Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
19 | g.13025272G>A | CA505781107 | NFIX | c.276G>A (p.Leu92=) c.97G>A c.279G>A (p.Leu93=) c.303G>A (p.Leu101=) c.288G>A (p.Leu96=) c.138G>A (p.Leu46=) c.255G>A (p.Leu85=) c.*110G>A (n.*110G>A) c.327G>A (p.Leu109=) c.456G>A (p.Leu152=) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13025272G>C | CA505781108 | NFIX | c.276G>C (p.Leu92=) c.97G>C c.279G>C (p.Leu93=) c.303G>C (p.Leu101=) c.288G>C (p.Leu96=) c.138G>C (p.Leu46=) c.255G>C (p.Leu85=) c.*110G>C (n.*110G>C) c.327G>C (p.Leu109=) c.456G>C (p.Leu152=) | gnomAD v4 |
19 | g.13025272G>T | CA505781109 | NFIX | c.276G>T (p.Leu92=) c.97G>T c.279G>T (p.Leu93=) c.303G>T (p.Leu101=) c.288G>T (p.Leu96=) c.138G>T (p.Leu46=) c.255G>T (p.Leu85=) c.*110G>T (n.*110G>T) c.327G>T (p.Leu109=) c.456G>T (p.Leu152=) | |
19 | g.13025272dup | CA2832529056 | NFIX | c.276dup (p.Thr93AspfsTer25) c.97dup c.279dup (p.Thr94AspfsTer25) c.303dup (p.Thr102AspfsTer25) c.288dup (p.Thr97AspfsTer25) c.138dup (p.Thr47AspfsTer25) c.255dup (p.Thr86AspfsTer25) c.*110dup (n.*110dup) c.327dup (p.Thr110AspfsTer25) c.456dup (p.Thr153AspfsTer25) | |
19 | g.13025273A>C | CA404314059 | NFIX | c.277A>C (p.Thr93Pro) c.98A>C c.280A>C (p.Thr94Pro) c.304A>C (p.Thr102Pro) c.289A>C (p.Thr97Pro) c.139A>C (p.Thr47Pro) c.256A>C (p.Thr86Pro) c.*111A>C (n.*111A>C) c.328A>C (p.Thr110Pro) c.457A>C (p.Thr153Pro) | |
19 | g.13025273A>G | CA404314056 | NFIX | c.277A>G (p.Thr93Ala) c.98A>G c.280A>G (p.Thr94Ala) c.304A>G (p.Thr102Ala) c.289A>G (p.Thr97Ala) c.139A>G (p.Thr47Ala) c.256A>G (p.Thr86Ala) c.*111A>G (n.*111A>G) c.328A>G (p.Thr110Ala) c.457A>G (p.Thr153Ala) | |
19 | g.13025273A>T | CA404314058 | NFIX | c.277A>T (p.Thr93Ser) c.98A>T c.280A>T (p.Thr94Ser) c.304A>T (p.Thr102Ser) c.289A>T (p.Thr97Ser) c.139A>T (p.Thr47Ser) c.256A>T (p.Thr86Ser) c.*111A>T (n.*111A>T) c.328A>T (p.Thr110Ser) c.457A>T (p.Thr153Ser) | |
19 | g.13025274C>A | CA404314061 | NFIX | c.278C>A (p.Thr93Asn) c.99C>A c.281C>A (p.Thr94Asn) c.305C>A (p.Thr102Asn) c.290C>A (p.Thr97Asn) c.140C>A (p.Thr47Asn) c.257C>A (p.Thr86Asn) c.*112C>A (n.*112C>A) c.329C>A (p.Thr110Asn) c.458C>A (p.Thr153Asn) | |
19 | g.13025274C>G | CA404314063 | NFIX | c.278C>G (p.Thr93Ser) c.99C>G c.281C>G (p.Thr94Ser) c.305C>G (p.Thr102Ser) c.290C>G (p.Thr97Ser) c.140C>G (p.Thr47Ser) c.257C>G (p.Thr86Ser) c.*112C>G (n.*112C>G) c.329C>G (p.Thr110Ser) c.458C>G (p.Thr153Ser) | |
19 | g.13025274C>T | CA404314065 | NFIX | c.278C>T (p.Thr93Ile) c.99C>T c.281C>T (p.Thr94Ile) c.305C>T (p.Thr102Ile) c.290C>T (p.Thr97Ile) c.140C>T (p.Thr47Ile) c.257C>T (p.Thr86Ile) c.*112C>T (n.*112C>T) c.329C>T (p.Thr110Ile) c.458C>T (p.Thr153Ile) | |
19 | g.13025275C>A | CA505781111 | NFIX | c.279C>A (p.Thr93=) c.100C>A c.282C>A (p.Thr94=) c.306C>A (p.Thr102=) c.291C>A (p.Thr97=) c.141C>A (p.Thr47=) c.258C>A (p.Thr86=) c.*113C>A (n.*113C>A) c.330C>A (p.Thr110=) c.459C>A (p.Thr153=) | |
19 | g.13025275C= | CA2323688882 | NFIX | c.279C= (p.Thr93=) c.100C= c.282C= (p.Thr94=) c.306C= (p.Thr102=) c.291C= (p.Thr97=) c.141C= (p.Thr47=) c.258C= (p.Thr86=) c.*113C= (n.*113C=) c.330C= (p.Thr110=) c.459C= (p.Thr153=) | |
19 | g.13025275C>G | CA505781112 | NFIX | c.279C>G (p.Thr93=) c.100C>G c.282C>G (p.Thr94=) c.306C>G (p.Thr102=) c.291C>G (p.Thr97=) c.141C>G (p.Thr47=) c.258C>G (p.Thr86=) c.*113C>G (n.*113C>G) c.330C>G (p.Thr110=) c.459C>G (p.Thr153=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13025275C>T | CA505781114 | NFIX | c.279C>T (p.Thr93=) c.100C>T c.282C>T (p.Thr94=) c.306C>T (p.Thr102=) c.291C>T (p.Thr97=) c.141C>T (p.Thr47=) c.258C>T (p.Thr86=) c.*113C>T (n.*113C>T) c.330C>T (p.Thr110=) c.459C>T (p.Thr153=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13025276A>C | CA404314068 | NFIX | c.280A>C (p.Ile94Leu) c.101A>C c.283A>C (p.Ile95Leu) c.307A>C (p.Ile103Leu) c.292A>C (p.Ile98Leu) c.142A>C (p.Ile48Leu) c.259A>C (p.Ile87Leu) c.*114A>C (n.*114A>C) c.331A>C (p.Ile111Leu) c.460A>C (p.Ile154Leu) | |
19 | g.13025276A>G | CA404314070 | NFIX | c.280A>G (p.Ile94Val) c.101A>G c.283A>G (p.Ile95Val) c.307A>G (p.Ile103Val) c.292A>G (p.Ile98Val) c.142A>G (p.Ile48Val) c.259A>G (p.Ile87Val) c.*114A>G (n.*114A>G) c.331A>G (p.Ile111Val) c.460A>G (p.Ile154Val) | gnomAD v4 |
19 | g.13025276A>T | CA404314072 | NFIX | c.280A>T (p.Ile94Phe) c.101A>T c.283A>T (p.Ile95Phe) c.307A>T (p.Ile103Phe) c.292A>T (p.Ile98Phe) c.142A>T (p.Ile48Phe) c.259A>T (p.Ile87Phe) c.*114A>T (n.*114A>T) c.331A>T (p.Ile111Phe) c.460A>T (p.Ile154Phe) | |
19 | g.13025277T>A | CA404314074 | NFIX | c.281T>A (p.Ile94Asn) c.102T>A c.284T>A (p.Ile95Asn) c.308T>A (p.Ile103Asn) c.293T>A (p.Ile98Asn) c.143T>A (p.Ile48Asn) c.260T>A (p.Ile87Asn) c.*115T>A (n.*115T>A) c.332T>A (p.Ile111Asn) c.461T>A (p.Ile154Asn) | |
19 | g.13025277T>C | CA404314076 | NFIX | c.281T>C (p.Ile94Thr) c.102T>C c.284T>C (p.Ile95Thr) c.308T>C (p.Ile103Thr) c.293T>C (p.Ile98Thr) c.143T>C (p.Ile48Thr) c.260T>C (p.Ile87Thr) c.*115T>C (n.*115T>C) c.332T>C (p.Ile111Thr) c.461T>C (p.Ile154Thr) | |
19 | g.13025277T>G | CA404314077 | NFIX | c.281T>G (p.Ile94Ser) c.102T>G c.284T>G (p.Ile95Ser) c.308T>G (p.Ile103Ser) c.293T>G (p.Ile98Ser) c.143T>G (p.Ile48Ser) c.260T>G (p.Ile87Ser) c.*115T>G (n.*115T>G) c.332T>G (p.Ile111Ser) c.461T>G (p.Ile154Ser) | |
19 | g.13025278C>A | CA505781119 | NFIX | c.282C>A (p.Ile94=) c.103C>A c.285C>A (p.Ile95=) c.309C>A (p.Ile103=) c.294C>A (p.Ile98=) c.144C>A (p.Ile48=) c.261C>A (p.Ile87=) c.*116C>A (n.*116C>A) c.333C>A (p.Ile111=) c.462C>A (p.Ile154=) | |
19 | g.13025278C>G | CA404314079 | NFIX | c.282C>G (p.Ile94Met) c.103C>G c.285C>G (p.Ile95Met) c.309C>G (p.Ile103Met) c.294C>G (p.Ile98Met) c.144C>G (p.Ile48Met) c.261C>G (p.Ile87Met) c.*116C>G (n.*116C>G) c.333C>G (p.Ile111Met) c.462C>G (p.Ile154Met) | |
19 | g.13025278C>T | CA505781120 | NFIX | c.282C>T (p.Ile94=) c.103C>T c.285C>T (p.Ile95=) c.309C>T (p.Ile103=) c.294C>T (p.Ile98=) c.144C>T (p.Ile48=) c.261C>T (p.Ile87=) c.*116C>T (n.*116C>T) c.333C>T (p.Ile111=) c.462C>T (p.Ile154=) | |
19 | g.13025279_13025293del | CA2573156010 | NFIX | c.283_297del (p.Thr95_Pro99del) c.104_118del c.286_300del (p.Thr96_Pro100del) c.310_324del (p.Thr104_Pro108del) c.295_309del (p.Thr99_Pro103del) c.145_159del (p.Thr49_Pro53del) c.262_276del (p.Thr88_Pro92del) c.*117_*131del (n.*117_*131del) c.334_348del (p.Thr112_Pro116del) c.463_477del (p.Thr155_Pro159del) | ClinVar dbSNP |
19 | g.13025279A>C | CA404314084 | NFIX | c.283A>C (p.Thr95Pro) c.104A>C c.286A>C (p.Thr96Pro) c.310A>C (p.Thr104Pro) c.295A>C (p.Thr99Pro) c.145A>C (p.Thr49Pro) c.262A>C (p.Thr88Pro) c.*117A>C (n.*117A>C) c.334A>C (p.Thr112Pro) c.463A>C (p.Thr155Pro) | |
19 | g.13025279A>G | CA404314085 | NFIX | c.283A>G (p.Thr95Ala) c.104A>G c.286A>G (p.Thr96Ala) c.310A>G (p.Thr104Ala) c.295A>G (p.Thr99Ala) c.145A>G (p.Thr49Ala) c.262A>G (p.Thr88Ala) c.*117A>G (n.*117A>G) c.334A>G (p.Thr112Ala) c.463A>G (p.Thr155Ala) | |
19 | g.13025279A>T | CA404314082 | NFIX | c.283A>T (p.Thr95Ser) c.104A>T c.286A>T (p.Thr96Ser) c.310A>T (p.Thr104Ser) c.295A>T (p.Thr99Ser) c.145A>T (p.Thr49Ser) c.262A>T (p.Thr88Ser) c.*117A>T (n.*117A>T) c.334A>T (p.Thr112Ser) c.463A>T (p.Thr155Ser) | |
19 | g.13025280C>A | CA404314087 | NFIX | c.284C>A (p.Thr95Lys) c.105C>A c.287C>A (p.Thr96Lys) c.311C>A (p.Thr104Lys) c.296C>A (p.Thr99Lys) c.146C>A (p.Thr49Lys) c.263C>A (p.Thr88Lys) c.*118C>A (n.*118C>A) c.335C>A (p.Thr112Lys) c.464C>A (p.Thr155Lys) | |
19 | g.13025280C>G | CA404314088 | NFIX | c.284C>G (p.Thr95Arg) c.105C>G c.287C>G (p.Thr96Arg) c.311C>G (p.Thr104Arg) c.296C>G (p.Thr99Arg) c.146C>G (p.Thr49Arg) c.263C>G (p.Thr88Arg) c.*118C>G (n.*118C>G) c.335C>G (p.Thr112Arg) c.464C>G (p.Thr155Arg) | ClinVar |
19 | g.13025280C>T | CA404314089 | NFIX | c.284C>T (p.Thr95Met) c.105C>T c.287C>T (p.Thr96Met) c.311C>T (p.Thr104Met) c.296C>T (p.Thr99Met) c.146C>T (p.Thr49Met) c.263C>T (p.Thr88Met) c.*118C>T (n.*118C>T) c.335C>T (p.Thr112Met) c.464C>T (p.Thr155Met) | |
19 | g.13025281G>A | CA9236968 | NFIX | c.285G>A (p.Thr95=) c.106G>A c.288G>A (p.Thr96=) c.312G>A (p.Thr104=) c.297G>A (p.Thr99=) c.147G>A (p.Thr49=) c.264G>A (p.Thr88=) c.*119G>A (n.*119G>A) c.336G>A (p.Thr112=) c.465G>A (p.Thr155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13025281G>C | CA505781124 | NFIX | c.285G>C (p.Thr95=) c.106G>C c.288G>C (p.Thr96=) c.312G>C (p.Thr104=) c.297G>C (p.Thr99=) c.147G>C (p.Thr49=) c.264G>C (p.Thr88=) c.*119G>C (n.*119G>C) c.336G>C (p.Thr112=) c.465G>C (p.Thr155=) | gnomAD v4 |
19 | g.13025281G= | CA2323688883 | NFIX | c.285G= (p.Thr95=) c.106G= c.288G= (p.Thr96=) c.312G= (p.Thr104=) c.297G= (p.Thr99=) c.147G= (p.Thr49=) c.264G= (p.Thr88=) c.*119G= (n.*119G=) c.336G= (p.Thr112=) c.465G= (p.Thr155=) | |
19 | g.13025281G>T | CA505781125 | NFIX | c.285G>T (p.Thr95=) c.106G>T c.288G>T (p.Thr96=) c.312G>T (p.Thr104=) c.297G>T (p.Thr99=) c.147G>T (p.Thr49=) c.264G>T (p.Thr88=) c.*119G>T (n.*119G>T) c.336G>T (p.Thr112=) c.465G>T (p.Thr155=) | |
19 | g.13025283del | CA2813656078 | NFIX | c.287del (p.Gly96AlafsTer?) c.108del c.290del (p.Gly97AlafsTer?) c.314del (p.Gly105AlafsTer?) c.299del (p.Gly100AlafsTer?) c.149del (p.Gly50AlafsTer?) c.266del (p.Gly89AlafsTer?) c.*121del (n.*121del) c.338del (p.Gly113AlafsTer?) c.467del (p.Gly156AlafsTer?) | |
19 | g.13025282G>A | CA404314094 | NFIX | c.286G>A (p.Gly96Ser) c.107G>A c.289G>A (p.Gly97Ser) c.313G>A (p.Gly105Ser) c.298G>A (p.Gly100Ser) c.148G>A (p.Gly50Ser) c.265G>A (p.Gly89Ser) c.*120G>A (n.*120G>A) c.337G>A (p.Gly113Ser) c.466G>A (p.Gly156Ser) | |
19 | g.13025282G>C | CA404314093 | NFIX | c.286G>C (p.Gly96Arg) c.107G>C c.289G>C (p.Gly97Arg) c.313G>C (p.Gly105Arg) c.298G>C (p.Gly100Arg) c.148G>C (p.Gly50Arg) c.265G>C (p.Gly89Arg) c.*120G>C (n.*120G>C) c.337G>C (p.Gly113Arg) c.466G>C (p.Gly156Arg) | |
19 | g.13025282G>T | CA404314092 | NFIX | c.286G>T (p.Gly96Cys) c.107G>T c.289G>T (p.Gly97Cys) c.313G>T (p.Gly105Cys) c.298G>T (p.Gly100Cys) c.148G>T (p.Gly50Cys) c.265G>T (p.Gly89Cys) c.*120G>T (n.*120G>T) c.337G>T (p.Gly113Cys) c.466G>T (p.Gly156Cys) | |
19 | g.13025283G>A | CA404314095 | NFIX | c.287G>A (p.Gly96Asp) c.108G>A c.290G>A (p.Gly97Asp) c.314G>A (p.Gly105Asp) c.299G>A (p.Gly100Asp) c.149G>A (p.Gly50Asp) c.266G>A (p.Gly89Asp) c.*121G>A (n.*121G>A) c.338G>A (p.Gly113Asp) c.467G>A (p.Gly156Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13025283G>C | CA404314096 | NFIX | c.287G>C (p.Gly96Ala) c.108G>C c.290G>C (p.Gly97Ala) c.314G>C (p.Gly105Ala) c.299G>C (p.Gly100Ala) c.149G>C (p.Gly50Ala) c.266G>C (p.Gly89Ala) c.*121G>C (n.*121G>C) c.338G>C (p.Gly113Ala) c.467G>C (p.Gly156Ala) | |
19 | g.13025283G= | CA2323688884 | NFIX | c.287G= (p.Gly96=) c.108G= c.290G= (p.Gly97=) c.314G= (p.Gly105=) c.299G= (p.Gly100=) c.149G= (p.Gly50=) c.266G= (p.Gly89=) c.*121G= (n.*121G=) c.338G= (p.Gly113=) c.467G= (p.Gly156=) | |
19 | g.13025283G>T | CA404314098 | NFIX | c.287G>T (p.Gly96Val) c.108G>T c.290G>T (p.Gly97Val) c.314G>T (p.Gly105Val) c.299G>T (p.Gly100Val) c.149G>T (p.Gly50Val) c.266G>T (p.Gly89Val) c.*121G>T (n.*121G>T) c.338G>T (p.Gly113Val) c.467G>T (p.Gly156Val) | |
19 | g.13025284C>A | CA505781129 | NFIX | c.288C>A (p.Gly96=) c.109C>A c.291C>A (p.Gly97=) c.315C>A (p.Gly105=) c.300C>A (p.Gly100=) c.150C>A (p.Gly50=) c.267C>A (p.Gly89=) c.*122C>A (n.*122C>A) c.339C>A (p.Gly113=) c.468C>A (p.Gly156=) | |
19 | g.13025284C>G | CA505781130 | NFIX | c.288C>G (p.Gly96=) c.109C>G c.291C>G (p.Gly97=) c.315C>G (p.Gly105=) c.300C>G (p.Gly100=) c.150C>G (p.Gly50=) c.267C>G (p.Gly89=) c.*122C>G (n.*122C>G) c.339C>G (p.Gly113=) c.468C>G (p.Gly156=) | |
19 | g.13025284C>T | CA505781131 | NFIX | c.288C>T (p.Gly96=) c.109C>T c.291C>T (p.Gly97=) c.315C>T (p.Gly105=) c.300C>T (p.Gly100=) c.150C>T (p.Gly50=) c.267C>T (p.Gly89=) c.*122C>T (n.*122C>T) c.339C>T (p.Gly113=) c.468C>T (p.Gly156=) | |
19 | g.13025285A>C | CA404314100 | NFIX | c.289A>C (p.Lys97Gln) c.110A>C c.292A>C (p.Lys98Gln) c.316A>C (p.Lys106Gln) c.301A>C (p.Lys101Gln) c.151A>C (p.Lys51Gln) c.268A>C (p.Lys90Gln) c.*123A>C (n.*123A>C) c.340A>C (p.Lys114Gln) c.469A>C (p.Lys157Gln) | |
19 | g.13025285A>G | CA404314102 | NFIX | c.289A>G (p.Lys97Glu) c.110A>G c.292A>G (p.Lys98Glu) c.316A>G (p.Lys106Glu) c.301A>G (p.Lys101Glu) c.151A>G (p.Lys51Glu) c.268A>G (p.Lys90Glu) c.*123A>G (n.*123A>G) c.340A>G (p.Lys114Glu) c.469A>G (p.Lys157Glu) | |
19 | g.13025285A>T | CA404314104 | NFIX | c.289A>T (p.Lys97Ter) c.110A>T c.292A>T (p.Lys98Ter) c.316A>T (p.Lys106Ter) c.301A>T (p.Lys101Ter) c.151A>T (p.Lys51Ter) c.268A>T (p.Lys90Ter) c.*123A>T (n.*123A>T) c.340A>T (p.Lys114Ter) c.469A>T (p.Lys157Ter) | |
19 | g.13025286del | CA2813656081 | NFIX | c.290del (p.Lys97ArgfsTer?) c.111del c.293del (p.Lys98ArgfsTer?) c.317del (p.Lys106ArgfsTer?) c.302del (p.Lys101ArgfsTer?) c.152del (p.Lys51ArgfsTer?) c.269del (p.Lys90ArgfsTer?) c.*124del (n.*124del) c.341del (p.Lys114ArgfsTer?) c.470del (p.Lys157ArgfsTer?) | |
19 | g.13025286A= | CA2323688885 | NFIX | c.290A= (p.Lys97=) c.111A= c.293A= (p.Lys98=) c.317A= (p.Lys106=) c.302A= (p.Lys101=) c.152A= (p.Lys51=) c.269A= (p.Lys90=) c.*124A= (n.*124A=) c.341A= (p.Lys114=) c.470A= (p.Lys157=) | |
19 | g.13025286A>C | CA404314108 | NFIX | c.290A>C (p.Lys97Thr) c.111A>C c.293A>C (p.Lys98Thr) c.317A>C (p.Lys106Thr) c.302A>C (p.Lys101Thr) c.152A>C (p.Lys51Thr) c.269A>C (p.Lys90Thr) c.*124A>C (n.*124A>C) c.341A>C (p.Lys114Thr) c.470A>C (p.Lys157Thr) | |
19 | g.13025286A>G | CA9236969 | NFIX | c.290A>G (p.Lys97Arg) c.111A>G c.293A>G (p.Lys98Arg) c.317A>G (p.Lys106Arg) c.302A>G (p.Lys101Arg) c.152A>G (p.Lys51Arg) c.269A>G (p.Lys90Arg) c.*124A>G (n.*124A>G) c.341A>G (p.Lys114Arg) c.470A>G (p.Lys157Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13025286A>T | CA404314110 | NFIX | c.290A>T (p.Lys97Met) c.111A>T c.293A>T (p.Lys98Met) c.317A>T (p.Lys106Met) c.302A>T (p.Lys101Met) c.152A>T (p.Lys51Met) c.269A>T (p.Lys90Met) c.*124A>T (n.*124A>T) c.341A>T (p.Lys114Met) c.470A>T (p.Lys157Met) | |
19 | g.13025287G>A | CA9236970 | NFIX | c.291G>A (p.Lys97=) c.112G>A c.294G>A (p.Lys98=) c.318G>A (p.Lys106=) c.303G>A (p.Lys101=) c.153G>A (p.Lys51=) c.270G>A (p.Lys90=) c.*125G>A (n.*125G>A) c.342G>A (p.Lys114=) c.471G>A (p.Lys157=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13025287G>C | CA404314115 | NFIX | c.291G>C (p.Lys97Asn) c.112G>C c.294G>C (p.Lys98Asn) c.318G>C (p.Lys106Asn) c.303G>C (p.Lys101Asn) c.153G>C (p.Lys51Asn) c.270G>C (p.Lys90Asn) c.*125G>C (n.*125G>C) c.342G>C (p.Lys114Asn) c.471G>C (p.Lys157Asn) | |
19 | g.13025287G= | CA2323688886 | NFIX | c.291G= (p.Lys97=) c.112G= c.294G= (p.Lys98=) c.318G= (p.Lys106=) c.303G= (p.Lys101=) c.153G= (p.Lys51=) c.270G= (p.Lys90=) c.*125G= (n.*125G=) c.342G= (p.Lys114=) c.471G= (p.Lys157=) | |
19 | g.13025287G>T | CA404314117 | NFIX | c.291G>T (p.Lys97Asn) c.112G>T c.294G>T (p.Lys98Asn) c.318G>T (p.Lys106Asn) c.303G>T (p.Lys101Asn) c.153G>T (p.Lys51Asn) c.270G>T (p.Lys90Asn) c.*125G>T (n.*125G>T) c.342G>T (p.Lys114Asn) c.471G>T (p.Lys157Asn) | |
19 | g.13025288A>C | CA404314120 | NFIX | c.292A>C (p.Lys98Gln) c.113A>C c.295A>C (p.Lys99Gln) c.319A>C (p.Lys107Gln) c.304A>C (p.Lys102Gln) c.154A>C (p.Lys52Gln) c.271A>C (p.Lys91Gln) c.*126A>C (n.*126A>C) c.343A>C (p.Lys115Gln) c.472A>C (p.Lys158Gln) | |
19 | g.13025288A>G | CA404314122 | NFIX | c.292A>G (p.Lys98Glu) c.113A>G c.295A>G (p.Lys99Glu) c.319A>G (p.Lys107Glu) c.304A>G (p.Lys102Glu) c.154A>G (p.Lys52Glu) c.271A>G (p.Lys91Glu) c.*126A>G (n.*126A>G) c.343A>G (p.Lys115Glu) c.472A>G (p.Lys158Glu) | |
19 | g.13025288A>T | CA404314124 | NFIX | c.292A>T (p.Lys98Ter) c.113A>T c.295A>T (p.Lys99Ter) c.319A>T (p.Lys107Ter) c.304A>T (p.Lys102Ter) c.154A>T (p.Lys52Ter) c.271A>T (p.Lys91Ter) c.*126A>T (n.*126A>T) c.343A>T (p.Lys115Ter) c.472A>T (p.Lys158Ter) | |
19 | g.13025289A= | CA2323688887 | NFIX | c.293A= (p.Lys98=) c.114A= c.296A= (p.Lys99=) c.320A= (p.Lys107=) c.305A= (p.Lys102=) c.155A= (p.Lys52=) c.272A= (p.Lys91=) c.*127A= (n.*127A=) c.344A= (p.Lys115=) c.473A= (p.Lys158=) | |
19 | g.13025289A>C | CA404314125 | NFIX | c.293A>C (p.Lys98Thr) c.114A>C c.296A>C (p.Lys99Thr) c.320A>C (p.Lys107Thr) c.305A>C (p.Lys102Thr) c.155A>C (p.Lys52Thr) c.272A>C (p.Lys91Thr) c.*127A>C (n.*127A>C) c.344A>C (p.Lys115Thr) c.473A>C (p.Lys158Thr) | |
19 | g.13025289A>G | CA9236971 | NFIX | c.293A>G (p.Lys98Arg) c.114A>G c.296A>G (p.Lys99Arg) c.320A>G (p.Lys107Arg) c.305A>G (p.Lys102Arg) c.155A>G (p.Lys52Arg) c.272A>G (p.Lys91Arg) c.*127A>G (n.*127A>G) c.344A>G (p.Lys115Arg) c.473A>G (p.Lys158Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13025289A>T | CA404314129 | NFIX | c.293A>T (p.Lys98Met) c.114A>T c.296A>T (p.Lys99Met) c.320A>T (p.Lys107Met) c.305A>T (p.Lys102Met) c.155A>T (p.Lys52Met) c.272A>T (p.Lys91Met) c.*127A>T (n.*127A>T) c.344A>T (p.Lys115Met) c.473A>T (p.Lys158Met) | |
19 | g.13025290G>A | CA505781144 | NFIX | c.294G>A (p.Lys98=) c.115G>A c.297G>A (p.Lys99=) c.321G>A (p.Lys107=) c.306G>A (p.Lys102=) c.156G>A (p.Lys52=) c.273G>A (p.Lys91=) c.*128G>A (n.*128G>A) c.345G>A (p.Lys115=) c.474G>A (p.Lys158=) | |
19 | g.13025290G>C | CA404314131 | NFIX | c.294G>C (p.Lys98Asn) c.115G>C c.297G>C (p.Lys99Asn) c.321G>C (p.Lys107Asn) c.306G>C (p.Lys102Asn) c.156G>C (p.Lys52Asn) c.273G>C (p.Lys91Asn) c.*128G>C (n.*128G>C) c.345G>C (p.Lys115Asn) c.474G>C (p.Lys158Asn) | |
19 | g.13025290G>T | CA404314133 | NFIX | c.294G>T (p.Lys98Asn) c.115G>T c.297G>T (p.Lys99Asn) c.321G>T (p.Lys107Asn) c.306G>T (p.Lys102Asn) c.156G>T (p.Lys52Asn) c.273G>T (p.Lys91Asn) c.*128G>T (n.*128G>T) c.345G>T (p.Lys115Asn) c.474G>T (p.Lys158Asn) | |
19 | g.13025290_13025291delinsGC | CA2323688888 | NFIX | c.294_295delinsGC (p.Lys98=) c.115_116delinsGC c.297_298delinsGC (p.Lys99=) c.321_322delinsGC (p.Lys107=) c.306_307delinsGC (p.Lys102=) c.156_157delinsGC (p.Lys52=) c.273_274delinsGC (p.Lys91=) c.*128_*129delinsGC (n.*128_*129delinsGC) c.345_346delinsGC (p.Lys115=) c.474_475delinsGC (p.Lys158=) | |
19 | g.13025291C>A | CA404314142 | NFIX | c.295C>A (p.Pro99Thr) c.116C>A c.298C>A (p.Pro100Thr) c.322C>A (p.Pro108Thr) c.307C>A (p.Pro103Thr) c.157C>A (p.Pro53Thr) c.274C>A (p.Pro92Thr) c.*129C>A (n.*129C>A) c.346C>A (p.Pro116Thr) c.475C>A (p.Pro159Thr) | |
19 | g.13025291C>G | CA404314138 | NFIX | c.295C>G (p.Pro99Ala) c.116C>G c.298C>G (p.Pro100Ala) c.322C>G (p.Pro108Ala) c.307C>G (p.Pro103Ala) c.157C>G (p.Pro53Ala) c.274C>G (p.Pro92Ala) c.*129C>G (n.*129C>G) c.346C>G (p.Pro116Ala) c.475C>G (p.Pro159Ala) | gnomAD v4 |
19 | g.13025291C>T | CA404314140 | NFIX | c.295C>T (p.Pro99Ser) c.116C>T c.298C>T (p.Pro100Ser) c.322C>T (p.Pro108Ser) c.307C>T (p.Pro103Ser) c.157C>T (p.Pro53Ser) c.274C>T (p.Pro92Ser) c.*129C>T (n.*129C>T) c.346C>T (p.Pro116Ser) c.475C>T (p.Pro159Ser) | gnomAD v4 |
19 | g.13025296dup | CA915952540 | NFIX | c.300dup (p.Cys101LeufsTer17) c.121dup c.303dup (p.Cys102LeufsTer17) c.327dup (p.Cys110LeufsTer17) c.312dup (p.Cys105LeufsTer17) c.162dup (p.Cys55LeufsTer17) c.279dup (p.Cys94LeufsTer17) c.*134dup (n.*134dup) c.351dup (p.Cys118LeufsTer17) c.480dup (p.Cys161LeufsTer17) | ClinVar dbSNP |
19 | g.13025296del | CA10603507 | NFIX | c.300del (p.Cys101AlafsTer?) c.121del c.303del (p.Cys102AlafsTer?) c.327del (p.Cys110AlafsTer?) c.312del (p.Cys105AlafsTer?) c.162del (p.Cys55AlafsTer?) c.279del (p.Cys94AlafsTer?) c.*134del (n.*134del) c.351del (p.Cys118AlafsTer?) c.480del (p.Cys161AlafsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
19 | g.13025292C>A | CA404314144 | NFIX | c.296C>A (p.Pro99His) c.117C>A c.299C>A (p.Pro100His) c.323C>A (p.Pro108His) c.308C>A (p.Pro103His) c.158C>A (p.Pro53His) c.275C>A (p.Pro92His) c.*130C>A (n.*130C>A) c.347C>A (p.Pro116His) c.476C>A (p.Pro159His) | |
19 | g.13025292C>G | CA404314146 | NFIX | c.296C>G (p.Pro99Arg) c.117C>G c.299C>G (p.Pro100Arg) c.323C>G (p.Pro108Arg) c.308C>G (p.Pro103Arg) c.158C>G (p.Pro53Arg) c.275C>G (p.Pro92Arg) c.*130C>G (n.*130C>G) c.347C>G (p.Pro116Arg) c.476C>G (p.Pro159Arg) | |
19 | g.13025292C>T | CA404314148 | NFIX | c.296C>T (p.Pro99Leu) c.117C>T c.299C>T (p.Pro100Leu) c.323C>T (p.Pro108Leu) c.308C>T (p.Pro103Leu) c.158C>T (p.Pro53Leu) c.275C>T (p.Pro92Leu) c.*130C>T (n.*130C>T) c.347C>T (p.Pro116Leu) c.476C>T (p.Pro159Leu) | |
19 | g.13025293C>A | CA505781149 | NFIX | c.297C>A (p.Pro99=) c.118C>A c.300C>A (p.Pro100=) c.324C>A (p.Pro108=) c.309C>A (p.Pro103=) c.159C>A (p.Pro53=) c.276C>A (p.Pro92=) c.*131C>A (n.*131C>A) c.348C>A (p.Pro116=) c.477C>A (p.Pro159=) | |
19 | g.13025293C= | CA2323688889 | NFIX | c.297C= (p.Pro99=) c.118C= c.300C= (p.Pro100=) c.324C= (p.Pro108=) c.309C= (p.Pro103=) c.159C= (p.Pro53=) c.276C= (p.Pro92=) c.*131C= (n.*131C=) c.348C= (p.Pro116=) c.477C= (p.Pro159=) | |
19 | g.13025293C>G | CA9236972 | NFIX | c.297C>G (p.Pro99=) c.118C>G c.300C>G (p.Pro100=) c.324C>G (p.Pro108=) c.309C>G (p.Pro103=) c.159C>G (p.Pro53=) c.276C>G (p.Pro92=) c.*131C>G (n.*131C>G) c.348C>G (p.Pro116=) c.477C>G (p.Pro159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13025293C>T | CA9236973 | NFIX | c.297C>T (p.Pro99=) c.118C>T c.300C>T (p.Pro100=) c.324C>T (p.Pro108=) c.309C>T (p.Pro103=) c.159C>T (p.Pro53=) c.276C>T (p.Pro92=) c.*131C>T (n.*131C>T) c.348C>T (p.Pro116=) c.477C>T (p.Pro159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13025294C>A | CA404314155 | NFIX | c.298C>A (p.Pro100Thr) c.119C>A c.301C>A (p.Pro101Thr) c.325C>A (p.Pro109Thr) c.310C>A (p.Pro104Thr) c.160C>A (p.Pro54Thr) c.277C>A (p.Pro93Thr) c.*132C>A (n.*132C>A) c.349C>A (p.Pro117Thr) c.478C>A (p.Pro160Thr) | |
19 | g.13025294C>G | CA404314157 | NFIX | c.298C>G (p.Pro100Ala) c.119C>G c.301C>G (p.Pro101Ala) c.325C>G (p.Pro109Ala) c.310C>G (p.Pro104Ala) c.160C>G (p.Pro54Ala) c.277C>G (p.Pro93Ala) c.*132C>G (n.*132C>G) c.349C>G (p.Pro117Ala) c.478C>G (p.Pro160Ala) | |
19 | g.13025294C>T | CA404314159 | NFIX | c.298C>T (p.Pro100Ser) c.119C>T c.301C>T (p.Pro101Ser) c.325C>T (p.Pro109Ser) c.310C>T (p.Pro104Ser) c.160C>T (p.Pro54Ser) c.277C>T (p.Pro93Ser) c.*132C>T (n.*132C>T) c.349C>T (p.Pro117Ser) c.478C>T (p.Pro160Ser) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13025295C>A | CA404314162 | NFIX | c.299C>A (p.Pro100His) c.120C>A c.302C>A (p.Pro101His) c.326C>A (p.Pro109His) c.311C>A (p.Pro104His) c.161C>A (p.Pro54His) c.278C>A (p.Pro93His) c.*133C>A (n.*133C>A) c.350C>A (p.Pro117His) c.479C>A (p.Pro160His) | |
19 | g.13025295C>G | CA404314163 | NFIX | c.299C>G (p.Pro100Arg) c.120C>G c.302C>G (p.Pro101Arg) c.326C>G (p.Pro109Arg) c.311C>G (p.Pro104Arg) c.161C>G (p.Pro54Arg) c.278C>G (p.Pro93Arg) c.*133C>G (n.*133C>G) c.350C>G (p.Pro117Arg) c.479C>G (p.Pro160Arg) | gnomAD v4 |
19 | g.13025295C>T | CA404314165 | NFIX | c.299C>T (p.Pro100Leu) c.120C>T c.302C>T (p.Pro101Leu) c.326C>T (p.Pro109Leu) c.311C>T (p.Pro104Leu) c.161C>T (p.Pro54Leu) c.278C>T (p.Pro93Leu) c.*133C>T (n.*133C>T) c.350C>T (p.Pro117Leu) c.479C>T (p.Pro160Leu) | COSMIC COSMIC COSMIC |
19 | g.13025296C>A | CA505781163 | NFIX | c.300C>A (p.Pro100=) c.121C>A c.303C>A (p.Pro101=) c.327C>A (p.Pro109=) c.312C>A (p.Pro104=) c.162C>A (p.Pro54=) c.279C>A (p.Pro93=) c.*134C>A (n.*134C>A) c.351C>A (p.Pro117=) c.480C>A (p.Pro160=) | |
19 | g.13025296C= | CA2323688890 | NFIX | c.300C= (p.Pro100=) c.121C= c.303C= (p.Pro101=) c.327C= (p.Pro109=) c.312C= (p.Pro104=) c.162C= (p.Pro54=) c.279C= (p.Pro93=) c.*134C= (n.*134C=) c.351C= (p.Pro117=) c.480C= (p.Pro160=) | |
19 | g.13025296C>G | CA9236974 | NFIX | c.300C>G (p.Pro100=) c.121C>G c.303C>G (p.Pro101=) c.327C>G (p.Pro109=) c.312C>G (p.Pro104=) c.162C>G (p.Pro54=) c.279C>G (p.Pro93=) c.*134C>G (n.*134C>G) c.351C>G (p.Pro117=) c.480C>G (p.Pro160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13025296C>T | CA505781168 | NFIX | c.300C>T (p.Pro100=) c.121C>T c.303C>T (p.Pro101=) c.327C>T (p.Pro109=) c.312C>T (p.Pro104=) c.162C>T (p.Pro54=) c.279C>T (p.Pro93=) c.*134C>T (n.*134C>T) c.351C>T (p.Pro117=) c.480C>T (p.Pro160=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13025297T>A | CA404314172 | NFIX | c.301T>A (p.Cys101Ser) c.122T>A c.304T>A (p.Cys102Ser) c.328T>A (p.Cys110Ser) c.313T>A (p.Cys105Ser) c.163T>A (p.Cys55Ser) c.280T>A (p.Cys94Ser) c.*135T>A (n.*135T>A) c.352T>A (p.Cys118Ser) c.481T>A (p.Cys161Ser) | gnomAD v4 |
19 | g.13025297T>C | CA404314170 | NFIX | c.301T>C (p.Cys101Arg) c.122T>C c.304T>C (p.Cys102Arg) c.328T>C (p.Cys110Arg) c.313T>C (p.Cys105Arg) c.163T>C (p.Cys55Arg) c.280T>C (p.Cys94Arg) c.*135T>C (n.*135T>C) c.352T>C (p.Cys118Arg) c.481T>C (p.Cys161Arg) | |
19 | g.13025297T>G | CA404314167 | NFIX | c.301T>G (p.Cys101Gly) c.122T>G c.304T>G (p.Cys102Gly) c.328T>G (p.Cys110Gly) c.313T>G (p.Cys105Gly) c.163T>G (p.Cys55Gly) c.280T>G (p.Cys94Gly) c.*135T>G (n.*135T>G) c.352T>G (p.Cys118Gly) c.481T>G (p.Cys161Gly) | |
19 | g.13025298G>A | CA404314174 | NFIX | c.302G>A (p.Cys101Tyr) c.123G>A c.305G>A (p.Cys102Tyr) c.329G>A (p.Cys110Tyr) c.314G>A (p.Cys105Tyr) c.164G>A (p.Cys55Tyr) c.281G>A (p.Cys94Tyr) c.*136G>A (n.*136G>A) c.353G>A (p.Cys118Tyr) c.482G>A (p.Cys161Tyr) | |
19 | g.13025298G>C | CA404314176 | NFIX | c.302G>C (p.Cys101Ser) c.123G>C c.305G>C (p.Cys102Ser) c.329G>C (p.Cys110Ser) c.314G>C (p.Cys105Ser) c.164G>C (p.Cys55Ser) c.281G>C (p.Cys94Ser) c.*136G>C (n.*136G>C) c.353G>C (p.Cys118Ser) c.482G>C (p.Cys161Ser) | |
19 | g.13025298G>T | CA404314178 | NFIX | c.302G>T (p.Cys101Phe) c.123G>T c.305G>T (p.Cys102Phe) c.329G>T (p.Cys110Phe) c.314G>T (p.Cys105Phe) c.164G>T (p.Cys55Phe) c.281G>T (p.Cys94Phe) c.*136G>T (n.*136G>T) c.353G>T (p.Cys118Phe) c.482G>T (p.Cys161Phe) | |
19 | g.13025299C>A | CA404314180 | NFIX | c.303C>A (p.Cys101Ter) c.124C>A c.306C>A (p.Cys102Ter) c.330C>A (p.Cys110Ter) c.315C>A (p.Cys105Ter) c.165C>A (p.Cys55Ter) c.282C>A (p.Cys94Ter) c.*137C>A (n.*137C>A) c.354C>A (p.Cys118Ter) c.483C>A (p.Cys161Ter) | |
19 | g.13025299C= | CA2323688891 | NFIX | c.303C= (p.Cys101=) c.124C= c.306C= (p.Cys102=) c.330C= (p.Cys110=) c.315C= (p.Cys105=) c.165C= (p.Cys55=) c.282C= (p.Cys94=) c.*137C= (n.*137C=) c.354C= (p.Cys118=) c.483C= (p.Cys161=) | |
19 | g.13025299C>G | CA404314182 | NFIX | c.303C>G (p.Cys101Trp) c.124C>G c.306C>G (p.Cys102Trp) c.330C>G (p.Cys110Trp) c.315C>G (p.Cys105Trp) c.165C>G (p.Cys55Trp) c.282C>G (p.Cys94Trp) c.*137C>G (n.*137C>G) c.354C>G (p.Cys118Trp) c.483C>G (p.Cys161Trp) | |
19 | g.13025299C>T | CA505781186 | NFIX | c.303C>T (p.Cys101=) c.124C>T c.306C>T (p.Cys102=) c.330C>T (p.Cys110=) c.315C>T (p.Cys105=) c.165C>T (p.Cys55=) c.282C>T (p.Cys94=) c.*137C>T (n.*137C>T) c.354C>T (p.Cys118=) c.483C>T (p.Cys161=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13025300T>A | CA404314184 | NFIX | c.304T>A (p.Cys102Ser) c.125T>A c.307T>A (p.Cys103Ser) c.331T>A (p.Cys111Ser) c.316T>A (p.Cys106Ser) c.166T>A (p.Cys56Ser) c.283T>A (p.Cys95Ser) c.*138T>A (n.*138T>A) c.355T>A (p.Cys119Ser) c.484T>A (p.Cys162Ser) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13025300T>C | CA404314185 | NFIX | c.304T>C (p.Cys102Arg) c.125T>C c.307T>C (p.Cys103Arg) c.331T>C (p.Cys111Arg) c.316T>C (p.Cys106Arg) c.166T>C (p.Cys56Arg) c.283T>C (p.Cys95Arg) c.*138T>C (n.*138T>C) c.355T>C (p.Cys119Arg) c.484T>C (p.Cys162Arg) | |
19 | g.13025300T>G | CA404314187 | NFIX | c.304T>G (p.Cys102Gly) c.125T>G c.307T>G (p.Cys103Gly) c.331T>G (p.Cys111Gly) c.316T>G (p.Cys106Gly) c.166T>G (p.Cys56Gly) c.283T>G (p.Cys95Gly) c.*138T>G (n.*138T>G) c.355T>G (p.Cys119Gly) c.484T>G (p.Cys162Gly) | |
19 | g.13025301G>A | CA404314190 | NFIX | c.305G>A (p.Cys102Tyr) c.126G>A c.308G>A (p.Cys103Tyr) c.332G>A (p.Cys111Tyr) c.317G>A (p.Cys106Tyr) c.167G>A (p.Cys56Tyr) c.284G>A (p.Cys95Tyr) c.*139G>A (n.*139G>A) c.356G>A (p.Cys119Tyr) c.485G>A (p.Cys162Tyr) | |
19 | g.13025301G>C | CA404314192 | NFIX | c.305G>C (p.Cys102Ser) c.126G>C c.308G>C (p.Cys103Ser) c.332G>C (p.Cys111Ser) c.317G>C (p.Cys106Ser) c.167G>C (p.Cys56Ser) c.284G>C (p.Cys95Ser) c.*139G>C (n.*139G>C) c.356G>C (p.Cys119Ser) c.485G>C (p.Cys162Ser) | |
19 | g.13025301G>T | CA404314194 | NFIX | c.305G>T (p.Cys102Phe) c.126G>T c.308G>T (p.Cys103Phe) c.332G>T (p.Cys111Phe) c.317G>T (p.Cys106Phe) c.167G>T (p.Cys56Phe) c.284G>T (p.Cys95Phe) c.*139G>T (n.*139G>T) c.356G>T (p.Cys119Phe) c.485G>T (p.Cys162Phe) | |
19 | g.13025302C>A | CA404314200 | NFIX | c.306C>A (p.Cys102Ter) c.127C>A c.309C>A (p.Cys103Ter) c.333C>A (p.Cys111Ter) c.318C>A (p.Cys106Ter) c.168C>A (p.Cys56Ter) c.285C>A (p.Cys95Ter) c.*140C>A (n.*140C>A) c.357C>A (p.Cys119Ter) c.486C>A (p.Cys162Ter) | |
19 | g.13025302C= | CA2323688892 | NFIX | c.306C= (p.Cys102=) c.127C= c.309C= (p.Cys103=) c.333C= (p.Cys111=) c.318C= (p.Cys106=) c.168C= (p.Cys56=) c.285C= (p.Cys95=) c.*140C= (n.*140C=) c.357C= (p.Cys119=) c.486C= (p.Cys162=) | |
19 | g.13025302C>G | CA404314207 | NFIX | c.306C>G (p.Cys102Trp) c.127C>G c.309C>G (p.Cys103Trp) c.333C>G (p.Cys111Trp) c.318C>G (p.Cys106Trp) c.168C>G (p.Cys56Trp) c.285C>G (p.Cys95Trp) c.*140C>G (n.*140C>G) c.357C>G (p.Cys119Trp) c.486C>G (p.Cys162Trp) | ClinVar dbSNP |
19 | g.13025302C>T | CA305548254 | NFIX | c.306C>T (p.Cys102=) c.127C>T c.309C>T (p.Cys103=) c.333C>T (p.Cys111=) c.318C>T (p.Cys106=) c.168C>T (p.Cys56=) c.285C>T (p.Cys95=) c.*140C>T (n.*140C>T) c.357C>T (p.Cys119=) c.486C>T (p.Cys162=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13025303G>A | CA404314210 | NFIX | c.307G>A (p.Val103Met) c.128G>A c.310G>A (p.Val104Met) c.334G>A (p.Val112Met) c.319G>A (p.Val107Met) c.169G>A (p.Val57Met) c.286G>A (p.Val96Met) c.*141G>A (n.*141G>A) c.358G>A (p.Val120Met) c.487G>A (p.Val163Met) | |
19 | g.13025303G>C | CA404314211 | NFIX | c.307G>C (p.Val103Leu) c.128G>C c.310G>C (p.Val104Leu) c.334G>C (p.Val112Leu) c.319G>C (p.Val107Leu) c.169G>C (p.Val57Leu) c.286G>C (p.Val96Leu) c.*141G>C (n.*141G>C) c.358G>C (p.Val120Leu) c.487G>C (p.Val163Leu) | |
19 | g.13025303G= | CA2323688893 | NFIX | c.307G= (p.Val103=) c.128G= c.310G= (p.Val104=) c.334G= (p.Val112=) c.319G= (p.Val107=) c.169G= (p.Val57=) c.286G= (p.Val96=) c.*141G= (n.*141G=) c.358G= (p.Val120=) c.487G= (p.Val163=) | |
19 | g.13025303G>T | CA305548256 | NFIX | c.307G>T (p.Val103Leu) c.128G>T c.310G>T (p.Val104Leu) c.334G>T (p.Val112Leu) c.319G>T (p.Val107Leu) c.169G>T (p.Val57Leu) c.286G>T (p.Val96Leu) c.*141G>T (n.*141G>T) c.358G>T (p.Val120Leu) c.487G>T (p.Val163Leu) | dbSNP gnomAD v2 |
19 | g.13025304T>A | CA404314212 | NFIX | c.308T>A (p.Val103Glu) c.129T>A c.311T>A (p.Val104Glu) c.335T>A (p.Val112Glu) c.320T>A (p.Val107Glu) c.170T>A (p.Val57Glu) c.287T>A (p.Val96Glu) c.*142T>A (n.*142T>A) c.359T>A (p.Val120Glu) c.488T>A (p.Val163Glu) | |
19 | g.13025304T>C | CA404314213 | NFIX | c.308T>C (p.Val103Ala) c.129T>C c.311T>C (p.Val104Ala) c.335T>C (p.Val112Ala) c.320T>C (p.Val107Ala) c.170T>C (p.Val57Ala) c.287T>C (p.Val96Ala) c.*142T>C (n.*142T>C) c.359T>C (p.Val120Ala) c.488T>C (p.Val163Ala) | gnomAD v4 |
19 | g.13025304T>G | CA404314214 | NFIX | c.308T>G (p.Val103Gly) c.129T>G c.311T>G (p.Val104Gly) c.335T>G (p.Val112Gly) c.320T>G (p.Val107Gly) c.170T>G (p.Val57Gly) c.287T>G (p.Val96Gly) c.*142T>G (n.*142T>G) c.359T>G (p.Val120Gly) c.488T>G (p.Val163Gly) | |
19 | g.13025305G>A | CA505781205 | NFIX | c.309G>A (p.Val103=) c.130G>A c.312G>A (p.Val104=) c.336G>A (p.Val112=) c.321G>A (p.Val107=) c.171G>A (p.Val57=) c.288G>A (p.Val96=) c.*143G>A (n.*143G>A) c.360G>A (p.Val120=) c.489G>A (p.Val163=) | |
19 | g.13025305G>C | CA505781206 | NFIX | c.309G>C (p.Val103=) c.130G>C c.312G>C (p.Val104=) c.336G>C (p.Val112=) c.321G>C (p.Val107=) c.171G>C (p.Val57=) c.288G>C (p.Val96=) c.*143G>C (n.*143G>C) c.360G>C (p.Val120=) c.489G>C (p.Val163=) | |
19 | g.13025305G>T | CA505781207 | NFIX | c.309G>T (p.Val103=) c.130G>T c.312G>T (p.Val104=) c.336G>T (p.Val112=) c.321G>T (p.Val107=) c.171G>T (p.Val57=) c.288G>T (p.Val96=) c.*143G>T (n.*143G>T) c.360G>T (p.Val120=) c.489G>T (p.Val163=) | |
19 | g.13025306C>A | CA404314216 | NFIX | c.310C>A (p.Leu104Ile) c.131C>A c.313C>A (p.Leu105Ile) c.337C>A (p.Leu113Ile) c.322C>A (p.Leu108Ile) c.172C>A (p.Leu58Ile) c.289C>A (p.Leu97Ile) c.*144C>A (n.*144C>A) c.361C>A (p.Leu121Ile) c.490C>A (p.Leu164Ile) | |
19 | g.13025306C>G | CA404314217 | NFIX | c.310C>G (p.Leu104Val) c.131C>G c.313C>G (p.Leu105Val) c.337C>G (p.Leu113Val) c.322C>G (p.Leu108Val) c.172C>G (p.Leu58Val) c.289C>G (p.Leu97Val) c.*144C>G (n.*144C>G) c.361C>G (p.Leu121Val) c.490C>G (p.Leu164Val) | |
19 | g.13025306C>T | CA404314218 | NFIX | c.310C>T (p.Leu104Phe) c.131C>T c.313C>T (p.Leu105Phe) c.337C>T (p.Leu113Phe) c.322C>T (p.Leu108Phe) c.172C>T (p.Leu58Phe) c.289C>T (p.Leu97Phe) c.*144C>T (n.*144C>T) c.361C>T (p.Leu121Phe) c.490C>T (p.Leu164Phe) | |
19 | g.13025307T>A | CA404314219 | NFIX | c.311T>A (p.Leu104His) c.132T>A c.314T>A (p.Leu105His) c.338T>A (p.Leu113His) c.323T>A (p.Leu108His) c.173T>A (p.Leu58His) c.290T>A (p.Leu97His) c.*145T>A (n.*145T>A) c.362T>A (p.Leu121His) c.491T>A (p.Leu164His) | |
19 | g.13025307T>C | CA404314220 | NFIX | c.311T>C (p.Leu104Pro) c.132T>C c.314T>C (p.Leu105Pro) c.338T>C (p.Leu113Pro) c.323T>C (p.Leu108Pro) c.173T>C (p.Leu58Pro) c.290T>C (p.Leu97Pro) c.*145T>C (n.*145T>C) c.362T>C (p.Leu121Pro) c.491T>C (p.Leu164Pro) | |
19 | g.13025307T>G | CA404314223 | NFIX | c.311T>G (p.Leu104Arg) c.132T>G c.314T>G (p.Leu105Arg) c.338T>G (p.Leu113Arg) c.323T>G (p.Leu108Arg) c.173T>G (p.Leu58Arg) c.290T>G (p.Leu97Arg) c.*145T>G (n.*145T>G) c.362T>G (p.Leu121Arg) c.491T>G (p.Leu164Arg) | |
19 | g.13025308C>A | CA505781222 | NFIX | c.312C>A (p.Leu104=) c.133C>A c.315C>A (p.Leu105=) c.339C>A (p.Leu113=) c.324C>A (p.Leu108=) c.174C>A (p.Leu58=) c.291C>A (p.Leu97=) c.*146C>A (n.*146C>A) c.363C>A (p.Leu121=) c.492C>A (p.Leu164=) | |
19 | g.13025308C= | CA2323688894 | NFIX | c.312C= (p.Leu104=) c.133C= c.315C= (p.Leu105=) c.339C= (p.Leu113=) c.324C= (p.Leu108=) c.174C= (p.Leu58=) c.291C= (p.Leu97=) c.*146C= (n.*146C=) c.363C= (p.Leu121=) c.492C= (p.Leu164=) | |
19 | g.13025308C>G | CA505781223 | NFIX | c.312C>G (p.Leu104=) c.133C>G c.315C>G (p.Leu105=) c.339C>G (p.Leu113=) c.324C>G (p.Leu108=) c.174C>G (p.Leu58=) c.291C>G (p.Leu97=) c.*146C>G (n.*146C>G) c.363C>G (p.Leu121=) c.492C>G (p.Leu164=) | |
19 | g.13025308C>T | CA505781224 | NFIX | c.312C>T (p.Leu104=) c.133C>T c.315C>T (p.Leu105=) c.339C>T (p.Leu113=) c.324C>T (p.Leu108=) c.174C>T (p.Leu58=) c.291C>T (p.Leu97=) c.*146C>T (n.*146C>T) c.363C>T (p.Leu121=) c.492C>T (p.Leu164=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13025309_13025317del | CA2740091909 | NFIX | c.313_321del (p.Ser105_Pro107del) c.134_142del c.316_324del (p.Ser106_Pro108del) c.340_348del (p.Ser114_Pro116del) c.325_333del (p.Ser109_Pro111del) c.175_183del (p.Ser59_Pro61del) c.292_300del (p.Ser98_Pro100del) c.*147_*155del (n.*147_*155del) c.364_372del (p.Ser122_Pro124del) c.493_501del (p.Ser165_Pro167del) | ClinVar |
19 | g.13025308_13025309insGGT | CA2695228217 | NFIX | c.312_313insGGT (p.Leu104_Ser105insGly) c.133_134insGGT c.315_316insGGT (p.Leu105_Ser106insGly) c.339_340insGGT (p.Leu113_Ser114insGly) c.324_325insGGT (p.Leu108_Ser109insGly) c.174_175insGGT (p.Leu58_Ser59insGly) c.291_292insGGT (p.Leu97_Ser98insGly) c.*146_*147insGGT (n.*146_*147insGGT) c.363_364insGGT (p.Leu121_Ser122insGly) c.492_493insGGT (p.Leu164_Ser165insGly) | |
19 | g.13025309T>A | CA404314228 | NFIX | c.313T>A (p.Ser105Thr) c.134T>A c.316T>A (p.Ser106Thr) c.340T>A (p.Ser114Thr) c.325T>A (p.Ser109Thr) c.175T>A (p.Ser59Thr) c.292T>A (p.Ser98Thr) c.*147T>A (n.*147T>A) c.364T>A (p.Ser122Thr) c.493T>A (p.Ser165Thr) | |
19 | g.13025309T>C | CA404314232 | NFIX | c.313T>C (p.Ser105Pro) c.134T>C c.316T>C (p.Ser106Pro) c.340T>C (p.Ser114Pro) c.325T>C (p.Ser109Pro) c.175T>C (p.Ser59Pro) c.292T>C (p.Ser98Pro) c.*147T>C (n.*147T>C) c.364T>C (p.Ser122Pro) c.493T>C (p.Ser165Pro) | ClinVar dbSNP |
19 | g.13025309T>G | CA404314225 | NFIX | c.313T>G (p.Ser105Ala) c.134T>G c.316T>G (p.Ser106Ala) c.340T>G (p.Ser114Ala) c.325T>G (p.Ser109Ala) c.175T>G (p.Ser59Ala) c.292T>G (p.Ser98Ala) c.*147T>G (n.*147T>G) c.364T>G (p.Ser122Ala) c.493T>G (p.Ser165Ala) | |
19 | g.13025309T= | CA2323688895 | NFIX | c.313T= (p.Ser105=) c.134T= c.316T= (p.Ser106=) c.340T= (p.Ser114=) c.325T= (p.Ser109=) c.175T= (p.Ser59=) c.292T= (p.Ser98=) c.*147T= (n.*147T=) c.364T= (p.Ser122=) c.493T= (p.Ser165=) | |
19 | g.13025310C>A | CA404314236 | NFIX | c.314C>A (p.Ser105Tyr) c.135C>A c.317C>A (p.Ser106Tyr) c.341C>A (p.Ser114Tyr) c.326C>A (p.Ser109Tyr) c.176C>A (p.Ser59Tyr) c.293C>A (p.Ser98Tyr) c.*148C>A (n.*148C>A) c.365C>A (p.Ser122Tyr) c.494C>A (p.Ser165Tyr) | |
19 | g.13025310C>G | CA404314237 | NFIX | c.314C>G (p.Ser105Cys) c.135C>G c.317C>G (p.Ser106Cys) c.341C>G (p.Ser114Cys) c.326C>G (p.Ser109Cys) c.176C>G (p.Ser59Cys) c.293C>G (p.Ser98Cys) c.*148C>G (n.*148C>G) c.365C>G (p.Ser122Cys) c.494C>G (p.Ser165Cys) | |
19 | g.13025310C>T | CA404314239 | NFIX | c.314C>T (p.Ser105Phe) c.135C>T c.317C>T (p.Ser106Phe) c.341C>T (p.Ser114Phe) c.326C>T (p.Ser109Phe) c.176C>T (p.Ser59Phe) c.293C>T (p.Ser98Phe) c.*148C>T (n.*148C>T) c.365C>T (p.Ser122Phe) c.494C>T (p.Ser165Phe) | ClinVar COSMIC COSMIC COSMIC COSMIC |
19 | g.13025311C>A | CA505781238 | NFIX | c.315C>A (p.Ser105=) c.136C>A c.318C>A (p.Ser106=) c.342C>A (p.Ser114=) c.327C>A (p.Ser109=) c.177C>A (p.Ser59=) c.294C>A (p.Ser98=) c.*149C>A (n.*149C>A) c.366C>A (p.Ser122=) c.495C>A (p.Ser165=) | |
19 | g.13025311C>G | CA505781236 | NFIX | c.315C>G (p.Ser105=) c.136C>G c.318C>G (p.Ser106=) c.342C>G (p.Ser114=) c.327C>G (p.Ser109=) c.177C>G (p.Ser59=) c.294C>G (p.Ser98=) c.*149C>G (n.*149C>G) c.366C>G (p.Ser122=) c.495C>G (p.Ser165=) | |
19 | g.13025311C>T | CA505781237 | NFIX | c.315C>T (p.Ser105=) c.136C>T c.318C>T (p.Ser106=) c.342C>T (p.Ser114=) c.327C>T (p.Ser109=) c.177C>T (p.Ser59=) c.294C>T (p.Ser98=) c.*149C>T (n.*149C>T) c.366C>T (p.Ser122=) c.495C>T (p.Ser165=) | gnomAD v4 |
19 | g.13025312A>C | CA404314242 | NFIX | c.316A>C (p.Asn106His) c.137A>C c.319A>C (p.Asn107His) c.343A>C (p.Asn115His) c.328A>C (p.Asn110His) c.178A>C (p.Asn60His) c.295A>C (p.Asn99His) c.*150A>C (n.*150A>C) c.367A>C (p.Asn123His) c.496A>C (p.Asn166His) | |
19 | g.13025312A>G | CA404314243 | NFIX | c.316A>G (p.Asn106Asp) c.137A>G c.319A>G (p.Asn107Asp) c.343A>G (p.Asn115Asp) c.328A>G (p.Asn110Asp) c.178A>G (p.Asn60Asp) c.295A>G (p.Asn99Asp) c.*150A>G (n.*150A>G) c.367A>G (p.Asn123Asp) c.496A>G (p.Asn166Asp) | |
19 | g.13025312A>T | CA404314244 | NFIX | c.316A>T (p.Asn106Tyr) c.137A>T c.319A>T (p.Asn107Tyr) c.343A>T (p.Asn115Tyr) c.328A>T (p.Asn110Tyr) c.178A>T (p.Asn60Tyr) c.295A>T (p.Asn99Tyr) c.*150A>T (n.*150A>T) c.367A>T (p.Asn123Tyr) c.496A>T (p.Asn166Tyr) | |
19 | g.13025313A= | CA2323688896 | NFIX | c.317A= (p.Asn106=) c.138A= c.320A= (p.Asn107=) c.344A= (p.Asn115=) c.329A= (p.Asn110=) c.179A= (p.Asn60=) c.296A= (p.Asn99=) c.*151A= (n.*151A=) c.368A= (p.Asn123=) c.497A= (p.Asn166=) | |
19 | g.13025313A>C | CA404314245 | NFIX | c.317A>C (p.Asn106Thr) c.138A>C c.320A>C (p.Asn107Thr) c.344A>C (p.Asn115Thr) c.329A>C (p.Asn110Thr) c.179A>C (p.Asn60Thr) c.296A>C (p.Asn99Thr) c.*151A>C (n.*151A>C) c.368A>C (p.Asn123Thr) c.497A>C (p.Asn166Thr) | |
19 | g.13025313A>G | CA404314250 | NFIX | c.317A>G (p.Asn106Ser) c.138A>G c.320A>G (p.Asn107Ser) c.344A>G (p.Asn115Ser) c.329A>G (p.Asn110Ser) c.179A>G (p.Asn60Ser) c.296A>G (p.Asn99Ser) c.*151A>G (n.*151A>G) c.368A>G (p.Asn123Ser) c.497A>G (p.Asn166Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13025313A>T | CA404314248 | NFIX | c.317A>T (p.Asn106Ile) c.138A>T c.320A>T (p.Asn107Ile) c.344A>T (p.Asn115Ile) c.329A>T (p.Asn110Ile) c.179A>T (p.Asn60Ile) c.296A>T (p.Asn99Ile) c.*151A>T (n.*151A>T) c.368A>T (p.Asn123Ile) c.497A>T (p.Asn166Ile) | |
19 | g.13025314C>A | CA404314256 | NFIX | c.318C>A (p.Asn106Lys) c.139C>A c.321C>A (p.Asn107Lys) c.345C>A (p.Asn115Lys) c.330C>A (p.Asn110Lys) c.180C>A (p.Asn60Lys) c.297C>A (p.Asn99Lys) c.*152C>A (n.*152C>A) c.369C>A (p.Asn123Lys) c.498C>A (p.Asn166Lys) | |
19 | g.13025314C= | CA2323688897 | NFIX | c.318C= (p.Asn106=) c.139C= c.321C= (p.Asn107=) c.345C= (p.Asn115=) c.330C= (p.Asn110=) c.180C= (p.Asn60=) c.297C= (p.Asn99=) c.*152C= (n.*152C=) c.369C= (p.Asn123=) c.498C= (p.Asn166=) | |
19 | g.13025314C>G | CA404314264 | NFIX | c.318C>G (p.Asn106Lys) c.139C>G c.321C>G (p.Asn107Lys) c.345C>G (p.Asn115Lys) c.330C>G (p.Asn110Lys) c.180C>G (p.Asn60Lys) c.297C>G (p.Asn99Lys) c.*152C>G (n.*152C>G) c.369C>G (p.Asn123Lys) c.498C>G (p.Asn166Lys) | |
19 | g.13025314C>T | CA505781244 | NFIX | c.318C>T (p.Asn106=) c.139C>T c.321C>T (p.Asn107=) c.345C>T (p.Asn115=) c.330C>T (p.Asn110=) c.180C>T (p.Asn60=) c.297C>T (p.Asn99=) c.*152C>T (n.*152C>T) c.369C>T (p.Asn123=) c.498C>T (p.Asn166=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13025317dup | CA658799165 | NFIX | c.321dup (p.Asp108ArgfsTer10) c.142dup c.324dup (p.Asp109ArgfsTer10) c.348dup (p.Asp117ArgfsTer10) c.333dup (p.Asp112ArgfsTer10) c.183dup (p.Asp62ArgfsTer10) c.300dup (p.Asp101ArgfsTer10) c.*155dup (n.*155dup) c.372dup (p.Asp125ArgfsTer10) c.501dup (p.Asp168ArgfsTer10) | ClinVar dbSNP |
19 | g.13025315C>A | CA404314265 | NFIX | c.319C>A (p.Pro107Thr) c.140C>A c.322C>A (p.Pro108Thr) c.346C>A (p.Pro116Thr) c.331C>A (p.Pro111Thr) c.181C>A (p.Pro61Thr) c.298C>A (p.Pro100Thr) c.*153C>A (n.*153C>A) c.370C>A (p.Pro124Thr) c.499C>A (p.Pro167Thr) | |
19 | g.13025315C>G | CA404314266 | NFIX | c.319C>G (p.Pro107Ala) c.140C>G c.322C>G (p.Pro108Ala) c.346C>G (p.Pro116Ala) c.331C>G (p.Pro111Ala) c.181C>G (p.Pro61Ala) c.298C>G (p.Pro100Ala) c.*153C>G (n.*153C>G) c.370C>G (p.Pro124Ala) c.499C>G (p.Pro167Ala) | |
19 | g.13025315C>T | CA404314267 | NFIX | c.319C>T (p.Pro107Ser) c.140C>T c.322C>T (p.Pro108Ser) c.346C>T (p.Pro116Ser) c.331C>T (p.Pro111Ser) c.181C>T (p.Pro61Ser) c.298C>T (p.Pro100Ser) c.*153C>T (n.*153C>T) c.370C>T (p.Pro124Ser) c.499C>T (p.Pro167Ser) | gnomAD v4 |
19 | g.13025315_13025316delinsA | CA2695228218 | NFIX | c.319_320delinsA (p.Pro107ThrfsTer27) c.140_141delinsA c.322_323delinsA (p.Pro108ThrfsTer27) c.346_347delinsA (p.Pro116ThrfsTer27) c.331_332delinsA (p.Pro111ThrfsTer27) c.181_182delinsA (p.Pro61ThrfsTer24) c.298_299delinsA (p.Pro100ThrfsTer27) c.*153_*154delinsA (n.*153_*154delinsA) c.181_182delinsA (p.Pro61ThrfsTer27) c.370_371delinsA (p.Pro124ThrfsTer27) c.499_500delinsA (p.Pro167ThrfsTer27) | |
19 | g.13025316C>A | CA404314272 | NFIX | c.320C>A (p.Pro107His) c.141C>A c.323C>A (p.Pro108His) c.347C>A (p.Pro116His) c.332C>A (p.Pro111His) c.182C>A (p.Pro61His) c.299C>A (p.Pro100His) c.*154C>A (n.*154C>A) c.371C>A (p.Pro124His) c.500C>A (p.Pro167His) | |
19 | g.13025316C>G | CA404314273 | NFIX | c.320C>G (p.Pro107Arg) c.141C>G c.323C>G (p.Pro108Arg) c.347C>G (p.Pro116Arg) c.332C>G (p.Pro111Arg) c.182C>G (p.Pro61Arg) c.299C>G (p.Pro100Arg) c.*154C>G (n.*154C>G) c.371C>G (p.Pro124Arg) c.500C>G (p.Pro167Arg) | |
19 | g.13025316C>T | CA404314269 | NFIX | c.320C>T (p.Pro107Leu) c.141C>T c.323C>T (p.Pro108Leu) c.347C>T (p.Pro116Leu) c.332C>T (p.Pro111Leu) c.182C>T (p.Pro61Leu) c.299C>T (p.Pro100Leu) c.*154C>T (n.*154C>T) c.371C>T (p.Pro124Leu) c.500C>T (p.Pro167Leu) | |
19 | g.13025317C>A | CA505781254 | NFIX | c.321C>A (p.Pro107=) c.142C>A c.324C>A (p.Pro108=) c.348C>A (p.Pro116=) c.333C>A (p.Pro111=) c.183C>A (p.Pro61=) c.300C>A (p.Pro100=) c.*155C>A (n.*155C>A) c.372C>A (p.Pro124=) c.501C>A (p.Pro167=) | dbSNP gnomAD v4 |
19 | g.13025317C= | CA2323688899 | NFIX | c.321C= (p.Pro107=) c.142C= c.324C= (p.Pro108=) c.348C= (p.Pro116=) c.333C= (p.Pro111=) c.183C= (p.Pro61=) c.300C= (p.Pro100=) c.*155C= (n.*155C=) c.372C= (p.Pro124=) c.501C= (p.Pro167=) | |
19 | g.13025317C>G | CA505781257 | NFIX | c.321C>G (p.Pro107=) c.142C>G c.324C>G (p.Pro108=) c.348C>G (p.Pro116=) c.333C>G (p.Pro111=) c.183C>G (p.Pro61=) c.300C>G (p.Pro100=) c.*155C>G (n.*155C>G) c.372C>G (p.Pro124=) c.501C>G (p.Pro167=) | gnomAD v4 |
19 | g.13025317C>T | CA9236975 | NFIX | c.321C>T (p.Pro107=) c.142C>T c.324C>T (p.Pro108=) c.348C>T (p.Pro116=) c.333C>T (p.Pro111=) c.183C>T (p.Pro61=) c.300C>T (p.Pro100=) c.*155C>T (n.*155C>T) c.372C>T (p.Pro124=) c.501C>T (p.Pro167=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13025317_13025331delinsCGACCAGAAGGGCAA | CA2323688898 | NFIX | c.321_335delinsCGACCAGAAGGGCAA (p.Pro107=) c.142_156delinsCGACCAGAAGGGCAA c.324_338delinsCGACCAGAAGGGCAA (p.Pro108=) c.348_362delinsCGACCAGAAGGGCAA (p.Pro116=) c.333_347delinsCGACCAGAAGGGCAA (p.Pro111=) c.183_197delinsCGACCAGAAGGGCAA (p.Pro61=) c.300_314delinsCGACCAGAAGGGCAA (p.Pro100=) c.*155_*169delinsCGACCAGAAGGGCAA (n.*155_*169delinsCGACCAGAAGGGCAA) c.372_386delinsCGACCAGAAGGGCAA (p.Pro124=) c.501_515delinsCGACCAGAAGGGCAA (p.Pro167=) | |
19 | g.13025318G>A | CA404314288 | NFIX | c.322G>A (p.Asp108Asn) c.143G>A c.325G>A (p.Asp109Asn) c.349G>A (p.Asp117Asn) c.334G>A (p.Asp112Asn) c.184G>A (p.Asp62Asn) c.301G>A (p.Asp101Asn) c.*156G>A (n.*156G>A) c.373G>A (p.Asp125Asn) c.502G>A (p.Asp168Asn) | |
19 | g.13025318G>C | CA404314294 | NFIX | c.322G>C (p.Asp108His) c.143G>C c.325G>C (p.Asp109His) c.349G>C (p.Asp117His) c.334G>C (p.Asp112His) c.184G>C (p.Asp62His) c.301G>C (p.Asp101His) c.*156G>C (n.*156G>C) c.373G>C (p.Asp125His) c.502G>C (p.Asp168His) | |
19 | g.13025318G>T | CA404314291 | NFIX | c.322G>T (p.Asp108Tyr) c.143G>T c.325G>T (p.Asp109Tyr) c.349G>T (p.Asp117Tyr) c.334G>T (p.Asp112Tyr) c.184G>T (p.Asp62Tyr) c.301G>T (p.Asp101Tyr) c.*156G>T (n.*156G>T) c.373G>T (p.Asp125Tyr) c.502G>T (p.Asp168Tyr) | ClinVar dbSNP |
19 | g.13025320_13025333del | CA915952541 | NFIX | c.324_337del (p.Gln109ProfsTer4) c.145_158del c.327_340del (p.Gln110ProfsTer4) c.351_364del (p.Gln118ProfsTer4) c.336_349del (p.Gln113ProfsTer4) c.186_199del (p.Gln63ProfsTer4) c.303_316del (p.Gln102ProfsTer4) c.*158_*171del (n.*158_*171del) c.375_388del (p.Gln126ProfsTer4) c.504_517del (p.Gln169ProfsTer4) | ClinVar dbSNP |
19 | g.13025319A= | CA2323688900 | NFIX | c.323A= (p.Asp108=) c.144A= c.326A= (p.Asp109=) c.350A= (p.Asp117=) c.335A= (p.Asp112=) c.185A= (p.Asp62=) c.302A= (p.Asp101=) c.*157A= (n.*157A=) c.374A= (p.Asp125=) c.503A= (p.Asp168=) | |
19 | g.13025319A>C | CA404314300 | NFIX | c.323A>C (p.Asp108Ala) c.144A>C c.326A>C (p.Asp109Ala) c.350A>C (p.Asp117Ala) c.335A>C (p.Asp112Ala) c.185A>C (p.Asp62Ala) c.302A>C (p.Asp101Ala) c.*157A>C (n.*157A>C) c.374A>C (p.Asp125Ala) c.503A>C (p.Asp168Ala) | ClinVar dbSNP |
19 | g.13025319A>G | CA404314305 | NFIX | c.323A>G (p.Asp108Gly) c.144A>G c.326A>G (p.Asp109Gly) c.350A>G (p.Asp117Gly) c.335A>G (p.Asp112Gly) c.185A>G (p.Asp62Gly) c.302A>G (p.Asp101Gly) c.*157A>G (n.*157A>G) c.374A>G (p.Asp125Gly) c.503A>G (p.Asp168Gly) | |
19 | g.13025319A>T | CA404314313 | NFIX | c.323A>T (p.Asp108Val) c.144A>T c.326A>T (p.Asp109Val) c.350A>T (p.Asp117Val) c.335A>T (p.Asp112Val) c.185A>T (p.Asp62Val) c.302A>T (p.Asp101Val) c.*157A>T (n.*157A>T) c.374A>T (p.Asp125Val) c.503A>T (p.Asp168Val) | |
19 | g.13025320C>A | CA404314329 | NFIX | c.324C>A (p.Asp108Glu) c.145C>A c.327C>A (p.Asp109Glu) c.351C>A (p.Asp117Glu) c.336C>A (p.Asp112Glu) c.186C>A (p.Asp62Glu) c.303C>A (p.Asp101Glu) c.*158C>A (n.*158C>A) c.375C>A (p.Asp125Glu) c.504C>A (p.Asp168Glu) | |
19 | g.13025320C>G | CA404314337 | NFIX | c.324C>G (p.Asp108Glu) c.145C>G c.327C>G (p.Asp109Glu) c.351C>G (p.Asp117Glu) c.336C>G (p.Asp112Glu) c.186C>G (p.Asp62Glu) c.303C>G (p.Asp101Glu) c.*158C>G (n.*158C>G) c.375C>G (p.Asp125Glu) c.504C>G (p.Asp168Glu) | |
19 | g.13025320C>T | CA505781269 | NFIX | c.324C>T (p.Asp108=) c.145C>T c.327C>T (p.Asp109=) c.351C>T (p.Asp117=) c.336C>T (p.Asp112=) c.186C>T (p.Asp62=) c.303C>T (p.Asp101=) c.*158C>T (n.*158C>T) c.375C>T (p.Asp125=) c.504C>T (p.Asp168=) | gnomAD v4 |
19 | g.13025321C>A | CA404314341 | NFIX | c.325C>A (p.Gln109Lys) c.146C>A c.328C>A (p.Gln110Lys) c.352C>A (p.Gln118Lys) c.337C>A (p.Gln113Lys) c.187C>A (p.Gln63Lys) c.304C>A (p.Gln102Lys) c.*159C>A (n.*159C>A) c.376C>A (p.Gln126Lys) c.505C>A (p.Gln169Lys) | |
19 | g.13025321C>G | CA404314349 | NFIX | c.325C>G (p.Gln109Glu) c.146C>G c.328C>G (p.Gln110Glu) c.352C>G (p.Gln118Glu) c.337C>G (p.Gln113Glu) c.187C>G (p.Gln63Glu) c.304C>G (p.Gln102Glu) c.*159C>G (n.*159C>G) c.376C>G (p.Gln126Glu) c.505C>G (p.Gln169Glu) | |
19 | g.13025321C>T | CA404314355 | NFIX | c.325C>T (p.Gln109Ter) c.146C>T c.328C>T (p.Gln110Ter) c.352C>T (p.Gln118Ter) c.337C>T (p.Gln113Ter) c.187C>T (p.Gln63Ter) c.304C>T (p.Gln102Ter) c.*159C>T (n.*159C>T) c.376C>T (p.Gln126Ter) c.505C>T (p.Gln169Ter) | |
19 | g.13025322del | CA2831039042 | NFIX | c.326del (p.Gln109ArgfsTer25) c.147del c.329del (p.Gln110ArgfsTer25) c.353del (p.Gln118ArgfsTer25) c.338del (p.Gln113ArgfsTer25) c.188del (p.Gln63ArgfsTer22) c.305del (p.Gln102ArgfsTer25) c.*160del (n.*160del) c.188del (p.Gln63ArgfsTer25) c.377del (p.Gln126ArgfsTer25) c.506del (p.Gln169ArgfsTer25) | |
19 | g.13025322A>C | CA404314356 | NFIX | c.326A>C (p.Gln109Pro) c.147A>C c.329A>C (p.Gln110Pro) c.353A>C (p.Gln118Pro) c.338A>C (p.Gln113Pro) c.188A>C (p.Gln63Pro) c.305A>C (p.Gln102Pro) c.*160A>C (n.*160A>C) c.377A>C (p.Gln126Pro) c.506A>C (p.Gln169Pro) | |
19 | g.13025322A>G | CA404314357 | NFIX | c.326A>G (p.Gln109Arg) c.147A>G c.329A>G (p.Gln110Arg) c.353A>G (p.Gln118Arg) c.338A>G (p.Gln113Arg) c.188A>G (p.Gln63Arg) c.305A>G (p.Gln102Arg) c.*160A>G (n.*160A>G) c.377A>G (p.Gln126Arg) c.506A>G (p.Gln169Arg) | |
19 | g.13025322A>T | CA404314359 | NFIX | c.326A>T (p.Gln109Leu) c.147A>T c.329A>T (p.Gln110Leu) c.353A>T (p.Gln118Leu) c.338A>T (p.Gln113Leu) c.188A>T (p.Gln63Leu) c.305A>T (p.Gln102Leu) c.*160A>T (n.*160A>T) c.377A>T (p.Gln126Leu) c.506A>T (p.Gln169Leu) | |
19 | g.13025323G>A | CA505781276 | NFIX | c.327G>A (p.Gln109=) c.148G>A c.330G>A (p.Gln110=) c.354G>A (p.Gln118=) c.339G>A (p.Gln113=) c.189G>A (p.Gln63=) c.306G>A (p.Gln102=) c.*161G>A (n.*161G>A) c.378G>A (p.Gln126=) c.507G>A (p.Gln169=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13025323G>C | CA404314370 | NFIX | c.327G>C (p.Gln109His) c.148G>C c.330G>C (p.Gln110His) c.354G>C (p.Gln118His) c.339G>C (p.Gln113His) c.189G>C (p.Gln63His) c.306G>C (p.Gln102His) c.*161G>C (n.*161G>C) c.378G>C (p.Gln126His) c.507G>C (p.Gln169His) | |
19 | g.13025323G= | CA2323688901 | NFIX | c.327G= (p.Gln109=) c.148G= c.330G= (p.Gln110=) c.354G= (p.Gln118=) c.339G= (p.Gln113=) c.189G= (p.Gln63=) c.306G= (p.Gln102=) c.*161G= (n.*161G=) c.378G= (p.Gln126=) c.507G= (p.Gln169=) | |
19 | g.13025323G>T | CA404314366 | NFIX | c.327G>T (p.Gln109His) c.148G>T c.330G>T (p.Gln110His) c.354G>T (p.Gln118His) c.339G>T (p.Gln113His) c.189G>T (p.Gln63His) c.306G>T (p.Gln102His) c.*161G>T (n.*161G>T) c.378G>T (p.Gln126His) c.507G>T (p.Gln169His) | |
19 | g.13025324A>C | CA404314376 | NFIX | c.328A>C (p.Lys110Gln) c.149A>C c.331A>C (p.Lys111Gln) c.355A>C (p.Lys119Gln) c.340A>C (p.Lys114Gln) c.190A>C (p.Lys64Gln) c.307A>C (p.Lys103Gln) c.*162A>C (n.*162A>C) c.379A>C (p.Lys127Gln) c.508A>C (p.Lys170Gln) | |
19 | g.13025324A>G | CA404314378 | NFIX | c.328A>G (p.Lys110Glu) c.149A>G c.331A>G (p.Lys111Glu) c.355A>G (p.Lys119Glu) c.340A>G (p.Lys114Glu) c.190A>G (p.Lys64Glu) c.307A>G (p.Lys103Glu) c.*162A>G (n.*162A>G) c.379A>G (p.Lys127Glu) c.508A>G (p.Lys170Glu) | |
19 | g.13025324A>T | CA404314380 | NFIX | c.328A>T (p.Lys110Ter) c.149A>T c.331A>T (p.Lys111Ter) c.355A>T (p.Lys119Ter) c.340A>T (p.Lys114Ter) c.190A>T (p.Lys64Ter) c.307A>T (p.Lys103Ter) c.*162A>T (n.*162A>T) c.379A>T (p.Lys127Ter) c.508A>T (p.Lys170Ter) | |
19 | g.13025324_13025325insCACACCCAACAC | CA2813656095 | NFIX | c.328_329insCACACCCAACAC (p.Lys110delinsThrHisProThrGln) c.149_150insCACACCCAACAC c.331_332insCACACCCAACAC (p.Lys111delinsThrHisProThrGln) c.355_356insCACACCCAACAC (p.Lys119delinsThrHisProThrGln) c.340_341insCACACCCAACAC (p.Lys114delinsThrHisProThrGln) c.190_191insCACACCCAACAC (p.Lys64delinsThrHisProThrGln) c.307_308insCACACCCAACAC (p.Lys103delinsThrHisProThrGln) c.*162_*163insCACACCCAACAC (n.*162_*163insCACACCCAACAC) c.379_380insCACACCCAACAC (p.Lys127delinsThrHisProThrGln) c.508_509insCACACCCAACAC (p.Lys170delinsThrHisProThrGln) | |
19 | g.13025325A>C | CA404314382 | NFIX | c.329A>C (p.Lys110Thr) c.150A>C c.332A>C (p.Lys111Thr) c.356A>C (p.Lys119Thr) c.341A>C (p.Lys114Thr) c.191A>C (p.Lys64Thr) c.308A>C (p.Lys103Thr) c.*163A>C (n.*163A>C) c.380A>C (p.Lys127Thr) c.509A>C (p.Lys170Thr) | |
19 | g.13025325A>G | CA404314384 | NFIX | c.329A>G (p.Lys110Arg) c.150A>G c.332A>G (p.Lys111Arg) c.356A>G (p.Lys119Arg) c.341A>G (p.Lys114Arg) c.191A>G (p.Lys64Arg) c.308A>G (p.Lys103Arg) c.*163A>G (n.*163A>G) c.380A>G (p.Lys127Arg) c.509A>G (p.Lys170Arg) | |
19 | g.13025325A>T | CA404314385 | NFIX | c.329A>T (p.Lys110Met) c.150A>T c.332A>T (p.Lys111Met) c.356A>T (p.Lys119Met) c.341A>T (p.Lys114Met) c.191A>T (p.Lys64Met) c.308A>T (p.Lys103Met) c.*163A>T (n.*163A>T) c.380A>T (p.Lys127Met) c.509A>T (p.Lys170Met) | |
19 | g.13025326G>A | CA505781289 | NFIX | c.330G>A (p.Lys110=) c.151G>A c.333G>A (p.Lys111=) c.357G>A (p.Lys119=) c.342G>A (p.Lys114=) c.192G>A (p.Lys64=) c.309G>A (p.Lys103=) c.*164G>A (n.*164G>A) c.381G>A (p.Lys127=) c.510G>A (p.Lys170=) | COSMIC COSMIC |
19 | g.13025326G>C | CA404314386 | NFIX | c.330G>C (p.Lys110Asn) c.151G>C c.333G>C (p.Lys111Asn) c.357G>C (p.Lys119Asn) c.342G>C (p.Lys114Asn) c.192G>C (p.Lys64Asn) c.309G>C (p.Lys103Asn) c.*164G>C (n.*164G>C) c.381G>C (p.Lys127Asn) c.510G>C (p.Lys170Asn) | |
19 | g.13025326G>T | CA404314388 | NFIX | c.330G>T (p.Lys110Asn) c.151G>T c.333G>T (p.Lys111Asn) c.357G>T (p.Lys119Asn) c.342G>T (p.Lys114Asn) c.192G>T (p.Lys64Asn) c.309G>T (p.Lys103Asn) c.*164G>T (n.*164G>T) c.381G>T (p.Lys127Asn) c.510G>T (p.Lys170Asn) | |
19 | g.13025327G>A | CA404314394 | NFIX | c.331G>A (p.Gly111Ser) c.152G>A c.334G>A (p.Gly112Ser) c.358G>A (p.Gly120Ser) c.343G>A (p.Gly115Ser) c.193G>A (p.Gly65Ser) c.310G>A (p.Gly104Ser) c.*165G>A (n.*165G>A) c.382G>A (p.Gly128Ser) c.511G>A (p.Gly171Ser) | |
19 | g.13025327G>C | CA404314395 | NFIX | c.331G>C (p.Gly111Arg) c.152G>C c.334G>C (p.Gly112Arg) c.358G>C (p.Gly120Arg) c.343G>C (p.Gly115Arg) c.193G>C (p.Gly65Arg) c.310G>C (p.Gly104Arg) c.*165G>C (n.*165G>C) c.382G>C (p.Gly128Arg) c.511G>C (p.Gly171Arg) | |
19 | g.13025327G>T | CA404314401 | NFIX | c.331G>T (p.Gly111Cys) c.152G>T c.334G>T (p.Gly112Cys) c.358G>T (p.Gly120Cys) c.343G>T (p.Gly115Cys) c.193G>T (p.Gly65Cys) c.310G>T (p.Gly104Cys) c.*165G>T (n.*165G>T) c.382G>T (p.Gly128Cys) c.511G>T (p.Gly171Cys) | |
19 | g.13025328G>A | CA404314404 | NFIX | c.332G>A (p.Gly111Asp) c.153G>A c.335G>A (p.Gly112Asp) c.359G>A (p.Gly120Asp) c.344G>A (p.Gly115Asp) c.194G>A (p.Gly65Asp) c.311G>A (p.Gly104Asp) c.*166G>A (n.*166G>A) c.383G>A (p.Gly128Asp) c.512G>A (p.Gly171Asp) | |
19 | g.13025328G>C | CA404314406 | NFIX | c.332G>C (p.Gly111Ala) c.153G>C c.335G>C (p.Gly112Ala) c.359G>C (p.Gly120Ala) c.344G>C (p.Gly115Ala) c.194G>C (p.Gly65Ala) c.311G>C (p.Gly104Ala) c.*166G>C (n.*166G>C) c.383G>C (p.Gly128Ala) c.512G>C (p.Gly171Ala) | |
19 | g.13025328G>T | CA404314402 | NFIX | c.332G>T (p.Gly111Val) c.153G>T c.335G>T (p.Gly112Val) c.359G>T (p.Gly120Val) c.344G>T (p.Gly115Val) c.194G>T (p.Gly65Val) c.311G>T (p.Gly104Val) c.*166G>T (n.*166G>T) c.383G>T (p.Gly128Val) c.512G>T (p.Gly171Val) | ClinVar dbSNP |
19 | g.13025329C>A | CA505780740 | NFIX | c.333C>A (p.Gly111=) c.154C>A c.336C>A (p.Gly112=) c.360C>A (p.Gly120=) c.345C>A (p.Gly115=) c.195C>A (p.Gly65=) c.312C>A (p.Gly104=) c.*167C>A (n.*167C>A) c.384C>A (p.Gly128=) c.513C>A (p.Gly171=) | gnomAD v4 |
19 | g.13025329C>G | CA505780741 | NFIX | c.333C>G (p.Gly111=) c.154C>G c.336C>G (p.Gly112=) c.360C>G (p.Gly120=) c.345C>G (p.Gly115=) c.195C>G (p.Gly65=) c.312C>G (p.Gly104=) c.*167C>G (n.*167C>G) c.384C>G (p.Gly128=) c.513C>G (p.Gly171=) | |
19 | g.13025329C>T | CA505780742 | NFIX | c.333C>T (p.Gly111=) c.154C>T c.336C>T (p.Gly112=) c.360C>T (p.Gly120=) c.345C>T (p.Gly115=) c.195C>T (p.Gly65=) c.312C>T (p.Gly104=) c.*167C>T (n.*167C>T) c.384C>T (p.Gly128=) c.513C>T (p.Gly171=) | ClinVar |
19 | g.13025330A= | CA2323688902 | NFIX | c.334A= (p.Lys112=) c.155A= c.337A= (p.Lys113=) c.361A= (p.Lys121=) c.346A= (p.Lys116=) c.196A= (p.Lys66=) c.313A= (p.Lys105=) c.*168A= (n.*168A=) c.385A= (p.Lys129=) c.514A= (p.Lys172=) | |
19 | g.13025330A>C | CA404314414 | NFIX | c.334A>C (p.Lys112Gln) c.155A>C c.337A>C (p.Lys113Gln) c.361A>C (p.Lys121Gln) c.346A>C (p.Lys116Gln) c.196A>C (p.Lys66Gln) c.313A>C (p.Lys105Gln) c.*168A>C (n.*168A>C) c.385A>C (p.Lys129Gln) c.514A>C (p.Lys172Gln) | |
19 | g.13025330A>G | CA404314422 | NFIX | c.334A>G (p.Lys112Glu) c.155A>G c.337A>G (p.Lys113Glu) c.361A>G (p.Lys121Glu) c.346A>G (p.Lys116Glu) c.196A>G (p.Lys66Glu) c.313A>G (p.Lys105Glu) c.*168A>G (n.*168A>G) c.385A>G (p.Lys129Glu) c.514A>G (p.Lys172Glu) | ClinVar dbSNP |
19 | g.13025330A>T | CA404314424 | NFIX | c.334A>T (p.Lys112Ter) c.155A>T c.337A>T (p.Lys113Ter) c.361A>T (p.Lys121Ter) c.346A>T (p.Lys116Ter) c.196A>T (p.Lys66Ter) c.313A>T (p.Lys105Ter) c.*168A>T (n.*168A>T) c.385A>T (p.Lys129Ter) c.514A>T (p.Lys172Ter) | |
19 | g.13025331A>C | CA404314429 | NFIX | c.335A>C (p.Lys112Thr) c.156A>C c.338A>C (p.Lys113Thr) c.362A>C (p.Lys121Thr) c.347A>C (p.Lys116Thr) c.197A>C (p.Lys66Thr) c.314A>C (p.Lys105Thr) c.*169A>C (n.*169A>C) c.386A>C (p.Lys129Thr) c.515A>C (p.Lys172Thr) | |
19 | g.13025331A>G | CA404314446 | NFIX | c.335A>G (p.Lys112Arg) c.156A>G c.338A>G (p.Lys113Arg) c.362A>G (p.Lys121Arg) c.347A>G (p.Lys116Arg) c.197A>G (p.Lys66Arg) c.314A>G (p.Lys105Arg) c.*169A>G (n.*169A>G) c.386A>G (p.Lys129Arg) c.515A>G (p.Lys172Arg) | |
19 | g.13025331A>T | CA404314453 | NFIX | c.335A>T (p.Lys112Met) c.156A>T c.338A>T (p.Lys113Met) c.362A>T (p.Lys121Met) c.347A>T (p.Lys116Met) c.197A>T (p.Lys66Met) c.314A>T (p.Lys105Met) c.*169A>T (n.*169A>T) c.386A>T (p.Lys129Met) c.515A>T (p.Lys172Met) | |
19 | g.13025332_13025333dup | CA2580096549 | NFIX | c.336_337dup (p.Ile113ArgfsTer22) c.157_158dup c.339_340dup (p.Ile114ArgfsTer22) c.363_364dup (p.Ile122ArgfsTer22) c.348_349dup (p.Ile117ArgfsTer22) c.198_199dup (p.Ile67ArgfsTer19) c.315_316dup (p.Ile106ArgfsTer22) c.*170_*171dup (n.*170_*171dup) c.198_199dup (p.Ile67ArgfsTer22) c.387_388dup (p.Ile130ArgfsTer22) c.516_517dup (p.Ile173ArgfsTer22) | ClinVar |
19 | g.13025331_13025335dup | CA250382 | NFIX | c.335_339dup (p.Arg115SerfsTer21) c.156_160dup c.338_342dup (p.Arg116SerfsTer21) c.362_366dup (p.Arg124SerfsTer21) c.347_351dup (p.Arg119SerfsTer21) c.197_201dup (p.Arg69SerfsTer18) c.314_318dup (p.Arg108SerfsTer21) c.*169_*173dup (n.*169_*173dup) c.197_201dup (p.Arg69SerfsTer21) c.386_390dup (p.Arg132SerfsTer21) c.515_519dup (p.Arg175SerfsTer21) | ClinVar dbSNP |
19 | g.13025332G>A | CA505780743 | NFIX | c.336G>A (p.Lys112=) c.157G>A c.339G>A (p.Lys113=) c.363G>A (p.Lys121=) c.348G>A (p.Lys116=) c.198G>A (p.Lys66=) c.315G>A (p.Lys105=) c.*170G>A (n.*170G>A) c.387G>A (p.Lys129=) c.516G>A (p.Lys172=) | gnomAD v4 |
19 | g.13025332G>C | CA404314464 | NFIX | c.336G>C (p.Lys112Asn) c.157G>C c.339G>C (p.Lys113Asn) c.363G>C (p.Lys121Asn) c.348G>C (p.Lys116Asn) c.198G>C (p.Lys66Asn) c.315G>C (p.Lys105Asn) c.*170G>C (n.*170G>C) c.387G>C (p.Lys129Asn) c.516G>C (p.Lys172Asn) | |
19 | g.13025332G>T | CA404314467 | NFIX | c.336G>T (p.Lys112Asn) c.157G>T c.339G>T (p.Lys113Asn) c.363G>T (p.Lys121Asn) c.348G>T (p.Lys116Asn) c.198G>T (p.Lys66Asn) c.315G>T (p.Lys105Asn) c.*170G>T (n.*170G>T) c.387G>T (p.Lys129Asn) c.516G>T (p.Lys172Asn) | |
19 | g.13025333A>C | CA404314472 | NFIX | c.337A>C (p.Ile113Leu) c.158A>C c.340A>C (p.Ile114Leu) c.364A>C (p.Ile122Leu) c.349A>C (p.Ile117Leu) c.199A>C (p.Ile67Leu) c.316A>C (p.Ile106Leu) c.*171A>C (n.*171A>C) c.388A>C (p.Ile130Leu) c.517A>C (p.Ile173Leu) | |
19 | g.13025333A>G | CA404314476 | NFIX | c.337A>G (p.Ile113Val) c.158A>G c.340A>G (p.Ile114Val) c.364A>G (p.Ile122Val) c.349A>G (p.Ile117Val) c.199A>G (p.Ile67Val) c.316A>G (p.Ile106Val) c.*171A>G (n.*171A>G) c.388A>G (p.Ile130Val) c.517A>G (p.Ile173Val) | |
19 | g.13025333A>T | CA404314479 | NFIX | c.337A>T (p.Ile113Phe) c.158A>T c.340A>T (p.Ile114Phe) c.364A>T (p.Ile122Phe) c.349A>T (p.Ile117Phe) c.199A>T (p.Ile67Phe) c.316A>T (p.Ile106Phe) c.*171A>T (n.*171A>T) c.388A>T (p.Ile130Phe) c.517A>T (p.Ile173Phe) | |
19 | g.13025334T>A | CA404314489 | NFIX | c.338T>A (p.Ile113Asn) c.159T>A c.341T>A (p.Ile114Asn) c.365T>A (p.Ile122Asn) c.350T>A (p.Ile117Asn) c.200T>A (p.Ile67Asn) c.317T>A (p.Ile106Asn) c.*172T>A (n.*172T>A) c.389T>A (p.Ile130Asn) c.518T>A (p.Ile173Asn) | |
19 | g.13025334T>C | CA404314492 | NFIX | c.338T>C (p.Ile113Thr) c.159T>C c.341T>C (p.Ile114Thr) c.365T>C (p.Ile122Thr) c.350T>C (p.Ile117Thr) c.200T>C (p.Ile67Thr) c.317T>C (p.Ile106Thr) c.*172T>C (n.*172T>C) c.389T>C (p.Ile130Thr) c.518T>C (p.Ile173Thr) | |
19 | g.13025334T>G | CA404314486 | NFIX | c.338T>G (p.Ile113Ser) c.159T>G c.341T>G (p.Ile114Ser) c.365T>G (p.Ile122Ser) c.350T>G (p.Ile117Ser) c.200T>G (p.Ile67Ser) c.317T>G (p.Ile106Ser) c.*172T>G (n.*172T>G) c.389T>G (p.Ile130Ser) c.518T>G (p.Ile173Ser) | |
19 | g.13025335C>A | CA505780744 | NFIX | c.339C>A (p.Ile113=) c.160C>A c.342C>A (p.Ile114=) c.366C>A (p.Ile122=) c.351C>A (p.Ile117=) c.201C>A (p.Ile67=) c.318C>A (p.Ile106=) c.*173C>A (n.*173C>A) c.390C>A (p.Ile130=) c.519C>A (p.Ile173=) | |
19 | g.13025335C>G | CA404314499 | NFIX | c.339C>G (p.Ile113Met) c.160C>G c.342C>G (p.Ile114Met) c.366C>G (p.Ile122Met) c.351C>G (p.Ile117Met) c.201C>G (p.Ile67Met) c.318C>G (p.Ile106Met) c.*173C>G (n.*173C>G) c.390C>G (p.Ile130Met) c.519C>G (p.Ile173Met) | |
19 | g.13025335C>T | CA505780745 | NFIX | c.339C>T (p.Ile113=) c.160C>T c.342C>T (p.Ile114=) c.366C>T (p.Ile122=) c.351C>T (p.Ile117=) c.201C>T (p.Ile67=) c.318C>T (p.Ile106=) c.*173C>T (n.*173C>T) c.390C>T (p.Ile130=) c.519C>T (p.Ile173=) | gnomAD v4 |
19 | g.13025336C>A | CA505780746 | NFIX | c.340C>A (p.Arg114=) c.161C>A c.343C>A (p.Arg115=) c.367C>A (p.Arg123=) c.352C>A (p.Arg118=) c.202C>A (p.Arg68=) c.319C>A (p.Arg107=) c.*174C>A (n.*174C>A) c.391C>A (p.Arg131=) c.520C>A (p.Arg174=) | |
19 | g.13025336C>G | CA404314503 | NFIX | c.340C>G (p.Arg114Gly) c.161C>G c.343C>G (p.Arg115Gly) c.367C>G (p.Arg123Gly) c.352C>G (p.Arg118Gly) c.202C>G (p.Arg68Gly) c.319C>G (p.Arg107Gly) c.*174C>G (n.*174C>G) c.391C>G (p.Arg131Gly) c.520C>G (p.Arg174Gly) | |
19 | g.13025336C>T | CA404314504 | NFIX | c.340C>T (p.Arg114Trp) c.161C>T c.343C>T (p.Arg115Trp) c.367C>T (p.Arg123Trp) c.352C>T (p.Arg118Trp) c.202C>T (p.Arg68Trp) c.319C>T (p.Arg107Trp) c.*174C>T (n.*174C>T) c.391C>T (p.Arg131Trp) c.520C>T (p.Arg174Trp) | |
19 | g.13025337G>A | CA404314506 | NFIX | c.341G>A (p.Arg114Gln) c.162G>A c.344G>A (p.Arg115Gln) c.368G>A (p.Arg123Gln) c.353G>A (p.Arg118Gln) c.203G>A (p.Arg68Gln) c.320G>A (p.Arg107Gln) c.*175G>A (n.*175G>A) c.392G>A (p.Arg131Gln) c.521G>A (p.Arg174Gln) | ClinVar dbSNP |
19 | g.13025337G>C | CA404314509 | NFIX | c.341G>C (p.Arg114Pro) c.162G>C c.344G>C (p.Arg115Pro) c.368G>C (p.Arg123Pro) c.353G>C (p.Arg118Pro) c.203G>C (p.Arg68Pro) c.320G>C (p.Arg107Pro) c.*175G>C (n.*175G>C) c.392G>C (p.Arg131Pro) c.521G>C (p.Arg174Pro) | |
19 | g.13025337G= | CA2323688903 | NFIX | c.341G= (p.Arg114=) c.162G= c.344G= (p.Arg115=) c.368G= (p.Arg123=) c.353G= (p.Arg118=) c.203G= (p.Arg68=) c.320G= (p.Arg107=) c.*175G= (n.*175G=) c.392G= (p.Arg131=) c.521G= (p.Arg174=) | |
19 | g.13025337G>T | CA404314510 | NFIX | c.341G>T (p.Arg114Leu) c.162G>T c.344G>T (p.Arg115Leu) c.368G>T (p.Arg123Leu) c.353G>T (p.Arg118Leu) c.203G>T (p.Arg68Leu) c.320G>T (p.Arg107Leu) c.*175G>T (n.*175G>T) c.392G>T (p.Arg131Leu) c.521G>T (p.Arg174Leu) | COSMIC COSMIC COSMIC |
19 | g.13025338G>A | CA505780749 | NFIX | c.342G>A (p.Arg114=) c.163G>A c.345G>A (p.Arg115=) c.369G>A (p.Arg123=) c.354G>A (p.Arg118=) c.204G>A (p.Arg68=) c.321G>A (p.Arg107=) c.*176G>A (n.*176G>A) c.393G>A (p.Arg131=) c.522G>A (p.Arg174=) | |
19 | g.13025338G>C | CA505780748 | NFIX | c.342G>C (p.Arg114=) c.163G>C c.345G>C (p.Arg115=) c.369G>C (p.Arg123=) c.354G>C (p.Arg118=) c.204G>C (p.Arg68=) c.321G>C (p.Arg107=) c.*176G>C (n.*176G>C) c.393G>C (p.Arg131=) c.522G>C (p.Arg174=) | |
19 | g.13025338G>T | CA505780747 | NFIX | c.342G>T (p.Arg114=) c.163G>T c.345G>T (p.Arg115=) c.369G>T (p.Arg123=) c.354G>T (p.Arg118=) c.204G>T (p.Arg68=) c.321G>T (p.Arg107=) c.*176G>T (n.*176G>T) c.393G>T (p.Arg131=) c.522G>T (p.Arg174=) | |
19 | g.13025339C>A | CA505780750 | NFIX | c.343C>A (p.Arg115=) c.164C>A c.346C>A (p.Arg116=) c.370C>A (p.Arg124=) c.355C>A (p.Arg119=) c.205C>A (p.Arg69=) c.322C>A (p.Arg108=) c.*177C>A (n.*177C>A) c.394C>A (p.Arg132=) c.523C>A (p.Arg175=) | gnomAD v4 |
19 | g.13025339C= | CA2323688904 | NFIX | c.343C= (p.Arg115=) c.164C= c.346C= (p.Arg116=) c.370C= (p.Arg124=) c.355C= (p.Arg119=) c.205C= (p.Arg69=) c.322C= (p.Arg108=) c.*177C= (n.*177C=) c.394C= (p.Arg132=) c.523C= (p.Arg175=) | |
19 | g.13025339C>G | CA404314511 | NFIX | c.343C>G (p.Arg115Gly) c.164C>G c.346C>G (p.Arg116Gly) c.370C>G (p.Arg124Gly) c.355C>G (p.Arg119Gly) c.205C>G (p.Arg69Gly) c.322C>G (p.Arg108Gly) c.*177C>G (n.*177C>G) c.394C>G (p.Arg132Gly) c.523C>G (p.Arg175Gly) | |
19 | g.13025339C>T | CA404314512 | NFIX | c.343C>T (p.Arg115Trp) c.164C>T c.346C>T (p.Arg116Trp) c.370C>T (p.Arg124Trp) c.355C>T (p.Arg119Trp) c.205C>T (p.Arg69Trp) c.322C>T (p.Arg108Trp) c.*177C>T (n.*177C>T) c.394C>T (p.Arg132Trp) c.523C>T (p.Arg175Trp) | ClinVar dbSNP |
19 | g.[13025339C>T;13025341G>A] | CA658832946 | NFIX | c.[343C>T;345G>A] (p.Arg115Ter) c.[164C>T;166G>A] c.[346C>T;348G>A] (p.[Arg116Trp;Arg116=]) c.[370C>T;372G>A] (p.[Arg124Trp;Arg124=]) c.[355C>T;357G>A] (p.[Arg119Trp;Arg119=]) c.[205C>T;207G>A] (p.[Arg69Trp;Arg69=]) c.[322C>T;324G>A] (p.[Arg108Trp;Arg108=]) c.[*177C>T;*179G>A] (n.[*177C>T;*179G>A]) c.[205C>T;207G>A] (p.Arg69Ter) c.[394C>T;396G>A] (p.[Arg132Trp;Arg132=]) c.[322C>T;324G>A] (p.Arg108Ter) c.[523C>T;525G>A] (p.[Arg175Trp;Arg175=]) c.[346C>T;348G>A] (p.Arg116Ter) c.[343C>T;345G>A] (p.[Arg115Trp;Arg115=]) c.[523C>T;525G>A] (p.Arg175Ser) | |
19 | g.13025339_13025341delinsTGA | CA2695228219 | NFIX | c.343_345delinsTGA (p.Arg115Ter) c.164_166delinsTGA c.346_348delinsTGA (p.Arg116Ter) c.370_372delinsTGA (p.Arg124Ter) c.355_357delinsTGA (p.Arg119Ter) c.205_207delinsTGA (p.Arg69Ter) c.322_324delinsTGA (p.Arg108Ter) c.*177_*179delinsTGA (n.*177_*179delinsTGA) c.394_396delinsTGA (p.Arg132Ter) c.523_525delinsTGA (p.Arg175Ter) | |
19 | g.13025340G>A | CA404314517 | NFIX | c.344G>A (p.Arg115Gln) c.165G>A c.347G>A (p.Arg116Gln) c.371G>A (p.Arg124Gln) c.356G>A (p.Arg119Gln) c.206G>A (p.Arg69Gln) c.323G>A (p.Arg108Gln) c.*178G>A (n.*178G>A) c.395G>A (p.Arg132Gln) c.524G>A (p.Arg175Gln) | ClinVar dbSNP |
19 | g.13025340G>C | CA404314518 | NFIX | c.344G>C (p.Arg115Pro) c.165G>C c.347G>C (p.Arg116Pro) c.371G>C (p.Arg124Pro) c.356G>C (p.Arg119Pro) c.206G>C (p.Arg69Pro) c.323G>C (p.Arg108Pro) c.*178G>C (n.*178G>C) c.395G>C (p.Arg132Pro) c.524G>C (p.Arg175Pro) | ClinVar |
19 | g.13025340G>T | CA404314519 | NFIX | c.344G>T (p.Arg115Leu) c.165G>T c.347G>T (p.Arg116Leu) c.371G>T (p.Arg124Leu) c.356G>T (p.Arg119Leu) c.206G>T (p.Arg69Leu) c.323G>T (p.Arg108Leu) c.*178G>T (n.*178G>T) c.395G>T (p.Arg132Leu) c.524G>T (p.Arg175Leu) | COSMIC COSMIC COSMIC |
19 | g.13025341G>A | CA505780751 | NFIX | c.345G>A (p.Arg115=) c.166G>A c.348G>A (p.Arg116=) c.372G>A (p.Arg124=) c.357G>A (p.Arg119=) c.207G>A (p.Arg69=) c.324G>A (p.Arg108=) c.*179G>A (n.*179G>A) c.396G>A (p.Arg132=) c.525G>A (p.Arg175=) | dbSNP |
19 | g.13025341G>C | CA505780752 | NFIX | c.345G>C (p.Arg115=) c.166G>C c.348G>C (p.Arg116=) c.372G>C (p.Arg124=) c.357G>C (p.Arg119=) c.207G>C (p.Arg69=) c.324G>C (p.Arg108=) c.*179G>C (n.*179G>C) c.396G>C (p.Arg132=) c.525G>C (p.Arg175=) | ClinVar dbSNP gnomAD v4 |
19 | g.13025341G= | CA2323688905 | NFIX | c.345G= (p.Arg115=) c.166G= c.348G= (p.Arg116=) c.372G= (p.Arg124=) c.357G= (p.Arg119=) c.207G= (p.Arg69=) c.324G= (p.Arg108=) c.*179G= (n.*179G=) c.396G= (p.Arg132=) c.525G= (p.Arg175=) | |
19 | g.13025341G>T | CA505780753 | NFIX | c.345G>T (p.Arg115=) c.166G>T c.348G>T (p.Arg116=) c.372G>T (p.Arg124=) c.357G>T (p.Arg119=) c.207G>T (p.Arg69=) c.324G>T (p.Arg108=) c.*179G>T (n.*179G>T) c.396G>T (p.Arg132=) c.525G>T (p.Arg175=) | |
19 | g.13025342A>C | CA404314520 | NFIX | c.346A>C (p.Ile116Leu) c.167A>C c.349A>C (p.Ile117Leu) c.373A>C (p.Ile125Leu) c.358A>C (p.Ile120Leu) c.208A>C (p.Ile70Leu) c.325A>C (p.Ile109Leu) c.*180A>C (n.*180A>C) c.397A>C (p.Ile133Leu) c.526A>C (p.Ile176Leu) | |
19 | g.13025342A>G | CA404314523 | NFIX | c.346A>G (p.Ile116Val) c.167A>G c.349A>G (p.Ile117Val) c.373A>G (p.Ile125Val) c.358A>G (p.Ile120Val) c.208A>G (p.Ile70Val) c.325A>G (p.Ile109Val) c.*180A>G (n.*180A>G) c.397A>G (p.Ile133Val) c.526A>G (p.Ile176Val) | |
19 | g.13025342A>T | CA404314525 | NFIX | c.346A>T (p.Ile116Phe) c.167A>T c.349A>T (p.Ile117Phe) c.373A>T (p.Ile125Phe) c.358A>T (p.Ile120Phe) c.208A>T (p.Ile70Phe) c.325A>T (p.Ile109Phe) c.*180A>T (n.*180A>T) c.397A>T (p.Ile133Phe) c.526A>T (p.Ile176Phe) | |
19 | g.13025343T>A | CA404314528 | NFIX | c.347T>A (p.Ile116Asn) c.168T>A c.350T>A (p.Ile117Asn) c.374T>A (p.Ile125Asn) c.359T>A (p.Ile120Asn) c.209T>A (p.Ile70Asn) c.326T>A (p.Ile109Asn) c.*181T>A (n.*181T>A) c.398T>A (p.Ile133Asn) c.527T>A (p.Ile176Asn) | |
19 | g.13025343T>C | CA404314530 | NFIX | c.347T>C (p.Ile116Thr) c.168T>C c.350T>C (p.Ile117Thr) c.374T>C (p.Ile125Thr) c.359T>C (p.Ile120Thr) c.209T>C (p.Ile70Thr) c.326T>C (p.Ile109Thr) c.*181T>C (n.*181T>C) c.398T>C (p.Ile133Thr) c.527T>C (p.Ile176Thr) | |
19 | g.13025343T>G | CA404314527 | NFIX | c.347T>G (p.Ile116Ser) c.168T>G c.350T>G (p.Ile117Ser) c.374T>G (p.Ile125Ser) c.359T>G (p.Ile120Ser) c.209T>G (p.Ile70Ser) c.326T>G (p.Ile109Ser) c.*181T>G (n.*181T>G) c.398T>G (p.Ile133Ser) c.527T>G (p.Ile176Ser) | |
19 | g.13025343_13025360del | CA2813656097 | NFIX | c.347_364del (p.Ile116_Ala122delinsThr) c.168_185del c.350_367del (p.Ile117_Ala123delinsThr) c.374_391del (p.Ile125_Ala131delinsThr) c.359_376del (p.Ile120_Ala126delinsThr) c.209_226del (p.Ile70_Ala76delinsThr) c.326_343del (p.Ile109_Ala115delinsThr) c.*181_*198del (n.*181_*198del) c.398_415del (p.Ile133_Ala139delinsThr) c.527_544del (p.Ile176_Ala182delinsThr) | |
19 | g.13025344T>A | CA505780754 | NFIX | c.348T>A (p.Ile116=) c.169T>A c.351T>A (p.Ile117=) c.375T>A (p.Ile125=) c.360T>A (p.Ile120=) c.210T>A (p.Ile70=) c.327T>A (p.Ile109=) c.*182T>A (n.*182T>A) c.399T>A (p.Ile133=) c.528T>A (p.Ile176=) | |
19 | g.13025344T>C | CA505780755 | NFIX | c.348T>C (p.Ile116=) c.169T>C c.351T>C (p.Ile117=) c.375T>C (p.Ile125=) c.360T>C (p.Ile120=) c.210T>C (p.Ile70=) c.327T>C (p.Ile109=) c.*182T>C (n.*182T>C) c.399T>C (p.Ile133=) c.528T>C (p.Ile176=) | |
19 | g.13025344T>G | CA404314540 | NFIX | c.348T>G (p.Ile116Met) c.169T>G c.351T>G (p.Ile117Met) c.375T>G (p.Ile125Met) c.360T>G (p.Ile120Met) c.210T>G (p.Ile70Met) c.327T>G (p.Ile109Met) c.*182T>G (n.*182T>G) c.399T>G (p.Ile133Met) c.528T>G (p.Ile176Met) | dbSNP |
19 | g.13025344T= | CA2323688906 | NFIX | c.348T= (p.Ile116=) c.169T= c.351T= (p.Ile117=) c.375T= (p.Ile125=) c.360T= (p.Ile120=) c.210T= (p.Ile70=) c.327T= (p.Ile109=) c.*182T= (n.*182T=) c.399T= (p.Ile133=) c.528T= (p.Ile176=) | |
19 | g.13025345G>A | CA404314543 | NFIX | c.349G>A (p.Asp117Asn) c.170G>A c.352G>A (p.Asp118Asn) c.376G>A (p.Asp126Asn) c.361G>A (p.Asp121Asn) c.211G>A (p.Asp71Asn) c.328G>A (p.Asp110Asn) c.*183G>A (n.*183G>A) c.400G>A (p.Asp134Asn) c.529G>A (p.Asp177Asn) | |
19 | g.13025345G>C | CA404314545 | NFIX | c.349G>C (p.Asp117His) c.170G>C c.352G>C (p.Asp118His) c.376G>C (p.Asp126His) c.361G>C (p.Asp121His) c.211G>C (p.Asp71His) c.328G>C (p.Asp110His) c.*183G>C (n.*183G>C) c.400G>C (p.Asp134His) c.529G>C (p.Asp177His) | |
19 | g.13025345G>T | CA404314556 | NFIX | c.349G>T (p.Asp117Tyr) c.170G>T c.352G>T (p.Asp118Tyr) c.376G>T (p.Asp126Tyr) c.361G>T (p.Asp121Tyr) c.211G>T (p.Asp71Tyr) c.328G>T (p.Asp110Tyr) c.*183G>T (n.*183G>T) c.400G>T (p.Asp134Tyr) c.529G>T (p.Asp177Tyr) | |
19 | g.13025346A= | CA2323688907 | NFIX | c.350A= (p.Asp117=) c.171A= c.353A= (p.Asp118=) c.377A= (p.Asp126=) c.362A= (p.Asp121=) c.212A= (p.Asp71=) c.329A= (p.Asp110=) c.*184A= (n.*184A=) c.401A= (p.Asp134=) c.530A= (p.Asp177=) | |
19 | g.13025346A>C | CA404314559 | NFIX | c.350A>C (p.Asp117Ala) c.171A>C c.353A>C (p.Asp118Ala) c.377A>C (p.Asp126Ala) c.362A>C (p.Asp121Ala) c.212A>C (p.Asp71Ala) c.329A>C (p.Asp110Ala) c.*184A>C (n.*184A>C) c.401A>C (p.Asp134Ala) c.530A>C (p.Asp177Ala) | |
19 | g.13025346A>G | CA404314560 | NFIX | c.350A>G (p.Asp117Gly) c.171A>G c.353A>G (p.Asp118Gly) c.377A>G (p.Asp126Gly) c.362A>G (p.Asp121Gly) c.212A>G (p.Asp71Gly) c.329A>G (p.Asp110Gly) c.*184A>G (n.*184A>G) c.401A>G (p.Asp134Gly) c.530A>G (p.Asp177Gly) | dbSNP gnomAD v2 |
19 | g.13025346A>T | CA404314561 | NFIX | c.350A>T (p.Asp117Val) c.171A>T c.353A>T (p.Asp118Val) c.377A>T (p.Asp126Val) c.362A>T (p.Asp121Val) c.212A>T (p.Asp71Val) c.329A>T (p.Asp110Val) c.*184A>T (n.*184A>T) c.401A>T (p.Asp134Val) c.530A>T (p.Asp177Val) | |
19 | g.13025347C>A | CA404314562 | NFIX | c.351C>A (p.Asp117Glu) c.172C>A c.354C>A (p.Asp118Glu) c.378C>A (p.Asp126Glu) c.363C>A (p.Asp121Glu) c.213C>A (p.Asp71Glu) c.330C>A (p.Asp110Glu) c.*185C>A (n.*185C>A) c.402C>A (p.Asp134Glu) c.531C>A (p.Asp177Glu) | |
19 | g.13025347C>G | CA404314563 | NFIX | c.351C>G (p.Asp117Glu) c.172C>G c.354C>G (p.Asp118Glu) c.378C>G (p.Asp126Glu) c.363C>G (p.Asp121Glu) c.213C>G (p.Asp71Glu) c.330C>G (p.Asp110Glu) c.*185C>G (n.*185C>G) c.402C>G (p.Asp134Glu) c.531C>G (p.Asp177Glu) | |
19 | g.13025347C>T | CA505780756 | NFIX | c.351C>T (p.Asp117=) c.172C>T c.354C>T (p.Asp118=) c.378C>T (p.Asp126=) c.363C>T (p.Asp121=) c.213C>T (p.Asp71=) c.330C>T (p.Asp110=) c.*185C>T (n.*185C>T) c.402C>T (p.Asp134=) c.531C>T (p.Asp177=) | |
19 | g.13025348T>A | CA404314565 | NFIX | c.352T>A (p.Cys118Ser) c.173T>A c.355T>A (p.Cys119Ser) c.379T>A (p.Cys127Ser) c.364T>A (p.Cys122Ser) c.214T>A (p.Cys72Ser) c.331T>A (p.Cys111Ser) c.*186T>A (n.*186T>A) c.403T>A (p.Cys135Ser) c.532T>A (p.Cys178Ser) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13025348T>C | CA404314566 | NFIX | c.352T>C (p.Cys118Arg) c.173T>C c.355T>C (p.Cys119Arg) c.379T>C (p.Cys127Arg) c.364T>C (p.Cys122Arg) c.214T>C (p.Cys72Arg) c.331T>C (p.Cys111Arg) c.*186T>C (n.*186T>C) c.403T>C (p.Cys135Arg) c.532T>C (p.Cys178Arg) | ClinVar |
19 | g.13025348T>G | CA404314567 | NFIX | c.352T>G (p.Cys118Gly) c.173T>G c.355T>G (p.Cys119Gly) c.379T>G (p.Cys127Gly) c.364T>G (p.Cys122Gly) c.214T>G (p.Cys72Gly) c.331T>G (p.Cys111Gly) c.*186T>G (n.*186T>G) c.403T>G (p.Cys135Gly) c.532T>G (p.Cys178Gly) | |
19 | g.13025349G>A | CA404314570 | NFIX | c.353G>A (p.Cys118Tyr) c.174G>A c.356G>A (p.Cys119Tyr) c.380G>A (p.Cys127Tyr) c.365G>A (p.Cys122Tyr) c.215G>A (p.Cys72Tyr) c.332G>A (p.Cys111Tyr) c.*187G>A (n.*187G>A) c.404G>A (p.Cys135Tyr) c.533G>A (p.Cys178Tyr) | |
19 | g.13025349G>C | CA404314572 | NFIX | c.353G>C (p.Cys118Ser) c.174G>C c.356G>C (p.Cys119Ser) c.380G>C (p.Cys127Ser) c.365G>C (p.Cys122Ser) c.215G>C (p.Cys72Ser) c.332G>C (p.Cys111Ser) c.*187G>C (n.*187G>C) c.404G>C (p.Cys135Ser) c.533G>C (p.Cys178Ser) | |
19 | g.13025349G>T | CA404314573 | NFIX | c.353G>T (p.Cys118Phe) c.174G>T c.356G>T (p.Cys119Phe) c.380G>T (p.Cys127Phe) c.365G>T (p.Cys122Phe) c.215G>T (p.Cys72Phe) c.332G>T (p.Cys111Phe) c.*187G>T (n.*187G>T) c.404G>T (p.Cys135Phe) c.533G>T (p.Cys178Phe) | |
19 | g.13025349_13025350delinsGC | CA2323688908 | NFIX | c.353_354delinsGC (p.Cys118=) c.174_175delinsGC c.356_357delinsGC (p.Cys119=) c.380_381delinsGC (p.Cys127=) c.365_366delinsGC (p.Cys122=) c.215_216delinsGC (p.Cys72=) c.332_333delinsGC (p.Cys111=) c.*187_*188delinsGC (n.*187_*188delinsGC) c.404_405delinsGC (p.Cys135=) c.533_534delinsGC (p.Cys178=) | |
19 | g.13025350C>A | CA404314576 | NFIX | c.354C>A (p.Cys118Ter) c.175C>A c.357C>A (p.Cys119Ter) c.381C>A (p.Cys127Ter) c.366C>A (p.Cys122Ter) c.216C>A (p.Cys72Ter) c.333C>A (p.Cys111Ter) c.*188C>A (n.*188C>A) c.405C>A (p.Cys135Ter) c.534C>A (p.Cys178Ter) | |
19 | g.13025350C= | CA2323688909 | NFIX | c.354C= (p.Cys118=) c.175C= c.357C= (p.Cys119=) c.381C= (p.Cys127=) c.366C= (p.Cys122=) c.216C= (p.Cys72=) c.333C= (p.Cys111=) c.*188C= (n.*188C=) c.405C= (p.Cys135=) c.534C= (p.Cys178=) | |
19 | g.13025350C>G | CA404314578 | NFIX | c.354C>G (p.Cys118Trp) c.175C>G c.357C>G (p.Cys119Trp) c.381C>G (p.Cys127Trp) c.366C>G (p.Cys122Trp) c.216C>G (p.Cys72Trp) c.333C>G (p.Cys111Trp) c.*188C>G (n.*188C>G) c.405C>G (p.Cys135Trp) c.534C>G (p.Cys178Trp) | |
19 | g.13025350C>T | CA505780757 | NFIX | c.354C>T (p.Cys118=) c.175C>T c.357C>T (p.Cys119=) c.381C>T (p.Cys127=) c.366C>T (p.Cys122=) c.216C>T (p.Cys72=) c.333C>T (p.Cys111=) c.*188C>T (n.*188C>T) c.405C>T (p.Cys135=) c.534C>T (p.Cys178=) | ClinVar dbSNP gnomAD v4 |
19 | g.13025351del | CA658799166 | NFIX | c.355del (p.Leu119CysfsTer15) c.176del c.358del (p.Leu120CysfsTer15) c.382del (p.Leu128CysfsTer15) c.367del (p.Leu123CysfsTer15) c.217del (p.Leu73CysfsTer12) c.334del (p.Leu112CysfsTer15) c.*189del (n.*189del) c.217del (p.Leu73CysfsTer15) c.406del (p.Leu136CysfsTer15) c.535del (p.Leu179CysfsTer15) | ClinVar dbSNP |
19 | g.13025351C>A | CA404314579 | NFIX | c.355C>A (p.Leu119Met) c.176C>A c.358C>A (p.Leu120Met) c.382C>A (p.Leu128Met) c.367C>A (p.Leu123Met) c.217C>A (p.Leu73Met) c.334C>A (p.Leu112Met) c.*189C>A (n.*189C>A) c.406C>A (p.Leu136Met) c.535C>A (p.Leu179Met) | |
19 | g.13025351C>G | CA404314580 | NFIX | c.355C>G (p.Leu119Val) c.176C>G c.358C>G (p.Leu120Val) c.382C>G (p.Leu128Val) c.367C>G (p.Leu123Val) c.217C>G (p.Leu73Val) c.334C>G (p.Leu112Val) c.*189C>G (n.*189C>G) c.406C>G (p.Leu136Val) c.535C>G (p.Leu179Val) | |
19 | g.13025351C>T | CA505780758 | NFIX | c.355C>T (p.Leu119=) c.176C>T c.358C>T (p.Leu120=) c.382C>T (p.Leu128=) c.367C>T (p.Leu123=) c.217C>T (p.Leu73=) c.334C>T (p.Leu112=) c.*189C>T (n.*189C>T) c.406C>T (p.Leu136=) c.535C>T (p.Leu179=) | |
19 | g.13025352T>A | CA404314581 | NFIX | c.356T>A (p.Leu119Gln) c.177T>A c.359T>A (p.Leu120Gln) c.383T>A (p.Leu128Gln) c.368T>A (p.Leu123Gln) c.218T>A (p.Leu73Gln) c.335T>A (p.Leu112Gln) c.*190T>A (n.*190T>A) c.407T>A (p.Leu136Gln) c.536T>A (p.Leu179Gln) | |
19 | g.13025352T>C | CA404314582 | NFIX | c.356T>C (p.Leu119Pro) c.177T>C c.359T>C (p.Leu120Pro) c.383T>C (p.Leu128Pro) c.368T>C (p.Leu123Pro) c.218T>C (p.Leu73Pro) c.335T>C (p.Leu112Pro) c.*190T>C (n.*190T>C) c.407T>C (p.Leu136Pro) c.536T>C (p.Leu179Pro) | |
19 | g.13025352T>G | CA404314584 | NFIX | c.356T>G (p.Leu119Arg) c.177T>G c.359T>G (p.Leu120Arg) c.383T>G (p.Leu128Arg) c.368T>G (p.Leu123Arg) c.218T>G (p.Leu73Arg) c.335T>G (p.Leu112Arg) c.*190T>G (n.*190T>G) c.407T>G (p.Leu136Arg) c.536T>G (p.Leu179Arg) | ClinVar |
19 | g.13025353G>A | CA9236976 | NFIX | c.357G>A (p.Leu119=) c.178G>A c.360G>A (p.Leu120=) c.384G>A (p.Leu128=) c.369G>A (p.Leu123=) c.219G>A (p.Leu73=) c.336G>A (p.Leu112=) c.*191G>A (n.*191G>A) c.408G>A (p.Leu136=) c.537G>A (p.Leu179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13025353G>C | CA505780759 | NFIX | c.357G>C (p.Leu119=) c.178G>C c.360G>C (p.Leu120=) c.384G>C (p.Leu128=) c.369G>C (p.Leu123=) c.219G>C (p.Leu73=) c.336G>C (p.Leu112=) c.*191G>C (n.*191G>C) c.408G>C (p.Leu136=) c.537G>C (p.Leu179=) | |
19 | g.13025353G= | CA2323688910 | NFIX | c.357G= (p.Leu119=) c.178G= c.360G= (p.Leu120=) c.384G= (p.Leu128=) c.369G= (p.Leu123=) c.219G= (p.Leu73=) c.336G= (p.Leu112=) c.*191G= (n.*191G=) c.408G= (p.Leu136=) c.537G= (p.Leu179=) | |
19 | g.13025353G>T | CA505780760 | NFIX | c.357G>T (p.Leu119=) c.178G>T c.360G>T (p.Leu120=) c.384G>T (p.Leu128=) c.369G>T (p.Leu123=) c.219G>T (p.Leu73=) c.336G>T (p.Leu112=) c.*191G>T (n.*191G>T) c.408G>T (p.Leu136=) c.537G>T (p.Leu179=) | |
19 | g.13025354C>A | CA404314587 | NFIX | c.358C>A (p.Arg120Ser) c.179C>A c.361C>A (p.Arg121Ser) c.385C>A (p.Arg129Ser) c.370C>A (p.Arg124Ser) c.220C>A (p.Arg74Ser) c.337C>A (p.Arg113Ser) c.*192C>A (n.*192C>A) c.409C>A (p.Arg137Ser) c.538C>A (p.Arg180Ser) | |
19 | g.13025354C= | CA2323688911 | NFIX | c.358C= (p.Arg120=) c.179C= c.361C= (p.Arg121=) c.385C= (p.Arg129=) c.370C= (p.Arg124=) c.220C= (p.Arg74=) c.337C= (p.Arg113=) c.*192C= (n.*192C=) c.409C= (p.Arg137=) c.538C= (p.Arg180=) | |
19 | g.13025354C>G | CA404314590 | NFIX | c.358C>G (p.Arg120Gly) c.179C>G c.361C>G (p.Arg121Gly) c.385C>G (p.Arg129Gly) c.370C>G (p.Arg124Gly) c.220C>G (p.Arg74Gly) c.337C>G (p.Arg113Gly) c.*192C>G (n.*192C>G) c.409C>G (p.Arg137Gly) c.538C>G (p.Arg180Gly) | |
19 | g.13025354C>T | CA204763 | NFIX | c.358C>T (p.Arg120Cys) c.179C>T c.361C>T (p.Arg121Cys) c.385C>T (p.Arg129Cys) c.370C>T (p.Arg124Cys) c.220C>T (p.Arg74Cys) c.337C>T (p.Arg113Cys) c.*192C>T (n.*192C>T) c.409C>T (p.Arg137Cys) c.538C>T (p.Arg180Cys) | ClinVar dbSNP |
19 | g.13025355G>A | CA404314592 | NFIX | c.359G>A (p.Arg120His) c.180G>A c.362G>A (p.Arg121His) c.386G>A (p.Arg129His) c.371G>A (p.Arg124His) c.221G>A (p.Arg74His) c.338G>A (p.Arg113His) c.*193G>A (n.*193G>A) c.410G>A (p.Arg137His) c.539G>A (p.Arg180His) | |
19 | g.13025355G>C | CA130007 | NFIX | c.359G>C (p.Arg120Pro) c.180G>C c.362G>C (p.Arg121Pro) c.386G>C (p.Arg129Pro) c.371G>C (p.Arg124Pro) c.221G>C (p.Arg74Pro) c.338G>C (p.Arg113Pro) c.*193G>C (n.*193G>C) c.410G>C (p.Arg137Pro) c.539G>C (p.Arg180Pro) | ClinVar dbSNP |
19 | g.13025355G= | CA2323688912 | NFIX | c.359G= (p.Arg120=) c.180G= c.362G= (p.Arg121=) c.386G= (p.Arg129=) c.371G= (p.Arg124=) c.221G= (p.Arg74=) c.338G= (p.Arg113=) c.*193G= (n.*193G=) c.410G= (p.Arg137=) c.539G= (p.Arg180=) | |
19 | g.13025355G>T | CA404314593 | NFIX | c.359G>T (p.Arg120Leu) c.180G>T c.362G>T (p.Arg121Leu) c.386G>T (p.Arg129Leu) c.371G>T (p.Arg124Leu) c.221G>T (p.Arg74Leu) c.338G>T (p.Arg113Leu) c.*193G>T (n.*193G>T) c.410G>T (p.Arg137Leu) c.539G>T (p.Arg180Leu) | |
19 | g.13025356C>A | CA505780761 | NFIX | c.360C>A (p.Arg120=) c.181C>A c.363C>A (p.Arg121=) c.387C>A (p.Arg129=) c.372C>A (p.Arg124=) c.222C>A (p.Arg74=) c.339C>A (p.Arg113=) c.*194C>A (n.*194C>A) c.411C>A (p.Arg137=) c.540C>A (p.Arg180=) | |
19 | g.13025356C= | CA2323688913 | NFIX | c.360C= (p.Arg120=) c.181C= c.363C= (p.Arg121=) c.387C= (p.Arg129=) c.372C= (p.Arg124=) c.222C= (p.Arg74=) c.339C= (p.Arg113=) c.*194C= (n.*194C=) c.411C= (p.Arg137=) c.540C= (p.Arg180=) | |
19 | g.13025356C>G | CA505780762 | NFIX | c.360C>G (p.Arg120=) c.181C>G c.363C>G (p.Arg121=) c.387C>G (p.Arg129=) c.372C>G (p.Arg124=) c.222C>G (p.Arg74=) c.339C>G (p.Arg113=) c.*194C>G (n.*194C>G) c.411C>G (p.Arg137=) c.540C>G (p.Arg180=) | |
19 | g.13025356C>T | CA505780763 | NFIX | c.360C>T (p.Arg120=) c.181C>T c.363C>T (p.Arg121=) c.387C>T (p.Arg129=) c.372C>T (p.Arg124=) c.222C>T (p.Arg74=) c.339C>T (p.Arg113=) c.*194C>T (n.*194C>T) c.411C>T (p.Arg137=) c.540C>T (p.Arg180=) | dbSNP |
19 | g.13025357C>A | CA404314606 | NFIX | c.361C>A (p.Gln121Lys) c.182C>A c.364C>A (p.Gln122Lys) c.388C>A (p.Gln130Lys) c.373C>A (p.Gln125Lys) c.223C>A (p.Gln75Lys) c.340C>A (p.Gln114Lys) c.*195C>A (n.*195C>A) c.412C>A (p.Gln138Lys) c.541C>A (p.Gln181Lys) | |
19 | g.13025357C>G | CA404314607 | NFIX | c.361C>G (p.Gln121Glu) c.182C>G c.364C>G (p.Gln122Glu) c.388C>G (p.Gln130Glu) c.373C>G (p.Gln125Glu) c.223C>G (p.Gln75Glu) c.340C>G (p.Gln114Glu) c.*195C>G (n.*195C>G) c.412C>G (p.Gln138Glu) c.541C>G (p.Gln181Glu) | |
19 | g.13025357C>T | CA404314598 | NFIX | c.361C>T (p.Gln121Ter) c.182C>T c.364C>T (p.Gln122Ter) c.388C>T (p.Gln130Ter) c.373C>T (p.Gln125Ter) c.223C>T (p.Gln75Ter) c.340C>T (p.Gln114Ter) c.*195C>T (n.*195C>T) c.412C>T (p.Gln138Ter) c.541C>T (p.Gln181Ter) |