UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |