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.13025475T>A | CA404315598 | NFIX | c.479T>A (p.Leu160Gln) c.300T>A c.482T>A (p.Leu161Gln) c.506T>A (p.Leu169Gln) c.491T>A (p.Leu164Gln) c.234+107T>A (n.234+107T>A) c.458T>A (p.Leu153Gln) c.*313T>A (n.*313T>A) c.341T>A (p.Leu114Gln) c.530T>A (p.Leu177Gln) c.659T>A (p.Leu220Gln) | |
| 19 | g.13025475T>C | CA404315605 | NFIX | c.479T>C (p.Leu160Pro) c.300T>C c.482T>C (p.Leu161Pro) c.506T>C (p.Leu169Pro) c.491T>C (p.Leu164Pro) c.234+107T>C (n.234+107T>C) c.458T>C (p.Leu153Pro) c.*313T>C (n.*313T>C) c.341T>C (p.Leu114Pro) c.530T>C (p.Leu177Pro) c.659T>C (p.Leu220Pro) | dbSNP |
| 19 | g.13025475T>G | CA404315602 | NFIX | c.479T>G (p.Leu160Arg) c.300T>G c.482T>G (p.Leu161Arg) c.506T>G (p.Leu169Arg) c.491T>G (p.Leu164Arg) c.234+107T>G (n.234+107T>G) c.458T>G (p.Leu153Arg) c.*313T>G (n.*313T>G) c.341T>G (p.Leu114Arg) c.530T>G (p.Leu177Arg) c.659T>G (p.Leu220Arg) | |
| 19 | g.13025476G>A | CA505780874 | NFIX | c.480G>A (p.Leu160=) c.301G>A c.483G>A (p.Leu161=) c.507G>A (p.Leu169=) c.492G>A (p.Leu164=) c.234+108G>A (n.234+108G>A) c.459G>A (p.Leu153=) c.*314G>A (n.*314G>A) c.342G>A (p.Leu114=) c.531G>A (p.Leu177=) c.660G>A (p.Leu220=) | |
| 19 | g.13025476G>C | CA505780875 | NFIX | c.480G>C (p.Leu160=) c.301G>C c.483G>C (p.Leu161=) c.507G>C (p.Leu169=) c.492G>C (p.Leu164=) c.234+108G>C (n.234+108G>C) c.459G>C (p.Leu153=) c.*314G>C (n.*314G>C) c.342G>C (p.Leu114=) c.531G>C (p.Leu177=) c.660G>C (p.Leu220=) | |
| 19 | g.13025476G>T | CA505780876 | NFIX | c.480G>T (p.Leu160=) c.301G>T c.483G>T (p.Leu161=) c.507G>T (p.Leu169=) c.492G>T (p.Leu164=) c.234+108G>T (n.234+108G>T) c.459G>T (p.Leu153=) c.*314G>T (n.*314G>T) c.342G>T (p.Leu114=) c.531G>T (p.Leu177=) c.660G>T (p.Leu220=) | |
| 19 | g.13025477T>A | CA404315609 | NFIX | c.481T>A (p.Cys161Ser) c.302T>A c.484T>A (p.Cys162Ser) c.508T>A (p.Cys170Ser) c.493T>A (p.Cys165Ser) c.234+109T>A (n.234+109T>A) c.460T>A (p.Cys154Ser) c.*315T>A (n.*315T>A) c.343T>A (p.Cys115Ser) c.532T>A (p.Cys178Ser) c.661T>A (p.Cys221Ser) | |
| 19 | g.13025477T>C | CA404315613 | NFIX | c.481T>C (p.Cys161Arg) c.302T>C c.484T>C (p.Cys162Arg) c.508T>C (p.Cys170Arg) c.493T>C (p.Cys165Arg) c.234+109T>C (n.234+109T>C) c.460T>C (p.Cys154Arg) c.*315T>C (n.*315T>C) c.343T>C (p.Cys115Arg) c.532T>C (p.Cys178Arg) c.661T>C (p.Cys221Arg) | |
| 19 | g.13025477T>G | CA404315617 | NFIX | c.481T>G (p.Cys161Gly) c.302T>G c.484T>G (p.Cys162Gly) c.508T>G (p.Cys170Gly) c.493T>G (p.Cys165Gly) c.234+109T>G (n.234+109T>G) c.460T>G (p.Cys154Gly) c.*315T>G (n.*315T>G) c.343T>G (p.Cys115Gly) c.532T>G (p.Cys178Gly) c.661T>G (p.Cys221Gly) | |
| 19 | g.13025478G>A | CA404315622 | NFIX | c.482G>A (p.Cys161Tyr) c.303G>A c.485G>A (p.Cys162Tyr) c.509G>A (p.Cys170Tyr) c.494G>A (p.Cys165Tyr) c.234+110G>A (n.234+110G>A) c.461G>A (p.Cys154Tyr) c.*316G>A (n.*316G>A) c.344G>A (p.Cys115Tyr) c.533G>A (p.Cys178Tyr) c.662G>A (p.Cys221Tyr) | |
| 19 | g.13025478G>C | CA404315627 | NFIX | c.482G>C (p.Cys161Ser) c.303G>C c.485G>C (p.Cys162Ser) c.509G>C (p.Cys170Ser) c.494G>C (p.Cys165Ser) c.234+110G>C (n.234+110G>C) c.461G>C (p.Cys154Ser) c.*316G>C (n.*316G>C) c.344G>C (p.Cys115Ser) c.533G>C (p.Cys178Ser) c.662G>C (p.Cys221Ser) | |
| 19 | g.13025478G>T | CA404315629 | NFIX | c.482G>T (p.Cys161Phe) c.303G>T c.485G>T (p.Cys162Phe) c.509G>T (p.Cys170Phe) c.494G>T (p.Cys165Phe) c.234+110G>T (n.234+110G>T) c.461G>T (p.Cys154Phe) c.*316G>T (n.*316G>T) c.344G>T (p.Cys115Phe) c.533G>T (p.Cys178Phe) c.662G>T (p.Cys221Phe) | |
| 19 | g.13025479C>A | CA404315633 | NFIX | c.483C>A (p.Cys161Ter) c.304C>A c.486C>A (p.Cys162Ter) c.510C>A (p.Cys170Ter) c.495C>A (p.Cys165Ter) c.234+111C>A (n.234+111C>A) c.462C>A (p.Cys154Ter) c.*317C>A (n.*317C>A) c.345C>A (p.Cys115Ter) c.534C>A (p.Cys178Ter) c.663C>A (p.Cys221Ter) | ClinVar |
| 19 | g.13025479C= | CA2323688956 | NFIX | c.483C= (p.Cys161=) c.304C= c.486C= (p.Cys162=) c.510C= (p.Cys170=) c.495C= (p.Cys165=) c.234+111C= (n.234+111C=) c.462C= (p.Cys154=) c.*317C= (n.*317C=) c.345C= (p.Cys115=) c.534C= (p.Cys178=) c.663C= (p.Cys221=) | |
| 19 | g.13025479C>G | CA404315636 | NFIX | c.483C>G (p.Cys161Trp) c.304C>G c.486C>G (p.Cys162Trp) c.510C>G (p.Cys170Trp) c.495C>G (p.Cys165Trp) c.234+111C>G (n.234+111C>G) c.462C>G (p.Cys154Trp) c.*317C>G (n.*317C>G) c.345C>G (p.Cys115Trp) c.534C>G (p.Cys178Trp) c.663C>G (p.Cys221Trp) | dbSNP |
| 19 | g.13025479C>T | CA505780877 | NFIX | c.483C>T (p.Cys161=) c.304C>T c.486C>T (p.Cys162=) c.510C>T (p.Cys170=) c.495C>T (p.Cys165=) c.234+111C>T (n.234+111C>T) c.462C>T (p.Cys154=) c.*317C>T (n.*317C>T) c.345C>T (p.Cys115=) c.534C>T (p.Cys178=) c.663C>T (p.Cys221=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13025480G>A | CA404315640 | NFIX | c.484G>A (p.Val162Ile) c.305G>A c.487G>A (p.Val163Ile) c.511G>A (p.Val171Ile) c.496G>A (p.Val166Ile) c.234+112G>A (n.234+112G>A) c.463G>A (p.Val155Ile) c.*318G>A (n.*318G>A) c.346G>A (p.Val116Ile) c.535G>A (p.Val179Ile) c.664G>A (p.Val222Ile) | gnomAD v4 |
| 19 | g.13025480G>C | CA404315643 | NFIX | c.484G>C (p.Val162Leu) c.305G>C c.487G>C (p.Val163Leu) c.511G>C (p.Val171Leu) c.496G>C (p.Val166Leu) c.234+112G>C (n.234+112G>C) c.463G>C (p.Val155Leu) c.*318G>C (n.*318G>C) c.346G>C (p.Val116Leu) c.535G>C (p.Val179Leu) c.664G>C (p.Val222Leu) | |
| 19 | g.13025480G>T | CA404315645 | NFIX | c.484G>T (p.Val162Phe) c.305G>T c.487G>T (p.Val163Phe) c.511G>T (p.Val171Phe) c.496G>T (p.Val166Phe) c.234+112G>T (n.234+112G>T) c.463G>T (p.Val155Phe) c.*318G>T (n.*318G>T) c.346G>T (p.Val116Phe) c.535G>T (p.Val179Phe) c.664G>T (p.Val222Phe) | ClinVar dbSNP |
| 19 | g.13025481T>A | CA404315646 | NFIX | c.485T>A (p.Val162Asp) c.306T>A c.488T>A (p.Val163Asp) c.512T>A (p.Val171Asp) c.497T>A (p.Val166Asp) c.234+113T>A (n.234+113T>A) c.464T>A (p.Val155Asp) c.*319T>A (n.*319T>A) c.347T>A (p.Val116Asp) c.536T>A (p.Val179Asp) c.665T>A (p.Val222Asp) | |
| 19 | g.13025481T>C | CA404315648 | NFIX | c.485T>C (p.Val162Ala) c.306T>C c.488T>C (p.Val163Ala) c.512T>C (p.Val171Ala) c.497T>C (p.Val166Ala) c.234+113T>C (n.234+113T>C) c.464T>C (p.Val155Ala) c.*319T>C (n.*319T>C) c.347T>C (p.Val116Ala) c.536T>C (p.Val179Ala) c.665T>C (p.Val222Ala) | |
| 19 | g.13025481T>G | CA16043076 | NFIX | c.485T>G (p.Val162Gly) c.306T>G c.488T>G (p.Val163Gly) c.512T>G (p.Val171Gly) c.497T>G (p.Val166Gly) c.234+113T>G (n.234+113T>G) c.464T>G (p.Val155Gly) c.*319T>G (n.*319T>G) c.347T>G (p.Val116Gly) c.536T>G (p.Val179Gly) c.665T>G (p.Val222Gly) | ClinVar dbSNP |
| 19 | g.13025481T= | CA2323688957 | NFIX | c.485T= (p.Val162=) c.306T= c.488T= (p.Val163=) c.512T= (p.Val171=) c.497T= (p.Val166=) c.234+113T= (n.234+113T=) c.464T= (p.Val155=) c.*319T= (n.*319T=) c.347T= (p.Val116=) c.536T= (p.Val179=) c.665T= (p.Val222=) | |
| 19 | g.13025482C>A | CA505780879 | NFIX | c.486C>A (p.Val162=) c.307C>A c.489C>A (p.Val163=) c.513C>A (p.Val171=) c.498C>A (p.Val166=) c.234+114C>A (n.234+114C>A) c.465C>A (p.Val155=) c.*320C>A (n.*320C>A) c.348C>A (p.Val116=) c.537C>A (p.Val179=) c.666C>A (p.Val222=) | |
| 19 | g.13025482C>G | CA505780880 | NFIX | c.486C>G (p.Val162=) c.307C>G c.489C>G (p.Val163=) c.513C>G (p.Val171=) c.498C>G (p.Val166=) c.234+114C>G (n.234+114C>G) c.465C>G (p.Val155=) c.*320C>G (n.*320C>G) c.348C>G (p.Val116=) c.537C>G (p.Val179=) c.666C>G (p.Val222=) | |
| 19 | g.13025482C>T | CA505780881 | NFIX | c.486C>T (p.Val162=) c.307C>T c.489C>T (p.Val163=) c.513C>T (p.Val171=) c.498C>T (p.Val166=) c.234+114C>T (n.234+114C>T) c.465C>T (p.Val155=) c.*320C>T (n.*320C>T) c.348C>T (p.Val116=) c.537C>T (p.Val179=) c.666C>T (p.Val222=) | |
| 19 | g.13025483C>A | CA404315655 | NFIX | c.487C>A (p.Gln163Lys) c.308C>A c.490C>A (p.Gln164Lys) c.514C>A (p.Gln172Lys) c.499C>A (p.Gln167Lys) c.234+115C>A (n.234+115C>A) c.466C>A (p.Gln156Lys) c.*321C>A (n.*321C>A) c.349C>A (p.Gln117Lys) c.538C>A (p.Gln180Lys) c.667C>A (p.Gln223Lys) | |
| 19 | g.13025483C>G | CA404315652 | NFIX | c.487C>G (p.Gln163Glu) c.308C>G c.490C>G (p.Gln164Glu) c.514C>G (p.Gln172Glu) c.499C>G (p.Gln167Glu) c.234+115C>G (n.234+115C>G) c.466C>G (p.Gln156Glu) c.*321C>G (n.*321C>G) c.349C>G (p.Gln117Glu) c.538C>G (p.Gln180Glu) c.667C>G (p.Gln223Glu) | |
| 19 | g.13025483C>T | CA404315658 | NFIX | c.487C>T (p.Gln163Ter) c.308C>T c.490C>T (p.Gln164Ter) c.514C>T (p.Gln172Ter) c.499C>T (p.Gln167Ter) c.234+115C>T (n.234+115C>T) c.466C>T (p.Gln156Ter) c.*321C>T (n.*321C>T) c.349C>T (p.Gln117Ter) c.538C>T (p.Gln180Ter) c.667C>T (p.Gln223Ter) | |
| 19 | g.13025484A>C | CA404315660 | NFIX | c.488A>C (p.Gln163Pro) c.309A>C c.491A>C (p.Gln164Pro) c.515A>C (p.Gln172Pro) c.500A>C (p.Gln167Pro) c.234+116A>C (n.234+116A>C) c.467A>C (p.Gln156Pro) c.*322A>C (n.*322A>C) c.350A>C (p.Gln117Pro) c.539A>C (p.Gln180Pro) c.668A>C (p.Gln223Pro) | |
| 19 | g.13025484A>G | CA404315663 | NFIX | c.488A>G (p.Gln163Arg) c.309A>G c.491A>G (p.Gln164Arg) c.515A>G (p.Gln172Arg) c.500A>G (p.Gln167Arg) c.234+116A>G (n.234+116A>G) c.467A>G (p.Gln156Arg) c.*322A>G (n.*322A>G) c.350A>G (p.Gln117Arg) c.539A>G (p.Gln180Arg) c.668A>G (p.Gln223Arg) | |
| 19 | g.13025484A>T | CA404315665 | NFIX | c.488A>T (p.Gln163Leu) c.309A>T c.491A>T (p.Gln164Leu) c.515A>T (p.Gln172Leu) c.500A>T (p.Gln167Leu) c.234+116A>T (n.234+116A>T) c.467A>T (p.Gln156Leu) c.*322A>T (n.*322A>T) c.350A>T (p.Gln117Leu) c.539A>T (p.Gln180Leu) c.668A>T (p.Gln223Leu) | |
| 19 | g.13025485G>A | CA505780882 | NFIX | c.489G>A (p.Gln163=) c.310G>A c.492G>A (p.Gln164=) c.516G>A (p.Gln172=) c.501G>A (p.Gln167=) c.234+117G>A (n.234+117G>A) c.468G>A (p.Gln156=) c.*323G>A (n.*323G>A) c.351G>A (p.Gln117=) c.540G>A (p.Gln180=) c.669G>A (p.Gln223=) | |
| 19 | g.13025485G>C | CA404315669 | NFIX | c.489G>C (p.Gln163His) c.310G>C c.492G>C (p.Gln164His) c.516G>C (p.Gln172His) c.501G>C (p.Gln167His) c.234+117G>C (n.234+117G>C) c.468G>C (p.Gln156His) c.*323G>C (n.*323G>C) c.351G>C (p.Gln117His) c.540G>C (p.Gln180His) c.669G>C (p.Gln223His) | |
| 19 | g.13025485G>T | CA404315670 | NFIX | c.489G>T (p.Gln163His) c.310G>T c.492G>T (p.Gln164His) c.516G>T (p.Gln172His) c.501G>T (p.Gln167His) c.234+117G>T (n.234+117G>T) c.468G>T (p.Gln156His) c.*323G>T (n.*323G>T) c.351G>T (p.Gln117His) c.540G>T (p.Gln180His) c.669G>T (p.Gln223His) | |
| 19 | g.13025486C>A | CA404315674 | NFIX | c.490C>A (p.Pro164Thr) c.311C>A c.493C>A (p.Pro165Thr) c.517C>A (p.Pro173Thr) c.502C>A (p.Pro168Thr) c.234+118C>A (n.234+118C>A) c.469C>A (p.Pro157Thr) c.*324C>A (n.*324C>A) c.352C>A (p.Pro118Thr) c.541C>A (p.Pro181Thr) c.670C>A (p.Pro224Thr) | |
| 19 | g.13025486C>G | CA404315676 | NFIX | c.490C>G (p.Pro164Ala) c.311C>G c.493C>G (p.Pro165Ala) c.517C>G (p.Pro173Ala) c.502C>G (p.Pro168Ala) c.234+118C>G (n.234+118C>G) c.469C>G (p.Pro157Ala) c.*324C>G (n.*324C>G) c.352C>G (p.Pro118Ala) c.541C>G (p.Pro181Ala) c.670C>G (p.Pro224Ala) | |
| 19 | g.13025486C>T | CA404315678 | NFIX | c.490C>T (p.Pro164Ser) c.311C>T c.493C>T (p.Pro165Ser) c.517C>T (p.Pro173Ser) c.502C>T (p.Pro168Ser) c.234+118C>T (n.234+118C>T) c.469C>T (p.Pro157Ser) c.*324C>T (n.*324C>T) c.352C>T (p.Pro118Ser) c.541C>T (p.Pro181Ser) c.670C>T (p.Pro224Ser) | |
| 19 | g.13025487C>A | CA404315680 | NFIX | c.491C>A (p.Pro164Gln) c.312C>A c.494C>A (p.Pro165Gln) c.518C>A (p.Pro173Gln) c.503C>A (p.Pro168Gln) c.234+119C>A (n.234+119C>A) c.470C>A (p.Pro157Gln) c.*325C>A (n.*325C>A) c.353C>A (p.Pro118Gln) c.542C>A (p.Pro181Gln) c.671C>A (p.Pro224Gln) | |
| 19 | g.13025487C>G | CA404315682 | NFIX | c.491C>G (p.Pro164Arg) c.312C>G c.494C>G (p.Pro165Arg) c.518C>G (p.Pro173Arg) c.503C>G (p.Pro168Arg) c.234+119C>G (n.234+119C>G) c.470C>G (p.Pro157Arg) c.*325C>G (n.*325C>G) c.353C>G (p.Pro118Arg) c.542C>G (p.Pro181Arg) c.671C>G (p.Pro224Arg) | |
| 19 | g.13025487C>T | CA404315684 | NFIX | c.491C>T (p.Pro164Leu) c.312C>T c.494C>T (p.Pro165Leu) c.518C>T (p.Pro173Leu) c.503C>T (p.Pro168Leu) c.234+119C>T (n.234+119C>T) c.470C>T (p.Pro157Leu) c.*325C>T (n.*325C>T) c.353C>T (p.Pro118Leu) c.542C>T (p.Pro181Leu) c.671C>T (p.Pro224Leu) | |
| 19 | g.13025488A= | CA2323688958 | NFIX | c.492A= (p.Pro164=) c.313A= c.495A= (p.Pro165=) c.519A= (p.Pro173=) c.504A= (p.Pro168=) c.234+120A= (n.234+120A=) c.471A= (p.Pro157=) c.*326A= (n.*326A=) c.354A= (p.Pro118=) c.543A= (p.Pro181=) c.672A= (p.Pro224=) | |
| 19 | g.13025488A>C | CA505780886 | NFIX | c.492A>C (p.Pro164=) c.313A>C c.495A>C (p.Pro165=) c.519A>C (p.Pro173=) c.504A>C (p.Pro168=) c.234+120A>C (n.234+120A>C) c.471A>C (p.Pro157=) c.*326A>C (n.*326A>C) c.354A>C (p.Pro118=) c.543A>C (p.Pro181=) c.672A>C (p.Pro224=) | |
| 19 | g.13025488A>G | CA505780885 | NFIX | c.492A>G (p.Pro164=) c.313A>G c.495A>G (p.Pro165=) c.519A>G (p.Pro173=) c.504A>G (p.Pro168=) c.234+120A>G (n.234+120A>G) c.471A>G (p.Pro157=) c.*326A>G (n.*326A>G) c.354A>G (p.Pro118=) c.543A>G (p.Pro181=) c.672A>G (p.Pro224=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13025488A>T | CA505780884 | NFIX | c.492A>T (p.Pro164=) c.313A>T c.495A>T (p.Pro165=) c.519A>T (p.Pro173=) c.504A>T (p.Pro168=) c.234+120A>T (n.234+120A>T) c.471A>T (p.Pro157=) c.*326A>T (n.*326A>T) c.354A>T (p.Pro118=) c.543A>T (p.Pro181=) c.672A>T (p.Pro224=) | |
| 19 | g.13025489C>A | CA404315693 | NFIX | c.493C>A (p.His165Asn) c.314C>A c.496C>A (p.His166Asn) c.520C>A (p.His174Asn) c.505C>A (p.His169Asn) c.234+121C>A (n.234+121C>A) c.472C>A (p.His158Asn) c.*327C>A (n.*327C>A) c.355C>A (p.His119Asn) c.544C>A (p.His182Asn) c.673C>A (p.His225Asn) | |
| 19 | g.13025489C>G | CA404315690 | NFIX | c.493C>G (p.His165Asp) c.314C>G c.496C>G (p.His166Asp) c.520C>G (p.His174Asp) c.505C>G (p.His169Asp) c.234+121C>G (n.234+121C>G) c.472C>G (p.His158Asp) c.*327C>G (n.*327C>G) c.355C>G (p.His119Asp) c.544C>G (p.His182Asp) c.673C>G (p.His225Asp) | |
| 19 | g.13025489C>T | CA404315687 | NFIX | c.493C>T (p.His165Tyr) c.314C>T c.496C>T (p.His166Tyr) c.520C>T (p.His174Tyr) c.505C>T (p.His169Tyr) c.234+121C>T (n.234+121C>T) c.472C>T (p.His158Tyr) c.*327C>T (n.*327C>T) c.355C>T (p.His119Tyr) c.544C>T (p.His182Tyr) c.673C>T (p.His225Tyr) | ClinVar dbSNP |
| 19 | g.13025490A>C | CA404315698 | NFIX | c.494A>C (p.His165Pro) c.315A>C c.497A>C (p.His166Pro) c.521A>C (p.His174Pro) c.506A>C (p.His169Pro) c.234+122A>C (n.234+122A>C) c.473A>C (p.His158Pro) c.*328A>C (n.*328A>C) c.356A>C (p.His119Pro) c.545A>C (p.His182Pro) c.674A>C (p.His225Pro) | |
| 19 | g.13025490A>G | CA404315701 | NFIX | c.494A>G (p.His165Arg) c.315A>G c.497A>G (p.His166Arg) c.521A>G (p.His174Arg) c.506A>G (p.His169Arg) c.234+122A>G (n.234+122A>G) c.473A>G (p.His158Arg) c.*328A>G (n.*328A>G) c.356A>G (p.His119Arg) c.545A>G (p.His182Arg) c.674A>G (p.His225Arg) |