.Leu160Arg)
c.337T>G (n.337T>G)
c.290T>G (p.Leu97Arg)
c.620T>G (p.Leu207Arg)
14g.53950780A>GCA389784611BMP4c.479T>C (p.Leu160Pro)
c.337T>C (n.337T>C)
c.290T>C (p.Leu97Pro)
c.620T>C (p.Leu207Pro)
14g.53950780A>TCA389784612BMP4c.479T>A (p.Leu160His)
c.337T>A (n.337T>A)
c.290T>A (p.Leu97His)
c.620T>A (p.Leu207His)
14g.53950781G>ACA389784614BMP4c.478C>T (p.Leu160Phe)
c.336C>T (n.336C>T)
c.289C>T (p.Leu97Phe)
c.619C>T (p.Leu207Phe)
 COSMIC
14g.53950781G>CCA389784615BMP4c.478C>G (p.Leu160Val)
c.336C>G (n.336C>G)
c.289C>G (p.Leu97Val)
c.619C>G (p.Leu207Val)
 gnomAD v4
14g.53950781G>TCA389784613BMP4c.478C>A (p.Leu160Ile)
c.336C>A (n.336C>A)
c.289C>A (p.Leu97Ile)
c.619C>A (p.Leu207Ile)
 gnomAD v4
14g.53950782C>ACA486658562BMP4c.477G>T (p.Arg159=)
c.335G>T (n.335G>T)
c.288G>T (p.Arg96=)
c.618G>T (p.Arg206=)
14g.53950782C>GCA486658563BMP4c.477G>C (p.Arg159=)
c.335G>C (n.335G>C)
c.288G>C (p.Arg96=)
c.618G>C (p.Arg206=)
 gnomAD v4
14g.53950782C>TCA486658564BMP4c.477G>A (p.Arg159=)
c.335G>A (n.335G>A)
c.288G>A (p.Arg96=)
c.618G>A (p.Arg206=)
14g.53950783C>ACA389784617BMP4c.476G>T (p.Arg159Leu)
c.334G>T (n.334G>T)
c.287G>T (p.Arg96Leu)
c.617G>T (p.Arg206Leu)
14g.53950783C=CA2137817798BMP4c.476G= (p.Arg159=)
c.334G= (n.334G=)
c.287G= (p.Arg96=)
c.617G= (p.Arg206=)
14g.53950783C>GCA389784616BMP4c.476G>C (p.Arg159Pro)
c.334G>C (n.334G>C)
c.287G>C (p.Arg96Pro)
c.617G>C (p.Arg206Pro)
14g.53950783C>TCA7191731BMP4c.476G>A (p.Arg159Gln)
c.334G>A (n.334G>A)
c.287G>A (p.Arg96Gln)
c.617G>A (p.Arg206Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950784G>ACA7191732BMP4c.475C>T (p.Arg159Trp)
c.333C>T (n.333C>T)
c.286C>T (p.Arg96Trp)
c.616C>T (p.Arg206Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950784G>CCA389784618BMP4c.475C>G (p.Arg159Gly)
c.333C>G (n.333C>G)
c.286C>G (p.Arg96Gly)
c.616C>G (p.Arg206Gly)
14g.53950784G=CA2137817800BMP4c.475C= (p.Arg159=)
c.333C= (n.333C=)
c.286C= (p.Arg96=)
c.616C= (p.Arg206=)
14g.53950784G>TCA486658565BMP4c.475C>A (p.Arg159=)
c.333C>A (n.333C>A)
c.286C>A (p.Arg96=)
c.616C>A (p.Arg206=)
14g.53950785A>CCA486658566BMP4c.474T>G (p.Leu158=)
c.332T>G (n.332T>G)
c.285T>G (p.Leu95=)
c.615T>G (p.Leu205=)
 gnomAD v4
14g.53950785A>GCA486658567BMP4c.474T>C (p.Leu158=)
c.332T>C (n.332T>C)
c.285T>C (p.Leu95=)
c.615T>C (p.Leu205=)
14g.53950785A>TCA486658568BMP4c.474T>A (p.Leu158=)
c.332T>A (n.332T>A)
c.285T>A (p.Leu95=)
c.615T>A (p.Leu205=)
14g.53950786A>CCA389784619BMP4c.473T>G (p.Leu158Arg)
c.331T>G (n.331T>G)
c.284T>G (p.Leu95Arg)
c.614T>G (p.Leu205Arg)
14g.53950786A>GCA389784620BMP4c.473T>C (p.Leu158Pro)
c.331T>C (n.331T>C)
c.284T>C (p.Leu95Pro)
c.614T>C (p.Leu205Pro)
14g.53950786A>TCA389784621BMP4c.473T>A (p.Leu158His)
c.331T>A (n.331T>A)
c.284T>A (p.Leu95His)
c.614T>A (p.Leu205His)
14g.53950787G>ACA389784622BMP4c.472C>T (p.Leu158Phe)
c.330C>T (n.330C>T)
c.283C>T (p.Leu95Phe)
c.613C>T (p.Leu205Phe)
14g.53950787G>CCA389784623BMP4c.472C>G (p.Leu158Val)
c.330C>G (n.330C>G)
c.283C>G (p.Leu95Val)
c.613C>G (p.Leu205Val)
14g.53950787G>TCA389784624BMP4c.472C>A (p.Leu158Ile)
c.330C>A (n.330C>A)
c.283C>A (p.Leu95Ile)
c.613C>A (p.Leu205Ile)
 gnomAD v4
14g.53950788C>ACA389784625BMP4c.471G>T (p.Glu157Asp)
c.329G>T (n.329G>T)
c.282G>T (p.Glu94Asp)
c.612G>T (p.Glu204Asp)
14g.53950788C>GCA389784626BMP4c.471G>C (p.Glu157Asp)
c.329G>C (n.329G>C)
c.282G>C (p.Glu94Asp)
c.612G>C (p.Glu204Asp)
14g.53950788C>TCA486658570BMP4c.471G>A (p.Glu157=)
c.329G>A (n.329G>A)
c.282G>A (p.Glu94=)
c.612G>A (p.Glu204=)
14g.53950789T>ACA389784629BMP4c.470A>T (p.Glu157Val)
c.328A>T (n.328A>T)
c.281A>T (p.Glu94Val)
c.611A>T (p.Glu204Val)
 gnomAD v4
14g.53950789T>CCA389784627BMP4c.470A>G (p.Glu157Gly)
c.328A>G (n.328A>G)
c.281A>G (p.Glu94Gly)
c.611A>G (p.Glu204Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.53950789T>GCA389784628BMP4c.470A>C (p.Glu157Ala)
c.328A>C (n.328A>C)
c.281A>C (p.Glu94Ala)
c.611A>C (p.Glu204Ala)
14g.53950789T=CA2137817803BMP4c.470A= (p.Glu157=)
c.328A= (n.328A=)
c.281A= (p.Glu94=)
c.611A= (p.Glu204=)
14g.53950790C>ACA389784630BMP4c.469G>T (p.Glu157Ter)
c.327G>T (n.327G>T)
c.280G>T (p.Glu94Ter)
c.610G>T (p.Glu204Ter)
14g.53950790C=CA2137817805BMP4c.469G= (p.Glu157=)
c.327G= (n.327G=)
c.280G= (p.Glu94=)
c.610G= (p.Glu204=)
14g.53950790C>GCA389784631BMP4c.469G>C (p.Glu157Gln)
c.327G>C (n.327G>C)
c.280G>C (p.Glu94Gln)
c.610G>C (p.Glu204Gln)
 dbSNP gnomAD v3 gnomAD v4
14g.53950790C>TCA389784632BMP4c.469G>A (p.Glu157Lys)
c.327G>A (n.327G>A)
c.280G>A (p.Glu94Lys)
c.610G>A (p.Glu204Lys)
14g.53950791T>ACA486658573BMP4c.468A>T (p.Ala156=)
c.326A>T (n.326A>T)
c.279A>T (p.Ala93=)
c.609A>T (p.Ala203=)
14g.53950791T>CCA486658574BMP4c.468A>G (p.Ala156=)
c.326A>G (n.326A>G)
c.279A>G (p.Ala93=)
c.609A>G (p.Ala203=)
14g.53950791T>GCA486658575BMP4c.468A>C (p.Ala156=)
c.326A>C (n.326A>C)
c.279A>C (p.Ala93=)
c.609A>C (p.Ala203=)
14g.53950792G>ACA389784633BMP4c.467C>T (p.Ala156Val)
c.325C>T (n.325C>T)
c.278C>T (p.Ala93Val)
c.608C>T (p.Ala203Val)
14g.53950792G>CCA389784634BMP4c.467C>G (p.Ala156Gly)
c.325C>G (n.325C>G)
c.278C>G (p.Ala93Gly)
c.608C>G (p.Ala203Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.53950792G=CA2137817808BMP4c.467C= (p.Ala156=)
c.325C= (n.325C=)
c.278C= (p.Ala93=)
c.608C= (p.Ala203=)
14g.53950792G>TCA389784635BMP4c.467C>A (p.Ala156Glu)
c.325C>A (n.325C>A)
c.278C>A (p.Ala93Glu)
c.608C>A (p.Ala203Glu)
 gnomAD v4
14g.53950793C>ACA389784636BMP4c.466G>T (p.Ala156Ser)
c.324G>T (n.324G>T)
c.277G>T (p.Ala93Ser)
c.607G>T (p.Ala203Ser)
14g.53950793C=CA2137817810BMP4c.466G= (p.Ala156=)
c.324G= (n.324G=)
c.277G= (p.Ala93=)
c.607G= (p.Ala203=)
14g.53950793C>GCA389784637BMP4c.466G>C (p.Ala156Pro)
c.324G>C (n.324G>C)
c.277G>C (p.Ala93Pro)
c.607G>C (p.Ala203Pro)
14g.53950793C>TCA389784638BMP4c.466G>A (p.Ala156Thr)
c.324G>A (n.324G>A)
c.277G>A (p.Ala93Thr)
c.607G>A (p.Ala203Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.53950794A=CA2137817812BMP4c.465T= (p.Ser155=)
c.323T= (n.323T=)
c.276T= (p.Ser92=)
c.606T= (p.Ser202=)
14g.53950794A>CCA486658579BMP4c.465T>G (p.Ser155=)
c.323T>G (n.323T>G)
c.276T>G (p.Ser92=)
c.606T>G (p.Ser202=)
14g.53950794A>GCA486658580BMP4c.465T>C (p.Ser155=)
c.323T>C (n.323T>C)
c.276T>C (p.Ser92=)
c.606T>C (p.Ser202=)
 dbSNP gnomAD v2 gnomAD v4
14g.53950794A>TCA486658581BMP4c.465T>A (p.Ser155=)
c.323T>A (n.323T>A)
c.276T>A (p.Ser92=)
c.606T>A (p.Ser202=)
14g.53950795G>ACA389784639BMP4c.464C>T (p.Ser155Phe)
c.322C>T (n.322C>T)
c.275C>T (p.Ser92Phe)
c.605C>T (p.Ser202Phe)
 gnomAD v4 COSMIC
14g.53950795G>CCA389784640BMP4c.464C>G (p.Ser155Cys)
c.322C>G (n.322C>G)
c.275C>G (p.Ser92Cys)
c.605C>G (p.Ser202Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
14g.53950795G=CA2137817814BMP4c.464C= (p.Ser155=)
c.322C= (n.322C=)
c.275C= (p.Ser92=)
c.605C= (p.Ser202=)
14g.53950795G>TCA389784641BMP4c.464C>A (p.Ser155Tyr)
c.322C>A (n.322C>A)
c.275C>A (p.Ser92Tyr)
c.605C>A (p.Ser202Tyr)
14g.53950796A>CCA389784643BMP4c.463T>G (p.Ser155Ala)
c.321T>G (n.321T>G)
c.274T>G (p.Ser92Ala)
c.604T>G (p.Ser202Ala)
 COSMIC
14g.53950796A>GCA389784644BMP4c.463T>C (p.Ser155Pro)
c.321T>C (n.321T>C)
c.274T>C (p.Ser92Pro)
c.604T>C (p.Ser202Pro)
14g.53950796A>TCA389784642BMP4c.463T>A (p.Ser155Thr)
c.321T>A (n.321T>A)
c.274T>A (p.Ser92Thr)
c.604T>A (p.Ser202Thr)
14g.53950797G>ACA486658585BMP4c.462C>T (p.Ser154=)
c.320C>T (n.320C>T)
c.273C>T (p.Ser91=)
c.603C>T (p.Ser201=)
 dbSNP gnomAD v2 gnomAD v4
14g.53950797G>CCA486658586BMP4c.462C>G (p.Ser154=)
c.320C>G (n.320C>G)
c.273C>G (p.Ser91=)
c.603C>G (p.Ser201=)
14g.53950797G=CA2137817816BMP4c.462C= (p.Ser154=)
c.320C= (n.320C=)
c.273C= (p.Ser91=)
c.603C= (p.Ser201=)
14g.53950797G>TCA486658587BMP4c.462C>A (p.Ser154=)
c.320C>A (n.320C>A)
c.273C>A (p.Ser91=)
c.603C>A (p.Ser201=)
14g.53950798G>ACA261472679BMP4c.461C>T (p.Ser154Phe)
c.319C>T (n.319C>T)
c.272C>T (p.Ser91Phe)
c.602C>T (p.Ser201Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53950798G>CCA389784645BMP4c.461C>G (p.Ser154Cys)
c.319C>G (n.319C>G)
c.272C>G (p.Ser91Cys)
c.602C>G (p.Ser201Cys)
14g.53950798G=CA2137817820BMP4c.461C= (p.Ser154=)
c.319C= (n.319C=)
c.272C= (p.Ser91=)
c.602C= (p.Ser201=)
14g.53950798G>TCA389784646BMP4c.461C>A (p.Ser154Tyr)
c.319C>A (n.319C>A)
c.272C>A (p.Ser91Tyr)
c.602C>A (p.Ser201Tyr)
14g.53950799A>CCA389784647BMP4c.460T>G (p.Ser154Ala)
c.318T>G (n.318T>G)
c.271T>G (p.Ser91Ala)
c.601T>G (p.Ser201Ala)
14g.53950799A>GCA389784648BMP4c.460T>C (p.Ser154Pro)
c.318T>C (n.318T>C)
c.271T>C (p.Ser91Pro)
c.601T>C (p.Ser201Pro)
14g.53950799A>TCA389784649BMP4c.460T>A (p.Ser154Thr)
c.318T>A (n.318T>A)
c.271T>A (p.Ser91Thr)
c.601T>A (p.Ser201Thr)
14g.53950800G>ACA486658590BMP4c.459C>T (p.Ile153=)
c.317C>T (n.317C>T)
c.270C>T (p.Ile90=)
c.600C>T (p.Ile200=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53950800G>CCA389784650BMP4c.459C>G (p.Ile153Met)
c.317C>G (n.317C>G)
c.270C>G (p.Ile90Met)
c.600C>G (p.Ile200Met)
14g.53950800G=CA2137817825BMP4c.459C= (p.Ile153=)
c.317C= (n.317C=)
c.270C= (p.Ile90=)
c.600C= (p.Ile200=)
14g.53950800G>TCA486658592BMP4c.459C>A (p.Ile153=)
c.317C>A (n.317C>A)
c.270C>A (p.Ile90=)
c.600C>A (p.Ile200=)
14g.53950801A>CCA389784651BMP4c.458T>G (p.Ile153Ser)
c.316T>G (n.316T>G)
c.269T>G (p.Ile90Ser)
c.599T>G (p.Ile200Ser)
14g.53950801A>GCA389784653BMP4c.458T>C (p.Ile153Thr)
c.316T>C (n.316T>C)
c.269T>C (p.Ile90Thr)
c.599T>C (p.Ile200Thr)
 COSMIC
14g.53950801A>TCA389784652BMP4c.458T>A (p.Ile153Asn)
c.316T>A (n.316T>A)
c.269T>A (p.Ile90Asn)
c.599T>A (p.Ile200Asn)
14g.53950802T>ACA389784654BMP4c.457A>T (p.Ile153Phe)
c.315A>T (p.Ter105Cys)
c.268A>T (p.Ile90Phe)
c.598A>T (p.Ile200Phe)
14g.53950802T>CCA389784655BMP4c.457A>G (p.Ile153Val)
c.315A>G (p.Ter105Trp)
c.268A>G (p.Ile90Val)
c.598A>G (p.Ile200Val)
14g.53950802T>GCA389784656BMP4c.457A>C (p.Ile153Leu)
c.315A>C (p.Ter105Cys)
c.268A>C (p.Ile90Leu)
c.598A>C (p.Ile200Leu)
14g.53950803C>ACA389784657BMP4c.456G>T (p.Val152=)
c.314G>T (p.Ter105Leu)
c.267G>T (p.Val89=)
c.597G>T (p.Val199=)
 gnomAD v4
14g.53950803C=CA2137817827BMP4c.456G= (p.Val152=)
c.314G= (p.Ter105=)
c.267G= (p.Val89=)
c.597G= (p.Val199=)
14g.53950803C>GCA389784658BMP4c.456G>C (p.Val152=)
c.314G>C (p.Ter105Ser)
c.267G>C (p.Val89=)
c.597G>C (p.Val199=)
14g.53950803C>TCA486658599BMP4c.456G>A (p.Val152=)
c.314G>A (p.Ter105=)
c.267G>A (p.Val89=)
c.597G>A (p.Val199=)
 dbSNP gnomAD v4
14g.53950804A=CA2137817830BMP4c.455T= (p.Val152=)
c.313T= (p.Ter105=)
c.266T= (p.Val89=)
c.596T= (p.Val199=)
14g.53950804A>CCA389784659BMP4c.455T>G (p.Val152Gly)
c.313T>G (p.Ter105Gly)
c.266T>G (p.Val89Gly)
c.596T>G (p.Val199Gly)
14g.53950804A>GCA202736BMP4c.455T>C (p.Val152Ala)
c.313T>C (p.Ter105Arg)
c.266T>C (p.Val89Ala)
c.596T>C (p.Val199Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53950804A>TCA389784660BMP4c.455T>A (p.Val152Glu)
c.313T>A (p.Ter105Arg)
c.266T>A (p.Val89Glu)
c.596T>A (p.Val199Glu)
 gnomAD v4
14g.53950804_53950805insAGAGCCGAAGCTCTGCAGAGGAGATCGCA963264511BMP4c.454_455insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Val152delinsAlaIleSerSerAlaGluLeuArgLeuLeu)
c.312_313insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Arg104_Ter105insArgSerProLeuGlnSerPheGlySer)
c.265_266insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Val89delinsAlaIleSerSerAlaGluLeuArgLeuLeu)
c.595_596insCGATCTCCTCTGCAGAGCTTCGGCTCT (p.Val199delinsAlaIleSerSerAlaGluLeuArgLeuLeu)
 gnomAD v3 gnomAD v4
14g.53950805C>ACA389784661BMP4c.454G>T (p.Val152Leu)
c.312G>T (p.Arg104Ser)
c.265G>T (p.Val89Leu)
c.595G>T (p.Val199Leu)
 dbSNP
14g.53950805C=CA2137817836BMP4c.454G= (p.Val152=)
c.312G= (p.Arg104=)
c.265G= (p.Val89=)
c.595G= (p.Val199=)
14g.53950805C>GCA389784662BMP4c.454G>C (p.Val152Leu)
c.312G>C (p.Arg104Ser)
c.265G>C (p.Val89Leu)
c.595G>C (p.Val199Leu)
14g.53950805C>TCA389784663BMP4c.454G>A (p.Val152Met)
c.312G>A (p.Arg104=)
c.265G>A (p.Val89Met)
c.595G>A (p.Val199Met)
 dbSNP gnomAD v2 gnomAD v4
14g.53950806C>ACA389784664BMP4c.453G>T (p.Glu151Asp)
c.311G>T (p.Arg104Met)
c.264G>T (p.Glu88Asp)
c.594G>T (p.Glu198Asp)
14g.53950806C>GCA389784665BMP4c.453G>C (p.Glu151Asp)
c.311G>C (p.Arg104Thr)
c.264G>C (p.Glu88Asp)
c.594G>C (p.Glu198Asp)
14g.53950806C>TCA389784666BMP4c.453G>A (p.Glu151=)
c.311G>A (p.Arg104Lys)
c.264G>A (p.Glu88=)
c.594G>A (p.Glu198=)
14g.53950807T>ACA389784667BMP4c.452A>T (p.Glu151Val)
c.310A>T (p.Arg104Trp)
c.263A>T (p.Glu88Val)
c.593A>T (p.Glu198Val)
 ClinVar
14g.53950807T>CCA389784668BMP4c.452A>G (p.Glu151Gly)
c.310A>G (p.Arg104Gly)
c.263A>G (p.Glu88Gly)
c.593A>G (p.Glu198Gly)
14g.53950807T>GCA389784669BMP4c.452A>C (p.Glu151Ala)
c.310A>C (p.Arg104=)
c.263A>C (p.Glu88Ala)
c.593A>C (p.Glu198Ala)
14g.53950808C>ACA389784670BMP4c.451G>T (p.Glu151Ter)
c.309G>T (p.Thr103=)
c.262G>T (p.Glu88Ter)
c.592G>T (p.Glu198Ter)
14g.53950808C>GCA389784671BMP4c.451G>C (p.Glu151Gln)
c.309G>C (p.Thr103=)
c.262G>C (p.Glu88Gln)
c.592G>C (p.Glu198Gln)
 gnomAD v4
14g.53950808C>TCA389784672BMP4c.451G>A (p.Glu151Lys)
c.309G>A (p.Thr103=)
c.262G>A (p.Glu88Lys)
c.592G>A (p.Glu198Lys)
 ClinVar COSMIC
14g.53950809G>ACA7191733BMP4c.450C>T (p.Asn150=)
c.308C>T (p.Thr103Met)
c.261C>T (p.Asn87=)
c.591C>T (p.Asn197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.53950809G>CCA7191734BMP4c.450C>G (p.Asn150Lys)
c.308C>G (p.Thr103Arg)
c.261C>G (p.Asn87Lys)
c.591C>G (p.Asn197Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.53950809G=CA2137817848BMP4c.450C= (p.Asn150=)
c.308C= (p.Thr103=)
c.261C= (p.Asn87=)
c.591C= (p.Asn197=)
14g.53950809G>TCA389784673BMP4c.450C>A (p.Asn150Lys)
c.308C>A (p.Thr103Lys)
c.261C>A (p.Asn87Lys)
c.591C>A (p.Asn197Lys)
14g.53950810T>ACA389784674BMP4c.449A>T (p.Asn150Ile)
c.307A>T (p.Thr103Ser)
c.260A>T (p.Asn87Ile)
c.590A>T (p.Asn197Ile)
14g.53950810T>CCA389784676BMP4c.449A>G (p.Asn150Ser)
c.307A>G (p.Thr103Ala)
c.260A>G (p.Asn87Ser)
c.590A>G (p.Asn197Ser)
14g.53950810T>GCA389784675BMP4c.449A>C (p.Asn150Thr)
c.307A>C (p.Thr103Pro)
c.260A>C (p.Asn87Thr)
c.590A>C (p.Asn197Thr)
14g.53950811T>ACA389784677BMP4c.448A>T (p.Asn150Tyr)
c.306A>T (p.Arg102Ser)
c.259A>T (p.Asn87Tyr)
c.589A>T (p.Asn197Tyr)
14g.53950811T>CCA389784679BMP4c.448A>G (p.Asn150Asp)
c.306A>G (p.Arg102=)
c.259A>G (p.Asn87Asp)
c.589A>G (p.Asn197Asp)
14g.53950811T>GCA389784678BMP4c.448A>C (p.Asn150His)
c.306A>C (p.Arg102Ser)
c.259A>C (p.Asn87His)
c.589A>C (p.Asn197His)
14g.53950812C>ACA389784680BMP4c.447G>T (p.Glu149Asp)
c.305G>T (p.Arg102Ile)
c.258G>T (p.Glu86Asp)
c.588G>T (p.Glu196Asp)
 gnomAD v4
14g.53950812C=CA2137817855BMP4c.447G= (p.Glu149=)
c.305G= (p.Arg102=)
c.258G= (p.Glu86=)
c.588G= (p.Glu196=)
14g.53950812C>GCA389784681BMP4c.447G>C (p.Glu149Asp)
c.305G>C (p.Arg102Thr)
c.258G>C (p.Glu86Asp)
c.588G>C (p.Glu196Asp)
14g.53950812C>TCA261472680BMP4c.447G>A (p.Glu149=)
c.305G>A (p.Arg102Lys)
c.258G>A (p.Glu86=)
c.588G>A (p.Glu196=)
 dbSNP

Number of alleles fetched