Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.13025171C>A | CA404313608 | NFIX | c.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) | |
19 | g.13025171C= | CA2323688852 | NFIX | c.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=) | |
19 | g.13025171C>G | CA404313611 | NFIX | c.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) | |
19 | g.13025171C>T | CA505780921 | NFIX | c.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 |
19 | g.13025171_13025172del | CA2695228213 | NFIX | c.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?) | |
19 | g.13025172del | CA2573054717 | NFIX | c.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 |
19 | g.13025172T>A | CA404313614 | NFIX | c.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) | |
19 | g.13025172T>C | CA130005 | NFIX | c.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 |
19 | g.13025172T>G | CA404313620 | NFIX | c.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) | |
19 | g.13025172T= | CA2323688853 | NFIX | c.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=) | |
19 | g.13025172dup | CA915952539 | NFIX | c.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 |
19 | g.13025173G>A | CA505780923 | NFIX | c.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=) | |
19 | g.13025173G>C | CA505780924 | NFIX | c.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=) | |
19 | g.13025173G>T | CA505780925 | NFIX | c.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=) | |
19 | g.13025174C>A | CA404313622 | NFIX | c.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) | |
19 | g.13025174C= | CA2323688854 | NFIX | c.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=) | |
19 | g.13025174C>G | CA404313626 | NFIX | c.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) | |
19 | g.13025174C>T | CA505780928 | NFIX | c.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 |
19 | g.13025175T>A | CA404313628 | NFIX | c.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) | |
19 | g.13025175T>C | CA404313630 | NFIX | c.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) | |
19 | g.13025175T>G | CA404313632 | NFIX | c.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) | |
19 | g.13025176G>A | CA9236956 | NFIX | c.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 |
19 | g.13025176G>C | CA505780932 | NFIX | c.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=) | |
19 | g.13025176G= | CA2323688855 | NFIX | c.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=) | |
19 | g.13025176G>T | CA505780931 | NFIX | c.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=) | |
19 | g.13025177G>A | CA404313635 | NFIX | c.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) | |
19 | g.13025177G>C | CA404313637 | NFIX | c.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) | |
19 | g.13025177G>T | CA404313639 | NFIX | c.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 |
19 | g.13025178G>A | CA404313645 | NFIX | c.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) | |
19 | g.13025178G>C | CA404313642 | NFIX | c.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) | |
19 | g.13025178G>T | CA404313644 | NFIX | c.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) | |
19 | g.13025179C>A | CA505780937 | NFIX | c.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=) | |
19 | g.13025179C= | CA2323688856 | NFIX | c.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=) | |
19 | g.13025179C>G | CA16608047 | NFIX | c.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 |
19 | g.13025179C>T | CA505780938 | NFIX | c.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 |
19 | g.13025180G>A | CA404313648 | NFIX | c.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 |
19 | g.13025180G>C | CA404313650 | NFIX | c.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) | |
19 | g.13025180G= | CA2323688857 | NFIX | c.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=) | |
19 | g.13025180G>T | CA404313651 | NFIX | c.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 |
19 | g.13025181A>C | CA404313653 | NFIX | c.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) | |
19 | g.13025181A>G | CA404313655 | NFIX | c.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) | |
19 | g.13025181A>T | CA404313657 | NFIX | c.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) | |
19 | g.13025182G>A | CA505780943 | NFIX | c.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=) | |
19 | g.13025182G>C | CA404313659 | NFIX | c.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) | |
19 | g.13025182G>T | CA404313661 | NFIX | c.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) | |
19 | g.13025183A>C | CA404313665 | NFIX | c.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) | |
19 | g.13025183A>G | CA404313669 | NFIX | c.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) | |
19 | g.13025183A>T | CA404313671 | NFIX | c.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) | |
19 | g.13025184del | CA2695228214 | NFIX | c.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) | |
19 | g.13025184A>C | CA404313676 | NFIX | c.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) | |
19 | g.13025184A>G | CA404313678 | NFIX | c.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) | |
19 | g.13025184A>T | CA404313675 | NFIX | c.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) | |
19 | g.13025185G>A | CA505780946 | NFIX | c.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=) | |
19 | g.13025185G>C | CA404313682 | NFIX | c.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) | |
19 | g.13025185G>T | CA404313680 | NFIX | c.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) | |
19 | g.13025186C>A | CA404313685 | NFIX | c.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) | |
19 | g.13025186C>G | CA404313686 | NFIX | c.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) | |
19 | g.13025186C>T | CA404313687 | NFIX | c.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) | |
19 | g.13025188dup | CA2580096543 | NFIX | c.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 |
19 | g.13025186_13025187insTCAAG | CA2582789067 | NFIX | c.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 |
19 | g.13025187C>A | CA404313690 | NFIX | c.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) | |
19 | g.13025187C>G | CA404313692 | NFIX | c.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) | |
19 | g.13025187C>T | CA404313694 | NFIX | c.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 |
19 | g.13025188C>A | CA505780951 | NFIX | c.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 |
19 | g.13025188C>G | CA505780953 | NFIX | c.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=) | |
19 | g.13025188C>T | CA505780954 | NFIX | c.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=) | |
19 | g.13025189G>A | CA404313696 | NFIX | c.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) | |
19 | g.13025189G>C | CA404313697 | NFIX | c.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) | |
19 | g.13025189G>T | CA404313699 | NFIX | c.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) | |
19 | g.13025190A>C | CA404313701 | NFIX | c.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) | |
19 | g.13025190A>G | CA404313703 | NFIX | c.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 |
19 | g.13025190A>T | CA404313705 | NFIX | c.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) | |
19 | g.13025190_13025191insAGATCAAGCAGAAGAGAGATCAAGCAGAAGT | CA2582789068 | NFIX | c.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 |
19 | g.13025191G>A | CA505780962 | NFIX | c.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 |
19 | g.13025191G>C | CA404313709 | NFIX | c.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 |
19 | g.13025191G= | CA2323688858 | NFIX | c.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=) | |
19 | g.13025191G>T | CA404313708 | NFIX | c.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) | |
19 | g.13025192A= | CA2323688859 | NFIX | c.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=) | |
19 | g.13025192A>C | CA404313712 | NFIX | c.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) | |
19 | g.13025192A>G | CA404313714 | NFIX | c.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) | |
19 | g.13025192A>T | CA404313716 | NFIX | c.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) | |
19 | g.13025193T>A | CA404313719 | NFIX | c.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) | |
19 | g.13025193T>C | CA404313721 | NFIX | c.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) | |
19 | g.13025193T>G | CA404313723 | NFIX | c.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) | |
19 | g.13025193_13025194dup | CA920061902 | NFIX | c.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 |
19 | g.13025194C>A | CA505780970 | NFIX | c.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=) | |
19 | g.13025194C>G | CA404313725 | NFIX | c.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 |
19 | g.13025194C>T | CA505780971 | NFIX | c.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=) | |
19 | g.13025195A>C | CA404313727 | NFIX | c.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) | |
19 | g.13025195A>G | CA404313729 | NFIX | c.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) | |
19 | g.13025195A>T | CA404313731 | NFIX | c.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) | |
19 | g.13025196A= | CA2323688860 | NFIX | c.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=) | |
19 | g.13025196A>C | CA404313733 | NFIX | c.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) | |
19 | g.13025196A>G | CA9236957 | NFIX | c.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 |
19 | g.13025196A>T | CA404313737 | NFIX | c.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) | |
19 | g.13025197G>A | CA505780975 | NFIX | c.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=) | |
19 | g.13025197G>C | CA404313739 | NFIX | c.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) | |
19 | g.13025197G>T | CA404313741 | NFIX | c.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) | |
19 | g.13025198C>A | CA404313744 | NFIX | c.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) | |
19 | g.13025198C>G | CA404313745 | NFIX | c.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) | |
19 | g.13025198C>T | CA404313746 | NFIX | c.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) | |
19 | g.13025199A>C | CA404313747 | NFIX | c.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) | |
19 | g.13025199A>G | CA404313748 | NFIX | c.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 |
19 | g.13025199A>T | CA404313749 | NFIX | c.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) | |
19 | g.13025200G>A | CA505780979 | NFIX | c.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=) | |
19 | g.13025200G>C | CA404313750 | NFIX | c.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) | |
19 | g.13025200G>T | CA404313751 | NFIX | c.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) | |
19 | g.13025201A>C | CA404313752 | NFIX | c.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) | |
19 | g.13025201A>G | CA404313753 | NFIX | c.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) | |
19 | g.13025201A>T | CA404313754 | NFIX | c.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) | |
19 | g.13025202A= | CA2323688861 | NFIX | c.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=) | |
19 | g.13025202A>C | CA404313755 | NFIX | c.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 |
19 | g.13025202A>G | CA404313756 | NFIX | c.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) | |
19 | g.13025202A>T | CA404313757 | NFIX | c.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) | |
19 | g.13025203G>A | CA505780981 | NFIX | c.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=) | |
19 | g.13025203G>C | CA404313758 | NFIX | c.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) | |
19 | g.13025203G>T | CA404313759 | NFIX | c.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) | |
19 | g.13025204T>A | CA404313760 | NFIX | c.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) | |
19 | g.13025204T>C | CA404313761 | NFIX | c.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) | |
19 | g.13025204T>G | CA404313762 | NFIX | c.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) | |
19 | g.13025205G>A | CA404313763 | NFIX | c.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) | |
19 | g.13025205G>C | CA404313764 | NFIX | c.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) | |
19 | g.13025205G>T | CA404313765 | NFIX | c.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) | |
19 | g.13025206G>A | CA404313766 | NFIX | c.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) | |
19 | g.13025206G>C | CA404313767 | NFIX | c.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) | |
19 | g.13025206G>T | CA404313768 | NFIX | c.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) | |
19 | g.13025207G>A | CA404313769 | NFIX | c.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) | |
19 | g.13025207G>C | CA404313770 | NFIX | c.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) | |
19 | g.13025207G>T | CA404313771 | NFIX | c.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) | |
19 | g.13025208C>A | CA404313773 | NFIX | c.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) | |
19 | g.13025208C= | CA2323688862 | NFIX | c.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=) | |
19 | g.13025208C>G | CA404313772 | NFIX | c.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) | |
19 | g.13025208C>T | CA9236958 | NFIX | c.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 |
19 | g.13025209A>C | CA505780985 | NFIX | c.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=) | |
19 | g.13025209A>G | CA505780986 | NFIX | c.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=) | |
19 | g.13025209A>T | CA505780987 | NFIX | c.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=) | |
19 | g.13025210T>A | CA404313774 | NFIX | c.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) | |
19 | g.13025210T>C | CA404313776 | NFIX | c.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) | |
19 | g.13025210T>G | CA404313775 | NFIX | c.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) | |
19 | g.13025210_13025211delinsTC | CA2323688863 | NFIX | c.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=) | |
19 | g.13025211C>A | CA404313777 | NFIX | c.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) | |
19 | g.13025211C>G | CA404313779 | NFIX | c.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) | |
19 | g.13025211C>T | CA404313778 | NFIX | c.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) | |
19 | g.13025213del | CA1139666302 | NFIX | c.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 |
19 | g.13025212C>A | CA505780992 | NFIX | c.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=) | |
19 | g.13025212C>G | CA505780993 | NFIX | c.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=) | |
19 | g.13025212C>T | CA505780994 | NFIX | c.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=) | |
19 | g.13025213C>A | CA9236959 | NFIX | c.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 |
19 | g.13025213C= | CA2323688864 | NFIX | c.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=) | |
19 | g.13025213C>G | CA404313780 | NFIX | c.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 |
19 | g.13025213C>T | CA404313781 | NFIX | c.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) | |
19 | g.13025214G>A | CA404313782 | NFIX | c.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 |
19 | g.13025214G>C | CA404313783 | NFIX | c.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) | |
19 | g.13025214G>T | CA404313784 | NFIX | c.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) | |
19 | g.13025215G>A | CA505781000 | NFIX | c.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 |
19 | g.13025215G>C | CA9236960 | NFIX | c.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 |
19 | g.13025215G= | CA2323688865 | NFIX | c.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=) | |
19 | g.13025215G>T | CA505781001 | NFIX | c.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=) | |
19 | g.13025216C>A | CA404313785 | NFIX | c.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) | |
19 | g.13025216C>G | CA404313786 | NFIX | c.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) | |
19 | g.13025216C>T | CA505781003 | NFIX | c.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=) | |
19 | g.13025217T>A | CA404313790 | NFIX | c.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) | |
19 | g.13025217T>C | CA404313792 | NFIX | c.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) | |
19 | g.13025217T>G | CA404313795 | NFIX | c.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) | |
19 | g.13025218G>A | CA505781007 | NFIX | c.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 |
19 | g.13025218G>C | CA505781008 | NFIX | c.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=) | |
19 | g.13025218G>T | CA505781009 | NFIX | c.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=) | |
19 | g.13025219C>A | CA404313797 | NFIX | c.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) | |
19 | g.13025219C= | CA2323688866 | NFIX | c.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=) | |
19 | g.13025219C>G | CA404313799 | NFIX | c.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) | |
19 | g.13025219C>T | CA505781013 | NFIX | c.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 |
19 | g.13025219_13025235del | CA2580096545 | NFIX | c.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 |
19 | g.13025220T>A | CA404313801 | NFIX | c.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) | |
19 | g.13025220T>C | CA404313803 | NFIX | c.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) | |
19 | g.13025220T>G | CA404313806 | NFIX | c.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) | |
19 | g.13025221G>A | CA505781015 | NFIX | c.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 |
19 | g.13025221G>C | CA505781016 | NFIX | c.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=) | |
19 | g.13025221G>T | CA505781017 | NFIX | c.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=) | |
19 | g.13025222G>A | CA404313808 | NFIX | c.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) | |
19 | g.13025222G>C | CA404313809 | NFIX | c.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) | |
19 | g.13025222G>T | CA404313811 | NFIX | c.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) | |
19 | g.13025223C>A | CA404313814 | NFIX | c.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) | |
19 | g.13025223C= | CA2323688867 | NFIX | c.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=) | |
19 | g.13025223C>G | CA404313816 | NFIX | c.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 |
19 | g.13025223C>T | CA404313818 | NFIX | c.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) | |
19 | g.13025224C>A | CA505781022 | NFIX | c.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=) | |
19 | g.13025224C= | CA2323688868 | NFIX | c.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=) | |
19 | g.13025224C>G | CA505781024 | NFIX | c.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=) | |
19 | g.13025224C>T | CA9236961 | NFIX | c.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 |
19 | g.13025225A= | CA2323688869 | NFIX | c.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=) | |
19 | g.13025225A>C | CA404313825 | NFIX | c.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) | |
19 | g.13025225A>G | CA404313826 | NFIX | c.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) | |
19 | g.13025225A>T | CA404313822 | NFIX | c.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 |
19 | g.13025226A>C | CA404313830 | NFIX | c.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) | |
19 | g.13025226A>G | CA404313832 | NFIX | c.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) | |
19 | g.13025226A>T | CA404313834 | NFIX | c.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) | |
19 | g.13025227G>A | CA505781030 | NFIX | c.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 |
19 | g.13025227G>C | CA404313835 | NFIX | c.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) | |
19 | g.13025227G= | CA2323688870 | NFIX | c.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=) | |
19 | g.13025227G>T | CA404313838 | NFIX | c.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) | |
19 | g.13025228C>A | CA404313842 | NFIX | c.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) | |
19 | g.13025228C>G | CA404313840 | NFIX | c.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) | |
19 | g.13025228C>T | CA505781031 | NFIX | c.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 |
19 | g.13025229T>A | CA404313845 | NFIX | c.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) | |
19 | g.13025229T>C | CA404313847 | NFIX | c.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 |
19 | g.13025229T>G | CA404313849 | NFIX | c.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) | |
19 | g.13025230G>A | CA505781035 | NFIX | c.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=) | |
19 | g.13025230G>C | CA505781036 | NFIX | c.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 |
19 | g.13025230G= | CA2323688871 | NFIX | c.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=) | |
19 | g.13025230G>T | CA505781037 | NFIX | c.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=) | |
19 | g.13025231C>A | CA404313852 | NFIX | c.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) | |
19 | g.13025231C>G | CA404313854 | NFIX | c.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) | |
19 | g.13025231C>T | CA404313856 | NFIX | c.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) | |
19 | g.13025232G>A | CA9236962 | NFIX | c.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 |
19 | g.13025232G>C | CA404313861 | NFIX | c.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) | |
19 | g.13025232G= | CA2323688872 | NFIX | c.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=) | |
19 | g.13025232G>T | CA404313859 | NFIX | c.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 |
19 | g.13025232_13025236delinsT | CA2695228215 | NFIX | c.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) | |
19 | g.13025233C>A | CA505781047 | NFIX | c.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 |
19 | g.13025233C>G | CA505781046 | NFIX | c.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=) | |
19 | g.13025233C>T | CA505781045 | NFIX | c.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=) | |
19 | g.13025234A>C | CA404313863 | NFIX | c.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) | |
19 | g.13025234A>G | CA404313864 | NFIX | c.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) | |
19 | g.13025234A>T | CA404313867 | NFIX | c.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) | |
19 | g.13025235A>C | CA404313869 | NFIX | c.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) | |
19 | g.13025235A>G | CA404313871 | NFIX | c.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) | |
19 | g.13025235A>T | CA404313873 | NFIX | c.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) | |
19 | g.13025240_13025263del | CA2573054718 | NFIX | c.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 |
19 | g.13025236G>A | CA505781051 | NFIX | c.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=) | |
19 | g.13025236G>C | CA404313875 | NFIX | c.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 |
19 | g.13025236G>T | CA404313876 | NFIX | c.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) | |
19 | g.13025237G>A | CA404313879 | NFIX | c.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) | |
19 | g.13025237G>C | CA404313881 | NFIX | c.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) | |
19 | g.13025237G>T | CA404313883 | NFIX | c.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) | |
19 | g.13025238A>C | CA404313890 | NFIX | c.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) | |
19 | g.13025238A>G | CA404313887 | NFIX | c.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 |
19 | g.13025238A>T | CA404313886 | NFIX | c.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) | |
19 | g.13025239C>A | CA404313891 | NFIX | c.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) | |
19 | g.13025239C>G | CA404313893 | NFIX | c.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) | |
19 | g.13025239C>T | CA505781059 | NFIX | c.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=) | |
19 | g.13025240A>C | CA404313896 | NFIX | c.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) | |
19 | g.13025240A>G | CA404313897 | NFIX | c.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 |
19 | g.13025240A>T | CA404313899 | NFIX | c.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) | |
19 | g.13025241T>A | CA404313902 | NFIX | c.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) | |
19 | g.13025241T>C | CA404313904 | NFIX | c.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) | |
19 | g.13025241T>G | CA404313906 | NFIX | c.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) | |
19 | g.13025242C>A | CA505781064 | NFIX | c.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=) | |
19 | g.13025242C= | CA2323688873 | NFIX | c.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=) | |
19 | g.13025242C>G | CA404313908 | NFIX | c.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) | |
19 | g.13025242C>T | CA9236963 | NFIX | c.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 |
19 | g.13025243dup | CA2580617721 | NFIX | c.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 |
19 | g.13025243C>A | CA505781069 | NFIX | c.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=) | |
19 | g.13025243C= | CA2323688874 | NFIX | c.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=) | |
19 | g.13025243C>G | CA9236964 | NFIX | c.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 |
19 | g.13025243C>T | CA404313911 | NFIX | c.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) | |
19 | g.13025244G>A | CA404313913 | NFIX | c.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 |
19 | g.13025244G>C | CA404313915 | NFIX | c.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) | |
19 | g.13025244G>T | CA404313917 | NFIX | c.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) | |
19 | g.13025245G>A | CA505781072 | NFIX | c.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 |
19 | g.13025245G>C | CA505781073 | NFIX | c.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=) | |
19 | g.13025245G= | CA2323688875 | NFIX | c.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=) | |
19 | g.13025245G>T | CA9236965 | NFIX | c.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 |
19 | g.13025246C>A | CA404313918 | NFIX | c.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) | |
19 | g.13025246C>G | CA404313920 | NFIX | c.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 |
19 | g.13025246C>T | CA404313921 | NFIX | c.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) | |
19 | g.13025247C>A | CA404313923 | NFIX | c.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) | |
19 | g.13025247C>G | CA404313925 | NFIX | c.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) | |
19 | g.13025247C>T | CA404313927 | NFIX | c.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) | |
19 | g.13025248C>A | CA505781082 | NFIX | c.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=) | |
19 | g.13025248C= | CA2323688876 | NFIX | c.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=) | |
19 | g.13025248C>G | CA505781081 | NFIX | c.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 |
19 | g.13025248C>T | CA505781080 | NFIX | c.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 |
19 | g.13025249G>A | CA404313930 | NFIX | c.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 |
19 | g.13025249G>C | CA404313932 | NFIX | c.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) | |
19 | g.13025249G>T | CA404313933 | NFIX | c.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) | |
19 | g.13025250A>C | CA404313937 | NFIX | c.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) | |
19 | g.13025250A>G | CA404313939 | NFIX | c.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) | |
19 | g.13025250A>T | CA404313941 | NFIX | c.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 |
19 | g.13025251G>A | CA305548155 | NFIX | c.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 |
19 | g.13025251G>C | CA404313947 | NFIX | c.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) | |
19 | g.13025251G= | CA2323688877 | NFIX | c.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=) | |
19 | g.13025251G>T | CA404313944 | NFIX | c.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) | |
19 | g.13025252T>A | CA404313948 | NFIX | c.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) | |
19 | g.13025252T>C | CA404313950 | NFIX | c.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) | |
19 | g.13025252T>G | CA404313952 | NFIX | c.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) | |
19 | g.13025253T>A | CA404313954 | NFIX | c.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 |
19 | g.13025253T>C | CA404313956 | NFIX | c.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) | |
19 | g.13025253T>G | CA404313957 | NFIX | c.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) | |
19 | g.13025253T= | CA2323688878 | NFIX | c.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=) | |
19 | g.13025254C>A | CA404313960 | NFIX | c.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) | |
19 | g.13025254C>G | CA404313962 | NFIX | c.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) | |
19 | g.13025254C>T | CA505781087 | NFIX | c.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 |
19 | g.13025255C>A | CA404313966 | NFIX | c.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) | |
19 | g.13025255C>G | CA404313967 | NFIX | c.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) | |
19 | g.13025255C>T | CA404313970 | NFIX | c.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 |
19 | g.13025256G>A | CA404313973 | NFIX | c.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) | |
19 | g.13025256G>C | CA404313975 | NFIX | c.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) | |
19 | g.13025256G>T | CA404313976 | NFIX | c.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) | |
19 | g.13025257C>A | CA505781090 | NFIX | c.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=) | |
19 | g.13025257C= | CA2323688879 | NFIX | c.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=) | |
19 | g.13025257C>G | CA505781091 | NFIX | c.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=) | |
19 | g.13025257C>T | CA9236966 | NFIX | c.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 |
19 | g.13025258G>A | CA9236967 | NFIX | c.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 |
19 | g.13025258G>C | CA404313982 | NFIX | c.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) | |
19 | g.13025258G= | CA2323688880 | NFIX | c.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=) | |
19 | g.13025258G>T | CA404313984 | NFIX | c.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) | |
19 | g.13025258_13025265dup | CA2825002750 | NFIX | c.262_269dup (p.Phe90LeufsTer6) c.83_90dup c.265_272dup (p.Phe91LeufsTer6) c.289_296dup (p.Phe99LeufsTer6) c.274_281dup (p.Phe94LeufsTer6) c.124_131dup (p.Phe44LeufsTer6) c.241_248dup (p.Phe83LeufsTer6) c.*96_*103dup (n.*96_*103dup) c.313_320dup (p.Phe107LeufsTer6) c.442_449dup (p.Phe150LeufsTer6) | ClinVar |
19 | g.13025259A>C | CA404313987 | NFIX | c.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) | |
19 | g.13025259A>G | CA404313989 | NFIX | c.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) | |
19 | g.13025259A>T | CA404313991 | NFIX | c.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) | |
19 | g.13025259dup | CA2695228216 | NFIX | c.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) | |
19 | g.13025259_13025261delinsAGG | CA2323688881 | NFIX | c.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=) | |
19 | g.13025260G>A | CA505781095 | NFIX | c.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=) | |
19 | g.13025260G>C | CA404313994 | NFIX | c.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) | |
19 | g.13025260G>T | CA404313996 | NFIX | c.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) | |
19 | g.13025260_13025261delinsC | CA16620768 | NFIX | c.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 |
19 | g.13025261del | CA2739291182 | NFIX | c.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) | |
19 | g.13025261G>A | CA404313999 | NFIX | c.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) | |
19 | g.13025261G>C | CA404314001 | NFIX | c.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) | |
19 | g.13025261G>T | CA404314003 | NFIX | c.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) | |
19 | g.13025262A>C | CA404314004 | NFIX | c.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) | |
19 | g.13025262A>G | CA404314005 | NFIX | c.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) | |
19 | g.13025262A>T | CA404314007 | NFIX | c.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) | |
19 | g.13025263C>A | CA404314011 | NFIX | c.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) | |
19 | g.13025263C>G | CA404314009 | NFIX | c.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) | |
19 | g.13025263C>T | CA505781097 | NFIX | c.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=) | |
19 | g.13025264T>A | CA404314013 | NFIX | c.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) | |
19 | g.13025264T>C | CA404314016 | NFIX | c.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) | |
19 | g.13025264T>G | CA404314015 | NFIX | c.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) | |
19 | g.13025265T>A | CA404314020 | NFIX | c.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) | |
19 | g.13025265T>C | CA404314024 | NFIX | c.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) | |
19 | g.13025265T>G | CA404314022 | NFIX | c.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) | |
19 | g.13025266C>A | CA404314026 | NFIX | c.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) | |
19 | g.13025266C>G | CA404314028 | NFIX | c.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) | |
19 | g.13025266C>T | CA505781101 | NFIX | c.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 |
19 | g.13025268_13025281del | CA2740091907 | NFIX | c.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 |
19 | g.13025267del | CA2740091908 | NFIX | c.271del (p.Val91CysfsTer2) c.92del c.274del (p.Val92CysfsTer2) c.298del (p.Val100CysfsTer2) c.283del (p.Val95CysfsTer2) c.133del (p.Val45CysfsTer2) c.250del (p.Val84CysfsTer2) c.*105del (n.*105del) c.322del (p.Val108CysfsTer2) c.451del (p.Val151CysfsTer2) | ClinVar |
19 | g.13025267G>A | CA404314030 | NFIX | c.271G>A (p.Val91Met) c.92G>A c.274G>A (p.Val92Met) c.298G>A (p.Val100Met) c.283G>A (p.Val95Met) c.133G>A (p.Val45Met) c.250G>A (p.Val84Met) c.*105G>A (n.*105G>A) c.322G>A (p.Val108Met) c.451G>A (p.Val151Met) | |
19 | g.13025267G>C | CA404314032 | NFIX | c.271G>C (p.Val91Leu) c.92G>C c.274G>C (p.Val92Leu) c.298G>C (p.Val100Leu) c.283G>C (p.Val95Leu) c.133G>C (p.Val45Leu) c.250G>C (p.Val84Leu) c.*105G>C (n.*105G>C) c.322G>C (p.Val108Leu) c.451G>C (p.Val151Leu) | |
19 | g.13025267G>T | CA404314034 | NFIX | c.271G>T (p.Val91Leu) c.92G>T c.274G>T (p.Val92Leu) c.298G>T (p.Val100Leu) c.283G>T (p.Val95Leu) c.133G>T (p.Val45Leu) c.250G>T (p.Val84Leu) c.*105G>T (n.*105G>T) c.322G>T (p.Val108Leu) c.451G>T (p.Val151Leu) | |
19 | g.13025268T>A | CA404314037 | NFIX | c.272T>A (p.Val91Glu) c.93T>A c.275T>A (p.Val92Glu) c.299T>A (p.Val100Glu) c.284T>A (p.Val95Glu) c.134T>A (p.Val45Glu) c.251T>A (p.Val84Glu) c.*106T>A (n.*106T>A) c.323T>A (p.Val108Glu) c.452T>A (p.Val151Glu) | |
19 | g.13025268T>C | CA404314039 | NFIX | c.272T>C (p.Val91Ala) c.93T>C c.275T>C (p.Val92Ala) c.299T>C (p.Val100Ala) c.284T>C (p.Val95Ala) c.134T>C (p.Val45Ala) c.251T>C (p.Val84Ala) c.*106T>C (n.*106T>C) c.323T>C (p.Val108Ala) c.452T>C (p.Val151Ala) | |
19 | g.13025268T>G | CA404314041 | NFIX | c.272T>G (p.Val91Gly) c.93T>G c.275T>G (p.Val92Gly) c.299T>G (p.Val100Gly) c.284T>G (p.Val95Gly) c.134T>G (p.Val45Gly) c.251T>G (p.Val84Gly) c.*106T>G (n.*106T>G) c.323T>G (p.Val108Gly) c.452T>G (p.Val151Gly) | |
19 | g.13025269G>A | CA505781104 | NFIX | c.273G>A (p.Val91=) c.94G>A c.276G>A (p.Val92=) c.300G>A (p.Val100=) c.285G>A (p.Val95=) c.135G>A (p.Val45=) c.252G>A (p.Val84=) c.*107G>A (n.*107G>A) c.324G>A (p.Val108=) c.453G>A (p.Val151=) | |
19 | g.13025269G>C | CA505781103 | NFIX | c.273G>C (p.Val91=) c.94G>C c.276G>C (p.Val92=) c.300G>C (p.Val100=) c.285G>C (p.Val95=) c.135G>C (p.Val45=) c.252G>C (p.Val84=) c.*107G>C (n.*107G>C) c.324G>C (p.Val108=) c.453G>C (p.Val151=) | |
19 | g.13025269G>T | CA505781102 | NFIX | c.273G>T (p.Val91=) c.94G>T c.276G>T (p.Val92=) c.300G>T (p.Val100=) c.285G>T (p.Val95=) c.135G>T (p.Val45=) c.252G>T (p.Val84=) c.*107G>T (n.*107G>T) c.324G>T (p.Val108=) c.453G>T (p.Val151=) | |
19 | g.13025270C>A | CA404314044 | NFIX | c.274C>A (p.Leu92Met) c.95C>A c.277C>A (p.Leu93Met) c.301C>A (p.Leu101Met) c.286C>A (p.Leu96Met) c.136C>A (p.Leu46Met) c.253C>A (p.Leu85Met) c.*108C>A (n.*108C>A) c.325C>A (p.Leu109Met) c.454C>A (p.Leu152Met) | |
19 | g.13025270C>G | CA404314046 | NFIX | c.274C>G (p.Leu92Val) c.95C>G c.277C>G (p.Leu93Val) c.301C>G (p.Leu101Val) c.286C>G (p.Leu96Val) c.136C>G (p.Leu46Val) c.253C>G (p.Leu85Val) c.*108C>G (n.*108C>G) c.325C>G (p.Leu109Val) c.454C>G (p.Leu152Val) | gnomAD v4 |
19 | g.13025270C>T | CA505781105 | NFIX | c.274C>T (p.Leu92=) c.95C>T c.277C>T (p.Leu93=) c.301C>T (p.Leu101=) c.286C>T (p.Leu96=) c.136C>T (p.Leu46=) c.253C>T (p.Leu85=) c.*108C>T (n.*108C>T) c.325C>T (p.Leu109=) c.454C>T (p.Leu152=) | |
19 | g.13025271T>A | CA404314049 | NFIX | c.275T>A (p.Leu92Gln) c.96T>A c.278T>A (p.Leu93Gln) c.302T>A (p.Leu101Gln) c.287T>A (p.Leu96Gln) c.137T>A (p.Leu46Gln) c.254T>A (p.Leu85Gln) c.*109T>A (n.*109T>A) c.326T>A (p.Leu109Gln) c.455T>A (p.Leu152Gln) | |
19 | g.13025271T>C | CA404314052 | NFIX | c.275T>C (p.Leu92Pro) c.96T>C c.278T>C (p.Leu93Pro) c.302T>C (p.Leu101Pro) c.287T>C (p.Leu96Pro) c.137T>C (p.Leu46Pro) c.254T>C (p.Leu85Pro) c.*109T>C (n.*109T>C) c.326T>C (p.Leu109Pro) c.455T>C (p.Leu152Pro) | |
19 | g.13025271T>G | CA404314054 | NFIX | c.275T>G (p.Leu92Arg) c.96T>G c.278T>G (p.Leu93Arg) c.302T>G (p.Leu101Arg) c.287T>G (p.Leu96Arg) c.137T>G (p.Leu46Arg) c.254T>G (p.Leu85Arg) c.*109T>G (n.*109T>G) c.326T>G (p.Leu109Arg) c.455T>G (p.Leu152Arg) |