Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.76112474_76112476delCA2969591ART3,NUP54c.1158_1160del (p.Ile387del)
c.*1465_*1467del (n.*1465_*1467del)
c.1026_1028del (p.Ile343del)
c.1125_1127del (p.Ile376del)
c.1059_1061del (p.Ile354del)
c.1092_1094del (p.Ile365del)
n.260_262del
n.356_358del
n.323_325del
n.565_567del
n.667_669del
c.1029_1031del (p.Ile344del)
c.1128_1130del (p.Ile377del)
c.1062_1064del (p.Ile355del)
c.1002_1004del (p.Ile335del)
c.1095_1097del (p.Ile366del)
n.2481_2483del
n.2922_2924del
c.996_998del (p.Ile333del)
c.963_965del (p.Ile322del)
c.936_938del (p.Ile313del)
c.903_905del (p.Ile302del)
c.870_872del (p.Ile291del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112474C>ACA439956030ART3,NUP54c.1158C>A (p.Ile386=)
c.*1463G>T (n.*1463G>T)
c.1026C>A (p.Ile342=)
c.1125C>A (p.Ile375=)
c.1059C>A (p.Ile353=)
c.1092C>A (p.Ile364=)
n.260C>A
n.356C>A
n.323C>A
n.565C>A
n.667C>A
c.1029C>A (p.Ile343=)
c.1128C>A (p.Ile376=)
c.1062C>A (p.Ile354=)
c.1002C>A (p.Ile334=)
c.1095C>A (p.Ile365=)
n.2481C>A
n.2922C>A
c.996C>A (p.Ile332=)
c.963C>A (p.Ile321=)
c.936C>A (p.Ile312=)
c.903C>A (p.Ile301=)
c.870C>A (p.Ile290=)
4g.76112474C>GCA357317219ART3,NUP54c.1158C>G (p.Ile386Met)
c.*1463G>C (n.*1463G>C)
c.1026C>G (p.Ile342Met)
c.1125C>G (p.Ile375Met)
c.1059C>G (p.Ile353Met)
c.1092C>G (p.Ile364Met)
n.260C>G
n.356C>G
n.323C>G
n.565C>G
n.667C>G
c.1029C>G (p.Ile343Met)
c.1128C>G (p.Ile376Met)
c.1062C>G (p.Ile354Met)
c.1002C>G (p.Ile334Met)
c.1095C>G (p.Ile365Met)
n.2481C>G
n.2922C>G
c.996C>G (p.Ile332Met)
c.963C>G (p.Ile321Met)
c.936C>G (p.Ile312Met)
c.903C>G (p.Ile301Met)
c.870C>G (p.Ile290Met)
 gnomAD v4
4g.76112474C>TCA439956031ART3,NUP54c.1158C>T (p.Ile386=)
c.*1463G>A (n.*1463G>A)
c.1026C>T (p.Ile342=)
c.1125C>T (p.Ile375=)
c.1059C>T (p.Ile353=)
c.1092C>T (p.Ile364=)
n.260C>T
n.356C>T
n.323C>T
n.565C>T
n.667C>T
c.1029C>T (p.Ile343=)
c.1128C>T (p.Ile376=)
c.1062C>T (p.Ile354=)
c.1002C>T (p.Ile334=)
c.1095C>T (p.Ile365=)
n.2481C>T
n.2922C>T
c.996C>T (p.Ile332=)
c.963C>T (p.Ile321=)
c.936C>T (p.Ile312=)
c.903C>T (p.Ile301=)
c.870C>T (p.Ile290=)
 COSMIC
4g.76112475A>CCA357317220ART3,NUP54c.1159A>C (p.Ile387Leu)
c.*1462T>G (n.*1462T>G)
c.1027A>C (p.Ile343Leu)
c.1126A>C (p.Ile376Leu)
c.1060A>C (p.Ile354Leu)
c.1093A>C (p.Ile365Leu)
n.261A>C
n.357A>C
n.324A>C
n.566A>C
n.668A>C
c.1030A>C (p.Ile344Leu)
c.1129A>C (p.Ile377Leu)
c.1063A>C (p.Ile355Leu)
c.1003A>C (p.Ile335Leu)
c.1096A>C (p.Ile366Leu)
n.2482A>C
n.2923A>C
c.997A>C (p.Ile333Leu)
c.964A>C (p.Ile322Leu)
c.937A>C (p.Ile313Leu)
c.904A>C (p.Ile302Leu)
c.871A>C (p.Ile291Leu)
4g.76112475A>GCA357317221ART3,NUP54c.1159A>G (p.Ile387Val)
c.*1462T>C (n.*1462T>C)
c.1027A>G (p.Ile343Val)
c.1126A>G (p.Ile376Val)
c.1060A>G (p.Ile354Val)
c.1093A>G (p.Ile365Val)
n.261A>G
n.357A>G
n.324A>G
n.566A>G
n.668A>G
c.1030A>G (p.Ile344Val)
c.1129A>G (p.Ile377Val)
c.1063A>G (p.Ile355Val)
c.1003A>G (p.Ile335Val)
c.1096A>G (p.Ile366Val)
n.2482A>G
n.2923A>G
c.997A>G (p.Ile333Val)
c.964A>G (p.Ile322Val)
c.937A>G (p.Ile313Val)
c.904A>G (p.Ile302Val)
c.871A>G (p.Ile291Val)
 gnomAD v4
4g.76112475A>TCA357317222ART3,NUP54c.1159A>T (p.Ile387Phe)
c.*1462T>A (n.*1462T>A)
c.1027A>T (p.Ile343Phe)
c.1126A>T (p.Ile376Phe)
c.1060A>T (p.Ile354Phe)
c.1093A>T (p.Ile365Phe)
n.261A>T
n.357A>T
n.324A>T
n.566A>T
n.668A>T
c.1030A>T (p.Ile344Phe)
c.1129A>T (p.Ile377Phe)
c.1063A>T (p.Ile355Phe)
c.1003A>T (p.Ile335Phe)
c.1096A>T (p.Ile366Phe)
n.2482A>T
n.2923A>T
c.997A>T (p.Ile333Phe)
c.964A>T (p.Ile322Phe)
c.937A>T (p.Ile313Phe)
c.904A>T (p.Ile302Phe)
c.871A>T (p.Ile291Phe)
4g.76112476T>ACA357317223ART3,NUP54c.1160T>A (p.Ile387Asn)
c.*1461A>T (n.*1461A>T)
c.1028T>A (p.Ile343Asn)
c.1127T>A (p.Ile376Asn)
c.1061T>A (p.Ile354Asn)
c.1094T>A (p.Ile365Asn)
n.262T>A
n.358T>A
n.325T>A
n.567T>A
n.669T>A
c.1031T>A (p.Ile344Asn)
c.1130T>A (p.Ile377Asn)
c.1064T>A (p.Ile355Asn)
c.1004T>A (p.Ile335Asn)
c.1097T>A (p.Ile366Asn)
n.2483T>A
n.2924T>A
c.998T>A (p.Ile333Asn)
c.965T>A (p.Ile322Asn)
c.938T>A (p.Ile313Asn)
c.905T>A (p.Ile302Asn)
c.872T>A (p.Ile291Asn)
4g.76112476T>CCA357317225ART3,NUP54c.1160T>C (p.Ile387Thr)
c.*1461A>G (n.*1461A>G)
c.1028T>C (p.Ile343Thr)
c.1127T>C (p.Ile376Thr)
c.1061T>C (p.Ile354Thr)
c.1094T>C (p.Ile365Thr)
n.262T>C
n.358T>C
n.325T>C
n.567T>C
n.669T>C
c.1031T>C (p.Ile344Thr)
c.1130T>C (p.Ile377Thr)
c.1064T>C (p.Ile355Thr)
c.1004T>C (p.Ile335Thr)
c.1097T>C (p.Ile366Thr)
n.2483T>C
n.2924T>C
c.998T>C (p.Ile333Thr)
c.965T>C (p.Ile322Thr)
c.938T>C (p.Ile313Thr)
c.905T>C (p.Ile302Thr)
c.872T>C (p.Ile291Thr)
4g.76112476T>GCA357317224ART3,NUP54c.1160T>G (p.Ile387Ser)
c.*1461A>C (n.*1461A>C)
c.1028T>G (p.Ile343Ser)
c.1127T>G (p.Ile376Ser)
c.1061T>G (p.Ile354Ser)
c.1094T>G (p.Ile365Ser)
n.262T>G
n.358T>G
n.325T>G
n.567T>G
n.669T>G
c.1031T>G (p.Ile344Ser)
c.1130T>G (p.Ile377Ser)
c.1064T>G (p.Ile355Ser)
c.1004T>G (p.Ile335Ser)
c.1097T>G (p.Ile366Ser)
n.2483T>G
n.2924T>G
c.998T>G (p.Ile333Ser)
c.965T>G (p.Ile322Ser)
c.938T>G (p.Ile313Ser)
c.905T>G (p.Ile302Ser)
c.872T>G (p.Ile291Ser)
4g.76112477T>ACA439956034ART3,NUP54c.1161T>A (p.Ile387=)
c.*1460A>T (n.*1460A>T)
c.1029T>A (p.Ile343=)
c.1128T>A (p.Ile376=)
c.1062T>A (p.Ile354=)
c.1095T>A (p.Ile365=)
n.263T>A
n.359T>A
n.326T>A
n.568T>A
n.670T>A
c.1032T>A (p.Ile344=)
c.1131T>A (p.Ile377=)
c.1065T>A (p.Ile355=)
c.1005T>A (p.Ile335=)
c.1098T>A (p.Ile366=)
n.2484T>A
n.2925T>A
c.999T>A (p.Ile333=)
c.966T>A (p.Ile322=)
c.939T>A (p.Ile313=)
c.906T>A (p.Ile302=)
c.873T>A (p.Ile291=)
4g.76112477T>CCA439956035ART3,NUP54c.1161T>C (p.Ile387=)
c.*1460A>G (n.*1460A>G)
c.1029T>C (p.Ile343=)
c.1128T>C (p.Ile376=)
c.1062T>C (p.Ile354=)
c.1095T>C (p.Ile365=)
n.263T>C
n.359T>C
n.326T>C
n.568T>C
n.670T>C
c.1032T>C (p.Ile344=)
c.1131T>C (p.Ile377=)
c.1065T>C (p.Ile355=)
c.1005T>C (p.Ile335=)
c.1098T>C (p.Ile366=)
n.2484T>C
n.2925T>C
c.999T>C (p.Ile333=)
c.966T>C (p.Ile322=)
c.939T>C (p.Ile313=)
c.906T>C (p.Ile302=)
c.873T>C (p.Ile291=)
4g.76112477T>GCA357317226ART3,NUP54c.1161T>G (p.Ile387Met)
c.*1460A>C (n.*1460A>C)
c.1029T>G (p.Ile343Met)
c.1128T>G (p.Ile376Met)
c.1062T>G (p.Ile354Met)
c.1095T>G (p.Ile365Met)
n.263T>G
n.359T>G
n.326T>G
n.568T>G
n.670T>G
c.1032T>G (p.Ile344Met)
c.1131T>G (p.Ile377Met)
c.1065T>G (p.Ile355Met)
c.1005T>G (p.Ile335Met)
c.1098T>G (p.Ile366Met)
n.2484T>G
n.2925T>G
c.999T>G (p.Ile333Met)
c.966T>G (p.Ile322Met)
c.939T>G (p.Ile313Met)
c.906T>G (p.Ile302Met)
c.873T>G (p.Ile291Met)
4g.76112478T>ACA357317227ART3,NUP54c.1162T>A (p.Leu388Ile)
c.*1459A>T (n.*1459A>T)
c.1030T>A (p.Leu344Ile)
c.1129T>A (p.Leu377Ile)
c.1063T>A (p.Leu355Ile)
c.1096T>A (p.Leu366Ile)
n.264T>A
n.360T>A
n.327T>A
n.569T>A
n.671T>A
c.1033T>A (p.Leu345Ile)
c.1132T>A (p.Leu378Ile)
c.1066T>A (p.Leu356Ile)
c.1006T>A (p.Leu336Ile)
c.1099T>A (p.Leu367Ile)
n.2485T>A
n.2926T>A
c.1000T>A (p.Leu334Ile)
c.967T>A (p.Leu323Ile)
c.940T>A (p.Leu314Ile)
c.907T>A (p.Leu303Ile)
c.874T>A (p.Leu292Ile)
4g.76112478T>CCA439956036ART3,NUP54c.1162T>C (p.Leu388=)
c.*1459A>G (n.*1459A>G)
c.1030T>C (p.Leu344=)
c.1129T>C (p.Leu377=)
c.1063T>C (p.Leu355=)
c.1096T>C (p.Leu366=)
n.264T>C
n.360T>C
n.327T>C
n.569T>C
n.671T>C
c.1033T>C (p.Leu345=)
c.1132T>C (p.Leu378=)
c.1066T>C (p.Leu356=)
c.1006T>C (p.Leu336=)
c.1099T>C (p.Leu367=)
n.2485T>C
n.2926T>C
c.1000T>C (p.Leu334=)
c.967T>C (p.Leu323=)
c.940T>C (p.Leu314=)
c.907T>C (p.Leu303=)
c.874T>C (p.Leu292=)
4g.76112478T>GCA357317228ART3,NUP54c.1162T>G (p.Leu388Val)
c.*1459A>C (n.*1459A>C)
c.1030T>G (p.Leu344Val)
c.1129T>G (p.Leu377Val)
c.1063T>G (p.Leu355Val)
c.1096T>G (p.Leu366Val)
n.264T>G
n.360T>G
n.327T>G
n.569T>G
n.671T>G
c.1033T>G (p.Leu345Val)
c.1132T>G (p.Leu378Val)
c.1066T>G (p.Leu356Val)
c.1006T>G (p.Leu336Val)
c.1099T>G (p.Leu367Val)
n.2485T>G
n.2926T>G
c.1000T>G (p.Leu334Val)
c.967T>G (p.Leu323Val)
c.940T>G (p.Leu314Val)
c.907T>G (p.Leu303Val)
c.874T>G (p.Leu292Val)
4g.76112479T>ACA357317229ART3,NUP54c.1163T>A (p.Leu388Ter)
c.*1458A>T (n.*1458A>T)
c.1031T>A (p.Leu344Ter)
c.1130T>A (p.Leu377Ter)
c.1064T>A (p.Leu355Ter)
c.1097T>A (p.Leu366Ter)
n.265T>A
n.361T>A
n.328T>A
n.570T>A
n.672T>A
c.1034T>A (p.Leu345Ter)
c.1133T>A (p.Leu378Ter)
c.1067T>A (p.Leu356Ter)
c.1007T>A (p.Leu336Ter)
c.1100T>A (p.Leu367Ter)
n.2486T>A
n.2927T>A
c.1001T>A (p.Leu334Ter)
c.968T>A (p.Leu323Ter)
c.941T>A (p.Leu314Ter)
c.908T>A (p.Leu303Ter)
c.875T>A (p.Leu292Ter)
4g.76112479T>CCA357317230ART3,NUP54c.1163T>C (p.Leu388Ser)
c.*1458A>G (n.*1458A>G)
c.1031T>C (p.Leu344Ser)
c.1130T>C (p.Leu377Ser)
c.1064T>C (p.Leu355Ser)
c.1097T>C (p.Leu366Ser)
n.265T>C
n.361T>C
n.328T>C
n.570T>C
n.672T>C
c.1034T>C (p.Leu345Ser)
c.1133T>C (p.Leu378Ser)
c.1067T>C (p.Leu356Ser)
c.1007T>C (p.Leu336Ser)
c.1100T>C (p.Leu367Ser)
n.2486T>C
n.2927T>C
c.1001T>C (p.Leu334Ser)
c.968T>C (p.Leu323Ser)
c.941T>C (p.Leu314Ser)
c.908T>C (p.Leu303Ser)
c.875T>C (p.Leu292Ser)
4g.76112479T>GCA357317231ART3,NUP54c.1163T>G (p.Leu388Ter)
c.*1458A>C (n.*1458A>C)
c.1031T>G (p.Leu344Ter)
c.1130T>G (p.Leu377Ter)
c.1064T>G (p.Leu355Ter)
c.1097T>G (p.Leu366Ter)
n.265T>G
n.361T>G
n.328T>G
n.570T>G
n.672T>G
c.1034T>G (p.Leu345Ter)
c.1133T>G (p.Leu378Ter)
c.1067T>G (p.Leu356Ter)
c.1007T>G (p.Leu336Ter)
c.1100T>G (p.Leu367Ter)
n.2486T>G
n.2927T>G
c.1001T>G (p.Leu334Ter)
c.968T>G (p.Leu323Ter)
c.941T>G (p.Leu314Ter)
c.908T>G (p.Leu303Ter)
c.875T>G (p.Leu292Ter)
4g.76112480A>CCA357317232ART3,NUP54c.1164A>C (p.Leu388Phe)
c.*1457T>G (n.*1457T>G)
c.1032A>C (p.Leu344Phe)
c.1131A>C (p.Leu377Phe)
c.1065A>C (p.Leu355Phe)
c.1098A>C (p.Leu366Phe)
n.266A>C
n.362A>C
n.329A>C
n.571A>C
n.673A>C
c.1035A>C (p.Leu345Phe)
c.1134A>C (p.Leu378Phe)
c.1068A>C (p.Leu356Phe)
c.1008A>C (p.Leu336Phe)
c.1101A>C (p.Leu367Phe)
n.2487A>C
n.2928A>C
c.1002A>C (p.Leu334Phe)
c.969A>C (p.Leu323Phe)
c.942A>C (p.Leu314Phe)
c.909A>C (p.Leu303Phe)
c.876A>C (p.Leu292Phe)
4g.76112480A>GCA439956040ART3,NUP54c.1164A>G (p.Leu388=)
c.*1457T>C (n.*1457T>C)
c.1032A>G (p.Leu344=)
c.1131A>G (p.Leu377=)
c.1065A>G (p.Leu355=)
c.1098A>G (p.Leu366=)
n.266A>G
n.362A>G
n.329A>G
n.571A>G
n.673A>G
c.1035A>G (p.Leu345=)
c.1134A>G (p.Leu378=)
c.1068A>G (p.Leu356=)
c.1008A>G (p.Leu336=)
c.1101A>G (p.Leu367=)
n.2487A>G
n.2928A>G
c.1002A>G (p.Leu334=)
c.969A>G (p.Leu323=)
c.942A>G (p.Leu314=)
c.909A>G (p.Leu303=)
c.876A>G (p.Leu292=)
4g.76112480A>TCA357317233ART3,NUP54c.1164A>T (p.Leu388Phe)
c.*1457T>A (n.*1457T>A)
c.1032A>T (p.Leu344Phe)
c.1131A>T (p.Leu377Phe)
c.1065A>T (p.Leu355Phe)
c.1098A>T (p.Leu366Phe)
n.266A>T
n.362A>T
n.329A>T
n.571A>T
n.673A>T
c.1035A>T (p.Leu345Phe)
c.1134A>T (p.Leu378Phe)
c.1068A>T (p.Leu356Phe)
c.1008A>T (p.Leu336Phe)
c.1101A>T (p.Leu367Phe)
n.2487A>T
n.2928A>T
c.1002A>T (p.Leu334Phe)
c.969A>T (p.Leu323Phe)
c.942A>T (p.Leu314Phe)
c.909A>T (p.Leu303Phe)
c.876A>T (p.Leu292Phe)
4g.76112481A>CCA357317234ART3,NUP54c.1165A>C (p.Ile389Leu)
c.*1456T>G (n.*1456T>G)
c.1033A>C (p.Ile345Leu)
c.1132A>C (p.Ile378Leu)
c.1066A>C (p.Ile356Leu)
c.1099A>C (p.Ile367Leu)
n.267A>C
n.363A>C
n.330A>C
n.572A>C
n.674A>C
c.1036A>C (p.Ile346Leu)
c.1135A>C (p.Ile379Leu)
c.1069A>C (p.Ile357Leu)
c.1009A>C (p.Ile337Leu)
c.1102A>C (p.Ile368Leu)
n.2488A>C
n.2929A>C
c.1003A>C (p.Ile335Leu)
c.970A>C (p.Ile324Leu)
c.943A>C (p.Ile315Leu)
c.910A>C (p.Ile304Leu)
c.877A>C (p.Ile293Leu)
4g.76112481A>GCA357317235ART3,NUP54c.1165A>G (p.Ile389Val)
c.*1456T>C (n.*1456T>C)
c.1033A>G (p.Ile345Val)
c.1132A>G (p.Ile378Val)
c.1066A>G (p.Ile356Val)
c.1099A>G (p.Ile367Val)
n.267A>G
n.363A>G
n.330A>G
n.572A>G
n.674A>G
c.1036A>G (p.Ile346Val)
c.1135A>G (p.Ile379Val)
c.1069A>G (p.Ile357Val)
c.1009A>G (p.Ile337Val)
c.1102A>G (p.Ile368Val)
n.2488A>G
n.2929A>G
c.1003A>G (p.Ile335Val)
c.970A>G (p.Ile324Val)
c.943A>G (p.Ile315Val)
c.910A>G (p.Ile304Val)
c.877A>G (p.Ile293Val)
4g.76112481A>TCA357317236ART3,NUP54c.1165A>T (p.Ile389Phe)
c.*1456T>A (n.*1456T>A)
c.1033A>T (p.Ile345Phe)
c.1132A>T (p.Ile378Phe)
c.1066A>T (p.Ile356Phe)
c.1099A>T (p.Ile367Phe)
n.267A>T
n.363A>T
n.330A>T
n.572A>T
n.674A>T
c.1036A>T (p.Ile346Phe)
c.1135A>T (p.Ile379Phe)
c.1069A>T (p.Ile357Phe)
c.1009A>T (p.Ile337Phe)
c.1102A>T (p.Ile368Phe)
n.2488A>T
n.2929A>T
c.1003A>T (p.Ile335Phe)
c.970A>T (p.Ile324Phe)
c.943A>T (p.Ile315Phe)
c.910A>T (p.Ile304Phe)
c.877A>T (p.Ile293Phe)
4g.76112482T>ACA357317238ART3,NUP54c.1166T>A (p.Ile389Asn)
c.*1455A>T (n.*1455A>T)
c.1034T>A (p.Ile345Asn)
c.1133T>A (p.Ile378Asn)
c.1067T>A (p.Ile356Asn)
c.1100T>A (p.Ile367Asn)
n.268T>A
n.364T>A
n.331T>A
n.573T>A
n.675T>A
c.1037T>A (p.Ile346Asn)
c.1136T>A (p.Ile379Asn)
c.1070T>A (p.Ile357Asn)
c.1010T>A (p.Ile337Asn)
c.1103T>A (p.Ile368Asn)
n.2489T>A
n.2930T>A
c.1004T>A (p.Ile335Asn)
c.971T>A (p.Ile324Asn)
c.944T>A (p.Ile315Asn)
c.911T>A (p.Ile304Asn)
c.878T>A (p.Ile293Asn)
4g.76112482T>CCA357317239ART3,NUP54c.1166T>C (p.Ile389Thr)
c.*1455A>G (n.*1455A>G)
c.1034T>C (p.Ile345Thr)
c.1133T>C (p.Ile378Thr)
c.1067T>C (p.Ile356Thr)
c.1100T>C (p.Ile367Thr)
n.268T>C
n.364T>C
n.331T>C
n.573T>C
n.675T>C
c.1037T>C (p.Ile346Thr)
c.1136T>C (p.Ile379Thr)
c.1070T>C (p.Ile357Thr)
c.1010T>C (p.Ile337Thr)
c.1103T>C (p.Ile368Thr)
n.2489T>C
n.2930T>C
c.1004T>C (p.Ile335Thr)
c.971T>C (p.Ile324Thr)
c.944T>C (p.Ile315Thr)
c.911T>C (p.Ile304Thr)
c.878T>C (p.Ile293Thr)
4g.76112482T>GCA357317237ART3,NUP54c.1166T>G (p.Ile389Ser)
c.*1455A>C (n.*1455A>C)
c.1034T>G (p.Ile345Ser)
c.1133T>G (p.Ile378Ser)
c.1067T>G (p.Ile356Ser)
c.1100T>G (p.Ile367Ser)
n.268T>G
n.364T>G
n.331T>G
n.573T>G
n.675T>G
c.1037T>G (p.Ile346Ser)
c.1136T>G (p.Ile379Ser)
c.1070T>G (p.Ile357Ser)
c.1010T>G (p.Ile337Ser)
c.1103T>G (p.Ile368Ser)
n.2489T>G
n.2930T>G
c.1004T>G (p.Ile335Ser)
c.971T>G (p.Ile324Ser)
c.944T>G (p.Ile315Ser)
c.911T>G (p.Ile304Ser)
c.878T>G (p.Ile293Ser)
4g.76112483C>ACA439956042ART3,NUP54c.1167C>A (p.Ile389=)
c.*1454G>T (n.*1454G>T)
c.1035C>A (p.Ile345=)
c.1134C>A (p.Ile378=)
c.1068C>A (p.Ile356=)
c.1101C>A (p.Ile367=)
n.269C>A
n.365C>A
n.332C>A
n.574C>A
n.676C>A
c.1038C>A (p.Ile346=)
c.1137C>A (p.Ile379=)
c.1071C>A (p.Ile357=)
c.1011C>A (p.Ile337=)
c.1104C>A (p.Ile368=)
n.2490C>A
n.2931C>A
c.1005C>A (p.Ile335=)
c.972C>A (p.Ile324=)
c.945C>A (p.Ile315=)
c.912C>A (p.Ile304=)
c.879C>A (p.Ile293=)
4g.76112483C>GCA357317240ART3,NUP54c.1167C>G (p.Ile389Met)
c.*1454G>C (n.*1454G>C)
c.1035C>G (p.Ile345Met)
c.1134C>G (p.Ile378Met)
c.1068C>G (p.Ile356Met)
c.1101C>G (p.Ile367Met)
n.269C>G
n.365C>G
n.332C>G
n.574C>G
n.676C>G
c.1038C>G (p.Ile346Met)
c.1137C>G (p.Ile379Met)
c.1071C>G (p.Ile357Met)
c.1011C>G (p.Ile337Met)
c.1104C>G (p.Ile368Met)
n.2490C>G
n.2931C>G
c.1005C>G (p.Ile335Met)
c.972C>G (p.Ile324Met)
c.945C>G (p.Ile315Met)
c.912C>G (p.Ile304Met)
c.879C>G (p.Ile293Met)
4g.76112483C>TCA439956043ART3,NUP54c.1167C>T (p.Ile389=)
c.*1454G>A (n.*1454G>A)
c.1035C>T (p.Ile345=)
c.1134C>T (p.Ile378=)
c.1068C>T (p.Ile356=)
c.1101C>T (p.Ile367=)
n.269C>T
n.365C>T
n.332C>T
n.574C>T
n.676C>T
c.1038C>T (p.Ile346=)
c.1137C>T (p.Ile379=)
c.1071C>T (p.Ile357=)
c.1011C>T (p.Ile337=)
c.1104C>T (p.Ile368=)
n.2490C>T
n.2931C>T
c.1005C>T (p.Ile335=)
c.972C>T (p.Ile324=)
c.945C>T (p.Ile315=)
c.912C>T (p.Ile304=)
c.879C>T (p.Ile293=)
4g.76112484A>CCA357317241ART3,NUP54c.1168A>C (p.Ser390Arg)
c.*1453T>G (n.*1453T>G)
c.1036A>C (p.Ser346Arg)
c.1135A>C (p.Ser379Arg)
c.1069A>C (p.Ser357Arg)
c.1102A>C (p.Ser368Arg)
n.270A>C
n.366A>C
n.333A>C
n.575A>C
n.677A>C
c.1039A>C (p.Ser347Arg)
c.1138A>C (p.Ser380Arg)
c.1072A>C (p.Ser358Arg)
c.1012A>C (p.Ser338Arg)
c.1105A>C (p.Ser369Arg)
n.2491A>C
n.2932A>C
c.1006A>C (p.Ser336Arg)
c.973A>C (p.Ser325Arg)
c.946A>C (p.Ser316Arg)
c.913A>C (p.Ser305Arg)
c.880A>C (p.Ser294Arg)
4g.76112484A>GCA357317242ART3,NUP54c.1168A>G (p.Ser390Gly)
c.*1453T>C (n.*1453T>C)
c.1036A>G (p.Ser346Gly)
c.1135A>G (p.Ser379Gly)
c.1069A>G (p.Ser357Gly)
c.1102A>G (p.Ser368Gly)
n.270A>G
n.366A>G
n.333A>G
n.575A>G
n.677A>G
c.1039A>G (p.Ser347Gly)
c.1138A>G (p.Ser380Gly)
c.1072A>G (p.Ser358Gly)
c.1012A>G (p.Ser338Gly)
c.1105A>G (p.Ser369Gly)
n.2491A>G
n.2932A>G
c.1006A>G (p.Ser336Gly)
c.973A>G (p.Ser325Gly)
c.946A>G (p.Ser316Gly)
c.913A>G (p.Ser305Gly)
c.880A>G (p.Ser294Gly)
4g.76112484A>TCA357317243ART3,NUP54c.1168A>T (p.Ser390Cys)
c.*1453T>A (n.*1453T>A)
c.1036A>T (p.Ser346Cys)
c.1135A>T (p.Ser379Cys)
c.1069A>T (p.Ser357Cys)
c.1102A>T (p.Ser368Cys)
n.270A>T
n.366A>T
n.333A>T
n.575A>T
n.677A>T
c.1039A>T (p.Ser347Cys)
c.1138A>T (p.Ser380Cys)
c.1072A>T (p.Ser358Cys)
c.1012A>T (p.Ser338Cys)
c.1105A>T (p.Ser369Cys)
n.2491A>T
n.2932A>T
c.1006A>T (p.Ser336Cys)
c.973A>T (p.Ser325Cys)
c.946A>T (p.Ser316Cys)
c.913A>T (p.Ser305Cys)
c.880A>T (p.Ser294Cys)
4g.76112485G>ACA357317244ART3,NUP54c.1169G>A (p.Ser390Asn)
c.*1452C>T (n.*1452C>T)
c.1037G>A (p.Ser346Asn)
c.1136G>A (p.Ser379Asn)
c.1070G>A (p.Ser357Asn)
c.1103G>A (p.Ser368Asn)
n.271G>A
n.367G>A
n.334G>A
n.576G>A
n.678G>A
c.1040G>A (p.Ser347Asn)
c.1139G>A (p.Ser380Asn)
c.1073G>A (p.Ser358Asn)
c.1013G>A (p.Ser338Asn)
c.1106G>A (p.Ser369Asn)
n.2492G>A
n.2933G>A
c.1007G>A (p.Ser336Asn)
c.974G>A (p.Ser325Asn)
c.947G>A (p.Ser316Asn)
c.914G>A (p.Ser305Asn)
c.881G>A (p.Ser294Asn)
4g.76112485G>CCA357317245ART3,NUP54c.1169G>C (p.Ser390Thr)
c.*1452C>G (n.*1452C>G)
c.1037G>C (p.Ser346Thr)
c.1136G>C (p.Ser379Thr)
c.1070G>C (p.Ser357Thr)
c.1103G>C (p.Ser368Thr)
n.271G>C
n.367G>C
n.334G>C
n.576G>C
n.678G>C
c.1040G>C (p.Ser347Thr)
c.1139G>C (p.Ser380Thr)
c.1073G>C (p.Ser358Thr)
c.1013G>C (p.Ser338Thr)
c.1106G>C (p.Ser369Thr)
n.2492G>C
n.2933G>C
c.1007G>C (p.Ser336Thr)
c.974G>C (p.Ser325Thr)
c.947G>C (p.Ser316Thr)
c.914G>C (p.Ser305Thr)
c.881G>C (p.Ser294Thr)
4g.76112485G=CA1469471058ART3,NUP54c.1169G= (p.Ser390=)
c.*1452C= (n.*1452C=)
c.1037G= (p.Ser346=)
c.1136G= (p.Ser379=)
c.1070G= (p.Ser357=)
c.1103G= (p.Ser368=)
n.271G=
n.367G=
n.334G=
n.576G=
n.678G=
c.1040G= (p.Ser347=)
c.1139G= (p.Ser380=)
c.1073G= (p.Ser358=)
c.1013G= (p.Ser338=)
c.1106G= (p.Ser369=)
n.2492G=
n.2933G=
c.1007G= (p.Ser336=)
c.974G= (p.Ser325=)
c.947G= (p.Ser316=)
c.914G= (p.Ser305=)
c.881G= (p.Ser294=)
4g.76112485G>TCA357317246ART3,NUP54c.1169G>T (p.Ser390Ile)
c.*1452C>A (n.*1452C>A)
c.1037G>T (p.Ser346Ile)
c.1136G>T (p.Ser379Ile)
c.1070G>T (p.Ser357Ile)
c.1103G>T (p.Ser368Ile)
n.271G>T
n.367G>T
n.334G>T
n.576G>T
n.678G>T
c.1040G>T (p.Ser347Ile)
c.1139G>T (p.Ser380Ile)
c.1073G>T (p.Ser358Ile)
c.1013G>T (p.Ser338Ile)
c.1106G>T (p.Ser369Ile)
n.2492G>T
n.2933G>T
c.1007G>T (p.Ser336Ile)
c.974G>T (p.Ser325Ile)
c.947G>T (p.Ser316Ile)
c.914G>T (p.Ser305Ile)
c.881G>T (p.Ser294Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.76112486T>ACA357317247ART3,NUP54c.1170T>A (p.Ser390Arg)
c.*1451A>T (n.*1451A>T)
c.1038T>A (p.Ser346Arg)
c.1137T>A (p.Ser379Arg)
c.1071T>A (p.Ser357Arg)
c.1104T>A (p.Ser368Arg)
n.272T>A
n.368T>A
n.335T>A
n.577T>A
n.679T>A
c.1041T>A (p.Ser347Arg)
c.1140T>A (p.Ser380Arg)
c.1074T>A (p.Ser358Arg)
c.1014T>A (p.Ser338Arg)
c.1107T>A (p.Ser369Arg)
n.2493T>A
n.2934T>A
c.1008T>A (p.Ser336Arg)
c.975T>A (p.Ser325Arg)
c.948T>A (p.Ser316Arg)
c.915T>A (p.Ser305Arg)
c.882T>A (p.Ser294Arg)
4g.76112486T>CCA439956046ART3,NUP54c.1170T>C (p.Ser390=)
c.*1451A>G (n.*1451A>G)
c.1038T>C (p.Ser346=)
c.1137T>C (p.Ser379=)
c.1071T>C (p.Ser357=)
c.1104T>C (p.Ser368=)
n.272T>C
n.368T>C
n.335T>C
n.577T>C
n.679T>C
c.1041T>C (p.Ser347=)
c.1140T>C (p.Ser380=)
c.1074T>C (p.Ser358=)
c.1014T>C (p.Ser338=)
c.1107T>C (p.Ser369=)
n.2493T>C
n.2934T>C
c.1008T>C (p.Ser336=)
c.975T>C (p.Ser325=)
c.948T>C (p.Ser316=)
c.915T>C (p.Ser305=)
c.882T>C (p.Ser294=)
4g.76112486T>GCA357317248ART3,NUP54c.1170T>G (p.Ser390Arg)
c.*1451A>C (n.*1451A>C)
c.1038T>G (p.Ser346Arg)
c.1137T>G (p.Ser379Arg)
c.1071T>G (p.Ser357Arg)
c.1104T>G (p.Ser368Arg)
n.272T>G
n.368T>G
n.335T>G
n.577T>G
n.679T>G
c.1041T>G (p.Ser347Arg)
c.1140T>G (p.Ser380Arg)
c.1074T>G (p.Ser358Arg)
c.1014T>G (p.Ser338Arg)
c.1107T>G (p.Ser369Arg)
n.2493T>G
n.2934T>G
c.1008T>G (p.Ser336Arg)
c.975T>G (p.Ser325Arg)
c.948T>G (p.Ser316Arg)
c.915T>G (p.Ser305Arg)
c.882T>G (p.Ser294Arg)
4g.76112487G>ACA357317249ART3,NUP54c.1171G>A (p.Val391Ile)
c.*1450C>T (n.*1450C>T)
c.1039G>A (p.Val347Ile)
c.1138G>A (p.Val380Ile)
c.1072G>A (p.Val358Ile)
c.1105G>A (p.Val369Ile)
n.273G>A
n.369G>A
n.336G>A
n.578G>A
n.680G>A
c.1042G>A (p.Val348Ile)
c.1141G>A (p.Val381Ile)
c.1075G>A (p.Val359Ile)
c.1015G>A (p.Val339Ile)
c.1108G>A (p.Val370Ile)
n.2494G>A
n.2935G>A
c.1009G>A (p.Val337Ile)
c.976G>A (p.Val326Ile)
c.949G>A (p.Val317Ile)
c.916G>A (p.Val306Ile)
c.883G>A (p.Val295Ile)
4g.76112487G>CCA357317250ART3,NUP54c.1171G>C (p.Val391Leu)
c.*1450C>G (n.*1450C>G)
c.1039G>C (p.Val347Leu)
c.1138G>C (p.Val380Leu)
c.1072G>C (p.Val358Leu)
c.1105G>C (p.Val369Leu)
n.273G>C
n.369G>C
n.336G>C
n.578G>C
n.680G>C
c.1042G>C (p.Val348Leu)
c.1141G>C (p.Val381Leu)
c.1075G>C (p.Val359Leu)
c.1015G>C (p.Val339Leu)
c.1108G>C (p.Val370Leu)
n.2494G>C
n.2935G>C
c.1009G>C (p.Val337Leu)
c.976G>C (p.Val326Leu)
c.949G>C (p.Val317Leu)
c.916G>C (p.Val306Leu)
c.883G>C (p.Val295Leu)
4g.76112487G>TCA357317251ART3,NUP54c.1171G>T (p.Val391Phe)
c.*1450C>A (n.*1450C>A)
c.1039G>T (p.Val347Phe)
c.1138G>T (p.Val380Phe)
c.1072G>T (p.Val358Phe)
c.1105G>T (p.Val369Phe)
n.273G>T
n.369G>T
n.336G>T
n.578G>T
n.680G>T
c.1042G>T (p.Val348Phe)
c.1141G>T (p.Val381Phe)
c.1075G>T (p.Val359Phe)
c.1015G>T (p.Val339Phe)
c.1108G>T (p.Val370Phe)
n.2494G>T
n.2935G>T
c.1009G>T (p.Val337Phe)
c.976G>T (p.Val326Phe)
c.949G>T (p.Val317Phe)
c.916G>T (p.Val306Phe)
c.883G>T (p.Val295Phe)
4g.76112487_76112488delinsGTCA1469471061ART3,NUP54c.1171_1172delinsGT (p.Val391=)
c.*1449_*1450delinsAC (n.*1449_*1450delinsAC)
c.1039_1040delinsGT (p.Val347=)
c.1138_1139delinsGT (p.Val380=)
c.1072_1073delinsGT (p.Val358=)
c.1105_1106delinsGT (p.Val369=)
n.273_274delinsGT
n.369_370delinsGT
n.336_337delinsGT
n.578_579delinsGT
n.680_681delinsGT
c.1042_1043delinsGT (p.Val348=)
c.1141_1142delinsGT (p.Val381=)
c.1075_1076delinsGT (p.Val359=)
c.1015_1016delinsGT (p.Val339=)
c.1108_1109delinsGT (p.Val370=)
n.2494_2495delinsGT
n.2935_2936delinsGT
c.1009_1010delinsGT (p.Val337=)
c.976_977delinsGT (p.Val326=)
c.949_950delinsGT (p.Val317=)
c.916_917delinsGT (p.Val306=)
c.883_884delinsGT (p.Val295=)
4g.76112488T>ACA357317254ART3,NUP54c.1172T>A (p.Val391Asp)
c.*1449A>T (n.*1449A>T)
c.1040T>A (p.Val347Asp)
c.1139T>A (p.Val380Asp)
c.1073T>A (p.Val358Asp)
c.1106T>A (p.Val369Asp)
n.274T>A
n.370T>A
n.337T>A
n.579T>A
n.681T>A
c.1043T>A (p.Val348Asp)
c.1142T>A (p.Val381Asp)
c.1076T>A (p.Val359Asp)
c.1016T>A (p.Val339Asp)
c.1109T>A (p.Val370Asp)
n.2495T>A
n.2936T>A
c.1010T>A (p.Val337Asp)
c.977T>A (p.Val326Asp)
c.950T>A (p.Val317Asp)
c.917T>A (p.Val306Asp)
c.884T>A (p.Val295Asp)
4g.76112488T>CCA357317253ART3,NUP54c.1172T>C (p.Val391Ala)
c.*1449A>G (n.*1449A>G)
c.1040T>C (p.Val347Ala)
c.1139T>C (p.Val380Ala)
c.1073T>C (p.Val358Ala)
c.1106T>C (p.Val369Ala)
n.274T>C
n.370T>C
n.337T>C
n.579T>C
n.681T>C
c.1043T>C (p.Val348Ala)
c.1142T>C (p.Val381Ala)
c.1076T>C (p.Val359Ala)
c.1016T>C (p.Val339Ala)
c.1109T>C (p.Val370Ala)
n.2495T>C
n.2936T>C
c.1010T>C (p.Val337Ala)
c.977T>C (p.Val326Ala)
c.950T>C (p.Val317Ala)
c.917T>C (p.Val306Ala)
c.884T>C (p.Val295Ala)
 gnomAD v4
4g.76112488T>GCA357317252ART3,NUP54c.1172T>G (p.Val391Gly)
c.*1449A>C (n.*1449A>C)
c.1040T>G (p.Val347Gly)
c.1139T>G (p.Val380Gly)
c.1073T>G (p.Val358Gly)
c.1106T>G (p.Val369Gly)
n.274T>G
n.370T>G
n.337T>G
n.579T>G
n.681T>G
c.1043T>G (p.Val348Gly)
c.1142T>G (p.Val381Gly)
c.1076T>G (p.Val359Gly)
c.1016T>G (p.Val339Gly)
c.1109T>G (p.Val370Gly)
n.2495T>G
n.2936T>G
c.1010T>G (p.Val337Gly)
c.977T>G (p.Val326Gly)
c.950T>G (p.Val317Gly)
c.917T>G (p.Val306Gly)
c.884T>G (p.Val295Gly)
 dbSNP
4g.76112488T=CA1469471064ART3,NUP54c.1172T= (p.Val391=)
c.*1449A= (n.*1449A=)
c.1040T= (p.Val347=)
c.1139T= (p.Val380=)
c.1073T= (p.Val358=)
c.1106T= (p.Val369=)
n.274T=
n.370T=
n.337T=
n.579T=
n.681T=
c.1043T= (p.Val348=)
c.1142T= (p.Val381=)
c.1076T= (p.Val359=)
c.1016T= (p.Val339=)
c.1109T= (p.Val370=)
n.2495T=
n.2936T=
c.1010T= (p.Val337=)
c.977T= (p.Val326=)
c.950T= (p.Val317=)
c.917T= (p.Val306=)
c.884T= (p.Val295=)
4g.76112490delCA2969592ART3,NUP54c.1174del (p.Ser392LeufsTer3)
c.*1449del (n.*1449del)
c.1042del (p.Ser348LeufsTer3)
c.1141del (p.Ser381LeufsTer3)
c.1075del (p.Ser359LeufsTer3)
c.1108del (p.Ser370LeufsTer3)
n.276del
n.372del
n.339del
n.581del
n.683del
c.1045del (p.Ser349LeufsTer3)
c.1144del (p.Ser382LeufsTer3)
c.1078del (p.Ser360LeufsTer3)
c.1018del (p.Ser340LeufsTer3)
c.1111del (p.Ser371LeufsTer3)
n.2497del
n.2938del
c.1012del (p.Ser338LeufsTer3)
c.979del (p.Ser327LeufsTer3)
c.952del (p.Ser318LeufsTer3)
c.919del (p.Ser307LeufsTer3)
c.886del (p.Ser296LeufsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112489T>ACA439956052ART3,NUP54c.1173T>A (p.Val391=)
c.*1448A>T (n.*1448A>T)
c.1041T>A (p.Val347=)
c.1140T>A (p.Val380=)
c.1074T>A (p.Val358=)
c.1107T>A (p.Val369=)
n.275T>A
n.371T>A
n.338T>A
n.580T>A
n.682T>A
c.1044T>A (p.Val348=)
c.1143T>A (p.Val381=)
c.1077T>A (p.Val359=)
c.1017T>A (p.Val339=)
c.1110T>A (p.Val370=)
n.2496T>A
n.2937T>A
c.1011T>A (p.Val337=)
c.978T>A (p.Val326=)
c.951T>A (p.Val317=)
c.918T>A (p.Val306=)
c.885T>A (p.Val295=)
4g.76112489T>CCA439956050ART3,NUP54c.1173T>C (p.Val391=)
c.*1448A>G (n.*1448A>G)
c.1041T>C (p.Val347=)
c.1140T>C (p.Val380=)
c.1074T>C (p.Val358=)
c.1107T>C (p.Val369=)
n.275T>C
n.371T>C
n.338T>C
n.580T>C
n.682T>C
c.1044T>C (p.Val348=)
c.1143T>C (p.Val381=)
c.1077T>C (p.Val359=)
c.1017T>C (p.Val339=)
c.1110T>C (p.Val370=)
n.2496T>C
n.2937T>C
c.1011T>C (p.Val337=)
c.978T>C (p.Val326=)
c.951T>C (p.Val317=)
c.918T>C (p.Val306=)
c.885T>C (p.Val295=)
4g.76112489T>GCA439956051ART3,NUP54c.1173T>G (p.Val391=)
c.*1448A>C (n.*1448A>C)
c.1041T>G (p.Val347=)
c.1140T>G (p.Val380=)
c.1074T>G (p.Val358=)
c.1107T>G (p.Val369=)
n.275T>G
n.371T>G
n.338T>G
n.580T>G
n.682T>G
c.1044T>G (p.Val348=)
c.1143T>G (p.Val381=)
c.1077T>G (p.Val359=)
c.1017T>G (p.Val339=)
c.1110T>G (p.Val370=)
n.2496T>G
n.2937T>G
c.1011T>G (p.Val337=)
c.978T>G (p.Val326=)
c.951T>G (p.Val317=)
c.918T>G (p.Val306=)
c.885T>G (p.Val295=)
4g.76112490T>ACA357317255ART3,NUP54c.1174T>A (p.Ser392Thr)
c.*1447A>T (n.*1447A>T)
c.1042T>A (p.Ser348Thr)
c.1141T>A (p.Ser381Thr)
c.1075T>A (p.Ser359Thr)
c.1108T>A (p.Ser370Thr)
n.276T>A
n.372T>A
n.339T>A
n.581T>A
n.683T>A
c.1045T>A (p.Ser349Thr)
c.1144T>A (p.Ser382Thr)
c.1078T>A (p.Ser360Thr)
c.1018T>A (p.Ser340Thr)
c.1111T>A (p.Ser371Thr)
n.2497T>A
n.2938T>A
c.1012T>A (p.Ser338Thr)
c.979T>A (p.Ser327Thr)
c.952T>A (p.Ser318Thr)
c.919T>A (p.Ser307Thr)
c.886T>A (p.Ser296Thr)
4g.76112490T>CCA357317256ART3,NUP54c.1174T>C (p.Ser392Pro)
c.*1447A>G (n.*1447A>G)
c.1042T>C (p.Ser348Pro)
c.1141T>C (p.Ser381Pro)
c.1075T>C (p.Ser359Pro)
c.1108T>C (p.Ser370Pro)
n.276T>C
n.372T>C
n.339T>C
n.581T>C
n.683T>C
c.1045T>C (p.Ser349Pro)
c.1144T>C (p.Ser382Pro)
c.1078T>C (p.Ser360Pro)
c.1018T>C (p.Ser340Pro)
c.1111T>C (p.Ser371Pro)
n.2497T>C
n.2938T>C
c.1012T>C (p.Ser338Pro)
c.979T>C (p.Ser327Pro)
c.952T>C (p.Ser318Pro)
c.919T>C (p.Ser307Pro)
c.886T>C (p.Ser296Pro)
 gnomAD v4
4g.76112490T>GCA357317257ART3,NUP54c.1174T>G (p.Ser392Ala)
c.*1447A>C (n.*1447A>C)
c.1042T>G (p.Ser348Ala)
c.1141T>G (p.Ser381Ala)
c.1075T>G (p.Ser359Ala)
c.1108T>G (p.Ser370Ala)
n.276T>G
n.372T>G
n.339T>G
n.581T>G
n.683T>G
c.1045T>G (p.Ser349Ala)
c.1144T>G (p.Ser382Ala)
c.1078T>G (p.Ser360Ala)
c.1018T>G (p.Ser340Ala)
c.1111T>G (p.Ser371Ala)
n.2497T>G
n.2938T>G
c.1012T>G (p.Ser338Ala)
c.979T>G (p.Ser327Ala)
c.952T>G (p.Ser318Ala)
c.919T>G (p.Ser307Ala)
c.886T>G (p.Ser296Ala)
4g.76112491C>ACA357317258ART3,NUP54c.1175C>A (p.Ser392Tyr)
c.*1446G>T (n.*1446G>T)
c.1043C>A (p.Ser348Tyr)
c.1142C>A (p.Ser381Tyr)
c.1076C>A (p.Ser359Tyr)
c.1109C>A (p.Ser370Tyr)
n.277C>A
n.373C>A
n.340C>A
n.582C>A
n.684C>A
c.1046C>A (p.Ser349Tyr)
c.1145C>A (p.Ser382Tyr)
c.1079C>A (p.Ser360Tyr)
c.1019C>A (p.Ser340Tyr)
c.1112C>A (p.Ser371Tyr)
n.2498C>A
n.2939C>A
c.1013C>A (p.Ser338Tyr)
c.980C>A (p.Ser327Tyr)
c.953C>A (p.Ser318Tyr)
c.920C>A (p.Ser307Tyr)
c.887C>A (p.Ser296Tyr)
4g.76112491C>GCA357317259ART3,NUP54c.1175C>G (p.Ser392Cys)
c.*1446G>C (n.*1446G>C)
c.1043C>G (p.Ser348Cys)
c.1142C>G (p.Ser381Cys)
c.1076C>G (p.Ser359Cys)
c.1109C>G (p.Ser370Cys)
n.277C>G
n.373C>G
n.340C>G
n.582C>G
n.684C>G
c.1046C>G (p.Ser349Cys)
c.1145C>G (p.Ser382Cys)
c.1079C>G (p.Ser360Cys)
c.1019C>G (p.Ser340Cys)
c.1112C>G (p.Ser371Cys)
n.2498C>G
n.2939C>G
c.1013C>G (p.Ser338Cys)
c.980C>G (p.Ser327Cys)
c.953C>G (p.Ser318Cys)
c.920C>G (p.Ser307Cys)
c.887C>G (p.Ser296Cys)
4g.76112491C>TCA357317260ART3,NUP54c.1175C>T (p.Ser392Phe)
c.*1446G>A (n.*1446G>A)
c.1043C>T (p.Ser348Phe)
c.1142C>T (p.Ser381Phe)
c.1076C>T (p.Ser359Phe)
c.1109C>T (p.Ser370Phe)
n.277C>T
n.373C>T
n.340C>T
n.582C>T
n.684C>T
c.1046C>T (p.Ser349Phe)
c.1145C>T (p.Ser382Phe)
c.1079C>T (p.Ser360Phe)
c.1019C>T (p.Ser340Phe)
c.1112C>T (p.Ser371Phe)
n.2498C>T
n.2939C>T
c.1013C>T (p.Ser338Phe)
c.980C>T (p.Ser327Phe)
c.953C>T (p.Ser318Phe)
c.920C>T (p.Ser307Phe)
c.887C>T (p.Ser296Phe)
 COSMIC COSMIC
4g.76112492T>ACA439956054ART3,NUP54c.1176T>A (p.Ser392=)
c.*1445A>T (n.*1445A>T)
c.1044T>A (p.Ser348=)
c.1143T>A (p.Ser381=)
c.1077T>A (p.Ser359=)
c.1110T>A (p.Ser370=)
n.278T>A
n.374T>A
n.341T>A
n.583T>A
n.685T>A
c.1047T>A (p.Ser349=)
c.1146T>A (p.Ser382=)
c.1080T>A (p.Ser360=)
c.1020T>A (p.Ser340=)
c.1113T>A (p.Ser371=)
n.2499T>A
n.2940T>A
c.1014T>A (p.Ser338=)
c.981T>A (p.Ser327=)
c.954T>A (p.Ser318=)
c.921T>A (p.Ser307=)
c.888T>A (p.Ser296=)
4g.76112492T>CCA439956055ART3,NUP54c.1176T>C (p.Ser392=)
c.*1445A>G (n.*1445A>G)
c.1044T>C (p.Ser348=)
c.1143T>C (p.Ser381=)
c.1077T>C (p.Ser359=)
c.1110T>C (p.Ser370=)
n.278T>C
n.374T>C
n.341T>C
n.583T>C
n.685T>C
c.1047T>C (p.Ser349=)
c.1146T>C (p.Ser382=)
c.1080T>C (p.Ser360=)
c.1020T>C (p.Ser340=)
c.1113T>C (p.Ser371=)
n.2499T>C
n.2940T>C
c.1014T>C (p.Ser338=)
c.981T>C (p.Ser327=)
c.954T>C (p.Ser318=)
c.921T>C (p.Ser307=)
c.888T>C (p.Ser296=)
 dbSNP gnomAD v2 gnomAD v4
4g.76112492T>GCA439956056ART3,NUP54c.1176T>G (p.Ser392=)
c.*1445A>C (n.*1445A>C)
c.1044T>G (p.Ser348=)
c.1143T>G (p.Ser381=)
c.1077T>G (p.Ser359=)
c.1110T>G (p.Ser370=)
n.278T>G
n.374T>G
n.341T>G
n.583T>G
n.685T>G
c.1047T>G (p.Ser349=)
c.1146T>G (p.Ser382=)
c.1080T>G (p.Ser360=)
c.1020T>G (p.Ser340=)
c.1113T>G (p.Ser371=)
n.2499T>G
n.2940T>G
c.1014T>G (p.Ser338=)
c.981T>G (p.Ser327=)
c.954T>G (p.Ser318=)
c.921T>G (p.Ser307=)
c.888T>G (p.Ser296=)
4g.76112492T=CA1469471067ART3,NUP54c.1176T= (p.Ser392=)
c.*1445A= (n.*1445A=)
c.1044T= (p.Ser348=)
c.1143T= (p.Ser381=)
c.1077T= (p.Ser359=)
c.1110T= (p.Ser370=)
n.278T=
n.374T=
n.341T=
n.583T=
n.685T=
c.1047T= (p.Ser349=)
c.1146T= (p.Ser382=)
c.1080T= (p.Ser360=)
c.1020T= (p.Ser340=)
c.1113T= (p.Ser371=)
n.2499T=
n.2940T=
c.1014T= (p.Ser338=)
c.981T= (p.Ser327=)
c.954T= (p.Ser318=)
c.921T= (p.Ser307=)
c.888T= (p.Ser296=)
4g.76112493G>ACA357317261ART3,NUP54c.1177G>A (p.Ala393Thr)
c.*1444C>T (n.*1444C>T)
c.1045G>A (p.Ala349Thr)
c.1144G>A (p.Ala382Thr)
c.1078G>A (p.Ala360Thr)
c.1111G>A (p.Ala371Thr)
n.279G>A
n.375G>A
n.342G>A
n.584G>A
n.686G>A
c.1048G>A (p.Ala350Thr)
c.1147G>A (p.Ala383Thr)
c.1081G>A (p.Ala361Thr)
c.1021G>A (p.Ala341Thr)
c.1114G>A (p.Ala372Thr)
n.2500G>A
n.2941G>A
c.1015G>A (p.Ala339Thr)
c.982G>A (p.Ala328Thr)
c.955G>A (p.Ala319Thr)
c.922G>A (p.Ala308Thr)
c.889G>A (p.Ala297Thr)
4g.76112493G>CCA357317262ART3,NUP54c.1177G>C (p.Ala393Pro)
c.*1444C>G (n.*1444C>G)
c.1045G>C (p.Ala349Pro)
c.1144G>C (p.Ala382Pro)
c.1078G>C (p.Ala360Pro)
c.1111G>C (p.Ala371Pro)
n.279G>C
n.375G>C
n.342G>C
n.584G>C
n.686G>C
c.1048G>C (p.Ala350Pro)
c.1147G>C (p.Ala383Pro)
c.1081G>C (p.Ala361Pro)
c.1021G>C (p.Ala341Pro)
c.1114G>C (p.Ala372Pro)
n.2500G>C
n.2941G>C
c.1015G>C (p.Ala339Pro)
c.982G>C (p.Ala328Pro)
c.955G>C (p.Ala319Pro)
c.922G>C (p.Ala308Pro)
c.889G>C (p.Ala297Pro)
4g.76112493G>TCA357317263ART3,NUP54c.1177G>T (p.Ala393Ser)
c.*1444C>A (n.*1444C>A)
c.1045G>T (p.Ala349Ser)
c.1144G>T (p.Ala382Ser)
c.1078G>T (p.Ala360Ser)
c.1111G>T (p.Ala371Ser)
n.279G>T
n.375G>T
n.342G>T
n.584G>T
n.686G>T
c.1048G>T (p.Ala350Ser)
c.1147G>T (p.Ala383Ser)
c.1081G>T (p.Ala361Ser)
c.1021G>T (p.Ala341Ser)
c.1114G>T (p.Ala372Ser)
n.2500G>T
n.2941G>T
c.1015G>T (p.Ala339Ser)
c.982G>T (p.Ala328Ser)
c.955G>T (p.Ala319Ser)
c.922G>T (p.Ala308Ser)
c.889G>T (p.Ala297Ser)
4g.76112494C>ACA2969593ART3,NUP54c.1178C>A (p.Ala393Asp)
c.*1443G>T (n.*1443G>T)
c.1046C>A (p.Ala349Asp)
c.1145C>A (p.Ala382Asp)
c.1079C>A (p.Ala360Asp)
c.1112C>A (p.Ala371Asp)
n.280C>A
n.376C>A
n.343C>A
n.585C>A
n.687C>A
c.1049C>A (p.Ala350Asp)
c.1148C>A (p.Ala383Asp)
c.1082C>A (p.Ala361Asp)
c.1022C>A (p.Ala341Asp)
c.1115C>A (p.Ala372Asp)
n.2501C>A
n.2942C>A
c.1016C>A (p.Ala339Asp)
c.983C>A (p.Ala328Asp)
c.956C>A (p.Ala319Asp)
c.923C>A (p.Ala308Asp)
c.890C>A (p.Ala297Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112494C=CA1469471073ART3,NUP54c.1178C= (p.Ala393=)
c.*1443G= (n.*1443G=)
c.1046C= (p.Ala349=)
c.1145C= (p.Ala382=)
c.1079C= (p.Ala360=)
c.1112C= (p.Ala371=)
n.280C=
n.376C=
n.343C=
n.585C=
n.687C=
c.1049C= (p.Ala350=)
c.1148C= (p.Ala383=)
c.1082C= (p.Ala361=)
c.1022C= (p.Ala341=)
c.1115C= (p.Ala372=)
n.2501C=
n.2942C=
c.1016C= (p.Ala339=)
c.983C= (p.Ala328=)
c.956C= (p.Ala319=)
c.923C= (p.Ala308=)
c.890C= (p.Ala297=)
4g.76112494C>GCA2969594ART3,NUP54c.1178C>G (p.Ala393Gly)
c.*1443G>C (n.*1443G>C)
c.1046C>G (p.Ala349Gly)
c.1145C>G (p.Ala382Gly)
c.1079C>G (p.Ala360Gly)
c.1112C>G (p.Ala371Gly)
n.280C>G
n.376C>G
n.343C>G
n.585C>G
n.687C>G
c.1049C>G (p.Ala350Gly)
c.1148C>G (p.Ala383Gly)
c.1082C>G (p.Ala361Gly)
c.1022C>G (p.Ala341Gly)
c.1115C>G (p.Ala372Gly)
n.2501C>G
n.2942C>G
c.1016C>G (p.Ala339Gly)
c.983C>G (p.Ala328Gly)
c.956C>G (p.Ala319Gly)
c.923C>G (p.Ala308Gly)
c.890C>G (p.Ala297Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.76112494C>TCA357317264ART3,NUP54c.1178C>T (p.Ala393Val)
c.*1443G>A (n.*1443G>A)
c.1046C>T (p.Ala349Val)
c.1145C>T (p.Ala382Val)
c.1079C>T (p.Ala360Val)
c.1112C>T (p.Ala371Val)
n.280C>T
n.376C>T
n.343C>T
n.585C>T
n.687C>T
c.1049C>T (p.Ala350Val)
c.1148C>T (p.Ala383Val)
c.1082C>T (p.Ala361Val)
c.1022C>T (p.Ala341Val)
c.1115C>T (p.Ala372Val)
n.2501C>T
n.2942C>T
c.1016C>T (p.Ala339Val)
c.983C>T (p.Ala328Val)
c.956C>T (p.Ala319Val)
c.923C>T (p.Ala308Val)
c.890C>T (p.Ala297Val)
4g.76112495T>ACA439956060ART3,NUP54c.1179T>A (p.Ala393=)
c.*1442A>T (n.*1442A>T)
c.1047T>A (p.Ala349=)
c.1146T>A (p.Ala382=)
c.1080T>A (p.Ala360=)
c.1113T>A (p.Ala371=)
n.281T>A
n.377T>A
n.344T>A
n.586T>A
n.688T>A
c.1050T>A (p.Ala350=)
c.1149T>A (p.Ala383=)
c.1083T>A (p.Ala361=)
c.1023T>A (p.Ala341=)
c.1116T>A (p.Ala372=)
n.2502T>A
n.2943T>A
c.1017T>A (p.Ala339=)
c.984T>A (p.Ala328=)
c.957T>A (p.Ala319=)
c.924T>A (p.Ala308=)
c.891T>A (p.Ala297=)
4g.76112495T>CCA439956061ART3,NUP54c.1179T>C (p.Ala393=)
c.*1442A>G (n.*1442A>G)
c.1047T>C (p.Ala349=)
c.1146T>C (p.Ala382=)
c.1080T>C (p.Ala360=)
c.1113T>C (p.Ala371=)
n.281T>C
n.377T>C
n.344T>C
n.586T>C
n.688T>C
c.1050T>C (p.Ala350=)
c.1149T>C (p.Ala383=)
c.1083T>C (p.Ala361=)
c.1023T>C (p.Ala341=)
c.1116T>C (p.Ala372=)
n.2502T>C
n.2943T>C
c.1017T>C (p.Ala339=)
c.984T>C (p.Ala328=)
c.957T>C (p.Ala319=)
c.924T>C (p.Ala308=)
c.891T>C (p.Ala297=)
 dbSNP gnomAD v2
4g.76112495T>GCA439956062ART3,NUP54c.1179T>G (p.Ala393=)
c.*1442A>C (n.*1442A>C)
c.1047T>G (p.Ala349=)
c.1146T>G (p.Ala382=)
c.1080T>G (p.Ala360=)
c.1113T>G (p.Ala371=)
n.281T>G
n.377T>G
n.344T>G
n.586T>G
n.688T>G
c.1050T>G (p.Ala350=)
c.1149T>G (p.Ala383=)
c.1083T>G (p.Ala361=)
c.1023T>G (p.Ala341=)
c.1116T>G (p.Ala372=)
n.2502T>G
n.2943T>G
c.1017T>G (p.Ala339=)
c.984T>G (p.Ala328=)
c.957T>G (p.Ala319=)
c.924T>G (p.Ala308=)
c.891T>G (p.Ala297=)
4g.76112495T=CA1469471080ART3,NUP54c.1179T= (p.Ala393=)
c.*1442A= (n.*1442A=)
c.1047T= (p.Ala349=)
c.1146T= (p.Ala382=)
c.1080T= (p.Ala360=)
c.1113T= (p.Ala371=)
n.281T=
n.377T=
n.344T=
n.586T=
n.688T=
c.1050T= (p.Ala350=)
c.1149T= (p.Ala383=)
c.1083T= (p.Ala361=)
c.1023T= (p.Ala341=)
c.1116T= (p.Ala372=)
n.2502T=
n.2943T=
c.1017T= (p.Ala339=)
c.984T= (p.Ala328=)
c.957T= (p.Ala319=)
c.924T= (p.Ala308=)
c.891T= (p.Ala297=)
4g.76112496A=CA1469471086ART3,NUP54c.1180A= (p.Ile394=)
c.*1441T= (n.*1441T=)
c.1048A= (p.Ile350=)
c.1147A= (p.Ile383=)
c.1081A= (p.Ile361=)
c.1114A= (p.Ile372=)
n.282A=
n.378A=
n.345A=
n.587A=
n.689A=
c.1051A= (p.Ile351=)
c.1150A= (p.Ile384=)
c.1084A= (p.Ile362=)
c.1024A= (p.Ile342=)
c.1117A= (p.Ile373=)
n.2503A=
n.2944A=
c.1018A= (p.Ile340=)
c.985A= (p.Ile329=)
c.958A= (p.Ile320=)
c.925A= (p.Ile309=)
c.892A= (p.Ile298=)
4g.76112496A>CCA357317267ART3,NUP54c.1180A>C (p.Ile394Leu)
c.*1441T>G (n.*1441T>G)
c.1048A>C (p.Ile350Leu)
c.1147A>C (p.Ile383Leu)
c.1081A>C (p.Ile361Leu)
c.1114A>C (p.Ile372Leu)
n.282A>C
n.378A>C
n.345A>C
n.587A>C
n.689A>C
c.1051A>C (p.Ile351Leu)
c.1150A>C (p.Ile384Leu)
c.1084A>C (p.Ile362Leu)
c.1024A>C (p.Ile342Leu)
c.1117A>C (p.Ile373Leu)
n.2503A>C
n.2944A>C
c.1018A>C (p.Ile340Leu)
c.985A>C (p.Ile329Leu)
c.958A>C (p.Ile320Leu)
c.925A>C (p.Ile309Leu)
c.892A>C (p.Ile298Leu)
4g.76112496A>GCA357317266ART3,NUP54c.1180A>G (p.Ile394Val)
c.*1441T>C (n.*1441T>C)
c.1048A>G (p.Ile350Val)
c.1147A>G (p.Ile383Val)
c.1081A>G (p.Ile361Val)
c.1114A>G (p.Ile372Val)
n.282A>G
n.378A>G
n.345A>G
n.587A>G
n.689A>G
c.1051A>G (p.Ile351Val)
c.1150A>G (p.Ile384Val)
c.1084A>G (p.Ile362Val)
c.1024A>G (p.Ile342Val)
c.1117A>G (p.Ile373Val)
n.2503A>G
n.2944A>G
c.1018A>G (p.Ile340Val)
c.985A>G (p.Ile329Val)
c.958A>G (p.Ile320Val)
c.925A>G (p.Ile309Val)
c.892A>G (p.Ile298Val)
 dbSNP gnomAD v2 gnomAD v4
4g.76112496A>TCA357317265ART3,NUP54c.1180A>T (p.Ile394Leu)
c.*1441T>A (n.*1441T>A)
c.1048A>T (p.Ile350Leu)
c.1147A>T (p.Ile383Leu)
c.1081A>T (p.Ile361Leu)
c.1114A>T (p.Ile372Leu)
n.282A>T
n.378A>T
n.345A>T
n.587A>T
n.689A>T
c.1051A>T (p.Ile351Leu)
c.1150A>T (p.Ile384Leu)
c.1084A>T (p.Ile362Leu)
c.1024A>T (p.Ile342Leu)
c.1117A>T (p.Ile373Leu)
n.2503A>T
n.2944A>T
c.1018A>T (p.Ile340Leu)
c.985A>T (p.Ile329Leu)
c.958A>T (p.Ile320Leu)
c.925A>T (p.Ile309Leu)
c.892A>T (p.Ile298Leu)
4g.76112497T>ACA357317268ART3,NUP54c.1181T>A (p.Ile394Lys)
c.*1440A>T (n.*1440A>T)
c.1049T>A (p.Ile350Lys)
c.1148T>A (p.Ile383Lys)
c.1082T>A (p.Ile361Lys)
c.1115T>A (p.Ile372Lys)
n.283T>A
n.379T>A
n.346T>A
n.588T>A
n.690T>A
c.1052T>A (p.Ile351Lys)
c.1151T>A (p.Ile384Lys)
c.1085T>A (p.Ile362Lys)
c.1025T>A (p.Ile342Lys)
c.1118T>A (p.Ile373Lys)
n.2504T>A
n.2945T>A
c.1019T>A (p.Ile340Lys)
c.986T>A (p.Ile329Lys)
c.959T>A (p.Ile320Lys)
c.926T>A (p.Ile309Lys)
c.893T>A (p.Ile298Lys)
4g.76112497T>CCA357317270ART3,NUP54c.1181T>C (p.Ile394Thr)
c.*1440A>G (n.*1440A>G)
c.1049T>C (p.Ile350Thr)
c.1148T>C (p.Ile383Thr)
c.1082T>C (p.Ile361Thr)
c.1115T>C (p.Ile372Thr)
n.283T>C
n.379T>C
n.346T>C
n.588T>C
n.690T>C
c.1052T>C (p.Ile351Thr)
c.1151T>C (p.Ile384Thr)
c.1085T>C (p.Ile362Thr)
c.1025T>C (p.Ile342Thr)
c.1118T>C (p.Ile373Thr)
n.2504T>C
n.2945T>C
c.1019T>C (p.Ile340Thr)
c.986T>C (p.Ile329Thr)
c.959T>C (p.Ile320Thr)
c.926T>C (p.Ile309Thr)
c.893T>C (p.Ile298Thr)
4g.76112497T>GCA357317269ART3,NUP54c.1181T>G (p.Ile394Arg)
c.*1440A>C (n.*1440A>C)
c.1049T>G (p.Ile350Arg)
c.1148T>G (p.Ile383Arg)
c.1082T>G (p.Ile361Arg)
c.1115T>G (p.Ile372Arg)
n.283T>G
n.379T>G
n.346T>G
n.588T>G
n.690T>G
c.1052T>G (p.Ile351Arg)
c.1151T>G (p.Ile384Arg)
c.1085T>G (p.Ile362Arg)
c.1025T>G (p.Ile342Arg)
c.1118T>G (p.Ile373Arg)
n.2504T>G
n.2945T>G
c.1019T>G (p.Ile340Arg)
c.986T>G (p.Ile329Arg)
c.959T>G (p.Ile320Arg)
c.926T>G (p.Ile309Arg)
c.893T>G (p.Ile298Arg)
4g.76112498A=CA1469471089ART3,NUP54c.1182A= (p.Ile394=)
c.*1439T= (n.*1439T=)
c.1050A= (p.Ile350=)
c.1149A= (p.Ile383=)
c.1083A= (p.Ile361=)
c.1116A= (p.Ile372=)
n.284A=
n.380A=
n.347A=
n.589A=
n.691A=
c.1053A= (p.Ile351=)
c.1152A= (p.Ile384=)
c.1086A= (p.Ile362=)
c.1026A= (p.Ile342=)
c.1119A= (p.Ile373=)
n.2505A=
n.2946A=
c.1020A= (p.Ile340=)
c.987A= (p.Ile329=)
c.960A= (p.Ile320=)
c.927A= (p.Ile309=)
c.894A= (p.Ile298=)
4g.76112498A>CCA439956066ART3,NUP54c.1182A>C (p.Ile394=)
c.*1439T>G (n.*1439T>G)
c.1050A>C (p.Ile350=)
c.1149A>C (p.Ile383=)
c.1083A>C (p.Ile361=)
c.1116A>C (p.Ile372=)
n.284A>C
n.380A>C
n.347A>C
n.589A>C
n.691A>C
c.1053A>C (p.Ile351=)
c.1152A>C (p.Ile384=)
c.1086A>C (p.Ile362=)
c.1026A>C (p.Ile342=)
c.1119A>C (p.Ile373=)
n.2505A>C
n.2946A>C
c.1020A>C (p.Ile340=)
c.987A>C (p.Ile329=)
c.960A>C (p.Ile320=)
c.927A>C (p.Ile309=)
c.894A>C (p.Ile298=)
4g.76112498A>GCA357317271ART3,NUP54c.1182A>G (p.Ile394Met)
c.*1439T>C (n.*1439T>C)
c.1050A>G (p.Ile350Met)
c.1149A>G (p.Ile383Met)
c.1083A>G (p.Ile361Met)
c.1116A>G (p.Ile372Met)
n.284A>G
n.380A>G
n.347A>G
n.589A>G
n.691A>G
c.1053A>G (p.Ile351Met)
c.1152A>G (p.Ile384Met)
c.1086A>G (p.Ile362Met)
c.1026A>G (p.Ile342Met)
c.1119A>G (p.Ile373Met)
n.2505A>G
n.2946A>G
c.1020A>G (p.Ile340Met)
c.987A>G (p.Ile329Met)
c.960A>G (p.Ile320Met)
c.927A>G (p.Ile309Met)
c.894A>G (p.Ile298Met)
 dbSNP gnomAD v2 gnomAD v4
4g.76112498A>TCA439956067ART3,NUP54c.1182A>T (p.Ile394=)
c.*1439T>A (n.*1439T>A)
c.1050A>T (p.Ile350=)
c.1149A>T (p.Ile383=)
c.1083A>T (p.Ile361=)
c.1116A>T (p.Ile372=)
n.284A>T
n.380A>T
n.347A>T
n.589A>T
n.691A>T
c.1053A>T (p.Ile351=)
c.1152A>T (p.Ile384=)
c.1086A>T (p.Ile362=)
c.1026A>T (p.Ile342=)
c.1119A>T (p.Ile373=)
n.2505A>T
n.2946A>T
c.1020A>T (p.Ile340=)
c.987A>T (p.Ile329=)
c.960A>T (p.Ile320=)
c.927A>T (p.Ile309=)
c.894A>T (p.Ile298=)
4g.76112499A>CCA357317273ART3,NUP54c.1183A>C (p.Asn395His)
c.*1438T>G (n.*1438T>G)
c.1051A>C (p.Asn351His)
c.1150A>C (p.Asn384His)
c.1084A>C (p.Asn362His)
c.1117A>C (p.Asn373His)
n.285A>C
n.381A>C
n.348A>C
n.590A>C
n.692A>C
c.1054A>C (p.Asn352His)
c.1153A>C (p.Asn385His)
c.1087A>C (p.Asn363His)
c.1027A>C (p.Asn343His)
c.1120A>C (p.Asn374His)
n.2506A>C
n.2947A>C
c.1021A>C (p.Asn341His)
c.988A>C (p.Asn330His)
c.961A>C (p.Asn321His)
c.928A>C (p.Asn310His)
c.895A>C (p.Asn299His)
4g.76112499A>GCA357317272ART3,NUP54c.1183A>G (p.Asn395Asp)
c.*1438T>C (n.*1438T>C)
c.1051A>G (p.Asn351Asp)
c.1150A>G (p.Asn384Asp)
c.1084A>G (p.Asn362Asp)
c.1117A>G (p.Asn373Asp)
n.285A>G
n.381A>G
n.348A>G
n.590A>G
n.692A>G
c.1054A>G (p.Asn352Asp)
c.1153A>G (p.Asn385Asp)
c.1087A>G (p.Asn363Asp)
c.1027A>G (p.Asn343Asp)
c.1120A>G (p.Asn374Asp)
n.2506A>G
n.2947A>G
c.1021A>G (p.Asn341Asp)
c.988A>G (p.Asn330Asp)
c.961A>G (p.Asn321Asp)
c.928A>G (p.Asn310Asp)
c.895A>G (p.Asn299Asp)
4g.76112499A>TCA357317274ART3,NUP54c.1183A>T (p.Asn395Tyr)
c.*1438T>A (n.*1438T>A)
c.1051A>T (p.Asn351Tyr)
c.1150A>T (p.Asn384Tyr)
c.1084A>T (p.Asn362Tyr)
c.1117A>T (p.Asn373Tyr)
n.285A>T
n.381A>T
n.348A>T
n.590A>T
n.692A>T
c.1054A>T (p.Asn352Tyr)
c.1153A>T (p.Asn385Tyr)
c.1087A>T (p.Asn363Tyr)
c.1027A>T (p.Asn343Tyr)
c.1120A>T (p.Asn374Tyr)
n.2506A>T
n.2947A>T
c.1021A>T (p.Asn341Tyr)
c.988A>T (p.Asn330Tyr)
c.961A>T (p.Asn321Tyr)
c.928A>T (p.Asn310Tyr)
c.895A>T (p.Asn299Tyr)
4g.76112500A=CA1469471092ART3,NUP54c.1184A= (p.Asn395=)
c.*1437T= (n.*1437T=)
c.1052A= (p.Asn351=)
c.1151A= (p.Asn384=)
c.1085A= (p.Asn362=)
c.1118A= (p.Asn373=)
n.286A=
n.382A=
n.349A=
n.591A=
n.693A=
c.1055A= (p.Asn352=)
c.1154A= (p.Asn385=)
c.1088A= (p.Asn363=)
c.1028A= (p.Asn343=)
c.1121A= (p.Asn374=)
n.2507A=
n.2948A=
c.1022A= (p.Asn341=)
c.989A= (p.Asn330=)
c.962A= (p.Asn321=)
c.929A= (p.Asn310=)
c.896A= (p.Asn299=)
4g.76112500A>CCA357317275ART3,NUP54c.1184A>C (p.Asn395Thr)
c.*1437T>G (n.*1437T>G)
c.1052A>C (p.Asn351Thr)
c.1151A>C (p.Asn384Thr)
c.1085A>C (p.Asn362Thr)
c.1118A>C (p.Asn373Thr)
n.286A>C
n.382A>C
n.349A>C
n.591A>C
n.693A>C
c.1055A>C (p.Asn352Thr)
c.1154A>C (p.Asn385Thr)
c.1088A>C (p.Asn363Thr)
c.1028A>C (p.Asn343Thr)
c.1121A>C (p.Asn374Thr)
n.2507A>C
n.2948A>C
c.1022A>C (p.Asn341Thr)
c.989A>C (p.Asn330Thr)
c.962A>C (p.Asn321Thr)
c.929A>C (p.Asn310Thr)
c.896A>C (p.Asn299Thr)
4g.76112500A>GCA357317276ART3,NUP54c.1184A>G (p.Asn395Ser)
c.*1437T>C (n.*1437T>C)
c.1052A>G (p.Asn351Ser)
c.1151A>G (p.Asn384Ser)
c.1085A>G (p.Asn362Ser)
c.1118A>G (p.Asn373Ser)
n.286A>G
n.382A>G
n.349A>G
n.591A>G
n.693A>G
c.1055A>G (p.Asn352Ser)
c.1154A>G (p.Asn385Ser)
c.1088A>G (p.Asn363Ser)
c.1028A>G (p.Asn343Ser)
c.1121A>G (p.Asn374Ser)
n.2507A>G
n.2948A>G
c.1022A>G (p.Asn341Ser)
c.989A>G (p.Asn330Ser)
c.962A>G (p.Asn321Ser)
c.929A>G (p.Asn310Ser)
c.896A>G (p.Asn299Ser)
 dbSNP
4g.76112500A>TCA357317277ART3,NUP54c.1184A>T (p.Asn395Ile)
c.*1437T>A (n.*1437T>A)
c.1052A>T (p.Asn351Ile)
c.1151A>T (p.Asn384Ile)
c.1085A>T (p.Asn362Ile)
c.1118A>T (p.Asn373Ile)
n.286A>T
n.382A>T
n.349A>T
n.591A>T
n.693A>T
c.1055A>T (p.Asn352Ile)
c.1154A>T (p.Asn385Ile)
c.1088A>T (p.Asn363Ile)
c.1028A>T (p.Asn343Ile)
c.1121A>T (p.Asn374Ile)
n.2507A>T
n.2948A>T
c.1022A>T (p.Asn341Ile)
c.989A>T (p.Asn330Ile)
c.962A>T (p.Asn321Ile)
c.929A>T (p.Asn310Ile)
c.896A>T (p.Asn299Ile)
 gnomAD v4
4g.76112501T>ACA357317278ART3,NUP54c.1185T>A (p.Asn395Lys)
c.*1436A>T (n.*1436A>T)
c.1053T>A (p.Asn351Lys)
c.1152T>A (p.Asn384Lys)
c.1086T>A (p.Asn362Lys)
c.1119T>A (p.Asn373Lys)
n.287T>A
n.383T>A
n.350T>A
n.592T>A
n.694T>A
c.1056T>A (p.Asn352Lys)
c.1155T>A (p.Asn385Lys)
c.1089T>A (p.Asn363Lys)
c.1029T>A (p.Asn343Lys)
c.1122T>A (p.Asn374Lys)
n.2508T>A
n.2949T>A
c.1023T>A (p.Asn341Lys)
c.990T>A (p.Asn330Lys)
c.963T>A (p.Asn321Lys)
c.930T>A (p.Asn310Lys)
c.897T>A (p.Asn299Lys)
4g.76112501T>CCA439956071ART3,NUP54c.1185T>C (p.Asn395=)
c.*1436A>G (n.*1436A>G)
c.1053T>C (p.Asn351=)
c.1152T>C (p.Asn384=)
c.1086T>C (p.Asn362=)
c.1119T>C (p.Asn373=)
n.287T>C
n.383T>C
n.350T>C
n.592T>C
n.694T>C
c.1056T>C (p.Asn352=)
c.1155T>C (p.Asn385=)
c.1089T>C (p.Asn363=)
c.1029T>C (p.Asn343=)
c.1122T>C (p.Asn374=)
n.2508T>C
n.2949T>C
c.1023T>C (p.Asn341=)
c.990T>C (p.Asn330=)
c.963T>C (p.Asn321=)
c.930T>C (p.Asn310=)
c.897T>C (p.Asn299=)
4g.76112501T>GCA357317279ART3,NUP54c.1185T>G (p.Asn395Lys)
c.*1436A>C (n.*1436A>C)
c.1053T>G (p.Asn351Lys)
c.1152T>G (p.Asn384Lys)
c.1086T>G (p.Asn362Lys)
c.1119T>G (p.Asn373Lys)
n.287T>G
n.383T>G
n.350T>G
n.592T>G
n.694T>G
c.1056T>G (p.Asn352Lys)
c.1155T>G (p.Asn385Lys)
c.1089T>G (p.Asn363Lys)
c.1029T>G (p.Asn343Lys)
c.1122T>G (p.Asn374Lys)
n.2508T>G
n.2949T>G
c.1023T>G (p.Asn341Lys)
c.990T>G (p.Asn330Lys)
c.963T>G (p.Asn321Lys)
c.930T>G (p.Asn310Lys)
c.897T>G (p.Asn299Lys)
4g.76112502C>ACA357317280ART3,NUP54c.1186C>A (p.Leu396Ile)
c.*1435G>T (n.*1435G>T)
c.1054C>A (p.Leu352Ile)
c.1153C>A (p.Leu385Ile)
c.1087C>A (p.Leu363Ile)
c.1120C>A (p.Leu374Ile)
n.288C>A
n.384C>A
n.351C>A
n.593C>A
n.695C>A
c.1057C>A (p.Leu353Ile)
c.1156C>A (p.Leu386Ile)
c.1090C>A (p.Leu364Ile)
c.1030C>A (p.Leu344Ile)
c.1123C>A (p.Leu375Ile)
n.2509C>A
n.2950C>A
c.1024C>A (p.Leu342Ile)
c.991C>A (p.Leu331Ile)
c.964C>A (p.Leu322Ile)
c.931C>A (p.Leu311Ile)
c.898C>A (p.Leu300Ile)
4g.76112502C=CA1469471095ART3,NUP54c.1186C= (p.Leu396=)
c.*1435G= (n.*1435G=)
c.1054C= (p.Leu352=)
c.1153C= (p.Leu385=)
c.1087C= (p.Leu363=)
c.1120C= (p.Leu374=)
n.288C=
n.384C=
n.351C=
n.593C=
n.695C=
c.1057C= (p.Leu353=)
c.1156C= (p.Leu386=)
c.1090C= (p.Leu364=)
c.1030C= (p.Leu344=)
c.1123C= (p.Leu375=)
n.2509C=
n.2950C=
c.1024C= (p.Leu342=)
c.991C= (p.Leu331=)
c.964C= (p.Leu322=)
c.931C= (p.Leu311=)
c.898C= (p.Leu300=)
4g.76112502C>GCA357317281ART3,NUP54c.1186C>G (p.Leu396Val)
c.*1435G>C (n.*1435G>C)
c.1054C>G (p.Leu352Val)
c.1153C>G (p.Leu385Val)
c.1087C>G (p.Leu363Val)
c.1120C>G (p.Leu374Val)
n.288C>G
n.384C>G
n.351C>G
n.593C>G
n.695C>G
c.1057C>G (p.Leu353Val)
c.1156C>G (p.Leu386Val)
c.1090C>G (p.Leu364Val)
c.1030C>G (p.Leu344Val)
c.1123C>G (p.Leu375Val)
n.2509C>G
n.2950C>G
c.1024C>G (p.Leu342Val)
c.991C>G (p.Leu331Val)
c.964C>G (p.Leu322Val)
c.931C>G (p.Leu311Val)
c.898C>G (p.Leu300Val)
4g.76112502C>TCA357317282ART3,NUP54c.1186C>T (p.Leu396Phe)
c.*1435G>A (n.*1435G>A)
c.1054C>T (p.Leu352Phe)
c.1153C>T (p.Leu385Phe)
c.1087C>T (p.Leu363Phe)
c.1120C>T (p.Leu374Phe)
n.288C>T
n.384C>T
n.351C>T
n.593C>T
n.695C>T
c.1057C>T (p.Leu353Phe)
c.1156C>T (p.Leu386Phe)
c.1090C>T (p.Leu364Phe)
c.1030C>T (p.Leu344Phe)
c.1123C>T (p.Leu375Phe)
n.2509C>T
n.2950C>T
c.1024C>T (p.Leu342Phe)
c.991C>T (p.Leu331Phe)
c.964C>T (p.Leu322Phe)
c.931C>T (p.Leu311Phe)
c.898C>T (p.Leu300Phe)
 dbSNP gnomAD v3 gnomAD v4
4g.76112502_76112503delinsCTCA1469471097ART3,NUP54c.1186_1187delinsCT (p.Leu396=)
c.*1434_*1435delinsAG (n.*1434_*1435delinsAG)
c.1054_1055delinsCT (p.Leu352=)
c.1153_1154delinsCT (p.Leu385=)
c.1087_1088delinsCT (p.Leu363=)
c.1120_1121delinsCT (p.Leu374=)
n.288_289delinsCT
n.384_385delinsCT
n.351_352delinsCT
n.593_594delinsCT
n.695_696delinsCT
c.1057_1058delinsCT (p.Leu353=)
c.1156_1157delinsCT (p.Leu386=)
c.1090_1091delinsCT (p.Leu364=)
c.1030_1031delinsCT (p.Leu344=)
c.1123_1124delinsCT (p.Leu375=)
n.2509_2510delinsCT
n.2950_2951delinsCT
c.1024_1025delinsCT (p.Leu342=)
c.991_992delinsCT (p.Leu331=)
c.964_965delinsCT (p.Leu322=)
c.931_932delinsCT (p.Leu311=)
c.898_899delinsCT (p.Leu300=)
4g.76112503delCA1469471101ART3,NUP54c.1187del (p.Leu396ProfsTer18)
c.*1434del (n.*1434del)
c.1055del (p.Leu352ProfsTer18)
c.1154del (p.Leu385ProfsTer18)
c.1088del (p.Leu363ProfsTer18)
c.1121del (p.Leu374ProfsTer18)
n.289del
n.385del
n.352del
n.594del
n.696del
c.1058del (p.Leu353ProfsTer18)
c.1157del (p.Leu386ProfsTer18)
c.1091del (p.Leu364ProfsTer18)
c.1031del (p.Leu344ProfsTer18)
c.1124del (p.Leu375ProfsTer18)
n.2510del
n.2951del
c.1025del (p.Leu342ProfsTer18)
c.992del (p.Leu331ProfsTer18)
c.965del (p.Leu322ProfsTer18)
c.932del (p.Leu311ProfsTer18)
c.899del (p.Leu300ProfsTer18)
 dbSNP
4g.76112503T>ACA357317283ART3,NUP54c.1187T>A (p.Leu396His)
c.*1434A>T (n.*1434A>T)
c.1055T>A (p.Leu352His)
c.1154T>A (p.Leu385His)
c.1088T>A (p.Leu363His)
c.1121T>A (p.Leu374His)
n.289T>A
n.385T>A
n.352T>A
n.594T>A
n.696T>A
c.1058T>A (p.Leu353His)
c.1157T>A (p.Leu386His)
c.1091T>A (p.Leu364His)
c.1031T>A (p.Leu344His)
c.1124T>A (p.Leu375His)
n.2510T>A
n.2951T>A
c.1025T>A (p.Leu342His)
c.992T>A (p.Leu331His)
c.965T>A (p.Leu322His)
c.932T>A (p.Leu311His)
c.899T>A (p.Leu300His)
4g.76112503T>CCA357317284ART3,NUP54c.1187T>C (p.Leu396Pro)
c.*1434A>G (n.*1434A>G)
c.1055T>C (p.Leu352Pro)
c.1154T>C (p.Leu385Pro)
c.1088T>C (p.Leu363Pro)
c.1121T>C (p.Leu374Pro)
n.289T>C
n.385T>C
n.352T>C
n.594T>C
n.696T>C
c.1058T>C (p.Leu353Pro)
c.1157T>C (p.Leu386Pro)
c.1091T>C (p.Leu364Pro)
c.1031T>C (p.Leu344Pro)
c.1124T>C (p.Leu375Pro)
n.2510T>C
n.2951T>C
c.1025T>C (p.Leu342Pro)
c.992T>C (p.Leu331Pro)
c.965T>C (p.Leu322Pro)
c.932T>C (p.Leu311Pro)
c.899T>C (p.Leu300Pro)
4g.76112503T>GCA357317285ART3,NUP54c.1187T>G (p.Leu396Arg)
c.*1434A>C (n.*1434A>C)
c.1055T>G (p.Leu352Arg)
c.1154T>G (p.Leu385Arg)
c.1088T>G (p.Leu363Arg)
c.1121T>G (p.Leu374Arg)
n.289T>G
n.385T>G
n.352T>G
n.594T>G
n.696T>G
c.1058T>G (p.Leu353Arg)
c.1157T>G (p.Leu386Arg)
c.1091T>G (p.Leu364Arg)
c.1031T>G (p.Leu344Arg)
c.1124T>G (p.Leu375Arg)
n.2510T>G
n.2951T>G
c.1025T>G (p.Leu342Arg)
c.992T>G (p.Leu331Arg)
c.965T>G (p.Leu322Arg)
c.932T>G (p.Leu311Arg)
c.899T>G (p.Leu300Arg)
 dbSNP gnomAD v2 gnomAD v4
4g.76112503T=CA1469471102ART3,NUP54c.1187T= (p.Leu396=)
c.*1434A= (n.*1434A=)
c.1055T= (p.Leu352=)
c.1154T= (p.Leu385=)
c.1088T= (p.Leu363=)
c.1121T= (p.Leu374=)
n.289T=
n.385T=
n.352T=
n.594T=
n.696T=
c.1058T= (p.Leu353=)
c.1157T= (p.Leu386=)
c.1091T= (p.Leu364=)
c.1031T= (p.Leu344=)
c.1124T= (p.Leu375=)
n.2510T=
n.2951T=
c.1025T= (p.Leu342=)
c.992T= (p.Leu331=)
c.965T= (p.Leu322=)
c.932T= (p.Leu311=)
c.899T= (p.Leu300=)
4g.76112504C>ACA439953522ART3,NUP54c.1188C>A (p.Leu396=)
c.*1433G>T (n.*1433G>T)
c.1056C>A (p.Leu352=)
c.1155C>A (p.Leu385=)
c.1089C>A (p.Leu363=)
c.1122C>A (p.Leu374=)
n.290C>A
n.386C>A
n.353C>A
n.595C>A
n.697C>A
c.1059C>A (p.Leu353=)
c.1158C>A (p.Leu386=)
c.1092C>A (p.Leu364=)
c.1032C>A (p.Leu344=)
c.1125C>A (p.Leu375=)
n.2511C>A
n.2952C>A
c.1026C>A (p.Leu342=)
c.993C>A (p.Leu331=)
c.966C>A (p.Leu322=)
c.933C>A (p.Leu311=)
c.900C>A (p.Leu300=)
4g.76112504C>GCA439953523ART3,NUP54c.1188C>G (p.Leu396=)
c.*1433G>C (n.*1433G>C)
c.1056C>G (p.Leu352=)
c.1155C>G (p.Leu385=)
c.1089C>G (p.Leu363=)
c.1122C>G (p.Leu374=)
n.290C>G
n.386C>G
n.353C>G
n.595C>G
n.697C>G
c.1059C>G (p.Leu353=)
c.1158C>G (p.Leu386=)
c.1092C>G (p.Leu364=)
c.1032C>G (p.Leu344=)
c.1125C>G (p.Leu375=)
n.2511C>G
n.2952C>G
c.1026C>G (p.Leu342=)
c.993C>G (p.Leu331=)
c.966C>G (p.Leu322=)
c.933C>G (p.Leu311=)
c.900C>G (p.Leu300=)
4g.76112504C>TCA439953524ART3,NUP54c.1188C>T (p.Leu396=)
c.*1433G>A (n.*1433G>A)
c.1056C>T (p.Leu352=)
c.1155C>T (p.Leu385=)
c.1089C>T (p.Leu363=)
c.1122C>T (p.Leu374=)
n.290C>T
n.386C>T
n.353C>T
n.595C>T
n.697C>T
c.1059C>T (p.Leu353=)
c.1158C>T (p.Leu386=)
c.1092C>T (p.Leu364=)
c.1032C>T (p.Leu344=)
c.1125C>T (p.Leu375=)
n.2511C>T
n.2952C>T
c.1026C>T (p.Leu342=)
c.993C>T (p.Leu331=)
c.966C>T (p.Leu322=)
c.933C>T (p.Leu311=)
c.900C>T (p.Leu300=)
4g.76112504_76112505delinsCTCA1469471104ART3,NUP54c.1188_1189delinsCT (p.Leu396=)
c.*1432_*1433delinsAG (n.*1432_*1433delinsAG)
c.1056_1057delinsCT (p.Leu352=)
c.1155_1156delinsCT (p.Leu385=)
c.1089_1090delinsCT (p.Leu363=)
c.1122_1123delinsCT (p.Leu374=)
n.290_291delinsCT
n.386_387delinsCT
n.353_354delinsCT
n.595_596delinsCT
n.697_698delinsCT
c.1059_1060delinsCT (p.Leu353=)
c.1158_1159delinsCT (p.Leu386=)
c.1092_1093delinsCT (p.Leu364=)
c.1032_1033delinsCT (p.Leu344=)
c.1125_1126delinsCT (p.Leu375=)
n.2511_2512delinsCT
n.2952_2953delinsCT
c.1026_1027delinsCT (p.Leu342=)
c.993_994delinsCT (p.Leu331=)
c.966_967delinsCT (p.Leu322=)
c.933_934delinsCT (p.Leu311=)
c.900_901delinsCT (p.Leu300=)
4g.76112505T>ACA99837963ART3,NUP54c.1189T>A (p.Phe397Ile)
c.*1432A>T (n.*1432A>T)
c.1057T>A (p.Phe353Ile)
c.1156T>A (p.Phe386Ile)
c.1090T>A (p.Phe364Ile)
c.1123T>A (p.Phe375Ile)
n.291T>A
n.387T>A
n.354T>A
n.596T>A
n.698T>A
c.1060T>A (p.Phe354Ile)
c.1159T>A (p.Phe387Ile)
c.1093T>A (p.Phe365Ile)
c.1033T>A (p.Phe345Ile)
c.1126T>A (p.Phe376Ile)
n.2512T>A
n.2953T>A
c.1027T>A (p.Phe343Ile)
c.994T>A (p.Phe332Ile)
c.967T>A (p.Phe323Ile)
c.934T>A (p.Phe312Ile)
c.901T>A (p.Phe301Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.76112505T>CCA357302507ART3,NUP54c.1189T>C (p.Phe397Leu)
c.*1432A>G (n.*1432A>G)
c.1057T>C (p.Phe353Leu)
c.1156T>C (p.Phe386Leu)
c.1090T>C (p.Phe364Leu)
c.1123T>C (p.Phe375Leu)
n.291T>C
n.387T>C
n.354T>C
n.596T>C
n.698T>C
c.1060T>C (p.Phe354Leu)
c.1159T>C (p.Phe387Leu)
c.1093T>C (p.Phe365Leu)
c.1033T>C (p.Phe345Leu)
c.1126T>C (p.Phe376Leu)
n.2512T>C
n.2953T>C
c.1027T>C (p.Phe343Leu)
c.994T>C (p.Phe332Leu)
c.967T>C (p.Phe323Leu)
c.934T>C (p.Phe312Leu)
c.901T>C (p.Phe301Leu)
4g.76112505T>GCA357302509ART3,NUP54c.1189T>G (p.Phe397Val)
c.*1432A>C (n.*1432A>C)
c.1057T>G (p.Phe353Val)
c.1156T>G (p.Phe386Val)
c.1090T>G (p.Phe364Val)
c.1123T>G (p.Phe375Val)
n.291T>G
n.387T>G
n.354T>G
n.596T>G
n.698T>G
c.1060T>G (p.Phe354Val)
c.1159T>G (p.Phe387Val)
c.1093T>G (p.Phe365Val)
c.1033T>G (p.Phe345Val)
c.1126T>G (p.Phe376Val)
n.2512T>G
n.2953T>G
c.1027T>G (p.Phe343Val)
c.994T>G (p.Phe332Val)
c.967T>G (p.Phe323Val)
c.934T>G (p.Phe312Val)
c.901T>G (p.Phe301Val)
4g.76112505T=CA1469471108ART3,NUP54c.1189T= (p.Phe397=)
c.*1432A= (n.*1432A=)
c.1057T= (p.Phe353=)
c.1156T= (p.Phe386=)
c.1090T= (p.Phe364=)
c.1123T= (p.Phe375=)
n.291T=
n.387T=
n.354T=
n.596T=
n.698T=
c.1060T= (p.Phe354=)
c.1159T= (p.Phe387=)
c.1093T= (p.Phe365=)
c.1033T= (p.Phe345=)
c.1126T= (p.Phe376=)
n.2512T=
n.2953T=
c.1027T= (p.Phe343=)
c.994T= (p.Phe332=)
c.967T= (p.Phe323=)
c.934T= (p.Phe312=)
c.901T= (p.Phe301=)
4g.76112507delCA1469471107ART3,NUP54c.1191del (p.Phe397LeufsTer17)
c.*1432del (n.*1432del)
c.1059del (p.Phe353LeufsTer17)
c.1158del (p.Phe386LeufsTer17)
c.1092del (p.Phe364LeufsTer17)
c.1125del (p.Phe375LeufsTer17)
n.293del
n.389del
n.356del
n.598del
n.700del
c.1062del (p.Phe354LeufsTer17)
c.1161del (p.Phe387LeufsTer17)
c.1095del (p.Phe365LeufsTer17)
c.1035del (p.Phe345LeufsTer17)
c.1128del (p.Phe376LeufsTer17)
n.2514del
n.2955del
c.1029del (p.Phe343LeufsTer17)
c.996del (p.Phe332LeufsTer17)
c.969del (p.Phe323LeufsTer17)
c.936del (p.Phe312LeufsTer17)
c.903del (p.Phe301LeufsTer17)
 dbSNP gnomAD v4
4g.76112506_76112507delCA2578118483ART3,NUP54c.1190_1191del (p.Phe397CysfsTer6)
c.*1431_*1432del (n.*1431_*1432del)
c.1058_1059del (p.Phe353CysfsTer6)
c.1157_1158del (p.Phe386CysfsTer6)
c.1091_1092del (p.Phe364CysfsTer6)
c.1124_1125del (p.Phe375CysfsTer6)
n.292_293del
n.388_389del
n.355_356del
n.597_598del
n.699_700del
c.1061_1062del (p.Phe354CysfsTer6)
c.1160_1161del (p.Phe387CysfsTer6)
c.1094_1095del (p.Phe365CysfsTer6)
c.1034_1035del (p.Phe345CysfsTer6)
c.1127_1128del (p.Phe376CysfsTer6)
n.2513_2514del
n.2954_2955del
c.1028_1029del (p.Phe343CysfsTer6)
c.995_996del (p.Phe332CysfsTer6)
c.968_969del (p.Phe323CysfsTer6)
c.935_936del (p.Phe312CysfsTer6)
c.902_903del (p.Phe301CysfsTer6)
4g.76112506T>ACA357302512ART3,NUP54c.1190T>A (p.Phe397Tyr)
c.*1431A>T (n.*1431A>T)
c.1058T>A (p.Phe353Tyr)
c.1157T>A (p.Phe386Tyr)
c.1091T>A (p.Phe364Tyr)
c.1124T>A (p.Phe375Tyr)
n.292T>A
n.388T>A
n.355T>A
n.597T>A
n.699T>A
c.1061T>A (p.Phe354Tyr)
c.1160T>A (p.Phe387Tyr)
c.1094T>A (p.Phe365Tyr)
c.1034T>A (p.Phe345Tyr)
c.1127T>A (p.Phe376Tyr)
n.2513T>A
n.2954T>A
c.1028T>A (p.Phe343Tyr)
c.995T>A (p.Phe332Tyr)
c.968T>A (p.Phe323Tyr)
c.935T>A (p.Phe312Tyr)
c.902T>A (p.Phe301Tyr)
4g.76112506T>CCA2969595ART3,NUP54c.1190T>C (p.Phe397Ser)
c.*1431A>G (n.*1431A>G)
c.1058T>C (p.Phe353Ser)
c.1157T>C (p.Phe386Ser)
c.1091T>C (p.Phe364Ser)
c.1124T>C (p.Phe375Ser)
n.292T>C
n.388T>C
n.355T>C
n.597T>C
n.699T>C
c.1061T>C (p.Phe354Ser)
c.1160T>C (p.Phe387Ser)
c.1094T>C (p.Phe365Ser)
c.1034T>C (p.Phe345Ser)
c.1127T>C (p.Phe376Ser)
n.2513T>C
n.2954T>C
c.1028T>C (p.Phe343Ser)
c.995T>C (p.Phe332Ser)
c.968T>C (p.Phe323Ser)
c.935T>C (p.Phe312Ser)
c.902T>C (p.Phe301Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112506T>GCA357302514ART3,NUP54c.1190T>G (p.Phe397Cys)
c.*1431A>C (n.*1431A>C)
c.1058T>G (p.Phe353Cys)
c.1157T>G (p.Phe386Cys)
c.1091T>G (p.Phe364Cys)
c.1124T>G (p.Phe375Cys)
n.292T>G
n.388T>G
n.355T>G
n.597T>G
n.699T>G
c.1061T>G (p.Phe354Cys)
c.1160T>G (p.Phe387Cys)
c.1094T>G (p.Phe365Cys)
c.1034T>G (p.Phe345Cys)
c.1127T>G (p.Phe376Cys)
n.2513T>G
n.2954T>G
c.1028T>G (p.Phe343Cys)
c.995T>G (p.Phe332Cys)
c.968T>G (p.Phe323Cys)
c.935T>G (p.Phe312Cys)
c.902T>G (p.Phe301Cys)
4g.76112506T=CA1469471111ART3,NUP54c.1190T= (p.Phe397=)
c.*1431A= (n.*1431A=)
c.1058T= (p.Phe353=)
c.1157T= (p.Phe386=)
c.1091T= (p.Phe364=)
c.1124T= (p.Phe375=)
n.292T=
n.388T=
n.355T=
n.597T=
n.699T=
c.1061T= (p.Phe354=)
c.1160T= (p.Phe387=)
c.1094T= (p.Phe365=)
c.1034T= (p.Phe345=)
c.1127T= (p.Phe376=)
n.2513T=
n.2954T=
c.1028T= (p.Phe343=)
c.995T= (p.Phe332=)
c.968T= (p.Phe323=)
c.935T= (p.Phe312=)
c.902T= (p.Phe301=)
4g.76112507T>ACA357302516ART3,NUP54c.1191T>A (p.Phe397Leu)
c.*1430A>T (n.*1430A>T)
c.1059T>A (p.Phe353Leu)
c.1158T>A (p.Phe386Leu)
c.1092T>A (p.Phe364Leu)
c.1125T>A (p.Phe375Leu)
n.293T>A
n.389T>A
n.356T>A
n.598T>A
n.700T>A
c.1062T>A (p.Phe354Leu)
c.1161T>A (p.Phe387Leu)
c.1095T>A (p.Phe365Leu)
c.1035T>A (p.Phe345Leu)
c.1128T>A (p.Phe376Leu)
n.2514T>A
n.2955T>A
c.1029T>A (p.Phe343Leu)
c.996T>A (p.Phe332Leu)
c.969T>A (p.Phe323Leu)
c.936T>A (p.Phe312Leu)
c.903T>A (p.Phe301Leu)
4g.76112507T>CCA439953525ART3,NUP54c.1191T>C (p.Phe397=)
c.*1430A>G (n.*1430A>G)
c.1059T>C (p.Phe353=)
c.1158T>C (p.Phe386=)
c.1092T>C (p.Phe364=)
c.1125T>C (p.Phe375=)
n.293T>C
n.389T>C
n.356T>C
n.598T>C
n.700T>C
c.1062T>C (p.Phe354=)
c.1161T>C (p.Phe387=)
c.1095T>C (p.Phe365=)
c.1035T>C (p.Phe345=)
c.1128T>C (p.Phe376=)
n.2514T>C
n.2955T>C
c.1029T>C (p.Phe343=)
c.996T>C (p.Phe332=)
c.969T>C (p.Phe323=)
c.936T>C (p.Phe312=)
c.903T>C (p.Phe301=)
 gnomAD v4
4g.76112507T>GCA357302518ART3,NUP54c.1191T>G (p.Phe397Leu)
c.*1430A>C (n.*1430A>C)
c.1059T>G (p.Phe353Leu)
c.1158T>G (p.Phe386Leu)
c.1092T>G (p.Phe364Leu)
c.1125T>G (p.Phe375Leu)
n.293T>G
n.389T>G
n.356T>G
n.598T>G
n.700T>G
c.1062T>G (p.Phe354Leu)
c.1161T>G (p.Phe387Leu)
c.1095T>G (p.Phe365Leu)
c.1035T>G (p.Phe345Leu)
c.1128T>G (p.Phe376Leu)
n.2514T>G
n.2955T>G
c.1029T>G (p.Phe343Leu)
c.996T>G (p.Phe332Leu)
c.969T>G (p.Phe323Leu)
c.936T>G (p.Phe312Leu)
c.903T>G (p.Phe301Leu)
4g.76112508G>ACA357302520ART3,NUP54c.1192G>A (p.Val398Ile)
c.*1429C>T (n.*1429C>T)
c.1060G>A (p.Val354Ile)
c.1159G>A (p.Val387Ile)
c.1093G>A (p.Val365Ile)
c.1126G>A (p.Val376Ile)
n.294G>A
n.390G>A
n.357G>A
n.599G>A
n.701G>A
c.1063G>A (p.Val355Ile)
c.1162G>A (p.Val388Ile)
c.1096G>A (p.Val366Ile)
c.1036G>A (p.Val346Ile)
c.1129G>A (p.Val377Ile)
n.2515G>A
n.2956G>A
c.1030G>A (p.Val344Ile)
c.997G>A (p.Val333Ile)
c.970G>A (p.Val324Ile)
c.937G>A (p.Val313Ile)
c.904G>A (p.Val302Ile)
 gnomAD v4
4g.76112508G>CCA357302522ART3,NUP54c.1192G>C (p.Val398Leu)
c.*1429C>G (n.*1429C>G)
c.1060G>C (p.Val354Leu)
c.1159G>C (p.Val387Leu)
c.1093G>C (p.Val365Leu)
c.1126G>C (p.Val376Leu)
n.294G>C
n.390G>C
n.357G>C
n.599G>C
n.701G>C
c.1063G>C (p.Val355Leu)
c.1162G>C (p.Val388Leu)
c.1096G>C (p.Val366Leu)
c.1036G>C (p.Val346Leu)
c.1129G>C (p.Val377Leu)
n.2515G>C
n.2956G>C
c.1030G>C (p.Val344Leu)
c.997G>C (p.Val333Leu)
c.970G>C (p.Val324Leu)
c.937G>C (p.Val313Leu)
c.904G>C (p.Val302Leu)
4g.76112508G>TCA357302524ART3,NUP54c.1192G>T (p.Val398Phe)
c.*1429C>A (n.*1429C>A)
c.1060G>T (p.Val354Phe)
c.1159G>T (p.Val387Phe)
c.1093G>T (p.Val365Phe)
c.1126G>T (p.Val376Phe)
n.294G>T
n.390G>T
n.357G>T
n.599G>T
n.701G>T
c.1063G>T (p.Val355Phe)
c.1162G>T (p.Val388Phe)
c.1096G>T (p.Val366Phe)
c.1036G>T (p.Val346Phe)
c.1129G>T (p.Val377Phe)
n.2515G>T
n.2956G>T
c.1030G>T (p.Val344Phe)
c.997G>T (p.Val333Phe)
c.970G>T (p.Val324Phe)
c.937G>T (p.Val313Phe)
c.904G>T (p.Val302Phe)
4g.76112509T>ACA357302526ART3,NUP54c.1193T>A (p.Val398Asp)
c.*1428A>T (n.*1428A>T)
c.1061T>A (p.Val354Asp)
c.1160T>A (p.Val387Asp)
c.1094T>A (p.Val365Asp)
c.1127T>A (p.Val376Asp)
n.295T>A
n.391T>A
n.358T>A
n.600T>A
n.702T>A
c.1064T>A (p.Val355Asp)
c.1163T>A (p.Val388Asp)
c.1097T>A (p.Val366Asp)
c.1037T>A (p.Val346Asp)
c.1130T>A (p.Val377Asp)
n.2516T>A
n.2957T>A
c.1031T>A (p.Val344Asp)
c.998T>A (p.Val333Asp)
c.971T>A (p.Val324Asp)
c.938T>A (p.Val313Asp)
c.905T>A (p.Val302Asp)
 gnomAD v4
4g.76112509T>CCA357302528ART3,NUP54c.1193T>C (p.Val398Ala)
c.*1428A>G (n.*1428A>G)
c.1061T>C (p.Val354Ala)
c.1160T>C (p.Val387Ala)
c.1094T>C (p.Val365Ala)
c.1127T>C (p.Val376Ala)
n.295T>C
n.391T>C
n.358T>C
n.600T>C
n.702T>C
c.1064T>C (p.Val355Ala)
c.1163T>C (p.Val388Ala)
c.1097T>C (p.Val366Ala)
c.1037T>C (p.Val346Ala)
c.1130T>C (p.Val377Ala)
n.2516T>C
n.2957T>C
c.1031T>C (p.Val344Ala)
c.998T>C (p.Val333Ala)
c.971T>C (p.Val324Ala)
c.938T>C (p.Val313Ala)
c.905T>C (p.Val302Ala)
 gnomAD v4
4g.76112509T>GCA357302530ART3,NUP54c.1193T>G (p.Val398Gly)
c.*1428A>C (n.*1428A>C)
c.1061T>G (p.Val354Gly)
c.1160T>G (p.Val387Gly)
c.1094T>G (p.Val365Gly)
c.1127T>G (p.Val376Gly)
n.295T>G
n.391T>G
n.358T>G
n.600T>G
n.702T>G
c.1064T>G (p.Val355Gly)
c.1163T>G (p.Val388Gly)
c.1097T>G (p.Val366Gly)
c.1037T>G (p.Val346Gly)
c.1130T>G (p.Val377Gly)
n.2516T>G
n.2957T>G
c.1031T>G (p.Val344Gly)
c.998T>G (p.Val333Gly)
c.971T>G (p.Val324Gly)
c.938T>G (p.Val313Gly)
c.905T>G (p.Val302Gly)
4g.76112510T>ACA439953528ART3,NUP54c.1194T>A (p.Val398=)
c.*1427A>T (n.*1427A>T)
c.1062T>A (p.Val354=)
c.1161T>A (p.Val387=)
c.1095T>A (p.Val365=)
c.1128T>A (p.Val376=)
n.296T>A
n.392T>A
n.359T>A
n.601T>A
n.703T>A
c.1065T>A (p.Val355=)
c.1164T>A (p.Val388=)
c.1098T>A (p.Val366=)
c.1038T>A (p.Val346=)
c.1131T>A (p.Val377=)
n.2517T>A
n.2958T>A
c.1032T>A (p.Val344=)
c.999T>A (p.Val333=)
c.972T>A (p.Val324=)
c.939T>A (p.Val313=)
c.906T>A (p.Val302=)
4g.76112510T>CCA439953526ART3,NUP54c.1194T>C (p.Val398=)
c.*1427A>G (n.*1427A>G)
c.1062T>C (p.Val354=)
c.1161T>C (p.Val387=)
c.1095T>C (p.Val365=)
c.1128T>C (p.Val376=)
n.296T>C
n.392T>C
n.359T>C
n.601T>C
n.703T>C
c.1065T>C (p.Val355=)
c.1164T>C (p.Val388=)
c.1098T>C (p.Val366=)
c.1038T>C (p.Val346=)
c.1131T>C (p.Val377=)
n.2517T>C
n.2958T>C
c.1032T>C (p.Val344=)
c.999T>C (p.Val333=)
c.972T>C (p.Val324=)
c.939T>C (p.Val313=)
c.906T>C (p.Val302=)
 dbSNP
4g.76112510T>GCA439953527ART3,NUP54c.1194T>G (p.Val398=)
c.*1427A>C (n.*1427A>C)
c.1062T>G (p.Val354=)
c.1161T>G (p.Val387=)
c.1095T>G (p.Val365=)
c.1128T>G (p.Val376=)
n.296T>G
n.392T>G
n.359T>G
n.601T>G
n.703T>G
c.1065T>G (p.Val355=)
c.1164T>G (p.Val388=)
c.1098T>G (p.Val366=)
c.1038T>G (p.Val346=)
c.1131T>G (p.Val377=)
n.2517T>G
n.2958T>G
c.1032T>G (p.Val344=)
c.999T>G (p.Val333=)
c.972T>G (p.Val324=)
c.939T>G (p.Val313=)
c.906T>G (p.Val302=)
4g.76112510T=CA1469471113ART3,NUP54c.1194T= (p.Val398=)
c.*1427A= (n.*1427A=)
c.1062T= (p.Val354=)
c.1161T= (p.Val387=)
c.1095T= (p.Val365=)
c.1128T= (p.Val376=)
n.296T=
n.392T=
n.359T=
n.601T=
n.703T=
c.1065T= (p.Val355=)
c.1164T= (p.Val388=)
c.1098T= (p.Val366=)
c.1038T= (p.Val346=)
c.1131T= (p.Val377=)
n.2517T=
n.2958T=
c.1032T= (p.Val344=)
c.999T= (p.Val333=)
c.972T= (p.Val324=)
c.939T= (p.Val313=)
c.906T= (p.Val302=)
4g.76112511G>ACA357302533ART3,NUP54c.1195G>A (p.Ala399Thr)
c.*1426C>T (n.*1426C>T)
c.1063G>A (p.Ala355Thr)
c.1162G>A (p.Ala388Thr)
c.1096G>A (p.Ala366Thr)
c.1129G>A (p.Ala377Thr)
n.297G>A
n.393G>A
n.360G>A
n.602G>A
n.704G>A
c.1066G>A (p.Ala356Thr)
c.1165G>A (p.Ala389Thr)
c.1099G>A (p.Ala367Thr)
c.1039G>A (p.Ala347Thr)
c.1132G>A (p.Ala378Thr)
n.2518G>A
n.2959G>A
c.1033G>A (p.Ala345Thr)
c.1000G>A (p.Ala334Thr)
c.973G>A (p.Ala325Thr)
c.940G>A (p.Ala314Thr)
c.907G>A (p.Ala303Thr)
 gnomAD v4
4g.76112511G>CCA357302534ART3,NUP54c.1195G>C (p.Ala399Pro)
c.*1426C>G (n.*1426C>G)
c.1063G>C (p.Ala355Pro)
c.1162G>C (p.Ala388Pro)
c.1096G>C (p.Ala366Pro)
c.1129G>C (p.Ala377Pro)
n.297G>C
n.393G>C
n.360G>C
n.602G>C
n.704G>C
c.1066G>C (p.Ala356Pro)
c.1165G>C (p.Ala389Pro)
c.1099G>C (p.Ala367Pro)
c.1039G>C (p.Ala347Pro)
c.1132G>C (p.Ala378Pro)
n.2518G>C
n.2959G>C
c.1033G>C (p.Ala345Pro)
c.1000G>C (p.Ala334Pro)
c.973G>C (p.Ala325Pro)
c.940G>C (p.Ala314Pro)
c.907G>C (p.Ala303Pro)
 gnomAD v4
4g.76112511G>TCA357302532ART3,NUP54c.1195G>T (p.Ala399Ser)
c.*1426C>A (n.*1426C>A)
c.1063G>T (p.Ala355Ser)
c.1162G>T (p.Ala388Ser)
c.1096G>T (p.Ala366Ser)
c.1129G>T (p.Ala377Ser)
n.297G>T
n.393G>T
n.360G>T
n.602G>T
n.704G>T
c.1066G>T (p.Ala356Ser)
c.1165G>T (p.Ala389Ser)
c.1099G>T (p.Ala367Ser)
c.1039G>T (p.Ala347Ser)
c.1132G>T (p.Ala378Ser)
n.2518G>T
n.2959G>T
c.1033G>T (p.Ala345Ser)
c.1000G>T (p.Ala334Ser)
c.973G>T (p.Ala325Ser)
c.940G>T (p.Ala314Ser)
c.907G>T (p.Ala303Ser)
4g.76112512C>ACA357302536ART3,NUP54c.1196C>A (p.Ala399Asp)
c.*1425G>T (n.*1425G>T)
c.1064C>A (p.Ala355Asp)
c.1163C>A (p.Ala388Asp)
c.1097C>A (p.Ala366Asp)
c.1130C>A (p.Ala377Asp)
n.298C>A
n.394C>A
n.361C>A
n.603C>A
n.705C>A
c.1067C>A (p.Ala356Asp)
c.1166C>A (p.Ala389Asp)
c.1100C>A (p.Ala367Asp)
c.1040C>A (p.Ala347Asp)
c.1133C>A (p.Ala378Asp)
n.2519C>A
n.2960C>A
c.1034C>A (p.Ala345Asp)
c.1001C>A (p.Ala334Asp)
c.974C>A (p.Ala325Asp)
c.941C>A (p.Ala314Asp)
c.908C>A (p.Ala303Asp)
 gnomAD v4
4g.76112512C>GCA357302537ART3,NUP54c.1196C>G (p.Ala399Gly)
c.*1425G>C (n.*1425G>C)
c.1064C>G (p.Ala355Gly)
c.1163C>G (p.Ala388Gly)
c.1097C>G (p.Ala366Gly)
c.1130C>G (p.Ala377Gly)
n.298C>G
n.394C>G
n.361C>G
n.603C>G
n.705C>G
c.1067C>G (p.Ala356Gly)
c.1166C>G (p.Ala389Gly)
c.1100C>G (p.Ala367Gly)
c.1040C>G (p.Ala347Gly)
c.1133C>G (p.Ala378Gly)
n.2519C>G
n.2960C>G
c.1034C>G (p.Ala345Gly)
c.1001C>G (p.Ala334Gly)
c.974C>G (p.Ala325Gly)
c.941C>G (p.Ala314Gly)
c.908C>G (p.Ala303Gly)
4g.76112512C>TCA357302538ART3,NUP54c.1196C>T (p.Ala399Val)
c.*1425G>A (n.*1425G>A)
c.1064C>T (p.Ala355Val)
c.1163C>T (p.Ala388Val)
c.1097C>T (p.Ala366Val)
c.1130C>T (p.Ala377Val)
n.298C>T
n.394C>T
n.361C>T
n.603C>T
n.705C>T
c.1067C>T (p.Ala356Val)
c.1166C>T (p.Ala389Val)
c.1100C>T (p.Ala367Val)
c.1040C>T (p.Ala347Val)
c.1133C>T (p.Ala378Val)
n.2519C>T
n.2960C>T
c.1034C>T (p.Ala345Val)
c.1001C>T (p.Ala334Val)
c.974C>T (p.Ala325Val)
c.941C>T (p.Ala314Val)
c.908C>T (p.Ala303Val)
 gnomAD v4
4g.76112513T>ACA439953529ART3,NUP54c.1197T>A (p.Ala399=)
c.*1424A>T (n.*1424A>T)
c.1065T>A (p.Ala355=)
c.1164T>A (p.Ala388=)
c.1098T>A (p.Ala366=)
c.1131T>A (p.Ala377=)
n.299T>A
n.395T>A
n.362T>A
n.604T>A
n.706T>A
c.1068T>A (p.Ala356=)
c.1167T>A (p.Ala389=)
c.1101T>A (p.Ala367=)
c.1041T>A (p.Ala347=)
c.1134T>A (p.Ala378=)
n.2520T>A
n.2961T>A
c.1035T>A (p.Ala345=)
c.1002T>A (p.Ala334=)
c.975T>A (p.Ala325=)
c.942T>A (p.Ala314=)
c.909T>A (p.Ala303=)
4g.76112513T>CCA439953530ART3,NUP54c.1197T>C (p.Ala399=)
c.*1424A>G (n.*1424A>G)
c.1065T>C (p.Ala355=)
c.1164T>C (p.Ala388=)
c.1098T>C (p.Ala366=)
c.1131T>C (p.Ala377=)
n.299T>C
n.395T>C
n.362T>C
n.604T>C
n.706T>C
c.1068T>C (p.Ala356=)
c.1167T>C (p.Ala389=)
c.1101T>C (p.Ala367=)
c.1041T>C (p.Ala347=)
c.1134T>C (p.Ala378=)
n.2520T>C
n.2961T>C
c.1035T>C (p.Ala345=)
c.1002T>C (p.Ala334=)
c.975T>C (p.Ala325=)
c.942T>C (p.Ala314=)
c.909T>C (p.Ala303=)
4g.76112513T>GCA439953531ART3,NUP54c.1197T>G (p.Ala399=)
c.*1424A>C (n.*1424A>C)
c.1065T>G (p.Ala355=)
c.1164T>G (p.Ala388=)
c.1098T>G (p.Ala366=)
c.1131T>G (p.Ala377=)
n.299T>G
n.395T>G
n.362T>G
n.604T>G
n.706T>G
c.1068T>G (p.Ala356=)
c.1167T>G (p.Ala389=)
c.1101T>G (p.Ala367=)
c.1041T>G (p.Ala347=)
c.1134T>G (p.Ala378=)
n.2520T>G
n.2961T>G
c.1035T>G (p.Ala345=)
c.1002T>G (p.Ala334=)
c.975T>G (p.Ala325=)
c.942T>G (p.Ala314=)
c.909T>G (p.Ala303=)
4g.76112514C>ACA357302539ART3,NUP54c.1198C>A (p.Leu400Met)
c.*1423G>T (n.*1423G>T)
c.1066C>A (p.Leu356Met)
c.1165C>A (p.Leu389Met)
c.1099C>A (p.Leu367Met)
c.1132C>A (p.Leu378Met)
n.300C>A
n.396C>A
n.363C>A
n.605C>A
n.707C>A
c.1069C>A (p.Leu357Met)
c.1168C>A (p.Leu390Met)
c.1102C>A (p.Leu368Met)
c.1042C>A (p.Leu348Met)
c.1135C>A (p.Leu379Met)
n.2521C>A
n.2962C>A
c.1036C>A (p.Leu346Met)
c.1003C>A (p.Leu335Met)
c.976C>A (p.Leu326Met)
c.943C>A (p.Leu315Met)
c.910C>A (p.Leu304Met)
4g.76112514C>GCA357302540ART3,NUP54c.1198C>G (p.Leu400Val)
c.*1423G>C (n.*1423G>C)
c.1066C>G (p.Leu356Val)
c.1165C>G (p.Leu389Val)
c.1099C>G (p.Leu367Val)
c.1132C>G (p.Leu378Val)
n.300C>G
n.396C>G
n.363C>G
n.605C>G
n.707C>G
c.1069C>G (p.Leu357Val)
c.1168C>G (p.Leu390Val)
c.1102C>G (p.Leu368Val)
c.1042C>G (p.Leu348Val)
c.1135C>G (p.Leu379Val)
n.2521C>G
n.2962C>G
c.1036C>G (p.Leu346Val)
c.1003C>G (p.Leu335Val)
c.976C>G (p.Leu326Val)
c.943C>G (p.Leu315Val)
c.910C>G (p.Leu304Val)
4g.76112514C>TCA439953532ART3,NUP54c.1198C>T (p.Leu400=)
c.*1423G>A (n.*1423G>A)
c.1066C>T (p.Leu356=)
c.1165C>T (p.Leu389=)
c.1099C>T (p.Leu367=)
c.1132C>T (p.Leu378=)
n.300C>T
n.396C>T
n.363C>T
n.605C>T
n.707C>T
c.1069C>T (p.Leu357=)
c.1168C>T (p.Leu390=)
c.1102C>T (p.Leu368=)
c.1042C>T (p.Leu348=)
c.1135C>T (p.Leu379=)
n.2521C>T
n.2962C>T
c.1036C>T (p.Leu346=)
c.1003C>T (p.Leu335=)
c.976C>T (p.Leu326=)
c.943C>T (p.Leu315=)
c.910C>T (p.Leu304=)
4g.76112515T>ACA357302541ART3,NUP54c.1199T>A (p.Leu400Gln)
c.*1422A>T (n.*1422A>T)
c.1067T>A (p.Leu356Gln)
c.1166T>A (p.Leu389Gln)
c.1100T>A (p.Leu367Gln)
c.1133T>A (p.Leu378Gln)
n.301T>A
n.397T>A
n.364T>A
n.606T>A
n.708T>A
c.1070T>A (p.Leu357Gln)
c.1169T>A (p.Leu390Gln)
c.1103T>A (p.Leu368Gln)
c.1043T>A (p.Leu348Gln)
c.1136T>A (p.Leu379Gln)
n.2522T>A
n.2963T>A
c.1037T>A (p.Leu346Gln)
c.1004T>A (p.Leu335Gln)
c.977T>A (p.Leu326Gln)
c.944T>A (p.Leu315Gln)
c.911T>A (p.Leu304Gln)
4g.76112515T>CCA2969596ART3,NUP54c.1199T>C (p.Leu400Pro)
c.*1422A>G (n.*1422A>G)
c.1067T>C (p.Leu356Pro)
c.1166T>C (p.Leu389Pro)
c.1100T>C (p.Leu367Pro)
c.1133T>C (p.Leu378Pro)
n.301T>C
n.397T>C
n.364T>C
n.606T>C
n.708T>C
c.1070T>C (p.Leu357Pro)
c.1169T>C (p.Leu390Pro)
c.1103T>C (p.Leu368Pro)
c.1043T>C (p.Leu348Pro)
c.1136T>C (p.Leu379Pro)
n.2522T>C
n.2963T>C
c.1037T>C (p.Leu346Pro)
c.1004T>C (p.Leu335Pro)
c.977T>C (p.Leu326Pro)
c.944T>C (p.Leu315Pro)
c.911T>C (p.Leu304Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112515T>GCA357302544ART3,NUP54c.1199T>G (p.Leu400Arg)
c.*1422A>C (n.*1422A>C)
c.1067T>G (p.Leu356Arg)
c.1166T>G (p.Leu389Arg)
c.1100T>G (p.Leu367Arg)
c.1133T>G (p.Leu378Arg)
n.301T>G
n.397T>G
n.364T>G
n.606T>G
n.708T>G
c.1070T>G (p.Leu357Arg)
c.1169T>G (p.Leu390Arg)
c.1103T>G (p.Leu368Arg)
c.1043T>G (p.Leu348Arg)
c.1136T>G (p.Leu379Arg)
n.2522T>G
n.2963T>G
c.1037T>G (p.Leu346Arg)
c.1004T>G (p.Leu335Arg)
c.977T>G (p.Leu326Arg)
c.944T>G (p.Leu315Arg)
c.911T>G (p.Leu304Arg)
4g.76112515T=CA1469471116ART3,NUP54c.1199T= (p.Leu400=)
c.*1422A= (n.*1422A=)
c.1067T= (p.Leu356=)
c.1166T= (p.Leu389=)
c.1100T= (p.Leu367=)
c.1133T= (p.Leu378=)
n.301T=
n.397T=
n.364T=
n.606T=
n.708T=
c.1070T= (p.Leu357=)
c.1169T= (p.Leu390=)
c.1103T= (p.Leu368=)
c.1043T= (p.Leu348=)
c.1136T= (p.Leu379=)
n.2522T=
n.2963T=
c.1037T= (p.Leu346=)
c.1004T= (p.Leu335=)
c.977T= (p.Leu326=)
c.944T= (p.Leu315=)
c.911T= (p.Leu304=)
4g.76112516G>ACA2969597ART3,NUP54c.1200G>A (p.Leu400=)
c.*1421C>T (n.*1421C>T)
c.1068G>A (p.Leu356=)
c.1167G>A (p.Leu389=)
c.1101G>A (p.Leu367=)
c.1134G>A (p.Leu378=)
n.302G>A
n.398G>A
n.365G>A
n.607G>A
n.709G>A
c.1071G>A (p.Leu357=)
c.1170G>A (p.Leu390=)
c.1104G>A (p.Leu368=)
c.1044G>A (p.Leu348=)
c.1137G>A (p.Leu379=)
n.2523G>A
n.2964G>A
c.1038G>A (p.Leu346=)
c.1005G>A (p.Leu335=)
c.978G>A (p.Leu326=)
c.945G>A (p.Leu315=)
c.912G>A (p.Leu304=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.76112516G>CCA439953533ART3,NUP54c.1200G>C (p.Leu400=)
c.*1421C>G (n.*1421C>G)
c.1068G>C (p.Leu356=)
c.1167G>C (p.Leu389=)
c.1101G>C (p.Leu367=)
c.1134G>C (p.Leu378=)
n.302G>C
n.398G>C
n.365G>C
n.607G>C
n.709G>C
c.1071G>C (p.Leu357=)
c.1170G>C (p.Leu390=)
c.1104G>C (p.Leu368=)
c.1044G>C (p.Leu348=)
c.1137G>C (p.Leu379=)
n.2523G>C
n.2964G>C
c.1038G>C (p.Leu346=)
c.1005G>C (p.Leu335=)
c.978G>C (p.Leu326=)
c.945G>C (p.Leu315=)
c.912G>C (p.Leu304=)
4g.76112516G=CA1469471119ART3,NUP54c.1200G= (p.Leu400=)
c.*1421C= (n.*1421C=)
c.1068G= (p.Leu356=)
c.1167G= (p.Leu389=)
c.1101G= (p.Leu367=)
c.1134G= (p.Leu378=)
n.302G=
n.398G=
n.365G=
n.607G=
n.709G=
c.1071G= (p.Leu357=)
c.1170G= (p.Leu390=)
c.1104G= (p.Leu368=)
c.1044G= (p.Leu348=)
c.1137G= (p.Leu379=)
n.2523G=
n.2964G=
c.1038G= (p.Leu346=)
c.1005G= (p.Leu335=)
c.978G= (p.Leu326=)
c.945G= (p.Leu315=)
c.912G= (p.Leu304=)
4g.76112516G>TCA439953534ART3,NUP54c.1200G>T (p.Leu400=)
c.*1421C>A (n.*1421C>A)
c.1068G>T (p.Leu356=)
c.1167G>T (p.Leu389=)
c.1101G>T (p.Leu367=)
c.1134G>T (p.Leu378=)
n.302G>T
n.398G>T
n.365G>T
n.607G>T
n.709G>T
c.1071G>T (p.Leu357=)
c.1170G>T (p.Leu390=)
c.1104G>T (p.Leu368=)
c.1044G>T (p.Leu348=)
c.1137G>T (p.Leu379=)
n.2523G>T
n.2964G>T
c.1038G>T (p.Leu346=)
c.1005G>T (p.Leu335=)
c.978G>T (p.Leu326=)
c.945G>T (p.Leu315=)
c.912G>T (p.Leu304=)
4g.76112517T>ACA357302547ART3,NUP54c.1201T>A (p.Ter401Lys)
c.*1420A>T (n.*1420A>T)
c.1069T>A (p.Ter357Lys)
c.1168T>A (p.Ter390Lys)
c.1102T>A (p.Ter368Lys)
c.1135T>A (p.Ter379Lys)
n.303T>A
n.399T>A
n.366T>A
n.608T>A
n.710T>A
c.1072T>A (p.Ter358Lys)
c.1171T>A (p.Ter391Lys)
c.1105T>A (p.Ter369Lys)
c.1045T>A (p.Ter349Lys)
c.1138T>A (p.Ter380Lys)
n.2524T>A
n.2965T>A
c.1039T>A (p.Ter347Lys)
c.1006T>A (p.Ter336Lys)
c.979T>A (p.Ter327Lys)
c.946T>A (p.Ter316Lys)
c.913T>A (p.Ter305Lys)
4g.76112517T>CCA357302548ART3,NUP54c.1201T>C (p.Ter401Gln)
c.*1420A>G (n.*1420A>G)
c.1069T>C (p.Ter357Gln)
c.1168T>C (p.Ter390Gln)
c.1102T>C (p.Ter368Gln)
c.1135T>C (p.Ter379Gln)
n.303T>C
n.399T>C
n.366T>C
n.608T>C
n.710T>C
c.1072T>C (p.Ter358Gln)
c.1171T>C (p.Ter391Gln)
c.1105T>C (p.Ter369Gln)
c.1045T>C (p.Ter349Gln)
c.1138T>C (p.Ter380Gln)
n.2524T>C
n.2965T>C
c.1039T>C (p.Ter347Gln)
c.1006T>C (p.Ter336Gln)
c.979T>C (p.Ter327Gln)
c.946T>C (p.Ter316Gln)
c.913T>C (p.Ter305Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.76112517T>GCA357302549ART3,NUP54c.1201T>G (p.Ter401Glu)
c.*1420A>C (n.*1420A>C)
c.1069T>G (p.Ter357Glu)
c.1168T>G (p.Ter390Glu)
c.1102T>G (p.Ter368Glu)
c.1135T>G (p.Ter379Glu)
n.303T>G
n.399T>G
n.366T>G
n.608T>G
n.710T>G
c.1072T>G (p.Ter358Glu)
c.1171T>G (p.Ter391Glu)
c.1105T>G (p.Ter369Glu)
c.1045T>G (p.Ter349Glu)
c.1138T>G (p.Ter380Glu)
n.2524T>G
n.2965T>G
c.1039T>G (p.Ter347Glu)
c.1006T>G (p.Ter336Glu)
c.979T>G (p.Ter327Glu)
c.946T>G (p.Ter316Glu)
c.913T>G (p.Ter305Glu)
4g.76112517T=CA1469471122ART3,NUP54c.1201T= (p.Ter401=)
c.*1420A= (n.*1420A=)
c.1069T= (p.Ter357=)
c.1168T= (p.Ter390=)
c.1102T= (p.Ter368=)
c.1135T= (p.Ter379=)
n.303T=
n.399T=
n.366T=
n.608T=
n.710T=
c.1072T= (p.Ter358=)
c.1171T= (p.Ter391=)
c.1105T= (p.Ter369=)
c.1045T= (p.Ter349=)
c.1138T= (p.Ter380=)
n.2524T=
n.2965T=
c.1039T= (p.Ter347=)
c.1006T= (p.Ter336=)
c.979T= (p.Ter327=)
c.946T= (p.Ter316=)
c.913T= (p.Ter305=)
4g.76112518A>CCA357302551ART3,NUP54c.1202A>C (p.Ter401Ser)
c.*1419T>G (n.*1419T>G)
c.1070A>C (p.Ter357Ser)
c.1169A>C (p.Ter390Ser)
c.1103A>C (p.Ter368Ser)
c.1136A>C (p.Ter379Ser)
n.304A>C
n.400A>C
n.367A>C
n.609A>C
n.711A>C
c.1073A>C (p.Ter358Ser)
c.1172A>C (p.Ter391Ser)
c.1106A>C (p.Ter369Ser)
c.1046A>C (p.Ter349Ser)
c.1139A>C (p.Ter380Ser)
n.2525A>C
n.2966A>C
c.1040A>C (p.Ter347Ser)
c.1007A>C (p.Ter336Ser)
c.980A>C (p.Ter327Ser)
c.947A>C (p.Ter316Ser)
c.914A>C (p.Ter305Ser)
4g.76112518A>GCA357302552ART3,NUP54c.1202A>G (p.Ter401Trp)
c.*1419T>C (n.*1419T>C)
c.1070A>G (p.Ter357Trp)
c.1169A>G (p.Ter390Trp)
c.1103A>G (p.Ter368Trp)
c.1136A>G (p.Ter379Trp)
n.304A>G
n.400A>G
n.367A>G
n.609A>G
n.711A>G
c.1073A>G (p.Ter358Trp)
c.1172A>G (p.Ter391Trp)
c.1106A>G (p.Ter369Trp)
c.1046A>G (p.Ter349Trp)
c.1139A>G (p.Ter380Trp)
n.2525A>G
n.2966A>G
c.1040A>G (p.Ter347Trp)
c.1007A>G (p.Ter336Trp)
c.980A>G (p.Ter327Trp)
c.947A>G (p.Ter316Trp)
c.914A>G (p.Ter305Trp)
 gnomAD v4
4g.76112518A>TCA357302550ART3,NUP54c.1202A>T (p.Ter401Leu)
c.*1419T>A (n.*1419T>A)
c.1070A>T (p.Ter357Leu)
c.1169A>T (p.Ter390Leu)
c.1103A>T (p.Ter368Leu)
c.1136A>T (p.Ter379Leu)
n.304A>T
n.400A>T
n.367A>T
n.609A>T
n.711A>T
c.1073A>T (p.Ter358Leu)
c.1172A>T (p.Ter391Leu)
c.1106A>T (p.Ter369Leu)
c.1046A>T (p.Ter349Leu)
c.1139A>T (p.Ter380Leu)
n.2525A>T
n.2966A>T
c.1040A>T (p.Ter347Leu)
c.1007A>T (p.Ter336Leu)
c.980A>T (p.Ter327Leu)
c.947A>T (p.Ter316Leu)
c.914A>T (p.Ter305Leu)
4g.76112519G>ACA439953535ART3,NUP54c.1203G>A (p.Ter401=)
c.*1418C>T (n.*1418C>T)
c.1071G>A (p.Ter357=)
c.1170G>A (p.Ter390=)
c.1104G>A (p.Ter368=)
c.1137G>A (p.Ter379=)
n.305G>A
n.401G>A
n.368G>A
n.610G>A
n.712G>A
c.1074G>A (p.Ter358=)
c.1173G>A (p.Ter391=)
c.1107G>A (p.Ter369=)
c.1047G>A (p.Ter349=)
c.1140G>A (p.Ter380=)
n.2526G>A
n.2967G>A
c.1041G>A (p.Ter347=)
c.1008G>A (p.Ter336=)
c.981G>A (p.Ter327=)
c.948G>A (p.Ter316=)
c.915G>A (p.Ter305=)
 gnomAD v4
4g.76112519G>CCA357302553ART3,NUP54c.1203G>C (p.Ter401Tyr)
c.*1418C>G (n.*1418C>G)
c.1071G>C (p.Ter357Tyr)
c.1170G>C (p.Ter390Tyr)
c.1104G>C (p.Ter368Tyr)
c.1137G>C (p.Ter379Tyr)
n.305G>C
n.401G>C
n.368G>C
n.610G>C
n.712G>C
c.1074G>C (p.Ter358Tyr)
c.1173G>C (p.Ter391Tyr)
c.1107G>C (p.Ter369Tyr)
c.1047G>C (p.Ter349Tyr)
c.1140G>C (p.Ter380Tyr)
n.2526G>C
n.2967G>C
c.1041G>C (p.Ter347Tyr)
c.1008G>C (p.Ter336Tyr)
c.981G>C (p.Ter327Tyr)
c.948G>C (p.Ter316Tyr)
c.915G>C (p.Ter305Tyr)
4g.76112519G>TCA357302554ART3,NUP54c.1203G>T (p.Ter401Tyr)
c.*1418C>A (n.*1418C>A)
c.1071G>T (p.Ter357Tyr)
c.1170G>T (p.Ter390Tyr)
c.1104G>T (p.Ter368Tyr)
c.1137G>T (p.Ter379Tyr)
n.305G>T
n.401G>T
n.368G>T
n.610G>T
n.712G>T
c.1074G>T (p.Ter358Tyr)
c.1173G>T (p.Ter391Tyr)
c.1107G>T (p.Ter369Tyr)
c.1047G>T (p.Ter349Tyr)
c.1140G>T (p.Ter380Tyr)
n.2526G>T
n.2967G>T
c.1041G>T (p.Ter347Tyr)
c.1008G>T (p.Ter336Tyr)
c.981G>T (p.Ter327Tyr)
c.948G>T (p.Ter316Tyr)
c.915G>T (p.Ter305Tyr)
4g.76112522T>GCA99837985ART3,NUP54c.*3T>G (n.*3T>G)
c.*1415A>C (n.*1415A>C)
n.308T>G
n.404T>G
n.371T>G
n.613T>G
n.715T>G
n.2529T>G
n.2970T>G
 dbSNP
4g.76112522T=CA1469471124ART3,NUP54c.*3T= (n.*3T=)
c.*1415A= (n.*1415A=)
n.308T=
n.404T=
n.371T=
n.613T=
n.715T=
n.2529T=
n.2970T=
4g.76112523G>CCA2762246201ART3,NUP54c.*4G>C (n.*4G>C)
c.*1414C>G (n.*1414C>G)
n.309G>C
n.405G>C
n.372G>C
n.614G>C
n.716G>C
n.2530G>C
n.2971G>C
4g.76112526G>TCA2762246202ART3,NUP54c.*7G>T (n.*7G>T)
c.*1411C>A (n.*1411C>A)
n.312G>T
n.408G>T
n.375G>T
n.617G>T
n.719G>T
n.2533G>T
n.2974G>T
4g.76112527C=CA1469471126ART3,NUP54c.*8C= (n.*8C=)
c.*1410G= (n.*1410G=)
n.313C=
n.409C=
n.376C=
n.618C=
n.720C=
n.2534C=
n.2975C=
4g.76112527C>TCA1469471127ART3,NUP54c.*8C>T (n.*8C>T)
c.*1410G>A (n.*1410G>A)
n.313C>T
n.409C>T
n.376C>T
n.618C>T
n.720C>T
n.2534C>T
n.2975C>T
 dbSNP gnomAD v4
4g.76112528_76112532delinsATTGTCA1469471129ART3,NUP54c.*9_*13delinsATTGT (n.*9_*13delinsATTGT)
c.*1405_*1409delinsACAAT (n.*1405_*1409delinsACAAT)
n.314_318delinsATTGT
n.410_414delinsATTGT
n.377_381delinsATTGT
n.619_623delinsATTGT
n.721_725delinsATTGT
n.2535_2539delinsATTGT
n.2976_2980delinsATTGT
4g.76112529T>ACA552348286ART3,NUP54c.*10T>A (n.*10T>A)
c.*1408A>T (n.*1408A>T)
n.315T>A
n.411T>A
n.378T>A
n.620T>A
n.722T>A
n.2536T>A
n.2977T>A
 dbSNP gnomAD v2 gnomAD v4
4g.76112529T=CA1469471132ART3,NUP54c.*10T= (n.*10T=)
c.*1408A= (n.*1408A=)
n.315T=
n.411T=
n.378T=
n.620T=
n.722T=
n.2536T=
n.2977T=
4g.76112531_76112534delCA2969598ART3,NUP54c.*12_*15del (n.*12_*15del)
c.*1405_*1408del (n.*1405_*1408del)
n.317_320del
n.413_416del
n.380_383del
n.622_625del
n.724_727del
n.2538_2541del
n.2979_2982del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112531G>ACA552348287ART3,NUP54c.*12G>A (n.*12G>A)
c.*1406C>T (n.*1406C>T)
n.317G>A
n.413G>A
n.380G>A
n.622G>A
n.724G>A
n.2538G>A
n.2979G>A
 dbSNP gnomAD v2 gnomAD v4
4g.76112531G=CA1469471135ART3,NUP54c.*12G= (n.*12G=)
c.*1406C= (n.*1406C=)
n.317G=
n.413G=
n.380G=
n.622G=
n.724G=
n.2538G=
n.2979G=
4g.76112531G>TCA2671060554ART3,NUP54c.*12G>T (n.*12G>T)
c.*1406C>A (n.*1406C>A)
n.317G>T
n.413G>T
n.380G>T
n.622G>T
n.724G>T
n.2538G>T
n.2979G>T
 gnomAD v4
4g.76112531_76112535delinsGTTTACA1469471136ART3,NUP54c.*12_*16delinsGTTTA (n.*12_*16delinsGTTTA)
c.*1402_*1406delinsTAAAC (n.*1402_*1406delinsTAAAC)
n.317_321delinsGTTTA
n.413_417delinsGTTTA
n.380_384delinsGTTTA
n.622_626delinsGTTTA
n.724_728delinsGTTTA
n.2538_2542delinsGTTTA
n.2979_2983delinsGTTTA
4g.76112533_76112536delCA1064324119ART3,NUP54c.*14_*17del (n.*14_*17del)
c.*1402_*1405del (n.*1402_*1405del)
n.319_322del
n.415_418del
n.382_385del
n.624_627del
n.726_729del
n.2540_2543del
n.2981_2984del
 dbSNP gnomAD v3 gnomAD v4
4g.76112534T>ACA552348288ART3,NUP54c.*15T>A (n.*15T>A)
c.*1403A>T (n.*1403A>T)
n.320T>A
n.416T>A
n.383T>A
n.625T>A
n.727T>A
n.2541T>A
n.2982T>A
 dbSNP gnomAD v2 gnomAD v4
4g.76112534T>GCA99837996ART3,NUP54c.*15T>G (n.*15T>G)
c.*1403A>C (n.*1403A>C)
n.320T>G
n.416T>G
n.383T>G
n.625T>G
n.727T>G
n.2541T>G
n.2982T>G
 dbSNP gnomAD v4
4g.76112534T=CA1469471138ART3,NUP54c.*15T= (n.*15T=)
c.*1403A= (n.*1403A=)
n.320T=
n.416T=
n.383T=
n.625T=
n.727T=
n.2541T=
n.2982T=
4g.76112535A=CA1469471141ART3,NUP54c.*16A= (n.*16A=)
c.*1402T= (n.*1402T=)
n.321A=
n.417A=
n.384A=
n.626A=
n.728A=
n.2542A=
n.2983A=
4g.76112535A>CCA2671060558ART3,NUP54c.*16A>C (n.*16A>C)
c.*1402T>G (n.*1402T>G)
n.321A>C
n.417A>C
n.384A>C
n.626A>C
n.728A>C
n.2542A>C
n.2983A>C
 gnomAD v4
4g.76112535A>GCA1469471142ART3,NUP54c.*16A>G (n.*16A>G)
c.*1402T>C (n.*1402T>C)
n.321A>G
n.417A>G
n.384A>G
n.626A>G
n.728A>G
n.2542A>G
n.2983A>G
 dbSNP
4g.76112537_76112543delCA2671060561ART3,NUP54c.*18_*24del (n.*18_*24del)
c.*1395_*1401del (n.*1395_*1401del)
n.628_634del
n.730_736del
n.2544_2550del
n.2985_2991del
 gnomAD v4
4g.76112537C>ACA2671060562ART3,NUP54c.*18C>A (n.*18C>A)
c.*1400G>T (n.*1400G>T)
n.323C>A
n.419C>A
n.386C>A
n.628C>A
n.730C>A
n.2544C>A
n.2985C>A
 gnomAD v4
4g.76112538T>CCA2671060563ART3,NUP54c.*19T>C (n.*19T>C)
c.*1399A>G (n.*1399A>G)
n.629T>C
n.731T>C
n.2545T>C
n.2986T>C
 gnomAD v4
4g.76112540T>CCA2671060564ART3,NUP54c.*21T>C (n.*21T>C)
c.*1397A>G (n.*1397A>G)
n.631T>C
n.733T>C
n.2547T>C
n.2988T>C
 gnomAD v4
4g.76112541C=CA1469471144ART3,NUP54c.*22C= (n.*22C=)
c.*1396G= (n.*1396G=)
n.632C=
n.734C=
n.2548C=
n.2989C=
4g.76112541C>TCA552348289ART3,NUP54c.*22C>T (n.*22C>T)
c.*1396G>A (n.*1396G>A)
n.632C>T
n.734C>T
n.2548C>T
n.2989C>T
 dbSNP gnomAD v2 gnomAD v4
4g.76112543T>ACA2671060568ART3,NUP54c.*24T>A (n.*24T>A)
c.*1394A>T (n.*1394A>T)
n.634T>A
n.736T>A
n.2550T>A
n.2991T>A
 gnomAD v4
4g.76112543T>CCA2578118484ART3,NUP54c.*24T>C (n.*24T>C)
c.*1394A>G (n.*1394A>G)
n.634T>C
n.736T>C
n.2550T>C
n.2991T>C
4g.76112544A>GCA2671060569ART3,NUP54c.*25A>G (n.*25A>G)
c.*1393T>C (n.*1393T>C)
n.635A>G
n.737A>G
n.2551A>G
n.2992A>G
 gnomAD v4
4g.76112544A>TCA2671060570ART3,NUP54c.*25A>T (n.*25A>T)
c.*1393T>A (n.*1393T>A)
n.635A>T
n.737A>T
n.2551A>T
n.2992A>T
 gnomAD v4
4g.76112545T>CCA2671060572ART3,NUP54c.*26T>C (n.*26T>C)
c.*1392A>G (n.*1392A>G)
n.636T>C
n.738T>C
n.2552T>C
n.2993T>C
 gnomAD v4
4g.76112547_76112550delCA2671060571ART3,NUP54c.*28_*31del (n.*28_*31del)
c.*1389_*1392del (n.*1389_*1392del)
n.638_641del
n.740_743del
n.2554_2557del
n.2995_2998del
 gnomAD v4
4g.76112546T>GCA2671060574ART3,NUP54c.*27T>G (n.*27T>G)
c.*1391A>C (n.*1391A>C)
n.637T>G
n.739T>G
n.2553T>G
n.2994T>G
 gnomAD v4
4g.76112546_76112551delinsTCTTTACA1469471147ART3,NUP54c.*27_*32delinsTCTTTA (n.*27_*32delinsTCTTTA)
c.*1386_*1391delinsTAAAGA (n.*1386_*1391delinsTAAAGA)
n.637_642delinsTCTTTA
n.739_744delinsTCTTTA
n.2553_2558delinsTCTTTA
n.2994_2999delinsTCTTTA
4g.76112547C>ACA2671060577ART3,NUP54c.*28C>A (n.*28C>A)
c.*1390G>T (n.*1390G>T)
n.638C>A
n.740C>A
n.2554C>A
n.2995C>A
 gnomAD v4
4g.76112547C=CA1469471150ART3,NUP54c.*28C= (n.*28C=)
c.*1390G= (n.*1390G=)
n.638C=
n.740C=
n.2554C=
n.2995C=
4g.76112547C>TCA2969599ART3,NUP54c.*28C>T (n.*28C>T)
c.*1390G>A (n.*1390G>A)
n.638C>T
n.740C>T
n.2554C>T
n.2995C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112550_76112554delCA1064324123ART3,NUP54c.*31_*35del (n.*31_*35del)
c.*1386_*1390del (n.*1386_*1390del)
n.641_645del
n.743_747del
n.2557_2561del
n.2998_3002del
 dbSNP gnomAD v3 gnomAD v4
4g.76112548T>GCA2578118485ART3,NUP54c.*29T>G (n.*29T>G)
c.*1389A>C (n.*1389A>C)
n.639T>G
n.741T>G
n.2555T>G
n.2996T>G
4g.76112550delCA2671060581ART3,NUP54c.*31del (n.*31del)
c.*1389del (n.*1389del)
n.641del
n.743del
n.2557del
n.2998del
 gnomAD v4
4g.76112549T>GCA798525750ART3,NUP54c.*30T>G (n.*30T>G)
c.*1388A>C (n.*1388A>C)
n.640T>G
n.742T>G
n.2556T>G
n.2997T>G
 dbSNP gnomAD v3 gnomAD v4
4g.76112549T=CA1469471153ART3,NUP54c.*30T= (n.*30T=)
c.*1388A= (n.*1388A=)
n.640T=
n.742T=
n.2556T=
n.2997T=
4g.76112549_76112550insACA2671060582ART3,NUP54c.*30_*31insA (n.*30_*31insA)
c.*1387_*1388insT (n.*1387_*1388insT)
n.640_641insA
n.742_743insA
n.2556_2557insA
n.2997_2998insA
 gnomAD v4
4g.76112550T>GCA798525752ART3,NUP54c.*31T>G (n.*31T>G)
c.*1387A>C (n.*1387A>C)
n.641T>G
n.743T>G
n.2557T>G
n.2998T>G
 dbSNP
4g.76112550T=CA1469471155ART3,NUP54c.*31T= (n.*31T=)
c.*1387A= (n.*1387A=)
n.641T=
n.743T=
n.2557T=
n.2998T=
4g.76112551A>GCA2671060584ART3,NUP54c.*32A>G (n.*32A>G)
c.*1386T>C (n.*1386T>C)
n.642A>G
n.744A>G
n.2558A>G
n.2999A>G
 gnomAD v4
4g.76112552C>ACA2671060586ART3,NUP54c.*33C>A (n.*33C>A)
c.*1385G>T (n.*1385G>T)
n.643C>A
n.745C>A
n.2559C>A
n.3000C>A
 gnomAD v4
4g.76112552_76112553delCA2671060585ART3,NUP54c.*33_*34del (n.*33_*34del)
c.*1384_*1385del (n.*1384_*1385del)
n.643_644del
n.745_746del
n.2559_2560del
n.3000_3001del
 gnomAD v4
4g.76112553_76112558delinsTTGAAACA1469471157ART3,NUP54c.*34_*39delinsTTGAAA (n.*34_*39delinsTTGAAA)
c.*1379_*1384delinsTTTCAA (n.*1379_*1384delinsTTTCAA)
n.644_649delinsTTGAAA
n.746_751delinsTTGAAA
n.2560_2565delinsTTGAAA
n.3001_3006delinsTTGAAA
4g.76112554T>ACA2671060587ART3,NUP54c.*35T>A (n.*35T>A)
c.*1383A>T (n.*1383A>T)
n.645T>A
n.747T>A
n.2561T>A
n.3002T>A
 gnomAD v4
4g.76112554T=CA1469471160ART3,NUP54c.*35T= (n.*35T=)
c.*1383A= (n.*1383A=)
n.645T=
n.747T=
n.2561T=
n.3002T=
4g.76112555_76112559delCA1469471159ART3,NUP54c.*36_*40del (n.*36_*40del)
c.*1379_*1383del (n.*1379_*1383del)
n.646_650del
n.748_752del
n.2562_2566del
n.3003_3007del
 dbSNP gnomAD v4
4g.76112555G>TCA2671060589ART3,NUP54c.*36G>T (n.*36G>T)
c.*1382C>A (n.*1382C>A)
n.646G>T
n.748G>T
n.2562G>T
n.3003G>T
 gnomAD v4
4g.76112555_76112556insGGCA1064324127ART3,NUP54c.*36_*37insGG (n.*36_*37insGG)
c.*1382_*1383insCC (n.*1382_*1383insCC)
n.646_647insGG
n.748_749insGG
n.2562_2563insGG
n.3003_3004insGG
 dbSNP gnomAD v3 gnomAD v4
4g.76112557A=CA1469471162ART3,NUP54c.*38A= (n.*38A=)
c.*1380T= (n.*1380T=)
n.648A=
n.750A=
n.2564A=
n.3005A=
4g.76112557A>GCA1469471163ART3,NUP54c.*38A>G (n.*38A>G)
c.*1380T>C (n.*1380T>C)
n.648A>G
n.750A>G
n.2564A>G
n.3005A>G
 dbSNP gnomAD v4
4g.76112558A=CA1469471165ART3,NUP54c.*39A= (n.*39A=)
c.*1379T= (n.*1379T=)
n.649A=
n.751A=
n.2565A=
n.3006A=
4g.76112558A>GCA2969600ART3,NUP54c.*39A>G (n.*39A>G)
c.*1379T>C (n.*1379T>C)
n.649A>G
n.751A>G
n.2565A>G
n.3006A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112559_76112560delinsTACA1469471168ART3,NUP54c.*40_*41delinsTA (n.*40_*41delinsTA)
c.*1377_*1378delinsTA (n.*1377_*1378delinsTA)
n.650_651delinsTA
n.752_753delinsTA
n.2566_2567delinsTA
n.3007_3008delinsTA
4g.76112561delCA1469471169ART3,NUP54c.*42del (n.*42del)
c.*1377del (n.*1377del)
n.652del
n.754del
n.2568del
n.3009del
 dbSNP
4g.76112561A=CA1469471170ART3,NUP54c.*42A= (n.*42A=)
c.*1376T= (n.*1376T=)
n.652A=
n.754A=
n.2568A=
n.3009A=
4g.76112561A>TCA1469471171ART3,NUP54c.*42A>T (n.*42A>T)
c.*1376T>A (n.*1376T>A)
n.652A>T
n.754A>T
n.2568A>T
n.3009A>T
 dbSNP
4g.76112562C>ACA2671060590ART3,NUP54c.*43C>A (n.*43C>A)
c.*1375G>T (n.*1375G>T)
n.653C>A
n.755C>A
n.2569C>A
n.3010C>A
 gnomAD v4
4g.76112562C=CA1469471173ART3,NUP54c.*43C= (n.*43C=)
c.*1375G= (n.*1375G=)
n.653C=
n.755C=
n.2569C=
n.3010C=
4g.76112562C>TCA2969601ART3,NUP54c.*43C>T (n.*43C>T)
c.*1375G>A (n.*1375G>A)
n.653C>T
n.755C>T
n.2569C>T
n.3010C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112563T>ACA2969602ART3,NUP54c.*44T>A (n.*44T>A)
c.*1374A>T (n.*1374A>T)
n.654T>A
n.756T>A
n.2570T>A
n.3011T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112563T=CA1469471175ART3,NUP54c.*44T= (n.*44T=)
c.*1374A= (n.*1374A=)
n.654T=
n.756T=
n.2570T=
n.3011T=
4g.76112564A=CA1469471178ART3,NUP54c.*45A= (n.*45A=)
c.*1373T= (n.*1373T=)
n.655A=
n.757A=
n.2571A=
n.3012A=
4g.76112564A>GCA2969603ART3,NUP54c.*45A>G (n.*45A>G)
c.*1373T>C (n.*1373T>C)
n.655A>G
n.757A>G
n.2571A>G
n.3012A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112565T>CCA99838032ART3,NUP54c.*46T>C (n.*46T>C)
c.*1372A>G (n.*1372A>G)
n.656T>C
n.758T>C
n.2572T>C
n.3013T>C
 dbSNP gnomAD v3 gnomAD v4
4g.76112565T=CA1469471180ART3,NUP54c.*46T= (n.*46T=)
c.*1372A= (n.*1372A=)
n.656T=
n.758T=
n.2572T=
n.3013T=
4g.76112567G>ACA2671060595ART3,NUP54c.*48G>A (n.*48G>A)
c.*1370C>T (n.*1370C>T)
n.658G>A
n.760G>A
n.2574G>A
n.3015G>A
 gnomAD v4
4g.76112567G>TCA2671060593ART3,NUP54c.*48G>T (n.*48G>T)
c.*1370C>A (n.*1370C>A)
n.658G>T
n.760G>T
n.2574G>T
n.3015G>T
 gnomAD v4
4g.76112568G>ACA2969604ART3,NUP54c.*49G>A (n.*49G>A)
c.*1369C>T (n.*1369C>T)
n.659G>A
n.761G>A
n.2575G>A
n.3016G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.76112568G>CCA2581425469ART3,NUP54c.*49G>C (n.*49G>C)
c.*1369C>G (n.*1369C>G)
n.659G>C
n.761G>C
n.2575G>C
n.3016G>C
4g.76112568G=CA1469471183ART3,NUP54c.*49G= (n.*49G=)
c.*1369C= (n.*1369C=)
n.659G=
n.761G=
n.2575G=
n.3016G=
4g.76112568G>TCA2581425468ART3,NUP54c.*49G>T (n.*49G>T)
c.*1369C>A (n.*1369C>A)
n.659G>T
n.761G>T
n.2575G>T
n.3016G>T
 gnomAD v4
4g.76112569G>ACA2578118486ART3,NUP54c.*50G>A (n.*50G>A)
c.*1368C>T (n.*1368C>T)
n.660G>A
n.762G>A
n.2576G>A
n.3017G>A
 gnomAD v4
4g.76112569G>TCA2671060597ART3,NUP54c.*50G>T (n.*50G>T)
c.*1368C>A (n.*1368C>A)
n.660G>T
n.762G>T
n.2576G>T
n.3017G>T
 gnomAD v4
4g.76112570A=CA1469471185ART3,NUP54c.*51A= (n.*51A=)
c.*1367T= (n.*1367T=)
n.661A=
n.763A=
n.2577A=
n.3018A=
4g.76112570A>GCA99838047ART3,NUP54c.*51A>G (n.*51A>G)
c.*1367T>C (n.*1367T>C)
n.661A>G
n.763A>G
n.2577A>G
n.3018A>G
 dbSNP
4g.76112571T>ACA798525764ART3,NUP54c.*52T>A (n.*52T>A)
c.*1366A>T (n.*1366A>T)
n.662T>A
n.764T>A
n.2578T>A
n.3019T>A
 dbSNP gnomAD v4
4g.76112571T>CCA2671060598ART3,NUP54c.*52T>C (n.*52T>C)
c.*1366A>G (n.*1366A>G)
n.662T>C
n.764T>C
n.2578T>C
n.3019T>C
 gnomAD v4
4g.76112571T=CA1469471189ART3,NUP54c.*52T= (n.*52T=)
c.*1366A= (n.*1366A=)
n.662T=
n.764T=
n.2578T=
n.3019T=
4g.76112572C>ACA15300209ART3,NUP54c.*53C>A (n.*53C>A)
c.*1365G>T (n.*1365G>T)
n.663C>A
n.765C>A
n.2579C>A
n.3020C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.76112572C=CA1469471192ART3,NUP54c.*53C= (n.*53C=)
c.*1365G= (n.*1365G=)
n.663C=
n.765C=
n.2579C=
n.3020C=
4g.76112572C>GCA2581425470ART3,NUP54c.*53C>G (n.*53C>G)
c.*1365G>C (n.*1365G>C)
n.663C>G
n.765C>G
n.2579C>G
n.3020C>G
 gnomAD v4
4g.76112572C>TCA2581425471ART3,NUP54c.*53C>T (n.*53C>T)
c.*1365G>A (n.*1365G>A)
n.663C>T
n.765C>T
n.2579C>T
n.3020C>T
4g.76112573C>ACA2671060600ART3,NUP54c.*54C>A (n.*54C>A)
c.*1364G>T (n.*1364G>T)
n.664C>A
n.766C>A
n.2580C>A
n.3021C>A
 gnomAD v4
4g.76112574A=CA1469471196ART3,NUP54c.*55A= (n.*55A=)
c.*1363T= (n.*1363T=)
n.665A=
n.767A=
n.2581A=
n.3022A=
4g.76112574A>CCA2671060601ART3,NUP54c.*55A>C (n.*55A>C)
c.*1363T>G (n.*1363T>G)
n.665A>C
n.767A>C
n.2581A>C
n.3022A>C
 gnomAD v4
4g.76112574A>GCA1469471198ART3,NUP54c.*55A>G (n.*55A>G)
c.*1363T>C (n.*1363T>C)
n.665A>G
n.767A>G
n.2581A>G
n.3022A>G
 dbSNP gnomAD v4
4g.76112574A>TCA2671060603ART3,NUP54c.*55A>T (n.*55A>T)
c.*1363T>A (n.*1363T>A)
n.665A>T
n.767A>T
n.2581A>T
n.3022A>T
 gnomAD v4

Number of alleles fetched