Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13025343_13025360delCA2813656097NFIXc.347_364del (p.Ile116_Ala122delinsThr)
c.168_185del
c.350_367del (p.Ile117_Ala123delinsThr)
c.374_391del (p.Ile125_Ala131delinsThr)
c.359_376del (p.Ile120_Ala126delinsThr)
c.209_226del (p.Ile70_Ala76delinsThr)
c.326_343del (p.Ile109_Ala115delinsThr)
c.*181_*198del (n.*181_*198del)
c.398_415del (p.Ile133_Ala139delinsThr)
c.527_544del (p.Ile176_Ala182delinsThr)
19g.13025357C>ACA404314606NFIXc.361C>A (p.Gln121Lys)
c.182C>A
c.364C>A (p.Gln122Lys)
c.388C>A (p.Gln130Lys)
c.373C>A (p.Gln125Lys)
c.223C>A (p.Gln75Lys)
c.340C>A (p.Gln114Lys)
c.*195C>A (n.*195C>A)
c.412C>A (p.Gln138Lys)
c.541C>A (p.Gln181Lys)
19g.13025357C>GCA404314607NFIXc.361C>G (p.Gln121Glu)
c.182C>G
c.364C>G (p.Gln122Glu)
c.388C>G (p.Gln130Glu)
c.373C>G (p.Gln125Glu)
c.223C>G (p.Gln75Glu)
c.340C>G (p.Gln114Glu)
c.*195C>G (n.*195C>G)
c.412C>G (p.Gln138Glu)
c.541C>G (p.Gln181Glu)
19g.13025357C>TCA404314598NFIXc.361C>T (p.Gln121Ter)
c.182C>T
c.364C>T (p.Gln122Ter)
c.388C>T (p.Gln130Ter)
c.373C>T (p.Gln125Ter)
c.223C>T (p.Gln75Ter)
c.340C>T (p.Gln114Ter)
c.*195C>T (n.*195C>T)
c.412C>T (p.Gln138Ter)
c.541C>T (p.Gln181Ter)
19g.13025358A>CCA404314608NFIXc.362A>C (p.Gln121Pro)
c.183A>C
c.365A>C (p.Gln122Pro)
c.389A>C (p.Gln130Pro)
c.374A>C (p.Gln125Pro)
c.224A>C (p.Gln75Pro)
c.341A>C (p.Gln114Pro)
c.*196A>C (n.*196A>C)
c.413A>C (p.Gln138Pro)
c.542A>C (p.Gln181Pro)
19g.13025358A>GCA404314609NFIXc.362A>G (p.Gln121Arg)
c.183A>G
c.365A>G (p.Gln122Arg)
c.389A>G (p.Gln130Arg)
c.374A>G (p.Gln125Arg)
c.224A>G (p.Gln75Arg)
c.341A>G (p.Gln114Arg)
c.*196A>G (n.*196A>G)
c.413A>G (p.Gln138Arg)
c.542A>G (p.Gln181Arg)
19g.13025358A>TCA404314611NFIXc.362A>T (p.Gln121Leu)
c.183A>T
c.365A>T (p.Gln122Leu)
c.389A>T (p.Gln130Leu)
c.374A>T (p.Gln125Leu)
c.224A>T (p.Gln75Leu)
c.341A>T (p.Gln114Leu)
c.*196A>T (n.*196A>T)
c.413A>T (p.Gln138Leu)
c.542A>T (p.Gln181Leu)
19g.13025359G>ACA505780764NFIXc.363G>A (p.Gln121=)
c.184G>A
c.366G>A (p.Gln122=)
c.390G>A (p.Gln130=)
c.375G>A (p.Gln125=)
c.225G>A (p.Gln75=)
c.342G>A (p.Gln114=)
c.*197G>A (n.*197G>A)
c.414G>A (p.Gln138=)
c.543G>A (p.Gln181=)
19g.13025359G>CCA404314612NFIXc.363G>C (p.Gln121His)
c.184G>C
c.366G>C (p.Gln122His)
c.390G>C (p.Gln130His)
c.375G>C (p.Gln125His)
c.225G>C (p.Gln75His)
c.342G>C (p.Gln114His)
c.*197G>C (n.*197G>C)
c.414G>C (p.Gln138His)
c.543G>C (p.Gln181His)
19g.13025359G>TCA404314613NFIXc.363G>T (p.Gln121His)
c.184G>T
c.366G>T (p.Gln122His)
c.390G>T (p.Gln130His)
c.375G>T (p.Gln125His)
c.225G>T (p.Gln75His)
c.342G>T (p.Gln114His)
c.*197G>T (n.*197G>T)
c.414G>T (p.Gln138His)
c.543G>T (p.Gln181His)
19g.13025360G>ACA404314616NFIXc.364G>A (p.Ala122Thr)
c.185G>A
c.367G>A (p.Ala123Thr)
c.391G>A (p.Ala131Thr)
c.376G>A (p.Ala126Thr)
c.226G>A (p.Ala76Thr)
c.343G>A (p.Ala115Thr)
c.*198G>A (n.*198G>A)
c.415G>A (p.Ala139Thr)
c.544G>A (p.Ala182Thr)
19g.13025360G>CCA404314617NFIXc.364G>C (p.Ala122Pro)
c.185G>C
c.367G>C (p.Ala123Pro)
c.391G>C (p.Ala131Pro)
c.376G>C (p.Ala126Pro)
c.226G>C (p.Ala76Pro)
c.343G>C (p.Ala115Pro)
c.*198G>C (n.*198G>C)
c.415G>C (p.Ala139Pro)
c.544G>C (p.Ala182Pro)
19g.13025360G>TCA404314618NFIXc.364G>T (p.Ala122Ser)
c.185G>T
c.367G>T (p.Ala123Ser)
c.391G>T (p.Ala131Ser)
c.376G>T (p.Ala126Ser)
c.226G>T (p.Ala76Ser)
c.343G>T (p.Ala115Ser)
c.*198G>T (n.*198G>T)
c.415G>T (p.Ala139Ser)
c.544G>T (p.Ala182Ser)
19g.13025361C>ACA404314619NFIXc.365C>A (p.Ala122Asp)
c.186C>A
c.368C>A (p.Ala123Asp)
c.392C>A (p.Ala131Asp)
c.377C>A (p.Ala126Asp)
c.227C>A (p.Ala76Asp)
c.344C>A (p.Ala115Asp)
c.*199C>A (n.*199C>A)
c.416C>A (p.Ala139Asp)
c.545C>A (p.Ala182Asp)
19g.13025361C>GCA404314620NFIXc.365C>G (p.Ala122Gly)
c.186C>G
c.368C>G (p.Ala123Gly)
c.392C>G (p.Ala131Gly)
c.377C>G (p.Ala126Gly)
c.227C>G (p.Ala76Gly)
c.344C>G (p.Ala115Gly)
c.*199C>G (n.*199C>G)
c.416C>G (p.Ala139Gly)
c.545C>G (p.Ala182Gly)
19g.13025361C>TCA404314621NFIXc.365C>T (p.Ala122Val)
c.186C>T
c.368C>T (p.Ala123Val)
c.392C>T (p.Ala131Val)
c.377C>T (p.Ala126Val)
c.227C>T (p.Ala76Val)
c.344C>T (p.Ala115Val)
c.*199C>T (n.*199C>T)
c.416C>T (p.Ala139Val)
c.545C>T (p.Ala182Val)
19g.13025362T>ACA505780765NFIXc.366T>A (p.Ala122=)
c.187T>A
c.369T>A (p.Ala123=)
c.393T>A (p.Ala131=)
c.378T>A (p.Ala126=)
c.228T>A (p.Ala76=)
c.345T>A (p.Ala115=)
c.*200T>A (n.*200T>A)
c.417T>A (p.Ala139=)
c.546T>A (p.Ala182=)
19g.13025362T>CCA505780766NFIXc.366T>C (p.Ala122=)
c.187T>C
c.369T>C (p.Ala123=)
c.393T>C (p.Ala131=)
c.378T>C (p.Ala126=)
c.228T>C (p.Ala76=)
c.345T>C (p.Ala115=)
c.*200T>C (n.*200T>C)
c.417T>C (p.Ala139=)
c.546T>C (p.Ala182=)
19g.13025362T>GCA505780767NFIXc.366T>G (p.Ala122=)
c.187T>G
c.369T>G (p.Ala123=)
c.393T>G (p.Ala131=)
c.378T>G (p.Ala126=)
c.228T>G (p.Ala76=)
c.345T>G (p.Ala115=)
c.*200T>G (n.*200T>G)
c.417T>G (p.Ala139=)
c.546T>G (p.Ala182=)
19g.13025363G>ACA404314622NFIXc.367G>A (p.Asp123Asn)
c.188G>A
c.370G>A (p.Asp124Asn)
c.394G>A (p.Asp132Asn)
c.379G>A (p.Asp127Asn)
c.229G>A (p.Asp77Asn)
c.346G>A (p.Asp116Asn)
c.*201G>A (n.*201G>A)
c.418G>A (p.Asp140Asn)
c.547G>A (p.Asp183Asn)
 ClinVar dbSNP
19g.13025363G>CCA404314623NFIXc.367G>C (p.Asp123His)
c.188G>C
c.370G>C (p.Asp124His)
c.394G>C (p.Asp132His)
c.379G>C (p.Asp127His)
c.229G>C (p.Asp77His)
c.346G>C (p.Asp116His)
c.*201G>C (n.*201G>C)
c.418G>C (p.Asp140His)
c.547G>C (p.Asp183His)
19g.13025363G=CA2323688914NFIXc.367G= (p.Asp123=)
c.188G=
c.370G= (p.Asp124=)
c.394G= (p.Asp132=)
c.379G= (p.Asp127=)
c.229G= (p.Asp77=)
c.346G= (p.Asp116=)
c.*201G= (n.*201G=)
c.418G= (p.Asp140=)
c.547G= (p.Asp183=)
19g.13025363G>TCA404314624NFIXc.367G>T (p.Asp123Tyr)
c.188G>T
c.370G>T (p.Asp124Tyr)
c.394G>T (p.Asp132Tyr)
c.379G>T (p.Asp127Tyr)
c.229G>T (p.Asp77Tyr)
c.346G>T (p.Asp116Tyr)
c.*201G>T (n.*201G>T)
c.418G>T (p.Asp140Tyr)
c.547G>T (p.Asp183Tyr)
19g.13025363_13025365delinsACA2695228220NFIXc.367_369delinsA (p.Asp123LysfsTer14)
c.188_190delinsA
c.370_372delinsA (p.Asp124LysfsTer14)
c.394_396delinsA (p.Asp132LysfsTer14)
c.379_381delinsA (p.Asp127LysfsTer14)
c.229_231delinsA (p.Asp77LysfsTer?)
c.346_348delinsA (p.Asp116LysfsTer14)
c.*201_*203delinsA (n.*201_*203delinsA)
c.229_231delinsA (p.Asp77LysfsTer14)
c.418_420delinsA (p.Asp140LysfsTer14)
c.547_549delinsA (p.Asp183LysfsTer14)
19g.13025364A>CCA404314628NFIXc.368A>C (p.Asp123Ala)
c.189A>C
c.371A>C (p.Asp124Ala)
c.395A>C (p.Asp132Ala)
c.380A>C (p.Asp127Ala)
c.230A>C (p.Asp77Ala)
c.347A>C (p.Asp116Ala)
c.*202A>C (n.*202A>C)
c.419A>C (p.Asp140Ala)
c.548A>C (p.Asp183Ala)
19g.13025364A>GCA404314627NFIXc.368A>G (p.Asp123Gly)
c.189A>G
c.371A>G (p.Asp124Gly)
c.395A>G (p.Asp132Gly)
c.380A>G (p.Asp127Gly)
c.230A>G (p.Asp77Gly)
c.347A>G (p.Asp116Gly)
c.*202A>G (n.*202A>G)
c.419A>G (p.Asp140Gly)
c.548A>G (p.Asp183Gly)
19g.13025364A>TCA404314625NFIXc.368A>T (p.Asp123Val)
c.189A>T
c.371A>T (p.Asp124Val)
c.395A>T (p.Asp132Val)
c.380A>T (p.Asp127Val)
c.230A>T (p.Asp77Val)
c.347A>T (p.Asp116Val)
c.*202A>T (n.*202A>T)
c.419A>T (p.Asp140Val)
c.548A>T (p.Asp183Val)
19g.13025365C>ACA404314631NFIXc.369C>A (p.Asp123Glu)
c.190C>A
c.372C>A (p.Asp124Glu)
c.396C>A (p.Asp132Glu)
c.381C>A (p.Asp127Glu)
c.231C>A (p.Asp77Glu)
c.348C>A (p.Asp116Glu)
c.*203C>A (n.*203C>A)
c.420C>A (p.Asp140Glu)
c.549C>A (p.Asp183Glu)
 gnomAD v4
19g.13025365C>GCA404314633NFIXc.369C>G (p.Asp123Glu)
c.190C>G
c.372C>G (p.Asp124Glu)
c.396C>G (p.Asp132Glu)
c.381C>G (p.Asp127Glu)
c.231C>G (p.Asp77Glu)
c.348C>G (p.Asp116Glu)
c.*203C>G (n.*203C>G)
c.420C>G (p.Asp140Glu)
c.549C>G (p.Asp183Glu)
19g.13025365C>TCA505780768NFIXc.369C>T (p.Asp123=)
c.190C>T
c.372C>T (p.Asp124=)
c.396C>T (p.Asp132=)
c.381C>T (p.Asp127=)
c.231C>T (p.Asp77=)
c.348C>T (p.Asp116=)
c.*203C>T (n.*203C>T)
c.420C>T (p.Asp140=)
c.549C>T (p.Asp183=)
 gnomAD v4
19g.13025366A>CCA404314635NFIXc.370A>C (p.Lys124Gln)
c.191A>C
c.373A>C (p.Lys125Gln)
c.397A>C (p.Lys133Gln)
c.382A>C (p.Lys128Gln)
c.232A>C (p.Lys78Gln)
c.349A>C (p.Lys117Gln)
c.*204A>C (n.*204A>C)
c.421A>C (p.Lys141Gln)
c.550A>C (p.Lys184Gln)
19g.13025366A>GCA404314636NFIXc.370A>G (p.Lys124Glu)
c.191A>G
c.373A>G (p.Lys125Glu)
c.397A>G (p.Lys133Glu)
c.382A>G (p.Lys128Glu)
c.232A>G (p.Lys78Glu)
c.349A>G (p.Lys117Glu)
c.*204A>G (n.*204A>G)
c.421A>G (p.Lys141Glu)
c.550A>G (p.Lys184Glu)
 ClinVar dbSNP
19g.13025366A>TCA404314641NFIXc.370A>T (p.Lys124Ter)
c.191A>T
c.373A>T (p.Lys125Ter)
c.397A>T (p.Lys133Ter)
c.382A>T (p.Lys128Ter)
c.232A>T (p.Lys78Ter)
c.349A>T (p.Lys117Ter)
c.*204A>T (n.*204A>T)
c.421A>T (p.Lys141Ter)
c.550A>T (p.Lys184Ter)
19g.13025366_13025390delCA2739291183NFIXc.370_394del (p.Lys124TrpfsTer2)
c.191_215del
c.373_397del (p.Lys125TrpfsTer2)
c.397_421del (p.Lys133TrpfsTer2)
c.382_406del (p.Lys128TrpfsTer2)
c.232_234+22del
c.349_373del (p.Lys117TrpfsTer2)
c.*204_*228del (n.*204_*228del)
c.232_256del (p.Lys78TrpfsTer2)
c.421_445del (p.Lys141TrpfsTer2)
c.550_574del (p.Lys184TrpfsTer2)
19g.13025367A>CCA404314643NFIXc.371A>C (p.Lys124Thr)
c.192A>C
c.374A>C (p.Lys125Thr)
c.398A>C (p.Lys133Thr)
c.383A>C (p.Lys128Thr)
c.233A>C (p.Lys78Thr)
c.350A>C (p.Lys117Thr)
c.*205A>C (n.*205A>C)
c.422A>C (p.Lys141Thr)
c.551A>C (p.Lys184Thr)
19g.13025367A>GCA404314645NFIXc.371A>G (p.Lys124Arg)
c.192A>G
c.374A>G (p.Lys125Arg)
c.398A>G (p.Lys133Arg)
c.383A>G (p.Lys128Arg)
c.233A>G (p.Lys78Arg)
c.350A>G (p.Lys117Arg)
c.*205A>G (n.*205A>G)
c.422A>G (p.Lys141Arg)
c.551A>G (p.Lys184Arg)
19g.13025367A>TCA404314650NFIXc.371A>T (p.Lys124Met)
c.192A>T
c.374A>T (p.Lys125Met)
c.398A>T (p.Lys133Met)
c.383A>T (p.Lys128Met)
c.233A>T (p.Lys78Met)
c.350A>T (p.Lys117Met)
c.*205A>T (n.*205A>T)
c.422A>T (p.Lys141Met)
c.551A>T (p.Lys184Met)
 COSMIC COSMIC COSMIC COSMIC
19g.13025368G>ACA505780769NFIXc.372G>A (p.Lys124=)
c.193G>A
c.375G>A (p.Lys125=)
c.399G>A (p.Lys133=)
c.384G>A (p.Lys128=)
c.234G>A (p.Lys78=)
c.351G>A (p.Lys117=)
c.*206G>A (n.*206G>A)
c.423G>A (p.Lys141=)
c.552G>A (p.Lys184=)
 dbSNP gnomAD v3 gnomAD v4
19g.13025368G>CCA404314653NFIXc.372G>C (p.Lys124Asn)
c.193G>C
c.375G>C (p.Lys125Asn)
c.399G>C (p.Lys133Asn)
c.384G>C (p.Lys128Asn)
c.234G>C (p.Lys78Asn)
c.351G>C (p.Lys117Asn)
c.*206G>C (n.*206G>C)
c.423G>C (p.Lys141Asn)
c.552G>C (p.Lys184Asn)
19g.13025368G=CA2323688915NFIXc.372G= (p.Lys124=)
c.193G=
c.375G= (p.Lys125=)
c.399G= (p.Lys133=)
c.384G= (p.Lys128=)
c.234G= (p.Lys78=)
c.351G= (p.Lys117=)
c.*206G= (n.*206G=)
c.423G= (p.Lys141=)
c.552G= (p.Lys184=)
19g.13025368G>TCA404314654NFIXc.372G>T (p.Lys124Asn)
c.193G>T
c.375G>T (p.Lys125Asn)
c.399G>T (p.Lys133Asn)
c.384G>T (p.Lys128Asn)
c.234G>T (p.Lys78Asn)
c.351G>T (p.Lys117Asn)
c.*206G>T (n.*206G>T)
c.423G>T (p.Lys141Asn)
c.552G>T (p.Lys184Asn)
19g.13025369G>ACA404314657NFIXc.373G>A (p.Val125Met)
c.194G>A
c.376G>A (p.Val126Met)
c.400G>A (p.Val134Met)
c.385G>A (p.Val129Met)
c.234+1G>A (n.234+1G>A)
c.352G>A (p.Val118Met)
c.*207G>A (n.*207G>A)
c.235G>A (p.Val79Met)
c.424G>A (p.Val142Met)
c.553G>A (p.Val185Met)
19g.13025369G>CCA404314659NFIXc.373G>C (p.Val125Leu)
c.194G>C
c.376G>C (p.Val126Leu)
c.400G>C (p.Val134Leu)
c.385G>C (p.Val129Leu)
c.234+1G>C (n.234+1G>C)
c.352G>C (p.Val118Leu)
c.*207G>C (n.*207G>C)
c.235G>C (p.Val79Leu)
c.424G>C (p.Val142Leu)
c.553G>C (p.Val185Leu)
19g.13025369G>TCA404314663NFIXc.373G>T (p.Val125Leu)
c.194G>T
c.376G>T (p.Val126Leu)
c.400G>T (p.Val134Leu)
c.385G>T (p.Val129Leu)
c.234+1G>T (n.234+1G>T)
c.352G>T (p.Val118Leu)
c.*207G>T (n.*207G>T)
c.235G>T (p.Val79Leu)
c.424G>T (p.Val142Leu)
c.553G>T (p.Val185Leu)
 gnomAD v4
19g.13025370T>ACA404314687NFIXc.374T>A (p.Val125Glu)
c.195T>A
c.377T>A (p.Val126Glu)
c.401T>A (p.Val134Glu)
c.386T>A (p.Val129Glu)
c.234+2T>A (n.234+2T>A)
c.353T>A (p.Val118Glu)
c.*208T>A (n.*208T>A)
c.236T>A (p.Val79Glu)
c.425T>A (p.Val142Glu)
c.554T>A (p.Val185Glu)
19g.13025370T>CCA404314684NFIXc.374T>C (p.Val125Ala)
c.195T>C
c.377T>C (p.Val126Ala)
c.401T>C (p.Val134Ala)
c.386T>C (p.Val129Ala)
c.234+2T>C (n.234+2T>C)
c.353T>C (p.Val118Ala)
c.*208T>C (n.*208T>C)
c.236T>C (p.Val79Ala)
c.425T>C (p.Val142Ala)
c.554T>C (p.Val185Ala)
19g.13025370T>GCA404314681NFIXc.374T>G (p.Val125Gly)
c.195T>G
c.377T>G (p.Val126Gly)
c.401T>G (p.Val134Gly)
c.386T>G (p.Val129Gly)
c.234+2T>G (n.234+2T>G)
c.353T>G (p.Val118Gly)
c.*208T>G (n.*208T>G)
c.236T>G (p.Val79Gly)
c.425T>G (p.Val142Gly)
c.554T>G (p.Val185Gly)
19g.13025371G>ACA505780770NFIXc.375G>A (p.Val125=)
c.196G>A
c.378G>A (p.Val126=)
c.402G>A (p.Val134=)
c.387G>A (p.Val129=)
c.234+3G>A (n.234+3G>A)
c.354G>A (p.Val118=)
c.*209G>A (n.*209G>A)
c.237G>A (p.Val79=)
c.426G>A (p.Val142=)
c.555G>A (p.Val185=)
19g.13025371G>CCA505780771NFIXc.375G>C (p.Val125=)
c.196G>C
c.378G>C (p.Val126=)
c.402G>C (p.Val134=)
c.387G>C (p.Val129=)
c.234+3G>C (n.234+3G>C)
c.354G>C (p.Val118=)
c.*209G>C (n.*209G>C)
c.237G>C (p.Val79=)
c.426G>C (p.Val142=)
c.555G>C (p.Val185=)
19g.13025371G>TCA505780772NFIXc.375G>T (p.Val125=)
c.196G>T
c.378G>T (p.Val126=)
c.402G>T (p.Val134=)
c.387G>T (p.Val129=)
c.234+3G>T (n.234+3G>T)
c.354G>T (p.Val118=)
c.*209G>T (n.*209G>T)
c.237G>T (p.Val79=)
c.426G>T (p.Val142=)
c.555G>T (p.Val185=)

Number of alleles fetched