| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13081681del | CA645294119 | NFIX | c.954del c.1075+2946del (n.1075+2946del) c.773+6010del c.1080del c.1104del c.966del c.*449del c.1056del c.*911del c.1077del c.939del c.1134del c.1257del c.1255+2946del (n.1255+2946del) c.1132+6010del (n.1132+6010del) c.1128del c.957del | ClinVar dbSNP |
| 19 | g.13081679_13081696delinsGGGAGCCCCCGGGCCACA | CA2323714179 | NFIX | c.953-1_969delinsGGGAGCCCCCGGGCCACA c.1075+2944_1075+2961delinsGGGAGCCCCCGGGCCACA (n.1075+2944_1075+2961delinsGGGAGCCCCCGGGCCACA) c.773+6008_773+6025delinsGGGAGCCCCCGGGCCACA c.1079-1_1095delinsGGGAGCCCCCGGGCCACA c.1103-1_1119delinsGGGAGCCCCCGGGCCACA c.965-1_981delinsGGGAGCCCCCGGGCCACA c.*448-1_*464delinsGGGAGCCCCCGGGCCACA c.1055-1_1071delinsGGGAGCCCCCGGGCCACA c.*910-1_*926delinsGGGAGCCCCCGGGCCACA c.1076-1_1092delinsGGGAGCCCCCGGGCCACA c.938-1_954delinsGGGAGCCCCCGGGCCACA c.1133-1_1149delinsGGGAGCCCCCGGGCCACA c.1256-1_1272delinsGGGAGCCCCCGGGCCACA c.1255+2944_1255+2961delinsGGGAGCCCCCGGGCCACA (n.1255+2944_1255+2961delinsGGGAGCCCCCGGGCCACA) c.1132+6008_1132+6025delinsGGGAGCCCCCGGGCCACA (n.1132+6008_1132+6025delinsGGGAGCCCCCGGGCCACA) c.1127-1_1143delinsGGGAGCCCCCGGGCCACA c.956-1_972delinsGGGAGCCCCCGGGCCACA | |
| 19 | g.13081681_13081697del | CA205694 | NFIX | c.954_970del (p.Ser319IlefsTer?) c.1075+2946_1075+2962del (n.1075+2946_1075+2962del) c.773+6010_773+6026del c.1080_1096del (p.Ser361IlefsTer?) c.1104_1120del (p.Ser369IlefsTer?) c.966_982del (p.Ser323IlefsTer?) c.*449_*465del (n.*449_*465del) c.1056_1072del (p.Ser353IlefsTer?) c.*911_*927del (n.*911_*927del) c.1077_1093del (p.Ser360IlefsTer?) c.939_955del (p.Ser314IlefsTer?) c.1134_1150del (p.Ser379IlefsTer?) c.1257_1273del (p.Ser420IlefsTer?) c.1255+2946_1255+2962del (n.1255+2946_1255+2962del) c.1132+6010_1132+6026del (n.1132+6010_1132+6026del) c.1128_1144del (p.Ser377IlefsTer?) c.957_973del (p.Ser320IlefsTer?) | ClinVar dbSNP |
| 19 | g.13081681G>A | CA505651426 | NFIX | c.954G>A (p.Gly318=) c.1075+2946G>A (n.1075+2946G>A) c.773+6010G>A c.1080G>A (p.Gly360=) c.1104G>A (p.Gly368=) c.966G>A (p.Gly322=) c.*449G>A (n.*449G>A) c.1056G>A (p.Gly352=) c.*911G>A (n.*911G>A) c.1077G>A (p.Gly359=) c.939G>A (p.Gly313=) c.1134G>A (p.Gly378=) c.1257G>A (p.Gly419=) c.1255+2946G>A (n.1255+2946G>A) c.1132+6010G>A (n.1132+6010G>A) c.1128G>A (p.Gly376=) c.957G>A (p.Gly319=) | gnomAD v4 |
| 19 | g.13081681G>C | CA505651427 | NFIX | c.954G>C (p.Gly318=) c.1075+2946G>C (n.1075+2946G>C) c.773+6010G>C c.1080G>C (p.Gly360=) c.1104G>C (p.Gly368=) c.966G>C (p.Gly322=) c.*449G>C (n.*449G>C) c.1056G>C (p.Gly352=) c.*911G>C (n.*911G>C) c.1077G>C (p.Gly359=) c.939G>C (p.Gly313=) c.1134G>C (p.Gly378=) c.1257G>C (p.Gly419=) c.1255+2946G>C (n.1255+2946G>C) c.1132+6010G>C (n.1132+6010G>C) c.1128G>C (p.Gly376=) c.957G>C (p.Gly319=) | |
| 19 | g.13081681G>T | CA505651428 | NFIX | c.954G>T (p.Gly318=) c.1075+2946G>T (n.1075+2946G>T) c.773+6010G>T c.1080G>T (p.Gly360=) c.1104G>T (p.Gly368=) c.966G>T (p.Gly322=) c.*449G>T (n.*449G>T) c.1056G>T (p.Gly352=) c.*911G>T (n.*911G>T) c.1077G>T (p.Gly359=) c.939G>T (p.Gly313=) c.1134G>T (p.Gly378=) c.1257G>T (p.Gly419=) c.1255+2946G>T (n.1255+2946G>T) c.1132+6010G>T (n.1132+6010G>T) c.1128G>T (p.Gly376=) c.957G>T (p.Gly319=) | |
| 19 | g.13081682A>C | CA404303498 | NFIX | c.955A>C (p.Ser319Arg) c.1075+2947A>C (n.1075+2947A>C) c.773+6011A>C c.1081A>C (p.Ser361Arg) c.1105A>C (p.Ser369Arg) c.967A>C (p.Ser323Arg) c.*450A>C (n.*450A>C) c.1057A>C (p.Ser353Arg) c.*912A>C (n.*912A>C) c.1078A>C (p.Ser360Arg) c.940A>C (p.Ser314Arg) c.1135A>C (p.Ser379Arg) c.1258A>C (p.Ser420Arg) c.1255+2947A>C (n.1255+2947A>C) c.1132+6011A>C (n.1132+6011A>C) c.1129A>C (p.Ser377Arg) c.958A>C (p.Ser320Arg) | |
| 19 | g.13081682A>G | CA404303504 | NFIX | c.955A>G (p.Ser319Gly) c.1075+2947A>G (n.1075+2947A>G) c.773+6011A>G c.1081A>G (p.Ser361Gly) c.1105A>G (p.Ser369Gly) c.967A>G (p.Ser323Gly) c.*450A>G (n.*450A>G) c.1057A>G (p.Ser353Gly) c.*912A>G (n.*912A>G) c.1078A>G (p.Ser360Gly) c.940A>G (p.Ser314Gly) c.1135A>G (p.Ser379Gly) c.1258A>G (p.Ser420Gly) c.1255+2947A>G (n.1255+2947A>G) c.1132+6011A>G (n.1132+6011A>G) c.1129A>G (p.Ser377Gly) c.958A>G (p.Ser320Gly) | ClinVar |
| 19 | g.13081682A>T | CA404303501 | NFIX | c.955A>T (p.Ser319Cys) c.1075+2947A>T (n.1075+2947A>T) c.773+6011A>T c.1081A>T (p.Ser361Cys) c.1105A>T (p.Ser369Cys) c.967A>T (p.Ser323Cys) c.*450A>T (n.*450A>T) c.1057A>T (p.Ser353Cys) c.*912A>T (n.*912A>T) c.1078A>T (p.Ser360Cys) c.940A>T (p.Ser314Cys) c.1135A>T (p.Ser379Cys) c.1258A>T (p.Ser420Cys) c.1255+2947A>T (n.1255+2947A>T) c.1132+6011A>T (n.1132+6011A>T) c.1129A>T (p.Ser377Cys) c.958A>T (p.Ser320Cys) | |
| 19 | g.13081683G>A | CA404303508 | NFIX | c.956G>A (p.Ser319Asn) c.1075+2948G>A (n.1075+2948G>A) c.773+6012G>A c.1082G>A (p.Ser361Asn) c.1106G>A (p.Ser369Asn) c.968G>A (p.Ser323Asn) c.*451G>A (n.*451G>A) c.1058G>A (p.Ser353Asn) c.*913G>A (n.*913G>A) c.1079G>A (p.Ser360Asn) c.941G>A (p.Ser314Asn) c.1136G>A (p.Ser379Asn) c.1259G>A (p.Ser420Asn) c.1255+2948G>A (n.1255+2948G>A) c.1132+6012G>A (n.1132+6012G>A) c.1130G>A (p.Ser377Asn) c.959G>A (p.Ser320Asn) | |
| 19 | g.13081683G>C | CA404303510 | NFIX | c.956G>C (p.Ser319Thr) c.1075+2948G>C (n.1075+2948G>C) c.773+6012G>C c.1082G>C (p.Ser361Thr) c.1106G>C (p.Ser369Thr) c.968G>C (p.Ser323Thr) c.*451G>C (n.*451G>C) c.1058G>C (p.Ser353Thr) c.*913G>C (n.*913G>C) c.1079G>C (p.Ser360Thr) c.941G>C (p.Ser314Thr) c.1136G>C (p.Ser379Thr) c.1259G>C (p.Ser420Thr) c.1255+2948G>C (n.1255+2948G>C) c.1132+6012G>C (n.1132+6012G>C) c.1130G>C (p.Ser377Thr) c.959G>C (p.Ser320Thr) | |
| 19 | g.13081683G= | CA2323714180 | NFIX | c.956G= (p.Ser319=) c.1075+2948G= (n.1075+2948G=) c.773+6012G= c.1082G= (p.Ser361=) c.1106G= (p.Ser369=) c.968G= (p.Ser323=) c.*451G= (n.*451G=) c.1058G= (p.Ser353=) c.*913G= (n.*913G=) c.1079G= (p.Ser360=) c.941G= (p.Ser314=) c.1136G= (p.Ser379=) c.1259G= (p.Ser420=) c.1255+2948G= (n.1255+2948G=) c.1132+6012G= (n.1132+6012G=) c.1130G= (p.Ser377=) c.959G= (p.Ser320=) | |
| 19 | g.13081683G>T | CA404303509 | NFIX | c.956G>T (p.Ser319Ile) c.1075+2948G>T (n.1075+2948G>T) c.773+6012G>T c.1082G>T (p.Ser361Ile) c.1106G>T (p.Ser369Ile) c.968G>T (p.Ser323Ile) c.*451G>T (n.*451G>T) c.1058G>T (p.Ser353Ile) c.*913G>T (n.*913G>T) c.1079G>T (p.Ser360Ile) c.941G>T (p.Ser314Ile) c.1136G>T (p.Ser379Ile) c.1259G>T (p.Ser420Ile) c.1255+2948G>T (n.1255+2948G>T) c.1132+6012G>T (n.1132+6012G>T) c.1130G>T (p.Ser377Ile) c.959G>T (p.Ser320Ile) | |
| 19 | g.13081684C>A | CA404303512 | NFIX | c.957C>A (p.Ser319Arg) c.1075+2949C>A (n.1075+2949C>A) c.773+6013C>A c.1083C>A (p.Ser361Arg) c.1107C>A (p.Ser369Arg) c.969C>A (p.Ser323Arg) c.*452C>A (n.*452C>A) c.1059C>A (p.Ser353Arg) c.*914C>A (n.*914C>A) c.1080C>A (p.Ser360Arg) c.942C>A (p.Ser314Arg) c.1137C>A (p.Ser379Arg) c.1260C>A (p.Ser420Arg) c.1255+2949C>A (n.1255+2949C>A) c.1132+6013C>A (n.1132+6013C>A) c.1131C>A (p.Ser377Arg) c.960C>A (p.Ser320Arg) | |
| 19 | g.13081684C= | CA2323714181 | NFIX | c.957C= (p.Ser319=) c.1075+2949C= (n.1075+2949C=) c.773+6013C= c.1083C= (p.Ser361=) c.1107C= (p.Ser369=) c.969C= (p.Ser323=) c.*452C= (n.*452C=) c.1059C= (p.Ser353=) c.*914C= (n.*914C=) c.1080C= (p.Ser360=) c.942C= (p.Ser314=) c.1137C= (p.Ser379=) c.1260C= (p.Ser420=) c.1255+2949C= (n.1255+2949C=) c.1132+6013C= (n.1132+6013C=) c.1131C= (p.Ser377=) c.960C= (p.Ser320=) | |
| 19 | g.13081684C>G | CA404303515 | NFIX | c.957C>G (p.Ser319Arg) c.1075+2949C>G (n.1075+2949C>G) c.773+6013C>G c.1083C>G (p.Ser361Arg) c.1107C>G (p.Ser369Arg) c.969C>G (p.Ser323Arg) c.*452C>G (n.*452C>G) c.1059C>G (p.Ser353Arg) c.*914C>G (n.*914C>G) c.1080C>G (p.Ser360Arg) c.942C>G (p.Ser314Arg) c.1137C>G (p.Ser379Arg) c.1260C>G (p.Ser420Arg) c.1255+2949C>G (n.1255+2949C>G) c.1132+6013C>G (n.1132+6013C>G) c.1131C>G (p.Ser377Arg) c.960C>G (p.Ser320Arg) | |
| 19 | g.13081684C>T | CA9237136 | NFIX | c.957C>T (p.Ser319=) c.1075+2949C>T (n.1075+2949C>T) c.773+6013C>T c.1083C>T (p.Ser361=) c.1107C>T (p.Ser369=) c.969C>T (p.Ser323=) c.*452C>T (n.*452C>T) c.1059C>T (p.Ser353=) c.*914C>T (n.*914C>T) c.1080C>T (p.Ser360=) c.942C>T (p.Ser314=) c.1137C>T (p.Ser379=) c.1260C>T (p.Ser420=) c.1255+2949C>T (n.1255+2949C>T) c.1132+6013C>T (n.1132+6013C>T) c.1131C>T (p.Ser377=) c.960C>T (p.Ser320=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13081688dup | CA10603432 | NFIX | c.961dup (p.Arg321ProfsTer?) c.1075+2953dup (n.1075+2953dup) c.773+6017dup c.1087dup (p.Arg363ProfsTer?) c.1111dup (p.Arg371ProfsTer?) c.973dup (p.Arg325ProfsTer?) c.*456dup (n.*456dup) c.1063dup (p.Arg355ProfsTer?) c.*918dup (n.*918dup) c.1084dup (p.Arg362ProfsTer?) c.946dup (p.Arg316ProfsTer?) c.1141dup (p.Arg381ProfsTer?) c.1264dup (p.Arg422ProfsTer?) c.1255+2953dup (n.1255+2953dup) c.1132+6017dup (n.1132+6017dup) c.1135dup (p.Arg379ProfsTer?) c.964dup (p.Arg322ProfsTer?) | ClinVar dbSNP |
| 19 | g.13081688del | CA2582790526 | NFIX | c.961del (p.Arg321GlyfsTer?) c.1075+2953del (n.1075+2953del) c.773+6017del c.1087del (p.Arg363GlyfsTer?) c.1111del (p.Arg371GlyfsTer?) c.973del (p.Arg325GlyfsTer?) c.*456del (n.*456del) c.1063del (p.Arg355GlyfsTer?) c.*918del (n.*918del) c.1084del (p.Arg362GlyfsTer?) c.946del (p.Arg316GlyfsTer?) c.1141del (p.Arg381GlyfsTer?) c.1264del (p.Arg422GlyfsTer?) c.1255+2953del (n.1255+2953del) c.1132+6017del (n.1132+6017del) c.1135del (p.Arg379GlyfsTer?) c.964del (p.Arg322GlyfsTer?) | gnomAD v4 |
| 19 | g.13081685C>A | CA404303523 | NFIX | c.958C>A (p.Pro320Thr) c.1075+2950C>A (n.1075+2950C>A) c.773+6014C>A c.1084C>A (p.Pro362Thr) c.1108C>A (p.Pro370Thr) c.970C>A (p.Pro324Thr) c.*453C>A (n.*453C>A) c.1060C>A (p.Pro354Thr) c.*915C>A (n.*915C>A) c.1081C>A (p.Pro361Thr) c.943C>A (p.Pro315Thr) c.1138C>A (p.Pro380Thr) c.1261C>A (p.Pro421Thr) c.1255+2950C>A (n.1255+2950C>A) c.1132+6014C>A (n.1132+6014C>A) c.1132C>A (p.Pro378Thr) c.961C>A (p.Pro321Thr) | |
| 19 | g.13081685C= | CA2323714182 | NFIX | c.958C= (p.Pro320=) c.1075+2950C= (n.1075+2950C=) c.773+6014C= c.1084C= (p.Pro362=) c.1108C= (p.Pro370=) c.970C= (p.Pro324=) c.*453C= (n.*453C=) c.1060C= (p.Pro354=) c.*915C= (n.*915C=) c.1081C= (p.Pro361=) c.943C= (p.Pro315=) c.1138C= (p.Pro380=) c.1261C= (p.Pro421=) c.1255+2950C= (n.1255+2950C=) c.1132+6014C= (n.1132+6014C=) c.1132C= (p.Pro378=) c.961C= (p.Pro321=) | |
| 19 | g.13081685C>G | CA404303524 | NFIX | c.958C>G (p.Pro320Ala) c.1075+2950C>G (n.1075+2950C>G) c.773+6014C>G c.1084C>G (p.Pro362Ala) c.1108C>G (p.Pro370Ala) c.970C>G (p.Pro324Ala) c.*453C>G (n.*453C>G) c.1060C>G (p.Pro354Ala) c.*915C>G (n.*915C>G) c.1081C>G (p.Pro361Ala) c.943C>G (p.Pro315Ala) c.1138C>G (p.Pro380Ala) c.1261C>G (p.Pro421Ala) c.1255+2950C>G (n.1255+2950C>G) c.1132+6014C>G (n.1132+6014C>G) c.1132C>G (p.Pro378Ala) c.961C>G (p.Pro321Ala) | |
| 19 | g.13081685C>T | CA404303529 | NFIX | c.958C>T (p.Pro320Ser) c.1075+2950C>T (n.1075+2950C>T) c.773+6014C>T c.1084C>T (p.Pro362Ser) c.1108C>T (p.Pro370Ser) c.970C>T (p.Pro324Ser) c.*453C>T (n.*453C>T) c.1060C>T (p.Pro354Ser) c.*915C>T (n.*915C>T) c.1081C>T (p.Pro361Ser) c.943C>T (p.Pro315Ser) c.1138C>T (p.Pro380Ser) c.1261C>T (p.Pro421Ser) c.1255+2950C>T (n.1255+2950C>T) c.1132+6014C>T (n.1132+6014C>T) c.1132C>T (p.Pro378Ser) c.961C>T (p.Pro321Ser) | dbSNP |
| 19 | g.13081686C>A | CA404303559 | NFIX | c.959C>A (p.Pro320His) c.1075+2951C>A (n.1075+2951C>A) c.773+6015C>A c.1085C>A (p.Pro362His) c.1109C>A (p.Pro370His) c.971C>A (p.Pro324His) c.*454C>A (n.*454C>A) c.1061C>A (p.Pro354His) c.*916C>A (n.*916C>A) c.1082C>A (p.Pro361His) c.944C>A (p.Pro315His) c.1139C>A (p.Pro380His) c.1262C>A (p.Pro421His) c.1255+2951C>A (n.1255+2951C>A) c.1132+6015C>A (n.1132+6015C>A) c.1133C>A (p.Pro378His) c.962C>A (p.Pro321His) | |
| 19 | g.13081686C= | CA2323714183 | NFIX | c.959C= (p.Pro320=) c.1075+2951C= (n.1075+2951C=) c.773+6015C= c.1085C= (p.Pro362=) c.1109C= (p.Pro370=) c.971C= (p.Pro324=) c.*454C= (n.*454C=) c.1061C= (p.Pro354=) c.*916C= (n.*916C=) c.1082C= (p.Pro361=) c.944C= (p.Pro315=) c.1139C= (p.Pro380=) c.1262C= (p.Pro421=) c.1255+2951C= (n.1255+2951C=) c.1132+6015C= (n.1132+6015C=) c.1133C= (p.Pro378=) c.962C= (p.Pro321=) | |
| 19 | g.13081686C>G | CA404303560 | NFIX | c.959C>G (p.Pro320Arg) c.1075+2951C>G (n.1075+2951C>G) c.773+6015C>G c.1085C>G (p.Pro362Arg) c.1109C>G (p.Pro370Arg) c.971C>G (p.Pro324Arg) c.*454C>G (n.*454C>G) c.1061C>G (p.Pro354Arg) c.*916C>G (n.*916C>G) c.1082C>G (p.Pro361Arg) c.944C>G (p.Pro315Arg) c.1139C>G (p.Pro380Arg) c.1262C>G (p.Pro421Arg) c.1255+2951C>G (n.1255+2951C>G) c.1132+6015C>G (n.1132+6015C>G) c.1133C>G (p.Pro378Arg) c.962C>G (p.Pro321Arg) | |
| 19 | g.13081686C>T | CA9237137 | NFIX | c.959C>T (p.Pro320Leu) c.1075+2951C>T (n.1075+2951C>T) c.773+6015C>T c.1085C>T (p.Pro362Leu) c.1109C>T (p.Pro370Leu) c.971C>T (p.Pro324Leu) c.*454C>T (n.*454C>T) c.1061C>T (p.Pro354Leu) c.*916C>T (n.*916C>T) c.1082C>T (p.Pro361Leu) c.944C>T (p.Pro315Leu) c.1139C>T (p.Pro380Leu) c.1262C>T (p.Pro421Leu) c.1255+2951C>T (n.1255+2951C>T) c.1132+6015C>T (n.1132+6015C>T) c.1133C>T (p.Pro378Leu) c.962C>T (p.Pro321Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13081687C>A | CA505651429 | NFIX | c.960C>A (p.Pro320=) c.1075+2952C>A (n.1075+2952C>A) c.773+6016C>A c.1086C>A (p.Pro362=) c.1110C>A (p.Pro370=) c.972C>A (p.Pro324=) c.*455C>A (n.*455C>A) c.1062C>A (p.Pro354=) c.*917C>A (n.*917C>A) c.1083C>A (p.Pro361=) c.945C>A (p.Pro315=) c.1140C>A (p.Pro380=) c.1263C>A (p.Pro421=) c.1255+2952C>A (n.1255+2952C>A) c.1132+6016C>A (n.1132+6016C>A) c.1134C>A (p.Pro378=) c.963C>A (p.Pro321=) | |
| 19 | g.13081687C>G | CA505651430 | NFIX | c.960C>G (p.Pro320=) c.1075+2952C>G (n.1075+2952C>G) c.773+6016C>G c.1086C>G (p.Pro362=) c.1110C>G (p.Pro370=) c.972C>G (p.Pro324=) c.*455C>G (n.*455C>G) c.1062C>G (p.Pro354=) c.*917C>G (n.*917C>G) c.1083C>G (p.Pro361=) c.945C>G (p.Pro315=) c.1140C>G (p.Pro380=) c.1263C>G (p.Pro421=) c.1255+2952C>G (n.1255+2952C>G) c.1132+6016C>G (n.1132+6016C>G) c.1134C>G (p.Pro378=) c.963C>G (p.Pro321=) | |
| 19 | g.13081687C>T | CA505651431 | NFIX | c.960C>T (p.Pro320=) c.1075+2952C>T (n.1075+2952C>T) c.773+6016C>T c.1086C>T (p.Pro362=) c.1110C>T (p.Pro370=) c.972C>T (p.Pro324=) c.*455C>T (n.*455C>T) c.1062C>T (p.Pro354=) c.*917C>T (n.*917C>T) c.1083C>T (p.Pro361=) c.945C>T (p.Pro315=) c.1140C>T (p.Pro380=) c.1263C>T (p.Pro421=) c.1255+2952C>T (n.1255+2952C>T) c.1132+6016C>T (n.1132+6016C>T) c.1134C>T (p.Pro378=) c.963C>T (p.Pro321=) | gnomAD v4 |
| 19 | g.13081687_13081688delinsTT | CA645604836 | NFIX | c.960_961delinsTT (p.Arg321Trp) c.1075+2952_1075+2953delinsTT (n.1075+2952_1075+2953delinsTT) c.773+6016_773+6017delinsTT c.1086_1087delinsTT (p.Arg363Trp) c.1110_1111delinsTT (p.Arg371Trp) c.972_973delinsTT (p.Arg325Trp) c.*455_*456delinsTT (n.*455_*456delinsTT) c.1062_1063delinsTT (p.Arg355Trp) c.*917_*918delinsTT (n.*917_*918delinsTT) c.1083_1084delinsTT (p.Arg362Trp) c.945_946delinsTT (p.Arg316Trp) c.1140_1141delinsTT (p.Arg381Trp) c.1263_1264delinsTT (p.Arg422Trp) c.1255+2952_1255+2953delinsTT (n.1255+2952_1255+2953delinsTT) c.1132+6016_1132+6017delinsTT (n.1132+6016_1132+6017delinsTT) c.1134_1135delinsTT (p.Arg379Trp) c.963_964delinsTT (p.Arg322Trp) | COSMIC COSMIC COSMIC |
| 19 | g.13081688C>A | CA505651432 | NFIX | c.961C>A (p.Arg321=) c.1075+2953C>A (n.1075+2953C>A) c.773+6017C>A c.1087C>A (p.Arg363=) c.1111C>A (p.Arg371=) c.973C>A (p.Arg325=) c.*456C>A (n.*456C>A) c.1063C>A (p.Arg355=) c.*918C>A (n.*918C>A) c.1084C>A (p.Arg362=) c.946C>A (p.Arg316=) c.1141C>A (p.Arg381=) c.1264C>A (p.Arg422=) c.1255+2953C>A (n.1255+2953C>A) c.1132+6017C>A (n.1132+6017C>A) c.1135C>A (p.Arg379=) c.964C>A (p.Arg322=) | |
| 19 | g.13081688C= | CA2323714184 | NFIX | c.961C= (p.Arg321=) c.1075+2953C= (n.1075+2953C=) c.773+6017C= c.1087C= (p.Arg363=) c.1111C= (p.Arg371=) c.973C= (p.Arg325=) c.*456C= (n.*456C=) c.1063C= (p.Arg355=) c.*918C= (n.*918C=) c.1084C= (p.Arg362=) c.946C= (p.Arg316=) c.1141C= (p.Arg381=) c.1264C= (p.Arg422=) c.1255+2953C= (n.1255+2953C=) c.1132+6017C= (n.1132+6017C=) c.1135C= (p.Arg379=) c.964C= (p.Arg322=) | |
| 19 | g.13081688C>G | CA9237138 | NFIX | c.961C>G (p.Arg321Gly) c.1075+2953C>G (n.1075+2953C>G) c.773+6017C>G c.1087C>G (p.Arg363Gly) c.1111C>G (p.Arg371Gly) c.973C>G (p.Arg325Gly) c.*456C>G (n.*456C>G) c.1063C>G (p.Arg355Gly) c.*918C>G (n.*918C>G) c.1084C>G (p.Arg362Gly) c.946C>G (p.Arg316Gly) c.1141C>G (p.Arg381Gly) c.1264C>G (p.Arg422Gly) c.1255+2953C>G (n.1255+2953C>G) c.1132+6017C>G (n.1132+6017C>G) c.1135C>G (p.Arg379Gly) c.964C>G (p.Arg322Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13081688C>T | CA404303563 | NFIX | c.961C>T (p.Arg321Trp) c.1075+2953C>T (n.1075+2953C>T) c.773+6017C>T c.1087C>T (p.Arg363Trp) c.1111C>T (p.Arg371Trp) c.973C>T (p.Arg325Trp) c.*456C>T (n.*456C>T) c.1063C>T (p.Arg355Trp) c.*918C>T (n.*918C>T) c.1084C>T (p.Arg362Trp) c.946C>T (p.Arg316Trp) c.1141C>T (p.Arg381Trp) c.1264C>T (p.Arg422Trp) c.1255+2953C>T (n.1255+2953C>T) c.1132+6017C>T (n.1132+6017C>T) c.1135C>T (p.Arg379Trp) c.964C>T (p.Arg322Trp) | dbSNP gnomAD v4 |
| 19 | g.13081689G>A | CA16608869 | NFIX | c.962G>A (p.Arg321Gln) c.1075+2954G>A (n.1075+2954G>A) c.773+6018G>A c.1088G>A (p.Arg363Gln) c.1112G>A (p.Arg371Gln) c.974G>A (p.Arg325Gln) c.*457G>A (n.*457G>A) c.1064G>A (p.Arg355Gln) c.*919G>A (n.*919G>A) c.1085G>A (p.Arg362Gln) c.947G>A (p.Arg316Gln) c.1142G>A (p.Arg381Gln) c.1265G>A (p.Arg422Gln) c.1255+2954G>A (n.1255+2954G>A) c.1132+6018G>A (n.1132+6018G>A) c.1136G>A (p.Arg379Gln) c.965G>A (p.Arg322Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13081689G>C | CA404303568 | NFIX | c.962G>C (p.Arg321Pro) c.1075+2954G>C (n.1075+2954G>C) c.773+6018G>C c.1088G>C (p.Arg363Pro) c.1112G>C (p.Arg371Pro) c.974G>C (p.Arg325Pro) c.*457G>C (n.*457G>C) c.1064G>C (p.Arg355Pro) c.*919G>C (n.*919G>C) c.1085G>C (p.Arg362Pro) c.947G>C (p.Arg316Pro) c.1142G>C (p.Arg381Pro) c.1265G>C (p.Arg422Pro) c.1255+2954G>C (n.1255+2954G>C) c.1132+6018G>C (n.1132+6018G>C) c.1136G>C (p.Arg379Pro) c.965G>C (p.Arg322Pro) | gnomAD v4 |
| 19 | g.13081689G= | CA2323714185 | NFIX | c.962G= (p.Arg321=) c.1075+2954G= (n.1075+2954G=) c.773+6018G= c.1088G= (p.Arg363=) c.1112G= (p.Arg371=) c.974G= (p.Arg325=) c.*457G= (n.*457G=) c.1064G= (p.Arg355=) c.*919G= (n.*919G=) c.1085G= (p.Arg362=) c.947G= (p.Arg316=) c.1142G= (p.Arg381=) c.1265G= (p.Arg422=) c.1255+2954G= (n.1255+2954G=) c.1132+6018G= (n.1132+6018G=) c.1136G= (p.Arg379=) c.965G= (p.Arg322=) | |
| 19 | g.13081689G>T | CA404303572 | NFIX | c.962G>T (p.Arg321Leu) c.1075+2954G>T (n.1075+2954G>T) c.773+6018G>T c.1088G>T (p.Arg363Leu) c.1112G>T (p.Arg371Leu) c.974G>T (p.Arg325Leu) c.*457G>T (n.*457G>T) c.1064G>T (p.Arg355Leu) c.*919G>T (n.*919G>T) c.1085G>T (p.Arg362Leu) c.947G>T (p.Arg316Leu) c.1142G>T (p.Arg381Leu) c.1265G>T (p.Arg422Leu) c.1255+2954G>T (n.1255+2954G>T) c.1132+6018G>T (n.1132+6018G>T) c.1136G>T (p.Arg379Leu) c.965G>T (p.Arg322Leu) | |
| 19 | g.13081691dup | CA2573320354 | NFIX | c.964dup (p.Ala322GlyfsTer?) c.1075+2956dup (n.1075+2956dup) c.773+6020dup c.1090dup (p.Ala364GlyfsTer?) c.1114dup (p.Ala372GlyfsTer?) c.976dup (p.Ala326GlyfsTer?) c.*459dup (n.*459dup) c.1066dup (p.Ala356GlyfsTer?) c.*921dup (n.*921dup) c.1087dup (p.Ala363GlyfsTer?) c.949dup (p.Ala317GlyfsTer?) c.1144dup (p.Ala382GlyfsTer?) c.1267dup (p.Ala423GlyfsTer?) c.1255+2956dup (n.1255+2956dup) c.1132+6020dup (n.1132+6020dup) c.1138dup (p.Ala380GlyfsTer?) c.967dup (p.Ala323GlyfsTer?) | ClinVar |
| 19 | g.13081691del | CA2735778069 | NFIX | c.964del (p.Ala322ProfsTer?) c.1075+2956del (n.1075+2956del) c.773+6020del c.1090del (p.Ala364ProfsTer?) c.1114del (p.Ala372ProfsTer?) c.976del (p.Ala326ProfsTer?) c.*459del (n.*459del) c.1066del (p.Ala356ProfsTer?) c.*921del (n.*921del) c.1087del (p.Ala363ProfsTer?) c.949del (p.Ala317ProfsTer?) c.1144del (p.Ala382ProfsTer?) c.1267del (p.Ala423ProfsTer?) c.1255+2956del (n.1255+2956del) c.1132+6020del (n.1132+6020del) c.1138del (p.Ala380ProfsTer?) c.967del (p.Ala323ProfsTer?) | dbSNP |
| 19 | g.13081690G>A | CA505651433 | NFIX | c.963G>A (p.Arg321=) c.1075+2955G>A (n.1075+2955G>A) c.773+6019G>A c.1089G>A (p.Arg363=) c.1113G>A (p.Arg371=) c.975G>A (p.Arg325=) c.*458G>A (n.*458G>A) c.1065G>A (p.Arg355=) c.*920G>A (n.*920G>A) c.1086G>A (p.Arg362=) c.948G>A (p.Arg316=) c.1143G>A (p.Arg381=) c.1266G>A (p.Arg422=) c.1255+2955G>A (n.1255+2955G>A) c.1132+6019G>A (n.1132+6019G>A) c.1137G>A (p.Arg379=) c.966G>A (p.Arg322=) | |
| 19 | g.13081690G>C | CA9237139 | NFIX | c.963G>C (p.Arg321=) c.1075+2955G>C (n.1075+2955G>C) c.773+6019G>C c.1089G>C (p.Arg363=) c.1113G>C (p.Arg371=) c.975G>C (p.Arg325=) c.*458G>C (n.*458G>C) c.1065G>C (p.Arg355=) c.*920G>C (n.*920G>C) c.1086G>C (p.Arg362=) c.948G>C (p.Arg316=) c.1143G>C (p.Arg381=) c.1266G>C (p.Arg422=) c.1255+2955G>C (n.1255+2955G>C) c.1132+6019G>C (n.1132+6019G>C) c.1137G>C (p.Arg379=) c.966G>C (p.Arg322=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13081690G= | CA2323714186 | NFIX | c.963G= (p.Arg321=) c.1075+2955G= (n.1075+2955G=) c.773+6019G= c.1089G= (p.Arg363=) c.1113G= (p.Arg371=) c.975G= (p.Arg325=) c.*458G= (n.*458G=) c.1065G= (p.Arg355=) c.*920G= (n.*920G=) c.1086G= (p.Arg362=) c.948G= (p.Arg316=) c.1143G= (p.Arg381=) c.1266G= (p.Arg422=) c.1255+2955G= (n.1255+2955G=) c.1132+6019G= (n.1132+6019G=) c.1137G= (p.Arg379=) c.966G= (p.Arg322=) | |
| 19 | g.13081690G>T | CA505651434 | NFIX | c.963G>T (p.Arg321=) c.1075+2955G>T (n.1075+2955G>T) c.773+6019G>T c.1089G>T (p.Arg363=) c.1113G>T (p.Arg371=) c.975G>T (p.Arg325=) c.*458G>T (n.*458G>T) c.1065G>T (p.Arg355=) c.*920G>T (n.*920G>T) c.1086G>T (p.Arg362=) c.948G>T (p.Arg316=) c.1143G>T (p.Arg381=) c.1266G>T (p.Arg422=) c.1255+2955G>T (n.1255+2955G>T) c.1132+6019G>T (n.1132+6019G>T) c.1137G>T (p.Arg379=) c.966G>T (p.Arg322=) | |
| 19 | g.13081691G>A | CA404303584 | NFIX | c.964G>A (p.Ala322Thr) c.1075+2956G>A (n.1075+2956G>A) c.773+6020G>A c.1090G>A (p.Ala364Thr) c.1114G>A (p.Ala372Thr) c.976G>A (p.Ala326Thr) c.*459G>A (n.*459G>A) c.1066G>A (p.Ala356Thr) c.*921G>A (n.*921G>A) c.1087G>A (p.Ala363Thr) c.949G>A (p.Ala317Thr) c.1144G>A (p.Ala382Thr) c.1267G>A (p.Ala423Thr) c.1255+2956G>A (n.1255+2956G>A) c.1132+6020G>A (n.1132+6020G>A) c.1138G>A (p.Ala380Thr) c.967G>A (p.Ala323Thr) | |
| 19 | g.13081691G>C | CA404303589 | NFIX | c.964G>C (p.Ala322Pro) c.1075+2956G>C (n.1075+2956G>C) c.773+6020G>C c.1090G>C (p.Ala364Pro) c.1114G>C (p.Ala372Pro) c.976G>C (p.Ala326Pro) c.*459G>C (n.*459G>C) c.1066G>C (p.Ala356Pro) c.*921G>C (n.*921G>C) c.1087G>C (p.Ala363Pro) c.949G>C (p.Ala317Pro) c.1144G>C (p.Ala382Pro) c.1267G>C (p.Ala423Pro) c.1255+2956G>C (n.1255+2956G>C) c.1132+6020G>C (n.1132+6020G>C) c.1138G>C (p.Ala380Pro) c.967G>C (p.Ala323Pro) | |
| 19 | g.13081691G>T | CA404303594 | NFIX | c.964G>T (p.Ala322Ser) c.1075+2956G>T (n.1075+2956G>T) c.773+6020G>T c.1090G>T (p.Ala364Ser) c.1114G>T (p.Ala372Ser) c.976G>T (p.Ala326Ser) c.*459G>T (n.*459G>T) c.1066G>T (p.Ala356Ser) c.*921G>T (n.*921G>T) c.1087G>T (p.Ala363Ser) c.949G>T (p.Ala317Ser) c.1144G>T (p.Ala382Ser) c.1267G>T (p.Ala423Ser) c.1255+2956G>T (n.1255+2956G>T) c.1132+6020G>T (n.1132+6020G>T) c.1138G>T (p.Ala380Ser) c.967G>T (p.Ala323Ser) | |
| 19 | g.13081692C>A | CA404303604 | NFIX | c.965C>A (p.Ala322Asp) c.1075+2957C>A (n.1075+2957C>A) c.773+6021C>A c.1091C>A (p.Ala364Asp) c.1115C>A (p.Ala372Asp) c.977C>A (p.Ala326Asp) c.*460C>A (n.*460C>A) c.1067C>A (p.Ala356Asp) c.*922C>A (n.*922C>A) c.1088C>A (p.Ala363Asp) c.950C>A (p.Ala317Asp) c.1145C>A (p.Ala382Asp) c.1268C>A (p.Ala423Asp) c.1255+2957C>A (n.1255+2957C>A) c.1132+6021C>A (n.1132+6021C>A) c.1139C>A (p.Ala380Asp) c.968C>A (p.Ala323Asp) | gnomAD v4 |
| 19 | g.13081692C>G | CA404303607 | NFIX | c.965C>G (p.Ala322Gly) c.1075+2957C>G (n.1075+2957C>G) c.773+6021C>G c.1091C>G (p.Ala364Gly) c.1115C>G (p.Ala372Gly) c.977C>G (p.Ala326Gly) c.*460C>G (n.*460C>G) c.1067C>G (p.Ala356Gly) c.*922C>G (n.*922C>G) c.1088C>G (p.Ala363Gly) c.950C>G (p.Ala317Gly) c.1145C>G (p.Ala382Gly) c.1268C>G (p.Ala423Gly) c.1255+2957C>G (n.1255+2957C>G) c.1132+6021C>G (n.1132+6021C>G) c.1139C>G (p.Ala380Gly) c.968C>G (p.Ala323Gly) |