| 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.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.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) |