Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.13081679_13081696delinsGGGAGCCCCCGGGCCACACA2323714179NFIXc.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
19g.13081681_13081697delCA205694NFIXc.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
19g.13081691dupCA2573320354NFIXc.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
19g.13081691delCA2735778069NFIXc.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
19g.13081691G>ACA404303584NFIXc.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)
19g.13081691G>CCA404303589NFIXc.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)
19g.13081691G>TCA404303594NFIXc.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)
19g.13081692C>ACA404303604NFIXc.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
19g.13081692C>GCA404303607NFIXc.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)
19g.13081692C>TCA404303616NFIXc.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)
19g.13081693C>ACA505651437NFIXc.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=)
19g.13081693C>GCA505651436NFIXc.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=)
19g.13081693C>TCA505651435NFIXc.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=)
19g.13081694A>CCA404303621NFIXc.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)
19g.13081694A>GCA404303622NFIXc.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)
19g.13081694A>TCA404303625NFIXc.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)
19g.13081695C>ACA404303632NFIXc.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)
19g.13081695C>GCA404303636NFIXc.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)
19g.13081695C>TCA404303629NFIXc.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)
19g.13081696A=CA2323714187NFIXc.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=)
19g.13081696A>CCA505651439NFIXc.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=)
19g.13081696A>GCA305560629NFIXc.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
19g.13081696A>TCA505651438NFIXc.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=)
19g.13081697G>ACA404303645NFIXc.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
19g.13081697G>CCA404303647NFIXc.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)
19g.13081697G>TCA404303649NFIXc.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)
19g.13081698C>ACA404303651NFIXc.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
19g.13081698C=CA2323714188NFIXc.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=)
19g.13081698C>GCA404303652NFIXc.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)
19g.13081698C>TCA9237140NFIXc.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
19g.13081699A=CA2323714189NFIXc.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=)
19g.13081699A>CCA505651440NFIXc.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=)
19g.13081699A>GCA505651442NFIXc.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
19g.13081699A>TCA505651441NFIXc.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=)
19g.13081700T>ACA404303659NFIXc.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
19g.13081700T>CCA404303662NFIXc.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)
19g.13081700T>GCA404303665NFIXc.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)
19g.13081700T=CA2323714190NFIXc.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=)
19g.13081701C>ACA404303671NFIXc.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)
19g.13081701C>GCA404303675NFIXc.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)
19g.13081701C>TCA404303677NFIXc.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)
19g.13081702A>CCA505651443NFIXc.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=)
19g.13081702A>GCA505651444NFIXc.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=)
19g.13081702A>TCA505651445NFIXc.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=)
19g.13081703G>ACA404303679NFIXc.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
19g.13081703G>CCA404303680NFIXc.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)
19g.13081703G>TCA404303678NFIXc.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)
19g.13081704C>ACA404303681NFIXc.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
19g.13081704C=CA2323714191NFIXc.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=)
19g.13081704C>GCA404303683NFIXc.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)
19g.13081704C>TCA404303684NFIXc.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)
19g.13081705C>ACA505651446NFIXc.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=)
19g.13081705C=CA2323714192NFIXc.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=)
19g.13081705C>GCA505651447NFIXc.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=)
19g.13081705C>TCA305560638NFIXc.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
19g.13081706C>ACA404303685NFIXc.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)
19g.13081706C>GCA404303686NFIXc.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)
19g.13081706C>TCA505651448NFIXc.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=)
19g.13081707T>ACA404303690NFIXc.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)
19g.13081707T>CCA404303688NFIXc.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)
19g.13081707T>GCA404303689NFIXc.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)
19g.13081708G>ACA505651449NFIXc.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
19g.13081708G>CCA505651450NFIXc.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
19g.13081708G=CA2323714193NFIXc.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=)
19g.13081708G>TCA505651451NFIXc.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=)
19g.13081709C>ACA404303693NFIXc.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)
19g.13081709C>GCA404303695NFIXc.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)
19g.13081709C>TCA404303698NFIXc.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)
19g.13081712_13081722delCA645604837NFIXc.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
19g.13081710A>CCA404303701NFIXc.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)
19g.13081710A>GCA404303702NFIXc.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)
19g.13081710A>TCA404303705NFIXc.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)
19g.13081711C>ACA404303708NFIXc.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)
19g.13081711C>GCA404303711NFIXc.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
19g.13081711C>TCA505651452NFIXc.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
19g.13081712T>ACA404303715NFIXc.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)
19g.13081712T>CCA404303721NFIXc.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)
19g.13081712T>GCA404303717NFIXc.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)
19g.13081713T>ACA404303733NFIXc.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)
19g.13081713T>CCA404303737NFIXc.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)
19g.13081713T>GCA404303735NFIXc.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)
19g.13081713T=CA2323714194NFIXc.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=)
19g.13081714C>ACA404303744NFIXc.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)
19g.13081714C=CA2323714195NFIXc.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=)
19g.13081714C>GCA404303747NFIXc.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)
19g.13081714C>TCA9237141NFIXc.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
19g.13081717dupCA10603341NFIXc.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
19g.13081717delCA2573320351NFIXc.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)
19g.13081715C>ACA404303754NFIXc.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)
19g.13081715C>GCA404303755NFIXc.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)
19g.13081715C>TCA404303758NFIXc.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)
19g.13081716C>ACA404303762NFIXc.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)
19g.13081716C>GCA404303765NFIXc.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)
19g.13081716C>TCA404303766NFIXc.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
19g.13081717C>ACA505651453NFIXc.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=)
19g.13081717C=CA2323714196NFIXc.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=)
19g.13081717C>GCA505651454NFIXc.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=)
19g.13081717C>TCA505651455NFIXc.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
19g.13081718delCA2695228283NFIXc.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)
19g.13081718T>ACA404303767NFIXc.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)
19g.13081718T>CCA404303769NFIXc.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)
19g.13081718T>GCA404303771NFIXc.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)
19g.13081719C>ACA404303772NFIXc.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)
19g.13081719C>GCA404303775NFIXc.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)
19g.13081719C>TCA404303774NFIXc.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
19g.13081720C>ACA505651458NFIXc.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
19g.13081720C>GCA505651457NFIXc.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=)
19g.13081720C>TCA505651456NFIXc.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=)
19g.13081721delCA2695228284NFIXc.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)
19g.13081721A=CA2323714197NFIXc.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=)
19g.13081721A>CCA404303776NFIXc.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)
19g.13081721A>GCA404303778NFIXc.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
19g.13081721A>TCA404303779NFIXc.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)
19g.13081722C>ACA404303789NFIXc.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)
19g.13081722C=CA2323714198NFIXc.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=)
19g.13081722C>GCA404303794NFIXc.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)
19g.13081722C>TCA404303797NFIXc.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
19g.13081723G>ACA505651459NFIXc.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
19g.13081723G>CCA505651460NFIXc.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=)
19g.13081723G=CA2323714199NFIXc.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=)
19g.13081723G>TCA505651461NFIXc.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
19g.13081724T>ACA404303817NFIXc.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
19g.13081724T>CCA404303821NFIXc.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)
19g.13081724T>GCA404303837NFIXc.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)
19g.13081725C>ACA404303848NFIXc.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)
19g.13081725C>GCA404303867NFIXc.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)
19g.13081725C>TCA404303844NFIXc.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)
19g.13081726C>ACA505651462NFIXc.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=)
19g.13081726C>GCA505651464NFIXc.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=)
19g.13081726C>TCA505651463NFIXc.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=)
19g.13081727A>CCA404303877NFIXc.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)
19g.13081727A>GCA404303878NFIXc.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)
19g.13081727A>TCA404303887NFIXc.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)
19g.13081728T>ACA404303892NFIXc.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)
19g.13081728T>CCA404303893NFIXc.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)
19g.13081728T>GCA404303894NFIXc.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)
19g.13081729C>ACA505651465NFIXc.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=)
19g.13081729C>GCA404303897NFIXc.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)
19g.13081729C>TCA505651466NFIXc.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=)
19g.13081730A=CA2323714200NFIXc.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=)
19g.13081730A>CCA404303920NFIXc.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)
19g.13081730A>GCA404303922NFIXc.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)
19g.13081730A>TCA404303921NFIXc.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
19g.13081731T>ACA404303927NFIXc.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)
19g.13081731T>CCA404303931NFIXc.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)
19g.13081731T>GCA404303937NFIXc.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)
19g.13081731T=CA2323714202NFIXc.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=)
19g.13081731dupCA2323714201NFIXc.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
19g.13081732C>ACA505651467NFIXc.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=)
19g.13081732C=CA2323714203NFIXc.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=)
19g.13081732C>GCA404303943NFIXc.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)
19g.13081732C>TCA505651468NFIXc.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
19g.13081732_13081738dupCA915952492NFIXc.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
19g.13081733C>ACA404303954NFIXc.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)
19g.13081733C>GCA404303963NFIXc.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)
19g.13081733C>TCA404303957NFIXc.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)
19g.13081734A=CA2323714204NFIXc.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=)
19g.13081734A>CCA9237142NFIXc.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
19g.13081734A>GCA404303967NFIXc.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)
19g.13081734A>TCA404303970NFIXc.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)
19g.13081735G>ACA9237143NFIXc.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
19g.13081735G>CCA404303984NFIXc.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)
19g.13081735G=CA2323714205NFIXc.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=)
19g.13081735G>TCA404303986NFIXc.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)
19g.13081736C>ACA404303989NFIXc.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)
19g.13081736C>GCA404303999NFIXc.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)
19g.13081736C>TCA404304001NFIXc.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)
19g.13081737A>CCA404304003NFIXc.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)
19g.13081737A>GCA404304006NFIXc.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)
19g.13081737A>TCA404304009NFIXc.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)
19g.13081738G>ACA505651469NFIXc.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
19g.13081738G>CCA404304017NFIXc.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)
19g.13081738G=CA2323714206NFIXc.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=)
19g.13081738G>TCA404304013NFIXc.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
19g.13081739T>ACA404304019NFIXc.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)
19g.13081739T>CCA404304020NFIXc.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)
19g.13081739T>GCA404304021NFIXc.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)
19g.13081740C>ACA404304024NFIXc.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)
19g.13081740C=CA2323714207NFIXc.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=)
19g.13081740C>GCA404304027NFIXc.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)
19g.13081740C>TCA404304030NFIXc.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
19g.13081741G>ACA203604NFIXc.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
19g.13081741G>CCA505651470NFIXc.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
19g.13081741G=CA2323714208NFIXc.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=)
19g.13081741G>TCA505651471NFIXc.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
19g.13081742A>CCA404304050NFIXc.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)
19g.13081742A>GCA404304036NFIXc.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)
19g.13081742A>TCA404304038NFIXc.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)
19g.13081743G>ACA404304055NFIXc.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
19g.13081743G>CCA404304058NFIXc.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)
19g.13081743G=CA2323714209NFIXc.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=)
19g.13081743G>TCA404304060NFIXc.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)
19g.13081744C>ACA404304069NFIXc.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)
19g.13081744C=CA2323714210NFIXc.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=)
19g.13081744C>GCA404304071NFIXc.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)
19g.13081744C>TCA9237144NFIXc.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
19g.13081746delCA2582790527NFIXc.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
19g.13081745C>ACA404304079NFIXc.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
19g.13081745C=CA2323714211NFIXc.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=)
19g.13081745C>GCA404304084NFIXc.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)
19g.13081745C>TCA404304082NFIXc.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)
19g.13081747_13081760delCA2695228285NFIXc.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?)
19g.13081746C>ACA404304086NFIXc.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
19g.13081746C>GCA404304089NFIXc.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
19g.13081746C>TCA404304091NFIXc.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
19g.13081748_13081756dupCA2582790528NFIXc.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
19g.13081747G>ACA9237145NFIXc.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
19g.13081747G>CCA505651474NFIXc.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=)
19g.13081747G=CA2323714212NFIXc.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=)
19g.13081747G>TCA505651476NFIXc.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=)
19g.13081748T>ACA404304099NFIXc.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)
19g.13081748T>CCA404304100NFIXc.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)
19g.13081748T>GCA404304103NFIXc.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)
19g.13081748dupCA2695228286NFIXc.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?)
19g.13081749A>CCA404304104NFIXc.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)
19g.13081749A>GCA404304105NFIXc.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)
19g.13081749A>TCA404304109NFIXc.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)
19g.13081750T>ACA404304112NFIXc.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)
19g.13081750T>CCA505651477NFIXc.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
19g.13081750T>GCA404304115NFIXc.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)
19g.13081750T=CA2323714213NFIXc.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=)
19g.13081751T>ACA404304119NFIXc.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)
19g.13081751T>CCA404304122NFIXc.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)
19g.13081751T>GCA404304120NFIXc.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)
19g.13081752T>ACA404304126NFIXc.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)
19g.13081752T>CCA404304129NFIXc.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)
19g.13081752T>GCA404304133NFIXc.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)
19g.13081753C>ACA404304138NFIXc.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)
19g.13081753C>GCA404304141NFIXc.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)
19g.13081753C>TCA505651481NFIXc.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
19g.13081754A=CA2323714214NFIXc.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=)
19g.13081754A>CCA404304144NFIXc.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
19g.13081754A>GCA404304146NFIXc.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)
19g.13081754A>TCA404304149NFIXc.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)
19g.13081755C>ACA404304155NFIXc.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)
19g.13081755C=CA2323714215NFIXc.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=)
19g.13081755C>GCA404304158NFIXc.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)
19g.13081755C>TCA404304162NFIXc.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
19g.13081756G>ACA505651482NFIXc.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
19g.13081756G>CCA505651484NFIXc.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=)
19g.13081756G=CA2323714216NFIXc.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=)
19g.13081756G>TCA9237146NFIXc.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
19g.13081756_13081757delinsAACA2580096565NFIXc.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
19g.13081757C>ACA404304173NFIXc.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)
19g.13081757C>GCA404304170NFIXc.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)
19g.13081757C>TCA404304167NFIXc.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
19g.13081758A=CA2323714217NFIXc.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=)
19g.13081758A>CCA9237147NFIXc.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
19g.13081758A>GCA404304178NFIXc.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)
19g.13081758A>TCA404304181NFIXc.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)
19g.13081759C>ACA404304185NFIXc.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)
19g.13081759C>GCA404304189NFIXc.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)
19g.13081759C>TCA505651487NFIXc.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
19g.13081761delCA2582790529NFIXc.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
19g.13081760C>ACA404304196NFIXc.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)
19g.13081760C=CA2323714218NFIXc.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=)
19g.13081760C>GCA404304198NFIXc.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)
19g.13081760C>TCA404304200NFIXc.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
19g.13081761C>ACA404304203NFIXc.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)
19g.13081761C=CA2323714219NFIXc.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=)
19g.13081761C>GCA404304205NFIXc.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
19g.13081761C>TCA404304207NFIXc.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
19g.13081762G>ACA9237148NFIXc.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
19g.13081762G>CCA505651490NFIXc.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
19g.13081762G=CA2323714220NFIXc.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=)
19g.13081762G>TCA505651489NFIXc.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
19g.13081763A=CA2323714221NFIXc.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=)
19g.13081763A>CCA9237149NFIXc.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
19g.13081763A>GCA404304216NFIXc.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
19g.13081763A>TCA404304213NFIXc.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)
19g.13081764C>ACA404304220NFIXc.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)
19g.13081764C>GCA404304225NFIXc.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)
19g.13081764C>TCA404304222NFIXc.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)
19g.13081765C>ACA505651491NFIXc.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=)
19g.13081765C>GCA505651492NFIXc.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=)
19g.13081765C>TCA505651494NFIXc.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=)
19g.13081766A>CCA404304229NFIXc.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)
19g.13081766A>GCA404304234NFIXc.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)
19g.13081766A>TCA404304232NFIXc.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)
19g.13081767T>ACA404304241NFIXc.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)
19g.13081767T>CCA404304244NFIXc.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)
19g.13081767T>GCA404304247NFIXc.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)
19g.13081768C>ACA505651495NFIXc.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
19g.13081768C=CA2323714222NFIXc.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=)
19g.13081768C>GCA404304250NFIXc.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)
19g.13081768C>TCA505651496NFIXc.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
19g.13081770_13081775dupCA2580096566NFIXc.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
19g.13081769C>ACA404304254NFIXc.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)
19g.13081769C>GCA404304256NFIXc.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
19g.13081769C>TCA404304258NFIXc.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)
19g.13081770G>ACA404304261NFIXc.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
19g.13081770G>CCA404304263NFIXc.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)
19g.13081770G=CA2323714223NFIXc.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=)
19g.13081770G>TCA404304265NFIXc.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)
19g.13081771C>ACA505651499NFIXc.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=)
19g.13081771C>GCA505651500NFIXc.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=)
19g.13081771C>TCA505651501NFIXc.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=)
19g.13081772T>ACA404304277NFIXc.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)
19g.13081772T>CCA404304271NFIXc.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)
19g.13081772T>GCA404304274NFIXc.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)
19g.13081772_13081778delinsTACCACCCA2323714224NFIXc.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=)
19g.13081773A>CCA404304279NFIXc.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)
19g.13081773A>GCA404304280NFIXc.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)
19g.13081773A>TCA404304282NFIXc.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)
19g.13081784_13081786dupCA9237151NFIXc.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
19g.13081784_13081786delCA9237150NFIXc.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
19g.13081781_13081786delCA305560723NFIXc.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
19g.13081774C>ACA404304285NFIXc.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)
19g.13081774C>GCA404304287NFIXc.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)
19g.13081774C>TCA505651503NFIXc.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=)
19g.13081775C>ACA404304292NFIXc.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)
19g.13081775C>GCA404304300NFIXc.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)
19g.13081775C>TCA404304303NFIXc.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)
19g.13081776A>CCA404304310NFIXc.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)
19g.13081776A>GCA404304311NFIXc.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)
19g.13081776A>TCA404304309NFIXc.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)
19g.13081777C>ACA404304313NFIXc.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)
19g.13081777C>GCA404304317NFIXc.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)
19g.13081777C>TCA505651504NFIXc.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
19g.13081778C>ACA404304322NFIXc.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)
19g.13081778C>GCA404304326NFIXc.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)
19g.13081778C>TCA404304328NFIXc.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)
19g.13081779A>CCA404304339NFIXc.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)
19g.13081779A>GCA404304333NFIXc.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)
19g.13081779A>TCA404304336NFIXc.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)
19g.13081779_13081780delinsACCA2323714225NFIXc.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=)
19g.13081780C>ACA404304342NFIXc.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)
19g.13081780C=CA2323714226NFIXc.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=)
19g.13081780C>GCA404304344NFIXc.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)
19g.13081780C>TCA505651507NFIXc.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
19g.13081781delCA658799164NFIXc.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
19g.13081781C>ACA404304348NFIXc.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)
19g.13081781C>GCA404304349NFIXc.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)
19g.13081781C>TCA404304351NFIXc.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)
19g.13081782A=CA2323714227NFIXc.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=)
19g.13081782A>CCA404304353NFIXc.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)
19g.13081782A>GCA404304356NFIXc.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
19g.13081782A>TCA404304354NFIXc.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)
19g.13081783C>ACA404304358NFIXc.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)
19g.13081783C=CA2323714228NFIXc.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=)
19g.13081783C>GCA404304366NFIXc.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)
19g.13081783C>TCA505651508NFIXc.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
19g.13081784delCA2573054720NFIXc.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
19g.13081784C>ACA404304368NFIXc.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)
19g.13081784C>GCA404304370NFIXc.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)
19g.13081784C>TCA404304371NFIXc.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)
19g.13081785A>CCA404304375NFIXc.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)
19g.13081785A>GCA404304376NFIXc.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)
19g.13081785A>TCA404304379NFIXc.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)
19g.13081786C>ACA404304383NFIXc.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)
19g.13081786C=CA2323714229NFIXc.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=)
19g.13081786C>GCA404304385NFIXc.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)
19g.13081786C>TCA9237152NFIXc.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
19g.13081786_13081787delinsCGCA2323714230NFIXc.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=)
19g.13081787G>ACA404304396NFIXc.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
19g.13081787G>CCA404304398NFIXc.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)
19g.13081787G=CA2323714231NFIXc.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=)
19g.13081787G>TCA404304393NFIXc.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)
19g.13081789delCA1139666309NFIXc.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
19g.13081788G>ACA404304410NFIXc.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)
19g.13081788G>CCA404304401NFIXc.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)
19g.13081788G>TCA404304408NFIXc.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)
19g.13081789G>ACA505651512NFIXc.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
19g.13081789G>CCA505651514NFIXc.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=)
19g.13081789G=CA2323714232NFIXc.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=)
19g.13081789G>TCA505651513NFIXc.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=)
19g.13081790C>ACA404304413NFIXc.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)
19g.13081790C>GCA404304418NFIXc.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)
19g.13081790C>TCA404304421NFIXc.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)
19g.13081791A>CCA404304425NFIXc.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)
19g.13081791A>GCA404304427NFIXc.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)
19g.13081791A>TCA404304430NFIXc.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)

Number of alleles fetched