Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13025150_13025170delCA2695228210NFIXc.154_174del (p.Glu52_Glu58del)
c.157_177del (p.Glu53_Glu59del)
c.181_201del (p.Glu61_Glu67del)
c.166_186del (p.Glu56_Glu62del)
c.16_36del (p.Glu6_Glu12del)
c.133_153del (p.Glu45_Glu51del)
c.168_*8del (n.[c.168_*8del;Arg56SerfsTer?])
c.205_225del (p.Glu69_Glu75del)
c.334_354del (p.Glu112_Glu118del)
19g.13025166A>CCA404313580NFIXc.170A>C (p.Asp57Ala)
c.173A>C (p.Asp58Ala)
c.197A>C (p.Asp66Ala)
c.182A>C (p.Asp61Ala)
c.32A>C (p.Asp11Ala)
c.149A>C (p.Asp50Ala)
c.*4A>C (n.*4A>C)
c.221A>C (p.Asp74Ala)
c.350A>C (p.Asp117Ala)
19g.13025166A>GCA404313578NFIXc.170A>G (p.Asp57Gly)
c.173A>G (p.Asp58Gly)
c.197A>G (p.Asp66Gly)
c.182A>G (p.Asp61Gly)
c.32A>G (p.Asp11Gly)
c.149A>G (p.Asp50Gly)
c.*4A>G (n.*4A>G)
c.221A>G (p.Asp74Gly)
c.350A>G (p.Asp117Gly)
19g.13025166A>TCA404313579NFIXc.170A>T (p.Asp57Val)
c.173A>T (p.Asp58Val)
c.197A>T (p.Asp66Val)
c.182A>T (p.Asp61Val)
c.32A>T (p.Asp11Val)
c.149A>T (p.Asp50Val)
c.*4A>T (n.*4A>T)
c.221A>T (p.Asp74Val)
c.350A>T (p.Asp117Val)
19g.13025167C>ACA305548079NFIXc.171C>A (p.Asp57Glu)
c.174C>A (p.Asp58Glu)
c.198C>A (p.Asp66Glu)
c.183C>A (p.Asp61Glu)
c.33C>A (p.Asp11Glu)
c.150C>A (p.Asp50Glu)
c.*5C>A (n.*5C>A)
c.222C>A (p.Asp74Glu)
c.351C>A (p.Asp117Glu)
 dbSNP
19g.13025167C=CA2323688850NFIXc.171C= (p.Asp57=)
c.174C= (p.Asp58=)
c.198C= (p.Asp66=)
c.183C= (p.Asp61=)
c.33C= (p.Asp11=)
c.150C= (p.Asp50=)
c.*5C= (n.*5C=)
c.222C= (p.Asp74=)
c.351C= (p.Asp117=)
19g.13025167C>GCA404313582NFIXc.171C>G (p.Asp57Glu)
c.174C>G (p.Asp58Glu)
c.198C>G (p.Asp66Glu)
c.183C>G (p.Asp61Glu)
c.33C>G (p.Asp11Glu)
c.150C>G (p.Asp50Glu)
c.*5C>G (n.*5C>G)
c.222C>G (p.Asp74Glu)
c.351C>G (p.Asp117Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13025167C>TCA505780915NFIXc.171C>T (p.Asp57=)
c.174C>T (p.Asp58=)
c.198C>T (p.Asp66=)
c.183C>T (p.Asp61=)
c.33C>T (p.Asp11=)
c.150C>T (p.Asp50=)
c.*5C>T (n.*5C>T)
c.222C>T (p.Asp74=)
c.351C>T (p.Asp117=)
 gnomAD v4
19g.13025167dupCA2695228212NFIXc.171dup (p.Glu58ArgfsTer?)
c.174dup (p.Glu59ArgfsTer?)
c.198dup (p.Glu67ArgfsTer?)
c.183dup (p.Glu62ArgfsTer?)
c.33dup (p.Glu12ArgfsTer?)
c.150dup (p.Glu51ArgfsTer?)
c.*5dup (n.*5dup)
c.222dup (p.Glu75ArgfsTer?)
c.351dup (p.Glu118ArgfsTer?)
19g.13025168G>ACA404313585NFIXc.172G>A (p.Glu58Lys)
c.175G>A (p.Glu59Lys)
c.199G>A (p.Glu67Lys)
c.184G>A (p.Glu62Lys)
c.34G>A (p.Glu12Lys)
c.151G>A (p.Glu51Lys)
c.*6G>A (n.*6G>A)
c.223G>A (p.Glu75Lys)
c.352G>A (p.Glu118Lys)
 ClinVar dbSNP
19g.13025168G>CCA404313586NFIXc.172G>C (p.Glu58Gln)
c.175G>C (p.Glu59Gln)
c.199G>C (p.Glu67Gln)
c.184G>C (p.Glu62Gln)
c.34G>C (p.Glu12Gln)
c.151G>C (p.Glu51Gln)
c.*6G>C (n.*6G>C)
c.223G>C (p.Glu75Gln)
c.352G>C (p.Glu118Gln)
19g.13025168G>TCA404313589NFIXc.172G>T (p.Glu58Ter)
c.175G>T (p.Glu59Ter)
c.199G>T (p.Glu67Ter)
c.184G>T (p.Glu62Ter)
c.34G>T (p.Glu12Ter)
c.151G>T (p.Glu51Ter)
c.*6G>T (n.*6G>T)
c.223G>T (p.Glu75Ter)
c.352G>T (p.Glu118Ter)
 COSMIC COSMIC COSMIC COSMIC
19g.13025169A>CCA404313592NFIXc.173A>C (p.Glu58Ala)
c.176A>C (p.Glu59Ala)
c.200A>C (p.Glu67Ala)
c.185A>C (p.Glu62Ala)
c.35A>C (p.Glu12Ala)
c.152A>C (p.Glu51Ala)
c.*7A>C (n.*7A>C)
c.224A>C (p.Glu75Ala)
c.353A>C (p.Glu118Ala)
19g.13025169A>GCA404313594NFIXc.173A>G (p.Glu58Gly)
c.176A>G (p.Glu59Gly)
c.200A>G (p.Glu67Gly)
c.185A>G (p.Glu62Gly)
c.35A>G (p.Glu12Gly)
c.152A>G (p.Glu51Gly)
c.*7A>G (n.*7A>G)
c.224A>G (p.Glu75Gly)
c.353A>G (p.Glu118Gly)
19g.13025169A>TCA404313597NFIXc.173A>T (p.Glu58Val)
c.176A>T (p.Glu59Val)
c.200A>T (p.Glu67Val)
c.185A>T (p.Glu62Val)
c.35A>T (p.Glu12Val)
c.152A>T (p.Glu51Val)
c.*7A>T (n.*7A>T)
c.224A>T (p.Glu75Val)
c.353A>T (p.Glu118Val)
19g.13025170G>ACA505780918NFIXc.174G>A (p.Glu58=)
c.177G>A (p.Glu59=)
c.201G>A (p.Glu67=)
c.186G>A (p.Glu62=)
c.36G>A (p.Glu12=)
c.153G>A (p.Glu51=)
c.*8G>A (n.*8G>A)
c.225G>A (p.Glu75=)
c.354G>A (p.Glu118=)
 dbSNP gnomAD v2
19g.13025170G>CCA404313601NFIXc.174G>C (p.Glu58Asp)
c.177G>C (p.Glu59Asp)
c.201G>C (p.Glu67Asp)
c.186G>C (p.Glu62Asp)
c.36G>C (p.Glu12Asp)
c.153G>C (p.Glu51Asp)
c.*8G>C (n.*8G>C)
c.225G>C (p.Glu75Asp)
c.354G>C (p.Glu118Asp)
19g.13025170G=CA2323688851NFIXc.174G= (p.Glu58=)
c.177G= (p.Glu59=)
c.201G= (p.Glu67=)
c.186G= (p.Glu62=)
c.36G= (p.Glu12=)
c.153G= (p.Glu51=)
c.*8G= (n.*8G=)
c.225G= (p.Glu75=)
c.354G= (p.Glu118=)
19g.13025170G>TCA404313604NFIXc.174G>T (p.Glu58Asp)
c.177G>T (p.Glu59Asp)
c.201G>T (p.Glu67Asp)
c.186G>T (p.Glu62Asp)
c.36G>T (p.Glu12Asp)
c.153G>T (p.Glu51Asp)
c.*8G>T (n.*8G>T)
c.225G>T (p.Glu75Asp)
c.354G>T (p.Glu118Asp)
 COSMIC COSMIC
19g.13025171C>ACA404313608NFIXc.175C>A (p.Leu59Met)
c.178C>A (p.Leu60Met)
c.202C>A (p.Leu68Met)
c.187C>A (p.Leu63Met)
c.37C>A (p.Leu13Met)
c.154C>A (p.Leu52Met)
c.*9C>A (n.*9C>A)
c.226C>A (p.Leu76Met)
c.355C>A (p.Leu119Met)
19g.13025171C=CA2323688852NFIXc.175C= (p.Leu59=)
c.178C= (p.Leu60=)
c.202C= (p.Leu68=)
c.187C= (p.Leu63=)
c.37C= (p.Leu13=)
c.154C= (p.Leu52=)
c.*9C= (n.*9C=)
c.226C= (p.Leu76=)
c.355C= (p.Leu119=)
19g.13025171C>GCA404313611NFIXc.175C>G (p.Leu59Val)
c.178C>G (p.Leu60Val)
c.202C>G (p.Leu68Val)
c.187C>G (p.Leu63Val)
c.37C>G (p.Leu13Val)
c.154C>G (p.Leu52Val)
c.*9C>G (n.*9C>G)
c.226C>G (p.Leu76Val)
c.355C>G (p.Leu119Val)
19g.13025171C>TCA505780921NFIXc.175C>T (p.Leu59=)
c.178C>T (p.Leu60=)
c.202C>T (p.Leu68=)
c.187C>T (p.Leu63=)
c.37C>T (p.Leu13=)
c.154C>T (p.Leu52=)
c.*9C>T (n.*9C>T)
c.226C>T (p.Leu76=)
c.355C>T (p.Leu119=)
 gnomAD v4
19g.13025171_13025172delCA2695228213NFIXc.175_176del (p.Leu59AlafsTer?)
c.178_179del (p.Leu60AlafsTer?)
c.202_203del (p.Leu68AlafsTer?)
c.187_188del (p.Leu63AlafsTer?)
c.37_38del (p.Leu13AlafsTer?)
c.154_155del (p.Leu52AlafsTer?)
c.*9_*10del (n.*9_*10del)
c.226_227del (p.Leu76AlafsTer?)
c.355_356del (p.Leu119AlafsTer?)
19g.13025172delCA2573054717NFIXc.176del (p.Leu59ArgfsTer?)
c.179del (p.Leu60ArgfsTer?)
c.203del (p.Leu68ArgfsTer?)
c.188del (p.Leu63ArgfsTer?)
c.38del (p.Leu13ArgfsTer?)
c.155del (p.Leu52ArgfsTer?)
c.*10del (n.*10del)
c.227del (p.Leu76ArgfsTer?)
c.356del (p.Leu119ArgfsTer?)
 ClinVar dbSNP
19g.13025172T>ACA404313614NFIXc.176T>A (p.Leu59Gln)
c.179T>A (p.Leu60Gln)
c.203T>A (p.Leu68Gln)
c.188T>A (p.Leu63Gln)
c.38T>A (p.Leu13Gln)
c.155T>A (p.Leu52Gln)
c.*10T>A (n.*10T>A)
c.227T>A (p.Leu76Gln)
c.356T>A (p.Leu119Gln)
19g.13025172T>CCA130005NFIXc.176T>C (p.Leu59Pro)
c.179T>C (p.Leu60Pro)
c.203T>C (p.Leu68Pro)
c.188T>C (p.Leu63Pro)
c.38T>C (p.Leu13Pro)
c.155T>C (p.Leu52Pro)
c.*10T>C (n.*10T>C)
c.227T>C (p.Leu76Pro)
c.356T>C (p.Leu119Pro)
 ClinVar dbSNP
19g.13025172T>GCA404313620NFIXc.176T>G (p.Leu59Arg)
c.179T>G (p.Leu60Arg)
c.203T>G (p.Leu68Arg)
c.188T>G (p.Leu63Arg)
c.38T>G (p.Leu13Arg)
c.155T>G (p.Leu52Arg)
c.*10T>G (n.*10T>G)
c.227T>G (p.Leu76Arg)
c.356T>G (p.Leu119Arg)
19g.13025172T=CA2323688853NFIXc.176T= (p.Leu59=)
c.179T= (p.Leu60=)
c.203T= (p.Leu68=)
c.188T= (p.Leu63=)
c.38T= (p.Leu13=)
c.155T= (p.Leu52=)
c.*10T= (n.*10T=)
c.227T= (p.Leu76=)
c.356T= (p.Leu119=)
19g.13025172dupCA915952539NFIXc.176dup (p.Leu60AlafsTer?)
c.179dup (p.Leu61AlafsTer?)
c.203dup (p.Leu69AlafsTer?)
c.188dup (p.Leu64AlafsTer?)
c.38dup (p.Leu14AlafsTer?)
c.155dup (p.Leu53AlafsTer?)
c.*10dup (n.*10dup)
c.227dup (p.Leu77AlafsTer?)
c.356dup (p.Leu120AlafsTer?)
 ClinVar dbSNP
19g.13025173G>ACA505780923NFIXc.177G>A (p.Leu59=)
c.180G>A (p.Leu60=)
c.204G>A (p.Leu68=)
c.189G>A (p.Leu63=)
c.39G>A (p.Leu13=)
c.156G>A (p.Leu52=)
c.*11G>A (n.*11G>A)
c.228G>A (p.Leu76=)
c.357G>A (p.Leu119=)
19g.13025173G>CCA505780924NFIXc.177G>C (p.Leu59=)
c.180G>C (p.Leu60=)
c.204G>C (p.Leu68=)
c.189G>C (p.Leu63=)
c.39G>C (p.Leu13=)
c.156G>C (p.Leu52=)
c.*11G>C (n.*11G>C)
c.228G>C (p.Leu76=)
c.357G>C (p.Leu119=)
19g.13025173G>TCA505780925NFIXc.177G>T (p.Leu59=)
c.180G>T (p.Leu60=)
c.204G>T (p.Leu68=)
c.189G>T (p.Leu63=)
c.39G>T (p.Leu13=)
c.156G>T (p.Leu52=)
c.*11G>T (n.*11G>T)
c.228G>T (p.Leu76=)
c.357G>T (p.Leu119=)
19g.13025174C>ACA404313622NFIXc.178C>A (p.Leu60Met)
c.181C>A (p.Leu61Met)
c.205C>A (p.Leu69Met)
c.190C>A (p.Leu64Met)
c.40C>A (p.Leu14Met)
c.157C>A (p.Leu53Met)
c.*12C>A (n.*12C>A)
c.229C>A (p.Leu77Met)
c.358C>A (p.Leu120Met)
19g.13025174C=CA2323688854NFIXc.178C= (p.Leu60=)
c.181C= (p.Leu61=)
c.205C= (p.Leu69=)
c.190C= (p.Leu64=)
c.40C= (p.Leu14=)
c.157C= (p.Leu53=)
c.*12C= (n.*12C=)
c.229C= (p.Leu77=)
c.358C= (p.Leu120=)
19g.13025174C>GCA404313626NFIXc.178C>G (p.Leu60Val)
c.181C>G (p.Leu61Val)
c.205C>G (p.Leu69Val)
c.190C>G (p.Leu64Val)
c.40C>G (p.Leu14Val)
c.157C>G (p.Leu53Val)
c.*12C>G (n.*12C>G)
c.229C>G (p.Leu77Val)
c.358C>G (p.Leu120Val)
19g.13025174C>TCA505780928NFIXc.178C>T (p.Leu60=)
c.181C>T (p.Leu61=)
c.205C>T (p.Leu69=)
c.190C>T (p.Leu64=)
c.40C>T (p.Leu14=)
c.157C>T (p.Leu53=)
c.*12C>T (n.*12C>T)
c.229C>T (p.Leu77=)
c.358C>T (p.Leu120=)
 dbSNP gnomAD v2 gnomAD v4
19g.13025175T>ACA404313628NFIXc.179T>A (p.Leu60Gln)
c.182T>A (p.Leu61Gln)
c.206T>A (p.Leu69Gln)
c.191T>A (p.Leu64Gln)
c.41T>A (p.Leu14Gln)
c.158T>A (p.Leu53Gln)
c.*13T>A (n.*13T>A)
c.230T>A (p.Leu77Gln)
c.359T>A (p.Leu120Gln)
19g.13025175T>CCA404313630NFIXc.179T>C (p.Leu60Pro)
c.182T>C (p.Leu61Pro)
c.206T>C (p.Leu69Pro)
c.191T>C (p.Leu64Pro)
c.41T>C (p.Leu14Pro)
c.158T>C (p.Leu53Pro)
c.*13T>C (n.*13T>C)
c.230T>C (p.Leu77Pro)
c.359T>C (p.Leu120Pro)
19g.13025175T>GCA404313632NFIXc.179T>G (p.Leu60Arg)
c.182T>G (p.Leu61Arg)
c.206T>G (p.Leu69Arg)
c.191T>G (p.Leu64Arg)
c.41T>G (p.Leu14Arg)
c.158T>G (p.Leu53Arg)
c.*13T>G (n.*13T>G)
c.230T>G (p.Leu77Arg)
c.359T>G (p.Leu120Arg)
19g.13025176G>ACA9236956NFIXc.180G>A (p.Leu60=)
c.1G>A
c.183G>A (p.Leu61=)
c.207G>A (p.Leu69=)
c.192G>A (p.Leu64=)
c.42G>A (p.Leu14=)
c.159G>A (p.Leu53=)
c.*14G>A (n.*14G>A)
c.231G>A (p.Leu77=)
c.360G>A (p.Leu120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13025176G>CCA505780932NFIXc.180G>C (p.Leu60=)
c.1G>C
c.183G>C (p.Leu61=)
c.207G>C (p.Leu69=)
c.192G>C (p.Leu64=)
c.42G>C (p.Leu14=)
c.159G>C (p.Leu53=)
c.*14G>C (n.*14G>C)
c.231G>C (p.Leu77=)
c.360G>C (p.Leu120=)
19g.13025176G=CA2323688855NFIXc.180G= (p.Leu60=)
c.1G=
c.183G= (p.Leu61=)
c.207G= (p.Leu69=)
c.192G= (p.Leu64=)
c.42G= (p.Leu14=)
c.159G= (p.Leu53=)
c.*14G= (n.*14G=)
c.231G= (p.Leu77=)
c.360G= (p.Leu120=)
19g.13025176G>TCA505780931NFIXc.180G>T (p.Leu60=)
c.1G>T
c.183G>T (p.Leu61=)
c.207G>T (p.Leu69=)
c.192G>T (p.Leu64=)
c.42G>T (p.Leu14=)
c.159G>T (p.Leu53=)
c.*14G>T (n.*14G>T)
c.231G>T (p.Leu77=)
c.360G>T (p.Leu120=)
19g.13025177G>ACA404313635NFIXc.181G>A (p.Gly61Ser)
c.2G>A
c.184G>A (p.Gly62Ser)
c.208G>A (p.Gly70Ser)
c.193G>A (p.Gly65Ser)
c.43G>A (p.Gly15Ser)
c.160G>A (p.Gly54Ser)
c.*15G>A (n.*15G>A)
c.232G>A (p.Gly78Ser)
c.361G>A (p.Gly121Ser)
19g.13025177G>CCA404313637NFIXc.181G>C (p.Gly61Arg)
c.2G>C
c.184G>C (p.Gly62Arg)
c.208G>C (p.Gly70Arg)
c.193G>C (p.Gly65Arg)
c.43G>C (p.Gly15Arg)
c.160G>C (p.Gly54Arg)
c.*15G>C (n.*15G>C)
c.232G>C (p.Gly78Arg)
c.361G>C (p.Gly121Arg)
19g.13025177G>TCA404313639NFIXc.181G>T (p.Gly61Cys)
c.2G>T
c.184G>T (p.Gly62Cys)
c.208G>T (p.Gly70Cys)
c.193G>T (p.Gly65Cys)
c.43G>T (p.Gly15Cys)
c.160G>T (p.Gly54Cys)
c.*15G>T (n.*15G>T)
c.232G>T (p.Gly78Cys)
c.361G>T (p.Gly121Cys)
 gnomAD v4
19g.13025178G>ACA404313645NFIXc.182G>A (p.Gly61Asp)
c.3G>A
c.185G>A (p.Gly62Asp)
c.209G>A (p.Gly70Asp)
c.194G>A (p.Gly65Asp)
c.44G>A (p.Gly15Asp)
c.161G>A (p.Gly54Asp)
c.*16G>A (n.*16G>A)
c.233G>A (p.Gly78Asp)
c.362G>A (p.Gly121Asp)
19g.13025178G>CCA404313642NFIXc.182G>C (p.Gly61Ala)
c.3G>C
c.185G>C (p.Gly62Ala)
c.209G>C (p.Gly70Ala)
c.194G>C (p.Gly65Ala)
c.44G>C (p.Gly15Ala)
c.161G>C (p.Gly54Ala)
c.*16G>C (n.*16G>C)
c.233G>C (p.Gly78Ala)
c.362G>C (p.Gly121Ala)
19g.13025178G>TCA404313644NFIXc.182G>T (p.Gly61Val)
c.3G>T
c.185G>T (p.Gly62Val)
c.209G>T (p.Gly70Val)
c.194G>T (p.Gly65Val)
c.44G>T (p.Gly15Val)
c.161G>T (p.Gly54Val)
c.*16G>T (n.*16G>T)
c.233G>T (p.Gly78Val)
c.362G>T (p.Gly121Val)
19g.13025179C>ACA505780937NFIXc.183C>A (p.Gly61=)
c.4C>A
c.186C>A (p.Gly62=)
c.210C>A (p.Gly70=)
c.195C>A (p.Gly65=)
c.45C>A (p.Gly15=)
c.162C>A (p.Gly54=)
c.*17C>A (n.*17C>A)
c.234C>A (p.Gly78=)
c.363C>A (p.Gly121=)
19g.13025179C=CA2323688856NFIXc.183C= (p.Gly61=)
c.4C=
c.186C= (p.Gly62=)
c.210C= (p.Gly70=)
c.195C= (p.Gly65=)
c.45C= (p.Gly15=)
c.162C= (p.Gly54=)
c.*17C= (n.*17C=)
c.234C= (p.Gly78=)
c.363C= (p.Gly121=)
19g.13025179C>GCA16608047NFIXc.183C>G (p.Gly61=)
c.4C>G
c.186C>G (p.Gly62=)
c.210C>G (p.Gly70=)
c.195C>G (p.Gly65=)
c.45C>G (p.Gly15=)
c.162C>G (p.Gly54=)
c.*17C>G (n.*17C>G)
c.234C>G (p.Gly78=)
c.363C>G (p.Gly121=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.13025179C>TCA505780938NFIXc.183C>T (p.Gly61=)
c.4C>T
c.186C>T (p.Gly62=)
c.210C>T (p.Gly70=)
c.195C>T (p.Gly65=)
c.45C>T (p.Gly15=)
c.162C>T (p.Gly54=)
c.*17C>T (n.*17C>T)
c.234C>T (p.Gly78=)
c.363C>T (p.Gly121=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13025180G>ACA404313648NFIXc.184G>A (p.Glu62Lys)
c.5G>A
c.187G>A (p.Glu63Lys)
c.211G>A (p.Glu71Lys)
c.196G>A (p.Glu66Lys)
c.46G>A (p.Glu16Lys)
c.163G>A (p.Glu55Lys)
c.*18G>A (n.*18G>A)
c.235G>A (p.Glu79Lys)
c.364G>A (p.Glu122Lys)
 ClinVar
19g.13025180G>CCA404313650NFIXc.184G>C (p.Glu62Gln)
c.5G>C
c.187G>C (p.Glu63Gln)
c.211G>C (p.Glu71Gln)
c.196G>C (p.Glu66Gln)
c.46G>C (p.Glu16Gln)
c.163G>C (p.Glu55Gln)
c.*18G>C (n.*18G>C)
c.235G>C (p.Glu79Gln)
c.364G>C (p.Glu122Gln)
19g.13025180G=CA2323688857NFIXc.184G= (p.Glu62=)
c.5G=
c.187G= (p.Glu63=)
c.211G= (p.Glu71=)
c.196G= (p.Glu66=)
c.46G= (p.Glu16=)
c.163G= (p.Glu55=)
c.*18G= (n.*18G=)
c.235G= (p.Glu79=)
c.364G= (p.Glu122=)
19g.13025180G>TCA404313651NFIXc.184G>T (p.Glu62Ter)
c.5G>T
c.187G>T (p.Glu63Ter)
c.211G>T (p.Glu71Ter)
c.196G>T (p.Glu66Ter)
c.46G>T (p.Glu16Ter)
c.163G>T (p.Glu55Ter)
c.*18G>T (n.*18G>T)
c.235G>T (p.Glu79Ter)
c.364G>T (p.Glu122Ter)
 ClinVar dbSNP
19g.13025181A>CCA404313653NFIXc.185A>C (p.Glu62Ala)
c.6A>C
c.188A>C (p.Glu63Ala)
c.212A>C (p.Glu71Ala)
c.197A>C (p.Glu66Ala)
c.47A>C (p.Glu16Ala)
c.164A>C (p.Glu55Ala)
c.*19A>C (n.*19A>C)
c.236A>C (p.Glu79Ala)
c.365A>C (p.Glu122Ala)
19g.13025181A>GCA404313655NFIXc.185A>G (p.Glu62Gly)
c.6A>G
c.188A>G (p.Glu63Gly)
c.212A>G (p.Glu71Gly)
c.197A>G (p.Glu66Gly)
c.47A>G (p.Glu16Gly)
c.164A>G (p.Glu55Gly)
c.*19A>G (n.*19A>G)
c.236A>G (p.Glu79Gly)
c.365A>G (p.Glu122Gly)
19g.13025181A>TCA404313657NFIXc.185A>T (p.Glu62Val)
c.6A>T
c.188A>T (p.Glu63Val)
c.212A>T (p.Glu71Val)
c.197A>T (p.Glu66Val)
c.47A>T (p.Glu16Val)
c.164A>T (p.Glu55Val)
c.*19A>T (n.*19A>T)
c.236A>T (p.Glu79Val)
c.365A>T (p.Glu122Val)
19g.13025182G>ACA505780943NFIXc.186G>A (p.Glu62=)
c.7G>A
c.189G>A (p.Glu63=)
c.213G>A (p.Glu71=)
c.198G>A (p.Glu66=)
c.48G>A (p.Glu16=)
c.165G>A (p.Glu55=)
c.*20G>A (n.*20G>A)
c.237G>A (p.Glu79=)
c.366G>A (p.Glu122=)
19g.13025182G>CCA404313659NFIXc.186G>C (p.Glu62Asp)
c.7G>C
c.189G>C (p.Glu63Asp)
c.213G>C (p.Glu71Asp)
c.198G>C (p.Glu66Asp)
c.48G>C (p.Glu16Asp)
c.165G>C (p.Glu55Asp)
c.*20G>C (n.*20G>C)
c.237G>C (p.Glu79Asp)
c.366G>C (p.Glu122Asp)
19g.13025182G>TCA404313661NFIXc.186G>T (p.Glu62Asp)
c.7G>T
c.189G>T (p.Glu63Asp)
c.213G>T (p.Glu71Asp)
c.198G>T (p.Glu66Asp)
c.48G>T (p.Glu16Asp)
c.165G>T (p.Glu55Asp)
c.*20G>T (n.*20G>T)
c.237G>T (p.Glu79Asp)
c.366G>T (p.Glu122Asp)
19g.13025183A>CCA404313665NFIXc.187A>C (p.Lys63Gln)
c.8A>C
c.190A>C (p.Lys64Gln)
c.214A>C (p.Lys72Gln)
c.199A>C (p.Lys67Gln)
c.49A>C (p.Lys17Gln)
c.166A>C (p.Lys56Gln)
c.*21A>C (n.*21A>C)
c.238A>C (p.Lys80Gln)
c.367A>C (p.Lys123Gln)
19g.13025183A>GCA404313669NFIXc.187A>G (p.Lys63Glu)
c.8A>G
c.190A>G (p.Lys64Glu)
c.214A>G (p.Lys72Glu)
c.199A>G (p.Lys67Glu)
c.49A>G (p.Lys17Glu)
c.166A>G (p.Lys56Glu)
c.*21A>G (n.*21A>G)
c.238A>G (p.Lys80Glu)
c.367A>G (p.Lys123Glu)
19g.13025183A>TCA404313671NFIXc.187A>T (p.Lys63Ter)
c.8A>T
c.190A>T (p.Lys64Ter)
c.214A>T (p.Lys72Ter)
c.199A>T (p.Lys67Ter)
c.49A>T (p.Lys17Ter)
c.166A>T (p.Lys56Ter)
c.*21A>T (n.*21A>T)
c.238A>T (p.Lys80Ter)
c.367A>T (p.Lys123Ter)
19g.13025184delCA2695228214NFIXc.188del (p.Lys63SerfsTer30)
c.9del
c.191del (p.Lys64SerfsTer30)
c.215del (p.Lys72SerfsTer30)
c.200del (p.Lys67SerfsTer30)
c.50del (p.Lys17SerfsTer30)
c.167del (p.Lys56SerfsTer30)
c.*22del (n.*22del)
c.239del (p.Lys80SerfsTer30)
c.368del (p.Lys123SerfsTer30)
19g.13025184A>CCA404313676NFIXc.188A>C (p.Lys63Thr)
c.9A>C
c.191A>C (p.Lys64Thr)
c.215A>C (p.Lys72Thr)
c.200A>C (p.Lys67Thr)
c.50A>C (p.Lys17Thr)
c.167A>C (p.Lys56Thr)
c.*22A>C (n.*22A>C)
c.239A>C (p.Lys80Thr)
c.368A>C (p.Lys123Thr)
19g.13025184A>GCA404313678NFIXc.188A>G (p.Lys63Arg)
c.9A>G
c.191A>G (p.Lys64Arg)
c.215A>G (p.Lys72Arg)
c.200A>G (p.Lys67Arg)
c.50A>G (p.Lys17Arg)
c.167A>G (p.Lys56Arg)
c.*22A>G (n.*22A>G)
c.239A>G (p.Lys80Arg)
c.368A>G (p.Lys123Arg)
19g.13025184A>TCA404313675NFIXc.188A>T (p.Lys63Met)
c.9A>T
c.191A>T (p.Lys64Met)
c.215A>T (p.Lys72Met)
c.200A>T (p.Lys67Met)
c.50A>T (p.Lys17Met)
c.167A>T (p.Lys56Met)
c.*22A>T (n.*22A>T)
c.239A>T (p.Lys80Met)
c.368A>T (p.Lys123Met)
19g.13025185G>ACA505780946NFIXc.189G>A (p.Lys63=)
c.10G>A
c.192G>A (p.Lys64=)
c.216G>A (p.Lys72=)
c.201G>A (p.Lys67=)
c.51G>A (p.Lys17=)
c.168G>A (p.Lys56=)
c.*23G>A (n.*23G>A)
c.240G>A (p.Lys80=)
c.369G>A (p.Lys123=)
19g.13025185G>CCA404313682NFIXc.189G>C (p.Lys63Asn)
c.10G>C
c.192G>C (p.Lys64Asn)
c.216G>C (p.Lys72Asn)
c.201G>C (p.Lys67Asn)
c.51G>C (p.Lys17Asn)
c.168G>C (p.Lys56Asn)
c.*23G>C (n.*23G>C)
c.240G>C (p.Lys80Asn)
c.369G>C (p.Lys123Asn)
19g.13025185G>TCA404313680NFIXc.189G>T (p.Lys63Asn)
c.10G>T
c.192G>T (p.Lys64Asn)
c.216G>T (p.Lys72Asn)
c.201G>T (p.Lys67Asn)
c.51G>T (p.Lys17Asn)
c.168G>T (p.Lys56Asn)
c.*23G>T (n.*23G>T)
c.240G>T (p.Lys80Asn)
c.369G>T (p.Lys123Asn)
19g.13025186C>ACA404313685NFIXc.190C>A (p.Pro64Thr)
c.11C>A
c.193C>A (p.Pro65Thr)
c.217C>A (p.Pro73Thr)
c.202C>A (p.Pro68Thr)
c.52C>A (p.Pro18Thr)
c.169C>A (p.Pro57Thr)
c.*24C>A (n.*24C>A)
c.241C>A (p.Pro81Thr)
c.370C>A (p.Pro124Thr)
19g.13025186C>GCA404313686NFIXc.190C>G (p.Pro64Ala)
c.11C>G
c.193C>G (p.Pro65Ala)
c.217C>G (p.Pro73Ala)
c.202C>G (p.Pro68Ala)
c.52C>G (p.Pro18Ala)
c.169C>G (p.Pro57Ala)
c.*24C>G (n.*24C>G)
c.241C>G (p.Pro81Ala)
c.370C>G (p.Pro124Ala)
19g.13025186C>TCA404313687NFIXc.190C>T (p.Pro64Ser)
c.11C>T
c.193C>T (p.Pro65Ser)
c.217C>T (p.Pro73Ser)
c.202C>T (p.Pro68Ser)
c.52C>T (p.Pro18Ser)
c.169C>T (p.Pro57Ser)
c.*24C>T (n.*24C>T)
c.241C>T (p.Pro81Ser)
c.370C>T (p.Pro124Ser)
19g.13025188dupCA2580096543NFIXc.192dup (p.Glu65ArgfsTer?)
c.13dup
c.195dup (p.Glu66ArgfsTer?)
c.219dup (p.Glu74ArgfsTer?)
c.204dup (p.Glu69ArgfsTer?)
c.54dup (p.Glu19ArgfsTer?)
c.171dup (p.Glu58ArgfsTer?)
c.*26dup (n.*26dup)
c.243dup (p.Glu82ArgfsTer?)
c.372dup (p.Glu125ArgfsTer?)
 ClinVar
19g.13025186_13025187insTCAAGCA2582789067NFIXc.190_191insTCAAG (p.Pro64LeufsTer31)
c.11_12insTCAAG
c.193_194insTCAAG (p.Pro65LeufsTer31)
c.217_218insTCAAG (p.Pro73LeufsTer31)
c.202_203insTCAAG (p.Pro68LeufsTer31)
c.52_53insTCAAG (p.Pro18LeufsTer31)
c.169_170insTCAAG (p.Pro57LeufsTer31)
c.*24_*25insTCAAG (n.*24_*25insTCAAG)
c.241_242insTCAAG (p.Pro81LeufsTer31)
c.370_371insTCAAG (p.Pro124LeufsTer31)
 gnomAD v4
19g.13025187C>ACA404313690NFIXc.191C>A (p.Pro64His)
c.12C>A
c.194C>A (p.Pro65His)
c.218C>A (p.Pro73His)
c.203C>A (p.Pro68His)
c.53C>A (p.Pro18His)
c.170C>A (p.Pro57His)
c.*25C>A (n.*25C>A)
c.242C>A (p.Pro81His)
c.371C>A (p.Pro124His)
19g.13025187C>GCA404313692NFIXc.191C>G (p.Pro64Arg)
c.12C>G
c.194C>G (p.Pro65Arg)
c.218C>G (p.Pro73Arg)
c.203C>G (p.Pro68Arg)
c.53C>G (p.Pro18Arg)
c.170C>G (p.Pro57Arg)
c.*25C>G (n.*25C>G)
c.242C>G (p.Pro81Arg)
c.371C>G (p.Pro124Arg)
19g.13025187C>TCA404313694NFIXc.191C>T (p.Pro64Leu)
c.12C>T
c.194C>T (p.Pro65Leu)
c.218C>T (p.Pro73Leu)
c.203C>T (p.Pro68Leu)
c.53C>T (p.Pro18Leu)
c.170C>T (p.Pro57Leu)
c.*25C>T (n.*25C>T)
c.242C>T (p.Pro81Leu)
c.371C>T (p.Pro124Leu)
 dbSNP
19g.13025188C>ACA505780951NFIXc.192C>A (p.Pro64=)
c.13C>A
c.195C>A (p.Pro65=)
c.219C>A (p.Pro73=)
c.204C>A (p.Pro68=)
c.54C>A (p.Pro18=)
c.171C>A (p.Pro57=)
c.*26C>A (n.*26C>A)
c.243C>A (p.Pro81=)
c.372C>A (p.Pro124=)
 gnomAD v4
19g.13025188C>GCA505780953NFIXc.192C>G (p.Pro64=)
c.13C>G
c.195C>G (p.Pro65=)
c.219C>G (p.Pro73=)
c.204C>G (p.Pro68=)
c.54C>G (p.Pro18=)
c.171C>G (p.Pro57=)
c.*26C>G (n.*26C>G)
c.243C>G (p.Pro81=)
c.372C>G (p.Pro124=)
19g.13025188C>TCA505780954NFIXc.192C>T (p.Pro64=)
c.13C>T
c.195C>T (p.Pro65=)
c.219C>T (p.Pro73=)
c.204C>T (p.Pro68=)
c.54C>T (p.Pro18=)
c.171C>T (p.Pro57=)
c.*26C>T (n.*26C>T)
c.243C>T (p.Pro81=)
c.372C>T (p.Pro124=)
19g.13025189G>ACA404313696NFIXc.193G>A (p.Glu65Lys)
c.14G>A
c.196G>A (p.Glu66Lys)
c.220G>A (p.Glu74Lys)
c.205G>A (p.Glu69Lys)
c.55G>A (p.Glu19Lys)
c.172G>A (p.Glu58Lys)
c.*27G>A (n.*27G>A)
c.244G>A (p.Glu82Lys)
c.373G>A (p.Glu125Lys)
19g.13025189G>CCA404313697NFIXc.193G>C (p.Glu65Gln)
c.14G>C
c.196G>C (p.Glu66Gln)
c.220G>C (p.Glu74Gln)
c.205G>C (p.Glu69Gln)
c.55G>C (p.Glu19Gln)
c.172G>C (p.Glu58Gln)
c.*27G>C (n.*27G>C)
c.244G>C (p.Glu82Gln)
c.373G>C (p.Glu125Gln)
19g.13025189G>TCA404313699NFIXc.193G>T (p.Glu65Ter)
c.14G>T
c.196G>T (p.Glu66Ter)
c.220G>T (p.Glu74Ter)
c.205G>T (p.Glu69Ter)
c.55G>T (p.Glu19Ter)
c.172G>T (p.Glu58Ter)
c.*27G>T (n.*27G>T)
c.244G>T (p.Glu82Ter)
c.373G>T (p.Glu125Ter)
19g.13025190A>CCA404313701NFIXc.194A>C (p.Glu65Ala)
c.15A>C
c.197A>C (p.Glu66Ala)
c.221A>C (p.Glu74Ala)
c.206A>C (p.Glu69Ala)
c.56A>C (p.Glu19Ala)
c.173A>C (p.Glu58Ala)
c.*28A>C (n.*28A>C)
c.245A>C (p.Glu82Ala)
c.374A>C (p.Glu125Ala)
19g.13025190A>GCA404313703NFIXc.194A>G (p.Glu65Gly)
c.15A>G
c.197A>G (p.Glu66Gly)
c.221A>G (p.Glu74Gly)
c.206A>G (p.Glu69Gly)
c.56A>G (p.Glu19Gly)
c.173A>G (p.Glu58Gly)
c.*28A>G (n.*28A>G)
c.245A>G (p.Glu82Gly)
c.374A>G (p.Glu125Gly)
 COSMIC COSMIC COSMIC
19g.13025190A>TCA404313705NFIXc.194A>T (p.Glu65Val)
c.15A>T
c.197A>T (p.Glu66Val)
c.221A>T (p.Glu74Val)
c.206A>T (p.Glu69Val)
c.56A>T (p.Glu19Val)
c.173A>T (p.Glu58Val)
c.*28A>T (n.*28A>T)
c.245A>T (p.Glu82Val)
c.374A>T (p.Glu125Val)
19g.13025190_13025191insAGATCAAGCAGAAGAGAGATCAAGCAGAAGTCA2582789068NFIXc.194_195insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT (p.Ile66AspfsTer?)
c.15_16insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT
c.197_198insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT (p.Ile67AspfsTer?)
c.221_222insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT (p.Ile75AspfsTer?)
c.206_207insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT (p.Ile70AspfsTer?)
c.56_57insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT (p.Ile20AspfsTer?)
c.173_174insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT (p.Ile59AspfsTer?)
c.*28_*29insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT (n.*28_*29insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT)
c.245_246insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT (p.Ile83AspfsTer?)
c.374_375insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT (p.Ile126AspfsTer?)
 gnomAD v4
19g.13025191G>ACA505780962NFIXc.195G>A (p.Glu65=)
c.16G>A
c.198G>A (p.Glu66=)
c.222G>A (p.Glu74=)
c.207G>A (p.Glu69=)
c.57G>A (p.Glu19=)
c.174G>A (p.Glu58=)
c.*29G>A (n.*29G>A)
c.246G>A (p.Glu82=)
c.375G>A (p.Glu125=)
 dbSNP gnomAD v3 gnomAD v4
19g.13025191G>CCA404313709NFIXc.195G>C (p.Glu65Asp)
c.16G>C
c.198G>C (p.Glu66Asp)
c.222G>C (p.Glu74Asp)
c.207G>C (p.Glu69Asp)
c.57G>C (p.Glu19Asp)
c.174G>C (p.Glu58Asp)
c.*29G>C (n.*29G>C)
c.246G>C (p.Glu82Asp)
c.375G>C (p.Glu125Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.13025191G=CA2323688858NFIXc.195G= (p.Glu65=)
c.16G=
c.198G= (p.Glu66=)
c.222G= (p.Glu74=)
c.207G= (p.Glu69=)
c.57G= (p.Glu19=)
c.174G= (p.Glu58=)
c.*29G= (n.*29G=)
c.246G= (p.Glu82=)
c.375G= (p.Glu125=)
19g.13025191G>TCA404313708NFIXc.195G>T (p.Glu65Asp)
c.16G>T
c.198G>T (p.Glu66Asp)
c.222G>T (p.Glu74Asp)
c.207G>T (p.Glu69Asp)
c.57G>T (p.Glu19Asp)
c.174G>T (p.Glu58Asp)
c.*29G>T (n.*29G>T)
c.246G>T (p.Glu82Asp)
c.375G>T (p.Glu125Asp)
19g.13025192A=CA2323688859NFIXc.196A= (p.Ile66=)
c.17A=
c.199A= (p.Ile67=)
c.223A= (p.Ile75=)
c.208A= (p.Ile70=)
c.58A= (p.Ile20=)
c.175A= (p.Ile59=)
c.*30A= (n.*30A=)
c.247A= (p.Ile83=)
c.376A= (p.Ile126=)
19g.13025192A>CCA404313712NFIXc.196A>C (p.Ile66Leu)
c.17A>C
c.199A>C (p.Ile67Leu)
c.223A>C (p.Ile75Leu)
c.208A>C (p.Ile70Leu)
c.58A>C (p.Ile20Leu)
c.175A>C (p.Ile59Leu)
c.*30A>C (n.*30A>C)
c.247A>C (p.Ile83Leu)
c.376A>C (p.Ile126Leu)
19g.13025192A>GCA404313714NFIXc.196A>G (p.Ile66Val)
c.17A>G
c.199A>G (p.Ile67Val)
c.223A>G (p.Ile75Val)
c.208A>G (p.Ile70Val)
c.58A>G (p.Ile20Val)
c.175A>G (p.Ile59Val)
c.*30A>G (n.*30A>G)
c.247A>G (p.Ile83Val)
c.376A>G (p.Ile126Val)
19g.13025192A>TCA404313716NFIXc.196A>T (p.Ile66Phe)
c.17A>T
c.199A>T (p.Ile67Phe)
c.223A>T (p.Ile75Phe)
c.208A>T (p.Ile70Phe)
c.58A>T (p.Ile20Phe)
c.175A>T (p.Ile59Phe)
c.*30A>T (n.*30A>T)
c.247A>T (p.Ile83Phe)
c.376A>T (p.Ile126Phe)
19g.13025193T>ACA404313719NFIXc.197T>A (p.Ile66Asn)
c.18T>A
c.200T>A (p.Ile67Asn)
c.224T>A (p.Ile75Asn)
c.209T>A (p.Ile70Asn)
c.59T>A (p.Ile20Asn)
c.176T>A (p.Ile59Asn)
c.*31T>A (n.*31T>A)
c.248T>A (p.Ile83Asn)
c.377T>A (p.Ile126Asn)
19g.13025193T>CCA404313721NFIXc.197T>C (p.Ile66Thr)
c.18T>C
c.200T>C (p.Ile67Thr)
c.224T>C (p.Ile75Thr)
c.209T>C (p.Ile70Thr)
c.59T>C (p.Ile20Thr)
c.176T>C (p.Ile59Thr)
c.*31T>C (n.*31T>C)
c.248T>C (p.Ile83Thr)
c.377T>C (p.Ile126Thr)
19g.13025193T>GCA404313723NFIXc.197T>G (p.Ile66Ser)
c.18T>G
c.200T>G (p.Ile67Ser)
c.224T>G (p.Ile75Ser)
c.209T>G (p.Ile70Ser)
c.59T>G (p.Ile20Ser)
c.176T>G (p.Ile59Ser)
c.*31T>G (n.*31T>G)
c.248T>G (p.Ile83Ser)
c.377T>G (p.Ile126Ser)
19g.13025193_13025194dupCA920061902NFIXc.197_198dup (p.Lys67SerfsTer27)
c.18_19dup
c.200_201dup (p.Lys68SerfsTer27)
c.224_225dup (p.Lys76SerfsTer27)
c.209_210dup (p.Lys71SerfsTer27)
c.59_60dup (p.Lys21SerfsTer27)
c.176_177dup (p.Lys60SerfsTer27)
c.*31_*32dup (n.*31_*32dup)
c.248_249dup (p.Lys84SerfsTer27)
c.377_378dup (p.Lys127SerfsTer27)
 dbSNP
19g.13025194C>ACA505780970NFIXc.198C>A (p.Ile66=)
c.19C>A
c.201C>A (p.Ile67=)
c.225C>A (p.Ile75=)
c.210C>A (p.Ile70=)
c.60C>A (p.Ile20=)
c.177C>A (p.Ile59=)
c.*32C>A (n.*32C>A)
c.249C>A (p.Ile83=)
c.378C>A (p.Ile126=)
19g.13025194C>GCA404313725NFIXc.198C>G (p.Ile66Met)
c.19C>G
c.201C>G (p.Ile67Met)
c.225C>G (p.Ile75Met)
c.210C>G (p.Ile70Met)
c.60C>G (p.Ile20Met)
c.177C>G (p.Ile59Met)
c.*32C>G (n.*32C>G)
c.249C>G (p.Ile83Met)
c.378C>G (p.Ile126Met)
 gnomAD v4 COSMIC
19g.13025194C>TCA505780971NFIXc.198C>T (p.Ile66=)
c.19C>T
c.201C>T (p.Ile67=)
c.225C>T (p.Ile75=)
c.210C>T (p.Ile70=)
c.60C>T (p.Ile20=)
c.177C>T (p.Ile59=)
c.*32C>T (n.*32C>T)
c.249C>T (p.Ile83=)
c.378C>T (p.Ile126=)
19g.13025195A>CCA404313727NFIXc.199A>C (p.Lys67Gln)
c.20A>C
c.202A>C (p.Lys68Gln)
c.226A>C (p.Lys76Gln)
c.211A>C (p.Lys71Gln)
c.61A>C (p.Lys21Gln)
c.178A>C (p.Lys60Gln)
c.*33A>C (n.*33A>C)
c.250A>C (p.Lys84Gln)
c.379A>C (p.Lys127Gln)
19g.13025195A>GCA404313729NFIXc.199A>G (p.Lys67Glu)
c.20A>G
c.202A>G (p.Lys68Glu)
c.226A>G (p.Lys76Glu)
c.211A>G (p.Lys71Glu)
c.61A>G (p.Lys21Glu)
c.178A>G (p.Lys60Glu)
c.*33A>G (n.*33A>G)
c.250A>G (p.Lys84Glu)
c.379A>G (p.Lys127Glu)
19g.13025195A>TCA404313731NFIXc.199A>T (p.Lys67Ter)
c.20A>T
c.202A>T (p.Lys68Ter)
c.226A>T (p.Lys76Ter)
c.211A>T (p.Lys71Ter)
c.61A>T (p.Lys21Ter)
c.178A>T (p.Lys60Ter)
c.*33A>T (n.*33A>T)
c.250A>T (p.Lys84Ter)
c.379A>T (p.Lys127Ter)
19g.13025196A=CA2323688860NFIXc.200A= (p.Lys67=)
c.21A=
c.203A= (p.Lys68=)
c.227A= (p.Lys76=)
c.212A= (p.Lys71=)
c.62A= (p.Lys21=)
c.179A= (p.Lys60=)
c.*34A= (n.*34A=)
c.251A= (p.Lys84=)
c.380A= (p.Lys127=)
19g.13025196A>CCA404313733NFIXc.200A>C (p.Lys67Thr)
c.21A>C
c.203A>C (p.Lys68Thr)
c.227A>C (p.Lys76Thr)
c.212A>C (p.Lys71Thr)
c.62A>C (p.Lys21Thr)
c.179A>C (p.Lys60Thr)
c.*34A>C (n.*34A>C)
c.251A>C (p.Lys84Thr)
c.380A>C (p.Lys127Thr)
19g.13025196A>GCA9236957NFIXc.200A>G (p.Lys67Arg)
c.21A>G
c.203A>G (p.Lys68Arg)
c.227A>G (p.Lys76Arg)
c.212A>G (p.Lys71Arg)
c.62A>G (p.Lys21Arg)
c.179A>G (p.Lys60Arg)
c.*34A>G (n.*34A>G)
c.251A>G (p.Lys84Arg)
c.380A>G (p.Lys127Arg)
 dbSNP ExAC gnomAD v2
19g.13025196A>TCA404313737NFIXc.200A>T (p.Lys67Met)
c.21A>T
c.203A>T (p.Lys68Met)
c.227A>T (p.Lys76Met)
c.212A>T (p.Lys71Met)
c.62A>T (p.Lys21Met)
c.179A>T (p.Lys60Met)
c.*34A>T (n.*34A>T)
c.251A>T (p.Lys84Met)
c.380A>T (p.Lys127Met)
19g.13025197G>ACA505780975NFIXc.201G>A (p.Lys67=)
c.22G>A
c.204G>A (p.Lys68=)
c.228G>A (p.Lys76=)
c.213G>A (p.Lys71=)
c.63G>A (p.Lys21=)
c.180G>A (p.Lys60=)
c.*35G>A (n.*35G>A)
c.252G>A (p.Lys84=)
c.381G>A (p.Lys127=)
19g.13025197G>CCA404313739NFIXc.201G>C (p.Lys67Asn)
c.22G>C
c.204G>C (p.Lys68Asn)
c.228G>C (p.Lys76Asn)
c.213G>C (p.Lys71Asn)
c.63G>C (p.Lys21Asn)
c.180G>C (p.Lys60Asn)
c.*35G>C (n.*35G>C)
c.252G>C (p.Lys84Asn)
c.381G>C (p.Lys127Asn)
19g.13025197G>TCA404313741NFIXc.201G>T (p.Lys67Asn)
c.22G>T
c.204G>T (p.Lys68Asn)
c.228G>T (p.Lys76Asn)
c.213G>T (p.Lys71Asn)
c.63G>T (p.Lys21Asn)
c.180G>T (p.Lys60Asn)
c.*35G>T (n.*35G>T)
c.252G>T (p.Lys84Asn)
c.381G>T (p.Lys127Asn)
19g.13025198C>ACA404313744NFIXc.202C>A (p.Gln68Lys)
c.23C>A
c.205C>A (p.Gln69Lys)
c.229C>A (p.Gln77Lys)
c.214C>A (p.Gln72Lys)
c.64C>A (p.Gln22Lys)
c.181C>A (p.Gln61Lys)
c.*36C>A (n.*36C>A)
c.253C>A (p.Gln85Lys)
c.382C>A (p.Gln128Lys)
19g.13025198C>GCA404313745NFIXc.202C>G (p.Gln68Glu)
c.23C>G
c.205C>G (p.Gln69Glu)
c.229C>G (p.Gln77Glu)
c.214C>G (p.Gln72Glu)
c.64C>G (p.Gln22Glu)
c.181C>G (p.Gln61Glu)
c.*36C>G (n.*36C>G)
c.253C>G (p.Gln85Glu)
c.382C>G (p.Gln128Glu)
19g.13025198C>TCA404313746NFIXc.202C>T (p.Gln68Ter)
c.23C>T
c.205C>T (p.Gln69Ter)
c.229C>T (p.Gln77Ter)
c.214C>T (p.Gln72Ter)
c.64C>T (p.Gln22Ter)
c.181C>T (p.Gln61Ter)
c.*36C>T (n.*36C>T)
c.253C>T (p.Gln85Ter)
c.382C>T (p.Gln128Ter)
19g.13025199A>CCA404313747NFIXc.203A>C (p.Gln68Pro)
c.24A>C
c.206A>C (p.Gln69Pro)
c.230A>C (p.Gln77Pro)
c.215A>C (p.Gln72Pro)
c.65A>C (p.Gln22Pro)
c.182A>C (p.Gln61Pro)
c.*37A>C (n.*37A>C)
c.254A>C (p.Gln85Pro)
c.383A>C (p.Gln128Pro)
19g.13025199A>GCA404313748NFIXc.203A>G (p.Gln68Arg)
c.24A>G
c.206A>G (p.Gln69Arg)
c.230A>G (p.Gln77Arg)
c.215A>G (p.Gln72Arg)
c.65A>G (p.Gln22Arg)
c.182A>G (p.Gln61Arg)
c.*37A>G (n.*37A>G)
c.254A>G (p.Gln85Arg)
c.383A>G (p.Gln128Arg)
 gnomAD v4
19g.13025199A>TCA404313749NFIXc.203A>T (p.Gln68Leu)
c.24A>T
c.206A>T (p.Gln69Leu)
c.230A>T (p.Gln77Leu)
c.215A>T (p.Gln72Leu)
c.65A>T (p.Gln22Leu)
c.182A>T (p.Gln61Leu)
c.*37A>T (n.*37A>T)
c.254A>T (p.Gln85Leu)
c.383A>T (p.Gln128Leu)
19g.13025200G>ACA505780979NFIXc.204G>A (p.Gln68=)
c.25G>A
c.207G>A (p.Gln69=)
c.231G>A (p.Gln77=)
c.216G>A (p.Gln72=)
c.66G>A (p.Gln22=)
c.183G>A (p.Gln61=)
c.*38G>A (n.*38G>A)
c.255G>A (p.Gln85=)
c.384G>A (p.Gln128=)
19g.13025200G>CCA404313750NFIXc.204G>C (p.Gln68His)
c.25G>C
c.207G>C (p.Gln69His)
c.231G>C (p.Gln77His)
c.216G>C (p.Gln72His)
c.66G>C (p.Gln22His)
c.183G>C (p.Gln61His)
c.*38G>C (n.*38G>C)
c.255G>C (p.Gln85His)
c.384G>C (p.Gln128His)
19g.13025200G>TCA404313751NFIXc.204G>T (p.Gln68His)
c.25G>T
c.207G>T (p.Gln69His)
c.231G>T (p.Gln77His)
c.216G>T (p.Gln72His)
c.66G>T (p.Gln22His)
c.183G>T (p.Gln61His)
c.*38G>T (n.*38G>T)
c.255G>T (p.Gln85His)
c.384G>T (p.Gln128His)
19g.13025201A>CCA404313752NFIXc.205A>C (p.Lys69Gln)
c.26A>C
c.208A>C (p.Lys70Gln)
c.232A>C (p.Lys78Gln)
c.217A>C (p.Lys73Gln)
c.67A>C (p.Lys23Gln)
c.184A>C (p.Lys62Gln)
c.*39A>C (n.*39A>C)
c.256A>C (p.Lys86Gln)
c.385A>C (p.Lys129Gln)
19g.13025201A>GCA404313753NFIXc.205A>G (p.Lys69Glu)
c.26A>G
c.208A>G (p.Lys70Glu)
c.232A>G (p.Lys78Glu)
c.217A>G (p.Lys73Glu)
c.67A>G (p.Lys23Glu)
c.184A>G (p.Lys62Glu)
c.*39A>G (n.*39A>G)
c.256A>G (p.Lys86Glu)
c.385A>G (p.Lys129Glu)
19g.13025201A>TCA404313754NFIXc.205A>T (p.Lys69Ter)
c.26A>T
c.208A>T (p.Lys70Ter)
c.232A>T (p.Lys78Ter)
c.217A>T (p.Lys73Ter)
c.67A>T (p.Lys23Ter)
c.184A>T (p.Lys62Ter)
c.*39A>T (n.*39A>T)
c.256A>T (p.Lys86Ter)
c.385A>T (p.Lys129Ter)
19g.13025202A=CA2323688861NFIXc.206A= (p.Lys69=)
c.27A=
c.209A= (p.Lys70=)
c.233A= (p.Lys78=)
c.218A= (p.Lys73=)
c.68A= (p.Lys23=)
c.185A= (p.Lys62=)
c.*40A= (n.*40A=)
c.257A= (p.Lys86=)
c.386A= (p.Lys129=)
19g.13025202A>CCA404313755NFIXc.206A>C (p.Lys69Thr)
c.27A>C
c.209A>C (p.Lys70Thr)
c.233A>C (p.Lys78Thr)
c.218A>C (p.Lys73Thr)
c.68A>C (p.Lys23Thr)
c.185A>C (p.Lys62Thr)
c.*40A>C (n.*40A>C)
c.257A>C (p.Lys86Thr)
c.386A>C (p.Lys129Thr)
 dbSNP gnomAD v3 gnomAD v4
19g.13025202A>GCA404313756NFIXc.206A>G (p.Lys69Arg)
c.27A>G
c.209A>G (p.Lys70Arg)
c.233A>G (p.Lys78Arg)
c.218A>G (p.Lys73Arg)
c.68A>G (p.Lys23Arg)
c.185A>G (p.Lys62Arg)
c.*40A>G (n.*40A>G)
c.257A>G (p.Lys86Arg)
c.386A>G (p.Lys129Arg)
19g.13025202A>TCA404313757NFIXc.206A>T (p.Lys69Met)
c.27A>T
c.209A>T (p.Lys70Met)
c.233A>T (p.Lys78Met)
c.218A>T (p.Lys73Met)
c.68A>T (p.Lys23Met)
c.185A>T (p.Lys62Met)
c.*40A>T (n.*40A>T)
c.257A>T (p.Lys86Met)
c.386A>T (p.Lys129Met)
19g.13025203G>ACA505780981NFIXc.207G>A (p.Lys69=)
c.28G>A
c.210G>A (p.Lys70=)
c.234G>A (p.Lys78=)
c.219G>A (p.Lys73=)
c.69G>A (p.Lys23=)
c.186G>A (p.Lys62=)
c.*41G>A (n.*41G>A)
c.258G>A (p.Lys86=)
c.387G>A (p.Lys129=)
19g.13025203G>CCA404313758NFIXc.207G>C (p.Lys69Asn)
c.28G>C
c.210G>C (p.Lys70Asn)
c.234G>C (p.Lys78Asn)
c.219G>C (p.Lys73Asn)
c.69G>C (p.Lys23Asn)
c.186G>C (p.Lys62Asn)
c.*41G>C (n.*41G>C)
c.258G>C (p.Lys86Asn)
c.387G>C (p.Lys129Asn)
19g.13025203G>TCA404313759NFIXc.207G>T (p.Lys69Asn)
c.28G>T
c.210G>T (p.Lys70Asn)
c.234G>T (p.Lys78Asn)
c.219G>T (p.Lys73Asn)
c.69G>T (p.Lys23Asn)
c.186G>T (p.Lys62Asn)
c.*41G>T (n.*41G>T)
c.258G>T (p.Lys86Asn)
c.387G>T (p.Lys129Asn)
19g.13025204T>ACA404313760NFIXc.208T>A (p.Trp70Arg)
c.29T>A
c.211T>A (p.Trp71Arg)
c.235T>A (p.Trp79Arg)
c.220T>A (p.Trp74Arg)
c.70T>A (p.Trp24Arg)
c.187T>A (p.Trp63Arg)
c.*42T>A (n.*42T>A)
c.259T>A (p.Trp87Arg)
c.388T>A (p.Trp130Arg)
19g.13025204T>CCA404313761NFIXc.208T>C (p.Trp70Arg)
c.29T>C
c.211T>C (p.Trp71Arg)
c.235T>C (p.Trp79Arg)
c.220T>C (p.Trp74Arg)
c.70T>C (p.Trp24Arg)
c.187T>C (p.Trp63Arg)
c.*42T>C (n.*42T>C)
c.259T>C (p.Trp87Arg)
c.388T>C (p.Trp130Arg)
19g.13025204T>GCA404313762NFIXc.208T>G (p.Trp70Gly)
c.29T>G
c.211T>G (p.Trp71Gly)
c.235T>G (p.Trp79Gly)
c.220T>G (p.Trp74Gly)
c.70T>G (p.Trp24Gly)
c.187T>G (p.Trp63Gly)
c.*42T>G (n.*42T>G)
c.259T>G (p.Trp87Gly)
c.388T>G (p.Trp130Gly)
19g.13025205G>ACA404313763NFIXc.209G>A (p.Trp70Ter)
c.30G>A
c.212G>A (p.Trp71Ter)
c.236G>A (p.Trp79Ter)
c.221G>A (p.Trp74Ter)
c.71G>A (p.Trp24Ter)
c.188G>A (p.Trp63Ter)
c.*43G>A (n.*43G>A)
c.260G>A (p.Trp87Ter)
c.389G>A (p.Trp130Ter)
19g.13025205G>CCA404313764NFIXc.209G>C (p.Trp70Ser)
c.30G>C
c.212G>C (p.Trp71Ser)
c.236G>C (p.Trp79Ser)
c.221G>C (p.Trp74Ser)
c.71G>C (p.Trp24Ser)
c.188G>C (p.Trp63Ser)
c.*43G>C (n.*43G>C)
c.260G>C (p.Trp87Ser)
c.389G>C (p.Trp130Ser)
19g.13025205G>TCA404313765NFIXc.209G>T (p.Trp70Leu)
c.30G>T
c.212G>T (p.Trp71Leu)
c.236G>T (p.Trp79Leu)
c.221G>T (p.Trp74Leu)
c.71G>T (p.Trp24Leu)
c.188G>T (p.Trp63Leu)
c.*43G>T (n.*43G>T)
c.260G>T (p.Trp87Leu)
c.389G>T (p.Trp130Leu)
19g.13025206G>ACA404313766NFIXc.210G>A (p.Trp70Ter)
c.31G>A
c.213G>A (p.Trp71Ter)
c.237G>A (p.Trp79Ter)
c.222G>A (p.Trp74Ter)
c.72G>A (p.Trp24Ter)
c.189G>A (p.Trp63Ter)
c.*44G>A (n.*44G>A)
c.261G>A (p.Trp87Ter)
c.390G>A (p.Trp130Ter)
19g.13025206G>CCA404313767NFIXc.210G>C (p.Trp70Cys)
c.31G>C
c.213G>C (p.Trp71Cys)
c.237G>C (p.Trp79Cys)
c.222G>C (p.Trp74Cys)
c.72G>C (p.Trp24Cys)
c.189G>C (p.Trp63Cys)
c.*44G>C (n.*44G>C)
c.261G>C (p.Trp87Cys)
c.390G>C (p.Trp130Cys)
19g.13025206G>TCA404313768NFIXc.210G>T (p.Trp70Cys)
c.31G>T
c.213G>T (p.Trp71Cys)
c.237G>T (p.Trp79Cys)
c.222G>T (p.Trp74Cys)
c.72G>T (p.Trp24Cys)
c.189G>T (p.Trp63Cys)
c.*44G>T (n.*44G>T)
c.261G>T (p.Trp87Cys)
c.390G>T (p.Trp130Cys)
19g.13025207G>ACA404313769NFIXc.211G>A (p.Ala71Thr)
c.32G>A
c.214G>A (p.Ala72Thr)
c.238G>A (p.Ala80Thr)
c.223G>A (p.Ala75Thr)
c.73G>A (p.Ala25Thr)
c.190G>A (p.Ala64Thr)
c.*45G>A (n.*45G>A)
c.262G>A (p.Ala88Thr)
c.391G>A (p.Ala131Thr)
19g.13025207G>CCA404313770NFIXc.211G>C (p.Ala71Pro)
c.32G>C
c.214G>C (p.Ala72Pro)
c.238G>C (p.Ala80Pro)
c.223G>C (p.Ala75Pro)
c.73G>C (p.Ala25Pro)
c.190G>C (p.Ala64Pro)
c.*45G>C (n.*45G>C)
c.262G>C (p.Ala88Pro)
c.391G>C (p.Ala131Pro)
19g.13025207G>TCA404313771NFIXc.211G>T (p.Ala71Ser)
c.32G>T
c.214G>T (p.Ala72Ser)
c.238G>T (p.Ala80Ser)
c.223G>T (p.Ala75Ser)
c.73G>T (p.Ala25Ser)
c.190G>T (p.Ala64Ser)
c.*45G>T (n.*45G>T)
c.262G>T (p.Ala88Ser)
c.391G>T (p.Ala131Ser)
19g.13025208C>ACA404313773NFIXc.212C>A (p.Ala71Glu)
c.33C>A
c.215C>A (p.Ala72Glu)
c.239C>A (p.Ala80Glu)
c.224C>A (p.Ala75Glu)
c.74C>A (p.Ala25Glu)
c.191C>A (p.Ala64Glu)
c.*46C>A (n.*46C>A)
c.263C>A (p.Ala88Glu)
c.392C>A (p.Ala131Glu)
19g.13025208C=CA2323688862NFIXc.212C= (p.Ala71=)
c.33C=
c.215C= (p.Ala72=)
c.239C= (p.Ala80=)
c.224C= (p.Ala75=)
c.74C= (p.Ala25=)
c.191C= (p.Ala64=)
c.*46C= (n.*46C=)
c.263C= (p.Ala88=)
c.392C= (p.Ala131=)
19g.13025208C>GCA404313772NFIXc.212C>G (p.Ala71Gly)
c.33C>G
c.215C>G (p.Ala72Gly)
c.239C>G (p.Ala80Gly)
c.224C>G (p.Ala75Gly)
c.74C>G (p.Ala25Gly)
c.191C>G (p.Ala64Gly)
c.*46C>G (n.*46C>G)
c.263C>G (p.Ala88Gly)
c.392C>G (p.Ala131Gly)
19g.13025208C>TCA9236958NFIXc.212C>T (p.Ala71Val)
c.33C>T
c.215C>T (p.Ala72Val)
c.239C>T (p.Ala80Val)
c.224C>T (p.Ala75Val)
c.74C>T (p.Ala25Val)
c.191C>T (p.Ala64Val)
c.*46C>T (n.*46C>T)
c.263C>T (p.Ala88Val)
c.392C>T (p.Ala131Val)
 dbSNP ExAC gnomAD v2
19g.13025209A>CCA505780985NFIXc.213A>C (p.Ala71=)
c.34A>C
c.216A>C (p.Ala72=)
c.240A>C (p.Ala80=)
c.225A>C (p.Ala75=)
c.75A>C (p.Ala25=)
c.192A>C (p.Ala64=)
c.*47A>C (n.*47A>C)
c.264A>C (p.Ala88=)
c.393A>C (p.Ala131=)
19g.13025209A>GCA505780986NFIXc.213A>G (p.Ala71=)
c.34A>G
c.216A>G (p.Ala72=)
c.240A>G (p.Ala80=)
c.225A>G (p.Ala75=)
c.75A>G (p.Ala25=)
c.192A>G (p.Ala64=)
c.*47A>G (n.*47A>G)
c.264A>G (p.Ala88=)
c.393A>G (p.Ala131=)
19g.13025209A>TCA505780987NFIXc.213A>T (p.Ala71=)
c.34A>T
c.216A>T (p.Ala72=)
c.240A>T (p.Ala80=)
c.225A>T (p.Ala75=)
c.75A>T (p.Ala25=)
c.192A>T (p.Ala64=)
c.*47A>T (n.*47A>T)
c.264A>T (p.Ala88=)
c.393A>T (p.Ala131=)
19g.13025210T>ACA404313774NFIXc.214T>A (p.Ser72Thr)
c.35T>A
c.217T>A (p.Ser73Thr)
c.241T>A (p.Ser81Thr)
c.226T>A (p.Ser76Thr)
c.76T>A (p.Ser26Thr)
c.193T>A (p.Ser65Thr)
c.*48T>A (n.*48T>A)
c.265T>A (p.Ser89Thr)
c.394T>A (p.Ser132Thr)
19g.13025210T>CCA404313776NFIXc.214T>C (p.Ser72Pro)
c.35T>C
c.217T>C (p.Ser73Pro)
c.241T>C (p.Ser81Pro)
c.226T>C (p.Ser76Pro)
c.76T>C (p.Ser26Pro)
c.193T>C (p.Ser65Pro)
c.*48T>C (n.*48T>C)
c.265T>C (p.Ser89Pro)
c.394T>C (p.Ser132Pro)
19g.13025210T>GCA404313775NFIXc.214T>G (p.Ser72Ala)
c.35T>G
c.217T>G (p.Ser73Ala)
c.241T>G (p.Ser81Ala)
c.226T>G (p.Ser76Ala)
c.76T>G (p.Ser26Ala)
c.193T>G (p.Ser65Ala)
c.*48T>G (n.*48T>G)
c.265T>G (p.Ser89Ala)
c.394T>G (p.Ser132Ala)
19g.13025210_13025211delinsTCCA2323688863NFIXc.214_215delinsTC (p.Ser72=)
c.35_36delinsTC
c.217_218delinsTC (p.Ser73=)
c.241_242delinsTC (p.Ser81=)
c.226_227delinsTC (p.Ser76=)
c.76_77delinsTC (p.Ser26=)
c.193_194delinsTC (p.Ser65=)
c.*48_*49delinsTC (n.*48_*49delinsTC)
c.265_266delinsTC (p.Ser89=)
c.394_395delinsTC (p.Ser132=)
19g.13025211C>ACA404313777NFIXc.215C>A (p.Ser72Tyr)
c.36C>A
c.218C>A (p.Ser73Tyr)
c.242C>A (p.Ser81Tyr)
c.227C>A (p.Ser76Tyr)
c.77C>A (p.Ser26Tyr)
c.194C>A (p.Ser65Tyr)
c.*49C>A (n.*49C>A)
c.266C>A (p.Ser89Tyr)
c.395C>A (p.Ser132Tyr)
19g.13025211C>GCA404313779NFIXc.215C>G (p.Ser72Cys)
c.36C>G
c.218C>G (p.Ser73Cys)
c.242C>G (p.Ser81Cys)
c.227C>G (p.Ser76Cys)
c.77C>G (p.Ser26Cys)
c.194C>G (p.Ser65Cys)
c.*49C>G (n.*49C>G)
c.266C>G (p.Ser89Cys)
c.395C>G (p.Ser132Cys)
19g.13025211C>TCA404313778NFIXc.215C>T (p.Ser72Phe)
c.36C>T
c.218C>T (p.Ser73Phe)
c.242C>T (p.Ser81Phe)
c.227C>T (p.Ser76Phe)
c.77C>T (p.Ser26Phe)
c.194C>T (p.Ser65Phe)
c.*49C>T (n.*49C>T)
c.266C>T (p.Ser89Phe)
c.395C>T (p.Ser132Phe)
19g.13025213delCA1139666302NFIXc.217del (p.Arg73GlyfsTer20)
c.38del
c.220del (p.Arg74GlyfsTer20)
c.244del (p.Arg82GlyfsTer20)
c.229del (p.Arg77GlyfsTer20)
c.79del (p.Arg27GlyfsTer20)
c.196del (p.Arg66GlyfsTer20)
c.*51del (n.*51del)
c.268del (p.Arg90GlyfsTer20)
c.397del (p.Arg133GlyfsTer20)
 ClinVar dbSNP
19g.13025212C>ACA505780992NFIXc.216C>A (p.Ser72=)
c.37C>A
c.219C>A (p.Ser73=)
c.243C>A (p.Ser81=)
c.228C>A (p.Ser76=)
c.78C>A (p.Ser26=)
c.195C>A (p.Ser65=)
c.*50C>A (n.*50C>A)
c.267C>A (p.Ser89=)
c.396C>A (p.Ser132=)
19g.13025212C>GCA505780993NFIXc.216C>G (p.Ser72=)
c.37C>G
c.219C>G (p.Ser73=)
c.243C>G (p.Ser81=)
c.228C>G (p.Ser76=)
c.78C>G (p.Ser26=)
c.195C>G (p.Ser65=)
c.*50C>G (n.*50C>G)
c.267C>G (p.Ser89=)
c.396C>G (p.Ser132=)
19g.13025212C>TCA505780994NFIXc.216C>T (p.Ser72=)
c.37C>T
c.219C>T (p.Ser73=)
c.243C>T (p.Ser81=)
c.228C>T (p.Ser76=)
c.78C>T (p.Ser26=)
c.195C>T (p.Ser65=)
c.*50C>T (n.*50C>T)
c.267C>T (p.Ser89=)
c.396C>T (p.Ser132=)
19g.13025213C>ACA9236959NFIXc.217C>A (p.Arg73=)
c.38C>A
c.220C>A (p.Arg74=)
c.244C>A (p.Arg82=)
c.229C>A (p.Arg77=)
c.79C>A (p.Arg27=)
c.196C>A (p.Arg66=)
c.*51C>A (n.*51C>A)
c.268C>A (p.Arg90=)
c.397C>A (p.Arg133=)
 dbSNP ExAC gnomAD v4
19g.13025213C=CA2323688864NFIXc.217C= (p.Arg73=)
c.38C=
c.220C= (p.Arg74=)
c.244C= (p.Arg82=)
c.229C= (p.Arg77=)
c.79C= (p.Arg27=)
c.196C= (p.Arg66=)
c.*51C= (n.*51C=)
c.268C= (p.Arg90=)
c.397C= (p.Arg133=)
19g.13025213C>GCA404313780NFIXc.217C>G (p.Arg73Gly)
c.38C>G
c.220C>G (p.Arg74Gly)
c.244C>G (p.Arg82Gly)
c.229C>G (p.Arg77Gly)
c.79C>G (p.Arg27Gly)
c.196C>G (p.Arg66Gly)
c.*51C>G (n.*51C>G)
c.268C>G (p.Arg90Gly)
c.397C>G (p.Arg133Gly)
 ClinVar dbSNP
19g.13025213C>TCA404313781NFIXc.217C>T (p.Arg73Trp)
c.38C>T
c.220C>T (p.Arg74Trp)
c.244C>T (p.Arg82Trp)
c.229C>T (p.Arg77Trp)
c.79C>T (p.Arg27Trp)
c.196C>T (p.Arg66Trp)
c.*51C>T (n.*51C>T)
c.268C>T (p.Arg90Trp)
c.397C>T (p.Arg133Trp)
19g.13025214G>ACA404313782NFIXc.218G>A (p.Arg73Gln)
c.39G>A
c.221G>A (p.Arg74Gln)
c.245G>A (p.Arg82Gln)
c.230G>A (p.Arg77Gln)
c.80G>A (p.Arg27Gln)
c.197G>A (p.Arg66Gln)
c.*52G>A (n.*52G>A)
c.269G>A (p.Arg90Gln)
c.398G>A (p.Arg133Gln)
 gnomAD v4
19g.13025214G>CCA404313783NFIXc.218G>C (p.Arg73Pro)
c.39G>C
c.221G>C (p.Arg74Pro)
c.245G>C (p.Arg82Pro)
c.230G>C (p.Arg77Pro)
c.80G>C (p.Arg27Pro)
c.197G>C (p.Arg66Pro)
c.*52G>C (n.*52G>C)
c.269G>C (p.Arg90Pro)
c.398G>C (p.Arg133Pro)
19g.13025214G>TCA404313784NFIXc.218G>T (p.Arg73Leu)
c.39G>T
c.221G>T (p.Arg74Leu)
c.245G>T (p.Arg82Leu)
c.230G>T (p.Arg77Leu)
c.80G>T (p.Arg27Leu)
c.197G>T (p.Arg66Leu)
c.*52G>T (n.*52G>T)
c.269G>T (p.Arg90Leu)
c.398G>T (p.Arg133Leu)
19g.13025215G>ACA505781000NFIXc.219G>A (p.Arg73=)
c.40G>A
c.222G>A (p.Arg74=)
c.246G>A (p.Arg82=)
c.231G>A (p.Arg77=)
c.81G>A (p.Arg27=)
c.198G>A (p.Arg66=)
c.*53G>A (n.*53G>A)
c.270G>A (p.Arg90=)
c.399G>A (p.Arg133=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.13025215G>CCA9236960NFIXc.219G>C (p.Arg73=)
c.40G>C
c.222G>C (p.Arg74=)
c.246G>C (p.Arg82=)
c.231G>C (p.Arg77=)
c.81G>C (p.Arg27=)
c.198G>C (p.Arg66=)
c.*53G>C (n.*53G>C)
c.270G>C (p.Arg90=)
c.399G>C (p.Arg133=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13025215G=CA2323688865NFIXc.219G= (p.Arg73=)
c.40G=
c.222G= (p.Arg74=)
c.246G= (p.Arg82=)
c.231G= (p.Arg77=)
c.81G= (p.Arg27=)
c.198G= (p.Arg66=)
c.*53G= (n.*53G=)
c.270G= (p.Arg90=)
c.399G= (p.Arg133=)
19g.13025215G>TCA505781001NFIXc.219G>T (p.Arg73=)
c.40G>T
c.222G>T (p.Arg74=)
c.246G>T (p.Arg82=)
c.231G>T (p.Arg77=)
c.81G>T (p.Arg27=)
c.198G>T (p.Arg66=)
c.*53G>T (n.*53G>T)
c.270G>T (p.Arg90=)
c.399G>T (p.Arg133=)
19g.13025216C>ACA404313785NFIXc.220C>A (p.Leu74Met)
c.41C>A
c.223C>A (p.Leu75Met)
c.247C>A (p.Leu83Met)
c.232C>A (p.Leu78Met)
c.82C>A (p.Leu28Met)
c.199C>A (p.Leu67Met)
c.*54C>A (n.*54C>A)
c.271C>A (p.Leu91Met)
c.400C>A (p.Leu134Met)
19g.13025216C>GCA404313786NFIXc.220C>G (p.Leu74Val)
c.41C>G
c.223C>G (p.Leu75Val)
c.247C>G (p.Leu83Val)
c.232C>G (p.Leu78Val)
c.82C>G (p.Leu28Val)
c.199C>G (p.Leu67Val)
c.*54C>G (n.*54C>G)
c.271C>G (p.Leu91Val)
c.400C>G (p.Leu134Val)
19g.13025216C>TCA505781003NFIXc.220C>T (p.Leu74=)
c.41C>T
c.223C>T (p.Leu75=)
c.247C>T (p.Leu83=)
c.232C>T (p.Leu78=)
c.82C>T (p.Leu28=)
c.199C>T (p.Leu67=)
c.*54C>T (n.*54C>T)
c.271C>T (p.Leu91=)
c.400C>T (p.Leu134=)
19g.13025217T>ACA404313790NFIXc.221T>A (p.Leu74Gln)
c.42T>A
c.224T>A (p.Leu75Gln)
c.248T>A (p.Leu83Gln)
c.233T>A (p.Leu78Gln)
c.83T>A (p.Leu28Gln)
c.200T>A (p.Leu67Gln)
c.*55T>A (n.*55T>A)
c.272T>A (p.Leu91Gln)
c.401T>A (p.Leu134Gln)
19g.13025217T>CCA404313792NFIXc.221T>C (p.Leu74Pro)
c.42T>C
c.224T>C (p.Leu75Pro)
c.248T>C (p.Leu83Pro)
c.233T>C (p.Leu78Pro)
c.83T>C (p.Leu28Pro)
c.200T>C (p.Leu67Pro)
c.*55T>C (n.*55T>C)
c.272T>C (p.Leu91Pro)
c.401T>C (p.Leu134Pro)
19g.13025217T>GCA404313795NFIXc.221T>G (p.Leu74Arg)
c.42T>G
c.224T>G (p.Leu75Arg)
c.248T>G (p.Leu83Arg)
c.233T>G (p.Leu78Arg)
c.83T>G (p.Leu28Arg)
c.200T>G (p.Leu67Arg)
c.*55T>G (n.*55T>G)
c.272T>G (p.Leu91Arg)
c.401T>G (p.Leu134Arg)
19g.13025218G>ACA505781007NFIXc.222G>A (p.Leu74=)
c.43G>A
c.225G>A (p.Leu75=)
c.249G>A (p.Leu83=)
c.234G>A (p.Leu78=)
c.84G>A (p.Leu28=)
c.201G>A (p.Leu67=)
c.*56G>A (n.*56G>A)
c.273G>A (p.Leu91=)
c.402G>A (p.Leu134=)
 gnomAD v4
19g.13025218G>CCA505781008NFIXc.222G>C (p.Leu74=)
c.43G>C
c.225G>C (p.Leu75=)
c.249G>C (p.Leu83=)
c.234G>C (p.Leu78=)
c.84G>C (p.Leu28=)
c.201G>C (p.Leu67=)
c.*56G>C (n.*56G>C)
c.273G>C (p.Leu91=)
c.402G>C (p.Leu134=)
19g.13025218G>TCA505781009NFIXc.222G>T (p.Leu74=)
c.43G>T
c.225G>T (p.Leu75=)
c.249G>T (p.Leu83=)
c.234G>T (p.Leu78=)
c.84G>T (p.Leu28=)
c.201G>T (p.Leu67=)
c.*56G>T (n.*56G>T)
c.273G>T (p.Leu91=)
c.402G>T (p.Leu134=)
19g.13025219C>ACA404313797NFIXc.223C>A (p.Leu75Met)
c.44C>A
c.226C>A (p.Leu76Met)
c.250C>A (p.Leu84Met)
c.235C>A (p.Leu79Met)
c.85C>A (p.Leu29Met)
c.202C>A (p.Leu68Met)
c.*57C>A (n.*57C>A)
c.274C>A (p.Leu92Met)
c.403C>A (p.Leu135Met)
19g.13025219C=CA2323688866NFIXc.223C= (p.Leu75=)
c.44C=
c.226C= (p.Leu76=)
c.250C= (p.Leu84=)
c.235C= (p.Leu79=)
c.85C= (p.Leu29=)
c.202C= (p.Leu68=)
c.*57C= (n.*57C=)
c.274C= (p.Leu92=)
c.403C= (p.Leu135=)
19g.13025219C>GCA404313799NFIXc.223C>G (p.Leu75Val)
c.44C>G
c.226C>G (p.Leu76Val)
c.250C>G (p.Leu84Val)
c.235C>G (p.Leu79Val)
c.85C>G (p.Leu29Val)
c.202C>G (p.Leu68Val)
c.*57C>G (n.*57C>G)
c.274C>G (p.Leu92Val)
c.403C>G (p.Leu135Val)
19g.13025219C>TCA505781013NFIXc.223C>T (p.Leu75=)
c.44C>T
c.226C>T (p.Leu76=)
c.250C>T (p.Leu84=)
c.235C>T (p.Leu79=)
c.85C>T (p.Leu29=)
c.202C>T (p.Leu68=)
c.*57C>T (n.*57C>T)
c.274C>T (p.Leu92=)
c.403C>T (p.Leu135=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13025219_13025235delCA2580096545NFIXc.223_239del (p.Leu75GlyfsTer?)
c.44_60del
c.226_242del (p.Leu76GlyfsTer?)
c.250_266del (p.Leu84GlyfsTer?)
c.235_251del (p.Leu79GlyfsTer?)
c.85_101del (p.Leu29GlyfsTer?)
c.202_218del (p.Leu68GlyfsTer?)
c.*57_*73del (n.*57_*73del)
c.274_290del (p.Leu92GlyfsTer?)
c.403_419del (p.Leu135GlyfsTer?)
 ClinVar dbSNP
19g.13025220T>ACA404313801NFIXc.224T>A (p.Leu75Gln)
c.45T>A
c.227T>A (p.Leu76Gln)
c.251T>A (p.Leu84Gln)
c.236T>A (p.Leu79Gln)
c.86T>A (p.Leu29Gln)
c.203T>A (p.Leu68Gln)
c.*58T>A (n.*58T>A)
c.275T>A (p.Leu92Gln)
c.404T>A (p.Leu135Gln)
19g.13025220T>CCA404313803NFIXc.224T>C (p.Leu75Pro)
c.45T>C
c.227T>C (p.Leu76Pro)
c.251T>C (p.Leu84Pro)
c.236T>C (p.Leu79Pro)
c.86T>C (p.Leu29Pro)
c.203T>C (p.Leu68Pro)
c.*58T>C (n.*58T>C)
c.275T>C (p.Leu92Pro)
c.404T>C (p.Leu135Pro)
19g.13025220T>GCA404313806NFIXc.224T>G (p.Leu75Arg)
c.45T>G
c.227T>G (p.Leu76Arg)
c.251T>G (p.Leu84Arg)
c.236T>G (p.Leu79Arg)
c.86T>G (p.Leu29Arg)
c.203T>G (p.Leu68Arg)
c.*58T>G (n.*58T>G)
c.275T>G (p.Leu92Arg)
c.404T>G (p.Leu135Arg)
19g.13025221G>ACA505781015NFIXc.225G>A (p.Leu75=)
c.46G>A
c.228G>A (p.Leu76=)
c.252G>A (p.Leu84=)
c.237G>A (p.Leu79=)
c.87G>A (p.Leu29=)
c.204G>A (p.Leu68=)
c.*59G>A (n.*59G>A)
c.276G>A (p.Leu92=)
c.405G>A (p.Leu135=)
 gnomAD v4
19g.13025221G>CCA505781016NFIXc.225G>C (p.Leu75=)
c.46G>C
c.228G>C (p.Leu76=)
c.252G>C (p.Leu84=)
c.237G>C (p.Leu79=)
c.87G>C (p.Leu29=)
c.204G>C (p.Leu68=)
c.*59G>C (n.*59G>C)
c.276G>C (p.Leu92=)
c.405G>C (p.Leu135=)
19g.13025221G>TCA505781017NFIXc.225G>T (p.Leu75=)
c.46G>T
c.228G>T (p.Leu76=)
c.252G>T (p.Leu84=)
c.237G>T (p.Leu79=)
c.87G>T (p.Leu29=)
c.204G>T (p.Leu68=)
c.*59G>T (n.*59G>T)
c.276G>T (p.Leu92=)
c.405G>T (p.Leu135=)
19g.13025222G>ACA404313808NFIXc.226G>A (p.Ala76Thr)
c.47G>A
c.229G>A (p.Ala77Thr)
c.253G>A (p.Ala85Thr)
c.238G>A (p.Ala80Thr)
c.88G>A (p.Ala30Thr)
c.205G>A (p.Ala69Thr)
c.*60G>A (n.*60G>A)
c.277G>A (p.Ala93Thr)
c.406G>A (p.Ala136Thr)
19g.13025222G>CCA404313809NFIXc.226G>C (p.Ala76Pro)
c.47G>C
c.229G>C (p.Ala77Pro)
c.253G>C (p.Ala85Pro)
c.238G>C (p.Ala80Pro)
c.88G>C (p.Ala30Pro)
c.205G>C (p.Ala69Pro)
c.*60G>C (n.*60G>C)
c.277G>C (p.Ala93Pro)
c.406G>C (p.Ala136Pro)
19g.13025222G>TCA404313811NFIXc.226G>T (p.Ala76Ser)
c.47G>T
c.229G>T (p.Ala77Ser)
c.253G>T (p.Ala85Ser)
c.238G>T (p.Ala80Ser)
c.88G>T (p.Ala30Ser)
c.205G>T (p.Ala69Ser)
c.*60G>T (n.*60G>T)
c.277G>T (p.Ala93Ser)
c.406G>T (p.Ala136Ser)
19g.13025223C>ACA404313814NFIXc.227C>A (p.Ala76Asp)
c.48C>A
c.230C>A (p.Ala77Asp)
c.254C>A (p.Ala85Asp)
c.239C>A (p.Ala80Asp)
c.89C>A (p.Ala30Asp)
c.206C>A (p.Ala69Asp)
c.*61C>A (n.*61C>A)
c.278C>A (p.Ala93Asp)
c.407C>A (p.Ala136Asp)
19g.13025223C=CA2323688867NFIXc.227C= (p.Ala76=)
c.48C=
c.230C= (p.Ala77=)
c.254C= (p.Ala85=)
c.239C= (p.Ala80=)
c.89C= (p.Ala30=)
c.206C= (p.Ala69=)
c.*61C= (n.*61C=)
c.278C= (p.Ala93=)
c.407C= (p.Ala136=)
19g.13025223C>GCA404313816NFIXc.227C>G (p.Ala76Gly)
c.48C>G
c.230C>G (p.Ala77Gly)
c.254C>G (p.Ala85Gly)
c.239C>G (p.Ala80Gly)
c.89C>G (p.Ala30Gly)
c.206C>G (p.Ala69Gly)
c.*61C>G (n.*61C>G)
c.278C>G (p.Ala93Gly)
c.407C>G (p.Ala136Gly)
 ClinVar dbSNP gnomAD v4
19g.13025223C>TCA404313818NFIXc.227C>T (p.Ala76Val)
c.48C>T
c.230C>T (p.Ala77Val)
c.254C>T (p.Ala85Val)
c.239C>T (p.Ala80Val)
c.89C>T (p.Ala30Val)
c.206C>T (p.Ala69Val)
c.*61C>T (n.*61C>T)
c.278C>T (p.Ala93Val)
c.407C>T (p.Ala136Val)
19g.13025224C>ACA505781022NFIXc.228C>A (p.Ala76=)
c.49C>A
c.231C>A (p.Ala77=)
c.255C>A (p.Ala85=)
c.240C>A (p.Ala80=)
c.90C>A (p.Ala30=)
c.207C>A (p.Ala69=)
c.*62C>A (n.*62C>A)
c.279C>A (p.Ala93=)
c.408C>A (p.Ala136=)
19g.13025224C=CA2323688868NFIXc.228C= (p.Ala76=)
c.49C=
c.231C= (p.Ala77=)
c.255C= (p.Ala85=)
c.240C= (p.Ala80=)
c.90C= (p.Ala30=)
c.207C= (p.Ala69=)
c.*62C= (n.*62C=)
c.279C= (p.Ala93=)
c.408C= (p.Ala136=)
19g.13025224C>GCA505781024NFIXc.228C>G (p.Ala76=)
c.49C>G
c.231C>G (p.Ala77=)
c.255C>G (p.Ala85=)
c.240C>G (p.Ala80=)
c.90C>G (p.Ala30=)
c.207C>G (p.Ala69=)
c.*62C>G (n.*62C>G)
c.279C>G (p.Ala93=)
c.408C>G (p.Ala136=)
19g.13025224C>TCA9236961NFIXc.228C>T (p.Ala76=)
c.49C>T
c.231C>T (p.Ala77=)
c.255C>T (p.Ala85=)
c.240C>T (p.Ala80=)
c.90C>T (p.Ala30=)
c.207C>T (p.Ala69=)
c.*62C>T (n.*62C>T)
c.279C>T (p.Ala93=)
c.408C>T (p.Ala136=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13025225A=CA2323688869NFIXc.229A= (p.Lys77=)
c.50A=
c.232A= (p.Lys78=)
c.256A= (p.Lys86=)
c.241A= (p.Lys81=)
c.91A= (p.Lys31=)
c.208A= (p.Lys70=)
c.*63A= (n.*63A=)
c.280A= (p.Lys94=)
c.409A= (p.Lys137=)
19g.13025225A>CCA404313825NFIXc.229A>C (p.Lys77Gln)
c.50A>C
c.232A>C (p.Lys78Gln)
c.256A>C (p.Lys86Gln)
c.241A>C (p.Lys81Gln)
c.91A>C (p.Lys31Gln)
c.208A>C (p.Lys70Gln)
c.*63A>C (n.*63A>C)
c.280A>C (p.Lys94Gln)
c.409A>C (p.Lys137Gln)
19g.13025225A>GCA404313826NFIXc.229A>G (p.Lys77Glu)
c.50A>G
c.232A>G (p.Lys78Glu)
c.256A>G (p.Lys86Glu)
c.241A>G (p.Lys81Glu)
c.91A>G (p.Lys31Glu)
c.208A>G (p.Lys70Glu)
c.*63A>G (n.*63A>G)
c.280A>G (p.Lys94Glu)
c.409A>G (p.Lys137Glu)
19g.13025225A>TCA404313822NFIXc.229A>T (p.Lys77Ter)
c.50A>T
c.232A>T (p.Lys78Ter)
c.256A>T (p.Lys86Ter)
c.241A>T (p.Lys81Ter)
c.91A>T (p.Lys31Ter)
c.208A>T (p.Lys70Ter)
c.*63A>T (n.*63A>T)
c.280A>T (p.Lys94Ter)
c.409A>T (p.Lys137Ter)
 ClinVar dbSNP
19g.13025226A>CCA404313830NFIXc.230A>C (p.Lys77Thr)
c.51A>C
c.233A>C (p.Lys78Thr)
c.257A>C (p.Lys86Thr)
c.242A>C (p.Lys81Thr)
c.92A>C (p.Lys31Thr)
c.209A>C (p.Lys70Thr)
c.*64A>C (n.*64A>C)
c.281A>C (p.Lys94Thr)
c.410A>C (p.Lys137Thr)
19g.13025226A>GCA404313832NFIXc.230A>G (p.Lys77Arg)
c.51A>G
c.233A>G (p.Lys78Arg)
c.257A>G (p.Lys86Arg)
c.242A>G (p.Lys81Arg)
c.92A>G (p.Lys31Arg)
c.209A>G (p.Lys70Arg)
c.*64A>G (n.*64A>G)
c.281A>G (p.Lys94Arg)
c.410A>G (p.Lys137Arg)
19g.13025226A>TCA404313834NFIXc.230A>T (p.Lys77Met)
c.51A>T
c.233A>T (p.Lys78Met)
c.257A>T (p.Lys86Met)
c.242A>T (p.Lys81Met)
c.92A>T (p.Lys31Met)
c.209A>T (p.Lys70Met)
c.*64A>T (n.*64A>T)
c.281A>T (p.Lys94Met)
c.410A>T (p.Lys137Met)
19g.13025227G>ACA505781030NFIXc.231G>A (p.Lys77=)
c.52G>A
c.234G>A (p.Lys78=)
c.258G>A (p.Lys86=)
c.243G>A (p.Lys81=)
c.93G>A (p.Lys31=)
c.210G>A (p.Lys70=)
c.*65G>A (n.*65G>A)
c.282G>A (p.Lys94=)
c.411G>A (p.Lys137=)
 dbSNP gnomAD v2 gnomAD v4
19g.13025227G>CCA404313835NFIXc.231G>C (p.Lys77Asn)
c.52G>C
c.234G>C (p.Lys78Asn)
c.258G>C (p.Lys86Asn)
c.243G>C (p.Lys81Asn)
c.93G>C (p.Lys31Asn)
c.210G>C (p.Lys70Asn)
c.*65G>C (n.*65G>C)
c.282G>C (p.Lys94Asn)
c.411G>C (p.Lys137Asn)
19g.13025227G=CA2323688870NFIXc.231G= (p.Lys77=)
c.52G=
c.234G= (p.Lys78=)
c.258G= (p.Lys86=)
c.243G= (p.Lys81=)
c.93G= (p.Lys31=)
c.210G= (p.Lys70=)
c.*65G= (n.*65G=)
c.282G= (p.Lys94=)
c.411G= (p.Lys137=)
19g.13025227G>TCA404313838NFIXc.231G>T (p.Lys77Asn)
c.52G>T
c.234G>T (p.Lys78Asn)
c.258G>T (p.Lys86Asn)
c.243G>T (p.Lys81Asn)
c.93G>T (p.Lys31Asn)
c.210G>T (p.Lys70Asn)
c.*65G>T (n.*65G>T)
c.282G>T (p.Lys94Asn)
c.411G>T (p.Lys137Asn)
19g.13025228C>ACA404313842NFIXc.232C>A (p.Leu78Met)
c.53C>A
c.235C>A (p.Leu79Met)
c.259C>A (p.Leu87Met)
c.244C>A (p.Leu82Met)
c.94C>A (p.Leu32Met)
c.211C>A (p.Leu71Met)
c.*66C>A (n.*66C>A)
c.283C>A (p.Leu95Met)
c.412C>A (p.Leu138Met)
19g.13025228C>GCA404313840NFIXc.232C>G (p.Leu78Val)
c.53C>G
c.235C>G (p.Leu79Val)
c.259C>G (p.Leu87Val)
c.244C>G (p.Leu82Val)
c.94C>G (p.Leu32Val)
c.211C>G (p.Leu71Val)
c.*66C>G (n.*66C>G)
c.283C>G (p.Leu95Val)
c.412C>G (p.Leu138Val)
19g.13025228C>TCA505781031NFIXc.232C>T (p.Leu78=)
c.53C>T
c.235C>T (p.Leu79=)
c.259C>T (p.Leu87=)
c.244C>T (p.Leu82=)
c.94C>T (p.Leu32=)
c.211C>T (p.Leu71=)
c.*66C>T (n.*66C>T)
c.283C>T (p.Leu95=)
c.412C>T (p.Leu138=)
 ClinVar gnomAD v4
19g.13025229T>ACA404313845NFIXc.233T>A (p.Leu78Gln)
c.54T>A
c.236T>A (p.Leu79Gln)
c.260T>A (p.Leu87Gln)
c.245T>A (p.Leu82Gln)
c.95T>A (p.Leu32Gln)
c.212T>A (p.Leu71Gln)
c.*67T>A (n.*67T>A)
c.284T>A (p.Leu95Gln)
c.413T>A (p.Leu138Gln)
19g.13025229T>CCA404313847NFIXc.233T>C (p.Leu78Pro)
c.54T>C
c.236T>C (p.Leu79Pro)
c.260T>C (p.Leu87Pro)
c.245T>C (p.Leu82Pro)
c.95T>C (p.Leu32Pro)
c.212T>C (p.Leu71Pro)
c.*67T>C (n.*67T>C)
c.284T>C (p.Leu95Pro)
c.413T>C (p.Leu138Pro)
 ClinVar
19g.13025229T>GCA404313849NFIXc.233T>G (p.Leu78Arg)
c.54T>G
c.236T>G (p.Leu79Arg)
c.260T>G (p.Leu87Arg)
c.245T>G (p.Leu82Arg)
c.95T>G (p.Leu32Arg)
c.212T>G (p.Leu71Arg)
c.*67T>G (n.*67T>G)
c.284T>G (p.Leu95Arg)
c.413T>G (p.Leu138Arg)
19g.13025230G>ACA505781035NFIXc.234G>A (p.Leu78=)
c.55G>A
c.237G>A (p.Leu79=)
c.261G>A (p.Leu87=)
c.246G>A (p.Leu82=)
c.96G>A (p.Leu32=)
c.213G>A (p.Leu71=)
c.*68G>A (n.*68G>A)
c.285G>A (p.Leu95=)
c.414G>A (p.Leu138=)
19g.13025230G>CCA505781036NFIXc.234G>C (p.Leu78=)
c.55G>C
c.237G>C (p.Leu79=)
c.261G>C (p.Leu87=)
c.246G>C (p.Leu82=)
c.96G>C (p.Leu32=)
c.213G>C (p.Leu71=)
c.*68G>C (n.*68G>C)
c.285G>C (p.Leu95=)
c.414G>C (p.Leu138=)
 dbSNP
19g.13025230G=CA2323688871NFIXc.234G= (p.Leu78=)
c.55G=
c.237G= (p.Leu79=)
c.261G= (p.Leu87=)
c.246G= (p.Leu82=)
c.96G= (p.Leu32=)
c.213G= (p.Leu71=)
c.*68G= (n.*68G=)
c.285G= (p.Leu95=)
c.414G= (p.Leu138=)
19g.13025230G>TCA505781037NFIXc.234G>T (p.Leu78=)
c.55G>T
c.237G>T (p.Leu79=)
c.261G>T (p.Leu87=)
c.246G>T (p.Leu82=)
c.96G>T (p.Leu32=)
c.213G>T (p.Leu71=)
c.*68G>T (n.*68G>T)
c.285G>T (p.Leu95=)
c.414G>T (p.Leu138=)
19g.13025231C>ACA404313852NFIXc.235C>A (p.Arg79Ser)
c.56C>A
c.238C>A (p.Arg80Ser)
c.262C>A (p.Arg88Ser)
c.247C>A (p.Arg83Ser)
c.97C>A (p.Arg33Ser)
c.214C>A (p.Arg72Ser)
c.*69C>A (n.*69C>A)
c.286C>A (p.Arg96Ser)
c.415C>A (p.Arg139Ser)
19g.13025231C>GCA404313854NFIXc.235C>G (p.Arg79Gly)
c.56C>G
c.238C>G (p.Arg80Gly)
c.262C>G (p.Arg88Gly)
c.247C>G (p.Arg83Gly)
c.97C>G (p.Arg33Gly)
c.214C>G (p.Arg72Gly)
c.*69C>G (n.*69C>G)
c.286C>G (p.Arg96Gly)
c.415C>G (p.Arg139Gly)
19g.13025231C>TCA404313856NFIXc.235C>T (p.Arg79Cys)
c.56C>T
c.238C>T (p.Arg80Cys)
c.262C>T (p.Arg88Cys)
c.247C>T (p.Arg83Cys)
c.97C>T (p.Arg33Cys)
c.214C>T (p.Arg72Cys)
c.*69C>T (n.*69C>T)
c.286C>T (p.Arg96Cys)
c.415C>T (p.Arg139Cys)
19g.13025232G>ACA9236962NFIXc.236G>A (p.Arg79His)
c.57G>A
c.239G>A (p.Arg80His)
c.263G>A (p.Arg88His)
c.248G>A (p.Arg83His)
c.98G>A (p.Arg33His)
c.215G>A (p.Arg72His)
c.*70G>A (n.*70G>A)
c.287G>A (p.Arg96His)
c.416G>A (p.Arg139His)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.13025232G>CCA404313861NFIXc.236G>C (p.Arg79Pro)
c.57G>C
c.239G>C (p.Arg80Pro)
c.263G>C (p.Arg88Pro)
c.248G>C (p.Arg83Pro)
c.98G>C (p.Arg33Pro)
c.215G>C (p.Arg72Pro)
c.*70G>C (n.*70G>C)
c.287G>C (p.Arg96Pro)
c.416G>C (p.Arg139Pro)
19g.13025232G=CA2323688872NFIXc.236G= (p.Arg79=)
c.57G=
c.239G= (p.Arg80=)
c.263G= (p.Arg88=)
c.248G= (p.Arg83=)
c.98G= (p.Arg33=)
c.215G= (p.Arg72=)
c.*70G= (n.*70G=)
c.287G= (p.Arg96=)
c.416G= (p.Arg139=)
19g.13025232G>TCA404313859NFIXc.236G>T (p.Arg79Leu)
c.57G>T
c.239G>T (p.Arg80Leu)
c.263G>T (p.Arg88Leu)
c.248G>T (p.Arg83Leu)
c.98G>T (p.Arg33Leu)
c.215G>T (p.Arg72Leu)
c.*70G>T (n.*70G>T)
c.287G>T (p.Arg96Leu)
c.416G>T (p.Arg139Leu)
 COSMIC COSMIC
19g.13025232_13025236delinsTCA2695228215NFIXc.236_240delinsT (p.Arg79LeufsTer13)
c.57_61delinsT
c.239_243delinsT (p.Arg80LeufsTer13)
c.263_267delinsT (p.Arg88LeufsTer13)
c.248_252delinsT (p.Arg83LeufsTer13)
c.98_102delinsT (p.Arg33LeufsTer13)
c.215_219delinsT (p.Arg72LeufsTer13)
c.*70_*74delinsT (n.*70_*74delinsT)
c.287_291delinsT (p.Arg96LeufsTer13)
c.416_420delinsT (p.Arg139LeufsTer13)
19g.13025233C>ACA505781047NFIXc.237C>A (p.Arg79=)
c.58C>A
c.240C>A (p.Arg80=)
c.264C>A (p.Arg88=)
c.249C>A (p.Arg83=)
c.99C>A (p.Arg33=)
c.216C>A (p.Arg72=)
c.*71C>A (n.*71C>A)
c.288C>A (p.Arg96=)
c.417C>A (p.Arg139=)
 gnomAD v4
19g.13025233C>GCA505781046NFIXc.237C>G (p.Arg79=)
c.58C>G
c.240C>G (p.Arg80=)
c.264C>G (p.Arg88=)
c.249C>G (p.Arg83=)
c.99C>G (p.Arg33=)
c.216C>G (p.Arg72=)
c.*71C>G (n.*71C>G)
c.288C>G (p.Arg96=)
c.417C>G (p.Arg139=)
19g.13025233C>TCA505781045NFIXc.237C>T (p.Arg79=)
c.58C>T
c.240C>T (p.Arg80=)
c.264C>T (p.Arg88=)
c.249C>T (p.Arg83=)
c.99C>T (p.Arg33=)
c.216C>T (p.Arg72=)
c.*71C>T (n.*71C>T)
c.288C>T (p.Arg96=)
c.417C>T (p.Arg139=)
19g.13025234A>CCA404313863NFIXc.238A>C (p.Lys80Gln)
c.59A>C
c.241A>C (p.Lys81Gln)
c.265A>C (p.Lys89Gln)
c.250A>C (p.Lys84Gln)
c.100A>C (p.Lys34Gln)
c.217A>C (p.Lys73Gln)
c.*72A>C (n.*72A>C)
c.289A>C (p.Lys97Gln)
c.418A>C (p.Lys140Gln)
19g.13025234A>GCA404313864NFIXc.238A>G (p.Lys80Glu)
c.59A>G
c.241A>G (p.Lys81Glu)
c.265A>G (p.Lys89Glu)
c.250A>G (p.Lys84Glu)
c.100A>G (p.Lys34Glu)
c.217A>G (p.Lys73Glu)
c.*72A>G (n.*72A>G)
c.289A>G (p.Lys97Glu)
c.418A>G (p.Lys140Glu)
19g.13025234A>TCA404313867NFIXc.238A>T (p.Lys80Ter)
c.59A>T
c.241A>T (p.Lys81Ter)
c.265A>T (p.Lys89Ter)
c.250A>T (p.Lys84Ter)
c.100A>T (p.Lys34Ter)
c.217A>T (p.Lys73Ter)
c.*72A>T (n.*72A>T)
c.289A>T (p.Lys97Ter)
c.418A>T (p.Lys140Ter)
19g.13025235A>CCA404313869NFIXc.239A>C (p.Lys80Thr)
c.60A>C
c.242A>C (p.Lys81Thr)
c.266A>C (p.Lys89Thr)
c.251A>C (p.Lys84Thr)
c.101A>C (p.Lys34Thr)
c.218A>C (p.Lys73Thr)
c.*73A>C (n.*73A>C)
c.290A>C (p.Lys97Thr)
c.419A>C (p.Lys140Thr)
19g.13025235A>GCA404313871NFIXc.239A>G (p.Lys80Arg)
c.60A>G
c.242A>G (p.Lys81Arg)
c.266A>G (p.Lys89Arg)
c.251A>G (p.Lys84Arg)
c.101A>G (p.Lys34Arg)
c.218A>G (p.Lys73Arg)
c.*73A>G (n.*73A>G)
c.290A>G (p.Lys97Arg)
c.419A>G (p.Lys140Arg)
19g.13025235A>TCA404313873NFIXc.239A>T (p.Lys80Met)
c.60A>T
c.242A>T (p.Lys81Met)
c.266A>T (p.Lys89Met)
c.251A>T (p.Lys84Met)
c.101A>T (p.Lys34Met)
c.218A>T (p.Lys73Met)
c.*73A>T (n.*73A>T)
c.290A>T (p.Lys97Met)
c.419A>T (p.Lys140Met)
19g.13025240_13025263delCA2573054718NFIXc.244_267del (p.Ile82_Asp89del)
c.65_88del
c.247_270del (p.Ile83_Asp90del)
c.271_294del (p.Ile91_Asp98del)
c.256_279del (p.Ile86_Asp93del)
c.106_129del (p.Ile36_Asp43del)
c.223_246del (p.Ile75_Asp82del)
c.*78_*101del (n.*78_*101del)
c.295_318del (p.Ile99_Asp106del)
c.424_447del (p.Ile142_Asp149del)
 ClinVar dbSNP
19g.13025236G>ACA505781051NFIXc.240G>A (p.Lys80=)
c.61G>A
c.243G>A (p.Lys81=)
c.267G>A (p.Lys89=)
c.252G>A (p.Lys84=)
c.102G>A (p.Lys34=)
c.219G>A (p.Lys73=)
c.*74G>A (n.*74G>A)
c.291G>A (p.Lys97=)
c.420G>A (p.Lys140=)
19g.13025236G>CCA404313875NFIXc.240G>C (p.Lys80Asn)
c.61G>C
c.243G>C (p.Lys81Asn)
c.267G>C (p.Lys89Asn)
c.252G>C (p.Lys84Asn)
c.102G>C (p.Lys34Asn)
c.219G>C (p.Lys73Asn)
c.*74G>C (n.*74G>C)
c.291G>C (p.Lys97Asn)
c.420G>C (p.Lys140Asn)
 gnomAD v3 gnomAD v4
19g.13025236G>TCA404313876NFIXc.240G>T (p.Lys80Asn)
c.61G>T
c.243G>T (p.Lys81Asn)
c.267G>T (p.Lys89Asn)
c.252G>T (p.Lys84Asn)
c.102G>T (p.Lys34Asn)
c.219G>T (p.Lys73Asn)
c.*74G>T (n.*74G>T)
c.291G>T (p.Lys97Asn)
c.420G>T (p.Lys140Asn)
19g.13025237G>ACA404313879NFIXc.241G>A (p.Asp81Asn)
c.62G>A
c.244G>A (p.Asp82Asn)
c.268G>A (p.Asp90Asn)
c.253G>A (p.Asp85Asn)
c.103G>A (p.Asp35Asn)
c.220G>A (p.Asp74Asn)
c.*75G>A (n.*75G>A)
c.292G>A (p.Asp98Asn)
c.421G>A (p.Asp141Asn)
19g.13025237G>CCA404313881NFIXc.241G>C (p.Asp81His)
c.62G>C
c.244G>C (p.Asp82His)
c.268G>C (p.Asp90His)
c.253G>C (p.Asp85His)
c.103G>C (p.Asp35His)
c.220G>C (p.Asp74His)
c.*75G>C (n.*75G>C)
c.292G>C (p.Asp98His)
c.421G>C (p.Asp141His)
19g.13025237G>TCA404313883NFIXc.241G>T (p.Asp81Tyr)
c.62G>T
c.244G>T (p.Asp82Tyr)
c.268G>T (p.Asp90Tyr)
c.253G>T (p.Asp85Tyr)
c.103G>T (p.Asp35Tyr)
c.220G>T (p.Asp74Tyr)
c.*75G>T (n.*75G>T)
c.292G>T (p.Asp98Tyr)
c.421G>T (p.Asp141Tyr)
19g.13025238A>CCA404313890NFIXc.242A>C (p.Asp81Ala)
c.63A>C
c.245A>C (p.Asp82Ala)
c.269A>C (p.Asp90Ala)
c.254A>C (p.Asp85Ala)
c.104A>C (p.Asp35Ala)
c.221A>C (p.Asp74Ala)
c.*76A>C (n.*76A>C)
c.293A>C (p.Asp98Ala)
c.422A>C (p.Asp141Ala)
19g.13025238A>GCA404313887NFIXc.242A>G (p.Asp81Gly)
c.63A>G
c.245A>G (p.Asp82Gly)
c.269A>G (p.Asp90Gly)
c.254A>G (p.Asp85Gly)
c.104A>G (p.Asp35Gly)
c.221A>G (p.Asp74Gly)
c.*76A>G (n.*76A>G)
c.293A>G (p.Asp98Gly)
c.422A>G (p.Asp141Gly)
 COSMIC COSMIC COSMIC COSMIC
19g.13025238A>TCA404313886NFIXc.242A>T (p.Asp81Val)
c.63A>T
c.245A>T (p.Asp82Val)
c.269A>T (p.Asp90Val)
c.254A>T (p.Asp85Val)
c.104A>T (p.Asp35Val)
c.221A>T (p.Asp74Val)
c.*76A>T (n.*76A>T)
c.293A>T (p.Asp98Val)
c.422A>T (p.Asp141Val)
19g.13025239C>ACA404313891NFIXc.243C>A (p.Asp81Glu)
c.64C>A
c.246C>A (p.Asp82Glu)
c.270C>A (p.Asp90Glu)
c.255C>A (p.Asp85Glu)
c.105C>A (p.Asp35Glu)
c.222C>A (p.Asp74Glu)
c.*77C>A (n.*77C>A)
c.294C>A (p.Asp98Glu)
c.423C>A (p.Asp141Glu)
19g.13025239C>GCA404313893NFIXc.243C>G (p.Asp81Glu)
c.64C>G
c.246C>G (p.Asp82Glu)
c.270C>G (p.Asp90Glu)
c.255C>G (p.Asp85Glu)
c.105C>G (p.Asp35Glu)
c.222C>G (p.Asp74Glu)
c.*77C>G (n.*77C>G)
c.294C>G (p.Asp98Glu)
c.423C>G (p.Asp141Glu)
19g.13025239C>TCA505781059NFIXc.243C>T (p.Asp81=)
c.64C>T
c.246C>T (p.Asp82=)
c.270C>T (p.Asp90=)
c.255C>T (p.Asp85=)
c.105C>T (p.Asp35=)
c.222C>T (p.Asp74=)
c.*77C>T (n.*77C>T)
c.294C>T (p.Asp98=)
c.423C>T (p.Asp141=)
19g.13025240A>CCA404313896NFIXc.244A>C (p.Ile82Leu)
c.65A>C
c.247A>C (p.Ile83Leu)
c.271A>C (p.Ile91Leu)
c.256A>C (p.Ile86Leu)
c.106A>C (p.Ile36Leu)
c.223A>C (p.Ile75Leu)
c.*78A>C (n.*78A>C)
c.295A>C (p.Ile99Leu)
c.424A>C (p.Ile142Leu)
19g.13025240A>GCA404313897NFIXc.244A>G (p.Ile82Val)
c.65A>G
c.247A>G (p.Ile83Val)
c.271A>G (p.Ile91Val)
c.256A>G (p.Ile86Val)
c.106A>G (p.Ile36Val)
c.223A>G (p.Ile75Val)
c.*78A>G (n.*78A>G)
c.295A>G (p.Ile99Val)
c.424A>G (p.Ile142Val)
 gnomAD v4
19g.13025240A>TCA404313899NFIXc.244A>T (p.Ile82Phe)
c.65A>T
c.247A>T (p.Ile83Phe)
c.271A>T (p.Ile91Phe)
c.256A>T (p.Ile86Phe)
c.106A>T (p.Ile36Phe)
c.223A>T (p.Ile75Phe)
c.*78A>T (n.*78A>T)
c.295A>T (p.Ile99Phe)
c.424A>T (p.Ile142Phe)
19g.13025241T>ACA404313902NFIXc.245T>A (p.Ile82Asn)
c.66T>A
c.248T>A (p.Ile83Asn)
c.272T>A (p.Ile91Asn)
c.257T>A (p.Ile86Asn)
c.107T>A (p.Ile36Asn)
c.224T>A (p.Ile75Asn)
c.*79T>A (n.*79T>A)
c.296T>A (p.Ile99Asn)
c.425T>A (p.Ile142Asn)
19g.13025241T>CCA404313904NFIXc.245T>C (p.Ile82Thr)
c.66T>C
c.248T>C (p.Ile83Thr)
c.272T>C (p.Ile91Thr)
c.257T>C (p.Ile86Thr)
c.107T>C (p.Ile36Thr)
c.224T>C (p.Ile75Thr)
c.*79T>C (n.*79T>C)
c.296T>C (p.Ile99Thr)
c.425T>C (p.Ile142Thr)
19g.13025241T>GCA404313906NFIXc.245T>G (p.Ile82Ser)
c.66T>G
c.248T>G (p.Ile83Ser)
c.272T>G (p.Ile91Ser)
c.257T>G (p.Ile86Ser)
c.107T>G (p.Ile36Ser)
c.224T>G (p.Ile75Ser)
c.*79T>G (n.*79T>G)
c.296T>G (p.Ile99Ser)
c.425T>G (p.Ile142Ser)
19g.13025242C>ACA505781064NFIXc.246C>A (p.Ile82=)
c.67C>A
c.249C>A (p.Ile83=)
c.273C>A (p.Ile91=)
c.258C>A (p.Ile86=)
c.108C>A (p.Ile36=)
c.225C>A (p.Ile75=)
c.*80C>A (n.*80C>A)
c.297C>A (p.Ile99=)
c.426C>A (p.Ile142=)
19g.13025242C=CA2323688873NFIXc.246C= (p.Ile82=)
c.67C=
c.249C= (p.Ile83=)
c.273C= (p.Ile91=)
c.258C= (p.Ile86=)
c.108C= (p.Ile36=)
c.225C= (p.Ile75=)
c.*80C= (n.*80C=)
c.297C= (p.Ile99=)
c.426C= (p.Ile142=)
19g.13025242C>GCA404313908NFIXc.246C>G (p.Ile82Met)
c.67C>G
c.249C>G (p.Ile83Met)
c.273C>G (p.Ile91Met)
c.258C>G (p.Ile86Met)
c.108C>G (p.Ile36Met)
c.225C>G (p.Ile75Met)
c.*80C>G (n.*80C>G)
c.297C>G (p.Ile99Met)
c.426C>G (p.Ile142Met)
19g.13025242C>TCA9236963NFIXc.246C>T (p.Ile82=)
c.67C>T
c.249C>T (p.Ile83=)
c.273C>T (p.Ile91=)
c.258C>T (p.Ile86=)
c.108C>T (p.Ile36=)
c.225C>T (p.Ile75=)
c.*80C>T (n.*80C>T)
c.297C>T (p.Ile99=)
c.426C>T (p.Ile142=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13025243dupCA2580617721NFIXc.247dup (p.Arg83ProfsTer?)
c.68dup
c.250dup (p.Arg84ProfsTer?)
c.274dup (p.Arg92ProfsTer?)
c.259dup (p.Arg87ProfsTer?)
c.109dup (p.Arg37ProfsTer?)
c.226dup (p.Arg76ProfsTer?)
c.*81dup (n.*81dup)
c.298dup (p.Arg100ProfsTer?)
c.427dup (p.Arg143ProfsTer?)
 ClinVar
19g.13025243C>ACA505781069NFIXc.247C>A (p.Arg83=)
c.68C>A
c.250C>A (p.Arg84=)
c.274C>A (p.Arg92=)
c.259C>A (p.Arg87=)
c.109C>A (p.Arg37=)
c.226C>A (p.Arg76=)
c.*81C>A (n.*81C>A)
c.298C>A (p.Arg100=)
c.427C>A (p.Arg143=)
19g.13025243C=CA2323688874NFIXc.247C= (p.Arg83=)
c.68C=
c.250C= (p.Arg84=)
c.274C= (p.Arg92=)
c.259C= (p.Arg87=)
c.109C= (p.Arg37=)
c.226C= (p.Arg76=)
c.*81C= (n.*81C=)
c.298C= (p.Arg100=)
c.427C= (p.Arg143=)
19g.13025243C>GCA9236964NFIXc.247C>G (p.Arg83Gly)
c.68C>G
c.250C>G (p.Arg84Gly)
c.274C>G (p.Arg92Gly)
c.259C>G (p.Arg87Gly)
c.109C>G (p.Arg37Gly)
c.226C>G (p.Arg76Gly)
c.*81C>G (n.*81C>G)
c.298C>G (p.Arg100Gly)
c.427C>G (p.Arg143Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.13025243C>TCA404313911NFIXc.247C>T (p.Arg83Trp)
c.68C>T
c.250C>T (p.Arg84Trp)
c.274C>T (p.Arg92Trp)
c.259C>T (p.Arg87Trp)
c.109C>T (p.Arg37Trp)
c.226C>T (p.Arg76Trp)
c.*81C>T (n.*81C>T)
c.298C>T (p.Arg100Trp)
c.427C>T (p.Arg143Trp)
19g.13025244G>ACA404313913NFIXc.248G>A (p.Arg83Gln)
c.69G>A
c.251G>A (p.Arg84Gln)
c.275G>A (p.Arg92Gln)
c.260G>A (p.Arg87Gln)
c.110G>A (p.Arg37Gln)
c.227G>A (p.Arg76Gln)
c.*82G>A (n.*82G>A)
c.299G>A (p.Arg100Gln)
c.428G>A (p.Arg143Gln)
 gnomAD v3 gnomAD v4
19g.13025244G>CCA404313915NFIXc.248G>C (p.Arg83Pro)
c.69G>C
c.251G>C (p.Arg84Pro)
c.275G>C (p.Arg92Pro)
c.260G>C (p.Arg87Pro)
c.110G>C (p.Arg37Pro)
c.227G>C (p.Arg76Pro)
c.*82G>C (n.*82G>C)
c.299G>C (p.Arg100Pro)
c.428G>C (p.Arg143Pro)
19g.13025244G>TCA404313917NFIXc.248G>T (p.Arg83Leu)
c.69G>T
c.251G>T (p.Arg84Leu)
c.275G>T (p.Arg92Leu)
c.260G>T (p.Arg87Leu)
c.110G>T (p.Arg37Leu)
c.227G>T (p.Arg76Leu)
c.*82G>T (n.*82G>T)
c.299G>T (p.Arg100Leu)
c.428G>T (p.Arg143Leu)
19g.13025245G>ACA505781072NFIXc.249G>A (p.Arg83=)
c.70G>A
c.252G>A (p.Arg84=)
c.276G>A (p.Arg92=)
c.261G>A (p.Arg87=)
c.111G>A (p.Arg37=)
c.228G>A (p.Arg76=)
c.*83G>A (n.*83G>A)
c.300G>A (p.Arg100=)
c.429G>A (p.Arg143=)
 dbSNP
19g.13025245G>CCA505781073NFIXc.249G>C (p.Arg83=)
c.70G>C
c.252G>C (p.Arg84=)
c.276G>C (p.Arg92=)
c.261G>C (p.Arg87=)
c.111G>C (p.Arg37=)
c.228G>C (p.Arg76=)
c.*83G>C (n.*83G>C)
c.300G>C (p.Arg100=)
c.429G>C (p.Arg143=)
19g.13025245G=CA2323688875NFIXc.249G= (p.Arg83=)
c.70G=
c.252G= (p.Arg84=)
c.276G= (p.Arg92=)
c.261G= (p.Arg87=)
c.111G= (p.Arg37=)
c.228G= (p.Arg76=)
c.*83G= (n.*83G=)
c.300G= (p.Arg100=)
c.429G= (p.Arg143=)
19g.13025245G>TCA9236965NFIXc.249G>T (p.Arg83=)
c.70G>T
c.252G>T (p.Arg84=)
c.276G>T (p.Arg92=)
c.261G>T (p.Arg87=)
c.111G>T (p.Arg37=)
c.228G>T (p.Arg76=)
c.*83G>T (n.*83G>T)
c.300G>T (p.Arg100=)
c.429G>T (p.Arg143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13025246C>ACA404313918NFIXc.250C>A (p.Pro84Thr)
c.71C>A
c.253C>A (p.Pro85Thr)
c.277C>A (p.Pro93Thr)
c.262C>A (p.Pro88Thr)
c.112C>A (p.Pro38Thr)
c.229C>A (p.Pro77Thr)
c.*84C>A (n.*84C>A)
c.301C>A (p.Pro101Thr)
c.430C>A (p.Pro144Thr)
19g.13025246C>GCA404313920NFIXc.250C>G (p.Pro84Ala)
c.71C>G
c.253C>G (p.Pro85Ala)
c.277C>G (p.Pro93Ala)
c.262C>G (p.Pro88Ala)
c.112C>G (p.Pro38Ala)
c.229C>G (p.Pro77Ala)
c.*84C>G (n.*84C>G)
c.301C>G (p.Pro101Ala)
c.430C>G (p.Pro144Ala)
 gnomAD v4
19g.13025246C>TCA404313921NFIXc.250C>T (p.Pro84Ser)
c.71C>T
c.253C>T (p.Pro85Ser)
c.277C>T (p.Pro93Ser)
c.262C>T (p.Pro88Ser)
c.112C>T (p.Pro38Ser)
c.229C>T (p.Pro77Ser)
c.*84C>T (n.*84C>T)
c.301C>T (p.Pro101Ser)
c.430C>T (p.Pro144Ser)
19g.13025247C>ACA404313923NFIXc.251C>A (p.Pro84His)
c.72C>A
c.254C>A (p.Pro85His)
c.278C>A (p.Pro93His)
c.263C>A (p.Pro88His)
c.113C>A (p.Pro38His)
c.230C>A (p.Pro77His)
c.*85C>A (n.*85C>A)
c.302C>A (p.Pro101His)
c.431C>A (p.Pro144His)
19g.13025247C>GCA404313925NFIXc.251C>G (p.Pro84Arg)
c.72C>G
c.254C>G (p.Pro85Arg)
c.278C>G (p.Pro93Arg)
c.263C>G (p.Pro88Arg)
c.113C>G (p.Pro38Arg)
c.230C>G (p.Pro77Arg)
c.*85C>G (n.*85C>G)
c.302C>G (p.Pro101Arg)
c.431C>G (p.Pro144Arg)
19g.13025247C>TCA404313927NFIXc.251C>T (p.Pro84Leu)
c.72C>T
c.254C>T (p.Pro85Leu)
c.278C>T (p.Pro93Leu)
c.263C>T (p.Pro88Leu)
c.113C>T (p.Pro38Leu)
c.230C>T (p.Pro77Leu)
c.*85C>T (n.*85C>T)
c.302C>T (p.Pro101Leu)
c.431C>T (p.Pro144Leu)
19g.13025248C>ACA505781082NFIXc.252C>A (p.Pro84=)
c.73C>A
c.255C>A (p.Pro85=)
c.279C>A (p.Pro93=)
c.264C>A (p.Pro88=)
c.114C>A (p.Pro38=)
c.231C>A (p.Pro77=)
c.*86C>A (n.*86C>A)
c.303C>A (p.Pro101=)
c.432C>A (p.Pro144=)
19g.13025248C=CA2323688876NFIXc.252C= (p.Pro84=)
c.73C=
c.255C= (p.Pro85=)
c.279C= (p.Pro93=)
c.264C= (p.Pro88=)
c.114C= (p.Pro38=)
c.231C= (p.Pro77=)
c.*86C= (n.*86C=)
c.303C= (p.Pro101=)
c.432C= (p.Pro144=)
19g.13025248C>GCA505781081NFIXc.252C>G (p.Pro84=)
c.73C>G
c.255C>G (p.Pro85=)
c.279C>G (p.Pro93=)
c.264C>G (p.Pro88=)
c.114C>G (p.Pro38=)
c.231C>G (p.Pro77=)
c.*86C>G (n.*86C>G)
c.303C>G (p.Pro101=)
c.432C>G (p.Pro144=)
 gnomAD v4
19g.13025248C>TCA505781080NFIXc.252C>T (p.Pro84=)
c.73C>T
c.255C>T (p.Pro85=)
c.279C>T (p.Pro93=)
c.264C>T (p.Pro88=)
c.114C>T (p.Pro38=)
c.231C>T (p.Pro77=)
c.*86C>T (n.*86C>T)
c.303C>T (p.Pro101=)
c.432C>T (p.Pro144=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
19g.13025249G>ACA404313930NFIXc.253G>A (p.Glu85Lys)
c.74G>A
c.256G>A (p.Glu86Lys)
c.280G>A (p.Glu94Lys)
c.265G>A (p.Glu89Lys)
c.115G>A (p.Glu39Lys)
c.232G>A (p.Glu78Lys)
c.*87G>A (n.*87G>A)
c.304G>A (p.Glu102Lys)
c.433G>A (p.Glu145Lys)
 COSMIC COSMIC COSMIC COSMIC
19g.13025249G>CCA404313932NFIXc.253G>C (p.Glu85Gln)
c.74G>C
c.256G>C (p.Glu86Gln)
c.280G>C (p.Glu94Gln)
c.265G>C (p.Glu89Gln)
c.115G>C (p.Glu39Gln)
c.232G>C (p.Glu78Gln)
c.*87G>C (n.*87G>C)
c.304G>C (p.Glu102Gln)
c.433G>C (p.Glu145Gln)
19g.13025249G>TCA404313933NFIXc.253G>T (p.Glu85Ter)
c.74G>T
c.256G>T (p.Glu86Ter)
c.280G>T (p.Glu94Ter)
c.265G>T (p.Glu89Ter)
c.115G>T (p.Glu39Ter)
c.232G>T (p.Glu78Ter)
c.*87G>T (n.*87G>T)
c.304G>T (p.Glu102Ter)
c.433G>T (p.Glu145Ter)
19g.13025250A>CCA404313937NFIXc.254A>C (p.Glu85Ala)
c.75A>C
c.257A>C (p.Glu86Ala)
c.281A>C (p.Glu94Ala)
c.266A>C (p.Glu89Ala)
c.116A>C (p.Glu39Ala)
c.233A>C (p.Glu78Ala)
c.*88A>C (n.*88A>C)
c.305A>C (p.Glu102Ala)
c.434A>C (p.Glu145Ala)
19g.13025250A>GCA404313939NFIXc.254A>G (p.Glu85Gly)
c.75A>G
c.257A>G (p.Glu86Gly)
c.281A>G (p.Glu94Gly)
c.266A>G (p.Glu89Gly)
c.116A>G (p.Glu39Gly)
c.233A>G (p.Glu78Gly)
c.*88A>G (n.*88A>G)
c.305A>G (p.Glu102Gly)
c.434A>G (p.Glu145Gly)
19g.13025250A>TCA404313941NFIXc.254A>T (p.Glu85Val)
c.75A>T
c.257A>T (p.Glu86Val)
c.281A>T (p.Glu94Val)
c.266A>T (p.Glu89Val)
c.116A>T (p.Glu39Val)
c.233A>T (p.Glu78Val)
c.*88A>T (n.*88A>T)
c.305A>T (p.Glu102Val)
c.434A>T (p.Glu145Val)
 COSMIC COSMIC COSMIC COSMIC
19g.13025251G>ACA305548155NFIXc.255G>A (p.Glu85=)
c.76G>A
c.258G>A (p.Glu86=)
c.282G>A (p.Glu94=)
c.267G>A (p.Glu89=)
c.117G>A (p.Glu39=)
c.234G>A (p.Glu78=)
c.*89G>A (n.*89G>A)
c.306G>A (p.Glu102=)
c.435G>A (p.Glu145=)
 dbSNP gnomAD v4
19g.13025251G>CCA404313947NFIXc.255G>C (p.Glu85Asp)
c.76G>C
c.258G>C (p.Glu86Asp)
c.282G>C (p.Glu94Asp)
c.267G>C (p.Glu89Asp)
c.117G>C (p.Glu39Asp)
c.234G>C (p.Glu78Asp)
c.*89G>C (n.*89G>C)
c.306G>C (p.Glu102Asp)
c.435G>C (p.Glu145Asp)
19g.13025251G=CA2323688877NFIXc.255G= (p.Glu85=)
c.76G=
c.258G= (p.Glu86=)
c.282G= (p.Glu94=)
c.267G= (p.Glu89=)
c.117G= (p.Glu39=)
c.234G= (p.Glu78=)
c.*89G= (n.*89G=)
c.306G= (p.Glu102=)
c.435G= (p.Glu145=)
19g.13025251G>TCA404313944NFIXc.255G>T (p.Glu85Asp)
c.76G>T
c.258G>T (p.Glu86Asp)
c.282G>T (p.Glu94Asp)
c.267G>T (p.Glu89Asp)
c.117G>T (p.Glu39Asp)
c.234G>T (p.Glu78Asp)
c.*89G>T (n.*89G>T)
c.306G>T (p.Glu102Asp)
c.435G>T (p.Glu145Asp)
19g.13025252T>ACA404313948NFIXc.256T>A (p.Phe86Ile)
c.77T>A
c.259T>A (p.Phe87Ile)
c.283T>A (p.Phe95Ile)
c.268T>A (p.Phe90Ile)
c.118T>A (p.Phe40Ile)
c.235T>A (p.Phe79Ile)
c.*90T>A (n.*90T>A)
c.307T>A (p.Phe103Ile)
c.436T>A (p.Phe146Ile)
19g.13025252T>CCA404313950NFIXc.256T>C (p.Phe86Leu)
c.77T>C
c.259T>C (p.Phe87Leu)
c.283T>C (p.Phe95Leu)
c.268T>C (p.Phe90Leu)
c.118T>C (p.Phe40Leu)
c.235T>C (p.Phe79Leu)
c.*90T>C (n.*90T>C)
c.307T>C (p.Phe103Leu)
c.436T>C (p.Phe146Leu)
19g.13025252T>GCA404313952NFIXc.256T>G (p.Phe86Val)
c.77T>G
c.259T>G (p.Phe87Val)
c.283T>G (p.Phe95Val)
c.268T>G (p.Phe90Val)
c.118T>G (p.Phe40Val)
c.235T>G (p.Phe79Val)
c.*90T>G (n.*90T>G)
c.307T>G (p.Phe103Val)
c.436T>G (p.Phe146Val)
19g.13025253T>ACA404313954NFIXc.257T>A (p.Phe86Tyr)
c.78T>A
c.260T>A (p.Phe87Tyr)
c.284T>A (p.Phe95Tyr)
c.269T>A (p.Phe90Tyr)
c.119T>A (p.Phe40Tyr)
c.236T>A (p.Phe79Tyr)
c.*91T>A (n.*91T>A)
c.308T>A (p.Phe103Tyr)
c.437T>A (p.Phe146Tyr)
 dbSNP gnomAD v4
19g.13025253T>CCA404313956NFIXc.257T>C (p.Phe86Ser)
c.78T>C
c.260T>C (p.Phe87Ser)
c.284T>C (p.Phe95Ser)
c.269T>C (p.Phe90Ser)
c.119T>C (p.Phe40Ser)
c.236T>C (p.Phe79Ser)
c.*91T>C (n.*91T>C)
c.308T>C (p.Phe103Ser)
c.437T>C (p.Phe146Ser)
19g.13025253T>GCA404313957NFIXc.257T>G (p.Phe86Cys)
c.78T>G
c.260T>G (p.Phe87Cys)
c.284T>G (p.Phe95Cys)
c.269T>G (p.Phe90Cys)
c.119T>G (p.Phe40Cys)
c.236T>G (p.Phe79Cys)
c.*91T>G (n.*91T>G)
c.308T>G (p.Phe103Cys)
c.437T>G (p.Phe146Cys)
19g.13025253T=CA2323688878NFIXc.257T= (p.Phe86=)
c.78T=
c.260T= (p.Phe87=)
c.284T= (p.Phe95=)
c.269T= (p.Phe90=)
c.119T= (p.Phe40=)
c.236T= (p.Phe79=)
c.*91T= (n.*91T=)
c.308T= (p.Phe103=)
c.437T= (p.Phe146=)
19g.13025254C>ACA404313960NFIXc.258C>A (p.Phe86Leu)
c.79C>A
c.261C>A (p.Phe87Leu)
c.285C>A (p.Phe95Leu)
c.270C>A (p.Phe90Leu)
c.120C>A (p.Phe40Leu)
c.237C>A (p.Phe79Leu)
c.*92C>A (n.*92C>A)
c.309C>A (p.Phe103Leu)
c.438C>A (p.Phe146Leu)
19g.13025254C>GCA404313962NFIXc.258C>G (p.Phe86Leu)
c.79C>G
c.261C>G (p.Phe87Leu)
c.285C>G (p.Phe95Leu)
c.270C>G (p.Phe90Leu)
c.120C>G (p.Phe40Leu)
c.237C>G (p.Phe79Leu)
c.*92C>G (n.*92C>G)
c.309C>G (p.Phe103Leu)
c.438C>G (p.Phe146Leu)
19g.13025254C>TCA505781087NFIXc.258C>T (p.Phe86=)
c.79C>T
c.261C>T (p.Phe87=)
c.285C>T (p.Phe95=)
c.270C>T (p.Phe90=)
c.120C>T (p.Phe40=)
c.237C>T (p.Phe79=)
c.*92C>T (n.*92C>T)
c.309C>T (p.Phe103=)
c.438C>T (p.Phe146=)
 gnomAD v4
19g.13025255C>ACA404313966NFIXc.259C>A (p.Arg87Ser)
c.80C>A
c.262C>A (p.Arg88Ser)
c.286C>A (p.Arg96Ser)
c.271C>A (p.Arg91Ser)
c.121C>A (p.Arg41Ser)
c.238C>A (p.Arg80Ser)
c.*93C>A (n.*93C>A)
c.310C>A (p.Arg104Ser)
c.439C>A (p.Arg147Ser)
19g.13025255C>GCA404313967NFIXc.259C>G (p.Arg87Gly)
c.80C>G
c.262C>G (p.Arg88Gly)
c.286C>G (p.Arg96Gly)
c.271C>G (p.Arg91Gly)
c.121C>G (p.Arg41Gly)
c.238C>G (p.Arg80Gly)
c.*93C>G (n.*93C>G)
c.310C>G (p.Arg104Gly)
c.439C>G (p.Arg147Gly)
19g.13025255C>TCA404313970NFIXc.259C>T (p.Arg87Cys)
c.80C>T
c.262C>T (p.Arg88Cys)
c.286C>T (p.Arg96Cys)
c.271C>T (p.Arg91Cys)
c.121C>T (p.Arg41Cys)
c.238C>T (p.Arg80Cys)
c.*93C>T (n.*93C>T)
c.310C>T (p.Arg104Cys)
c.439C>T (p.Arg147Cys)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
19g.13025256G>ACA404313973NFIXc.260G>A (p.Arg87His)
c.81G>A
c.263G>A (p.Arg88His)
c.287G>A (p.Arg96His)
c.272G>A (p.Arg91His)
c.122G>A (p.Arg41His)
c.239G>A (p.Arg80His)
c.*94G>A (n.*94G>A)
c.311G>A (p.Arg104His)
c.440G>A (p.Arg147His)
19g.13025256G>CCA404313975NFIXc.260G>C (p.Arg87Pro)
c.81G>C
c.263G>C (p.Arg88Pro)
c.287G>C (p.Arg96Pro)
c.272G>C (p.Arg91Pro)
c.122G>C (p.Arg41Pro)
c.239G>C (p.Arg80Pro)
c.*94G>C (n.*94G>C)
c.311G>C (p.Arg104Pro)
c.440G>C (p.Arg147Pro)
19g.13025256G>TCA404313976NFIXc.260G>T (p.Arg87Leu)
c.81G>T
c.263G>T (p.Arg88Leu)
c.287G>T (p.Arg96Leu)
c.272G>T (p.Arg91Leu)
c.122G>T (p.Arg41Leu)
c.239G>T (p.Arg80Leu)
c.*94G>T (n.*94G>T)
c.311G>T (p.Arg104Leu)
c.440G>T (p.Arg147Leu)
19g.13025257C>ACA505781090NFIXc.261C>A (p.Arg87=)
c.82C>A
c.264C>A (p.Arg88=)
c.288C>A (p.Arg96=)
c.273C>A (p.Arg91=)
c.123C>A (p.Arg41=)
c.240C>A (p.Arg80=)
c.*95C>A (n.*95C>A)
c.312C>A (p.Arg104=)
c.441C>A (p.Arg147=)
19g.13025257C=CA2323688879NFIXc.261C= (p.Arg87=)
c.82C=
c.264C= (p.Arg88=)
c.288C= (p.Arg96=)
c.273C= (p.Arg91=)
c.123C= (p.Arg41=)
c.240C= (p.Arg80=)
c.*95C= (n.*95C=)
c.312C= (p.Arg104=)
c.441C= (p.Arg147=)
19g.13025257C>GCA505781091NFIXc.261C>G (p.Arg87=)
c.82C>G
c.264C>G (p.Arg88=)
c.288C>G (p.Arg96=)
c.273C>G (p.Arg91=)
c.123C>G (p.Arg41=)
c.240C>G (p.Arg80=)
c.*95C>G (n.*95C>G)
c.312C>G (p.Arg104=)
c.441C>G (p.Arg147=)
19g.13025257C>TCA9236966NFIXc.261C>T (p.Arg87=)
c.82C>T
c.264C>T (p.Arg88=)
c.288C>T (p.Arg96=)
c.273C>T (p.Arg91=)
c.123C>T (p.Arg41=)
c.240C>T (p.Arg80=)
c.*95C>T (n.*95C>T)
c.312C>T (p.Arg104=)
c.441C>T (p.Arg147=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.13025258G>ACA9236967NFIXc.262G>A (p.Glu88Lys)
c.83G>A
c.265G>A (p.Glu89Lys)
c.289G>A (p.Glu97Lys)
c.274G>A (p.Glu92Lys)
c.124G>A (p.Glu42Lys)
c.241G>A (p.Glu81Lys)
c.*96G>A (n.*96G>A)
c.313G>A (p.Glu105Lys)
c.442G>A (p.Glu148Lys)
 dbSNP ExAC gnomAD v2
19g.13025258G>CCA404313982NFIXc.262G>C (p.Glu88Gln)
c.83G>C
c.265G>C (p.Glu89Gln)
c.289G>C (p.Glu97Gln)
c.274G>C (p.Glu92Gln)
c.124G>C (p.Glu42Gln)
c.241G>C (p.Glu81Gln)
c.*96G>C (n.*96G>C)
c.313G>C (p.Glu105Gln)
c.442G>C (p.Glu148Gln)
19g.13025258G=CA2323688880NFIXc.262G= (p.Glu88=)
c.83G=
c.265G= (p.Glu89=)
c.289G= (p.Glu97=)
c.274G= (p.Glu92=)
c.124G= (p.Glu42=)
c.241G= (p.Glu81=)
c.*96G= (n.*96G=)
c.313G= (p.Glu105=)
c.442G= (p.Glu148=)
19g.13025258G>TCA404313984NFIXc.262G>T (p.Glu88Ter)
c.83G>T
c.265G>T (p.Glu89Ter)
c.289G>T (p.Glu97Ter)
c.274G>T (p.Glu92Ter)
c.124G>T (p.Glu42Ter)
c.241G>T (p.Glu81Ter)
c.*96G>T (n.*96G>T)
c.313G>T (p.Glu105Ter)
c.442G>T (p.Glu148Ter)
19g.13025259A>CCA404313987NFIXc.263A>C (p.Glu88Ala)
c.84A>C
c.266A>C (p.Glu89Ala)
c.290A>C (p.Glu97Ala)
c.275A>C (p.Glu92Ala)
c.125A>C (p.Glu42Ala)
c.242A>C (p.Glu81Ala)
c.*97A>C (n.*97A>C)
c.314A>C (p.Glu105Ala)
c.443A>C (p.Glu148Ala)
19g.13025259A>GCA404313989NFIXc.263A>G (p.Glu88Gly)
c.84A>G
c.266A>G (p.Glu89Gly)
c.290A>G (p.Glu97Gly)
c.275A>G (p.Glu92Gly)
c.125A>G (p.Glu42Gly)
c.242A>G (p.Glu81Gly)
c.*97A>G (n.*97A>G)
c.314A>G (p.Glu105Gly)
c.443A>G (p.Glu148Gly)
19g.13025259A>TCA404313991NFIXc.263A>T (p.Glu88Val)
c.84A>T
c.266A>T (p.Glu89Val)
c.290A>T (p.Glu97Val)
c.275A>T (p.Glu92Val)
c.125A>T (p.Glu42Val)
c.242A>T (p.Glu81Val)
c.*97A>T (n.*97A>T)
c.314A>T (p.Glu105Val)
c.443A>T (p.Glu148Val)
19g.13025259dupCA2695228216NFIXc.263dup (p.Asp89GlyfsTer29)
c.84dup
c.266dup (p.Asp90GlyfsTer29)
c.290dup (p.Asp98GlyfsTer29)
c.275dup (p.Asp93GlyfsTer29)
c.125dup (p.Asp43GlyfsTer29)
c.242dup (p.Asp82GlyfsTer29)
c.*97dup (n.*97dup)
c.314dup (p.Asp106GlyfsTer29)
c.443dup (p.Asp149GlyfsTer29)
19g.13025259_13025261delinsAGGCA2323688881NFIXc.263_265delinsAGG (p.Glu88=)
c.84_86delinsAGG
c.266_268delinsAGG (p.Glu89=)
c.290_292delinsAGG (p.Glu97=)
c.275_277delinsAGG (p.Glu92=)
c.125_127delinsAGG (p.Glu42=)
c.242_244delinsAGG (p.Glu81=)
c.*97_*99delinsAGG (n.*97_*99delinsAGG)
c.314_316delinsAGG (p.Glu105=)
c.443_445delinsAGG (p.Glu148=)
19g.13025260G>ACA505781095NFIXc.264G>A (p.Glu88=)
c.85G>A
c.267G>A (p.Glu89=)
c.291G>A (p.Glu97=)
c.276G>A (p.Glu92=)
c.126G>A (p.Glu42=)
c.243G>A (p.Glu81=)
c.*98G>A (n.*98G>A)
c.315G>A (p.Glu105=)
c.444G>A (p.Glu148=)
19g.13025260G>CCA404313994NFIXc.264G>C (p.Glu88Asp)
c.85G>C
c.267G>C (p.Glu89Asp)
c.291G>C (p.Glu97Asp)
c.276G>C (p.Glu92Asp)
c.126G>C (p.Glu42Asp)
c.243G>C (p.Glu81Asp)
c.*98G>C (n.*98G>C)
c.315G>C (p.Glu105Asp)
c.444G>C (p.Glu148Asp)
19g.13025260G>TCA404313996NFIXc.264G>T (p.Glu88Asp)
c.85G>T
c.267G>T (p.Glu89Asp)
c.291G>T (p.Glu97Asp)
c.276G>T (p.Glu92Asp)
c.126G>T (p.Glu42Asp)
c.243G>T (p.Glu81Asp)
c.*98G>T (n.*98G>T)
c.315G>T (p.Glu105Asp)
c.444G>T (p.Glu148Asp)
19g.13025260_13025261delinsCCA16620768NFIXc.264_265delinsC (p.Glu88AspfsTer5)
c.85_86delinsC
c.267_268delinsC (p.Glu89AspfsTer5)
c.291_292delinsC (p.Glu97AspfsTer5)
c.276_277delinsC (p.Glu92AspfsTer5)
c.126_127delinsC (p.Glu42AspfsTer5)
c.243_244delinsC (p.Glu81AspfsTer5)
c.*98_*99delinsC (n.*98_*99delinsC)
c.315_316delinsC (p.Glu105AspfsTer5)
c.444_445delinsC (p.Glu148AspfsTer5)
 ClinVar dbSNP
19g.13025261delCA2739291182NFIXc.265del (p.Asp89ThrfsTer4)
c.86del
c.268del (p.Asp90ThrfsTer4)
c.292del (p.Asp98ThrfsTer4)
c.277del (p.Asp93ThrfsTer4)
c.127del (p.Asp43ThrfsTer4)
c.244del (p.Asp82ThrfsTer4)
c.*99del (n.*99del)
c.316del (p.Asp106ThrfsTer4)
c.445del (p.Asp149ThrfsTer4)
19g.13025261G>ACA404313999NFIXc.265G>A (p.Asp89Asn)
c.86G>A
c.268G>A (p.Asp90Asn)
c.292G>A (p.Asp98Asn)
c.277G>A (p.Asp93Asn)
c.127G>A (p.Asp43Asn)
c.244G>A (p.Asp82Asn)
c.*99G>A (n.*99G>A)
c.316G>A (p.Asp106Asn)
c.445G>A (p.Asp149Asn)
19g.13025261G>CCA404314001NFIXc.265G>C (p.Asp89His)
c.86G>C
c.268G>C (p.Asp90His)
c.292G>C (p.Asp98His)
c.277G>C (p.Asp93His)
c.127G>C (p.Asp43His)
c.244G>C (p.Asp82His)
c.*99G>C (n.*99G>C)
c.316G>C (p.Asp106His)
c.445G>C (p.Asp149His)
19g.13025261G>TCA404314003NFIXc.265G>T (p.Asp89Tyr)
c.86G>T
c.268G>T (p.Asp90Tyr)
c.292G>T (p.Asp98Tyr)
c.277G>T (p.Asp93Tyr)
c.127G>T (p.Asp43Tyr)
c.244G>T (p.Asp82Tyr)
c.*99G>T (n.*99G>T)
c.316G>T (p.Asp106Tyr)
c.445G>T (p.Asp149Tyr)
19g.13025262A>CCA404314004NFIXc.266A>C (p.Asp89Ala)
c.87A>C
c.269A>C (p.Asp90Ala)
c.293A>C (p.Asp98Ala)
c.278A>C (p.Asp93Ala)
c.128A>C (p.Asp43Ala)
c.245A>C (p.Asp82Ala)
c.*100A>C (n.*100A>C)
c.317A>C (p.Asp106Ala)
c.446A>C (p.Asp149Ala)
19g.13025262A>GCA404314005NFIXc.266A>G (p.Asp89Gly)
c.87A>G
c.269A>G (p.Asp90Gly)
c.293A>G (p.Asp98Gly)
c.278A>G (p.Asp93Gly)
c.128A>G (p.Asp43Gly)
c.245A>G (p.Asp82Gly)
c.*100A>G (n.*100A>G)
c.317A>G (p.Asp106Gly)
c.446A>G (p.Asp149Gly)
19g.13025262A>TCA404314007NFIXc.266A>T (p.Asp89Val)
c.87A>T
c.269A>T (p.Asp90Val)
c.293A>T (p.Asp98Val)
c.278A>T (p.Asp93Val)
c.128A>T (p.Asp43Val)
c.245A>T (p.Asp82Val)
c.*100A>T (n.*100A>T)
c.317A>T (p.Asp106Val)
c.446A>T (p.Asp149Val)
19g.13025263C>ACA404314011NFIXc.267C>A (p.Asp89Glu)
c.88C>A
c.270C>A (p.Asp90Glu)
c.294C>A (p.Asp98Glu)
c.279C>A (p.Asp93Glu)
c.129C>A (p.Asp43Glu)
c.246C>A (p.Asp82Glu)
c.*101C>A (n.*101C>A)
c.318C>A (p.Asp106Glu)
c.447C>A (p.Asp149Glu)
19g.13025263C>GCA404314009NFIXc.267C>G (p.Asp89Glu)
c.88C>G
c.270C>G (p.Asp90Glu)
c.294C>G (p.Asp98Glu)
c.279C>G (p.Asp93Glu)
c.129C>G (p.Asp43Glu)
c.246C>G (p.Asp82Glu)
c.*101C>G (n.*101C>G)
c.318C>G (p.Asp106Glu)
c.447C>G (p.Asp149Glu)
19g.13025263C>TCA505781097NFIXc.267C>T (p.Asp89=)
c.88C>T
c.270C>T (p.Asp90=)
c.294C>T (p.Asp98=)
c.279C>T (p.Asp93=)
c.129C>T (p.Asp43=)
c.246C>T (p.Asp82=)
c.*101C>T (n.*101C>T)
c.318C>T (p.Asp106=)
c.447C>T (p.Asp149=)
19g.13025264T>ACA404314013NFIXc.268T>A (p.Phe90Ile)
c.89T>A
c.271T>A (p.Phe91Ile)
c.295T>A (p.Phe99Ile)
c.280T>A (p.Phe94Ile)
c.130T>A (p.Phe44Ile)
c.247T>A (p.Phe83Ile)
c.*102T>A (n.*102T>A)
c.319T>A (p.Phe107Ile)
c.448T>A (p.Phe150Ile)
19g.13025264T>CCA404314016NFIXc.268T>C (p.Phe90Leu)
c.89T>C
c.271T>C (p.Phe91Leu)
c.295T>C (p.Phe99Leu)
c.280T>C (p.Phe94Leu)
c.130T>C (p.Phe44Leu)
c.247T>C (p.Phe83Leu)
c.*102T>C (n.*102T>C)
c.319T>C (p.Phe107Leu)
c.448T>C (p.Phe150Leu)
19g.13025264T>GCA404314015NFIXc.268T>G (p.Phe90Val)
c.89T>G
c.271T>G (p.Phe91Val)
c.295T>G (p.Phe99Val)
c.280T>G (p.Phe94Val)
c.130T>G (p.Phe44Val)
c.247T>G (p.Phe83Val)
c.*102T>G (n.*102T>G)
c.319T>G (p.Phe107Val)
c.448T>G (p.Phe150Val)
19g.13025265T>ACA404314020NFIXc.269T>A (p.Phe90Tyr)
c.90T>A
c.272T>A (p.Phe91Tyr)
c.296T>A (p.Phe99Tyr)
c.281T>A (p.Phe94Tyr)
c.131T>A (p.Phe44Tyr)
c.248T>A (p.Phe83Tyr)
c.*103T>A (n.*103T>A)
c.320T>A (p.Phe107Tyr)
c.449T>A (p.Phe150Tyr)
19g.13025265T>CCA404314024NFIXc.269T>C (p.Phe90Ser)
c.90T>C
c.272T>C (p.Phe91Ser)
c.296T>C (p.Phe99Ser)
c.281T>C (p.Phe94Ser)
c.131T>C (p.Phe44Ser)
c.248T>C (p.Phe83Ser)
c.*103T>C (n.*103T>C)
c.320T>C (p.Phe107Ser)
c.449T>C (p.Phe150Ser)
19g.13025265T>GCA404314022NFIXc.269T>G (p.Phe90Cys)
c.90T>G
c.272T>G (p.Phe91Cys)
c.296T>G (p.Phe99Cys)
c.281T>G (p.Phe94Cys)
c.131T>G (p.Phe44Cys)
c.248T>G (p.Phe83Cys)
c.*103T>G (n.*103T>G)
c.320T>G (p.Phe107Cys)
c.449T>G (p.Phe150Cys)
19g.13025266C>ACA404314026NFIXc.270C>A (p.Phe90Leu)
c.91C>A
c.273C>A (p.Phe91Leu)
c.297C>A (p.Phe99Leu)
c.282C>A (p.Phe94Leu)
c.132C>A (p.Phe44Leu)
c.249C>A (p.Phe83Leu)
c.*104C>A (n.*104C>A)
c.321C>A (p.Phe107Leu)
c.450C>A (p.Phe150Leu)
19g.13025266C>GCA404314028NFIXc.270C>G (p.Phe90Leu)
c.91C>G
c.273C>G (p.Phe91Leu)
c.297C>G (p.Phe99Leu)
c.282C>G (p.Phe94Leu)
c.132C>G (p.Phe44Leu)
c.249C>G (p.Phe83Leu)
c.*104C>G (n.*104C>G)
c.321C>G (p.Phe107Leu)
c.450C>G (p.Phe150Leu)
19g.13025266C>TCA505781101NFIXc.270C>T (p.Phe90=)
c.91C>T
c.273C>T (p.Phe91=)
c.297C>T (p.Phe99=)
c.282C>T (p.Phe94=)
c.132C>T (p.Phe44=)
c.249C>T (p.Phe83=)
c.*104C>T (n.*104C>T)
c.321C>T (p.Phe107=)
c.450C>T (p.Phe150=)
 COSMIC COSMIC COSMIC COSMIC
19g.13025268_13025281delCA2740091907NFIXc.272_285del (p.Val91GlyfsTer22)
c.93_106del
c.275_288del (p.Val92GlyfsTer22)
c.299_312del (p.Val100GlyfsTer22)
c.284_297del (p.Val95GlyfsTer22)
c.134_147del (p.Val45GlyfsTer22)
c.251_264del (p.Val84GlyfsTer22)
c.*106_*119del (n.*106_*119del)
c.323_336del (p.Val108GlyfsTer22)
c.452_465del (p.Val151GlyfsTer22)
 ClinVar

Number of alleles fetched