Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.13081679_13081696delinsGGGAGCCCCCGGGCCACA | CA2323714179 | NFIX | c.953-1_969delinsGGGAGCCCCCGGGCCACA c.1075+2944_1075+2961delinsGGGAGCCCCCGGGCCACA (n.1075+2944_1075+2961delinsGGGAGCCCCCGGGCCACA) c.773+6008_773+6025delinsGGGAGCCCCCGGGCCACA c.1079-1_1095delinsGGGAGCCCCCGGGCCACA c.1103-1_1119delinsGGGAGCCCCCGGGCCACA c.965-1_981delinsGGGAGCCCCCGGGCCACA c.*448-1_*464delinsGGGAGCCCCCGGGCCACA c.1055-1_1071delinsGGGAGCCCCCGGGCCACA c.*910-1_*926delinsGGGAGCCCCCGGGCCACA c.1076-1_1092delinsGGGAGCCCCCGGGCCACA c.938-1_954delinsGGGAGCCCCCGGGCCACA c.1133-1_1149delinsGGGAGCCCCCGGGCCACA c.1256-1_1272delinsGGGAGCCCCCGGGCCACA c.1255+2944_1255+2961delinsGGGAGCCCCCGGGCCACA (n.1255+2944_1255+2961delinsGGGAGCCCCCGGGCCACA) c.1132+6008_1132+6025delinsGGGAGCCCCCGGGCCACA (n.1132+6008_1132+6025delinsGGGAGCCCCCGGGCCACA) c.1127-1_1143delinsGGGAGCCCCCGGGCCACA c.956-1_972delinsGGGAGCCCCCGGGCCACA | |
19 | g.13081681_13081697del | CA205694 | NFIX | c.954_970del (p.Ser319IlefsTer?) c.1075+2946_1075+2962del (n.1075+2946_1075+2962del) c.773+6010_773+6026del c.1080_1096del (p.Ser361IlefsTer?) c.1104_1120del (p.Ser369IlefsTer?) c.966_982del (p.Ser323IlefsTer?) c.*449_*465del (n.*449_*465del) c.1056_1072del (p.Ser353IlefsTer?) c.*911_*927del (n.*911_*927del) c.1077_1093del (p.Ser360IlefsTer?) c.939_955del (p.Ser314IlefsTer?) c.1134_1150del (p.Ser379IlefsTer?) c.1257_1273del (p.Ser420IlefsTer?) c.1255+2946_1255+2962del (n.1255+2946_1255+2962del) c.1132+6010_1132+6026del (n.1132+6010_1132+6026del) c.1128_1144del (p.Ser377IlefsTer?) c.957_973del (p.Ser320IlefsTer?) | ClinVar dbSNP |
19 | g.13081691dup | CA2573320354 | NFIX | c.964dup (p.Ala322GlyfsTer?) c.1075+2956dup (n.1075+2956dup) c.773+6020dup c.1090dup (p.Ala364GlyfsTer?) c.1114dup (p.Ala372GlyfsTer?) c.976dup (p.Ala326GlyfsTer?) c.*459dup (n.*459dup) c.1066dup (p.Ala356GlyfsTer?) c.*921dup (n.*921dup) c.1087dup (p.Ala363GlyfsTer?) c.949dup (p.Ala317GlyfsTer?) c.1144dup (p.Ala382GlyfsTer?) c.1267dup (p.Ala423GlyfsTer?) c.1255+2956dup (n.1255+2956dup) c.1132+6020dup (n.1132+6020dup) c.1138dup (p.Ala380GlyfsTer?) c.967dup (p.Ala323GlyfsTer?) | ClinVar |
19 | g.13081691del | CA2735778069 | NFIX | c.964del (p.Ala322ProfsTer?) c.1075+2956del (n.1075+2956del) c.773+6020del c.1090del (p.Ala364ProfsTer?) c.1114del (p.Ala372ProfsTer?) c.976del (p.Ala326ProfsTer?) c.*459del (n.*459del) c.1066del (p.Ala356ProfsTer?) c.*921del (n.*921del) c.1087del (p.Ala363ProfsTer?) c.949del (p.Ala317ProfsTer?) c.1144del (p.Ala382ProfsTer?) c.1267del (p.Ala423ProfsTer?) c.1255+2956del (n.1255+2956del) c.1132+6020del (n.1132+6020del) c.1138del (p.Ala380ProfsTer?) c.967del (p.Ala323ProfsTer?) | dbSNP |
19 | g.13081691G>A | CA404303584 | NFIX | c.964G>A (p.Ala322Thr) c.1075+2956G>A (n.1075+2956G>A) c.773+6020G>A c.1090G>A (p.Ala364Thr) c.1114G>A (p.Ala372Thr) c.976G>A (p.Ala326Thr) c.*459G>A (n.*459G>A) c.1066G>A (p.Ala356Thr) c.*921G>A (n.*921G>A) c.1087G>A (p.Ala363Thr) c.949G>A (p.Ala317Thr) c.1144G>A (p.Ala382Thr) c.1267G>A (p.Ala423Thr) c.1255+2956G>A (n.1255+2956G>A) c.1132+6020G>A (n.1132+6020G>A) c.1138G>A (p.Ala380Thr) c.967G>A (p.Ala323Thr) | |
19 | g.13081691G>C | CA404303589 | NFIX | c.964G>C (p.Ala322Pro) c.1075+2956G>C (n.1075+2956G>C) c.773+6020G>C c.1090G>C (p.Ala364Pro) c.1114G>C (p.Ala372Pro) c.976G>C (p.Ala326Pro) c.*459G>C (n.*459G>C) c.1066G>C (p.Ala356Pro) c.*921G>C (n.*921G>C) c.1087G>C (p.Ala363Pro) c.949G>C (p.Ala317Pro) c.1144G>C (p.Ala382Pro) c.1267G>C (p.Ala423Pro) c.1255+2956G>C (n.1255+2956G>C) c.1132+6020G>C (n.1132+6020G>C) c.1138G>C (p.Ala380Pro) c.967G>C (p.Ala323Pro) | |
19 | g.13081691G>T | CA404303594 | NFIX | c.964G>T (p.Ala322Ser) c.1075+2956G>T (n.1075+2956G>T) c.773+6020G>T c.1090G>T (p.Ala364Ser) c.1114G>T (p.Ala372Ser) c.976G>T (p.Ala326Ser) c.*459G>T (n.*459G>T) c.1066G>T (p.Ala356Ser) c.*921G>T (n.*921G>T) c.1087G>T (p.Ala363Ser) c.949G>T (p.Ala317Ser) c.1144G>T (p.Ala382Ser) c.1267G>T (p.Ala423Ser) c.1255+2956G>T (n.1255+2956G>T) c.1132+6020G>T (n.1132+6020G>T) c.1138G>T (p.Ala380Ser) c.967G>T (p.Ala323Ser) | |
19 | g.13081692C>A | CA404303604 | NFIX | c.965C>A (p.Ala322Asp) c.1075+2957C>A (n.1075+2957C>A) c.773+6021C>A c.1091C>A (p.Ala364Asp) c.1115C>A (p.Ala372Asp) c.977C>A (p.Ala326Asp) c.*460C>A (n.*460C>A) c.1067C>A (p.Ala356Asp) c.*922C>A (n.*922C>A) c.1088C>A (p.Ala363Asp) c.950C>A (p.Ala317Asp) c.1145C>A (p.Ala382Asp) c.1268C>A (p.Ala423Asp) c.1255+2957C>A (n.1255+2957C>A) c.1132+6021C>A (n.1132+6021C>A) c.1139C>A (p.Ala380Asp) c.968C>A (p.Ala323Asp) | gnomAD v4 |
19 | g.13081692C>G | CA404303607 | NFIX | c.965C>G (p.Ala322Gly) c.1075+2957C>G (n.1075+2957C>G) c.773+6021C>G c.1091C>G (p.Ala364Gly) c.1115C>G (p.Ala372Gly) c.977C>G (p.Ala326Gly) c.*460C>G (n.*460C>G) c.1067C>G (p.Ala356Gly) c.*922C>G (n.*922C>G) c.1088C>G (p.Ala363Gly) c.950C>G (p.Ala317Gly) c.1145C>G (p.Ala382Gly) c.1268C>G (p.Ala423Gly) c.1255+2957C>G (n.1255+2957C>G) c.1132+6021C>G (n.1132+6021C>G) c.1139C>G (p.Ala380Gly) c.968C>G (p.Ala323Gly) | |
19 | g.13081692C>T | CA404303616 | NFIX | c.965C>T (p.Ala322Val) c.1075+2957C>T (n.1075+2957C>T) c.773+6021C>T c.1091C>T (p.Ala364Val) c.1115C>T (p.Ala372Val) c.977C>T (p.Ala326Val) c.*460C>T (n.*460C>T) c.1067C>T (p.Ala356Val) c.*922C>T (n.*922C>T) c.1088C>T (p.Ala363Val) c.950C>T (p.Ala317Val) c.1145C>T (p.Ala382Val) c.1268C>T (p.Ala423Val) c.1255+2957C>T (n.1255+2957C>T) c.1132+6021C>T (n.1132+6021C>T) c.1139C>T (p.Ala380Val) c.968C>T (p.Ala323Val) | |
19 | g.13081693C>A | CA505651437 | NFIX | c.966C>A (p.Ala322=) c.1075+2958C>A (n.1075+2958C>A) c.773+6022C>A c.1092C>A (p.Ala364=) c.1116C>A (p.Ala372=) c.978C>A (p.Ala326=) c.*461C>A (n.*461C>A) c.1068C>A (p.Ala356=) c.*923C>A (n.*923C>A) c.1089C>A (p.Ala363=) c.951C>A (p.Ala317=) c.1146C>A (p.Ala382=) c.1269C>A (p.Ala423=) c.1255+2958C>A (n.1255+2958C>A) c.1132+6022C>A (n.1132+6022C>A) c.1140C>A (p.Ala380=) c.969C>A (p.Ala323=) | |
19 | g.13081693C>G | CA505651436 | NFIX | c.966C>G (p.Ala322=) c.1075+2958C>G (n.1075+2958C>G) c.773+6022C>G c.1092C>G (p.Ala364=) c.1116C>G (p.Ala372=) c.978C>G (p.Ala326=) c.*461C>G (n.*461C>G) c.1068C>G (p.Ala356=) c.*923C>G (n.*923C>G) c.1089C>G (p.Ala363=) c.951C>G (p.Ala317=) c.1146C>G (p.Ala382=) c.1269C>G (p.Ala423=) c.1255+2958C>G (n.1255+2958C>G) c.1132+6022C>G (n.1132+6022C>G) c.1140C>G (p.Ala380=) c.969C>G (p.Ala323=) | |
19 | g.13081693C>T | CA505651435 | NFIX | c.966C>T (p.Ala322=) c.1075+2958C>T (n.1075+2958C>T) c.773+6022C>T c.1092C>T (p.Ala364=) c.1116C>T (p.Ala372=) c.978C>T (p.Ala326=) c.*461C>T (n.*461C>T) c.1068C>T (p.Ala356=) c.*923C>T (n.*923C>T) c.1089C>T (p.Ala363=) c.951C>T (p.Ala317=) c.1146C>T (p.Ala382=) c.1269C>T (p.Ala423=) c.1255+2958C>T (n.1255+2958C>T) c.1132+6022C>T (n.1132+6022C>T) c.1140C>T (p.Ala380=) c.969C>T (p.Ala323=) | |
19 | g.13081694A>C | CA404303621 | NFIX | c.967A>C (p.Thr323Pro) c.1075+2959A>C (n.1075+2959A>C) c.773+6023A>C c.1093A>C (p.Thr365Pro) c.1117A>C (p.Thr373Pro) c.979A>C (p.Thr327Pro) c.*462A>C (n.*462A>C) c.1069A>C (p.Thr357Pro) c.*924A>C (n.*924A>C) c.1090A>C (p.Thr364Pro) c.952A>C (p.Thr318Pro) c.1147A>C (p.Thr383Pro) c.1270A>C (p.Thr424Pro) c.1255+2959A>C (n.1255+2959A>C) c.1132+6023A>C (n.1132+6023A>C) c.1141A>C (p.Thr381Pro) c.970A>C (p.Thr324Pro) | |
19 | g.13081694A>G | CA404303622 | NFIX | c.967A>G (p.Thr323Ala) c.1075+2959A>G (n.1075+2959A>G) c.773+6023A>G c.1093A>G (p.Thr365Ala) c.1117A>G (p.Thr373Ala) c.979A>G (p.Thr327Ala) c.*462A>G (n.*462A>G) c.1069A>G (p.Thr357Ala) c.*924A>G (n.*924A>G) c.1090A>G (p.Thr364Ala) c.952A>G (p.Thr318Ala) c.1147A>G (p.Thr383Ala) c.1270A>G (p.Thr424Ala) c.1255+2959A>G (n.1255+2959A>G) c.1132+6023A>G (n.1132+6023A>G) c.1141A>G (p.Thr381Ala) c.970A>G (p.Thr324Ala) | |
19 | g.13081694A>T | CA404303625 | NFIX | c.967A>T (p.Thr323Ser) c.1075+2959A>T (n.1075+2959A>T) c.773+6023A>T c.1093A>T (p.Thr365Ser) c.1117A>T (p.Thr373Ser) c.979A>T (p.Thr327Ser) c.*462A>T (n.*462A>T) c.1069A>T (p.Thr357Ser) c.*924A>T (n.*924A>T) c.1090A>T (p.Thr364Ser) c.952A>T (p.Thr318Ser) c.1147A>T (p.Thr383Ser) c.1270A>T (p.Thr424Ser) c.1255+2959A>T (n.1255+2959A>T) c.1132+6023A>T (n.1132+6023A>T) c.1141A>T (p.Thr381Ser) c.970A>T (p.Thr324Ser) | |
19 | g.13081695C>A | CA404303632 | NFIX | c.968C>A (p.Thr323Lys) c.1075+2960C>A (n.1075+2960C>A) c.773+6024C>A c.1094C>A (p.Thr365Lys) c.1118C>A (p.Thr373Lys) c.980C>A (p.Thr327Lys) c.*463C>A (n.*463C>A) c.1070C>A (p.Thr357Lys) c.*925C>A (n.*925C>A) c.1091C>A (p.Thr364Lys) c.953C>A (p.Thr318Lys) c.1148C>A (p.Thr383Lys) c.1271C>A (p.Thr424Lys) c.1255+2960C>A (n.1255+2960C>A) c.1132+6024C>A (n.1132+6024C>A) c.1142C>A (p.Thr381Lys) c.971C>A (p.Thr324Lys) | |
19 | g.13081695C>G | CA404303636 | NFIX | c.968C>G (p.Thr323Arg) c.1075+2960C>G (n.1075+2960C>G) c.773+6024C>G c.1094C>G (p.Thr365Arg) c.1118C>G (p.Thr373Arg) c.980C>G (p.Thr327Arg) c.*463C>G (n.*463C>G) c.1070C>G (p.Thr357Arg) c.*925C>G (n.*925C>G) c.1091C>G (p.Thr364Arg) c.953C>G (p.Thr318Arg) c.1148C>G (p.Thr383Arg) c.1271C>G (p.Thr424Arg) c.1255+2960C>G (n.1255+2960C>G) c.1132+6024C>G (n.1132+6024C>G) c.1142C>G (p.Thr381Arg) c.971C>G (p.Thr324Arg) | |
19 | g.13081695C>T | CA404303629 | NFIX | c.968C>T (p.Thr323Ile) c.1075+2960C>T (n.1075+2960C>T) c.773+6024C>T c.1094C>T (p.Thr365Ile) c.1118C>T (p.Thr373Ile) c.980C>T (p.Thr327Ile) c.*463C>T (n.*463C>T) c.1070C>T (p.Thr357Ile) c.*925C>T (n.*925C>T) c.1091C>T (p.Thr364Ile) c.953C>T (p.Thr318Ile) c.1148C>T (p.Thr383Ile) c.1271C>T (p.Thr424Ile) c.1255+2960C>T (n.1255+2960C>T) c.1132+6024C>T (n.1132+6024C>T) c.1142C>T (p.Thr381Ile) c.971C>T (p.Thr324Ile) | |
19 | g.13081696A= | CA2323714187 | NFIX | c.969A= (p.Thr323=) c.1075+2961A= (n.1075+2961A=) c.773+6025A= c.1095A= (p.Thr365=) c.1119A= (p.Thr373=) c.981A= (p.Thr327=) c.*464A= (n.*464A=) c.1071A= (p.Thr357=) c.*926A= (n.*926A=) c.1092A= (p.Thr364=) c.954A= (p.Thr318=) c.1149A= (p.Thr383=) c.1272A= (p.Thr424=) c.1255+2961A= (n.1255+2961A=) c.1132+6025A= (n.1132+6025A=) c.1143A= (p.Thr381=) c.972A= (p.Thr324=) | |
19 | g.13081696A>C | CA505651439 | NFIX | c.969A>C (p.Thr323=) c.1075+2961A>C (n.1075+2961A>C) c.773+6025A>C c.1095A>C (p.Thr365=) c.1119A>C (p.Thr373=) c.981A>C (p.Thr327=) c.*464A>C (n.*464A>C) c.1071A>C (p.Thr357=) c.*926A>C (n.*926A>C) c.1092A>C (p.Thr364=) c.954A>C (p.Thr318=) c.1149A>C (p.Thr383=) c.1272A>C (p.Thr424=) c.1255+2961A>C (n.1255+2961A>C) c.1132+6025A>C (n.1132+6025A>C) c.1143A>C (p.Thr381=) c.972A>C (p.Thr324=) | |
19 | g.13081696A>G | CA305560629 | NFIX | c.969A>G (p.Thr323=) c.1075+2961A>G (n.1075+2961A>G) c.773+6025A>G c.1095A>G (p.Thr365=) c.1119A>G (p.Thr373=) c.981A>G (p.Thr327=) c.*464A>G (n.*464A>G) c.1071A>G (p.Thr357=) c.*926A>G (n.*926A>G) c.1092A>G (p.Thr364=) c.954A>G (p.Thr318=) c.1149A>G (p.Thr383=) c.1272A>G (p.Thr424=) c.1255+2961A>G (n.1255+2961A>G) c.1132+6025A>G (n.1132+6025A>G) c.1143A>G (p.Thr381=) c.972A>G (p.Thr324=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081696A>T | CA505651438 | NFIX | c.969A>T (p.Thr323=) c.1075+2961A>T (n.1075+2961A>T) c.773+6025A>T c.1095A>T (p.Thr365=) c.1119A>T (p.Thr373=) c.981A>T (p.Thr327=) c.*464A>T (n.*464A>T) c.1071A>T (p.Thr357=) c.*926A>T (n.*926A>T) c.1092A>T (p.Thr364=) c.954A>T (p.Thr318=) c.1149A>T (p.Thr383=) c.1272A>T (p.Thr424=) c.1255+2961A>T (n.1255+2961A>T) c.1132+6025A>T (n.1132+6025A>T) c.1143A>T (p.Thr381=) c.972A>T (p.Thr324=) | |
19 | g.13081697G>A | CA404303645 | NFIX | c.970G>A (p.Ala324Thr) c.1075+2962G>A (n.1075+2962G>A) c.773+6026G>A c.1096G>A (p.Ala366Thr) c.1120G>A (p.Ala374Thr) c.982G>A (p.Ala328Thr) c.*465G>A (n.*465G>A) c.1072G>A (p.Ala358Thr) c.*927G>A (n.*927G>A) c.1093G>A (p.Ala365Thr) c.955G>A (p.Ala319Thr) c.1150G>A (p.Ala384Thr) c.1273G>A (p.Ala425Thr) c.1255+2962G>A (n.1255+2962G>A) c.1132+6026G>A (n.1132+6026G>A) c.1144G>A (p.Ala382Thr) c.973G>A (p.Ala325Thr) | gnomAD v4 |
19 | g.13081697G>C | CA404303647 | NFIX | c.970G>C (p.Ala324Pro) c.1075+2962G>C (n.1075+2962G>C) c.773+6026G>C c.1096G>C (p.Ala366Pro) c.1120G>C (p.Ala374Pro) c.982G>C (p.Ala328Pro) c.*465G>C (n.*465G>C) c.1072G>C (p.Ala358Pro) c.*927G>C (n.*927G>C) c.1093G>C (p.Ala365Pro) c.955G>C (p.Ala319Pro) c.1150G>C (p.Ala384Pro) c.1273G>C (p.Ala425Pro) c.1255+2962G>C (n.1255+2962G>C) c.1132+6026G>C (n.1132+6026G>C) c.1144G>C (p.Ala382Pro) c.973G>C (p.Ala325Pro) | |
19 | g.13081697G>T | CA404303649 | NFIX | c.970G>T (p.Ala324Ser) c.1075+2962G>T (n.1075+2962G>T) c.773+6026G>T c.1096G>T (p.Ala366Ser) c.1120G>T (p.Ala374Ser) c.982G>T (p.Ala328Ser) c.*465G>T (n.*465G>T) c.1072G>T (p.Ala358Ser) c.*927G>T (n.*927G>T) c.1093G>T (p.Ala365Ser) c.955G>T (p.Ala319Ser) c.1150G>T (p.Ala384Ser) c.1273G>T (p.Ala425Ser) c.1255+2962G>T (n.1255+2962G>T) c.1132+6026G>T (n.1132+6026G>T) c.1144G>T (p.Ala382Ser) c.973G>T (p.Ala325Ser) | |
19 | g.13081698C>A | CA404303651 | NFIX | c.971C>A (p.Ala324Glu) c.1075+2963C>A (n.1075+2963C>A) c.773+6027C>A c.1097C>A (p.Ala366Glu) c.1121C>A (p.Ala374Glu) c.983C>A (p.Ala328Glu) c.*466C>A (n.*466C>A) c.1073C>A (p.Ala358Glu) c.*928C>A (n.*928C>A) c.1094C>A (p.Ala365Glu) c.956C>A (p.Ala319Glu) c.1151C>A (p.Ala384Glu) c.1274C>A (p.Ala425Glu) c.1255+2963C>A (n.1255+2963C>A) c.1132+6027C>A (n.1132+6027C>A) c.1145C>A (p.Ala382Glu) c.974C>A (p.Ala325Glu) | gnomAD v4 |
19 | g.13081698C= | CA2323714188 | NFIX | c.971C= (p.Ala324=) c.1075+2963C= (n.1075+2963C=) c.773+6027C= c.1097C= (p.Ala366=) c.1121C= (p.Ala374=) c.983C= (p.Ala328=) c.*466C= (n.*466C=) c.1073C= (p.Ala358=) c.*928C= (n.*928C=) c.1094C= (p.Ala365=) c.956C= (p.Ala319=) c.1151C= (p.Ala384=) c.1274C= (p.Ala425=) c.1255+2963C= (n.1255+2963C=) c.1132+6027C= (n.1132+6027C=) c.1145C= (p.Ala382=) c.974C= (p.Ala325=) | |
19 | g.13081698C>G | CA404303652 | NFIX | c.971C>G (p.Ala324Gly) c.1075+2963C>G (n.1075+2963C>G) c.773+6027C>G c.1097C>G (p.Ala366Gly) c.1121C>G (p.Ala374Gly) c.983C>G (p.Ala328Gly) c.*466C>G (n.*466C>G) c.1073C>G (p.Ala358Gly) c.*928C>G (n.*928C>G) c.1094C>G (p.Ala365Gly) c.956C>G (p.Ala319Gly) c.1151C>G (p.Ala384Gly) c.1274C>G (p.Ala425Gly) c.1255+2963C>G (n.1255+2963C>G) c.1132+6027C>G (n.1132+6027C>G) c.1145C>G (p.Ala382Gly) c.974C>G (p.Ala325Gly) | |
19 | g.13081698C>T | CA9237140 | NFIX | c.971C>T (p.Ala324Val) c.1075+2963C>T (n.1075+2963C>T) c.773+6027C>T c.1097C>T (p.Ala366Val) c.1121C>T (p.Ala374Val) c.983C>T (p.Ala328Val) c.*466C>T (n.*466C>T) c.1073C>T (p.Ala358Val) c.*928C>T (n.*928C>T) c.1094C>T (p.Ala365Val) c.956C>T (p.Ala319Val) c.1151C>T (p.Ala384Val) c.1274C>T (p.Ala425Val) c.1255+2963C>T (n.1255+2963C>T) c.1132+6027C>T (n.1132+6027C>T) c.1145C>T (p.Ala382Val) c.974C>T (p.Ala325Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081699A= | CA2323714189 | NFIX | c.972A= (p.Ala324=) c.1075+2964A= (n.1075+2964A=) c.773+6028A= c.1098A= (p.Ala366=) c.1122A= (p.Ala374=) c.984A= (p.Ala328=) c.*467A= (n.*467A=) c.1074A= (p.Ala358=) c.*929A= (n.*929A=) c.1095A= (p.Ala365=) c.957A= (p.Ala319=) c.1152A= (p.Ala384=) c.1275A= (p.Ala425=) c.1255+2964A= (n.1255+2964A=) c.1132+6028A= (n.1132+6028A=) c.1146A= (p.Ala382=) c.975A= (p.Ala325=) | |
19 | g.13081699A>C | CA505651440 | NFIX | c.972A>C (p.Ala324=) c.1075+2964A>C (n.1075+2964A>C) c.773+6028A>C c.1098A>C (p.Ala366=) c.1122A>C (p.Ala374=) c.984A>C (p.Ala328=) c.*467A>C (n.*467A>C) c.1074A>C (p.Ala358=) c.*929A>C (n.*929A>C) c.1095A>C (p.Ala365=) c.957A>C (p.Ala319=) c.1152A>C (p.Ala384=) c.1275A>C (p.Ala425=) c.1255+2964A>C (n.1255+2964A>C) c.1132+6028A>C (n.1132+6028A>C) c.1146A>C (p.Ala382=) c.975A>C (p.Ala325=) | |
19 | g.13081699A>G | CA505651442 | NFIX | c.972A>G (p.Ala324=) c.1075+2964A>G (n.1075+2964A>G) c.773+6028A>G c.1098A>G (p.Ala366=) c.1122A>G (p.Ala374=) c.984A>G (p.Ala328=) c.*467A>G (n.*467A>G) c.1074A>G (p.Ala358=) c.*929A>G (n.*929A>G) c.1095A>G (p.Ala365=) c.957A>G (p.Ala319=) c.1152A>G (p.Ala384=) c.1275A>G (p.Ala425=) c.1255+2964A>G (n.1255+2964A>G) c.1132+6028A>G (n.1132+6028A>G) c.1146A>G (p.Ala382=) c.975A>G (p.Ala325=) | dbSNP gnomAD v4 |
19 | g.13081699A>T | CA505651441 | NFIX | c.972A>T (p.Ala324=) c.1075+2964A>T (n.1075+2964A>T) c.773+6028A>T c.1098A>T (p.Ala366=) c.1122A>T (p.Ala374=) c.984A>T (p.Ala328=) c.*467A>T (n.*467A>T) c.1074A>T (p.Ala358=) c.*929A>T (n.*929A>T) c.1095A>T (p.Ala365=) c.957A>T (p.Ala319=) c.1152A>T (p.Ala384=) c.1275A>T (p.Ala425=) c.1255+2964A>T (n.1255+2964A>T) c.1132+6028A>T (n.1132+6028A>T) c.1146A>T (p.Ala382=) c.975A>T (p.Ala325=) | |
19 | g.13081700T>A | CA404303659 | NFIX | c.973T>A (p.Ser325Thr) c.1075+2965T>A (n.1075+2965T>A) c.773+6029T>A c.1099T>A (p.Ser367Thr) c.1123T>A (p.Ser375Thr) c.985T>A (p.Ser329Thr) c.*468T>A (n.*468T>A) c.1075T>A (p.Ser359Thr) c.*930T>A (n.*930T>A) c.1096T>A (p.Ser366Thr) c.958T>A (p.Ser320Thr) c.1153T>A (p.Ser385Thr) c.1276T>A (p.Ser426Thr) c.1255+2965T>A (n.1255+2965T>A) c.1132+6029T>A (n.1132+6029T>A) c.1147T>A (p.Ser383Thr) c.976T>A (p.Ser326Thr) | dbSNP |
19 | g.13081700T>C | CA404303662 | NFIX | c.973T>C (p.Ser325Pro) c.1075+2965T>C (n.1075+2965T>C) c.773+6029T>C c.1099T>C (p.Ser367Pro) c.1123T>C (p.Ser375Pro) c.985T>C (p.Ser329Pro) c.*468T>C (n.*468T>C) c.1075T>C (p.Ser359Pro) c.*930T>C (n.*930T>C) c.1096T>C (p.Ser366Pro) c.958T>C (p.Ser320Pro) c.1153T>C (p.Ser385Pro) c.1276T>C (p.Ser426Pro) c.1255+2965T>C (n.1255+2965T>C) c.1132+6029T>C (n.1132+6029T>C) c.1147T>C (p.Ser383Pro) c.976T>C (p.Ser326Pro) | |
19 | g.13081700T>G | CA404303665 | NFIX | c.973T>G (p.Ser325Ala) c.1075+2965T>G (n.1075+2965T>G) c.773+6029T>G c.1099T>G (p.Ser367Ala) c.1123T>G (p.Ser375Ala) c.985T>G (p.Ser329Ala) c.*468T>G (n.*468T>G) c.1075T>G (p.Ser359Ala) c.*930T>G (n.*930T>G) c.1096T>G (p.Ser366Ala) c.958T>G (p.Ser320Ala) c.1153T>G (p.Ser385Ala) c.1276T>G (p.Ser426Ala) c.1255+2965T>G (n.1255+2965T>G) c.1132+6029T>G (n.1132+6029T>G) c.1147T>G (p.Ser383Ala) c.976T>G (p.Ser326Ala) | |
19 | g.13081700T= | CA2323714190 | NFIX | c.973T= (p.Ser325=) c.1075+2965T= (n.1075+2965T=) c.773+6029T= c.1099T= (p.Ser367=) c.1123T= (p.Ser375=) c.985T= (p.Ser329=) c.*468T= (n.*468T=) c.1075T= (p.Ser359=) c.*930T= (n.*930T=) c.1096T= (p.Ser366=) c.958T= (p.Ser320=) c.1153T= (p.Ser385=) c.1276T= (p.Ser426=) c.1255+2965T= (n.1255+2965T=) c.1132+6029T= (n.1132+6029T=) c.1147T= (p.Ser383=) c.976T= (p.Ser326=) | |
19 | g.13081701C>A | CA404303671 | NFIX | c.974C>A (p.Ser325Ter) c.1075+2966C>A (n.1075+2966C>A) c.773+6030C>A c.1100C>A (p.Ser367Ter) c.1124C>A (p.Ser375Ter) c.986C>A (p.Ser329Ter) c.*469C>A (n.*469C>A) c.1076C>A (p.Ser359Ter) c.*931C>A (n.*931C>A) c.1097C>A (p.Ser366Ter) c.959C>A (p.Ser320Ter) c.1154C>A (p.Ser385Ter) c.1277C>A (p.Ser426Ter) c.1255+2966C>A (n.1255+2966C>A) c.1132+6030C>A (n.1132+6030C>A) c.1148C>A (p.Ser383Ter) c.977C>A (p.Ser326Ter) | |
19 | g.13081701C>G | CA404303675 | NFIX | c.974C>G (p.Ser325Ter) c.1075+2966C>G (n.1075+2966C>G) c.773+6030C>G c.1100C>G (p.Ser367Ter) c.1124C>G (p.Ser375Ter) c.986C>G (p.Ser329Ter) c.*469C>G (n.*469C>G) c.1076C>G (p.Ser359Ter) c.*931C>G (n.*931C>G) c.1097C>G (p.Ser366Ter) c.959C>G (p.Ser320Ter) c.1154C>G (p.Ser385Ter) c.1277C>G (p.Ser426Ter) c.1255+2966C>G (n.1255+2966C>G) c.1132+6030C>G (n.1132+6030C>G) c.1148C>G (p.Ser383Ter) c.977C>G (p.Ser326Ter) | |
19 | g.13081701C>T | CA404303677 | NFIX | c.974C>T (p.Ser325Leu) c.1075+2966C>T (n.1075+2966C>T) c.773+6030C>T c.1100C>T (p.Ser367Leu) c.1124C>T (p.Ser375Leu) c.986C>T (p.Ser329Leu) c.*469C>T (n.*469C>T) c.1076C>T (p.Ser359Leu) c.*931C>T (n.*931C>T) c.1097C>T (p.Ser366Leu) c.959C>T (p.Ser320Leu) c.1154C>T (p.Ser385Leu) c.1277C>T (p.Ser426Leu) c.1255+2966C>T (n.1255+2966C>T) c.1132+6030C>T (n.1132+6030C>T) c.1148C>T (p.Ser383Leu) c.977C>T (p.Ser326Leu) | |
19 | g.13081702A>C | CA505651443 | NFIX | c.975A>C (p.Ser325=) c.1075+2967A>C (n.1075+2967A>C) c.773+6031A>C c.1101A>C (p.Ser367=) c.1125A>C (p.Ser375=) c.987A>C (p.Ser329=) c.*470A>C (n.*470A>C) c.1077A>C (p.Ser359=) c.*932A>C (n.*932A>C) c.1098A>C (p.Ser366=) c.960A>C (p.Ser320=) c.1155A>C (p.Ser385=) c.1278A>C (p.Ser426=) c.1255+2967A>C (n.1255+2967A>C) c.1132+6031A>C (n.1132+6031A>C) c.1149A>C (p.Ser383=) c.978A>C (p.Ser326=) | |
19 | g.13081702A>G | CA505651444 | NFIX | c.975A>G (p.Ser325=) c.1075+2967A>G (n.1075+2967A>G) c.773+6031A>G c.1101A>G (p.Ser367=) c.1125A>G (p.Ser375=) c.987A>G (p.Ser329=) c.*470A>G (n.*470A>G) c.1077A>G (p.Ser359=) c.*932A>G (n.*932A>G) c.1098A>G (p.Ser366=) c.960A>G (p.Ser320=) c.1155A>G (p.Ser385=) c.1278A>G (p.Ser426=) c.1255+2967A>G (n.1255+2967A>G) c.1132+6031A>G (n.1132+6031A>G) c.1149A>G (p.Ser383=) c.978A>G (p.Ser326=) | |
19 | g.13081702A>T | CA505651445 | NFIX | c.975A>T (p.Ser325=) c.1075+2967A>T (n.1075+2967A>T) c.773+6031A>T c.1101A>T (p.Ser367=) c.1125A>T (p.Ser375=) c.987A>T (p.Ser329=) c.*470A>T (n.*470A>T) c.1077A>T (p.Ser359=) c.*932A>T (n.*932A>T) c.1098A>T (p.Ser366=) c.960A>T (p.Ser320=) c.1155A>T (p.Ser385=) c.1278A>T (p.Ser426=) c.1255+2967A>T (n.1255+2967A>T) c.1132+6031A>T (n.1132+6031A>T) c.1149A>T (p.Ser383=) c.978A>T (p.Ser326=) | |
19 | g.13081703G>A | CA404303679 | NFIX | c.976G>A (p.Ala326Thr) c.1075+2968G>A (n.1075+2968G>A) c.773+6032G>A c.1102G>A (p.Ala368Thr) c.1126G>A (p.Ala376Thr) c.988G>A (p.Ala330Thr) c.*471G>A (n.*471G>A) c.1078G>A (p.Ala360Thr) c.*933G>A (n.*933G>A) c.1099G>A (p.Ala367Thr) c.961G>A (p.Ala321Thr) c.1156G>A (p.Ala386Thr) c.1279G>A (p.Ala427Thr) c.1255+2968G>A (n.1255+2968G>A) c.1132+6032G>A (n.1132+6032G>A) c.1150G>A (p.Ala384Thr) c.979G>A (p.Ala327Thr) | gnomAD v4 |
19 | g.13081703G>C | CA404303680 | NFIX | c.976G>C (p.Ala326Pro) c.1075+2968G>C (n.1075+2968G>C) c.773+6032G>C c.1102G>C (p.Ala368Pro) c.1126G>C (p.Ala376Pro) c.988G>C (p.Ala330Pro) c.*471G>C (n.*471G>C) c.1078G>C (p.Ala360Pro) c.*933G>C (n.*933G>C) c.1099G>C (p.Ala367Pro) c.961G>C (p.Ala321Pro) c.1156G>C (p.Ala386Pro) c.1279G>C (p.Ala427Pro) c.1255+2968G>C (n.1255+2968G>C) c.1132+6032G>C (n.1132+6032G>C) c.1150G>C (p.Ala384Pro) c.979G>C (p.Ala327Pro) | |
19 | g.13081703G>T | CA404303678 | NFIX | c.976G>T (p.Ala326Ser) c.1075+2968G>T (n.1075+2968G>T) c.773+6032G>T c.1102G>T (p.Ala368Ser) c.1126G>T (p.Ala376Ser) c.988G>T (p.Ala330Ser) c.*471G>T (n.*471G>T) c.1078G>T (p.Ala360Ser) c.*933G>T (n.*933G>T) c.1099G>T (p.Ala367Ser) c.961G>T (p.Ala321Ser) c.1156G>T (p.Ala386Ser) c.1279G>T (p.Ala427Ser) c.1255+2968G>T (n.1255+2968G>T) c.1132+6032G>T (n.1132+6032G>T) c.1150G>T (p.Ala384Ser) c.979G>T (p.Ala327Ser) | |
19 | g.13081704C>A | CA404303681 | NFIX | c.977C>A (p.Ala326Asp) c.1075+2969C>A (n.1075+2969C>A) c.773+6033C>A c.1103C>A (p.Ala368Asp) c.1127C>A (p.Ala376Asp) c.989C>A (p.Ala330Asp) c.*472C>A (n.*472C>A) c.1079C>A (p.Ala360Asp) c.*934C>A (n.*934C>A) c.1100C>A (p.Ala367Asp) c.962C>A (p.Ala321Asp) c.1157C>A (p.Ala386Asp) c.1280C>A (p.Ala427Asp) c.1255+2969C>A (n.1255+2969C>A) c.1132+6033C>A (n.1132+6033C>A) c.1151C>A (p.Ala384Asp) c.980C>A (p.Ala327Asp) | dbSNP gnomAD v2 |
19 | g.13081704C= | CA2323714191 | NFIX | c.977C= (p.Ala326=) c.1075+2969C= (n.1075+2969C=) c.773+6033C= c.1103C= (p.Ala368=) c.1127C= (p.Ala376=) c.989C= (p.Ala330=) c.*472C= (n.*472C=) c.1079C= (p.Ala360=) c.*934C= (n.*934C=) c.1100C= (p.Ala367=) c.962C= (p.Ala321=) c.1157C= (p.Ala386=) c.1280C= (p.Ala427=) c.1255+2969C= (n.1255+2969C=) c.1132+6033C= (n.1132+6033C=) c.1151C= (p.Ala384=) c.980C= (p.Ala327=) | |
19 | g.13081704C>G | CA404303683 | NFIX | c.977C>G (p.Ala326Gly) c.1075+2969C>G (n.1075+2969C>G) c.773+6033C>G c.1103C>G (p.Ala368Gly) c.1127C>G (p.Ala376Gly) c.989C>G (p.Ala330Gly) c.*472C>G (n.*472C>G) c.1079C>G (p.Ala360Gly) c.*934C>G (n.*934C>G) c.1100C>G (p.Ala367Gly) c.962C>G (p.Ala321Gly) c.1157C>G (p.Ala386Gly) c.1280C>G (p.Ala427Gly) c.1255+2969C>G (n.1255+2969C>G) c.1132+6033C>G (n.1132+6033C>G) c.1151C>G (p.Ala384Gly) c.980C>G (p.Ala327Gly) | |
19 | g.13081704C>T | CA404303684 | NFIX | c.977C>T (p.Ala326Val) c.1075+2969C>T (n.1075+2969C>T) c.773+6033C>T c.1103C>T (p.Ala368Val) c.1127C>T (p.Ala376Val) c.989C>T (p.Ala330Val) c.*472C>T (n.*472C>T) c.1079C>T (p.Ala360Val) c.*934C>T (n.*934C>T) c.1100C>T (p.Ala367Val) c.962C>T (p.Ala321Val) c.1157C>T (p.Ala386Val) c.1280C>T (p.Ala427Val) c.1255+2969C>T (n.1255+2969C>T) c.1132+6033C>T (n.1132+6033C>T) c.1151C>T (p.Ala384Val) c.980C>T (p.Ala327Val) | |
19 | g.13081705C>A | CA505651446 | NFIX | c.978C>A (p.Ala326=) c.1075+2970C>A (n.1075+2970C>A) c.773+6034C>A c.1104C>A (p.Ala368=) c.1128C>A (p.Ala376=) c.990C>A (p.Ala330=) c.*473C>A (n.*473C>A) c.1080C>A (p.Ala360=) c.*935C>A (n.*935C>A) c.1101C>A (p.Ala367=) c.963C>A (p.Ala321=) c.1158C>A (p.Ala386=) c.1281C>A (p.Ala427=) c.1255+2970C>A (n.1255+2970C>A) c.1132+6034C>A (n.1132+6034C>A) c.1152C>A (p.Ala384=) c.981C>A (p.Ala327=) | |
19 | g.13081705C= | CA2323714192 | NFIX | c.978C= (p.Ala326=) c.1075+2970C= (n.1075+2970C=) c.773+6034C= c.1104C= (p.Ala368=) c.1128C= (p.Ala376=) c.990C= (p.Ala330=) c.*473C= (n.*473C=) c.1080C= (p.Ala360=) c.*935C= (n.*935C=) c.1101C= (p.Ala367=) c.963C= (p.Ala321=) c.1158C= (p.Ala386=) c.1281C= (p.Ala427=) c.1255+2970C= (n.1255+2970C=) c.1132+6034C= (n.1132+6034C=) c.1152C= (p.Ala384=) c.981C= (p.Ala327=) | |
19 | g.13081705C>G | CA505651447 | NFIX | c.978C>G (p.Ala326=) c.1075+2970C>G (n.1075+2970C>G) c.773+6034C>G c.1104C>G (p.Ala368=) c.1128C>G (p.Ala376=) c.990C>G (p.Ala330=) c.*473C>G (n.*473C>G) c.1080C>G (p.Ala360=) c.*935C>G (n.*935C>G) c.1101C>G (p.Ala367=) c.963C>G (p.Ala321=) c.1158C>G (p.Ala386=) c.1281C>G (p.Ala427=) c.1255+2970C>G (n.1255+2970C>G) c.1132+6034C>G (n.1132+6034C>G) c.1152C>G (p.Ala384=) c.981C>G (p.Ala327=) | |
19 | g.13081705C>T | CA305560638 | NFIX | c.978C>T (p.Ala326=) c.1075+2970C>T (n.1075+2970C>T) c.773+6034C>T c.1104C>T (p.Ala368=) c.1128C>T (p.Ala376=) c.990C>T (p.Ala330=) c.*473C>T (n.*473C>T) c.1080C>T (p.Ala360=) c.*935C>T (n.*935C>T) c.1101C>T (p.Ala367=) c.963C>T (p.Ala321=) c.1158C>T (p.Ala386=) c.1281C>T (p.Ala427=) c.1255+2970C>T (n.1255+2970C>T) c.1132+6034C>T (n.1132+6034C>T) c.1152C>T (p.Ala384=) c.981C>T (p.Ala327=) | dbSNP gnomAD v4 |
19 | g.13081706C>A | CA404303685 | NFIX | c.979C>A (p.Leu327Met) c.1075+2971C>A (n.1075+2971C>A) c.773+6035C>A c.1105C>A (p.Leu369Met) c.1129C>A (p.Leu377Met) c.991C>A (p.Leu331Met) c.*474C>A (n.*474C>A) c.1081C>A (p.Leu361Met) c.*936C>A (n.*936C>A) c.1102C>A (p.Leu368Met) c.964C>A (p.Leu322Met) c.1159C>A (p.Leu387Met) c.1282C>A (p.Leu428Met) c.1255+2971C>A (n.1255+2971C>A) c.1132+6035C>A (n.1132+6035C>A) c.1153C>A (p.Leu385Met) c.982C>A (p.Leu328Met) | |
19 | g.13081706C>G | CA404303686 | NFIX | c.979C>G (p.Leu327Val) c.1075+2971C>G (n.1075+2971C>G) c.773+6035C>G c.1105C>G (p.Leu369Val) c.1129C>G (p.Leu377Val) c.991C>G (p.Leu331Val) c.*474C>G (n.*474C>G) c.1081C>G (p.Leu361Val) c.*936C>G (n.*936C>G) c.1102C>G (p.Leu368Val) c.964C>G (p.Leu322Val) c.1159C>G (p.Leu387Val) c.1282C>G (p.Leu428Val) c.1255+2971C>G (n.1255+2971C>G) c.1132+6035C>G (n.1132+6035C>G) c.1153C>G (p.Leu385Val) c.982C>G (p.Leu328Val) | |
19 | g.13081706C>T | CA505651448 | NFIX | c.979C>T (p.Leu327=) c.1075+2971C>T (n.1075+2971C>T) c.773+6035C>T c.1105C>T (p.Leu369=) c.1129C>T (p.Leu377=) c.991C>T (p.Leu331=) c.*474C>T (n.*474C>T) c.1081C>T (p.Leu361=) c.*936C>T (n.*936C>T) c.1102C>T (p.Leu368=) c.964C>T (p.Leu322=) c.1159C>T (p.Leu387=) c.1282C>T (p.Leu428=) c.1255+2971C>T (n.1255+2971C>T) c.1132+6035C>T (n.1132+6035C>T) c.1153C>T (p.Leu385=) c.982C>T (p.Leu328=) | |
19 | g.13081707T>A | CA404303690 | NFIX | c.980T>A (p.Leu327Gln) c.1075+2972T>A (n.1075+2972T>A) c.773+6036T>A c.1106T>A (p.Leu369Gln) c.1130T>A (p.Leu377Gln) c.992T>A (p.Leu331Gln) c.*475T>A (n.*475T>A) c.1082T>A (p.Leu361Gln) c.*937T>A (n.*937T>A) c.1103T>A (p.Leu368Gln) c.965T>A (p.Leu322Gln) c.1160T>A (p.Leu387Gln) c.1283T>A (p.Leu428Gln) c.1255+2972T>A (n.1255+2972T>A) c.1132+6036T>A (n.1132+6036T>A) c.1154T>A (p.Leu385Gln) c.983T>A (p.Leu328Gln) | |
19 | g.13081707T>C | CA404303688 | NFIX | c.980T>C (p.Leu327Pro) c.1075+2972T>C (n.1075+2972T>C) c.773+6036T>C c.1106T>C (p.Leu369Pro) c.1130T>C (p.Leu377Pro) c.992T>C (p.Leu331Pro) c.*475T>C (n.*475T>C) c.1082T>C (p.Leu361Pro) c.*937T>C (n.*937T>C) c.1103T>C (p.Leu368Pro) c.965T>C (p.Leu322Pro) c.1160T>C (p.Leu387Pro) c.1283T>C (p.Leu428Pro) c.1255+2972T>C (n.1255+2972T>C) c.1132+6036T>C (n.1132+6036T>C) c.1154T>C (p.Leu385Pro) c.983T>C (p.Leu328Pro) | |
19 | g.13081707T>G | CA404303689 | NFIX | c.980T>G (p.Leu327Arg) c.1075+2972T>G (n.1075+2972T>G) c.773+6036T>G c.1106T>G (p.Leu369Arg) c.1130T>G (p.Leu377Arg) c.992T>G (p.Leu331Arg) c.*475T>G (n.*475T>G) c.1082T>G (p.Leu361Arg) c.*937T>G (n.*937T>G) c.1103T>G (p.Leu368Arg) c.965T>G (p.Leu322Arg) c.1160T>G (p.Leu387Arg) c.1283T>G (p.Leu428Arg) c.1255+2972T>G (n.1255+2972T>G) c.1132+6036T>G (n.1132+6036T>G) c.1154T>G (p.Leu385Arg) c.983T>G (p.Leu328Arg) | |
19 | g.13081708G>A | CA505651449 | NFIX | c.981G>A (p.Leu327=) c.1075+2973G>A (n.1075+2973G>A) c.773+6037G>A c.1107G>A (p.Leu369=) c.1131G>A (p.Leu377=) c.993G>A (p.Leu331=) c.*476G>A (n.*476G>A) c.1083G>A (p.Leu361=) c.*938G>A (n.*938G>A) c.1104G>A (p.Leu368=) c.966G>A (p.Leu322=) c.1161G>A (p.Leu387=) c.1284G>A (p.Leu428=) c.1255+2973G>A (n.1255+2973G>A) c.1132+6037G>A (n.1132+6037G>A) c.1155G>A (p.Leu385=) c.984G>A (p.Leu328=) | dbSNP |
19 | g.13081708G>C | CA505651450 | NFIX | c.981G>C (p.Leu327=) c.1075+2973G>C (n.1075+2973G>C) c.773+6037G>C c.1107G>C (p.Leu369=) c.1131G>C (p.Leu377=) c.993G>C (p.Leu331=) c.*476G>C (n.*476G>C) c.1083G>C (p.Leu361=) c.*938G>C (n.*938G>C) c.1104G>C (p.Leu368=) c.966G>C (p.Leu322=) c.1161G>C (p.Leu387=) c.1284G>C (p.Leu428=) c.1255+2973G>C (n.1255+2973G>C) c.1132+6037G>C (n.1132+6037G>C) c.1155G>C (p.Leu385=) c.984G>C (p.Leu328=) | gnomAD v4 |
19 | g.13081708G= | CA2323714193 | NFIX | c.981G= (p.Leu327=) c.1075+2973G= (n.1075+2973G=) c.773+6037G= c.1107G= (p.Leu369=) c.1131G= (p.Leu377=) c.993G= (p.Leu331=) c.*476G= (n.*476G=) c.1083G= (p.Leu361=) c.*938G= (n.*938G=) c.1104G= (p.Leu368=) c.966G= (p.Leu322=) c.1161G= (p.Leu387=) c.1284G= (p.Leu428=) c.1255+2973G= (n.1255+2973G=) c.1132+6037G= (n.1132+6037G=) c.1155G= (p.Leu385=) c.984G= (p.Leu328=) | |
19 | g.13081708G>T | CA505651451 | NFIX | c.981G>T (p.Leu327=) c.1075+2973G>T (n.1075+2973G>T) c.773+6037G>T c.1107G>T (p.Leu369=) c.1131G>T (p.Leu377=) c.993G>T (p.Leu331=) c.*476G>T (n.*476G>T) c.1083G>T (p.Leu361=) c.*938G>T (n.*938G>T) c.1104G>T (p.Leu368=) c.966G>T (p.Leu322=) c.1161G>T (p.Leu387=) c.1284G>T (p.Leu428=) c.1255+2973G>T (n.1255+2973G>T) c.1132+6037G>T (n.1132+6037G>T) c.1155G>T (p.Leu385=) c.984G>T (p.Leu328=) | |
19 | g.13081709C>A | CA404303693 | NFIX | c.982C>A (p.His328Asn) c.1075+2974C>A (n.1075+2974C>A) c.773+6038C>A c.1108C>A (p.His370Asn) c.1132C>A (p.His378Asn) c.994C>A (p.His332Asn) c.*477C>A (n.*477C>A) c.1084C>A (p.His362Asn) c.*939C>A (n.*939C>A) c.1105C>A (p.His369Asn) c.967C>A (p.His323Asn) c.1162C>A (p.His388Asn) c.1285C>A (p.His429Asn) c.1255+2974C>A (n.1255+2974C>A) c.1132+6038C>A (n.1132+6038C>A) c.1156C>A (p.His386Asn) c.985C>A (p.His329Asn) | |
19 | g.13081709C>G | CA404303695 | NFIX | c.982C>G (p.His328Asp) c.1075+2974C>G (n.1075+2974C>G) c.773+6038C>G c.1108C>G (p.His370Asp) c.1132C>G (p.His378Asp) c.994C>G (p.His332Asp) c.*477C>G (n.*477C>G) c.1084C>G (p.His362Asp) c.*939C>G (n.*939C>G) c.1105C>G (p.His369Asp) c.967C>G (p.His323Asp) c.1162C>G (p.His388Asp) c.1285C>G (p.His429Asp) c.1255+2974C>G (n.1255+2974C>G) c.1132+6038C>G (n.1132+6038C>G) c.1156C>G (p.His386Asp) c.985C>G (p.His329Asp) | |
19 | g.13081709C>T | CA404303698 | NFIX | c.982C>T (p.His328Tyr) c.1075+2974C>T (n.1075+2974C>T) c.773+6038C>T c.1108C>T (p.His370Tyr) c.1132C>T (p.His378Tyr) c.994C>T (p.His332Tyr) c.*477C>T (n.*477C>T) c.1084C>T (p.His362Tyr) c.*939C>T (n.*939C>T) c.1105C>T (p.His369Tyr) c.967C>T (p.His323Tyr) c.1162C>T (p.His388Tyr) c.1285C>T (p.His429Tyr) c.1255+2974C>T (n.1255+2974C>T) c.1132+6038C>T (n.1132+6038C>T) c.1156C>T (p.His386Tyr) c.985C>T (p.His329Tyr) | |
19 | g.13081712_13081722del | CA645604837 | NFIX | c.985_995del (p.Phe329ValfsTer?) c.1075+2977_1075+2987del (n.1075+2977_1075+2987del) c.773+6041_773+6051del c.1111_1121del (p.Phe371ValfsTer?) c.1135_1145del (p.Phe379ValfsTer?) c.997_1007del (p.Phe333ValfsTer?) c.*480_*490del (n.*480_*490del) c.1087_1097del (p.Phe363ValfsTer?) c.*942_*952del (n.*942_*952del) c.1108_1118del (p.Phe370ValfsTer?) c.970_980del (p.Phe324ValfsTer?) c.1165_1175del (p.Phe389ValfsTer?) c.1288_1298del (p.Phe430ValfsTer?) c.1255+2977_1255+2987del (n.1255+2977_1255+2987del) c.1132+6041_1132+6051del (n.1132+6041_1132+6051del) c.1159_1169del (p.Phe387ValfsTer?) c.988_998del (p.Phe330ValfsTer?) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13081710A>C | CA404303701 | NFIX | c.983A>C (p.His328Pro) c.1075+2975A>C (n.1075+2975A>C) c.773+6039A>C c.1109A>C (p.His370Pro) c.1133A>C (p.His378Pro) c.995A>C (p.His332Pro) c.*478A>C (n.*478A>C) c.1085A>C (p.His362Pro) c.*940A>C (n.*940A>C) c.1106A>C (p.His369Pro) c.968A>C (p.His323Pro) c.1163A>C (p.His388Pro) c.1286A>C (p.His429Pro) c.1255+2975A>C (n.1255+2975A>C) c.1132+6039A>C (n.1132+6039A>C) c.1157A>C (p.His386Pro) c.986A>C (p.His329Pro) | |
19 | g.13081710A>G | CA404303702 | NFIX | c.983A>G (p.His328Arg) c.1075+2975A>G (n.1075+2975A>G) c.773+6039A>G c.1109A>G (p.His370Arg) c.1133A>G (p.His378Arg) c.995A>G (p.His332Arg) c.*478A>G (n.*478A>G) c.1085A>G (p.His362Arg) c.*940A>G (n.*940A>G) c.1106A>G (p.His369Arg) c.968A>G (p.His323Arg) c.1163A>G (p.His388Arg) c.1286A>G (p.His429Arg) c.1255+2975A>G (n.1255+2975A>G) c.1132+6039A>G (n.1132+6039A>G) c.1157A>G (p.His386Arg) c.986A>G (p.His329Arg) | |
19 | g.13081710A>T | CA404303705 | NFIX | c.983A>T (p.His328Leu) c.1075+2975A>T (n.1075+2975A>T) c.773+6039A>T c.1109A>T (p.His370Leu) c.1133A>T (p.His378Leu) c.995A>T (p.His332Leu) c.*478A>T (n.*478A>T) c.1085A>T (p.His362Leu) c.*940A>T (n.*940A>T) c.1106A>T (p.His369Leu) c.968A>T (p.His323Leu) c.1163A>T (p.His388Leu) c.1286A>T (p.His429Leu) c.1255+2975A>T (n.1255+2975A>T) c.1132+6039A>T (n.1132+6039A>T) c.1157A>T (p.His386Leu) c.986A>T (p.His329Leu) | |
19 | g.13081711C>A | CA404303708 | NFIX | c.984C>A (p.His328Gln) c.1075+2976C>A (n.1075+2976C>A) c.773+6040C>A c.1110C>A (p.His370Gln) c.1134C>A (p.His378Gln) c.996C>A (p.His332Gln) c.*479C>A (n.*479C>A) c.1086C>A (p.His362Gln) c.*941C>A (n.*941C>A) c.1107C>A (p.His369Gln) c.969C>A (p.His323Gln) c.1164C>A (p.His388Gln) c.1287C>A (p.His429Gln) c.1255+2976C>A (n.1255+2976C>A) c.1132+6040C>A (n.1132+6040C>A) c.1158C>A (p.His386Gln) c.987C>A (p.His329Gln) | |
19 | g.13081711C>G | CA404303711 | NFIX | c.984C>G (p.His328Gln) c.1075+2976C>G (n.1075+2976C>G) c.773+6040C>G c.1110C>G (p.His370Gln) c.1134C>G (p.His378Gln) c.996C>G (p.His332Gln) c.*479C>G (n.*479C>G) c.1086C>G (p.His362Gln) c.*941C>G (n.*941C>G) c.1107C>G (p.His369Gln) c.969C>G (p.His323Gln) c.1164C>G (p.His388Gln) c.1287C>G (p.His429Gln) c.1255+2976C>G (n.1255+2976C>G) c.1132+6040C>G (n.1132+6040C>G) c.1158C>G (p.His386Gln) c.987C>G (p.His329Gln) | gnomAD v4 |
19 | g.13081711C>T | CA505651452 | NFIX | c.984C>T (p.His328=) c.1075+2976C>T (n.1075+2976C>T) c.773+6040C>T c.1110C>T (p.His370=) c.1134C>T (p.His378=) c.996C>T (p.His332=) c.*479C>T (n.*479C>T) c.1086C>T (p.His362=) c.*941C>T (n.*941C>T) c.1107C>T (p.His369=) c.969C>T (p.His323=) c.1164C>T (p.His388=) c.1287C>T (p.His429=) c.1255+2976C>T (n.1255+2976C>T) c.1132+6040C>T (n.1132+6040C>T) c.1158C>T (p.His386=) c.987C>T (p.His329=) | gnomAD v4 |
19 | g.13081712T>A | CA404303715 | NFIX | c.985T>A (p.Phe329Ile) c.1075+2977T>A (n.1075+2977T>A) c.773+6041T>A c.1111T>A (p.Phe371Ile) c.1135T>A (p.Phe379Ile) c.997T>A (p.Phe333Ile) c.*480T>A (n.*480T>A) c.1087T>A (p.Phe363Ile) c.*942T>A (n.*942T>A) c.1108T>A (p.Phe370Ile) c.970T>A (p.Phe324Ile) c.1165T>A (p.Phe389Ile) c.1288T>A (p.Phe430Ile) c.1255+2977T>A (n.1255+2977T>A) c.1132+6041T>A (n.1132+6041T>A) c.1159T>A (p.Phe387Ile) c.988T>A (p.Phe330Ile) | |
19 | g.13081712T>C | CA404303721 | NFIX | c.985T>C (p.Phe329Leu) c.1075+2977T>C (n.1075+2977T>C) c.773+6041T>C c.1111T>C (p.Phe371Leu) c.1135T>C (p.Phe379Leu) c.997T>C (p.Phe333Leu) c.*480T>C (n.*480T>C) c.1087T>C (p.Phe363Leu) c.*942T>C (n.*942T>C) c.1108T>C (p.Phe370Leu) c.970T>C (p.Phe324Leu) c.1165T>C (p.Phe389Leu) c.1288T>C (p.Phe430Leu) c.1255+2977T>C (n.1255+2977T>C) c.1132+6041T>C (n.1132+6041T>C) c.1159T>C (p.Phe387Leu) c.988T>C (p.Phe330Leu) | |
19 | g.13081712T>G | CA404303717 | NFIX | c.985T>G (p.Phe329Val) c.1075+2977T>G (n.1075+2977T>G) c.773+6041T>G c.1111T>G (p.Phe371Val) c.1135T>G (p.Phe379Val) c.997T>G (p.Phe333Val) c.*480T>G (n.*480T>G) c.1087T>G (p.Phe363Val) c.*942T>G (n.*942T>G) c.1108T>G (p.Phe370Val) c.970T>G (p.Phe324Val) c.1165T>G (p.Phe389Val) c.1288T>G (p.Phe430Val) c.1255+2977T>G (n.1255+2977T>G) c.1132+6041T>G (n.1132+6041T>G) c.1159T>G (p.Phe387Val) c.988T>G (p.Phe330Val) | |
19 | g.13081713T>A | CA404303733 | NFIX | c.986T>A (p.Phe329Tyr) c.1075+2978T>A (n.1075+2978T>A) c.773+6042T>A c.1112T>A (p.Phe371Tyr) c.1136T>A (p.Phe379Tyr) c.998T>A (p.Phe333Tyr) c.*481T>A (n.*481T>A) c.1088T>A (p.Phe363Tyr) c.*943T>A (n.*943T>A) c.1109T>A (p.Phe370Tyr) c.971T>A (p.Phe324Tyr) c.1166T>A (p.Phe389Tyr) c.1289T>A (p.Phe430Tyr) c.1255+2978T>A (n.1255+2978T>A) c.1132+6042T>A (n.1132+6042T>A) c.1160T>A (p.Phe387Tyr) c.989T>A (p.Phe330Tyr) | |
19 | g.13081713T>C | CA404303737 | NFIX | c.986T>C (p.Phe329Ser) c.1075+2978T>C (n.1075+2978T>C) c.773+6042T>C c.1112T>C (p.Phe371Ser) c.1136T>C (p.Phe379Ser) c.998T>C (p.Phe333Ser) c.*481T>C (n.*481T>C) c.1088T>C (p.Phe363Ser) c.*943T>C (n.*943T>C) c.1109T>C (p.Phe370Ser) c.971T>C (p.Phe324Ser) c.1166T>C (p.Phe389Ser) c.1289T>C (p.Phe430Ser) c.1255+2978T>C (n.1255+2978T>C) c.1132+6042T>C (n.1132+6042T>C) c.1160T>C (p.Phe387Ser) c.989T>C (p.Phe330Ser) | |
19 | g.13081713T>G | CA404303735 | NFIX | c.986T>G (p.Phe329Cys) c.1075+2978T>G (n.1075+2978T>G) c.773+6042T>G c.1112T>G (p.Phe371Cys) c.1136T>G (p.Phe379Cys) c.998T>G (p.Phe333Cys) c.*481T>G (n.*481T>G) c.1088T>G (p.Phe363Cys) c.*943T>G (n.*943T>G) c.1109T>G (p.Phe370Cys) c.971T>G (p.Phe324Cys) c.1166T>G (p.Phe389Cys) c.1289T>G (p.Phe430Cys) c.1255+2978T>G (n.1255+2978T>G) c.1132+6042T>G (n.1132+6042T>G) c.1160T>G (p.Phe387Cys) c.989T>G (p.Phe330Cys) | |
19 | g.13081713T= | CA2323714194 | NFIX | c.986T= (p.Phe329=) c.1075+2978T= (n.1075+2978T=) c.773+6042T= c.1112T= (p.Phe371=) c.1136T= (p.Phe379=) c.998T= (p.Phe333=) c.*481T= (n.*481T=) c.1088T= (p.Phe363=) c.*943T= (n.*943T=) c.1109T= (p.Phe370=) c.971T= (p.Phe324=) c.1166T= (p.Phe389=) c.1289T= (p.Phe430=) c.1255+2978T= (n.1255+2978T=) c.1132+6042T= (n.1132+6042T=) c.1160T= (p.Phe387=) c.989T= (p.Phe330=) | |
19 | g.13081714C>A | CA404303744 | NFIX | c.987C>A (p.Phe329Leu) c.1075+2979C>A (n.1075+2979C>A) c.773+6043C>A c.1113C>A (p.Phe371Leu) c.1137C>A (p.Phe379Leu) c.999C>A (p.Phe333Leu) c.*482C>A (n.*482C>A) c.1089C>A (p.Phe363Leu) c.*944C>A (n.*944C>A) c.1110C>A (p.Phe370Leu) c.972C>A (p.Phe324Leu) c.1167C>A (p.Phe389Leu) c.1290C>A (p.Phe430Leu) c.1255+2979C>A (n.1255+2979C>A) c.1132+6043C>A (n.1132+6043C>A) c.1161C>A (p.Phe387Leu) c.990C>A (p.Phe330Leu) | |
19 | g.13081714C= | CA2323714195 | NFIX | c.987C= (p.Phe329=) c.1075+2979C= (n.1075+2979C=) c.773+6043C= c.1113C= (p.Phe371=) c.1137C= (p.Phe379=) c.999C= (p.Phe333=) c.*482C= (n.*482C=) c.1089C= (p.Phe363=) c.*944C= (n.*944C=) c.1110C= (p.Phe370=) c.972C= (p.Phe324=) c.1167C= (p.Phe389=) c.1290C= (p.Phe430=) c.1255+2979C= (n.1255+2979C=) c.1132+6043C= (n.1132+6043C=) c.1161C= (p.Phe387=) c.990C= (p.Phe330=) | |
19 | g.13081714C>G | CA404303747 | NFIX | c.987C>G (p.Phe329Leu) c.1075+2979C>G (n.1075+2979C>G) c.773+6043C>G c.1113C>G (p.Phe371Leu) c.1137C>G (p.Phe379Leu) c.999C>G (p.Phe333Leu) c.*482C>G (n.*482C>G) c.1089C>G (p.Phe363Leu) c.*944C>G (n.*944C>G) c.1110C>G (p.Phe370Leu) c.972C>G (p.Phe324Leu) c.1167C>G (p.Phe389Leu) c.1290C>G (p.Phe430Leu) c.1255+2979C>G (n.1255+2979C>G) c.1132+6043C>G (n.1132+6043C>G) c.1161C>G (p.Phe387Leu) c.990C>G (p.Phe330Leu) | |
19 | g.13081714C>T | CA9237141 | NFIX | c.987C>T (p.Phe329=) c.1075+2979C>T (n.1075+2979C>T) c.773+6043C>T c.1113C>T (p.Phe371=) c.1137C>T (p.Phe379=) c.999C>T (p.Phe333=) c.*482C>T (n.*482C>T) c.1089C>T (p.Phe363=) c.*944C>T (n.*944C>T) c.1110C>T (p.Phe370=) c.972C>T (p.Phe324=) c.1167C>T (p.Phe389=) c.1290C>T (p.Phe430=) c.1255+2979C>T (n.1255+2979C>T) c.1132+6043C>T (n.1132+6043C>T) c.1161C>T (p.Phe387=) c.990C>T (p.Phe330=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.13081717dup | CA10603341 | NFIX | c.990dup (p.Ser331LeufsTer?) c.1075+2982dup (n.1075+2982dup) c.773+6046dup c.1116dup (p.Ser373LeufsTer?) c.1140dup (p.Ser381LeufsTer?) c.1002dup (p.Ser335LeufsTer?) c.*485dup (n.*485dup) c.1092dup (p.Ser365LeufsTer?) c.*947dup (n.*947dup) c.1113dup (p.Ser372LeufsTer?) c.975dup (p.Ser326LeufsTer?) c.1170dup (p.Ser391LeufsTer?) c.1293dup (p.Ser432LeufsTer?) c.1255+2982dup (n.1255+2982dup) c.1132+6046dup (n.1132+6046dup) c.1164dup (p.Ser389LeufsTer?) c.993dup (p.Ser332LeufsTer?) | ClinVar dbSNP |
19 | g.13081717del | CA2573320351 | NFIX | c.990del (p.Ser331ProfsTer28) c.1075+2982del (n.1075+2982del) c.773+6046del c.1116del (p.Ser373ProfsTer28) c.1140del (p.Ser381ProfsTer28) c.1002del (p.Ser335ProfsTer28) c.*485del (n.*485del) c.1092del (p.Ser365ProfsTer28) c.*947del (n.*947del) c.1113del (p.Ser372ProfsTer28) c.975del (p.Ser326ProfsTer28) c.1170del (p.Ser391ProfsTer28) c.1293del (p.Ser432ProfsTer28) c.1255+2982del (n.1255+2982del) c.1132+6046del (n.1132+6046del) c.1164del (p.Ser389ProfsTer28) c.993del (p.Ser332ProfsTer28) | |
19 | g.13081715C>A | CA404303754 | NFIX | c.988C>A (p.Pro330Thr) c.1075+2980C>A (n.1075+2980C>A) c.773+6044C>A c.1114C>A (p.Pro372Thr) c.1138C>A (p.Pro380Thr) c.1000C>A (p.Pro334Thr) c.*483C>A (n.*483C>A) c.1090C>A (p.Pro364Thr) c.*945C>A (n.*945C>A) c.1111C>A (p.Pro371Thr) c.973C>A (p.Pro325Thr) c.1168C>A (p.Pro390Thr) c.1291C>A (p.Pro431Thr) c.1255+2980C>A (n.1255+2980C>A) c.1132+6044C>A (n.1132+6044C>A) c.1162C>A (p.Pro388Thr) c.991C>A (p.Pro331Thr) | |
19 | g.13081715C>G | CA404303755 | NFIX | c.988C>G (p.Pro330Ala) c.1075+2980C>G (n.1075+2980C>G) c.773+6044C>G c.1114C>G (p.Pro372Ala) c.1138C>G (p.Pro380Ala) c.1000C>G (p.Pro334Ala) c.*483C>G (n.*483C>G) c.1090C>G (p.Pro364Ala) c.*945C>G (n.*945C>G) c.1111C>G (p.Pro371Ala) c.973C>G (p.Pro325Ala) c.1168C>G (p.Pro390Ala) c.1291C>G (p.Pro431Ala) c.1255+2980C>G (n.1255+2980C>G) c.1132+6044C>G (n.1132+6044C>G) c.1162C>G (p.Pro388Ala) c.991C>G (p.Pro331Ala) | |
19 | g.13081715C>T | CA404303758 | NFIX | c.988C>T (p.Pro330Ser) c.1075+2980C>T (n.1075+2980C>T) c.773+6044C>T c.1114C>T (p.Pro372Ser) c.1138C>T (p.Pro380Ser) c.1000C>T (p.Pro334Ser) c.*483C>T (n.*483C>T) c.1090C>T (p.Pro364Ser) c.*945C>T (n.*945C>T) c.1111C>T (p.Pro371Ser) c.973C>T (p.Pro325Ser) c.1168C>T (p.Pro390Ser) c.1291C>T (p.Pro431Ser) c.1255+2980C>T (n.1255+2980C>T) c.1132+6044C>T (n.1132+6044C>T) c.1162C>T (p.Pro388Ser) c.991C>T (p.Pro331Ser) | |
19 | g.13081716C>A | CA404303762 | NFIX | c.989C>A (p.Pro330His) c.1075+2981C>A (n.1075+2981C>A) c.773+6045C>A c.1115C>A (p.Pro372His) c.1139C>A (p.Pro380His) c.1001C>A (p.Pro334His) c.*484C>A (n.*484C>A) c.1091C>A (p.Pro364His) c.*946C>A (n.*946C>A) c.1112C>A (p.Pro371His) c.974C>A (p.Pro325His) c.1169C>A (p.Pro390His) c.1292C>A (p.Pro431His) c.1255+2981C>A (n.1255+2981C>A) c.1132+6045C>A (n.1132+6045C>A) c.1163C>A (p.Pro388His) c.992C>A (p.Pro331His) | |
19 | g.13081716C>G | CA404303765 | NFIX | c.989C>G (p.Pro330Arg) c.1075+2981C>G (n.1075+2981C>G) c.773+6045C>G c.1115C>G (p.Pro372Arg) c.1139C>G (p.Pro380Arg) c.1001C>G (p.Pro334Arg) c.*484C>G (n.*484C>G) c.1091C>G (p.Pro364Arg) c.*946C>G (n.*946C>G) c.1112C>G (p.Pro371Arg) c.974C>G (p.Pro325Arg) c.1169C>G (p.Pro390Arg) c.1292C>G (p.Pro431Arg) c.1255+2981C>G (n.1255+2981C>G) c.1132+6045C>G (n.1132+6045C>G) c.1163C>G (p.Pro388Arg) c.992C>G (p.Pro331Arg) | |
19 | g.13081716C>T | CA404303766 | NFIX | c.989C>T (p.Pro330Leu) c.1075+2981C>T (n.1075+2981C>T) c.773+6045C>T c.1115C>T (p.Pro372Leu) c.1139C>T (p.Pro380Leu) c.1001C>T (p.Pro334Leu) c.*484C>T (n.*484C>T) c.1091C>T (p.Pro364Leu) c.*946C>T (n.*946C>T) c.1112C>T (p.Pro371Leu) c.974C>T (p.Pro325Leu) c.1169C>T (p.Pro390Leu) c.1292C>T (p.Pro431Leu) c.1255+2981C>T (n.1255+2981C>T) c.1132+6045C>T (n.1132+6045C>T) c.1163C>T (p.Pro388Leu) c.992C>T (p.Pro331Leu) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13081717C>A | CA505651453 | NFIX | c.990C>A (p.Pro330=) c.1075+2982C>A (n.1075+2982C>A) c.773+6046C>A c.1116C>A (p.Pro372=) c.1140C>A (p.Pro380=) c.1002C>A (p.Pro334=) c.*485C>A (n.*485C>A) c.1092C>A (p.Pro364=) c.*947C>A (n.*947C>A) c.1113C>A (p.Pro371=) c.975C>A (p.Pro325=) c.1170C>A (p.Pro390=) c.1293C>A (p.Pro431=) c.1255+2982C>A (n.1255+2982C>A) c.1132+6046C>A (n.1132+6046C>A) c.1164C>A (p.Pro388=) c.993C>A (p.Pro331=) | |
19 | g.13081717C= | CA2323714196 | NFIX | c.990C= (p.Pro330=) c.1075+2982C= (n.1075+2982C=) c.773+6046C= c.1116C= (p.Pro372=) c.1140C= (p.Pro380=) c.1002C= (p.Pro334=) c.*485C= (n.*485C=) c.1092C= (p.Pro364=) c.*947C= (n.*947C=) c.1113C= (p.Pro371=) c.975C= (p.Pro325=) c.1170C= (p.Pro390=) c.1293C= (p.Pro431=) c.1255+2982C= (n.1255+2982C=) c.1132+6046C= (n.1132+6046C=) c.1164C= (p.Pro388=) c.993C= (p.Pro331=) | |
19 | g.13081717C>G | CA505651454 | NFIX | c.990C>G (p.Pro330=) c.1075+2982C>G (n.1075+2982C>G) c.773+6046C>G c.1116C>G (p.Pro372=) c.1140C>G (p.Pro380=) c.1002C>G (p.Pro334=) c.*485C>G (n.*485C>G) c.1092C>G (p.Pro364=) c.*947C>G (n.*947C>G) c.1113C>G (p.Pro371=) c.975C>G (p.Pro325=) c.1170C>G (p.Pro390=) c.1293C>G (p.Pro431=) c.1255+2982C>G (n.1255+2982C>G) c.1132+6046C>G (n.1132+6046C>G) c.1164C>G (p.Pro388=) c.993C>G (p.Pro331=) | |
19 | g.13081717C>T | CA505651455 | NFIX | c.990C>T (p.Pro330=) c.1075+2982C>T (n.1075+2982C>T) c.773+6046C>T c.1116C>T (p.Pro372=) c.1140C>T (p.Pro380=) c.1002C>T (p.Pro334=) c.*485C>T (n.*485C>T) c.1092C>T (p.Pro364=) c.*947C>T (n.*947C>T) c.1113C>T (p.Pro371=) c.975C>T (p.Pro325=) c.1170C>T (p.Pro390=) c.1293C>T (p.Pro431=) c.1255+2982C>T (n.1255+2982C>T) c.1132+6046C>T (n.1132+6046C>T) c.1164C>T (p.Pro388=) c.993C>T (p.Pro331=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.13081718del | CA2695228283 | NFIX | c.991del (p.Ser331ProfsTer28) c.1075+2983del (n.1075+2983del) c.773+6047del c.1117del (p.Ser373ProfsTer28) c.1141del (p.Ser381ProfsTer28) c.1003del (p.Ser335ProfsTer28) c.*486del (n.*486del) c.1093del (p.Ser365ProfsTer28) c.*948del (n.*948del) c.1114del (p.Ser372ProfsTer28) c.976del (p.Ser326ProfsTer28) c.1171del (p.Ser391ProfsTer28) c.1294del (p.Ser432ProfsTer28) c.1255+2983del (n.1255+2983del) c.1132+6047del (n.1132+6047del) c.1165del (p.Ser389ProfsTer28) c.994del (p.Ser332ProfsTer28) | |
19 | g.13081718T>A | CA404303767 | NFIX | c.991T>A (p.Ser331Thr) c.1075+2983T>A (n.1075+2983T>A) c.773+6047T>A c.1117T>A (p.Ser373Thr) c.1141T>A (p.Ser381Thr) c.1003T>A (p.Ser335Thr) c.*486T>A (n.*486T>A) c.1093T>A (p.Ser365Thr) c.*948T>A (n.*948T>A) c.1114T>A (p.Ser372Thr) c.976T>A (p.Ser326Thr) c.1171T>A (p.Ser391Thr) c.1294T>A (p.Ser432Thr) c.1255+2983T>A (n.1255+2983T>A) c.1132+6047T>A (n.1132+6047T>A) c.1165T>A (p.Ser389Thr) c.994T>A (p.Ser332Thr) | |
19 | g.13081718T>C | CA404303769 | NFIX | c.991T>C (p.Ser331Pro) c.1075+2983T>C (n.1075+2983T>C) c.773+6047T>C c.1117T>C (p.Ser373Pro) c.1141T>C (p.Ser381Pro) c.1003T>C (p.Ser335Pro) c.*486T>C (n.*486T>C) c.1093T>C (p.Ser365Pro) c.*948T>C (n.*948T>C) c.1114T>C (p.Ser372Pro) c.976T>C (p.Ser326Pro) c.1171T>C (p.Ser391Pro) c.1294T>C (p.Ser432Pro) c.1255+2983T>C (n.1255+2983T>C) c.1132+6047T>C (n.1132+6047T>C) c.1165T>C (p.Ser389Pro) c.994T>C (p.Ser332Pro) | |
19 | g.13081718T>G | CA404303771 | NFIX | c.991T>G (p.Ser331Ala) c.1075+2983T>G (n.1075+2983T>G) c.773+6047T>G c.1117T>G (p.Ser373Ala) c.1141T>G (p.Ser381Ala) c.1003T>G (p.Ser335Ala) c.*486T>G (n.*486T>G) c.1093T>G (p.Ser365Ala) c.*948T>G (n.*948T>G) c.1114T>G (p.Ser372Ala) c.976T>G (p.Ser326Ala) c.1171T>G (p.Ser391Ala) c.1294T>G (p.Ser432Ala) c.1255+2983T>G (n.1255+2983T>G) c.1132+6047T>G (n.1132+6047T>G) c.1165T>G (p.Ser389Ala) c.994T>G (p.Ser332Ala) | |
19 | g.13081719C>A | CA404303772 | NFIX | c.992C>A (p.Ser331Tyr) c.1075+2984C>A (n.1075+2984C>A) c.773+6048C>A c.1118C>A (p.Ser373Tyr) c.1142C>A (p.Ser381Tyr) c.1004C>A (p.Ser335Tyr) c.*487C>A (n.*487C>A) c.1094C>A (p.Ser365Tyr) c.*949C>A (n.*949C>A) c.1115C>A (p.Ser372Tyr) c.977C>A (p.Ser326Tyr) c.1172C>A (p.Ser391Tyr) c.1295C>A (p.Ser432Tyr) c.1255+2984C>A (n.1255+2984C>A) c.1132+6048C>A (n.1132+6048C>A) c.1166C>A (p.Ser389Tyr) c.995C>A (p.Ser332Tyr) | |
19 | g.13081719C>G | CA404303775 | NFIX | c.992C>G (p.Ser331Cys) c.1075+2984C>G (n.1075+2984C>G) c.773+6048C>G c.1118C>G (p.Ser373Cys) c.1142C>G (p.Ser381Cys) c.1004C>G (p.Ser335Cys) c.*487C>G (n.*487C>G) c.1094C>G (p.Ser365Cys) c.*949C>G (n.*949C>G) c.1115C>G (p.Ser372Cys) c.977C>G (p.Ser326Cys) c.1172C>G (p.Ser391Cys) c.1295C>G (p.Ser432Cys) c.1255+2984C>G (n.1255+2984C>G) c.1132+6048C>G (n.1132+6048C>G) c.1166C>G (p.Ser389Cys) c.995C>G (p.Ser332Cys) | |
19 | g.13081719C>T | CA404303774 | NFIX | c.992C>T (p.Ser331Phe) c.1075+2984C>T (n.1075+2984C>T) c.773+6048C>T c.1118C>T (p.Ser373Phe) c.1142C>T (p.Ser381Phe) c.1004C>T (p.Ser335Phe) c.*487C>T (n.*487C>T) c.1094C>T (p.Ser365Phe) c.*949C>T (n.*949C>T) c.1115C>T (p.Ser372Phe) c.977C>T (p.Ser326Phe) c.1172C>T (p.Ser391Phe) c.1295C>T (p.Ser432Phe) c.1255+2984C>T (n.1255+2984C>T) c.1132+6048C>T (n.1132+6048C>T) c.1166C>T (p.Ser389Phe) c.995C>T (p.Ser332Phe) | COSMIC COSMIC COSMIC |
19 | g.13081720C>A | CA505651458 | NFIX | c.993C>A (p.Ser331=) c.1075+2985C>A (n.1075+2985C>A) c.773+6049C>A c.1119C>A (p.Ser373=) c.1143C>A (p.Ser381=) c.1005C>A (p.Ser335=) c.*488C>A (n.*488C>A) c.1095C>A (p.Ser365=) c.*950C>A (n.*950C>A) c.1116C>A (p.Ser372=) c.978C>A (p.Ser326=) c.1173C>A (p.Ser391=) c.1296C>A (p.Ser432=) c.1255+2985C>A (n.1255+2985C>A) c.1132+6049C>A (n.1132+6049C>A) c.1167C>A (p.Ser389=) c.996C>A (p.Ser332=) | gnomAD v4 |
19 | g.13081720C>G | CA505651457 | NFIX | c.993C>G (p.Ser331=) c.1075+2985C>G (n.1075+2985C>G) c.773+6049C>G c.1119C>G (p.Ser373=) c.1143C>G (p.Ser381=) c.1005C>G (p.Ser335=) c.*488C>G (n.*488C>G) c.1095C>G (p.Ser365=) c.*950C>G (n.*950C>G) c.1116C>G (p.Ser372=) c.978C>G (p.Ser326=) c.1173C>G (p.Ser391=) c.1296C>G (p.Ser432=) c.1255+2985C>G (n.1255+2985C>G) c.1132+6049C>G (n.1132+6049C>G) c.1167C>G (p.Ser389=) c.996C>G (p.Ser332=) | |
19 | g.13081720C>T | CA505651456 | NFIX | c.993C>T (p.Ser331=) c.1075+2985C>T (n.1075+2985C>T) c.773+6049C>T c.1119C>T (p.Ser373=) c.1143C>T (p.Ser381=) c.1005C>T (p.Ser335=) c.*488C>T (n.*488C>T) c.1095C>T (p.Ser365=) c.*950C>T (n.*950C>T) c.1116C>T (p.Ser372=) c.978C>T (p.Ser326=) c.1173C>T (p.Ser391=) c.1296C>T (p.Ser432=) c.1255+2985C>T (n.1255+2985C>T) c.1132+6049C>T (n.1132+6049C>T) c.1167C>T (p.Ser389=) c.996C>T (p.Ser332=) | |
19 | g.13081721del | CA2695228284 | NFIX | c.994del (p.Thr332ArgfsTer27) c.1075+2986del (n.1075+2986del) c.773+6050del c.1120del (p.Thr374ArgfsTer27) c.1144del (p.Thr382ArgfsTer27) c.1006del (p.Thr336ArgfsTer27) c.*489del (n.*489del) c.1096del (p.Thr366ArgfsTer27) c.*951del (n.*951del) c.1117del (p.Thr373ArgfsTer27) c.979del (p.Thr327ArgfsTer27) c.1174del (p.Thr392ArgfsTer27) c.1297del (p.Thr433ArgfsTer27) c.1255+2986del (n.1255+2986del) c.1132+6050del (n.1132+6050del) c.1168del (p.Thr390ArgfsTer27) c.997del (p.Thr333ArgfsTer27) | |
19 | g.13081721A= | CA2323714197 | NFIX | c.994A= (p.Thr332=) c.1075+2986A= (n.1075+2986A=) c.773+6050A= c.1120A= (p.Thr374=) c.1144A= (p.Thr382=) c.1006A= (p.Thr336=) c.*489A= (n.*489A=) c.1096A= (p.Thr366=) c.*951A= (n.*951A=) c.1117A= (p.Thr373=) c.979A= (p.Thr327=) c.1174A= (p.Thr392=) c.1297A= (p.Thr433=) c.1255+2986A= (n.1255+2986A=) c.1132+6050A= (n.1132+6050A=) c.1168A= (p.Thr390=) c.997A= (p.Thr333=) | |
19 | g.13081721A>C | CA404303776 | NFIX | c.994A>C (p.Thr332Pro) c.1075+2986A>C (n.1075+2986A>C) c.773+6050A>C c.1120A>C (p.Thr374Pro) c.1144A>C (p.Thr382Pro) c.1006A>C (p.Thr336Pro) c.*489A>C (n.*489A>C) c.1096A>C (p.Thr366Pro) c.*951A>C (n.*951A>C) c.1117A>C (p.Thr373Pro) c.979A>C (p.Thr327Pro) c.1174A>C (p.Thr392Pro) c.1297A>C (p.Thr433Pro) c.1255+2986A>C (n.1255+2986A>C) c.1132+6050A>C (n.1132+6050A>C) c.1168A>C (p.Thr390Pro) c.997A>C (p.Thr333Pro) | |
19 | g.13081721A>G | CA404303778 | NFIX | c.994A>G (p.Thr332Ala) c.1075+2986A>G (n.1075+2986A>G) c.773+6050A>G c.1120A>G (p.Thr374Ala) c.1144A>G (p.Thr382Ala) c.1006A>G (p.Thr336Ala) c.*489A>G (n.*489A>G) c.1096A>G (p.Thr366Ala) c.*951A>G (n.*951A>G) c.1117A>G (p.Thr373Ala) c.979A>G (p.Thr327Ala) c.1174A>G (p.Thr392Ala) c.1297A>G (p.Thr433Ala) c.1255+2986A>G (n.1255+2986A>G) c.1132+6050A>G (n.1132+6050A>G) c.1168A>G (p.Thr390Ala) c.997A>G (p.Thr333Ala) | dbSNP gnomAD v4 |
19 | g.13081721A>T | CA404303779 | NFIX | c.994A>T (p.Thr332Ser) c.1075+2986A>T (n.1075+2986A>T) c.773+6050A>T c.1120A>T (p.Thr374Ser) c.1144A>T (p.Thr382Ser) c.1006A>T (p.Thr336Ser) c.*489A>T (n.*489A>T) c.1096A>T (p.Thr366Ser) c.*951A>T (n.*951A>T) c.1117A>T (p.Thr373Ser) c.979A>T (p.Thr327Ser) c.1174A>T (p.Thr392Ser) c.1297A>T (p.Thr433Ser) c.1255+2986A>T (n.1255+2986A>T) c.1132+6050A>T (n.1132+6050A>T) c.1168A>T (p.Thr390Ser) c.997A>T (p.Thr333Ser) | |
19 | g.13081722C>A | CA404303789 | NFIX | c.995C>A (p.Thr332Lys) c.1075+2987C>A (n.1075+2987C>A) c.773+6051C>A c.1121C>A (p.Thr374Lys) c.1145C>A (p.Thr382Lys) c.1007C>A (p.Thr336Lys) c.*490C>A (n.*490C>A) c.1097C>A (p.Thr366Lys) c.*952C>A (n.*952C>A) c.1118C>A (p.Thr373Lys) c.980C>A (p.Thr327Lys) c.1175C>A (p.Thr392Lys) c.1298C>A (p.Thr433Lys) c.1255+2987C>A (n.1255+2987C>A) c.1132+6051C>A (n.1132+6051C>A) c.1169C>A (p.Thr390Lys) c.998C>A (p.Thr333Lys) | |
19 | g.13081722C= | CA2323714198 | NFIX | c.995C= (p.Thr332=) c.1075+2987C= (n.1075+2987C=) c.773+6051C= c.1121C= (p.Thr374=) c.1145C= (p.Thr382=) c.1007C= (p.Thr336=) c.*490C= (n.*490C=) c.1097C= (p.Thr366=) c.*952C= (n.*952C=) c.1118C= (p.Thr373=) c.980C= (p.Thr327=) c.1175C= (p.Thr392=) c.1298C= (p.Thr433=) c.1255+2987C= (n.1255+2987C=) c.1132+6051C= (n.1132+6051C=) c.1169C= (p.Thr390=) c.998C= (p.Thr333=) | |
19 | g.13081722C>G | CA404303794 | NFIX | c.995C>G (p.Thr332Arg) c.1075+2987C>G (n.1075+2987C>G) c.773+6051C>G c.1121C>G (p.Thr374Arg) c.1145C>G (p.Thr382Arg) c.1007C>G (p.Thr336Arg) c.*490C>G (n.*490C>G) c.1097C>G (p.Thr366Arg) c.*952C>G (n.*952C>G) c.1118C>G (p.Thr373Arg) c.980C>G (p.Thr327Arg) c.1175C>G (p.Thr392Arg) c.1298C>G (p.Thr433Arg) c.1255+2987C>G (n.1255+2987C>G) c.1132+6051C>G (n.1132+6051C>G) c.1169C>G (p.Thr390Arg) c.998C>G (p.Thr333Arg) | |
19 | g.13081722C>T | CA404303797 | NFIX | c.995C>T (p.Thr332Met) c.1075+2987C>T (n.1075+2987C>T) c.773+6051C>T c.1121C>T (p.Thr374Met) c.1145C>T (p.Thr382Met) c.1007C>T (p.Thr336Met) c.*490C>T (n.*490C>T) c.1097C>T (p.Thr366Met) c.*952C>T (n.*952C>T) c.1118C>T (p.Thr373Met) c.980C>T (p.Thr327Met) c.1175C>T (p.Thr392Met) c.1298C>T (p.Thr433Met) c.1255+2987C>T (n.1255+2987C>T) c.1132+6051C>T (n.1132+6051C>T) c.1169C>T (p.Thr390Met) c.998C>T (p.Thr333Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.13081723G>A | CA505651459 | NFIX | c.996G>A (p.Thr332=) c.1075+2988G>A (n.1075+2988G>A) c.773+6052G>A c.1122G>A (p.Thr374=) c.1146G>A (p.Thr382=) c.1008G>A (p.Thr336=) c.*491G>A (n.*491G>A) c.1098G>A (p.Thr366=) c.*953G>A (n.*953G>A) c.1119G>A (p.Thr373=) c.981G>A (p.Thr327=) c.1176G>A (p.Thr392=) c.1299G>A (p.Thr433=) c.1255+2988G>A (n.1255+2988G>A) c.1132+6052G>A (n.1132+6052G>A) c.1170G>A (p.Thr390=) c.999G>A (p.Thr333=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081723G>C | CA505651460 | NFIX | c.996G>C (p.Thr332=) c.1075+2988G>C (n.1075+2988G>C) c.773+6052G>C c.1122G>C (p.Thr374=) c.1146G>C (p.Thr382=) c.1008G>C (p.Thr336=) c.*491G>C (n.*491G>C) c.1098G>C (p.Thr366=) c.*953G>C (n.*953G>C) c.1119G>C (p.Thr373=) c.981G>C (p.Thr327=) c.1176G>C (p.Thr392=) c.1299G>C (p.Thr433=) c.1255+2988G>C (n.1255+2988G>C) c.1132+6052G>C (n.1132+6052G>C) c.1170G>C (p.Thr390=) c.999G>C (p.Thr333=) | |
19 | g.13081723G= | CA2323714199 | NFIX | c.996G= (p.Thr332=) c.1075+2988G= (n.1075+2988G=) c.773+6052G= c.1122G= (p.Thr374=) c.1146G= (p.Thr382=) c.1008G= (p.Thr336=) c.*491G= (n.*491G=) c.1098G= (p.Thr366=) c.*953G= (n.*953G=) c.1119G= (p.Thr373=) c.981G= (p.Thr327=) c.1176G= (p.Thr392=) c.1299G= (p.Thr433=) c.1255+2988G= (n.1255+2988G=) c.1132+6052G= (n.1132+6052G=) c.1170G= (p.Thr390=) c.999G= (p.Thr333=) | |
19 | g.13081723G>T | CA505651461 | NFIX | c.996G>T (p.Thr332=) c.1075+2988G>T (n.1075+2988G>T) c.773+6052G>T c.1122G>T (p.Thr374=) c.1146G>T (p.Thr382=) c.1008G>T (p.Thr336=) c.*491G>T (n.*491G>T) c.1098G>T (p.Thr366=) c.*953G>T (n.*953G>T) c.1119G>T (p.Thr373=) c.981G>T (p.Thr327=) c.1176G>T (p.Thr392=) c.1299G>T (p.Thr433=) c.1255+2988G>T (n.1255+2988G>T) c.1132+6052G>T (n.1132+6052G>T) c.1170G>T (p.Thr390=) c.999G>T (p.Thr333=) | gnomAD v4 |
19 | g.13081724T>A | CA404303817 | NFIX | c.997T>A (p.Ser333Thr) c.1075+2989T>A (n.1075+2989T>A) c.773+6053T>A c.1123T>A (p.Ser375Thr) c.1147T>A (p.Ser383Thr) c.1009T>A (p.Ser337Thr) c.*492T>A (n.*492T>A) c.1099T>A (p.Ser367Thr) c.*954T>A (n.*954T>A) c.1120T>A (p.Ser374Thr) c.982T>A (p.Ser328Thr) c.1177T>A (p.Ser393Thr) c.1300T>A (p.Ser434Thr) c.1255+2989T>A (n.1255+2989T>A) c.1132+6053T>A (n.1132+6053T>A) c.1171T>A (p.Ser391Thr) c.1000T>A (p.Ser334Thr) | gnomAD v4 |
19 | g.13081724T>C | CA404303821 | NFIX | c.997T>C (p.Ser333Pro) c.1075+2989T>C (n.1075+2989T>C) c.773+6053T>C c.1123T>C (p.Ser375Pro) c.1147T>C (p.Ser383Pro) c.1009T>C (p.Ser337Pro) c.*492T>C (n.*492T>C) c.1099T>C (p.Ser367Pro) c.*954T>C (n.*954T>C) c.1120T>C (p.Ser374Pro) c.982T>C (p.Ser328Pro) c.1177T>C (p.Ser393Pro) c.1300T>C (p.Ser434Pro) c.1255+2989T>C (n.1255+2989T>C) c.1132+6053T>C (n.1132+6053T>C) c.1171T>C (p.Ser391Pro) c.1000T>C (p.Ser334Pro) | |
19 | g.13081724T>G | CA404303837 | NFIX | c.997T>G (p.Ser333Ala) c.1075+2989T>G (n.1075+2989T>G) c.773+6053T>G c.1123T>G (p.Ser375Ala) c.1147T>G (p.Ser383Ala) c.1009T>G (p.Ser337Ala) c.*492T>G (n.*492T>G) c.1099T>G (p.Ser367Ala) c.*954T>G (n.*954T>G) c.1120T>G (p.Ser374Ala) c.982T>G (p.Ser328Ala) c.1177T>G (p.Ser393Ala) c.1300T>G (p.Ser434Ala) c.1255+2989T>G (n.1255+2989T>G) c.1132+6053T>G (n.1132+6053T>G) c.1171T>G (p.Ser391Ala) c.1000T>G (p.Ser334Ala) | |
19 | g.13081725C>A | CA404303848 | NFIX | c.998C>A (p.Ser333Tyr) c.1075+2990C>A (n.1075+2990C>A) c.773+6054C>A c.1124C>A (p.Ser375Tyr) c.1148C>A (p.Ser383Tyr) c.1010C>A (p.Ser337Tyr) c.*493C>A (n.*493C>A) c.1100C>A (p.Ser367Tyr) c.*955C>A (n.*955C>A) c.1121C>A (p.Ser374Tyr) c.983C>A (p.Ser328Tyr) c.1178C>A (p.Ser393Tyr) c.1301C>A (p.Ser434Tyr) c.1255+2990C>A (n.1255+2990C>A) c.1132+6054C>A (n.1132+6054C>A) c.1172C>A (p.Ser391Tyr) c.1001C>A (p.Ser334Tyr) | |
19 | g.13081725C>G | CA404303867 | NFIX | c.998C>G (p.Ser333Cys) c.1075+2990C>G (n.1075+2990C>G) c.773+6054C>G c.1124C>G (p.Ser375Cys) c.1148C>G (p.Ser383Cys) c.1010C>G (p.Ser337Cys) c.*493C>G (n.*493C>G) c.1100C>G (p.Ser367Cys) c.*955C>G (n.*955C>G) c.1121C>G (p.Ser374Cys) c.983C>G (p.Ser328Cys) c.1178C>G (p.Ser393Cys) c.1301C>G (p.Ser434Cys) c.1255+2990C>G (n.1255+2990C>G) c.1132+6054C>G (n.1132+6054C>G) c.1172C>G (p.Ser391Cys) c.1001C>G (p.Ser334Cys) | |
19 | g.13081725C>T | CA404303844 | NFIX | c.998C>T (p.Ser333Phe) c.1075+2990C>T (n.1075+2990C>T) c.773+6054C>T c.1124C>T (p.Ser375Phe) c.1148C>T (p.Ser383Phe) c.1010C>T (p.Ser337Phe) c.*493C>T (n.*493C>T) c.1100C>T (p.Ser367Phe) c.*955C>T (n.*955C>T) c.1121C>T (p.Ser374Phe) c.983C>T (p.Ser328Phe) c.1178C>T (p.Ser393Phe) c.1301C>T (p.Ser434Phe) c.1255+2990C>T (n.1255+2990C>T) c.1132+6054C>T (n.1132+6054C>T) c.1172C>T (p.Ser391Phe) c.1001C>T (p.Ser334Phe) | |
19 | g.13081726C>A | CA505651462 | NFIX | c.999C>A (p.Ser333=) c.1075+2991C>A (n.1075+2991C>A) c.773+6055C>A c.1125C>A (p.Ser375=) c.1149C>A (p.Ser383=) c.1011C>A (p.Ser337=) c.*494C>A (n.*494C>A) c.1101C>A (p.Ser367=) c.*956C>A (n.*956C>A) c.1122C>A (p.Ser374=) c.984C>A (p.Ser328=) c.1179C>A (p.Ser393=) c.1302C>A (p.Ser434=) c.1255+2991C>A (n.1255+2991C>A) c.1132+6055C>A (n.1132+6055C>A) c.1173C>A (p.Ser391=) c.1002C>A (p.Ser334=) | |
19 | g.13081726C>G | CA505651464 | NFIX | c.999C>G (p.Ser333=) c.1075+2991C>G (n.1075+2991C>G) c.773+6055C>G c.1125C>G (p.Ser375=) c.1149C>G (p.Ser383=) c.1011C>G (p.Ser337=) c.*494C>G (n.*494C>G) c.1101C>G (p.Ser367=) c.*956C>G (n.*956C>G) c.1122C>G (p.Ser374=) c.984C>G (p.Ser328=) c.1179C>G (p.Ser393=) c.1302C>G (p.Ser434=) c.1255+2991C>G (n.1255+2991C>G) c.1132+6055C>G (n.1132+6055C>G) c.1173C>G (p.Ser391=) c.1002C>G (p.Ser334=) | |
19 | g.13081726C>T | CA505651463 | NFIX | c.999C>T (p.Ser333=) c.1075+2991C>T (n.1075+2991C>T) c.773+6055C>T c.1125C>T (p.Ser375=) c.1149C>T (p.Ser383=) c.1011C>T (p.Ser337=) c.*494C>T (n.*494C>T) c.1101C>T (p.Ser367=) c.*956C>T (n.*956C>T) c.1122C>T (p.Ser374=) c.984C>T (p.Ser328=) c.1179C>T (p.Ser393=) c.1302C>T (p.Ser434=) c.1255+2991C>T (n.1255+2991C>T) c.1132+6055C>T (n.1132+6055C>T) c.1173C>T (p.Ser391=) c.1002C>T (p.Ser334=) | |
19 | g.13081727A>C | CA404303877 | NFIX | c.1000A>C (p.Ile334Leu) c.1075+2992A>C (n.1075+2992A>C) c.773+6056A>C c.1126A>C (p.Ile376Leu) c.1150A>C (p.Ile384Leu) c.1012A>C (p.Ile338Leu) c.*495A>C (n.*495A>C) c.1102A>C (p.Ile368Leu) c.*957A>C (n.*957A>C) c.1123A>C (p.Ile375Leu) c.985A>C (p.Ile329Leu) c.1180A>C (p.Ile394Leu) c.1303A>C (p.Ile435Leu) c.1255+2992A>C (n.1255+2992A>C) c.1132+6056A>C (n.1132+6056A>C) c.1174A>C (p.Ile392Leu) c.1003A>C (p.Ile335Leu) | |
19 | g.13081727A>G | CA404303878 | NFIX | c.1000A>G (p.Ile334Val) c.1075+2992A>G (n.1075+2992A>G) c.773+6056A>G c.1126A>G (p.Ile376Val) c.1150A>G (p.Ile384Val) c.1012A>G (p.Ile338Val) c.*495A>G (n.*495A>G) c.1102A>G (p.Ile368Val) c.*957A>G (n.*957A>G) c.1123A>G (p.Ile375Val) c.985A>G (p.Ile329Val) c.1180A>G (p.Ile394Val) c.1303A>G (p.Ile435Val) c.1255+2992A>G (n.1255+2992A>G) c.1132+6056A>G (n.1132+6056A>G) c.1174A>G (p.Ile392Val) c.1003A>G (p.Ile335Val) | |
19 | g.13081727A>T | CA404303887 | NFIX | c.1000A>T (p.Ile334Phe) c.1075+2992A>T (n.1075+2992A>T) c.773+6056A>T c.1126A>T (p.Ile376Phe) c.1150A>T (p.Ile384Phe) c.1012A>T (p.Ile338Phe) c.*495A>T (n.*495A>T) c.1102A>T (p.Ile368Phe) c.*957A>T (n.*957A>T) c.1123A>T (p.Ile375Phe) c.985A>T (p.Ile329Phe) c.1180A>T (p.Ile394Phe) c.1303A>T (p.Ile435Phe) c.1255+2992A>T (n.1255+2992A>T) c.1132+6056A>T (n.1132+6056A>T) c.1174A>T (p.Ile392Phe) c.1003A>T (p.Ile335Phe) | |
19 | g.13081728T>A | CA404303892 | NFIX | c.1001T>A (p.Ile334Asn) c.1075+2993T>A (n.1075+2993T>A) c.773+6057T>A c.1127T>A (p.Ile376Asn) c.1151T>A (p.Ile384Asn) c.1013T>A (p.Ile338Asn) c.*496T>A (n.*496T>A) c.1103T>A (p.Ile368Asn) c.*958T>A (n.*958T>A) c.1124T>A (p.Ile375Asn) c.986T>A (p.Ile329Asn) c.1181T>A (p.Ile394Asn) c.1304T>A (p.Ile435Asn) c.1255+2993T>A (n.1255+2993T>A) c.1132+6057T>A (n.1132+6057T>A) c.1175T>A (p.Ile392Asn) c.1004T>A (p.Ile335Asn) | |
19 | g.13081728T>C | CA404303893 | NFIX | c.1001T>C (p.Ile334Thr) c.1075+2993T>C (n.1075+2993T>C) c.773+6057T>C c.1127T>C (p.Ile376Thr) c.1151T>C (p.Ile384Thr) c.1013T>C (p.Ile338Thr) c.*496T>C (n.*496T>C) c.1103T>C (p.Ile368Thr) c.*958T>C (n.*958T>C) c.1124T>C (p.Ile375Thr) c.986T>C (p.Ile329Thr) c.1181T>C (p.Ile394Thr) c.1304T>C (p.Ile435Thr) c.1255+2993T>C (n.1255+2993T>C) c.1132+6057T>C (n.1132+6057T>C) c.1175T>C (p.Ile392Thr) c.1004T>C (p.Ile335Thr) | |
19 | g.13081728T>G | CA404303894 | NFIX | c.1001T>G (p.Ile334Ser) c.1075+2993T>G (n.1075+2993T>G) c.773+6057T>G c.1127T>G (p.Ile376Ser) c.1151T>G (p.Ile384Ser) c.1013T>G (p.Ile338Ser) c.*496T>G (n.*496T>G) c.1103T>G (p.Ile368Ser) c.*958T>G (n.*958T>G) c.1124T>G (p.Ile375Ser) c.986T>G (p.Ile329Ser) c.1181T>G (p.Ile394Ser) c.1304T>G (p.Ile435Ser) c.1255+2993T>G (n.1255+2993T>G) c.1132+6057T>G (n.1132+6057T>G) c.1175T>G (p.Ile392Ser) c.1004T>G (p.Ile335Ser) | |
19 | g.13081729C>A | CA505651465 | NFIX | c.1002C>A (p.Ile334=) c.1075+2994C>A (n.1075+2994C>A) c.773+6058C>A c.1128C>A (p.Ile376=) c.1152C>A (p.Ile384=) c.1014C>A (p.Ile338=) c.*497C>A (n.*497C>A) c.1104C>A (p.Ile368=) c.*959C>A (n.*959C>A) c.1125C>A (p.Ile375=) c.987C>A (p.Ile329=) c.1182C>A (p.Ile394=) c.1305C>A (p.Ile435=) c.1255+2994C>A (n.1255+2994C>A) c.1132+6058C>A (n.1132+6058C>A) c.1176C>A (p.Ile392=) c.1005C>A (p.Ile335=) | |
19 | g.13081729C>G | CA404303897 | NFIX | c.1002C>G (p.Ile334Met) c.1075+2994C>G (n.1075+2994C>G) c.773+6058C>G c.1128C>G (p.Ile376Met) c.1152C>G (p.Ile384Met) c.1014C>G (p.Ile338Met) c.*497C>G (n.*497C>G) c.1104C>G (p.Ile368Met) c.*959C>G (n.*959C>G) c.1125C>G (p.Ile375Met) c.987C>G (p.Ile329Met) c.1182C>G (p.Ile394Met) c.1305C>G (p.Ile435Met) c.1255+2994C>G (n.1255+2994C>G) c.1132+6058C>G (n.1132+6058C>G) c.1176C>G (p.Ile392Met) c.1005C>G (p.Ile335Met) | |
19 | g.13081729C>T | CA505651466 | NFIX | c.1002C>T (p.Ile334=) c.1075+2994C>T (n.1075+2994C>T) c.773+6058C>T c.1128C>T (p.Ile376=) c.1152C>T (p.Ile384=) c.1014C>T (p.Ile338=) c.*497C>T (n.*497C>T) c.1104C>T (p.Ile368=) c.*959C>T (n.*959C>T) c.1125C>T (p.Ile375=) c.987C>T (p.Ile329=) c.1182C>T (p.Ile394=) c.1305C>T (p.Ile435=) c.1255+2994C>T (n.1255+2994C>T) c.1132+6058C>T (n.1132+6058C>T) c.1176C>T (p.Ile392=) c.1005C>T (p.Ile335=) | |
19 | g.13081730A= | CA2323714200 | NFIX | c.1003A= (p.Ile335=) c.1075+2995A= (n.1075+2995A=) c.773+6059A= c.1129A= (p.Ile377=) c.1153A= (p.Ile385=) c.1015A= (p.Ile339=) c.*498A= (n.*498A=) c.1105A= (p.Ile369=) c.*960A= (n.*960A=) c.1126A= (p.Ile376=) c.988A= (p.Ile330=) c.1183A= (p.Ile395=) c.1306A= (p.Ile436=) c.1255+2995A= (n.1255+2995A=) c.1132+6059A= (n.1132+6059A=) c.1177A= (p.Ile393=) c.1006A= (p.Ile336=) | |
19 | g.13081730A>C | CA404303920 | NFIX | c.1003A>C (p.Ile335Leu) c.1075+2995A>C (n.1075+2995A>C) c.773+6059A>C c.1129A>C (p.Ile377Leu) c.1153A>C (p.Ile385Leu) c.1015A>C (p.Ile339Leu) c.*498A>C (n.*498A>C) c.1105A>C (p.Ile369Leu) c.*960A>C (n.*960A>C) c.1126A>C (p.Ile376Leu) c.988A>C (p.Ile330Leu) c.1183A>C (p.Ile395Leu) c.1306A>C (p.Ile436Leu) c.1255+2995A>C (n.1255+2995A>C) c.1132+6059A>C (n.1132+6059A>C) c.1177A>C (p.Ile393Leu) c.1006A>C (p.Ile336Leu) | |
19 | g.13081730A>G | CA404303922 | NFIX | c.1003A>G (p.Ile335Val) c.1075+2995A>G (n.1075+2995A>G) c.773+6059A>G c.1129A>G (p.Ile377Val) c.1153A>G (p.Ile385Val) c.1015A>G (p.Ile339Val) c.*498A>G (n.*498A>G) c.1105A>G (p.Ile369Val) c.*960A>G (n.*960A>G) c.1126A>G (p.Ile376Val) c.988A>G (p.Ile330Val) c.1183A>G (p.Ile395Val) c.1306A>G (p.Ile436Val) c.1255+2995A>G (n.1255+2995A>G) c.1132+6059A>G (n.1132+6059A>G) c.1177A>G (p.Ile393Val) c.1006A>G (p.Ile336Val) | |
19 | g.13081730A>T | CA404303921 | NFIX | c.1003A>T (p.Ile335Phe) c.1075+2995A>T (n.1075+2995A>T) c.773+6059A>T c.1129A>T (p.Ile377Phe) c.1153A>T (p.Ile385Phe) c.1015A>T (p.Ile339Phe) c.*498A>T (n.*498A>T) c.1105A>T (p.Ile369Phe) c.*960A>T (n.*960A>T) c.1126A>T (p.Ile376Phe) c.988A>T (p.Ile330Phe) c.1183A>T (p.Ile395Phe) c.1306A>T (p.Ile436Phe) c.1255+2995A>T (n.1255+2995A>T) c.1132+6059A>T (n.1132+6059A>T) c.1177A>T (p.Ile393Phe) c.1006A>T (p.Ile336Phe) | gnomAD v4 |
19 | g.13081731T>A | CA404303927 | NFIX | c.1004T>A (p.Ile335Asn) c.1075+2996T>A (n.1075+2996T>A) c.773+6060T>A c.1130T>A (p.Ile377Asn) c.1154T>A (p.Ile385Asn) c.1016T>A (p.Ile339Asn) c.*499T>A (n.*499T>A) c.1106T>A (p.Ile369Asn) c.*961T>A (n.*961T>A) c.1127T>A (p.Ile376Asn) c.989T>A (p.Ile330Asn) c.1184T>A (p.Ile395Asn) c.1307T>A (p.Ile436Asn) c.1255+2996T>A (n.1255+2996T>A) c.1132+6060T>A (n.1132+6060T>A) c.1178T>A (p.Ile393Asn) c.1007T>A (p.Ile336Asn) | |
19 | g.13081731T>C | CA404303931 | NFIX | c.1004T>C (p.Ile335Thr) c.1075+2996T>C (n.1075+2996T>C) c.773+6060T>C c.1130T>C (p.Ile377Thr) c.1154T>C (p.Ile385Thr) c.1016T>C (p.Ile339Thr) c.*499T>C (n.*499T>C) c.1106T>C (p.Ile369Thr) c.*961T>C (n.*961T>C) c.1127T>C (p.Ile376Thr) c.989T>C (p.Ile330Thr) c.1184T>C (p.Ile395Thr) c.1307T>C (p.Ile436Thr) c.1255+2996T>C (n.1255+2996T>C) c.1132+6060T>C (n.1132+6060T>C) c.1178T>C (p.Ile393Thr) c.1007T>C (p.Ile336Thr) | |
19 | g.13081731T>G | CA404303937 | NFIX | c.1004T>G (p.Ile335Ser) c.1075+2996T>G (n.1075+2996T>G) c.773+6060T>G c.1130T>G (p.Ile377Ser) c.1154T>G (p.Ile385Ser) c.1016T>G (p.Ile339Ser) c.*499T>G (n.*499T>G) c.1106T>G (p.Ile369Ser) c.*961T>G (n.*961T>G) c.1127T>G (p.Ile376Ser) c.989T>G (p.Ile330Ser) c.1184T>G (p.Ile395Ser) c.1307T>G (p.Ile436Ser) c.1255+2996T>G (n.1255+2996T>G) c.1132+6060T>G (n.1132+6060T>G) c.1178T>G (p.Ile393Ser) c.1007T>G (p.Ile336Ser) | |
19 | g.13081731T= | CA2323714202 | NFIX | c.1004T= (p.Ile335=) c.1075+2996T= (n.1075+2996T=) c.773+6060T= c.1130T= (p.Ile377=) c.1154T= (p.Ile385=) c.1016T= (p.Ile339=) c.*499T= (n.*499T=) c.1106T= (p.Ile369=) c.*961T= (n.*961T=) c.1127T= (p.Ile376=) c.989T= (p.Ile330=) c.1184T= (p.Ile395=) c.1307T= (p.Ile436=) c.1255+2996T= (n.1255+2996T=) c.1132+6060T= (n.1132+6060T=) c.1178T= (p.Ile393=) c.1007T= (p.Ile336=) | |
19 | g.13081731dup | CA2323714201 | NFIX | c.1004dup (p.Gln336ProfsTer?) c.1075+2996dup (n.1075+2996dup) c.773+6060dup c.1130dup (p.Gln378ProfsTer?) c.1154dup (p.Gln386ProfsTer?) c.1016dup (p.Gln340ProfsTer?) c.*499dup (n.*499dup) c.1106dup (p.Gln370ProfsTer?) c.*961dup (n.*961dup) c.1127dup (p.Gln377ProfsTer?) c.989dup (p.Gln331ProfsTer?) c.1184dup (p.Gln396ProfsTer?) c.1307dup (p.Gln437ProfsTer?) c.1255+2996dup (n.1255+2996dup) c.1132+6060dup (n.1132+6060dup) c.1178dup (p.Gln394ProfsTer?) c.1007dup (p.Gln337ProfsTer?) | dbSNP |
19 | g.13081732C>A | CA505651467 | NFIX | c.1005C>A (p.Ile335=) c.1075+2997C>A (n.1075+2997C>A) c.773+6061C>A c.1131C>A (p.Ile377=) c.1155C>A (p.Ile385=) c.1017C>A (p.Ile339=) c.*500C>A (n.*500C>A) c.1107C>A (p.Ile369=) c.*962C>A (n.*962C>A) c.1128C>A (p.Ile376=) c.990C>A (p.Ile330=) c.1185C>A (p.Ile395=) c.1308C>A (p.Ile436=) c.1255+2997C>A (n.1255+2997C>A) c.1132+6061C>A (n.1132+6061C>A) c.1179C>A (p.Ile393=) c.1008C>A (p.Ile336=) | |
19 | g.13081732C= | CA2323714203 | NFIX | c.1005C= (p.Ile335=) c.1075+2997C= (n.1075+2997C=) c.773+6061C= c.1131C= (p.Ile377=) c.1155C= (p.Ile385=) c.1017C= (p.Ile339=) c.*500C= (n.*500C=) c.1107C= (p.Ile369=) c.*962C= (n.*962C=) c.1128C= (p.Ile376=) c.990C= (p.Ile330=) c.1185C= (p.Ile395=) c.1308C= (p.Ile436=) c.1255+2997C= (n.1255+2997C=) c.1132+6061C= (n.1132+6061C=) c.1179C= (p.Ile393=) c.1008C= (p.Ile336=) | |
19 | g.13081732C>G | CA404303943 | NFIX | c.1005C>G (p.Ile335Met) c.1075+2997C>G (n.1075+2997C>G) c.773+6061C>G c.1131C>G (p.Ile377Met) c.1155C>G (p.Ile385Met) c.1017C>G (p.Ile339Met) c.*500C>G (n.*500C>G) c.1107C>G (p.Ile369Met) c.*962C>G (n.*962C>G) c.1128C>G (p.Ile376Met) c.990C>G (p.Ile330Met) c.1185C>G (p.Ile395Met) c.1308C>G (p.Ile436Met) c.1255+2997C>G (n.1255+2997C>G) c.1132+6061C>G (n.1132+6061C>G) c.1179C>G (p.Ile393Met) c.1008C>G (p.Ile336Met) | |
19 | g.13081732C>T | CA505651468 | NFIX | c.1005C>T (p.Ile335=) c.1075+2997C>T (n.1075+2997C>T) c.773+6061C>T c.1131C>T (p.Ile377=) c.1155C>T (p.Ile385=) c.1017C>T (p.Ile339=) c.*500C>T (n.*500C>T) c.1107C>T (p.Ile369=) c.*962C>T (n.*962C>T) c.1128C>T (p.Ile376=) c.990C>T (p.Ile330=) c.1185C>T (p.Ile395=) c.1308C>T (p.Ile436=) c.1255+2997C>T (n.1255+2997C>T) c.1132+6061C>T (n.1132+6061C>T) c.1179C>T (p.Ile393=) c.1008C>T (p.Ile336=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.13081732_13081738dup | CA915952492 | NFIX | c.1005_1011dup (p.Ser338ProfsTer?) c.1075+2997_1075+3003dup (n.1075+2997_1075+3003dup) c.773+6061_773+6067dup c.1131_1137dup (p.Ser380ProfsTer?) c.1155_1161dup (p.Ser388ProfsTer?) c.1017_1023dup (p.Ser342ProfsTer?) c.*500_*506dup (n.*500_*506dup) c.1107_1113dup (p.Ser372ProfsTer?) c.*962_*968dup (n.*962_*968dup) c.1128_1134dup (p.Ser379ProfsTer?) c.990_996dup (p.Ser333ProfsTer?) c.1185_1191dup (p.Ser398ProfsTer?) c.1308_1314dup (p.Ser439ProfsTer?) c.1255+2997_1255+3003dup (n.1255+2997_1255+3003dup) c.1132+6061_1132+6067dup (n.1132+6061_1132+6067dup) c.1179_1185dup (p.Ser396ProfsTer?) c.1008_1014dup (p.Ser339ProfsTer?) | ClinVar dbSNP |
19 | g.13081733C>A | CA404303954 | NFIX | c.1006C>A (p.Gln336Lys) c.1075+2998C>A (n.1075+2998C>A) c.773+6062C>A c.1132C>A (p.Gln378Lys) c.1156C>A (p.Gln386Lys) c.1018C>A (p.Gln340Lys) c.*501C>A (n.*501C>A) c.1108C>A (p.Gln370Lys) c.*963C>A (n.*963C>A) c.1129C>A (p.Gln377Lys) c.991C>A (p.Gln331Lys) c.1186C>A (p.Gln396Lys) c.1309C>A (p.Gln437Lys) c.1255+2998C>A (n.1255+2998C>A) c.1132+6062C>A (n.1132+6062C>A) c.1180C>A (p.Gln394Lys) c.1009C>A (p.Gln337Lys) | |
19 | g.13081733C>G | CA404303963 | NFIX | c.1006C>G (p.Gln336Glu) c.1075+2998C>G (n.1075+2998C>G) c.773+6062C>G c.1132C>G (p.Gln378Glu) c.1156C>G (p.Gln386Glu) c.1018C>G (p.Gln340Glu) c.*501C>G (n.*501C>G) c.1108C>G (p.Gln370Glu) c.*963C>G (n.*963C>G) c.1129C>G (p.Gln377Glu) c.991C>G (p.Gln331Glu) c.1186C>G (p.Gln396Glu) c.1309C>G (p.Gln437Glu) c.1255+2998C>G (n.1255+2998C>G) c.1132+6062C>G (n.1132+6062C>G) c.1180C>G (p.Gln394Glu) c.1009C>G (p.Gln337Glu) | |
19 | g.13081733C>T | CA404303957 | NFIX | c.1006C>T (p.Gln336Ter) c.1075+2998C>T (n.1075+2998C>T) c.773+6062C>T c.1132C>T (p.Gln378Ter) c.1156C>T (p.Gln386Ter) c.1018C>T (p.Gln340Ter) c.*501C>T (n.*501C>T) c.1108C>T (p.Gln370Ter) c.*963C>T (n.*963C>T) c.1129C>T (p.Gln377Ter) c.991C>T (p.Gln331Ter) c.1186C>T (p.Gln396Ter) c.1309C>T (p.Gln437Ter) c.1255+2998C>T (n.1255+2998C>T) c.1132+6062C>T (n.1132+6062C>T) c.1180C>T (p.Gln394Ter) c.1009C>T (p.Gln337Ter) | |
19 | g.13081734A= | CA2323714204 | NFIX | c.1007A= (p.Gln336=) c.1075+2999A= (n.1075+2999A=) c.773+6063A= c.1133A= (p.Gln378=) c.1157A= (p.Gln386=) c.1019A= (p.Gln340=) c.*502A= (n.*502A=) c.1109A= (p.Gln370=) c.*964A= (n.*964A=) c.1130A= (p.Gln377=) c.992A= (p.Gln331=) c.1187A= (p.Gln396=) c.1310A= (p.Gln437=) c.1255+2999A= (n.1255+2999A=) c.1132+6063A= (n.1132+6063A=) c.1181A= (p.Gln394=) c.1010A= (p.Gln337=) | |
19 | g.13081734A>C | CA9237142 | NFIX | c.1007A>C (p.Gln336Pro) c.1075+2999A>C (n.1075+2999A>C) c.773+6063A>C c.1133A>C (p.Gln378Pro) c.1157A>C (p.Gln386Pro) c.1019A>C (p.Gln340Pro) c.*502A>C (n.*502A>C) c.1109A>C (p.Gln370Pro) c.*964A>C (n.*964A>C) c.1130A>C (p.Gln377Pro) c.992A>C (p.Gln331Pro) c.1187A>C (p.Gln396Pro) c.1310A>C (p.Gln437Pro) c.1255+2999A>C (n.1255+2999A>C) c.1132+6063A>C (n.1132+6063A>C) c.1181A>C (p.Gln394Pro) c.1010A>C (p.Gln337Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13081734A>G | CA404303967 | NFIX | c.1007A>G (p.Gln336Arg) c.1075+2999A>G (n.1075+2999A>G) c.773+6063A>G c.1133A>G (p.Gln378Arg) c.1157A>G (p.Gln386Arg) c.1019A>G (p.Gln340Arg) c.*502A>G (n.*502A>G) c.1109A>G (p.Gln370Arg) c.*964A>G (n.*964A>G) c.1130A>G (p.Gln377Arg) c.992A>G (p.Gln331Arg) c.1187A>G (p.Gln396Arg) c.1310A>G (p.Gln437Arg) c.1255+2999A>G (n.1255+2999A>G) c.1132+6063A>G (n.1132+6063A>G) c.1181A>G (p.Gln394Arg) c.1010A>G (p.Gln337Arg) | |
19 | g.13081734A>T | CA404303970 | NFIX | c.1007A>T (p.Gln336Leu) c.1075+2999A>T (n.1075+2999A>T) c.773+6063A>T c.1133A>T (p.Gln378Leu) c.1157A>T (p.Gln386Leu) c.1019A>T (p.Gln340Leu) c.*502A>T (n.*502A>T) c.1109A>T (p.Gln370Leu) c.*964A>T (n.*964A>T) c.1130A>T (p.Gln377Leu) c.992A>T (p.Gln331Leu) c.1187A>T (p.Gln396Leu) c.1310A>T (p.Gln437Leu) c.1255+2999A>T (n.1255+2999A>T) c.1132+6063A>T (n.1132+6063A>T) c.1181A>T (p.Gln394Leu) c.1010A>T (p.Gln337Leu) | |
19 | g.13081735G>A | CA9237143 | NFIX | c.1008G>A (p.Gln336=) c.1075+3000G>A (n.1075+3000G>A) c.773+6064G>A c.1134G>A (p.Gln378=) c.1158G>A (p.Gln386=) c.1020G>A (p.Gln340=) c.*503G>A (n.*503G>A) c.1110G>A (p.Gln370=) c.*965G>A (n.*965G>A) c.1131G>A (p.Gln377=) c.993G>A (p.Gln331=) c.1188G>A (p.Gln396=) c.1311G>A (p.Gln437=) c.1255+3000G>A (n.1255+3000G>A) c.1132+6064G>A (n.1132+6064G>A) c.1182G>A (p.Gln394=) c.1011G>A (p.Gln337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081735G>C | CA404303984 | NFIX | c.1008G>C (p.Gln336His) c.1075+3000G>C (n.1075+3000G>C) c.773+6064G>C c.1134G>C (p.Gln378His) c.1158G>C (p.Gln386His) c.1020G>C (p.Gln340His) c.*503G>C (n.*503G>C) c.1110G>C (p.Gln370His) c.*965G>C (n.*965G>C) c.1131G>C (p.Gln377His) c.993G>C (p.Gln331His) c.1188G>C (p.Gln396His) c.1311G>C (p.Gln437His) c.1255+3000G>C (n.1255+3000G>C) c.1132+6064G>C (n.1132+6064G>C) c.1182G>C (p.Gln394His) c.1011G>C (p.Gln337His) | |
19 | g.13081735G= | CA2323714205 | NFIX | c.1008G= (p.Gln336=) c.1075+3000G= (n.1075+3000G=) c.773+6064G= c.1134G= (p.Gln378=) c.1158G= (p.Gln386=) c.1020G= (p.Gln340=) c.*503G= (n.*503G=) c.1110G= (p.Gln370=) c.*965G= (n.*965G=) c.1131G= (p.Gln377=) c.993G= (p.Gln331=) c.1188G= (p.Gln396=) c.1311G= (p.Gln437=) c.1255+3000G= (n.1255+3000G=) c.1132+6064G= (n.1132+6064G=) c.1182G= (p.Gln394=) c.1011G= (p.Gln337=) | |
19 | g.13081735G>T | CA404303986 | NFIX | c.1008G>T (p.Gln336His) c.1075+3000G>T (n.1075+3000G>T) c.773+6064G>T c.1134G>T (p.Gln378His) c.1158G>T (p.Gln386His) c.1020G>T (p.Gln340His) c.*503G>T (n.*503G>T) c.1110G>T (p.Gln370His) c.*965G>T (n.*965G>T) c.1131G>T (p.Gln377His) c.993G>T (p.Gln331His) c.1188G>T (p.Gln396His) c.1311G>T (p.Gln437His) c.1255+3000G>T (n.1255+3000G>T) c.1132+6064G>T (n.1132+6064G>T) c.1182G>T (p.Gln394His) c.1011G>T (p.Gln337His) | |
19 | g.13081736C>A | CA404303989 | NFIX | c.1009C>A (p.Gln337Lys) c.1075+3001C>A (n.1075+3001C>A) c.773+6065C>A c.1135C>A (p.Gln379Lys) c.1159C>A (p.Gln387Lys) c.1021C>A (p.Gln341Lys) c.*504C>A (n.*504C>A) c.1111C>A (p.Gln371Lys) c.*966C>A (n.*966C>A) c.1132C>A (p.Gln378Lys) c.994C>A (p.Gln332Lys) c.1189C>A (p.Gln397Lys) c.1312C>A (p.Gln438Lys) c.1255+3001C>A (n.1255+3001C>A) c.1132+6065C>A (n.1132+6065C>A) c.1183C>A (p.Gln395Lys) c.1012C>A (p.Gln338Lys) | |
19 | g.13081736C>G | CA404303999 | NFIX | c.1009C>G (p.Gln337Glu) c.1075+3001C>G (n.1075+3001C>G) c.773+6065C>G c.1135C>G (p.Gln379Glu) c.1159C>G (p.Gln387Glu) c.1021C>G (p.Gln341Glu) c.*504C>G (n.*504C>G) c.1111C>G (p.Gln371Glu) c.*966C>G (n.*966C>G) c.1132C>G (p.Gln378Glu) c.994C>G (p.Gln332Glu) c.1189C>G (p.Gln397Glu) c.1312C>G (p.Gln438Glu) c.1255+3001C>G (n.1255+3001C>G) c.1132+6065C>G (n.1132+6065C>G) c.1183C>G (p.Gln395Glu) c.1012C>G (p.Gln338Glu) | |
19 | g.13081736C>T | CA404304001 | NFIX | c.1009C>T (p.Gln337Ter) c.1075+3001C>T (n.1075+3001C>T) c.773+6065C>T c.1135C>T (p.Gln379Ter) c.1159C>T (p.Gln387Ter) c.1021C>T (p.Gln341Ter) c.*504C>T (n.*504C>T) c.1111C>T (p.Gln371Ter) c.*966C>T (n.*966C>T) c.1132C>T (p.Gln378Ter) c.994C>T (p.Gln332Ter) c.1189C>T (p.Gln397Ter) c.1312C>T (p.Gln438Ter) c.1255+3001C>T (n.1255+3001C>T) c.1132+6065C>T (n.1132+6065C>T) c.1183C>T (p.Gln395Ter) c.1012C>T (p.Gln338Ter) | |
19 | g.13081737A>C | CA404304003 | NFIX | c.1010A>C (p.Gln337Pro) c.1075+3002A>C (n.1075+3002A>C) c.773+6066A>C c.1136A>C (p.Gln379Pro) c.1160A>C (p.Gln387Pro) c.1022A>C (p.Gln341Pro) c.*505A>C (n.*505A>C) c.1112A>C (p.Gln371Pro) c.*967A>C (n.*967A>C) c.1133A>C (p.Gln378Pro) c.995A>C (p.Gln332Pro) c.1190A>C (p.Gln397Pro) c.1313A>C (p.Gln438Pro) c.1255+3002A>C (n.1255+3002A>C) c.1132+6066A>C (n.1132+6066A>C) c.1184A>C (p.Gln395Pro) c.1013A>C (p.Gln338Pro) | |
19 | g.13081737A>G | CA404304006 | NFIX | c.1010A>G (p.Gln337Arg) c.1075+3002A>G (n.1075+3002A>G) c.773+6066A>G c.1136A>G (p.Gln379Arg) c.1160A>G (p.Gln387Arg) c.1022A>G (p.Gln341Arg) c.*505A>G (n.*505A>G) c.1112A>G (p.Gln371Arg) c.*967A>G (n.*967A>G) c.1133A>G (p.Gln378Arg) c.995A>G (p.Gln332Arg) c.1190A>G (p.Gln397Arg) c.1313A>G (p.Gln438Arg) c.1255+3002A>G (n.1255+3002A>G) c.1132+6066A>G (n.1132+6066A>G) c.1184A>G (p.Gln395Arg) c.1013A>G (p.Gln338Arg) | |
19 | g.13081737A>T | CA404304009 | NFIX | c.1010A>T (p.Gln337Leu) c.1075+3002A>T (n.1075+3002A>T) c.773+6066A>T c.1136A>T (p.Gln379Leu) c.1160A>T (p.Gln387Leu) c.1022A>T (p.Gln341Leu) c.*505A>T (n.*505A>T) c.1112A>T (p.Gln371Leu) c.*967A>T (n.*967A>T) c.1133A>T (p.Gln378Leu) c.995A>T (p.Gln332Leu) c.1190A>T (p.Gln397Leu) c.1313A>T (p.Gln438Leu) c.1255+3002A>T (n.1255+3002A>T) c.1132+6066A>T (n.1132+6066A>T) c.1184A>T (p.Gln395Leu) c.1013A>T (p.Gln338Leu) | |
19 | g.13081738G>A | CA505651469 | NFIX | c.1011G>A (p.Gln337=) c.1075+3003G>A (n.1075+3003G>A) c.773+6067G>A c.1137G>A (p.Gln379=) c.1161G>A (p.Gln387=) c.1023G>A (p.Gln341=) c.*506G>A (n.*506G>A) c.1113G>A (p.Gln371=) c.*968G>A (n.*968G>A) c.1134G>A (p.Gln378=) c.996G>A (p.Gln332=) c.1191G>A (p.Gln397=) c.1314G>A (p.Gln438=) c.1255+3003G>A (n.1255+3003G>A) c.1132+6067G>A (n.1132+6067G>A) c.1185G>A (p.Gln395=) c.1014G>A (p.Gln338=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13081738G>C | CA404304017 | NFIX | c.1011G>C (p.Gln337His) c.1075+3003G>C (n.1075+3003G>C) c.773+6067G>C c.1137G>C (p.Gln379His) c.1161G>C (p.Gln387His) c.1023G>C (p.Gln341His) c.*506G>C (n.*506G>C) c.1113G>C (p.Gln371His) c.*968G>C (n.*968G>C) c.1134G>C (p.Gln378His) c.996G>C (p.Gln332His) c.1191G>C (p.Gln397His) c.1314G>C (p.Gln438His) c.1255+3003G>C (n.1255+3003G>C) c.1132+6067G>C (n.1132+6067G>C) c.1185G>C (p.Gln395His) c.1014G>C (p.Gln338His) | |
19 | g.13081738G= | CA2323714206 | NFIX | c.1011G= (p.Gln337=) c.1075+3003G= (n.1075+3003G=) c.773+6067G= c.1137G= (p.Gln379=) c.1161G= (p.Gln387=) c.1023G= (p.Gln341=) c.*506G= (n.*506G=) c.1113G= (p.Gln371=) c.*968G= (n.*968G=) c.1134G= (p.Gln378=) c.996G= (p.Gln332=) c.1191G= (p.Gln397=) c.1314G= (p.Gln438=) c.1255+3003G= (n.1255+3003G=) c.1132+6067G= (n.1132+6067G=) c.1185G= (p.Gln395=) c.1014G= (p.Gln338=) | |
19 | g.13081738G>T | CA404304013 | NFIX | c.1011G>T (p.Gln337His) c.1075+3003G>T (n.1075+3003G>T) c.773+6067G>T c.1137G>T (p.Gln379His) c.1161G>T (p.Gln387His) c.1023G>T (p.Gln341His) c.*506G>T (n.*506G>T) c.1113G>T (p.Gln371His) c.*968G>T (n.*968G>T) c.1134G>T (p.Gln378His) c.996G>T (p.Gln332His) c.1191G>T (p.Gln397His) c.1314G>T (p.Gln438His) c.1255+3003G>T (n.1255+3003G>T) c.1132+6067G>T (n.1132+6067G>T) c.1185G>T (p.Gln395His) c.1014G>T (p.Gln338His) | dbSNP |
19 | g.13081739T>A | CA404304019 | NFIX | c.1012T>A (p.Ser338Thr) c.1075+3004T>A (n.1075+3004T>A) c.773+6068T>A c.1138T>A (p.Ser380Thr) c.1162T>A (p.Ser388Thr) c.1024T>A (p.Ser342Thr) c.*507T>A (n.*507T>A) c.1114T>A (p.Ser372Thr) c.*969T>A (n.*969T>A) c.1135T>A (p.Ser379Thr) c.997T>A (p.Ser333Thr) c.1192T>A (p.Ser398Thr) c.1315T>A (p.Ser439Thr) c.1255+3004T>A (n.1255+3004T>A) c.1132+6068T>A (n.1132+6068T>A) c.1186T>A (p.Ser396Thr) c.1015T>A (p.Ser339Thr) | |
19 | g.13081739T>C | CA404304020 | NFIX | c.1012T>C (p.Ser338Pro) c.1075+3004T>C (n.1075+3004T>C) c.773+6068T>C c.1138T>C (p.Ser380Pro) c.1162T>C (p.Ser388Pro) c.1024T>C (p.Ser342Pro) c.*507T>C (n.*507T>C) c.1114T>C (p.Ser372Pro) c.*969T>C (n.*969T>C) c.1135T>C (p.Ser379Pro) c.997T>C (p.Ser333Pro) c.1192T>C (p.Ser398Pro) c.1315T>C (p.Ser439Pro) c.1255+3004T>C (n.1255+3004T>C) c.1132+6068T>C (n.1132+6068T>C) c.1186T>C (p.Ser396Pro) c.1015T>C (p.Ser339Pro) | |
19 | g.13081739T>G | CA404304021 | NFIX | c.1012T>G (p.Ser338Ala) c.1075+3004T>G (n.1075+3004T>G) c.773+6068T>G c.1138T>G (p.Ser380Ala) c.1162T>G (p.Ser388Ala) c.1024T>G (p.Ser342Ala) c.*507T>G (n.*507T>G) c.1114T>G (p.Ser372Ala) c.*969T>G (n.*969T>G) c.1135T>G (p.Ser379Ala) c.997T>G (p.Ser333Ala) c.1192T>G (p.Ser398Ala) c.1315T>G (p.Ser439Ala) c.1255+3004T>G (n.1255+3004T>G) c.1132+6068T>G (n.1132+6068T>G) c.1186T>G (p.Ser396Ala) c.1015T>G (p.Ser339Ala) | |
19 | g.13081740C>A | CA404304024 | NFIX | c.1013C>A (p.Ser338Ter) c.1075+3005C>A (n.1075+3005C>A) c.773+6069C>A c.1139C>A (p.Ser380Ter) c.1163C>A (p.Ser388Ter) c.1025C>A (p.Ser342Ter) c.*508C>A (n.*508C>A) c.1115C>A (p.Ser372Ter) c.*970C>A (n.*970C>A) c.1136C>A (p.Ser379Ter) c.998C>A (p.Ser333Ter) c.1193C>A (p.Ser398Ter) c.1316C>A (p.Ser439Ter) c.1255+3005C>A (n.1255+3005C>A) c.1132+6069C>A (n.1132+6069C>A) c.1187C>A (p.Ser396Ter) c.1016C>A (p.Ser339Ter) | |
19 | g.13081740C= | CA2323714207 | NFIX | c.1013C= (p.Ser338=) c.1075+3005C= (n.1075+3005C=) c.773+6069C= c.1139C= (p.Ser380=) c.1163C= (p.Ser388=) c.1025C= (p.Ser342=) c.*508C= (n.*508C=) c.1115C= (p.Ser372=) c.*970C= (n.*970C=) c.1136C= (p.Ser379=) c.998C= (p.Ser333=) c.1193C= (p.Ser398=) c.1316C= (p.Ser439=) c.1255+3005C= (n.1255+3005C=) c.1132+6069C= (n.1132+6069C=) c.1187C= (p.Ser396=) c.1016C= (p.Ser339=) | |
19 | g.13081740C>G | CA404304027 | NFIX | c.1013C>G (p.Ser338Trp) c.1075+3005C>G (n.1075+3005C>G) c.773+6069C>G c.1139C>G (p.Ser380Trp) c.1163C>G (p.Ser388Trp) c.1025C>G (p.Ser342Trp) c.*508C>G (n.*508C>G) c.1115C>G (p.Ser372Trp) c.*970C>G (n.*970C>G) c.1136C>G (p.Ser379Trp) c.998C>G (p.Ser333Trp) c.1193C>G (p.Ser398Trp) c.1316C>G (p.Ser439Trp) c.1255+3005C>G (n.1255+3005C>G) c.1132+6069C>G (n.1132+6069C>G) c.1187C>G (p.Ser396Trp) c.1016C>G (p.Ser339Trp) | |
19 | g.13081740C>T | CA404304030 | NFIX | c.1013C>T (p.Ser338Leu) c.1075+3005C>T (n.1075+3005C>T) c.773+6069C>T c.1139C>T (p.Ser380Leu) c.1163C>T (p.Ser388Leu) c.1025C>T (p.Ser342Leu) c.*508C>T (n.*508C>T) c.1115C>T (p.Ser372Leu) c.*970C>T (n.*970C>T) c.1136C>T (p.Ser379Leu) c.998C>T (p.Ser333Leu) c.1193C>T (p.Ser398Leu) c.1316C>T (p.Ser439Leu) c.1255+3005C>T (n.1255+3005C>T) c.1132+6069C>T (n.1132+6069C>T) c.1187C>T (p.Ser396Leu) c.1016C>T (p.Ser339Leu) | ClinVar dbSNP gnomAD v4 |
19 | g.13081741G>A | CA203604 | NFIX | c.1014G>A (p.Ser338=) c.1075+3006G>A (n.1075+3006G>A) c.773+6070G>A c.1140G>A (p.Ser380=) c.1164G>A (p.Ser388=) c.1026G>A (p.Ser342=) c.*509G>A (n.*509G>A) c.1116G>A (p.Ser372=) c.*971G>A (n.*971G>A) c.1137G>A (p.Ser379=) c.999G>A (p.Ser333=) c.1194G>A (p.Ser398=) c.1317G>A (p.Ser439=) c.1255+3006G>A (n.1255+3006G>A) c.1132+6070G>A (n.1132+6070G>A) c.1188G>A (p.Ser396=) c.1017G>A (p.Ser339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081741G>C | CA505651470 | NFIX | c.1014G>C (p.Ser338=) c.1075+3006G>C (n.1075+3006G>C) c.773+6070G>C c.1140G>C (p.Ser380=) c.1164G>C (p.Ser388=) c.1026G>C (p.Ser342=) c.*509G>C (n.*509G>C) c.1116G>C (p.Ser372=) c.*971G>C (n.*971G>C) c.1137G>C (p.Ser379=) c.999G>C (p.Ser333=) c.1194G>C (p.Ser398=) c.1317G>C (p.Ser439=) c.1255+3006G>C (n.1255+3006G>C) c.1132+6070G>C (n.1132+6070G>C) c.1188G>C (p.Ser396=) c.1017G>C (p.Ser339=) | dbSNP |
19 | g.13081741G= | CA2323714208 | NFIX | c.1014G= (p.Ser338=) c.1075+3006G= (n.1075+3006G=) c.773+6070G= c.1140G= (p.Ser380=) c.1164G= (p.Ser388=) c.1026G= (p.Ser342=) c.*509G= (n.*509G=) c.1116G= (p.Ser372=) c.*971G= (n.*971G=) c.1137G= (p.Ser379=) c.999G= (p.Ser333=) c.1194G= (p.Ser398=) c.1317G= (p.Ser439=) c.1255+3006G= (n.1255+3006G=) c.1132+6070G= (n.1132+6070G=) c.1188G= (p.Ser396=) c.1017G= (p.Ser339=) | |
19 | g.13081741G>T | CA505651471 | NFIX | c.1014G>T (p.Ser338=) c.1075+3006G>T (n.1075+3006G>T) c.773+6070G>T c.1140G>T (p.Ser380=) c.1164G>T (p.Ser388=) c.1026G>T (p.Ser342=) c.*509G>T (n.*509G>T) c.1116G>T (p.Ser372=) c.*971G>T (n.*971G>T) c.1137G>T (p.Ser379=) c.999G>T (p.Ser333=) c.1194G>T (p.Ser398=) c.1317G>T (p.Ser439=) c.1255+3006G>T (n.1255+3006G>T) c.1132+6070G>T (n.1132+6070G>T) c.1188G>T (p.Ser396=) c.1017G>T (p.Ser339=) | COSMIC COSMIC COSMIC COSMIC |
19 | g.13081742A>C | CA404304050 | NFIX | c.1015A>C (p.Ser339Arg) c.1075+3007A>C (n.1075+3007A>C) c.773+6071A>C c.1141A>C (p.Ser381Arg) c.1165A>C (p.Ser389Arg) c.1027A>C (p.Ser343Arg) c.*510A>C (n.*510A>C) c.1117A>C (p.Ser373Arg) c.*972A>C (n.*972A>C) c.1138A>C (p.Ser380Arg) c.1000A>C (p.Ser334Arg) c.1195A>C (p.Ser399Arg) c.1318A>C (p.Ser440Arg) c.1255+3007A>C (n.1255+3007A>C) c.1132+6071A>C (n.1132+6071A>C) c.1189A>C (p.Ser397Arg) c.1018A>C (p.Ser340Arg) | |
19 | g.13081742A>G | CA404304036 | NFIX | c.1015A>G (p.Ser339Gly) c.1075+3007A>G (n.1075+3007A>G) c.773+6071A>G c.1141A>G (p.Ser381Gly) c.1165A>G (p.Ser389Gly) c.1027A>G (p.Ser343Gly) c.*510A>G (n.*510A>G) c.1117A>G (p.Ser373Gly) c.*972A>G (n.*972A>G) c.1138A>G (p.Ser380Gly) c.1000A>G (p.Ser334Gly) c.1195A>G (p.Ser399Gly) c.1318A>G (p.Ser440Gly) c.1255+3007A>G (n.1255+3007A>G) c.1132+6071A>G (n.1132+6071A>G) c.1189A>G (p.Ser397Gly) c.1018A>G (p.Ser340Gly) | |
19 | g.13081742A>T | CA404304038 | NFIX | c.1015A>T (p.Ser339Cys) c.1075+3007A>T (n.1075+3007A>T) c.773+6071A>T c.1141A>T (p.Ser381Cys) c.1165A>T (p.Ser389Cys) c.1027A>T (p.Ser343Cys) c.*510A>T (n.*510A>T) c.1117A>T (p.Ser373Cys) c.*972A>T (n.*972A>T) c.1138A>T (p.Ser380Cys) c.1000A>T (p.Ser334Cys) c.1195A>T (p.Ser399Cys) c.1318A>T (p.Ser440Cys) c.1255+3007A>T (n.1255+3007A>T) c.1132+6071A>T (n.1132+6071A>T) c.1189A>T (p.Ser397Cys) c.1018A>T (p.Ser340Cys) | |
19 | g.13081743G>A | CA404304055 | NFIX | c.1016G>A (p.Ser339Asn) c.1075+3008G>A (n.1075+3008G>A) c.773+6072G>A c.1142G>A (p.Ser381Asn) c.1166G>A (p.Ser389Asn) c.1028G>A (p.Ser343Asn) c.*511G>A (n.*511G>A) c.1118G>A (p.Ser373Asn) c.*973G>A (n.*973G>A) c.1139G>A (p.Ser380Asn) c.1001G>A (p.Ser334Asn) c.1196G>A (p.Ser399Asn) c.1319G>A (p.Ser440Asn) c.1255+3008G>A (n.1255+3008G>A) c.1132+6072G>A (n.1132+6072G>A) c.1190G>A (p.Ser397Asn) c.1019G>A (p.Ser340Asn) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13081743G>C | CA404304058 | NFIX | c.1016G>C (p.Ser339Thr) c.1075+3008G>C (n.1075+3008G>C) c.773+6072G>C c.1142G>C (p.Ser381Thr) c.1166G>C (p.Ser389Thr) c.1028G>C (p.Ser343Thr) c.*511G>C (n.*511G>C) c.1118G>C (p.Ser373Thr) c.*973G>C (n.*973G>C) c.1139G>C (p.Ser380Thr) c.1001G>C (p.Ser334Thr) c.1196G>C (p.Ser399Thr) c.1319G>C (p.Ser440Thr) c.1255+3008G>C (n.1255+3008G>C) c.1132+6072G>C (n.1132+6072G>C) c.1190G>C (p.Ser397Thr) c.1019G>C (p.Ser340Thr) | |
19 | g.13081743G= | CA2323714209 | NFIX | c.1016G= (p.Ser339=) c.1075+3008G= (n.1075+3008G=) c.773+6072G= c.1142G= (p.Ser381=) c.1166G= (p.Ser389=) c.1028G= (p.Ser343=) c.*511G= (n.*511G=) c.1118G= (p.Ser373=) c.*973G= (n.*973G=) c.1139G= (p.Ser380=) c.1001G= (p.Ser334=) c.1196G= (p.Ser399=) c.1319G= (p.Ser440=) c.1255+3008G= (n.1255+3008G=) c.1132+6072G= (n.1132+6072G=) c.1190G= (p.Ser397=) c.1019G= (p.Ser340=) | |
19 | g.13081743G>T | CA404304060 | NFIX | c.1016G>T (p.Ser339Ile) c.1075+3008G>T (n.1075+3008G>T) c.773+6072G>T c.1142G>T (p.Ser381Ile) c.1166G>T (p.Ser389Ile) c.1028G>T (p.Ser343Ile) c.*511G>T (n.*511G>T) c.1118G>T (p.Ser373Ile) c.*973G>T (n.*973G>T) c.1139G>T (p.Ser380Ile) c.1001G>T (p.Ser334Ile) c.1196G>T (p.Ser399Ile) c.1319G>T (p.Ser440Ile) c.1255+3008G>T (n.1255+3008G>T) c.1132+6072G>T (n.1132+6072G>T) c.1190G>T (p.Ser397Ile) c.1019G>T (p.Ser340Ile) | |
19 | g.13081744C>A | CA404304069 | NFIX | c.1017C>A (p.Ser339Arg) c.1075+3009C>A (n.1075+3009C>A) c.773+6073C>A c.1143C>A (p.Ser381Arg) c.1167C>A (p.Ser389Arg) c.1029C>A (p.Ser343Arg) c.*512C>A (n.*512C>A) c.1119C>A (p.Ser373Arg) c.*974C>A (n.*974C>A) c.1140C>A (p.Ser380Arg) c.1002C>A (p.Ser334Arg) c.1197C>A (p.Ser399Arg) c.1320C>A (p.Ser440Arg) c.1255+3009C>A (n.1255+3009C>A) c.1132+6073C>A (n.1132+6073C>A) c.1191C>A (p.Ser397Arg) c.1020C>A (p.Ser340Arg) | |
19 | g.13081744C= | CA2323714210 | NFIX | c.1017C= (p.Ser339=) c.1075+3009C= (n.1075+3009C=) c.773+6073C= c.1143C= (p.Ser381=) c.1167C= (p.Ser389=) c.1029C= (p.Ser343=) c.*512C= (n.*512C=) c.1119C= (p.Ser373=) c.*974C= (n.*974C=) c.1140C= (p.Ser380=) c.1002C= (p.Ser334=) c.1197C= (p.Ser399=) c.1320C= (p.Ser440=) c.1255+3009C= (n.1255+3009C=) c.1132+6073C= (n.1132+6073C=) c.1191C= (p.Ser397=) c.1020C= (p.Ser340=) | |
19 | g.13081744C>G | CA404304071 | NFIX | c.1017C>G (p.Ser339Arg) c.1075+3009C>G (n.1075+3009C>G) c.773+6073C>G c.1143C>G (p.Ser381Arg) c.1167C>G (p.Ser389Arg) c.1029C>G (p.Ser343Arg) c.*512C>G (n.*512C>G) c.1119C>G (p.Ser373Arg) c.*974C>G (n.*974C>G) c.1140C>G (p.Ser380Arg) c.1002C>G (p.Ser334Arg) c.1197C>G (p.Ser399Arg) c.1320C>G (p.Ser440Arg) c.1255+3009C>G (n.1255+3009C>G) c.1132+6073C>G (n.1132+6073C>G) c.1191C>G (p.Ser397Arg) c.1020C>G (p.Ser340Arg) | |
19 | g.13081744C>T | CA9237144 | NFIX | c.1017C>T (p.Ser339=) c.1075+3009C>T (n.1075+3009C>T) c.773+6073C>T c.1143C>T (p.Ser381=) c.1167C>T (p.Ser389=) c.1029C>T (p.Ser343=) c.*512C>T (n.*512C>T) c.1119C>T (p.Ser373=) c.*974C>T (n.*974C>T) c.1140C>T (p.Ser380=) c.1002C>T (p.Ser334=) c.1197C>T (p.Ser399=) c.1320C>T (p.Ser440=) c.1255+3009C>T (n.1255+3009C>T) c.1132+6073C>T (n.1132+6073C>T) c.1191C>T (p.Ser397=) c.1020C>T (p.Ser340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081746del | CA2582790527 | NFIX | c.1019del (p.Pro340ArgfsTer19) c.1075+3011del (n.1075+3011del) c.773+6075del c.1145del (p.Pro382ArgfsTer19) c.1169del (p.Pro390ArgfsTer19) c.1031del (p.Pro344ArgfsTer19) c.*514del (n.*514del) c.1121del (p.Pro374ArgfsTer19) c.*976del (n.*976del) c.1142del (p.Pro381ArgfsTer19) c.1004del (p.Pro335ArgfsTer19) c.1199del (p.Pro400ArgfsTer19) c.1322del (p.Pro441ArgfsTer19) c.1255+3011del (n.1255+3011del) c.1132+6075del (n.1132+6075del) c.1193del (p.Pro398ArgfsTer19) c.1022del (p.Pro341ArgfsTer19) | gnomAD v4 |
19 | g.13081745C>A | CA404304079 | NFIX | c.1018C>A (p.Pro340Thr) c.1075+3010C>A (n.1075+3010C>A) c.773+6074C>A c.1144C>A (p.Pro382Thr) c.1168C>A (p.Pro390Thr) c.1030C>A (p.Pro344Thr) c.*513C>A (n.*513C>A) c.1120C>A (p.Pro374Thr) c.*975C>A (n.*975C>A) c.1141C>A (p.Pro381Thr) c.1003C>A (p.Pro335Thr) c.1198C>A (p.Pro400Thr) c.1321C>A (p.Pro441Thr) c.1255+3010C>A (n.1255+3010C>A) c.1132+6074C>A (n.1132+6074C>A) c.1192C>A (p.Pro398Thr) c.1021C>A (p.Pro341Thr) | dbSNP |
19 | g.13081745C= | CA2323714211 | NFIX | c.1018C= (p.Pro340=) c.1075+3010C= (n.1075+3010C=) c.773+6074C= c.1144C= (p.Pro382=) c.1168C= (p.Pro390=) c.1030C= (p.Pro344=) c.*513C= (n.*513C=) c.1120C= (p.Pro374=) c.*975C= (n.*975C=) c.1141C= (p.Pro381=) c.1003C= (p.Pro335=) c.1198C= (p.Pro400=) c.1321C= (p.Pro441=) c.1255+3010C= (n.1255+3010C=) c.1132+6074C= (n.1132+6074C=) c.1192C= (p.Pro398=) c.1021C= (p.Pro341=) | |
19 | g.13081745C>G | CA404304084 | NFIX | c.1018C>G (p.Pro340Ala) c.1075+3010C>G (n.1075+3010C>G) c.773+6074C>G c.1144C>G (p.Pro382Ala) c.1168C>G (p.Pro390Ala) c.1030C>G (p.Pro344Ala) c.*513C>G (n.*513C>G) c.1120C>G (p.Pro374Ala) c.*975C>G (n.*975C>G) c.1141C>G (p.Pro381Ala) c.1003C>G (p.Pro335Ala) c.1198C>G (p.Pro400Ala) c.1321C>G (p.Pro441Ala) c.1255+3010C>G (n.1255+3010C>G) c.1132+6074C>G (n.1132+6074C>G) c.1192C>G (p.Pro398Ala) c.1021C>G (p.Pro341Ala) | |
19 | g.13081745C>T | CA404304082 | NFIX | c.1018C>T (p.Pro340Ser) c.1075+3010C>T (n.1075+3010C>T) c.773+6074C>T c.1144C>T (p.Pro382Ser) c.1168C>T (p.Pro390Ser) c.1030C>T (p.Pro344Ser) c.*513C>T (n.*513C>T) c.1120C>T (p.Pro374Ser) c.*975C>T (n.*975C>T) c.1141C>T (p.Pro381Ser) c.1003C>T (p.Pro335Ser) c.1198C>T (p.Pro400Ser) c.1321C>T (p.Pro441Ser) c.1255+3010C>T (n.1255+3010C>T) c.1132+6074C>T (n.1132+6074C>T) c.1192C>T (p.Pro398Ser) c.1021C>T (p.Pro341Ser) | |
19 | g.13081747_13081760del | CA2695228285 | NFIX | c.1020_1033del (p.Tyr341AspfsTer?) c.1075+3012_1075+3025del (n.1075+3012_1075+3025del) c.773+6076_773+6089del c.1146_1159del (p.Tyr383AspfsTer?) c.1170_1183del (p.Tyr391AspfsTer?) c.1032_1045del (p.Tyr345AspfsTer?) c.*515_*528del (n.*515_*528del) c.1122_1135del (p.Tyr375AspfsTer?) c.*977_*990del (n.*977_*990del) c.1143_1156del (p.Tyr382AspfsTer?) c.1005_1018del (p.Tyr336AspfsTer?) c.1200_1213del (p.Tyr401AspfsTer?) c.1323_1336del (p.Tyr442AspfsTer?) c.1255+3012_1255+3025del (n.1255+3012_1255+3025del) c.1132+6076_1132+6089del (n.1132+6076_1132+6089del) c.1194_1207del (p.Tyr399AspfsTer?) c.1023_1036del (p.Tyr342AspfsTer?) | |
19 | g.13081746C>A | CA404304086 | NFIX | c.1019C>A (p.Pro340Gln) c.1075+3011C>A (n.1075+3011C>A) c.773+6075C>A c.1145C>A (p.Pro382Gln) c.1169C>A (p.Pro390Gln) c.1031C>A (p.Pro344Gln) c.*514C>A (n.*514C>A) c.1121C>A (p.Pro374Gln) c.*976C>A (n.*976C>A) c.1142C>A (p.Pro381Gln) c.1004C>A (p.Pro335Gln) c.1199C>A (p.Pro400Gln) c.1322C>A (p.Pro441Gln) c.1255+3011C>A (n.1255+3011C>A) c.1132+6075C>A (n.1132+6075C>A) c.1193C>A (p.Pro398Gln) c.1022C>A (p.Pro341Gln) | gnomAD v4 |
19 | g.13081746C>G | CA404304089 | NFIX | c.1019C>G (p.Pro340Arg) c.1075+3011C>G (n.1075+3011C>G) c.773+6075C>G c.1145C>G (p.Pro382Arg) c.1169C>G (p.Pro390Arg) c.1031C>G (p.Pro344Arg) c.*514C>G (n.*514C>G) c.1121C>G (p.Pro374Arg) c.*976C>G (n.*976C>G) c.1142C>G (p.Pro381Arg) c.1004C>G (p.Pro335Arg) c.1199C>G (p.Pro400Arg) c.1322C>G (p.Pro441Arg) c.1255+3011C>G (n.1255+3011C>G) c.1132+6075C>G (n.1132+6075C>G) c.1193C>G (p.Pro398Arg) c.1022C>G (p.Pro341Arg) | gnomAD v4 |
19 | g.13081746C>T | CA404304091 | NFIX | c.1019C>T (p.Pro340Leu) c.1075+3011C>T (n.1075+3011C>T) c.773+6075C>T c.1145C>T (p.Pro382Leu) c.1169C>T (p.Pro390Leu) c.1031C>T (p.Pro344Leu) c.*514C>T (n.*514C>T) c.1121C>T (p.Pro374Leu) c.*976C>T (n.*976C>T) c.1142C>T (p.Pro381Leu) c.1004C>T (p.Pro335Leu) c.1199C>T (p.Pro400Leu) c.1322C>T (p.Pro441Leu) c.1255+3011C>T (n.1255+3011C>T) c.1132+6075C>T (n.1132+6075C>T) c.1193C>T (p.Pro398Leu) c.1022C>T (p.Pro341Leu) | ClinVar gnomAD v4 |
19 | g.13081748_13081756dup | CA2582790528 | NFIX | c.1021_1029dup (p.Thr343_His344insTyrPheThr) c.1075+3013_1075+3021dup (n.1075+3013_1075+3021dup) c.773+6077_773+6085dup c.1147_1155dup (p.Thr385_His386insTyrPheThr) c.1171_1179dup (p.Thr393_His394insTyrPheThr) c.1033_1041dup (p.Thr347_His348insTyrPheThr) c.*516_*524dup (n.*516_*524dup) c.1123_1131dup (p.Thr377_His378insTyrPheThr) c.*978_*986dup (n.*978_*986dup) c.1144_1152dup (p.Thr384_His385insTyrPheThr) c.1006_1014dup (p.Thr338_His339insTyrPheThr) c.1201_1209dup (p.Thr403_His404insTyrPheThr) c.1324_1332dup (p.Thr444_His445insTyrPheThr) c.1255+3013_1255+3021dup (n.1255+3013_1255+3021dup) c.1132+6077_1132+6085dup (n.1132+6077_1132+6085dup) c.1195_1203dup (p.Thr401_His402insTyrPheThr) c.1024_1032dup (p.Thr344_His345insTyrPheThr) | gnomAD v4 |
19 | g.13081747G>A | CA9237145 | NFIX | c.1020G>A (p.Pro340=) c.1075+3012G>A (n.1075+3012G>A) c.773+6076G>A c.1146G>A (p.Pro382=) c.1170G>A (p.Pro390=) c.1032G>A (p.Pro344=) c.*515G>A (n.*515G>A) c.1122G>A (p.Pro374=) c.*977G>A (n.*977G>A) c.1143G>A (p.Pro381=) c.1005G>A (p.Pro335=) c.1200G>A (p.Pro400=) c.1323G>A (p.Pro441=) c.1255+3012G>A (n.1255+3012G>A) c.1132+6076G>A (n.1132+6076G>A) c.1194G>A (p.Pro398=) c.1023G>A (p.Pro341=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13081747G>C | CA505651474 | NFIX | c.1020G>C (p.Pro340=) c.1075+3012G>C (n.1075+3012G>C) c.773+6076G>C c.1146G>C (p.Pro382=) c.1170G>C (p.Pro390=) c.1032G>C (p.Pro344=) c.*515G>C (n.*515G>C) c.1122G>C (p.Pro374=) c.*977G>C (n.*977G>C) c.1143G>C (p.Pro381=) c.1005G>C (p.Pro335=) c.1200G>C (p.Pro400=) c.1323G>C (p.Pro441=) c.1255+3012G>C (n.1255+3012G>C) c.1132+6076G>C (n.1132+6076G>C) c.1194G>C (p.Pro398=) c.1023G>C (p.Pro341=) | |
19 | g.13081747G= | CA2323714212 | NFIX | c.1020G= (p.Pro340=) c.1075+3012G= (n.1075+3012G=) c.773+6076G= c.1146G= (p.Pro382=) c.1170G= (p.Pro390=) c.1032G= (p.Pro344=) c.*515G= (n.*515G=) c.1122G= (p.Pro374=) c.*977G= (n.*977G=) c.1143G= (p.Pro381=) c.1005G= (p.Pro335=) c.1200G= (p.Pro400=) c.1323G= (p.Pro441=) c.1255+3012G= (n.1255+3012G=) c.1132+6076G= (n.1132+6076G=) c.1194G= (p.Pro398=) c.1023G= (p.Pro341=) | |
19 | g.13081747G>T | CA505651476 | NFIX | c.1020G>T (p.Pro340=) c.1075+3012G>T (n.1075+3012G>T) c.773+6076G>T c.1146G>T (p.Pro382=) c.1170G>T (p.Pro390=) c.1032G>T (p.Pro344=) c.*515G>T (n.*515G>T) c.1122G>T (p.Pro374=) c.*977G>T (n.*977G>T) c.1143G>T (p.Pro381=) c.1005G>T (p.Pro335=) c.1200G>T (p.Pro400=) c.1323G>T (p.Pro441=) c.1255+3012G>T (n.1255+3012G>T) c.1132+6076G>T (n.1132+6076G>T) c.1194G>T (p.Pro398=) c.1023G>T (p.Pro341=) | |
19 | g.13081748T>A | CA404304099 | NFIX | c.1021T>A (p.Tyr341Asn) c.1075+3013T>A (n.1075+3013T>A) c.773+6077T>A c.1147T>A (p.Tyr383Asn) c.1171T>A (p.Tyr391Asn) c.1033T>A (p.Tyr345Asn) c.*516T>A (n.*516T>A) c.1123T>A (p.Tyr375Asn) c.*978T>A (n.*978T>A) c.1144T>A (p.Tyr382Asn) c.1006T>A (p.Tyr336Asn) c.1201T>A (p.Tyr401Asn) c.1324T>A (p.Tyr442Asn) c.1255+3013T>A (n.1255+3013T>A) c.1132+6077T>A (n.1132+6077T>A) c.1195T>A (p.Tyr399Asn) c.1024T>A (p.Tyr342Asn) | |
19 | g.13081748T>C | CA404304100 | NFIX | c.1021T>C (p.Tyr341His) c.1075+3013T>C (n.1075+3013T>C) c.773+6077T>C c.1147T>C (p.Tyr383His) c.1171T>C (p.Tyr391His) c.1033T>C (p.Tyr345His) c.*516T>C (n.*516T>C) c.1123T>C (p.Tyr375His) c.*978T>C (n.*978T>C) c.1144T>C (p.Tyr382His) c.1006T>C (p.Tyr336His) c.1201T>C (p.Tyr401His) c.1324T>C (p.Tyr442His) c.1255+3013T>C (n.1255+3013T>C) c.1132+6077T>C (n.1132+6077T>C) c.1195T>C (p.Tyr399His) c.1024T>C (p.Tyr342His) | |
19 | g.13081748T>G | CA404304103 | NFIX | c.1021T>G (p.Tyr341Asp) c.1075+3013T>G (n.1075+3013T>G) c.773+6077T>G c.1147T>G (p.Tyr383Asp) c.1171T>G (p.Tyr391Asp) c.1033T>G (p.Tyr345Asp) c.*516T>G (n.*516T>G) c.1123T>G (p.Tyr375Asp) c.*978T>G (n.*978T>G) c.1144T>G (p.Tyr382Asp) c.1006T>G (p.Tyr336Asp) c.1201T>G (p.Tyr401Asp) c.1324T>G (p.Tyr442Asp) c.1255+3013T>G (n.1255+3013T>G) c.1132+6077T>G (n.1132+6077T>G) c.1195T>G (p.Tyr399Asp) c.1024T>G (p.Tyr342Asp) | |
19 | g.13081748dup | CA2695228286 | NFIX | c.1021dup (p.Tyr341LeufsTer?) c.1075+3013dup (n.1075+3013dup) c.773+6077dup c.1147dup (p.Tyr383LeufsTer?) c.1171dup (p.Tyr391LeufsTer?) c.1033dup (p.Tyr345LeufsTer?) c.*516dup (n.*516dup) c.1123dup (p.Tyr375LeufsTer?) c.*978dup (n.*978dup) c.1144dup (p.Tyr382LeufsTer?) c.1006dup (p.Tyr336LeufsTer?) c.1201dup (p.Tyr401LeufsTer?) c.1324dup (p.Tyr442LeufsTer?) c.1255+3013dup (n.1255+3013dup) c.1132+6077dup (n.1132+6077dup) c.1195dup (p.Tyr399LeufsTer?) c.1024dup (p.Tyr342LeufsTer?) | |
19 | g.13081749A>C | CA404304104 | NFIX | c.1022A>C (p.Tyr341Ser) c.1075+3014A>C (n.1075+3014A>C) c.773+6078A>C c.1148A>C (p.Tyr383Ser) c.1172A>C (p.Tyr391Ser) c.1034A>C (p.Tyr345Ser) c.*517A>C (n.*517A>C) c.1124A>C (p.Tyr375Ser) c.*979A>C (n.*979A>C) c.1145A>C (p.Tyr382Ser) c.1007A>C (p.Tyr336Ser) c.1202A>C (p.Tyr401Ser) c.1325A>C (p.Tyr442Ser) c.1255+3014A>C (n.1255+3014A>C) c.1132+6078A>C (n.1132+6078A>C) c.1196A>C (p.Tyr399Ser) c.1025A>C (p.Tyr342Ser) | |
19 | g.13081749A>G | CA404304105 | NFIX | c.1022A>G (p.Tyr341Cys) c.1075+3014A>G (n.1075+3014A>G) c.773+6078A>G c.1148A>G (p.Tyr383Cys) c.1172A>G (p.Tyr391Cys) c.1034A>G (p.Tyr345Cys) c.*517A>G (n.*517A>G) c.1124A>G (p.Tyr375Cys) c.*979A>G (n.*979A>G) c.1145A>G (p.Tyr382Cys) c.1007A>G (p.Tyr336Cys) c.1202A>G (p.Tyr401Cys) c.1325A>G (p.Tyr442Cys) c.1255+3014A>G (n.1255+3014A>G) c.1132+6078A>G (n.1132+6078A>G) c.1196A>G (p.Tyr399Cys) c.1025A>G (p.Tyr342Cys) | |
19 | g.13081749A>T | CA404304109 | NFIX | c.1022A>T (p.Tyr341Phe) c.1075+3014A>T (n.1075+3014A>T) c.773+6078A>T c.1148A>T (p.Tyr383Phe) c.1172A>T (p.Tyr391Phe) c.1034A>T (p.Tyr345Phe) c.*517A>T (n.*517A>T) c.1124A>T (p.Tyr375Phe) c.*979A>T (n.*979A>T) c.1145A>T (p.Tyr382Phe) c.1007A>T (p.Tyr336Phe) c.1202A>T (p.Tyr401Phe) c.1325A>T (p.Tyr442Phe) c.1255+3014A>T (n.1255+3014A>T) c.1132+6078A>T (n.1132+6078A>T) c.1196A>T (p.Tyr399Phe) c.1025A>T (p.Tyr342Phe) | |
19 | g.13081750T>A | CA404304112 | NFIX | c.1023T>A (p.Tyr341Ter) c.1075+3015T>A (n.1075+3015T>A) c.773+6079T>A c.1149T>A (p.Tyr383Ter) c.1173T>A (p.Tyr391Ter) c.1035T>A (p.Tyr345Ter) c.*518T>A (n.*518T>A) c.1125T>A (p.Tyr375Ter) c.*980T>A (n.*980T>A) c.1146T>A (p.Tyr382Ter) c.1008T>A (p.Tyr336Ter) c.1203T>A (p.Tyr401Ter) c.1326T>A (p.Tyr442Ter) c.1255+3015T>A (n.1255+3015T>A) c.1132+6079T>A (n.1132+6079T>A) c.1197T>A (p.Tyr399Ter) c.1026T>A (p.Tyr342Ter) | |
19 | g.13081750T>C | CA505651477 | NFIX | c.1023T>C (p.Tyr341=) c.1075+3015T>C (n.1075+3015T>C) c.773+6079T>C c.1149T>C (p.Tyr383=) c.1173T>C (p.Tyr391=) c.1035T>C (p.Tyr345=) c.*518T>C (n.*518T>C) c.1125T>C (p.Tyr375=) c.*980T>C (n.*980T>C) c.1146T>C (p.Tyr382=) c.1008T>C (p.Tyr336=) c.1203T>C (p.Tyr401=) c.1326T>C (p.Tyr442=) c.1255+3015T>C (n.1255+3015T>C) c.1132+6079T>C (n.1132+6079T>C) c.1197T>C (p.Tyr399=) c.1026T>C (p.Tyr342=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081750T>G | CA404304115 | NFIX | c.1023T>G (p.Tyr341Ter) c.1075+3015T>G (n.1075+3015T>G) c.773+6079T>G c.1149T>G (p.Tyr383Ter) c.1173T>G (p.Tyr391Ter) c.1035T>G (p.Tyr345Ter) c.*518T>G (n.*518T>G) c.1125T>G (p.Tyr375Ter) c.*980T>G (n.*980T>G) c.1146T>G (p.Tyr382Ter) c.1008T>G (p.Tyr336Ter) c.1203T>G (p.Tyr401Ter) c.1326T>G (p.Tyr442Ter) c.1255+3015T>G (n.1255+3015T>G) c.1132+6079T>G (n.1132+6079T>G) c.1197T>G (p.Tyr399Ter) c.1026T>G (p.Tyr342Ter) | |
19 | g.13081750T= | CA2323714213 | NFIX | c.1023T= (p.Tyr341=) c.1075+3015T= (n.1075+3015T=) c.773+6079T= c.1149T= (p.Tyr383=) c.1173T= (p.Tyr391=) c.1035T= (p.Tyr345=) c.*518T= (n.*518T=) c.1125T= (p.Tyr375=) c.*980T= (n.*980T=) c.1146T= (p.Tyr382=) c.1008T= (p.Tyr336=) c.1203T= (p.Tyr401=) c.1326T= (p.Tyr442=) c.1255+3015T= (n.1255+3015T=) c.1132+6079T= (n.1132+6079T=) c.1197T= (p.Tyr399=) c.1026T= (p.Tyr342=) | |
19 | g.13081751T>A | CA404304119 | NFIX | c.1024T>A (p.Phe342Ile) c.1075+3016T>A (n.1075+3016T>A) c.773+6080T>A c.1150T>A (p.Phe384Ile) c.1174T>A (p.Phe392Ile) c.1036T>A (p.Phe346Ile) c.*519T>A (n.*519T>A) c.1126T>A (p.Phe376Ile) c.*981T>A (n.*981T>A) c.1147T>A (p.Phe383Ile) c.1009T>A (p.Phe337Ile) c.1204T>A (p.Phe402Ile) c.1327T>A (p.Phe443Ile) c.1255+3016T>A (n.1255+3016T>A) c.1132+6080T>A (n.1132+6080T>A) c.1198T>A (p.Phe400Ile) c.1027T>A (p.Phe343Ile) | |
19 | g.13081751T>C | CA404304122 | NFIX | c.1024T>C (p.Phe342Leu) c.1075+3016T>C (n.1075+3016T>C) c.773+6080T>C c.1150T>C (p.Phe384Leu) c.1174T>C (p.Phe392Leu) c.1036T>C (p.Phe346Leu) c.*519T>C (n.*519T>C) c.1126T>C (p.Phe376Leu) c.*981T>C (n.*981T>C) c.1147T>C (p.Phe383Leu) c.1009T>C (p.Phe337Leu) c.1204T>C (p.Phe402Leu) c.1327T>C (p.Phe443Leu) c.1255+3016T>C (n.1255+3016T>C) c.1132+6080T>C (n.1132+6080T>C) c.1198T>C (p.Phe400Leu) c.1027T>C (p.Phe343Leu) | |
19 | g.13081751T>G | CA404304120 | NFIX | c.1024T>G (p.Phe342Val) c.1075+3016T>G (n.1075+3016T>G) c.773+6080T>G c.1150T>G (p.Phe384Val) c.1174T>G (p.Phe392Val) c.1036T>G (p.Phe346Val) c.*519T>G (n.*519T>G) c.1126T>G (p.Phe376Val) c.*981T>G (n.*981T>G) c.1147T>G (p.Phe383Val) c.1009T>G (p.Phe337Val) c.1204T>G (p.Phe402Val) c.1327T>G (p.Phe443Val) c.1255+3016T>G (n.1255+3016T>G) c.1132+6080T>G (n.1132+6080T>G) c.1198T>G (p.Phe400Val) c.1027T>G (p.Phe343Val) | |
19 | g.13081752T>A | CA404304126 | NFIX | c.1025T>A (p.Phe342Tyr) c.1075+3017T>A (n.1075+3017T>A) c.773+6081T>A c.1151T>A (p.Phe384Tyr) c.1175T>A (p.Phe392Tyr) c.1037T>A (p.Phe346Tyr) c.*520T>A (n.*520T>A) c.1127T>A (p.Phe376Tyr) c.*982T>A (n.*982T>A) c.1148T>A (p.Phe383Tyr) c.1010T>A (p.Phe337Tyr) c.1205T>A (p.Phe402Tyr) c.1328T>A (p.Phe443Tyr) c.1255+3017T>A (n.1255+3017T>A) c.1132+6081T>A (n.1132+6081T>A) c.1199T>A (p.Phe400Tyr) c.1028T>A (p.Phe343Tyr) | |
19 | g.13081752T>C | CA404304129 | NFIX | c.1025T>C (p.Phe342Ser) c.1075+3017T>C (n.1075+3017T>C) c.773+6081T>C c.1151T>C (p.Phe384Ser) c.1175T>C (p.Phe392Ser) c.1037T>C (p.Phe346Ser) c.*520T>C (n.*520T>C) c.1127T>C (p.Phe376Ser) c.*982T>C (n.*982T>C) c.1148T>C (p.Phe383Ser) c.1010T>C (p.Phe337Ser) c.1205T>C (p.Phe402Ser) c.1328T>C (p.Phe443Ser) c.1255+3017T>C (n.1255+3017T>C) c.1132+6081T>C (n.1132+6081T>C) c.1199T>C (p.Phe400Ser) c.1028T>C (p.Phe343Ser) | |
19 | g.13081752T>G | CA404304133 | NFIX | c.1025T>G (p.Phe342Cys) c.1075+3017T>G (n.1075+3017T>G) c.773+6081T>G c.1151T>G (p.Phe384Cys) c.1175T>G (p.Phe392Cys) c.1037T>G (p.Phe346Cys) c.*520T>G (n.*520T>G) c.1127T>G (p.Phe376Cys) c.*982T>G (n.*982T>G) c.1148T>G (p.Phe383Cys) c.1010T>G (p.Phe337Cys) c.1205T>G (p.Phe402Cys) c.1328T>G (p.Phe443Cys) c.1255+3017T>G (n.1255+3017T>G) c.1132+6081T>G (n.1132+6081T>G) c.1199T>G (p.Phe400Cys) c.1028T>G (p.Phe343Cys) | |
19 | g.13081753C>A | CA404304138 | NFIX | c.1026C>A (p.Phe342Leu) c.1075+3018C>A (n.1075+3018C>A) c.773+6082C>A c.1152C>A (p.Phe384Leu) c.1176C>A (p.Phe392Leu) c.1038C>A (p.Phe346Leu) c.*521C>A (n.*521C>A) c.1128C>A (p.Phe376Leu) c.*983C>A (n.*983C>A) c.1149C>A (p.Phe383Leu) c.1011C>A (p.Phe337Leu) c.1206C>A (p.Phe402Leu) c.1329C>A (p.Phe443Leu) c.1255+3018C>A (n.1255+3018C>A) c.1132+6082C>A (n.1132+6082C>A) c.1200C>A (p.Phe400Leu) c.1029C>A (p.Phe343Leu) | |
19 | g.13081753C>G | CA404304141 | NFIX | c.1026C>G (p.Phe342Leu) c.1075+3018C>G (n.1075+3018C>G) c.773+6082C>G c.1152C>G (p.Phe384Leu) c.1176C>G (p.Phe392Leu) c.1038C>G (p.Phe346Leu) c.*521C>G (n.*521C>G) c.1128C>G (p.Phe376Leu) c.*983C>G (n.*983C>G) c.1149C>G (p.Phe383Leu) c.1011C>G (p.Phe337Leu) c.1206C>G (p.Phe402Leu) c.1329C>G (p.Phe443Leu) c.1255+3018C>G (n.1255+3018C>G) c.1132+6082C>G (n.1132+6082C>G) c.1200C>G (p.Phe400Leu) c.1029C>G (p.Phe343Leu) | |
19 | g.13081753C>T | CA505651481 | NFIX | c.1026C>T (p.Phe342=) c.1075+3018C>T (n.1075+3018C>T) c.773+6082C>T c.1152C>T (p.Phe384=) c.1176C>T (p.Phe392=) c.1038C>T (p.Phe346=) c.*521C>T (n.*521C>T) c.1128C>T (p.Phe376=) c.*983C>T (n.*983C>T) c.1149C>T (p.Phe383=) c.1011C>T (p.Phe337=) c.1206C>T (p.Phe402=) c.1329C>T (p.Phe443=) c.1255+3018C>T (n.1255+3018C>T) c.1132+6082C>T (n.1132+6082C>T) c.1200C>T (p.Phe400=) c.1029C>T (p.Phe343=) | COSMIC COSMIC COSMIC |
19 | g.13081754A= | CA2323714214 | NFIX | c.1027A= (p.Thr343=) c.1075+3019A= (n.1075+3019A=) c.773+6083A= c.1153A= (p.Thr385=) c.1177A= (p.Thr393=) c.1039A= (p.Thr347=) c.*522A= (n.*522A=) c.1129A= (p.Thr377=) c.*984A= (n.*984A=) c.1150A= (p.Thr384=) c.1012A= (p.Thr338=) c.1207A= (p.Thr403=) c.1330A= (p.Thr444=) c.1255+3019A= (n.1255+3019A=) c.1132+6083A= (n.1132+6083A=) c.1201A= (p.Thr401=) c.1030A= (p.Thr344=) | |
19 | g.13081754A>C | CA404304144 | NFIX | c.1027A>C (p.Thr343Pro) c.1075+3019A>C (n.1075+3019A>C) c.773+6083A>C c.1153A>C (p.Thr385Pro) c.1177A>C (p.Thr393Pro) c.1039A>C (p.Thr347Pro) c.*522A>C (n.*522A>C) c.1129A>C (p.Thr377Pro) c.*984A>C (n.*984A>C) c.1150A>C (p.Thr384Pro) c.1012A>C (p.Thr338Pro) c.1207A>C (p.Thr403Pro) c.1330A>C (p.Thr444Pro) c.1255+3019A>C (n.1255+3019A>C) c.1132+6083A>C (n.1132+6083A>C) c.1201A>C (p.Thr401Pro) c.1030A>C (p.Thr344Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13081754A>G | CA404304146 | NFIX | c.1027A>G (p.Thr343Ala) c.1075+3019A>G (n.1075+3019A>G) c.773+6083A>G c.1153A>G (p.Thr385Ala) c.1177A>G (p.Thr393Ala) c.1039A>G (p.Thr347Ala) c.*522A>G (n.*522A>G) c.1129A>G (p.Thr377Ala) c.*984A>G (n.*984A>G) c.1150A>G (p.Thr384Ala) c.1012A>G (p.Thr338Ala) c.1207A>G (p.Thr403Ala) c.1330A>G (p.Thr444Ala) c.1255+3019A>G (n.1255+3019A>G) c.1132+6083A>G (n.1132+6083A>G) c.1201A>G (p.Thr401Ala) c.1030A>G (p.Thr344Ala) | |
19 | g.13081754A>T | CA404304149 | NFIX | c.1027A>T (p.Thr343Ser) c.1075+3019A>T (n.1075+3019A>T) c.773+6083A>T c.1153A>T (p.Thr385Ser) c.1177A>T (p.Thr393Ser) c.1039A>T (p.Thr347Ser) c.*522A>T (n.*522A>T) c.1129A>T (p.Thr377Ser) c.*984A>T (n.*984A>T) c.1150A>T (p.Thr384Ser) c.1012A>T (p.Thr338Ser) c.1207A>T (p.Thr403Ser) c.1330A>T (p.Thr444Ser) c.1255+3019A>T (n.1255+3019A>T) c.1132+6083A>T (n.1132+6083A>T) c.1201A>T (p.Thr401Ser) c.1030A>T (p.Thr344Ser) | |
19 | g.13081755C>A | CA404304155 | NFIX | c.1028C>A (p.Thr343Lys) c.1075+3020C>A (n.1075+3020C>A) c.773+6084C>A c.1154C>A (p.Thr385Lys) c.1178C>A (p.Thr393Lys) c.1040C>A (p.Thr347Lys) c.*523C>A (n.*523C>A) c.1130C>A (p.Thr377Lys) c.*985C>A (n.*985C>A) c.1151C>A (p.Thr384Lys) c.1013C>A (p.Thr338Lys) c.1208C>A (p.Thr403Lys) c.1331C>A (p.Thr444Lys) c.1255+3020C>A (n.1255+3020C>A) c.1132+6084C>A (n.1132+6084C>A) c.1202C>A (p.Thr401Lys) c.1031C>A (p.Thr344Lys) | |
19 | g.13081755C= | CA2323714215 | NFIX | c.1028C= (p.Thr343=) c.1075+3020C= (n.1075+3020C=) c.773+6084C= c.1154C= (p.Thr385=) c.1178C= (p.Thr393=) c.1040C= (p.Thr347=) c.*523C= (n.*523C=) c.1130C= (p.Thr377=) c.*985C= (n.*985C=) c.1151C= (p.Thr384=) c.1013C= (p.Thr338=) c.1208C= (p.Thr403=) c.1331C= (p.Thr444=) c.1255+3020C= (n.1255+3020C=) c.1132+6084C= (n.1132+6084C=) c.1202C= (p.Thr401=) c.1031C= (p.Thr344=) | |
19 | g.13081755C>G | CA404304158 | NFIX | c.1028C>G (p.Thr343Arg) c.1075+3020C>G (n.1075+3020C>G) c.773+6084C>G c.1154C>G (p.Thr385Arg) c.1178C>G (p.Thr393Arg) c.1040C>G (p.Thr347Arg) c.*523C>G (n.*523C>G) c.1130C>G (p.Thr377Arg) c.*985C>G (n.*985C>G) c.1151C>G (p.Thr384Arg) c.1013C>G (p.Thr338Arg) c.1208C>G (p.Thr403Arg) c.1331C>G (p.Thr444Arg) c.1255+3020C>G (n.1255+3020C>G) c.1132+6084C>G (n.1132+6084C>G) c.1202C>G (p.Thr401Arg) c.1031C>G (p.Thr344Arg) | |
19 | g.13081755C>T | CA404304162 | NFIX | c.1028C>T (p.Thr343Met) c.1075+3020C>T (n.1075+3020C>T) c.773+6084C>T c.1154C>T (p.Thr385Met) c.1178C>T (p.Thr393Met) c.1040C>T (p.Thr347Met) c.*523C>T (n.*523C>T) c.1130C>T (p.Thr377Met) c.*985C>T (n.*985C>T) c.1151C>T (p.Thr384Met) c.1013C>T (p.Thr338Met) c.1208C>T (p.Thr403Met) c.1331C>T (p.Thr444Met) c.1255+3020C>T (n.1255+3020C>T) c.1132+6084C>T (n.1132+6084C>T) c.1202C>T (p.Thr401Met) c.1031C>T (p.Thr344Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.13081756G>A | CA505651482 | NFIX | c.1029G>A (p.Thr343=) c.1075+3021G>A (n.1075+3021G>A) c.773+6085G>A c.1155G>A (p.Thr385=) c.1179G>A (p.Thr393=) c.1041G>A (p.Thr347=) c.*524G>A (n.*524G>A) c.1131G>A (p.Thr377=) c.*986G>A (n.*986G>A) c.1152G>A (p.Thr384=) c.1014G>A (p.Thr338=) c.1209G>A (p.Thr403=) c.1332G>A (p.Thr444=) c.1255+3021G>A (n.1255+3021G>A) c.1132+6085G>A (n.1132+6085G>A) c.1203G>A (p.Thr401=) c.1032G>A (p.Thr344=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13081756G>C | CA505651484 | NFIX | c.1029G>C (p.Thr343=) c.1075+3021G>C (n.1075+3021G>C) c.773+6085G>C c.1155G>C (p.Thr385=) c.1179G>C (p.Thr393=) c.1041G>C (p.Thr347=) c.*524G>C (n.*524G>C) c.1131G>C (p.Thr377=) c.*986G>C (n.*986G>C) c.1152G>C (p.Thr384=) c.1014G>C (p.Thr338=) c.1209G>C (p.Thr403=) c.1332G>C (p.Thr444=) c.1255+3021G>C (n.1255+3021G>C) c.1132+6085G>C (n.1132+6085G>C) c.1203G>C (p.Thr401=) c.1032G>C (p.Thr344=) | |
19 | g.13081756G= | CA2323714216 | NFIX | c.1029G= (p.Thr343=) c.1075+3021G= (n.1075+3021G=) c.773+6085G= c.1155G= (p.Thr385=) c.1179G= (p.Thr393=) c.1041G= (p.Thr347=) c.*524G= (n.*524G=) c.1131G= (p.Thr377=) c.*986G= (n.*986G=) c.1152G= (p.Thr384=) c.1014G= (p.Thr338=) c.1209G= (p.Thr403=) c.1332G= (p.Thr444=) c.1255+3021G= (n.1255+3021G=) c.1132+6085G= (n.1132+6085G=) c.1203G= (p.Thr401=) c.1032G= (p.Thr344=) | |
19 | g.13081756G>T | CA9237146 | NFIX | c.1029G>T (p.Thr343=) c.1075+3021G>T (n.1075+3021G>T) c.773+6085G>T c.1155G>T (p.Thr385=) c.1179G>T (p.Thr393=) c.1041G>T (p.Thr347=) c.*524G>T (n.*524G>T) c.1131G>T (p.Thr377=) c.*986G>T (n.*986G>T) c.1152G>T (p.Thr384=) c.1014G>T (p.Thr338=) c.1209G>T (p.Thr403=) c.1332G>T (p.Thr444=) c.1255+3021G>T (n.1255+3021G>T) c.1132+6085G>T (n.1132+6085G>T) c.1203G>T (p.Thr401=) c.1032G>T (p.Thr344=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081756_13081757delinsAA | CA2580096565 | NFIX | c.1029_1030delinsAA (p.His344Asn) c.1075+3021_1075+3022delinsAA (n.1075+3021_1075+3022delinsAA) c.773+6085_773+6086delinsAA c.1155_1156delinsAA (p.His386Asn) c.1179_1180delinsAA (p.His394Asn) c.1041_1042delinsAA (p.His348Asn) c.*524_*525delinsAA (n.*524_*525delinsAA) c.1131_1132delinsAA (p.His378Asn) c.*986_*987delinsAA (n.*986_*987delinsAA) c.1152_1153delinsAA (p.His385Asn) c.1014_1015delinsAA (p.His339Asn) c.1209_1210delinsAA (p.His404Asn) c.1332_1333delinsAA (p.His445Asn) c.1255+3021_1255+3022delinsAA (n.1255+3021_1255+3022delinsAA) c.1132+6085_1132+6086delinsAA (n.1132+6085_1132+6086delinsAA) c.1203_1204delinsAA (p.His402Asn) c.1032_1033delinsAA (p.His345Asn) | ClinVar |
19 | g.13081757C>A | CA404304173 | NFIX | c.1030C>A (p.His344Asn) c.1075+3022C>A (n.1075+3022C>A) c.773+6086C>A c.1156C>A (p.His386Asn) c.1180C>A (p.His394Asn) c.1042C>A (p.His348Asn) c.*525C>A (n.*525C>A) c.1132C>A (p.His378Asn) c.*987C>A (n.*987C>A) c.1153C>A (p.His385Asn) c.1015C>A (p.His339Asn) c.1210C>A (p.His404Asn) c.1333C>A (p.His445Asn) c.1255+3022C>A (n.1255+3022C>A) c.1132+6086C>A (n.1132+6086C>A) c.1204C>A (p.His402Asn) c.1033C>A (p.His345Asn) | |
19 | g.13081757C>G | CA404304170 | NFIX | c.1030C>G (p.His344Asp) c.1075+3022C>G (n.1075+3022C>G) c.773+6086C>G c.1156C>G (p.His386Asp) c.1180C>G (p.His394Asp) c.1042C>G (p.His348Asp) c.*525C>G (n.*525C>G) c.1132C>G (p.His378Asp) c.*987C>G (n.*987C>G) c.1153C>G (p.His385Asp) c.1015C>G (p.His339Asp) c.1210C>G (p.His404Asp) c.1333C>G (p.His445Asp) c.1255+3022C>G (n.1255+3022C>G) c.1132+6086C>G (n.1132+6086C>G) c.1204C>G (p.His402Asp) c.1033C>G (p.His345Asp) | |
19 | g.13081757C>T | CA404304167 | NFIX | c.1030C>T (p.His344Tyr) c.1075+3022C>T (n.1075+3022C>T) c.773+6086C>T c.1156C>T (p.His386Tyr) c.1180C>T (p.His394Tyr) c.1042C>T (p.His348Tyr) c.*525C>T (n.*525C>T) c.1132C>T (p.His378Tyr) c.*987C>T (n.*987C>T) c.1153C>T (p.His385Tyr) c.1015C>T (p.His339Tyr) c.1210C>T (p.His404Tyr) c.1333C>T (p.His445Tyr) c.1255+3022C>T (n.1255+3022C>T) c.1132+6086C>T (n.1132+6086C>T) c.1204C>T (p.His402Tyr) c.1033C>T (p.His345Tyr) | COSMIC COSMIC COSMIC |
19 | g.13081758A= | CA2323714217 | NFIX | c.1031A= (p.His344=) c.1075+3023A= (n.1075+3023A=) c.773+6087A= c.1157A= (p.His386=) c.1181A= (p.His394=) c.1043A= (p.His348=) c.*526A= (n.*526A=) c.1133A= (p.His378=) c.*988A= (n.*988A=) c.1154A= (p.His385=) c.1016A= (p.His339=) c.1211A= (p.His404=) c.1334A= (p.His445=) c.1255+3023A= (n.1255+3023A=) c.1132+6087A= (n.1132+6087A=) c.1205A= (p.His402=) c.1034A= (p.His345=) | |
19 | g.13081758A>C | CA9237147 | NFIX | c.1031A>C (p.His344Pro) c.1075+3023A>C (n.1075+3023A>C) c.773+6087A>C c.1157A>C (p.His386Pro) c.1181A>C (p.His394Pro) c.1043A>C (p.His348Pro) c.*526A>C (n.*526A>C) c.1133A>C (p.His378Pro) c.*988A>C (n.*988A>C) c.1154A>C (p.His385Pro) c.1016A>C (p.His339Pro) c.1211A>C (p.His404Pro) c.1334A>C (p.His445Pro) c.1255+3023A>C (n.1255+3023A>C) c.1132+6087A>C (n.1132+6087A>C) c.1205A>C (p.His402Pro) c.1034A>C (p.His345Pro) | dbSNP ExAC gnomAD v4 |
19 | g.13081758A>G | CA404304178 | NFIX | c.1031A>G (p.His344Arg) c.1075+3023A>G (n.1075+3023A>G) c.773+6087A>G c.1157A>G (p.His386Arg) c.1181A>G (p.His394Arg) c.1043A>G (p.His348Arg) c.*526A>G (n.*526A>G) c.1133A>G (p.His378Arg) c.*988A>G (n.*988A>G) c.1154A>G (p.His385Arg) c.1016A>G (p.His339Arg) c.1211A>G (p.His404Arg) c.1334A>G (p.His445Arg) c.1255+3023A>G (n.1255+3023A>G) c.1132+6087A>G (n.1132+6087A>G) c.1205A>G (p.His402Arg) c.1034A>G (p.His345Arg) | |
19 | g.13081758A>T | CA404304181 | NFIX | c.1031A>T (p.His344Leu) c.1075+3023A>T (n.1075+3023A>T) c.773+6087A>T c.1157A>T (p.His386Leu) c.1181A>T (p.His394Leu) c.1043A>T (p.His348Leu) c.*526A>T (n.*526A>T) c.1133A>T (p.His378Leu) c.*988A>T (n.*988A>T) c.1154A>T (p.His385Leu) c.1016A>T (p.His339Leu) c.1211A>T (p.His404Leu) c.1334A>T (p.His445Leu) c.1255+3023A>T (n.1255+3023A>T) c.1132+6087A>T (n.1132+6087A>T) c.1205A>T (p.His402Leu) c.1034A>T (p.His345Leu) | |
19 | g.13081759C>A | CA404304185 | NFIX | c.1032C>A (p.His344Gln) c.1075+3024C>A (n.1075+3024C>A) c.773+6088C>A c.1158C>A (p.His386Gln) c.1182C>A (p.His394Gln) c.1044C>A (p.His348Gln) c.*527C>A (n.*527C>A) c.1134C>A (p.His378Gln) c.*989C>A (n.*989C>A) c.1155C>A (p.His385Gln) c.1017C>A (p.His339Gln) c.1212C>A (p.His404Gln) c.1335C>A (p.His445Gln) c.1255+3024C>A (n.1255+3024C>A) c.1132+6088C>A (n.1132+6088C>A) c.1206C>A (p.His402Gln) c.1035C>A (p.His345Gln) | |
19 | g.13081759C>G | CA404304189 | NFIX | c.1032C>G (p.His344Gln) c.1075+3024C>G (n.1075+3024C>G) c.773+6088C>G c.1158C>G (p.His386Gln) c.1182C>G (p.His394Gln) c.1044C>G (p.His348Gln) c.*527C>G (n.*527C>G) c.1134C>G (p.His378Gln) c.*989C>G (n.*989C>G) c.1155C>G (p.His385Gln) c.1017C>G (p.His339Gln) c.1212C>G (p.His404Gln) c.1335C>G (p.His445Gln) c.1255+3024C>G (n.1255+3024C>G) c.1132+6088C>G (n.1132+6088C>G) c.1206C>G (p.His402Gln) c.1035C>G (p.His345Gln) | |
19 | g.13081759C>T | CA505651487 | NFIX | c.1032C>T (p.His344=) c.1075+3024C>T (n.1075+3024C>T) c.773+6088C>T c.1158C>T (p.His386=) c.1182C>T (p.His394=) c.1044C>T (p.His348=) c.*527C>T (n.*527C>T) c.1134C>T (p.His378=) c.*989C>T (n.*989C>T) c.1155C>T (p.His385=) c.1017C>T (p.His339=) c.1212C>T (p.His404=) c.1335C>T (p.His445=) c.1255+3024C>T (n.1255+3024C>T) c.1132+6088C>T (n.1132+6088C>T) c.1206C>T (p.His402=) c.1035C>T (p.His345=) | gnomAD v4 |
19 | g.13081761dup | CA2839537544 | NFIX | c.1034dup (p.Thr346AspfsTer?) c.1075+3026dup (n.1075+3026dup) c.773+6090dup c.1160dup (p.Thr388AspfsTer?) c.1184dup (p.Thr396AspfsTer?) c.1046dup (p.Thr350AspfsTer?) c.*529dup (n.*529dup) c.1136dup (p.Thr380AspfsTer?) c.*991dup (n.*991dup) c.1157dup (p.Thr387AspfsTer?) c.1019dup (p.Thr341AspfsTer?) c.1214dup (p.Thr406AspfsTer?) c.1337dup (p.Thr447AspfsTer?) c.1255+3026dup (n.1255+3026dup) c.1132+6090dup (n.1132+6090dup) c.1208dup (p.Thr404AspfsTer?) c.1037dup (p.Thr347AspfsTer?) | |
19 | g.13081761del | CA2582790529 | NFIX | c.1034del (p.Pro345ArgfsTer14) c.1075+3026del (n.1075+3026del) c.773+6090del c.1160del (p.Pro387ArgfsTer14) c.1184del (p.Pro395ArgfsTer14) c.1046del (p.Pro349ArgfsTer14) c.*529del (n.*529del) c.1136del (p.Pro379ArgfsTer14) c.*991del (n.*991del) c.1157del (p.Pro386ArgfsTer14) c.1019del (p.Pro340ArgfsTer14) c.1214del (p.Pro405ArgfsTer14) c.1337del (p.Pro446ArgfsTer14) c.1255+3026del (n.1255+3026del) c.1132+6090del (n.1132+6090del) c.1208del (p.Pro403ArgfsTer14) c.1037del (p.Pro346ArgfsTer14) | gnomAD v4 |
19 | g.13081760C>A | CA404304196 | NFIX | c.1033C>A (p.Pro345Thr) c.1075+3025C>A (n.1075+3025C>A) c.773+6089C>A c.1159C>A (p.Pro387Thr) c.1183C>A (p.Pro395Thr) c.1045C>A (p.Pro349Thr) c.*528C>A (n.*528C>A) c.1135C>A (p.Pro379Thr) c.*990C>A (n.*990C>A) c.1156C>A (p.Pro386Thr) c.1018C>A (p.Pro340Thr) c.1213C>A (p.Pro405Thr) c.1336C>A (p.Pro446Thr) c.1255+3025C>A (n.1255+3025C>A) c.1132+6089C>A (n.1132+6089C>A) c.1207C>A (p.Pro403Thr) c.1036C>A (p.Pro346Thr) | |
19 | g.13081760C= | CA2323714218 | NFIX | c.1033C= (p.Pro345=) c.1075+3025C= (n.1075+3025C=) c.773+6089C= c.1159C= (p.Pro387=) c.1183C= (p.Pro395=) c.1045C= (p.Pro349=) c.*528C= (n.*528C=) c.1135C= (p.Pro379=) c.*990C= (n.*990C=) c.1156C= (p.Pro386=) c.1018C= (p.Pro340=) c.1213C= (p.Pro405=) c.1336C= (p.Pro446=) c.1255+3025C= (n.1255+3025C=) c.1132+6089C= (n.1132+6089C=) c.1207C= (p.Pro403=) c.1036C= (p.Pro346=) | |
19 | g.13081760C>G | CA404304198 | NFIX | c.1033C>G (p.Pro345Ala) c.1075+3025C>G (n.1075+3025C>G) c.773+6089C>G c.1159C>G (p.Pro387Ala) c.1183C>G (p.Pro395Ala) c.1045C>G (p.Pro349Ala) c.*528C>G (n.*528C>G) c.1135C>G (p.Pro379Ala) c.*990C>G (n.*990C>G) c.1156C>G (p.Pro386Ala) c.1018C>G (p.Pro340Ala) c.1213C>G (p.Pro405Ala) c.1336C>G (p.Pro446Ala) c.1255+3025C>G (n.1255+3025C>G) c.1132+6089C>G (n.1132+6089C>G) c.1207C>G (p.Pro403Ala) c.1036C>G (p.Pro346Ala) | |
19 | g.13081760C>T | CA404304200 | NFIX | c.1033C>T (p.Pro345Ser) c.1075+3025C>T (n.1075+3025C>T) c.773+6089C>T c.1159C>T (p.Pro387Ser) c.1183C>T (p.Pro395Ser) c.1045C>T (p.Pro349Ser) c.*528C>T (n.*528C>T) c.1135C>T (p.Pro379Ser) c.*990C>T (n.*990C>T) c.1156C>T (p.Pro386Ser) c.1018C>T (p.Pro340Ser) c.1213C>T (p.Pro405Ser) c.1336C>T (p.Pro446Ser) c.1255+3025C>T (n.1255+3025C>T) c.1132+6089C>T (n.1132+6089C>T) c.1207C>T (p.Pro403Ser) c.1036C>T (p.Pro346Ser) | dbSNP |
19 | g.13081761C>A | CA404304203 | NFIX | c.1034C>A (p.Pro345Gln) c.1075+3026C>A (n.1075+3026C>A) c.773+6090C>A c.1160C>A (p.Pro387Gln) c.1184C>A (p.Pro395Gln) c.1046C>A (p.Pro349Gln) c.*529C>A (n.*529C>A) c.1136C>A (p.Pro379Gln) c.*991C>A (n.*991C>A) c.1157C>A (p.Pro386Gln) c.1019C>A (p.Pro340Gln) c.1214C>A (p.Pro405Gln) c.1337C>A (p.Pro446Gln) c.1255+3026C>A (n.1255+3026C>A) c.1132+6090C>A (n.1132+6090C>A) c.1208C>A (p.Pro403Gln) c.1037C>A (p.Pro346Gln) | |
19 | g.13081761C= | CA2323714219 | NFIX | c.1034C= (p.Pro345=) c.1075+3026C= (n.1075+3026C=) c.773+6090C= c.1160C= (p.Pro387=) c.1184C= (p.Pro395=) c.1046C= (p.Pro349=) c.*529C= (n.*529C=) c.1136C= (p.Pro379=) c.*991C= (n.*991C=) c.1157C= (p.Pro386=) c.1019C= (p.Pro340=) c.1214C= (p.Pro405=) c.1337C= (p.Pro446=) c.1255+3026C= (n.1255+3026C=) c.1132+6090C= (n.1132+6090C=) c.1208C= (p.Pro403=) c.1037C= (p.Pro346=) | |
19 | g.13081761C>G | CA404304205 | NFIX | c.1034C>G (p.Pro345Arg) c.1075+3026C>G (n.1075+3026C>G) c.773+6090C>G c.1160C>G (p.Pro387Arg) c.1184C>G (p.Pro395Arg) c.1046C>G (p.Pro349Arg) c.*529C>G (n.*529C>G) c.1136C>G (p.Pro379Arg) c.*991C>G (n.*991C>G) c.1157C>G (p.Pro386Arg) c.1019C>G (p.Pro340Arg) c.1214C>G (p.Pro405Arg) c.1337C>G (p.Pro446Arg) c.1255+3026C>G (n.1255+3026C>G) c.1132+6090C>G (n.1132+6090C>G) c.1208C>G (p.Pro403Arg) c.1037C>G (p.Pro346Arg) | gnomAD v4 |
19 | g.13081761C>T | CA404304207 | NFIX | c.1034C>T (p.Pro345Leu) c.1075+3026C>T (n.1075+3026C>T) c.773+6090C>T c.1160C>T (p.Pro387Leu) c.1184C>T (p.Pro395Leu) c.1046C>T (p.Pro349Leu) c.*529C>T (n.*529C>T) c.1136C>T (p.Pro379Leu) c.*991C>T (n.*991C>T) c.1157C>T (p.Pro386Leu) c.1019C>T (p.Pro340Leu) c.1214C>T (p.Pro405Leu) c.1337C>T (p.Pro446Leu) c.1255+3026C>T (n.1255+3026C>T) c.1132+6090C>T (n.1132+6090C>T) c.1208C>T (p.Pro403Leu) c.1037C>T (p.Pro346Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.13081762G>A | CA9237148 | NFIX | c.1035G>A (p.Pro345=) c.1075+3027G>A (n.1075+3027G>A) c.773+6091G>A c.1161G>A (p.Pro387=) c.1185G>A (p.Pro395=) c.1047G>A (p.Pro349=) c.*530G>A (n.*530G>A) c.1137G>A (p.Pro379=) c.*992G>A (n.*992G>A) c.1158G>A (p.Pro386=) c.1020G>A (p.Pro340=) c.1215G>A (p.Pro405=) c.1338G>A (p.Pro446=) c.1255+3027G>A (n.1255+3027G>A) c.1132+6091G>A (n.1132+6091G>A) c.1209G>A (p.Pro403=) c.1038G>A (p.Pro346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081762G>C | CA505651490 | NFIX | c.1035G>C (p.Pro345=) c.1075+3027G>C (n.1075+3027G>C) c.773+6091G>C c.1161G>C (p.Pro387=) c.1185G>C (p.Pro395=) c.1047G>C (p.Pro349=) c.*530G>C (n.*530G>C) c.1137G>C (p.Pro379=) c.*992G>C (n.*992G>C) c.1158G>C (p.Pro386=) c.1020G>C (p.Pro340=) c.1215G>C (p.Pro405=) c.1338G>C (p.Pro446=) c.1255+3027G>C (n.1255+3027G>C) c.1132+6091G>C (n.1132+6091G>C) c.1209G>C (p.Pro403=) c.1038G>C (p.Pro346=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081762G= | CA2323714220 | NFIX | c.1035G= (p.Pro345=) c.1075+3027G= (n.1075+3027G=) c.773+6091G= c.1161G= (p.Pro387=) c.1185G= (p.Pro395=) c.1047G= (p.Pro349=) c.*530G= (n.*530G=) c.1137G= (p.Pro379=) c.*992G= (n.*992G=) c.1158G= (p.Pro386=) c.1020G= (p.Pro340=) c.1215G= (p.Pro405=) c.1338G= (p.Pro446=) c.1255+3027G= (n.1255+3027G=) c.1132+6091G= (n.1132+6091G=) c.1209G= (p.Pro403=) c.1038G= (p.Pro346=) | |
19 | g.13081762G>T | CA505651489 | NFIX | c.1035G>T (p.Pro345=) c.1075+3027G>T (n.1075+3027G>T) c.773+6091G>T c.1161G>T (p.Pro387=) c.1185G>T (p.Pro395=) c.1047G>T (p.Pro349=) c.*530G>T (n.*530G>T) c.1137G>T (p.Pro379=) c.*992G>T (n.*992G>T) c.1158G>T (p.Pro386=) c.1020G>T (p.Pro340=) c.1215G>T (p.Pro405=) c.1338G>T (p.Pro446=) c.1255+3027G>T (n.1255+3027G>T) c.1132+6091G>T (n.1132+6091G>T) c.1209G>T (p.Pro403=) c.1038G>T (p.Pro346=) | gnomAD v4 |
19 | g.13081763A= | CA2323714221 | NFIX | c.1036A= (p.Thr346=) c.1075+3028A= (n.1075+3028A=) c.773+6092A= c.1162A= (p.Thr388=) c.1186A= (p.Thr396=) c.1048A= (p.Thr350=) c.*531A= (n.*531A=) c.1138A= (p.Thr380=) c.*993A= (n.*993A=) c.1159A= (p.Thr387=) c.1021A= (p.Thr341=) c.1216A= (p.Thr406=) c.1339A= (p.Thr447=) c.1255+3028A= (n.1255+3028A=) c.1132+6092A= (n.1132+6092A=) c.1210A= (p.Thr404=) c.1039A= (p.Thr347=) | |
19 | g.13081763A>C | CA9237149 | NFIX | c.1036A>C (p.Thr346Pro) c.1075+3028A>C (n.1075+3028A>C) c.773+6092A>C c.1162A>C (p.Thr388Pro) c.1186A>C (p.Thr396Pro) c.1048A>C (p.Thr350Pro) c.*531A>C (n.*531A>C) c.1138A>C (p.Thr380Pro) c.*993A>C (n.*993A>C) c.1159A>C (p.Thr387Pro) c.1021A>C (p.Thr341Pro) c.1216A>C (p.Thr406Pro) c.1339A>C (p.Thr447Pro) c.1255+3028A>C (n.1255+3028A>C) c.1132+6092A>C (n.1132+6092A>C) c.1210A>C (p.Thr404Pro) c.1039A>C (p.Thr347Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13081763A>G | CA404304216 | NFIX | c.1036A>G (p.Thr346Ala) c.1075+3028A>G (n.1075+3028A>G) c.773+6092A>G c.1162A>G (p.Thr388Ala) c.1186A>G (p.Thr396Ala) c.1048A>G (p.Thr350Ala) c.*531A>G (n.*531A>G) c.1138A>G (p.Thr380Ala) c.*993A>G (n.*993A>G) c.1159A>G (p.Thr387Ala) c.1021A>G (p.Thr341Ala) c.1216A>G (p.Thr406Ala) c.1339A>G (p.Thr447Ala) c.1255+3028A>G (n.1255+3028A>G) c.1132+6092A>G (n.1132+6092A>G) c.1210A>G (p.Thr404Ala) c.1039A>G (p.Thr347Ala) | dbSNP gnomAD v2 |
19 | g.13081763A>T | CA404304213 | NFIX | c.1036A>T (p.Thr346Ser) c.1075+3028A>T (n.1075+3028A>T) c.773+6092A>T c.1162A>T (p.Thr388Ser) c.1186A>T (p.Thr396Ser) c.1048A>T (p.Thr350Ser) c.*531A>T (n.*531A>T) c.1138A>T (p.Thr380Ser) c.*993A>T (n.*993A>T) c.1159A>T (p.Thr387Ser) c.1021A>T (p.Thr341Ser) c.1216A>T (p.Thr406Ser) c.1339A>T (p.Thr447Ser) c.1255+3028A>T (n.1255+3028A>T) c.1132+6092A>T (n.1132+6092A>T) c.1210A>T (p.Thr404Ser) c.1039A>T (p.Thr347Ser) | |
19 | g.13081764C>A | CA404304220 | NFIX | c.1037C>A (p.Thr346Asn) c.1075+3029C>A (n.1075+3029C>A) c.773+6093C>A c.1163C>A (p.Thr388Asn) c.1187C>A (p.Thr396Asn) c.1049C>A (p.Thr350Asn) c.*532C>A (n.*532C>A) c.1139C>A (p.Thr380Asn) c.*994C>A (n.*994C>A) c.1160C>A (p.Thr387Asn) c.1022C>A (p.Thr341Asn) c.1217C>A (p.Thr406Asn) c.1340C>A (p.Thr447Asn) c.1255+3029C>A (n.1255+3029C>A) c.1132+6093C>A (n.1132+6093C>A) c.1211C>A (p.Thr404Asn) c.1040C>A (p.Thr347Asn) | |
19 | g.13081764C>G | CA404304225 | NFIX | c.1037C>G (p.Thr346Ser) c.1075+3029C>G (n.1075+3029C>G) c.773+6093C>G c.1163C>G (p.Thr388Ser) c.1187C>G (p.Thr396Ser) c.1049C>G (p.Thr350Ser) c.*532C>G (n.*532C>G) c.1139C>G (p.Thr380Ser) c.*994C>G (n.*994C>G) c.1160C>G (p.Thr387Ser) c.1022C>G (p.Thr341Ser) c.1217C>G (p.Thr406Ser) c.1340C>G (p.Thr447Ser) c.1255+3029C>G (n.1255+3029C>G) c.1132+6093C>G (n.1132+6093C>G) c.1211C>G (p.Thr404Ser) c.1040C>G (p.Thr347Ser) | |
19 | g.13081764C>T | CA404304222 | NFIX | c.1037C>T (p.Thr346Ile) c.1075+3029C>T (n.1075+3029C>T) c.773+6093C>T c.1163C>T (p.Thr388Ile) c.1187C>T (p.Thr396Ile) c.1049C>T (p.Thr350Ile) c.*532C>T (n.*532C>T) c.1139C>T (p.Thr380Ile) c.*994C>T (n.*994C>T) c.1160C>T (p.Thr387Ile) c.1022C>T (p.Thr341Ile) c.1217C>T (p.Thr406Ile) c.1340C>T (p.Thr447Ile) c.1255+3029C>T (n.1255+3029C>T) c.1132+6093C>T (n.1132+6093C>T) c.1211C>T (p.Thr404Ile) c.1040C>T (p.Thr347Ile) | |
19 | g.13081765C>A | CA505651491 | NFIX | c.1038C>A (p.Thr346=) c.1075+3030C>A (n.1075+3030C>A) c.773+6094C>A c.1164C>A (p.Thr388=) c.1188C>A (p.Thr396=) c.1050C>A (p.Thr350=) c.*533C>A (n.*533C>A) c.1140C>A (p.Thr380=) c.*995C>A (n.*995C>A) c.1161C>A (p.Thr387=) c.1023C>A (p.Thr341=) c.1218C>A (p.Thr406=) c.1341C>A (p.Thr447=) c.1255+3030C>A (n.1255+3030C>A) c.1132+6094C>A (n.1132+6094C>A) c.1212C>A (p.Thr404=) c.1041C>A (p.Thr347=) | |
19 | g.13081765C>G | CA505651492 | NFIX | c.1038C>G (p.Thr346=) c.1075+3030C>G (n.1075+3030C>G) c.773+6094C>G c.1164C>G (p.Thr388=) c.1188C>G (p.Thr396=) c.1050C>G (p.Thr350=) c.*533C>G (n.*533C>G) c.1140C>G (p.Thr380=) c.*995C>G (n.*995C>G) c.1161C>G (p.Thr387=) c.1023C>G (p.Thr341=) c.1218C>G (p.Thr406=) c.1341C>G (p.Thr447=) c.1255+3030C>G (n.1255+3030C>G) c.1132+6094C>G (n.1132+6094C>G) c.1212C>G (p.Thr404=) c.1041C>G (p.Thr347=) | |
19 | g.13081765C>T | CA505651494 | NFIX | c.1038C>T (p.Thr346=) c.1075+3030C>T (n.1075+3030C>T) c.773+6094C>T c.1164C>T (p.Thr388=) c.1188C>T (p.Thr396=) c.1050C>T (p.Thr350=) c.*533C>T (n.*533C>T) c.1140C>T (p.Thr380=) c.*995C>T (n.*995C>T) c.1161C>T (p.Thr387=) c.1023C>T (p.Thr341=) c.1218C>T (p.Thr406=) c.1341C>T (p.Thr447=) c.1255+3030C>T (n.1255+3030C>T) c.1132+6094C>T (n.1132+6094C>T) c.1212C>T (p.Thr404=) c.1041C>T (p.Thr347=) | |
19 | g.13081766A>C | CA404304229 | NFIX | c.1039A>C (p.Ile347Leu) c.1075+3031A>C (n.1075+3031A>C) c.773+6095A>C c.1165A>C (p.Ile389Leu) c.1189A>C (p.Ile397Leu) c.1051A>C (p.Ile351Leu) c.*534A>C (n.*534A>C) c.1141A>C (p.Ile381Leu) c.*996A>C (n.*996A>C) c.1162A>C (p.Ile388Leu) c.1024A>C (p.Ile342Leu) c.1219A>C (p.Ile407Leu) c.1342A>C (p.Ile448Leu) c.1255+3031A>C (n.1255+3031A>C) c.1132+6095A>C (n.1132+6095A>C) c.1213A>C (p.Ile405Leu) c.1042A>C (p.Ile348Leu) | |
19 | g.13081766A>G | CA404304234 | NFIX | c.1039A>G (p.Ile347Val) c.1075+3031A>G (n.1075+3031A>G) c.773+6095A>G c.1165A>G (p.Ile389Val) c.1189A>G (p.Ile397Val) c.1051A>G (p.Ile351Val) c.*534A>G (n.*534A>G) c.1141A>G (p.Ile381Val) c.*996A>G (n.*996A>G) c.1162A>G (p.Ile388Val) c.1024A>G (p.Ile342Val) c.1219A>G (p.Ile407Val) c.1342A>G (p.Ile448Val) c.1255+3031A>G (n.1255+3031A>G) c.1132+6095A>G (n.1132+6095A>G) c.1213A>G (p.Ile405Val) c.1042A>G (p.Ile348Val) | |
19 | g.13081766A>T | CA404304232 | NFIX | c.1039A>T (p.Ile347Phe) c.1075+3031A>T (n.1075+3031A>T) c.773+6095A>T c.1165A>T (p.Ile389Phe) c.1189A>T (p.Ile397Phe) c.1051A>T (p.Ile351Phe) c.*534A>T (n.*534A>T) c.1141A>T (p.Ile381Phe) c.*996A>T (n.*996A>T) c.1162A>T (p.Ile388Phe) c.1024A>T (p.Ile342Phe) c.1219A>T (p.Ile407Phe) c.1342A>T (p.Ile448Phe) c.1255+3031A>T (n.1255+3031A>T) c.1132+6095A>T (n.1132+6095A>T) c.1213A>T (p.Ile405Phe) c.1042A>T (p.Ile348Phe) | |
19 | g.13081767T>A | CA404304241 | NFIX | c.1040T>A (p.Ile347Asn) c.1075+3032T>A (n.1075+3032T>A) c.773+6096T>A c.1166T>A (p.Ile389Asn) c.1190T>A (p.Ile397Asn) c.1052T>A (p.Ile351Asn) c.*535T>A (n.*535T>A) c.1142T>A (p.Ile381Asn) c.*997T>A (n.*997T>A) c.1163T>A (p.Ile388Asn) c.1025T>A (p.Ile342Asn) c.1220T>A (p.Ile407Asn) c.1343T>A (p.Ile448Asn) c.1255+3032T>A (n.1255+3032T>A) c.1132+6096T>A (n.1132+6096T>A) c.1214T>A (p.Ile405Asn) c.1043T>A (p.Ile348Asn) | |
19 | g.13081767T>C | CA404304244 | NFIX | c.1040T>C (p.Ile347Thr) c.1075+3032T>C (n.1075+3032T>C) c.773+6096T>C c.1166T>C (p.Ile389Thr) c.1190T>C (p.Ile397Thr) c.1052T>C (p.Ile351Thr) c.*535T>C (n.*535T>C) c.1142T>C (p.Ile381Thr) c.*997T>C (n.*997T>C) c.1163T>C (p.Ile388Thr) c.1025T>C (p.Ile342Thr) c.1220T>C (p.Ile407Thr) c.1343T>C (p.Ile448Thr) c.1255+3032T>C (n.1255+3032T>C) c.1132+6096T>C (n.1132+6096T>C) c.1214T>C (p.Ile405Thr) c.1043T>C (p.Ile348Thr) | |
19 | g.13081767T>G | CA404304247 | NFIX | c.1040T>G (p.Ile347Ser) c.1075+3032T>G (n.1075+3032T>G) c.773+6096T>G c.1166T>G (p.Ile389Ser) c.1190T>G (p.Ile397Ser) c.1052T>G (p.Ile351Ser) c.*535T>G (n.*535T>G) c.1142T>G (p.Ile381Ser) c.*997T>G (n.*997T>G) c.1163T>G (p.Ile388Ser) c.1025T>G (p.Ile342Ser) c.1220T>G (p.Ile407Ser) c.1343T>G (p.Ile448Ser) c.1255+3032T>G (n.1255+3032T>G) c.1132+6096T>G (n.1132+6096T>G) c.1214T>G (p.Ile405Ser) c.1043T>G (p.Ile348Ser) | |
19 | g.13081768C>A | CA505651495 | NFIX | c.1041C>A (p.Ile347=) c.1075+3033C>A (n.1075+3033C>A) c.773+6097C>A c.1167C>A (p.Ile389=) c.1191C>A (p.Ile397=) c.1053C>A (p.Ile351=) c.*536C>A (n.*536C>A) c.1143C>A (p.Ile381=) c.*998C>A (n.*998C>A) c.1164C>A (p.Ile388=) c.1026C>A (p.Ile342=) c.1221C>A (p.Ile407=) c.1344C>A (p.Ile448=) c.1255+3033C>A (n.1255+3033C>A) c.1132+6097C>A (n.1132+6097C>A) c.1215C>A (p.Ile405=) c.1044C>A (p.Ile348=) | gnomAD v4 |
19 | g.13081768C= | CA2323714222 | NFIX | c.1041C= (p.Ile347=) c.1075+3033C= (n.1075+3033C=) c.773+6097C= c.1167C= (p.Ile389=) c.1191C= (p.Ile397=) c.1053C= (p.Ile351=) c.*536C= (n.*536C=) c.1143C= (p.Ile381=) c.*998C= (n.*998C=) c.1164C= (p.Ile388=) c.1026C= (p.Ile342=) c.1221C= (p.Ile407=) c.1344C= (p.Ile448=) c.1255+3033C= (n.1255+3033C=) c.1132+6097C= (n.1132+6097C=) c.1215C= (p.Ile405=) c.1044C= (p.Ile348=) | |
19 | g.13081768C>G | CA404304250 | NFIX | c.1041C>G (p.Ile347Met) c.1075+3033C>G (n.1075+3033C>G) c.773+6097C>G c.1167C>G (p.Ile389Met) c.1191C>G (p.Ile397Met) c.1053C>G (p.Ile351Met) c.*536C>G (n.*536C>G) c.1143C>G (p.Ile381Met) c.*998C>G (n.*998C>G) c.1164C>G (p.Ile388Met) c.1026C>G (p.Ile342Met) c.1221C>G (p.Ile407Met) c.1344C>G (p.Ile448Met) c.1255+3033C>G (n.1255+3033C>G) c.1132+6097C>G (n.1132+6097C>G) c.1215C>G (p.Ile405Met) c.1044C>G (p.Ile348Met) | |
19 | g.13081768C>T | CA505651496 | NFIX | c.1041C>T (p.Ile347=) c.1075+3033C>T (n.1075+3033C>T) c.773+6097C>T c.1167C>T (p.Ile389=) c.1191C>T (p.Ile397=) c.1053C>T (p.Ile351=) c.*536C>T (n.*536C>T) c.1143C>T (p.Ile381=) c.*998C>T (n.*998C>T) c.1164C>T (p.Ile388=) c.1026C>T (p.Ile342=) c.1221C>T (p.Ile407=) c.1344C>T (p.Ile448=) c.1255+3033C>T (n.1255+3033C>T) c.1132+6097C>T (n.1132+6097C>T) c.1215C>T (p.Ile405=) c.1044C>T (p.Ile348=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.13081770_13081775dup | CA2580096566 | NFIX | c.1043_1048dup (p.Tyr349_His350insArgTyr) c.1075+3035_1075+3040dup (n.1075+3035_1075+3040dup) c.773+6099_773+6104dup c.1169_1174dup (p.Tyr391_His392insArgTyr) c.1193_1198dup (p.Tyr399_His400insArgTyr) c.1055_1060dup (p.Tyr353_His354insArgTyr) c.*538_*543dup (n.*538_*543dup) c.1145_1150dup (p.Tyr383_His384insArgTyr) c.*1000_*1005dup (n.*1000_*1005dup) c.1166_1171dup (p.Tyr390_His391insArgTyr) c.1028_1033dup (p.Tyr344_His345insArgTyr) c.1223_1228dup (p.Tyr409_His410insArgTyr) c.1346_1351dup (p.Tyr450_His451insArgTyr) c.1255+3035_1255+3040dup (n.1255+3035_1255+3040dup) c.1132+6099_1132+6104dup (n.1132+6099_1132+6104dup) c.1217_1222dup (p.Tyr407_His408insArgTyr) c.1046_1051dup (p.Tyr350_His351insArgTyr) | ClinVar |
19 | g.13081769C>A | CA404304254 | NFIX | c.1042C>A (p.Arg348Ser) c.1075+3034C>A (n.1075+3034C>A) c.773+6098C>A c.1168C>A (p.Arg390Ser) c.1192C>A (p.Arg398Ser) c.1054C>A (p.Arg352Ser) c.*537C>A (n.*537C>A) c.1144C>A (p.Arg382Ser) c.*999C>A (n.*999C>A) c.1165C>A (p.Arg389Ser) c.1027C>A (p.Arg343Ser) c.1222C>A (p.Arg408Ser) c.1345C>A (p.Arg449Ser) c.1255+3034C>A (n.1255+3034C>A) c.1132+6098C>A (n.1132+6098C>A) c.1216C>A (p.Arg406Ser) c.1045C>A (p.Arg349Ser) | |
19 | g.13081769C>G | CA404304256 | NFIX | c.1042C>G (p.Arg348Gly) c.1075+3034C>G (n.1075+3034C>G) c.773+6098C>G c.1168C>G (p.Arg390Gly) c.1192C>G (p.Arg398Gly) c.1054C>G (p.Arg352Gly) c.*537C>G (n.*537C>G) c.1144C>G (p.Arg382Gly) c.*999C>G (n.*999C>G) c.1165C>G (p.Arg389Gly) c.1027C>G (p.Arg343Gly) c.1222C>G (p.Arg408Gly) c.1345C>G (p.Arg449Gly) c.1255+3034C>G (n.1255+3034C>G) c.1132+6098C>G (n.1132+6098C>G) c.1216C>G (p.Arg406Gly) c.1045C>G (p.Arg349Gly) | gnomAD v4 |
19 | g.13081769C>T | CA404304258 | NFIX | c.1042C>T (p.Arg348Cys) c.1075+3034C>T (n.1075+3034C>T) c.773+6098C>T c.1168C>T (p.Arg390Cys) c.1192C>T (p.Arg398Cys) c.1054C>T (p.Arg352Cys) c.*537C>T (n.*537C>T) c.1144C>T (p.Arg382Cys) c.*999C>T (n.*999C>T) c.1165C>T (p.Arg389Cys) c.1027C>T (p.Arg343Cys) c.1222C>T (p.Arg408Cys) c.1345C>T (p.Arg449Cys) c.1255+3034C>T (n.1255+3034C>T) c.1132+6098C>T (n.1132+6098C>T) c.1216C>T (p.Arg406Cys) c.1045C>T (p.Arg349Cys) | |
19 | g.13081770G>A | CA404304261 | NFIX | c.1043G>A (p.Arg348His) c.1075+3035G>A (n.1075+3035G>A) c.773+6099G>A c.1169G>A (p.Arg390His) c.1193G>A (p.Arg398His) c.1055G>A (p.Arg352His) c.*538G>A (n.*538G>A) c.1145G>A (p.Arg382His) c.*1000G>A (n.*1000G>A) c.1166G>A (p.Arg389His) c.1028G>A (p.Arg343His) c.1223G>A (p.Arg408His) c.1346G>A (p.Arg449His) c.1255+3035G>A (n.1255+3035G>A) c.1132+6099G>A (n.1132+6099G>A) c.1217G>A (p.Arg406His) c.1046G>A (p.Arg349His) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.13081770G>C | CA404304263 | NFIX | c.1043G>C (p.Arg348Pro) c.1075+3035G>C (n.1075+3035G>C) c.773+6099G>C c.1169G>C (p.Arg390Pro) c.1193G>C (p.Arg398Pro) c.1055G>C (p.Arg352Pro) c.*538G>C (n.*538G>C) c.1145G>C (p.Arg382Pro) c.*1000G>C (n.*1000G>C) c.1166G>C (p.Arg389Pro) c.1028G>C (p.Arg343Pro) c.1223G>C (p.Arg408Pro) c.1346G>C (p.Arg449Pro) c.1255+3035G>C (n.1255+3035G>C) c.1132+6099G>C (n.1132+6099G>C) c.1217G>C (p.Arg406Pro) c.1046G>C (p.Arg349Pro) | |
19 | g.13081770G= | CA2323714223 | NFIX | c.1043G= (p.Arg348=) c.1075+3035G= (n.1075+3035G=) c.773+6099G= c.1169G= (p.Arg390=) c.1193G= (p.Arg398=) c.1055G= (p.Arg352=) c.*538G= (n.*538G=) c.1145G= (p.Arg382=) c.*1000G= (n.*1000G=) c.1166G= (p.Arg389=) c.1028G= (p.Arg343=) c.1223G= (p.Arg408=) c.1346G= (p.Arg449=) c.1255+3035G= (n.1255+3035G=) c.1132+6099G= (n.1132+6099G=) c.1217G= (p.Arg406=) c.1046G= (p.Arg349=) | |
19 | g.13081770G>T | CA404304265 | NFIX | c.1043G>T (p.Arg348Leu) c.1075+3035G>T (n.1075+3035G>T) c.773+6099G>T c.1169G>T (p.Arg390Leu) c.1193G>T (p.Arg398Leu) c.1055G>T (p.Arg352Leu) c.*538G>T (n.*538G>T) c.1145G>T (p.Arg382Leu) c.*1000G>T (n.*1000G>T) c.1166G>T (p.Arg389Leu) c.1028G>T (p.Arg343Leu) c.1223G>T (p.Arg408Leu) c.1346G>T (p.Arg449Leu) c.1255+3035G>T (n.1255+3035G>T) c.1132+6099G>T (n.1132+6099G>T) c.1217G>T (p.Arg406Leu) c.1046G>T (p.Arg349Leu) | |
19 | g.13081771C>A | CA505651499 | NFIX | c.1044C>A (p.Arg348=) c.1075+3036C>A (n.1075+3036C>A) c.773+6100C>A c.1170C>A (p.Arg390=) c.1194C>A (p.Arg398=) c.1056C>A (p.Arg352=) c.*539C>A (n.*539C>A) c.1146C>A (p.Arg382=) c.*1001C>A (n.*1001C>A) c.1167C>A (p.Arg389=) c.1029C>A (p.Arg343=) c.1224C>A (p.Arg408=) c.1347C>A (p.Arg449=) c.1255+3036C>A (n.1255+3036C>A) c.1132+6100C>A (n.1132+6100C>A) c.1218C>A (p.Arg406=) c.1047C>A (p.Arg349=) | |
19 | g.13081771C>G | CA505651500 | NFIX | c.1044C>G (p.Arg348=) c.1075+3036C>G (n.1075+3036C>G) c.773+6100C>G c.1170C>G (p.Arg390=) c.1194C>G (p.Arg398=) c.1056C>G (p.Arg352=) c.*539C>G (n.*539C>G) c.1146C>G (p.Arg382=) c.*1001C>G (n.*1001C>G) c.1167C>G (p.Arg389=) c.1029C>G (p.Arg343=) c.1224C>G (p.Arg408=) c.1347C>G (p.Arg449=) c.1255+3036C>G (n.1255+3036C>G) c.1132+6100C>G (n.1132+6100C>G) c.1218C>G (p.Arg406=) c.1047C>G (p.Arg349=) | |
19 | g.13081771C>T | CA505651501 | NFIX | c.1044C>T (p.Arg348=) c.1075+3036C>T (n.1075+3036C>T) c.773+6100C>T c.1170C>T (p.Arg390=) c.1194C>T (p.Arg398=) c.1056C>T (p.Arg352=) c.*539C>T (n.*539C>T) c.1146C>T (p.Arg382=) c.*1001C>T (n.*1001C>T) c.1167C>T (p.Arg389=) c.1029C>T (p.Arg343=) c.1224C>T (p.Arg408=) c.1347C>T (p.Arg449=) c.1255+3036C>T (n.1255+3036C>T) c.1132+6100C>T (n.1132+6100C>T) c.1218C>T (p.Arg406=) c.1047C>T (p.Arg349=) | |
19 | g.13081772T>A | CA404304277 | NFIX | c.1045T>A (p.Tyr349Asn) c.1075+3037T>A (n.1075+3037T>A) c.773+6101T>A c.1171T>A (p.Tyr391Asn) c.1195T>A (p.Tyr399Asn) c.1057T>A (p.Tyr353Asn) c.*540T>A (n.*540T>A) c.1147T>A (p.Tyr383Asn) c.*1002T>A (n.*1002T>A) c.1168T>A (p.Tyr390Asn) c.1030T>A (p.Tyr344Asn) c.1225T>A (p.Tyr409Asn) c.1348T>A (p.Tyr450Asn) c.1255+3037T>A (n.1255+3037T>A) c.1132+6101T>A (n.1132+6101T>A) c.1219T>A (p.Tyr407Asn) c.1048T>A (p.Tyr350Asn) | |
19 | g.13081772T>C | CA404304271 | NFIX | c.1045T>C (p.Tyr349His) c.1075+3037T>C (n.1075+3037T>C) c.773+6101T>C c.1171T>C (p.Tyr391His) c.1195T>C (p.Tyr399His) c.1057T>C (p.Tyr353His) c.*540T>C (n.*540T>C) c.1147T>C (p.Tyr383His) c.*1002T>C (n.*1002T>C) c.1168T>C (p.Tyr390His) c.1030T>C (p.Tyr344His) c.1225T>C (p.Tyr409His) c.1348T>C (p.Tyr450His) c.1255+3037T>C (n.1255+3037T>C) c.1132+6101T>C (n.1132+6101T>C) c.1219T>C (p.Tyr407His) c.1048T>C (p.Tyr350His) | |
19 | g.13081772T>G | CA404304274 | NFIX | c.1045T>G (p.Tyr349Asp) c.1075+3037T>G (n.1075+3037T>G) c.773+6101T>G c.1171T>G (p.Tyr391Asp) c.1195T>G (p.Tyr399Asp) c.1057T>G (p.Tyr353Asp) c.*540T>G (n.*540T>G) c.1147T>G (p.Tyr383Asp) c.*1002T>G (n.*1002T>G) c.1168T>G (p.Tyr390Asp) c.1030T>G (p.Tyr344Asp) c.1225T>G (p.Tyr409Asp) c.1348T>G (p.Tyr450Asp) c.1255+3037T>G (n.1255+3037T>G) c.1132+6101T>G (n.1132+6101T>G) c.1219T>G (p.Tyr407Asp) c.1048T>G (p.Tyr350Asp) | |
19 | g.13081772_13081778delinsTACCACC | CA2323714224 | NFIX | c.1045_1051delinsTACCACC (p.Tyr349=) c.1075+3037_1075+3043delinsTACCACC (n.1075+3037_1075+3043delinsTACCACC) c.773+6101_773+6107delinsTACCACC c.1171_1177delinsTACCACC (p.Tyr391=) c.1195_1201delinsTACCACC (p.Tyr399=) c.1057_1063delinsTACCACC (p.Tyr353=) c.*540_*546delinsTACCACC (n.*540_*546delinsTACCACC) c.1147_1153delinsTACCACC (p.Tyr383=) c.*1002_*1008delinsTACCACC (n.*1002_*1008delinsTACCACC) c.1168_1174delinsTACCACC (p.Tyr390=) c.1030_1036delinsTACCACC (p.Tyr344=) c.1225_1231delinsTACCACC (p.Tyr409=) c.1348_1354delinsTACCACC (p.Tyr450=) c.1255+3037_1255+3043delinsTACCACC (n.1255+3037_1255+3043delinsTACCACC) c.1132+6101_1132+6107delinsTACCACC (n.1132+6101_1132+6107delinsTACCACC) c.1219_1225delinsTACCACC (p.Tyr407=) c.1048_1054delinsTACCACC (p.Tyr350=) | |
19 | g.13081773A>C | CA404304279 | NFIX | c.1046A>C (p.Tyr349Ser) c.1075+3038A>C (n.1075+3038A>C) c.773+6102A>C c.1172A>C (p.Tyr391Ser) c.1196A>C (p.Tyr399Ser) c.1058A>C (p.Tyr353Ser) c.*541A>C (n.*541A>C) c.1148A>C (p.Tyr383Ser) c.*1003A>C (n.*1003A>C) c.1169A>C (p.Tyr390Ser) c.1031A>C (p.Tyr344Ser) c.1226A>C (p.Tyr409Ser) c.1349A>C (p.Tyr450Ser) c.1255+3038A>C (n.1255+3038A>C) c.1132+6102A>C (n.1132+6102A>C) c.1220A>C (p.Tyr407Ser) c.1049A>C (p.Tyr350Ser) | |
19 | g.13081773A>G | CA404304280 | NFIX | c.1046A>G (p.Tyr349Cys) c.1075+3038A>G (n.1075+3038A>G) c.773+6102A>G c.1172A>G (p.Tyr391Cys) c.1196A>G (p.Tyr399Cys) c.1058A>G (p.Tyr353Cys) c.*541A>G (n.*541A>G) c.1148A>G (p.Tyr383Cys) c.*1003A>G (n.*1003A>G) c.1169A>G (p.Tyr390Cys) c.1031A>G (p.Tyr344Cys) c.1226A>G (p.Tyr409Cys) c.1349A>G (p.Tyr450Cys) c.1255+3038A>G (n.1255+3038A>G) c.1132+6102A>G (n.1132+6102A>G) c.1220A>G (p.Tyr407Cys) c.1049A>G (p.Tyr350Cys) | |
19 | g.13081773A>T | CA404304282 | NFIX | c.1046A>T (p.Tyr349Phe) c.1075+3038A>T (n.1075+3038A>T) c.773+6102A>T c.1172A>T (p.Tyr391Phe) c.1196A>T (p.Tyr399Phe) c.1058A>T (p.Tyr353Phe) c.*541A>T (n.*541A>T) c.1148A>T (p.Tyr383Phe) c.*1003A>T (n.*1003A>T) c.1169A>T (p.Tyr390Phe) c.1031A>T (p.Tyr344Phe) c.1226A>T (p.Tyr409Phe) c.1349A>T (p.Tyr450Phe) c.1255+3038A>T (n.1255+3038A>T) c.1132+6102A>T (n.1132+6102A>T) c.1220A>T (p.Tyr407Phe) c.1049A>T (p.Tyr350Phe) | |
19 | g.13081784_13081786dup | CA9237151 | NFIX | c.1057_1059dup (p.His353_Gly354insHis) c.1075+3049_1075+3051dup (n.1075+3049_1075+3051dup) c.773+6113_773+6115dup c.1183_1185dup (p.His395_Gly396insHis) c.1207_1209dup (p.His403_Gly404insHis) c.1069_1071dup (p.His357_Gly358insHis) c.*552_*554dup (n.*552_*554dup) c.1159_1161dup (p.His387_Gly388insHis) c.*1014_*1016dup (n.*1014_*1016dup) c.1180_1182dup (p.His394_Gly395insHis) c.1042_1044dup (p.His348_Gly349insHis) c.1237_1239dup (p.His413_Gly414insHis) c.1360_1362dup (p.His454_Gly455insHis) c.1255+3049_1255+3051dup (n.1255+3049_1255+3051dup) c.1132+6113_1132+6115dup (n.1132+6113_1132+6115dup) c.1231_1233dup (p.His411_Gly412insHis) c.1060_1062dup (p.His354_Gly355insHis) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081784_13081786del | CA9237150 | NFIX | c.1057_1059del (p.His353del) c.1075+3049_1075+3051del (n.1075+3049_1075+3051del) c.773+6113_773+6115del c.1183_1185del (p.His395del) c.1207_1209del (p.His403del) c.1069_1071del (p.His357del) c.*552_*554del (n.*552_*554del) c.1159_1161del (p.His387del) c.*1014_*1016del (n.*1014_*1016del) c.1180_1182del (p.His394del) c.1042_1044del (p.His348del) c.1237_1239del (p.His413del) c.1360_1362del (p.His454del) c.1255+3049_1255+3051del (n.1255+3049_1255+3051del) c.1132+6113_1132+6115del (n.1132+6113_1132+6115del) c.1231_1233del (p.His411del) c.1060_1062del (p.His354del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13081781_13081786del | CA305560723 | NFIX | c.1054_1059del (p.His352_His353del) c.1075+3046_1075+3051del (n.1075+3046_1075+3051del) c.773+6110_773+6115del c.1180_1185del (p.His394_His395del) c.1204_1209del (p.His402_His403del) c.1066_1071del (p.His356_His357del) c.*549_*554del (n.*549_*554del) c.1156_1161del (p.His386_His387del) c.*1011_*1016del (n.*1011_*1016del) c.1177_1182del (p.His393_His394del) c.1039_1044del (p.His347_His348del) c.1234_1239del (p.His412_His413del) c.1357_1362del (p.His453_His454del) c.1255+3046_1255+3051del (n.1255+3046_1255+3051del) c.1132+6110_1132+6115del (n.1132+6110_1132+6115del) c.1228_1233del (p.His410_His411del) c.1057_1062del (p.His353_His354del) | dbSNP |
19 | g.13081774C>A | CA404304285 | NFIX | c.1047C>A (p.Tyr349Ter) c.1075+3039C>A (n.1075+3039C>A) c.773+6103C>A c.1173C>A (p.Tyr391Ter) c.1197C>A (p.Tyr399Ter) c.1059C>A (p.Tyr353Ter) c.*542C>A (n.*542C>A) c.1149C>A (p.Tyr383Ter) c.*1004C>A (n.*1004C>A) c.1170C>A (p.Tyr390Ter) c.1032C>A (p.Tyr344Ter) c.1227C>A (p.Tyr409Ter) c.1350C>A (p.Tyr450Ter) c.1255+3039C>A (n.1255+3039C>A) c.1132+6103C>A (n.1132+6103C>A) c.1221C>A (p.Tyr407Ter) c.1050C>A (p.Tyr350Ter) | |
19 | g.13081774C>G | CA404304287 | NFIX | c.1047C>G (p.Tyr349Ter) c.1075+3039C>G (n.1075+3039C>G) c.773+6103C>G c.1173C>G (p.Tyr391Ter) c.1197C>G (p.Tyr399Ter) c.1059C>G (p.Tyr353Ter) c.*542C>G (n.*542C>G) c.1149C>G (p.Tyr383Ter) c.*1004C>G (n.*1004C>G) c.1170C>G (p.Tyr390Ter) c.1032C>G (p.Tyr344Ter) c.1227C>G (p.Tyr409Ter) c.1350C>G (p.Tyr450Ter) c.1255+3039C>G (n.1255+3039C>G) c.1132+6103C>G (n.1132+6103C>G) c.1221C>G (p.Tyr407Ter) c.1050C>G (p.Tyr350Ter) | |
19 | g.13081774C>T | CA505651503 | NFIX | c.1047C>T (p.Tyr349=) c.1075+3039C>T (n.1075+3039C>T) c.773+6103C>T c.1173C>T (p.Tyr391=) c.1197C>T (p.Tyr399=) c.1059C>T (p.Tyr353=) c.*542C>T (n.*542C>T) c.1149C>T (p.Tyr383=) c.*1004C>T (n.*1004C>T) c.1170C>T (p.Tyr390=) c.1032C>T (p.Tyr344=) c.1227C>T (p.Tyr409=) c.1350C>T (p.Tyr450=) c.1255+3039C>T (n.1255+3039C>T) c.1132+6103C>T (n.1132+6103C>T) c.1221C>T (p.Tyr407=) c.1050C>T (p.Tyr350=) | |
19 | g.13081775C>A | CA404304292 | NFIX | c.1048C>A (p.His350Asn) c.1075+3040C>A (n.1075+3040C>A) c.773+6104C>A c.1174C>A (p.His392Asn) c.1198C>A (p.His400Asn) c.1060C>A (p.His354Asn) c.*543C>A (n.*543C>A) c.1150C>A (p.His384Asn) c.*1005C>A (n.*1005C>A) c.1171C>A (p.His391Asn) c.1033C>A (p.His345Asn) c.1228C>A (p.His410Asn) c.1351C>A (p.His451Asn) c.1255+3040C>A (n.1255+3040C>A) c.1132+6104C>A (n.1132+6104C>A) c.1222C>A (p.His408Asn) c.1051C>A (p.His351Asn) | |
19 | g.13081775C>G | CA404304300 | NFIX | c.1048C>G (p.His350Asp) c.1075+3040C>G (n.1075+3040C>G) c.773+6104C>G c.1174C>G (p.His392Asp) c.1198C>G (p.His400Asp) c.1060C>G (p.His354Asp) c.*543C>G (n.*543C>G) c.1150C>G (p.His384Asp) c.*1005C>G (n.*1005C>G) c.1171C>G (p.His391Asp) c.1033C>G (p.His345Asp) c.1228C>G (p.His410Asp) c.1351C>G (p.His451Asp) c.1255+3040C>G (n.1255+3040C>G) c.1132+6104C>G (n.1132+6104C>G) c.1222C>G (p.His408Asp) c.1051C>G (p.His351Asp) | |
19 | g.13081775C>T | CA404304303 | NFIX | c.1048C>T (p.His350Tyr) c.1075+3040C>T (n.1075+3040C>T) c.773+6104C>T c.1174C>T (p.His392Tyr) c.1198C>T (p.His400Tyr) c.1060C>T (p.His354Tyr) c.*543C>T (n.*543C>T) c.1150C>T (p.His384Tyr) c.*1005C>T (n.*1005C>T) c.1171C>T (p.His391Tyr) c.1033C>T (p.His345Tyr) c.1228C>T (p.His410Tyr) c.1351C>T (p.His451Tyr) c.1255+3040C>T (n.1255+3040C>T) c.1132+6104C>T (n.1132+6104C>T) c.1222C>T (p.His408Tyr) c.1051C>T (p.His351Tyr) | |
19 | g.13081776A>C | CA404304310 | NFIX | c.1049A>C (p.His350Pro) c.1075+3041A>C (n.1075+3041A>C) c.773+6105A>C c.1175A>C (p.His392Pro) c.1199A>C (p.His400Pro) c.1061A>C (p.His354Pro) c.*544A>C (n.*544A>C) c.1151A>C (p.His384Pro) c.*1006A>C (n.*1006A>C) c.1172A>C (p.His391Pro) c.1034A>C (p.His345Pro) c.1229A>C (p.His410Pro) c.1352A>C (p.His451Pro) c.1255+3041A>C (n.1255+3041A>C) c.1132+6105A>C (n.1132+6105A>C) c.1223A>C (p.His408Pro) c.1052A>C (p.His351Pro) | |
19 | g.13081776A>G | CA404304311 | NFIX | c.1049A>G (p.His350Arg) c.1075+3041A>G (n.1075+3041A>G) c.773+6105A>G c.1175A>G (p.His392Arg) c.1199A>G (p.His400Arg) c.1061A>G (p.His354Arg) c.*544A>G (n.*544A>G) c.1151A>G (p.His384Arg) c.*1006A>G (n.*1006A>G) c.1172A>G (p.His391Arg) c.1034A>G (p.His345Arg) c.1229A>G (p.His410Arg) c.1352A>G (p.His451Arg) c.1255+3041A>G (n.1255+3041A>G) c.1132+6105A>G (n.1132+6105A>G) c.1223A>G (p.His408Arg) c.1052A>G (p.His351Arg) | |
19 | g.13081776A>T | CA404304309 | NFIX | c.1049A>T (p.His350Leu) c.1075+3041A>T (n.1075+3041A>T) c.773+6105A>T c.1175A>T (p.His392Leu) c.1199A>T (p.His400Leu) c.1061A>T (p.His354Leu) c.*544A>T (n.*544A>T) c.1151A>T (p.His384Leu) c.*1006A>T (n.*1006A>T) c.1172A>T (p.His391Leu) c.1034A>T (p.His345Leu) c.1229A>T (p.His410Leu) c.1352A>T (p.His451Leu) c.1255+3041A>T (n.1255+3041A>T) c.1132+6105A>T (n.1132+6105A>T) c.1223A>T (p.His408Leu) c.1052A>T (p.His351Leu) | |
19 | g.13081777C>A | CA404304313 | NFIX | c.1050C>A (p.His350Gln) c.1075+3042C>A (n.1075+3042C>A) c.773+6106C>A c.1176C>A (p.His392Gln) c.1200C>A (p.His400Gln) c.1062C>A (p.His354Gln) c.*545C>A (n.*545C>A) c.1152C>A (p.His384Gln) c.*1007C>A (n.*1007C>A) c.1173C>A (p.His391Gln) c.1035C>A (p.His345Gln) c.1230C>A (p.His410Gln) c.1353C>A (p.His451Gln) c.1255+3042C>A (n.1255+3042C>A) c.1132+6106C>A (n.1132+6106C>A) c.1224C>A (p.His408Gln) c.1053C>A (p.His351Gln) | |
19 | g.13081777C>G | CA404304317 | NFIX | c.1050C>G (p.His350Gln) c.1075+3042C>G (n.1075+3042C>G) c.773+6106C>G c.1176C>G (p.His392Gln) c.1200C>G (p.His400Gln) c.1062C>G (p.His354Gln) c.*545C>G (n.*545C>G) c.1152C>G (p.His384Gln) c.*1007C>G (n.*1007C>G) c.1173C>G (p.His391Gln) c.1035C>G (p.His345Gln) c.1230C>G (p.His410Gln) c.1353C>G (p.His451Gln) c.1255+3042C>G (n.1255+3042C>G) c.1132+6106C>G (n.1132+6106C>G) c.1224C>G (p.His408Gln) c.1053C>G (p.His351Gln) | |
19 | g.13081777C>T | CA505651504 | NFIX | c.1050C>T (p.His350=) c.1075+3042C>T (n.1075+3042C>T) c.773+6106C>T c.1176C>T (p.His392=) c.1200C>T (p.His400=) c.1062C>T (p.His354=) c.*545C>T (n.*545C>T) c.1152C>T (p.His384=) c.*1007C>T (n.*1007C>T) c.1173C>T (p.His391=) c.1035C>T (p.His345=) c.1230C>T (p.His410=) c.1353C>T (p.His451=) c.1255+3042C>T (n.1255+3042C>T) c.1132+6106C>T (n.1132+6106C>T) c.1224C>T (p.His408=) c.1053C>T (p.His351=) | gnomAD v4 |
19 | g.13081778C>A | CA404304322 | NFIX | c.1051C>A (p.His351Asn) c.1075+3043C>A (n.1075+3043C>A) c.773+6107C>A c.1177C>A (p.His393Asn) c.1201C>A (p.His401Asn) c.1063C>A (p.His355Asn) c.*546C>A (n.*546C>A) c.1153C>A (p.His385Asn) c.*1008C>A (n.*1008C>A) c.1174C>A (p.His392Asn) c.1036C>A (p.His346Asn) c.1231C>A (p.His411Asn) c.1354C>A (p.His452Asn) c.1255+3043C>A (n.1255+3043C>A) c.1132+6107C>A (n.1132+6107C>A) c.1225C>A (p.His409Asn) c.1054C>A (p.His352Asn) | |
19 | g.13081778C>G | CA404304326 | NFIX | c.1051C>G (p.His351Asp) c.1075+3043C>G (n.1075+3043C>G) c.773+6107C>G c.1177C>G (p.His393Asp) c.1201C>G (p.His401Asp) c.1063C>G (p.His355Asp) c.*546C>G (n.*546C>G) c.1153C>G (p.His385Asp) c.*1008C>G (n.*1008C>G) c.1174C>G (p.His392Asp) c.1036C>G (p.His346Asp) c.1231C>G (p.His411Asp) c.1354C>G (p.His452Asp) c.1255+3043C>G (n.1255+3043C>G) c.1132+6107C>G (n.1132+6107C>G) c.1225C>G (p.His409Asp) c.1054C>G (p.His352Asp) | |
19 | g.13081778C>T | CA404304328 | NFIX | c.1051C>T (p.His351Tyr) c.1075+3043C>T (n.1075+3043C>T) c.773+6107C>T c.1177C>T (p.His393Tyr) c.1201C>T (p.His401Tyr) c.1063C>T (p.His355Tyr) c.*546C>T (n.*546C>T) c.1153C>T (p.His385Tyr) c.*1008C>T (n.*1008C>T) c.1174C>T (p.His392Tyr) c.1036C>T (p.His346Tyr) c.1231C>T (p.His411Tyr) c.1354C>T (p.His452Tyr) c.1255+3043C>T (n.1255+3043C>T) c.1132+6107C>T (n.1132+6107C>T) c.1225C>T (p.His409Tyr) c.1054C>T (p.His352Tyr) | |
19 | g.13081779A>C | CA404304339 | NFIX | c.1052A>C (p.His351Pro) c.1075+3044A>C (n.1075+3044A>C) c.773+6108A>C c.1178A>C (p.His393Pro) c.1202A>C (p.His401Pro) c.1064A>C (p.His355Pro) c.*547A>C (n.*547A>C) c.1154A>C (p.His385Pro) c.*1009A>C (n.*1009A>C) c.1175A>C (p.His392Pro) c.1037A>C (p.His346Pro) c.1232A>C (p.His411Pro) c.1355A>C (p.His452Pro) c.1255+3044A>C (n.1255+3044A>C) c.1132+6108A>C (n.1132+6108A>C) c.1226A>C (p.His409Pro) c.1055A>C (p.His352Pro) | |
19 | g.13081779A>G | CA404304333 | NFIX | c.1052A>G (p.His351Arg) c.1075+3044A>G (n.1075+3044A>G) c.773+6108A>G c.1178A>G (p.His393Arg) c.1202A>G (p.His401Arg) c.1064A>G (p.His355Arg) c.*547A>G (n.*547A>G) c.1154A>G (p.His385Arg) c.*1009A>G (n.*1009A>G) c.1175A>G (p.His392Arg) c.1037A>G (p.His346Arg) c.1232A>G (p.His411Arg) c.1355A>G (p.His452Arg) c.1255+3044A>G (n.1255+3044A>G) c.1132+6108A>G (n.1132+6108A>G) c.1226A>G (p.His409Arg) c.1055A>G (p.His352Arg) | |
19 | g.13081779A>T | CA404304336 | NFIX | c.1052A>T (p.His351Leu) c.1075+3044A>T (n.1075+3044A>T) c.773+6108A>T c.1178A>T (p.His393Leu) c.1202A>T (p.His401Leu) c.1064A>T (p.His355Leu) c.*547A>T (n.*547A>T) c.1154A>T (p.His385Leu) c.*1009A>T (n.*1009A>T) c.1175A>T (p.His392Leu) c.1037A>T (p.His346Leu) c.1232A>T (p.His411Leu) c.1355A>T (p.His452Leu) c.1255+3044A>T (n.1255+3044A>T) c.1132+6108A>T (n.1132+6108A>T) c.1226A>T (p.His409Leu) c.1055A>T (p.His352Leu) | |
19 | g.13081779_13081780delinsAC | CA2323714225 | NFIX | c.1052_1053delinsAC (p.His351=) c.1075+3044_1075+3045delinsAC (n.1075+3044_1075+3045delinsAC) c.773+6108_773+6109delinsAC c.1178_1179delinsAC (p.His393=) c.1202_1203delinsAC (p.His401=) c.1064_1065delinsAC (p.His355=) c.*547_*548delinsAC (n.*547_*548delinsAC) c.1154_1155delinsAC (p.His385=) c.*1009_*1010delinsAC (n.*1009_*1010delinsAC) c.1175_1176delinsAC (p.His392=) c.1037_1038delinsAC (p.His346=) c.1232_1233delinsAC (p.His411=) c.1355_1356delinsAC (p.His452=) c.1255+3044_1255+3045delinsAC (n.1255+3044_1255+3045delinsAC) c.1132+6108_1132+6109delinsAC (n.1132+6108_1132+6109delinsAC) c.1226_1227delinsAC (p.His409=) c.1055_1056delinsAC (p.His352=) | |
19 | g.13081780C>A | CA404304342 | NFIX | c.1053C>A (p.His351Gln) c.1075+3045C>A (n.1075+3045C>A) c.773+6109C>A c.1179C>A (p.His393Gln) c.1203C>A (p.His401Gln) c.1065C>A (p.His355Gln) c.*548C>A (n.*548C>A) c.1155C>A (p.His385Gln) c.*1010C>A (n.*1010C>A) c.1176C>A (p.His392Gln) c.1038C>A (p.His346Gln) c.1233C>A (p.His411Gln) c.1356C>A (p.His452Gln) c.1255+3045C>A (n.1255+3045C>A) c.1132+6109C>A (n.1132+6109C>A) c.1227C>A (p.His409Gln) c.1056C>A (p.His352Gln) | |
19 | g.13081780C= | CA2323714226 | NFIX | c.1053C= (p.His351=) c.1075+3045C= (n.1075+3045C=) c.773+6109C= c.1179C= (p.His393=) c.1203C= (p.His401=) c.1065C= (p.His355=) c.*548C= (n.*548C=) c.1155C= (p.His385=) c.*1010C= (n.*1010C=) c.1176C= (p.His392=) c.1038C= (p.His346=) c.1233C= (p.His411=) c.1356C= (p.His452=) c.1255+3045C= (n.1255+3045C=) c.1132+6109C= (n.1132+6109C=) c.1227C= (p.His409=) c.1056C= (p.His352=) | |
19 | g.13081780C>G | CA404304344 | NFIX | c.1053C>G (p.His351Gln) c.1075+3045C>G (n.1075+3045C>G) c.773+6109C>G c.1179C>G (p.His393Gln) c.1203C>G (p.His401Gln) c.1065C>G (p.His355Gln) c.*548C>G (n.*548C>G) c.1155C>G (p.His385Gln) c.*1010C>G (n.*1010C>G) c.1176C>G (p.His392Gln) c.1038C>G (p.His346Gln) c.1233C>G (p.His411Gln) c.1356C>G (p.His452Gln) c.1255+3045C>G (n.1255+3045C>G) c.1132+6109C>G (n.1132+6109C>G) c.1227C>G (p.His409Gln) c.1056C>G (p.His352Gln) | |
19 | g.13081780C>T | CA505651507 | NFIX | c.1053C>T (p.His351=) c.1075+3045C>T (n.1075+3045C>T) c.773+6109C>T c.1179C>T (p.His393=) c.1203C>T (p.His401=) c.1065C>T (p.His355=) c.*548C>T (n.*548C>T) c.1155C>T (p.His385=) c.*1010C>T (n.*1010C>T) c.1176C>T (p.His392=) c.1038C>T (p.His346=) c.1233C>T (p.His411=) c.1356C>T (p.His452=) c.1255+3045C>T (n.1255+3045C>T) c.1132+6109C>T (n.1132+6109C>T) c.1227C>T (p.His409=) c.1056C>T (p.His352=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13081781del | CA658799164 | NFIX | c.1054del (p.His352ThrfsTer7) c.1075+3046del (n.1075+3046del) c.773+6110del c.1180del (p.His394ThrfsTer7) c.1204del (p.His402ThrfsTer7) c.1066del (p.His356ThrfsTer7) c.*549del (n.*549del) c.1156del (p.His386ThrfsTer7) c.*1011del (n.*1011del) c.1177del (p.His393ThrfsTer7) c.1039del (p.His347ThrfsTer7) c.1234del (p.His412ThrfsTer7) c.1357del (p.His453ThrfsTer7) c.1255+3046del (n.1255+3046del) c.1132+6110del (n.1132+6110del) c.1228del (p.His410ThrfsTer7) c.1057del (p.His353ThrfsTer7) | ClinVar dbSNP |
19 | g.13081781C>A | CA404304348 | NFIX | c.1054C>A (p.His352Asn) c.1075+3046C>A (n.1075+3046C>A) c.773+6110C>A c.1180C>A (p.His394Asn) c.1204C>A (p.His402Asn) c.1066C>A (p.His356Asn) c.*549C>A (n.*549C>A) c.1156C>A (p.His386Asn) c.*1011C>A (n.*1011C>A) c.1177C>A (p.His393Asn) c.1039C>A (p.His347Asn) c.1234C>A (p.His412Asn) c.1357C>A (p.His453Asn) c.1255+3046C>A (n.1255+3046C>A) c.1132+6110C>A (n.1132+6110C>A) c.1228C>A (p.His410Asn) c.1057C>A (p.His353Asn) | |
19 | g.13081781C>G | CA404304349 | NFIX | c.1054C>G (p.His352Asp) c.1075+3046C>G (n.1075+3046C>G) c.773+6110C>G c.1180C>G (p.His394Asp) c.1204C>G (p.His402Asp) c.1066C>G (p.His356Asp) c.*549C>G (n.*549C>G) c.1156C>G (p.His386Asp) c.*1011C>G (n.*1011C>G) c.1177C>G (p.His393Asp) c.1039C>G (p.His347Asp) c.1234C>G (p.His412Asp) c.1357C>G (p.His453Asp) c.1255+3046C>G (n.1255+3046C>G) c.1132+6110C>G (n.1132+6110C>G) c.1228C>G (p.His410Asp) c.1057C>G (p.His353Asp) | |
19 | g.13081781C>T | CA404304351 | NFIX | c.1054C>T (p.His352Tyr) c.1075+3046C>T (n.1075+3046C>T) c.773+6110C>T c.1180C>T (p.His394Tyr) c.1204C>T (p.His402Tyr) c.1066C>T (p.His356Tyr) c.*549C>T (n.*549C>T) c.1156C>T (p.His386Tyr) c.*1011C>T (n.*1011C>T) c.1177C>T (p.His393Tyr) c.1039C>T (p.His347Tyr) c.1234C>T (p.His412Tyr) c.1357C>T (p.His453Tyr) c.1255+3046C>T (n.1255+3046C>T) c.1132+6110C>T (n.1132+6110C>T) c.1228C>T (p.His410Tyr) c.1057C>T (p.His353Tyr) | |
19 | g.13081782A= | CA2323714227 | NFIX | c.1055A= (p.His352=) c.1075+3047A= (n.1075+3047A=) c.773+6111A= c.1181A= (p.His394=) c.1205A= (p.His402=) c.1067A= (p.His356=) c.*550A= (n.*550A=) c.1157A= (p.His386=) c.*1012A= (n.*1012A=) c.1178A= (p.His393=) c.1040A= (p.His347=) c.1235A= (p.His412=) c.1358A= (p.His453=) c.1255+3047A= (n.1255+3047A=) c.1132+6111A= (n.1132+6111A=) c.1229A= (p.His410=) c.1058A= (p.His353=) | |
19 | g.13081782A>C | CA404304353 | NFIX | c.1055A>C (p.His352Pro) c.1075+3047A>C (n.1075+3047A>C) c.773+6111A>C c.1181A>C (p.His394Pro) c.1205A>C (p.His402Pro) c.1067A>C (p.His356Pro) c.*550A>C (n.*550A>C) c.1157A>C (p.His386Pro) c.*1012A>C (n.*1012A>C) c.1178A>C (p.His393Pro) c.1040A>C (p.His347Pro) c.1235A>C (p.His412Pro) c.1358A>C (p.His453Pro) c.1255+3047A>C (n.1255+3047A>C) c.1132+6111A>C (n.1132+6111A>C) c.1229A>C (p.His410Pro) c.1058A>C (p.His353Pro) | |
19 | g.13081782A>G | CA404304356 | NFIX | c.1055A>G (p.His352Arg) c.1075+3047A>G (n.1075+3047A>G) c.773+6111A>G c.1181A>G (p.His394Arg) c.1205A>G (p.His402Arg) c.1067A>G (p.His356Arg) c.*550A>G (n.*550A>G) c.1157A>G (p.His386Arg) c.*1012A>G (n.*1012A>G) c.1178A>G (p.His393Arg) c.1040A>G (p.His347Arg) c.1235A>G (p.His412Arg) c.1358A>G (p.His453Arg) c.1255+3047A>G (n.1255+3047A>G) c.1132+6111A>G (n.1132+6111A>G) c.1229A>G (p.His410Arg) c.1058A>G (p.His353Arg) | dbSNP |
19 | g.13081782A>T | CA404304354 | NFIX | c.1055A>T (p.His352Leu) c.1075+3047A>T (n.1075+3047A>T) c.773+6111A>T c.1181A>T (p.His394Leu) c.1205A>T (p.His402Leu) c.1067A>T (p.His356Leu) c.*550A>T (n.*550A>T) c.1157A>T (p.His386Leu) c.*1012A>T (n.*1012A>T) c.1178A>T (p.His393Leu) c.1040A>T (p.His347Leu) c.1235A>T (p.His412Leu) c.1358A>T (p.His453Leu) c.1255+3047A>T (n.1255+3047A>T) c.1132+6111A>T (n.1132+6111A>T) c.1229A>T (p.His410Leu) c.1058A>T (p.His353Leu) | |
19 | g.13081783C>A | CA404304358 | NFIX | c.1056C>A (p.His352Gln) c.1075+3048C>A (n.1075+3048C>A) c.773+6112C>A c.1182C>A (p.His394Gln) c.1206C>A (p.His402Gln) c.1068C>A (p.His356Gln) c.*551C>A (n.*551C>A) c.1158C>A (p.His386Gln) c.*1013C>A (n.*1013C>A) c.1179C>A (p.His393Gln) c.1041C>A (p.His347Gln) c.1236C>A (p.His412Gln) c.1359C>A (p.His453Gln) c.1255+3048C>A (n.1255+3048C>A) c.1132+6112C>A (n.1132+6112C>A) c.1230C>A (p.His410Gln) c.1059C>A (p.His353Gln) | |
19 | g.13081783C= | CA2323714228 | NFIX | c.1056C= (p.His352=) c.1075+3048C= (n.1075+3048C=) c.773+6112C= c.1182C= (p.His394=) c.1206C= (p.His402=) c.1068C= (p.His356=) c.*551C= (n.*551C=) c.1158C= (p.His386=) c.*1013C= (n.*1013C=) c.1179C= (p.His393=) c.1041C= (p.His347=) c.1236C= (p.His412=) c.1359C= (p.His453=) c.1255+3048C= (n.1255+3048C=) c.1132+6112C= (n.1132+6112C=) c.1230C= (p.His410=) c.1059C= (p.His353=) | |
19 | g.13081783C>G | CA404304366 | NFIX | c.1056C>G (p.His352Gln) c.1075+3048C>G (n.1075+3048C>G) c.773+6112C>G c.1182C>G (p.His394Gln) c.1206C>G (p.His402Gln) c.1068C>G (p.His356Gln) c.*551C>G (n.*551C>G) c.1158C>G (p.His386Gln) c.*1013C>G (n.*1013C>G) c.1179C>G (p.His393Gln) c.1041C>G (p.His347Gln) c.1236C>G (p.His412Gln) c.1359C>G (p.His453Gln) c.1255+3048C>G (n.1255+3048C>G) c.1132+6112C>G (n.1132+6112C>G) c.1230C>G (p.His410Gln) c.1059C>G (p.His353Gln) | |
19 | g.13081783C>T | CA505651508 | NFIX | c.1056C>T (p.His352=) c.1075+3048C>T (n.1075+3048C>T) c.773+6112C>T c.1182C>T (p.His394=) c.1206C>T (p.His402=) c.1068C>T (p.His356=) c.*551C>T (n.*551C>T) c.1158C>T (p.His386=) c.*1013C>T (n.*1013C>T) c.1179C>T (p.His393=) c.1041C>T (p.His347=) c.1236C>T (p.His412=) c.1359C>T (p.His453=) c.1255+3048C>T (n.1255+3048C>T) c.1132+6112C>T (n.1132+6112C>T) c.1230C>T (p.His410=) c.1059C>T (p.His353=) | dbSNP |
19 | g.13081784del | CA2573054720 | NFIX | c.1057del (p.His353ThrfsTer6) c.1075+3049del (n.1075+3049del) c.773+6113del c.1183del (p.His395ThrfsTer6) c.1207del (p.His403ThrfsTer6) c.1069del (p.His357ThrfsTer6) c.*552del (n.*552del) c.1159del (p.His387ThrfsTer6) c.*1014del (n.*1014del) c.1180del (p.His394ThrfsTer6) c.1042del (p.His348ThrfsTer6) c.1237del (p.His413ThrfsTer6) c.1360del (p.His454ThrfsTer6) c.1255+3049del (n.1255+3049del) c.1132+6113del (n.1132+6113del) c.1231del (p.His411ThrfsTer6) c.1060del (p.His354ThrfsTer6) | ClinVar dbSNP |
19 | g.13081784C>A | CA404304368 | NFIX | c.1057C>A (p.His353Asn) c.1075+3049C>A (n.1075+3049C>A) c.773+6113C>A c.1183C>A (p.His395Asn) c.1207C>A (p.His403Asn) c.1069C>A (p.His357Asn) c.*552C>A (n.*552C>A) c.1159C>A (p.His387Asn) c.*1014C>A (n.*1014C>A) c.1180C>A (p.His394Asn) c.1042C>A (p.His348Asn) c.1237C>A (p.His413Asn) c.1360C>A (p.His454Asn) c.1255+3049C>A (n.1255+3049C>A) c.1132+6113C>A (n.1132+6113C>A) c.1231C>A (p.His411Asn) c.1060C>A (p.His354Asn) | |
19 | g.13081784C>G | CA404304370 | NFIX | c.1057C>G (p.His353Asp) c.1075+3049C>G (n.1075+3049C>G) c.773+6113C>G c.1183C>G (p.His395Asp) c.1207C>G (p.His403Asp) c.1069C>G (p.His357Asp) c.*552C>G (n.*552C>G) c.1159C>G (p.His387Asp) c.*1014C>G (n.*1014C>G) c.1180C>G (p.His394Asp) c.1042C>G (p.His348Asp) c.1237C>G (p.His413Asp) c.1360C>G (p.His454Asp) c.1255+3049C>G (n.1255+3049C>G) c.1132+6113C>G (n.1132+6113C>G) c.1231C>G (p.His411Asp) c.1060C>G (p.His354Asp) | |
19 | g.13081784C>T | CA404304371 | NFIX | c.1057C>T (p.His353Tyr) c.1075+3049C>T (n.1075+3049C>T) c.773+6113C>T c.1183C>T (p.His395Tyr) c.1207C>T (p.His403Tyr) c.1069C>T (p.His357Tyr) c.*552C>T (n.*552C>T) c.1159C>T (p.His387Tyr) c.*1014C>T (n.*1014C>T) c.1180C>T (p.His394Tyr) c.1042C>T (p.His348Tyr) c.1237C>T (p.His413Tyr) c.1360C>T (p.His454Tyr) c.1255+3049C>T (n.1255+3049C>T) c.1132+6113C>T (n.1132+6113C>T) c.1231C>T (p.His411Tyr) c.1060C>T (p.His354Tyr) | |
19 | g.13081785A>C | CA404304375 | NFIX | c.1058A>C (p.His353Pro) c.1075+3050A>C (n.1075+3050A>C) c.773+6114A>C c.1184A>C (p.His395Pro) c.1208A>C (p.His403Pro) c.1070A>C (p.His357Pro) c.*553A>C (n.*553A>C) c.1160A>C (p.His387Pro) c.*1015A>C (n.*1015A>C) c.1181A>C (p.His394Pro) c.1043A>C (p.His348Pro) c.1238A>C (p.His413Pro) c.1361A>C (p.His454Pro) c.1255+3050A>C (n.1255+3050A>C) c.1132+6114A>C (n.1132+6114A>C) c.1232A>C (p.His411Pro) c.1061A>C (p.His354Pro) | |
19 | g.13081785A>G | CA404304376 | NFIX | c.1058A>G (p.His353Arg) c.1075+3050A>G (n.1075+3050A>G) c.773+6114A>G c.1184A>G (p.His395Arg) c.1208A>G (p.His403Arg) c.1070A>G (p.His357Arg) c.*553A>G (n.*553A>G) c.1160A>G (p.His387Arg) c.*1015A>G (n.*1015A>G) c.1181A>G (p.His394Arg) c.1043A>G (p.His348Arg) c.1238A>G (p.His413Arg) c.1361A>G (p.His454Arg) c.1255+3050A>G (n.1255+3050A>G) c.1132+6114A>G (n.1132+6114A>G) c.1232A>G (p.His411Arg) c.1061A>G (p.His354Arg) | |
19 | g.13081785A>T | CA404304379 | NFIX | c.1058A>T (p.His353Leu) c.1075+3050A>T (n.1075+3050A>T) c.773+6114A>T c.1184A>T (p.His395Leu) c.1208A>T (p.His403Leu) c.1070A>T (p.His357Leu) c.*553A>T (n.*553A>T) c.1160A>T (p.His387Leu) c.*1015A>T (n.*1015A>T) c.1181A>T (p.His394Leu) c.1043A>T (p.His348Leu) c.1238A>T (p.His413Leu) c.1361A>T (p.His454Leu) c.1255+3050A>T (n.1255+3050A>T) c.1132+6114A>T (n.1132+6114A>T) c.1232A>T (p.His411Leu) c.1061A>T (p.His354Leu) | |
19 | g.13081786C>A | CA404304383 | NFIX | c.1059C>A (p.His353Gln) c.1075+3051C>A (n.1075+3051C>A) c.773+6115C>A c.1185C>A (p.His395Gln) c.1209C>A (p.His403Gln) c.1071C>A (p.His357Gln) c.*554C>A (n.*554C>A) c.1161C>A (p.His387Gln) c.*1016C>A (n.*1016C>A) c.1182C>A (p.His394Gln) c.1044C>A (p.His348Gln) c.1239C>A (p.His413Gln) c.1362C>A (p.His454Gln) c.1255+3051C>A (n.1255+3051C>A) c.1132+6115C>A (n.1132+6115C>A) c.1233C>A (p.His411Gln) c.1062C>A (p.His354Gln) | |
19 | g.13081786C= | CA2323714229 | NFIX | c.1059C= (p.His353=) c.1075+3051C= (n.1075+3051C=) c.773+6115C= c.1185C= (p.His395=) c.1209C= (p.His403=) c.1071C= (p.His357=) c.*554C= (n.*554C=) c.1161C= (p.His387=) c.*1016C= (n.*1016C=) c.1182C= (p.His394=) c.1044C= (p.His348=) c.1239C= (p.His413=) c.1362C= (p.His454=) c.1255+3051C= (n.1255+3051C=) c.1132+6115C= (n.1132+6115C=) c.1233C= (p.His411=) c.1062C= (p.His354=) | |
19 | g.13081786C>G | CA404304385 | NFIX | c.1059C>G (p.His353Gln) c.1075+3051C>G (n.1075+3051C>G) c.773+6115C>G c.1185C>G (p.His395Gln) c.1209C>G (p.His403Gln) c.1071C>G (p.His357Gln) c.*554C>G (n.*554C>G) c.1161C>G (p.His387Gln) c.*1016C>G (n.*1016C>G) c.1182C>G (p.His394Gln) c.1044C>G (p.His348Gln) c.1239C>G (p.His413Gln) c.1362C>G (p.His454Gln) c.1255+3051C>G (n.1255+3051C>G) c.1132+6115C>G (n.1132+6115C>G) c.1233C>G (p.His411Gln) c.1062C>G (p.His354Gln) | |
19 | g.13081786C>T | CA9237152 | NFIX | c.1059C>T (p.His353=) c.1075+3051C>T (n.1075+3051C>T) c.773+6115C>T c.1185C>T (p.His395=) c.1209C>T (p.His403=) c.1071C>T (p.His357=) c.*554C>T (n.*554C>T) c.1161C>T (p.His387=) c.*1016C>T (n.*1016C>T) c.1182C>T (p.His394=) c.1044C>T (p.His348=) c.1239C>T (p.His413=) c.1362C>T (p.His454=) c.1255+3051C>T (n.1255+3051C>T) c.1132+6115C>T (n.1132+6115C>T) c.1233C>T (p.His411=) c.1062C>T (p.His354=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.13081786_13081787delinsCG | CA2323714230 | NFIX | c.1059_1060delinsCG (p.His353=) c.1075+3051_1075+3052delinsCG (n.1075+3051_1075+3052delinsCG) c.773+6115_773+6116delinsCG c.1185_1186delinsCG (p.His395=) c.1209_1210delinsCG (p.His403=) c.1071_1072delinsCG (p.His357=) c.*554_*555delinsCG (n.*554_*555delinsCG) c.1161_1162delinsCG (p.His387=) c.*1016_*1017delinsCG (n.*1016_*1017delinsCG) c.1182_1183delinsCG (p.His394=) c.1044_1045delinsCG (p.His348=) c.1239_1240delinsCG (p.His413=) c.1362_1363delinsCG (p.His454=) c.1255+3051_1255+3052delinsCG (n.1255+3051_1255+3052delinsCG) c.1132+6115_1132+6116delinsCG (n.1132+6115_1132+6116delinsCG) c.1233_1234delinsCG (p.His411=) c.1062_1063delinsCG (p.His354=) | |
19 | g.13081787G>A | CA404304396 | NFIX | c.1060G>A (p.Gly354Arg) c.1075+3052G>A (n.1075+3052G>A) c.773+6116G>A c.1186G>A (p.Gly396Arg) c.1210G>A (p.Gly404Arg) c.1072G>A (p.Gly358Arg) c.*555G>A (n.*555G>A) c.1162G>A (p.Gly388Arg) c.*1017G>A (n.*1017G>A) c.1183G>A (p.Gly395Arg) c.1045G>A (p.Gly349Arg) c.1240G>A (p.Gly414Arg) c.1363G>A (p.Gly455Arg) c.1255+3052G>A (n.1255+3052G>A) c.1132+6116G>A (n.1132+6116G>A) c.1234G>A (p.Gly412Arg) c.1063G>A (p.Gly355Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.13081787G>C | CA404304398 | NFIX | c.1060G>C (p.Gly354Arg) c.1075+3052G>C (n.1075+3052G>C) c.773+6116G>C c.1186G>C (p.Gly396Arg) c.1210G>C (p.Gly404Arg) c.1072G>C (p.Gly358Arg) c.*555G>C (n.*555G>C) c.1162G>C (p.Gly388Arg) c.*1017G>C (n.*1017G>C) c.1183G>C (p.Gly395Arg) c.1045G>C (p.Gly349Arg) c.1240G>C (p.Gly414Arg) c.1363G>C (p.Gly455Arg) c.1255+3052G>C (n.1255+3052G>C) c.1132+6116G>C (n.1132+6116G>C) c.1234G>C (p.Gly412Arg) c.1063G>C (p.Gly355Arg) | |
19 | g.13081787G= | CA2323714231 | NFIX | c.1060G= (p.Gly354=) c.1075+3052G= (n.1075+3052G=) c.773+6116G= c.1186G= (p.Gly396=) c.1210G= (p.Gly404=) c.1072G= (p.Gly358=) c.*555G= (n.*555G=) c.1162G= (p.Gly388=) c.*1017G= (n.*1017G=) c.1183G= (p.Gly395=) c.1045G= (p.Gly349=) c.1240G= (p.Gly414=) c.1363G= (p.Gly455=) c.1255+3052G= (n.1255+3052G=) c.1132+6116G= (n.1132+6116G=) c.1234G= (p.Gly412=) c.1063G= (p.Gly355=) | |
19 | g.13081787G>T | CA404304393 | NFIX | c.1060G>T (p.Gly354Trp) c.1075+3052G>T (n.1075+3052G>T) c.773+6116G>T c.1186G>T (p.Gly396Trp) c.1210G>T (p.Gly404Trp) c.1072G>T (p.Gly358Trp) c.*555G>T (n.*555G>T) c.1162G>T (p.Gly388Trp) c.*1017G>T (n.*1017G>T) c.1183G>T (p.Gly395Trp) c.1045G>T (p.Gly349Trp) c.1240G>T (p.Gly414Trp) c.1363G>T (p.Gly455Trp) c.1255+3052G>T (n.1255+3052G>T) c.1132+6116G>T (n.1132+6116G>T) c.1234G>T (p.Gly412Trp) c.1063G>T (p.Gly355Trp) | |
19 | g.13081789del | CA1139666309 | NFIX | c.1062del (p.Gln355ArgfsTer4) c.1075+3054del (n.1075+3054del) c.773+6118del c.1188del (p.Gln397ArgfsTer4) c.1212del (p.Gln405ArgfsTer4) c.1074del (p.Gln359ArgfsTer4) c.*557del (n.*557del) c.1164del (p.Gln389ArgfsTer4) c.*1019del (n.*1019del) c.1185del (p.Gln396ArgfsTer4) c.1047del (p.Gln350ArgfsTer4) c.1242del (p.Gln415ArgfsTer4) c.1365del (p.Gln456ArgfsTer4) c.1255+3054del (n.1255+3054del) c.1132+6118del (n.1132+6118del) c.1236del (p.Gln413ArgfsTer4) c.1065del (p.Gln356ArgfsTer4) | ClinVar dbSNP |
19 | g.13081788G>A | CA404304410 | NFIX | c.1061G>A (p.Gly354Glu) c.1075+3053G>A (n.1075+3053G>A) c.773+6117G>A c.1187G>A (p.Gly396Glu) c.1211G>A (p.Gly404Glu) c.1073G>A (p.Gly358Glu) c.*556G>A (n.*556G>A) c.1163G>A (p.Gly388Glu) c.*1018G>A (n.*1018G>A) c.1184G>A (p.Gly395Glu) c.1046G>A (p.Gly349Glu) c.1241G>A (p.Gly414Glu) c.1364G>A (p.Gly455Glu) c.1255+3053G>A (n.1255+3053G>A) c.1132+6117G>A (n.1132+6117G>A) c.1235G>A (p.Gly412Glu) c.1064G>A (p.Gly355Glu) | |
19 | g.13081788G>C | CA404304401 | NFIX | c.1061G>C (p.Gly354Ala) c.1075+3053G>C (n.1075+3053G>C) c.773+6117G>C c.1187G>C (p.Gly396Ala) c.1211G>C (p.Gly404Ala) c.1073G>C (p.Gly358Ala) c.*556G>C (n.*556G>C) c.1163G>C (p.Gly388Ala) c.*1018G>C (n.*1018G>C) c.1184G>C (p.Gly395Ala) c.1046G>C (p.Gly349Ala) c.1241G>C (p.Gly414Ala) c.1364G>C (p.Gly455Ala) c.1255+3053G>C (n.1255+3053G>C) c.1132+6117G>C (n.1132+6117G>C) c.1235G>C (p.Gly412Ala) c.1064G>C (p.Gly355Ala) | |
19 | g.13081788G>T | CA404304408 | NFIX | c.1061G>T (p.Gly354Val) c.1075+3053G>T (n.1075+3053G>T) c.773+6117G>T c.1187G>T (p.Gly396Val) c.1211G>T (p.Gly404Val) c.1073G>T (p.Gly358Val) c.*556G>T (n.*556G>T) c.1163G>T (p.Gly388Val) c.*1018G>T (n.*1018G>T) c.1184G>T (p.Gly395Val) c.1046G>T (p.Gly349Val) c.1241G>T (p.Gly414Val) c.1364G>T (p.Gly455Val) c.1255+3053G>T (n.1255+3053G>T) c.1132+6117G>T (n.1132+6117G>T) c.1235G>T (p.Gly412Val) c.1064G>T (p.Gly355Val) | |
19 | g.13081789G>A | CA505651512 | NFIX | c.1062G>A (p.Gly354=) c.1075+3054G>A (n.1075+3054G>A) c.773+6118G>A c.1188G>A (p.Gly396=) c.1212G>A (p.Gly404=) c.1074G>A (p.Gly358=) c.*557G>A (n.*557G>A) c.1164G>A (p.Gly388=) c.*1019G>A (n.*1019G>A) c.1185G>A (p.Gly395=) c.1047G>A (p.Gly349=) c.1242G>A (p.Gly414=) c.1365G>A (p.Gly455=) c.1255+3054G>A (n.1255+3054G>A) c.1132+6118G>A (n.1132+6118G>A) c.1236G>A (p.Gly412=) c.1065G>A (p.Gly355=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.13081789G>C | CA505651514 | NFIX | c.1062G>C (p.Gly354=) c.1075+3054G>C (n.1075+3054G>C) c.773+6118G>C c.1188G>C (p.Gly396=) c.1212G>C (p.Gly404=) c.1074G>C (p.Gly358=) c.*557G>C (n.*557G>C) c.1164G>C (p.Gly388=) c.*1019G>C (n.*1019G>C) c.1185G>C (p.Gly395=) c.1047G>C (p.Gly349=) c.1242G>C (p.Gly414=) c.1365G>C (p.Gly455=) c.1255+3054G>C (n.1255+3054G>C) c.1132+6118G>C (n.1132+6118G>C) c.1236G>C (p.Gly412=) c.1065G>C (p.Gly355=) | |
19 | g.13081789G= | CA2323714232 | NFIX | c.1062G= (p.Gly354=) c.1075+3054G= (n.1075+3054G=) c.773+6118G= c.1188G= (p.Gly396=) c.1212G= (p.Gly404=) c.1074G= (p.Gly358=) c.*557G= (n.*557G=) c.1164G= (p.Gly388=) c.*1019G= (n.*1019G=) c.1185G= (p.Gly395=) c.1047G= (p.Gly349=) c.1242G= (p.Gly414=) c.1365G= (p.Gly455=) c.1255+3054G= (n.1255+3054G=) c.1132+6118G= (n.1132+6118G=) c.1236G= (p.Gly412=) c.1065G= (p.Gly355=) | |
19 | g.13081789G>T | CA505651513 | NFIX | c.1062G>T (p.Gly354=) c.1075+3054G>T (n.1075+3054G>T) c.773+6118G>T c.1188G>T (p.Gly396=) c.1212G>T (p.Gly404=) c.1074G>T (p.Gly358=) c.*557G>T (n.*557G>T) c.1164G>T (p.Gly388=) c.*1019G>T (n.*1019G>T) c.1185G>T (p.Gly395=) c.1047G>T (p.Gly349=) c.1242G>T (p.Gly414=) c.1365G>T (p.Gly455=) c.1255+3054G>T (n.1255+3054G>T) c.1132+6118G>T (n.1132+6118G>T) c.1236G>T (p.Gly412=) c.1065G>T (p.Gly355=) | |
19 | g.13081790C>A | CA404304413 | NFIX | c.1063C>A (p.Gln355Lys) c.1075+3055C>A (n.1075+3055C>A) c.773+6119C>A c.1189C>A (p.Gln397Lys) c.1213C>A (p.Gln405Lys) c.1075C>A (p.Gln359Lys) c.*558C>A (n.*558C>A) c.1165C>A (p.Gln389Lys) c.*1020C>A (n.*1020C>A) c.1186C>A (p.Gln396Lys) c.1048C>A (p.Gln350Lys) c.1243C>A (p.Gln415Lys) c.1366C>A (p.Gln456Lys) c.1255+3055C>A (n.1255+3055C>A) c.1132+6119C>A (n.1132+6119C>A) c.1237C>A (p.Gln413Lys) c.1066C>A (p.Gln356Lys) | |
19 | g.13081790C>G | CA404304418 | NFIX | c.1063C>G (p.Gln355Glu) c.1075+3055C>G (n.1075+3055C>G) c.773+6119C>G c.1189C>G (p.Gln397Glu) c.1213C>G (p.Gln405Glu) c.1075C>G (p.Gln359Glu) c.*558C>G (n.*558C>G) c.1165C>G (p.Gln389Glu) c.*1020C>G (n.*1020C>G) c.1186C>G (p.Gln396Glu) c.1048C>G (p.Gln350Glu) c.1243C>G (p.Gln415Glu) c.1366C>G (p.Gln456Glu) c.1255+3055C>G (n.1255+3055C>G) c.1132+6119C>G (n.1132+6119C>G) c.1237C>G (p.Gln413Glu) c.1066C>G (p.Gln356Glu) | |
19 | g.13081790C>T | CA404304421 | NFIX | c.1063C>T (p.Gln355Ter) c.1075+3055C>T (n.1075+3055C>T) c.773+6119C>T c.1189C>T (p.Gln397Ter) c.1213C>T (p.Gln405Ter) c.1075C>T (p.Gln359Ter) c.*558C>T (n.*558C>T) c.1165C>T (p.Gln389Ter) c.*1020C>T (n.*1020C>T) c.1186C>T (p.Gln396Ter) c.1048C>T (p.Gln350Ter) c.1243C>T (p.Gln415Ter) c.1366C>T (p.Gln456Ter) c.1255+3055C>T (n.1255+3055C>T) c.1132+6119C>T (n.1132+6119C>T) c.1237C>T (p.Gln413Ter) c.1066C>T (p.Gln356Ter) | |
19 | g.13081791A>C | CA404304425 | NFIX | c.1064A>C (p.Gln355Pro) c.1075+3056A>C (n.1075+3056A>C) c.773+6120A>C c.1190A>C (p.Gln397Pro) c.1214A>C (p.Gln405Pro) c.1076A>C (p.Gln359Pro) c.*559A>C (n.*559A>C) c.1166A>C (p.Gln389Pro) c.*1021A>C (n.*1021A>C) c.1187A>C (p.Gln396Pro) c.1049A>C (p.Gln350Pro) c.1244A>C (p.Gln415Pro) c.1367A>C (p.Gln456Pro) c.1255+3056A>C (n.1255+3056A>C) c.1132+6120A>C (n.1132+6120A>C) c.1238A>C (p.Gln413Pro) c.1067A>C (p.Gln356Pro) | |
19 | g.13081791A>G | CA404304427 | NFIX | c.1064A>G (p.Gln355Arg) c.1075+3056A>G (n.1075+3056A>G) c.773+6120A>G c.1190A>G (p.Gln397Arg) c.1214A>G (p.Gln405Arg) c.1076A>G (p.Gln359Arg) c.*559A>G (n.*559A>G) c.1166A>G (p.Gln389Arg) c.*1021A>G (n.*1021A>G) c.1187A>G (p.Gln396Arg) c.1049A>G (p.Gln350Arg) c.1244A>G (p.Gln415Arg) c.1367A>G (p.Gln456Arg) c.1255+3056A>G (n.1255+3056A>G) c.1132+6120A>G (n.1132+6120A>G) c.1238A>G (p.Gln413Arg) c.1067A>G (p.Gln356Arg) | |
19 | g.13081791A>T | CA404304430 | NFIX | c.1064A>T (p.Gln355Leu) c.1075+3056A>T (n.1075+3056A>T) c.773+6120A>T c.1190A>T (p.Gln397Leu) c.1214A>T (p.Gln405Leu) c.1076A>T (p.Gln359Leu) c.*559A>T (n.*559A>T) c.1166A>T (p.Gln389Leu) c.*1021A>T (n.*1021A>T) c.1187A>T (p.Gln396Leu) c.1049A>T (p.Gln350Leu) c.1244A>T (p.Gln415Leu) c.1367A>T (p.Gln456Leu) c.1255+3056A>T (n.1255+3056A>T) c.1132+6120A>T (n.1132+6120A>T) c.1238A>T (p.Gln413Leu) c.1067A>T (p.Gln356Leu) |