Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154558532_154564461delCA2580617548IKBKGc.364_1224del
c.400_1260del
c.-3_858del
c.400_1107del
c.400_1317del
c.400_963del
c.*392_*1252del
c.400-3_1236del
c.400-3_1257del
c.604_1464del
c.400_1239del
c.604-3_1461del
c.604_1321+441del
c.604_1311del
c.400-3_1104del
c.399+2156_891del
n.540+2156_1129del
Xg.154564399T>ACA415219790IKBKGc.1162T>A (p.Cys388Ser)
c.1198T>A (p.Cys400Ser)
c.796T>A (p.Cys266Ser)
c.1045T>A (p.Cys349Ser)
c.1255T>A (p.Cys419Ser)
c.901T>A (p.Cys301Ser)
c.*1190T>A (n.*1190T>A)
c.1174T>A (p.Cys392Ser)
c.1195T>A (p.Cys399Ser)
c.1402T>A (p.Cys468Ser)
c.1177T>A (p.Cys393Ser)
c.1399T>A (p.Cys467Ser)
c.1321+379T>A (n.1321+379T>A)
c.1249T>A (p.Cys417Ser)
c.1042T>A (p.Cys348Ser)
c.829T>A (p.Cys277Ser)
n.1067T>A
Xg.154564399T>CCA415219791IKBKGc.1162T>C (p.Cys388Arg)
c.1198T>C (p.Cys400Arg)
c.796T>C (p.Cys266Arg)
c.1045T>C (p.Cys349Arg)
c.1255T>C (p.Cys419Arg)
c.901T>C (p.Cys301Arg)
c.*1190T>C (n.*1190T>C)
c.1174T>C (p.Cys392Arg)
c.1195T>C (p.Cys399Arg)
c.1402T>C (p.Cys468Arg)
c.1177T>C (p.Cys393Arg)
c.1399T>C (p.Cys467Arg)
c.1321+379T>C (n.1321+379T>C)
c.1249T>C (p.Cys417Arg)
c.1042T>C (p.Cys348Arg)
c.829T>C (p.Cys277Arg)
n.1067T>C
Xg.154564399T>GCA415219794IKBKGc.1162T>G (p.Cys388Gly)
c.1198T>G (p.Cys400Gly)
c.796T>G (p.Cys266Gly)
c.1045T>G (p.Cys349Gly)
c.1255T>G (p.Cys419Gly)
c.901T>G (p.Cys301Gly)
c.*1190T>G (n.*1190T>G)
c.1174T>G (p.Cys392Gly)
c.1195T>G (p.Cys399Gly)
c.1402T>G (p.Cys468Gly)
c.1177T>G (p.Cys393Gly)
c.1399T>G (p.Cys467Gly)
c.1321+379T>G (n.1321+379T>G)
c.1249T>G (p.Cys417Gly)
c.1042T>G (p.Cys348Gly)
c.829T>G (p.Cys277Gly)
n.1067T>G
Xg.154564400G>ACA415219798IKBKGc.1163G>A (p.Cys388Tyr)
c.1199G>A (p.Cys400Tyr)
c.797G>A (p.Cys266Tyr)
c.1046G>A (p.Cys349Tyr)
c.1256G>A (p.Cys419Tyr)
c.902G>A (p.Cys301Tyr)
c.*1191G>A (n.*1191G>A)
c.1175G>A (p.Cys392Tyr)
c.1196G>A (p.Cys399Tyr)
c.1403G>A (p.Cys468Tyr)
c.1178G>A (p.Cys393Tyr)
c.1400G>A (p.Cys467Tyr)
c.1321+380G>A (n.1321+380G>A)
c.1250G>A (p.Cys417Tyr)
c.1043G>A (p.Cys348Tyr)
c.830G>A (p.Cys277Tyr)
n.1068G>A
Xg.154564400G>CCA415219803IKBKGc.1163G>C (p.Cys388Ser)
c.1199G>C (p.Cys400Ser)
c.797G>C (p.Cys266Ser)
c.1046G>C (p.Cys349Ser)
c.1256G>C (p.Cys419Ser)
c.902G>C (p.Cys301Ser)
c.*1191G>C (n.*1191G>C)
c.1175G>C (p.Cys392Ser)
c.1196G>C (p.Cys399Ser)
c.1403G>C (p.Cys468Ser)
c.1178G>C (p.Cys393Ser)
c.1400G>C (p.Cys467Ser)
c.1321+380G>C (n.1321+380G>C)
c.1250G>C (p.Cys417Ser)
c.1043G>C (p.Cys348Ser)
c.830G>C (p.Cys277Ser)
n.1068G>C
Xg.154564400G>TCA415219816IKBKGc.1163G>T (p.Cys388Phe)
c.1199G>T (p.Cys400Phe)
c.797G>T (p.Cys266Phe)
c.1046G>T (p.Cys349Phe)
c.1256G>T (p.Cys419Phe)
c.902G>T (p.Cys301Phe)
c.*1191G>T (n.*1191G>T)
c.1175G>T (p.Cys392Phe)
c.1196G>T (p.Cys399Phe)
c.1403G>T (p.Cys468Phe)
c.1178G>T (p.Cys393Phe)
c.1400G>T (p.Cys467Phe)
c.1321+380G>T (n.1321+380G>T)
c.1250G>T (p.Cys417Phe)
c.1043G>T (p.Cys348Phe)
c.830G>T (p.Cys277Phe)
n.1068G>T
Xg.154564401C>ACA415219839IKBKGc.1164C>A (p.Cys388Ter)
c.1200C>A (p.Cys400Ter)
c.798C>A (p.Cys266Ter)
c.1047C>A (p.Cys349Ter)
c.1257C>A (p.Cys419Ter)
c.903C>A (p.Cys301Ter)
c.*1192C>A (n.*1192C>A)
c.1176C>A (p.Cys392Ter)
c.1197C>A (p.Cys399Ter)
c.1404C>A (p.Cys468Ter)
c.1179C>A (p.Cys393Ter)
c.1401C>A (p.Cys467Ter)
c.1321+381C>A (n.1321+381C>A)
c.1251C>A (p.Cys417Ter)
c.1044C>A (p.Cys348Ter)
c.831C>A (p.Cys277Ter)
n.1069C>A
Xg.154564401C>GCA415219841IKBKGc.1164C>G (p.Cys388Trp)
c.1200C>G (p.Cys400Trp)
c.798C>G (p.Cys266Trp)
c.1047C>G (p.Cys349Trp)
c.1257C>G (p.Cys419Trp)
c.903C>G (p.Cys301Trp)
c.*1192C>G (n.*1192C>G)
c.1176C>G (p.Cys392Trp)
c.1197C>G (p.Cys399Trp)
c.1404C>G (p.Cys468Trp)
c.1179C>G (p.Cys393Trp)
c.1401C>G (p.Cys467Trp)
c.1321+381C>G (n.1321+381C>G)
c.1251C>G (p.Cys417Trp)
c.1044C>G (p.Cys348Trp)
c.831C>G (p.Cys277Trp)
n.1069C>G
Xg.154564401C>TCA519287207IKBKGc.1164C>T (p.Cys388=)
c.1200C>T (p.Cys400=)
c.798C>T (p.Cys266=)
c.1047C>T (p.Cys349=)
c.1257C>T (p.Cys419=)
c.903C>T (p.Cys301=)
c.*1192C>T (n.*1192C>T)
c.1176C>T (p.Cys392=)
c.1197C>T (p.Cys399=)
c.1404C>T (p.Cys468=)
c.1179C>T (p.Cys393=)
c.1401C>T (p.Cys467=)
c.1321+381C>T (n.1321+381C>T)
c.1251C>T (p.Cys417=)
c.1044C>T (p.Cys348=)
c.831C>T (p.Cys277=)
n.1069C>T
Xg.154564402C>ACA415219847IKBKGc.1165C>A (p.Gln389Lys)
c.1201C>A (p.Gln401Lys)
c.799C>A (p.Gln267Lys)
c.1048C>A (p.Gln350Lys)
c.1258C>A (p.Gln420Lys)
c.904C>A (p.Gln302Lys)
c.*1193C>A (n.*1193C>A)
c.1177C>A (p.Gln393Lys)
c.1198C>A (p.Gln400Lys)
c.1405C>A (p.Gln469Lys)
c.1180C>A (p.Gln394Lys)
c.1402C>A (p.Gln468Lys)
c.1321+382C>A (n.1321+382C>A)
c.1252C>A (p.Gln418Lys)
c.1045C>A (p.Gln349Lys)
c.832C>A (p.Gln278Lys)
n.1070C>A
Xg.154564402C>GCA415219849IKBKGc.1165C>G (p.Gln389Glu)
c.1201C>G (p.Gln401Glu)
c.799C>G (p.Gln267Glu)
c.1048C>G (p.Gln350Glu)
c.1258C>G (p.Gln420Glu)
c.904C>G (p.Gln302Glu)
c.*1193C>G (n.*1193C>G)
c.1177C>G (p.Gln393Glu)
c.1198C>G (p.Gln400Glu)
c.1405C>G (p.Gln469Glu)
c.1180C>G (p.Gln394Glu)
c.1402C>G (p.Gln468Glu)
c.1321+382C>G (n.1321+382C>G)
c.1252C>G (p.Gln418Glu)
c.1045C>G (p.Gln349Glu)
c.832C>G (p.Gln278Glu)
n.1070C>G
Xg.154564402C>TCA415219852IKBKGc.1165C>T (p.Gln389Ter)
c.1201C>T (p.Gln401Ter)
c.799C>T (p.Gln267Ter)
c.1048C>T (p.Gln350Ter)
c.1258C>T (p.Gln420Ter)
c.904C>T (p.Gln302Ter)
c.*1193C>T (n.*1193C>T)
c.1177C>T (p.Gln393Ter)
c.1198C>T (p.Gln400Ter)
c.1405C>T (p.Gln469Ter)
c.1180C>T (p.Gln394Ter)
c.1402C>T (p.Gln468Ter)
c.1321+382C>T (n.1321+382C>T)
c.1252C>T (p.Gln418Ter)
c.1045C>T (p.Gln349Ter)
c.832C>T (p.Gln278Ter)
n.1070C>T
Xg.154564403A>CCA415219856IKBKGc.1166A>C (p.Gln389Pro)
c.1202A>C (p.Gln401Pro)
c.800A>C (p.Gln267Pro)
c.1049A>C (p.Gln350Pro)
c.1259A>C (p.Gln420Pro)
c.905A>C (p.Gln302Pro)
c.*1194A>C (n.*1194A>C)
c.1178A>C (p.Gln393Pro)
c.1199A>C (p.Gln400Pro)
c.1406A>C (p.Gln469Pro)
c.1181A>C (p.Gln394Pro)
c.1403A>C (p.Gln468Pro)
c.1321+383A>C (n.1321+383A>C)
c.1253A>C (p.Gln418Pro)
c.1046A>C (p.Gln349Pro)
c.833A>C (p.Gln278Pro)
n.1071A>C
Xg.154564403A>GCA415219859IKBKGc.1166A>G (p.Gln389Arg)
c.1202A>G (p.Gln401Arg)
c.800A>G (p.Gln267Arg)
c.1049A>G (p.Gln350Arg)
c.1259A>G (p.Gln420Arg)
c.905A>G (p.Gln302Arg)
c.*1194A>G (n.*1194A>G)
c.1178A>G (p.Gln393Arg)
c.1199A>G (p.Gln400Arg)
c.1406A>G (p.Gln469Arg)
c.1181A>G (p.Gln394Arg)
c.1403A>G (p.Gln468Arg)
c.1321+383A>G (n.1321+383A>G)
c.1253A>G (p.Gln418Arg)
c.1046A>G (p.Gln349Arg)
c.833A>G (p.Gln278Arg)
n.1071A>G
Xg.154564403A>TCA415219857IKBKGc.1166A>T (p.Gln389Leu)
c.1202A>T (p.Gln401Leu)
c.800A>T (p.Gln267Leu)
c.1049A>T (p.Gln350Leu)
c.1259A>T (p.Gln420Leu)
c.905A>T (p.Gln302Leu)
c.*1194A>T (n.*1194A>T)
c.1178A>T (p.Gln393Leu)
c.1199A>T (p.Gln400Leu)
c.1406A>T (p.Gln469Leu)
c.1181A>T (p.Gln394Leu)
c.1403A>T (p.Gln468Leu)
c.1321+383A>T (n.1321+383A>T)
c.1253A>T (p.Gln418Leu)
c.1046A>T (p.Gln349Leu)
c.833A>T (p.Gln278Leu)
n.1071A>T
Xg.154564404G>ACA519287211IKBKGc.1167G>A (p.Gln389=)
c.1203G>A (p.Gln401=)
c.801G>A (p.Gln267=)
c.1050G>A (p.Gln350=)
c.1260G>A (p.Gln420=)
c.906G>A (p.Gln302=)
c.*1195G>A (n.*1195G>A)
c.1179G>A (p.Gln393=)
c.1200G>A (p.Gln400=)
c.1407G>A (p.Gln469=)
c.1182G>A (p.Gln394=)
c.1404G>A (p.Gln468=)
c.1321+384G>A (n.1321+384G>A)
c.1254G>A (p.Gln418=)
c.1047G>A (p.Gln349=)
c.834G>A (p.Gln278=)
n.1072G>A
 dbSNP gnomAD v2
Xg.154564404G>CCA415219863IKBKGc.1167G>C (p.Gln389His)
c.1203G>C (p.Gln401His)
c.801G>C (p.Gln267His)
c.1050G>C (p.Gln350His)
c.1260G>C (p.Gln420His)
c.906G>C (p.Gln302His)
c.*1195G>C (n.*1195G>C)
c.1179G>C (p.Gln393His)
c.1200G>C (p.Gln400His)
c.1407G>C (p.Gln469His)
c.1182G>C (p.Gln394His)
c.1404G>C (p.Gln468His)
c.1321+384G>C (n.1321+384G>C)
c.1254G>C (p.Gln418His)
c.1047G>C (p.Gln349His)
c.834G>C (p.Gln278His)
n.1072G>C
Xg.154564404G=CA2466734050IKBKGc.1167G= (p.Gln389=)
c.1203G= (p.Gln401=)
c.801G= (p.Gln267=)
c.1050G= (p.Gln350=)
c.1260G= (p.Gln420=)
c.906G= (p.Gln302=)
c.*1195G= (n.*1195G=)
c.1179G= (p.Gln393=)
c.1200G= (p.Gln400=)
c.1407G= (p.Gln469=)
c.1182G= (p.Gln394=)
c.1404G= (p.Gln468=)
c.1321+384G= (n.1321+384G=)
c.1254G= (p.Gln418=)
c.1047G= (p.Gln349=)
c.834G= (p.Gln278=)
n.1072G=
Xg.154564404G>TCA415219865IKBKGc.1167G>T (p.Gln389His)
c.1203G>T (p.Gln401His)
c.801G>T (p.Gln267His)
c.1050G>T (p.Gln350His)
c.1260G>T (p.Gln420His)
c.906G>T (p.Gln302His)
c.*1195G>T (n.*1195G>T)
c.1179G>T (p.Gln393His)
c.1200G>T (p.Gln400His)
c.1407G>T (p.Gln469His)
c.1182G>T (p.Gln394His)
c.1404G>T (p.Gln468His)
c.1321+384G>T (n.1321+384G>T)
c.1254G>T (p.Gln418His)
c.1047G>T (p.Gln349His)
c.834G>T (p.Gln278His)
n.1072G>T
Xg.154564405T>ACA415219867IKBKGc.1168T>A (p.Tyr390Asn)
c.1204T>A (p.Tyr402Asn)
c.802T>A (p.Tyr268Asn)
c.1051T>A (p.Tyr351Asn)
c.1261T>A (p.Tyr421Asn)
c.907T>A (p.Tyr303Asn)
c.*1196T>A (n.*1196T>A)
c.1180T>A (p.Tyr394Asn)
c.1201T>A (p.Tyr401Asn)
c.1408T>A (p.Tyr470Asn)
c.1183T>A (p.Tyr395Asn)
c.1405T>A (p.Tyr469Asn)
c.1321+385T>A (n.1321+385T>A)
c.1255T>A (p.Tyr419Asn)
c.1048T>A (p.Tyr350Asn)
c.835T>A (p.Tyr279Asn)
n.1073T>A
Xg.154564405T>CCA415219869IKBKGc.1168T>C (p.Tyr390His)
c.1204T>C (p.Tyr402His)
c.802T>C (p.Tyr268His)
c.1051T>C (p.Tyr351His)
c.1261T>C (p.Tyr421His)
c.907T>C (p.Tyr303His)
c.*1196T>C (n.*1196T>C)
c.1180T>C (p.Tyr394His)
c.1201T>C (p.Tyr401His)
c.1408T>C (p.Tyr470His)
c.1183T>C (p.Tyr395His)
c.1405T>C (p.Tyr469His)
c.1321+385T>C (n.1321+385T>C)
c.1255T>C (p.Tyr419His)
c.1048T>C (p.Tyr350His)
c.835T>C (p.Tyr279His)
n.1073T>C
Xg.154564405T>GCA415219872IKBKGc.1168T>G (p.Tyr390Asp)
c.1204T>G (p.Tyr402Asp)
c.802T>G (p.Tyr268Asp)
c.1051T>G (p.Tyr351Asp)
c.1261T>G (p.Tyr421Asp)
c.907T>G (p.Tyr303Asp)
c.*1196T>G (n.*1196T>G)
c.1180T>G (p.Tyr394Asp)
c.1201T>G (p.Tyr401Asp)
c.1408T>G (p.Tyr470Asp)
c.1183T>G (p.Tyr395Asp)
c.1405T>G (p.Tyr469Asp)
c.1321+385T>G (n.1321+385T>G)
c.1255T>G (p.Tyr419Asp)
c.1048T>G (p.Tyr350Asp)
c.835T>G (p.Tyr279Asp)
n.1073T>G
Xg.154564406A>CCA415219875IKBKGc.1169A>C (p.Tyr390Ser)
c.1205A>C (p.Tyr402Ser)
c.803A>C (p.Tyr268Ser)
c.1052A>C (p.Tyr351Ser)
c.1262A>C (p.Tyr421Ser)
c.908A>C (p.Tyr303Ser)
c.*1197A>C (n.*1197A>C)
c.1181A>C (p.Tyr394Ser)
c.1202A>C (p.Tyr401Ser)
c.1409A>C (p.Tyr470Ser)
c.1184A>C (p.Tyr395Ser)
c.1406A>C (p.Tyr469Ser)
c.1321+386A>C (n.1321+386A>C)
c.1256A>C (p.Tyr419Ser)
c.1049A>C (p.Tyr350Ser)
c.836A>C (p.Tyr279Ser)
n.1074A>C
Xg.154564406A>GCA415219878IKBKGc.1169A>G (p.Tyr390Cys)
c.1205A>G (p.Tyr402Cys)
c.803A>G (p.Tyr268Cys)
c.1052A>G (p.Tyr351Cys)
c.1262A>G (p.Tyr421Cys)
c.908A>G (p.Tyr303Cys)
c.*1197A>G (n.*1197A>G)
c.1181A>G (p.Tyr394Cys)
c.1202A>G (p.Tyr401Cys)
c.1409A>G (p.Tyr470Cys)
c.1184A>G (p.Tyr395Cys)
c.1406A>G (p.Tyr469Cys)
c.1321+386A>G (n.1321+386A>G)
c.1256A>G (p.Tyr419Cys)
c.1049A>G (p.Tyr350Cys)
c.836A>G (p.Tyr279Cys)
n.1074A>G
Xg.154564406A>TCA415219882IKBKGc.1169A>T (p.Tyr390Phe)
c.1205A>T (p.Tyr402Phe)
c.803A>T (p.Tyr268Phe)
c.1052A>T (p.Tyr351Phe)
c.1262A>T (p.Tyr421Phe)
c.908A>T (p.Tyr303Phe)
c.*1197A>T (n.*1197A>T)
c.1181A>T (p.Tyr394Phe)
c.1202A>T (p.Tyr401Phe)
c.1409A>T (p.Tyr470Phe)
c.1184A>T (p.Tyr395Phe)
c.1406A>T (p.Tyr469Phe)
c.1321+386A>T (n.1321+386A>T)
c.1256A>T (p.Tyr419Phe)
c.1049A>T (p.Tyr350Phe)
c.836A>T (p.Tyr279Phe)
n.1074A>T
Xg.154564407T>ACA415219892IKBKGc.1170T>A (p.Tyr390Ter)
c.1206T>A (p.Tyr402Ter)
c.804T>A (p.Tyr268Ter)
c.1053T>A (p.Tyr351Ter)
c.1263T>A (p.Tyr421Ter)
c.909T>A (p.Tyr303Ter)
c.*1198T>A (n.*1198T>A)
c.1182T>A (p.Tyr394Ter)
c.1203T>A (p.Tyr401Ter)
c.1410T>A (p.Tyr470Ter)
c.1185T>A (p.Tyr395Ter)
c.1407T>A (p.Tyr469Ter)
c.1321+387T>A (n.1321+387T>A)
c.1257T>A (p.Tyr419Ter)
c.1050T>A (p.Tyr350Ter)
c.837T>A (p.Tyr279Ter)
n.1075T>A
Xg.154564407T>CCA519287215IKBKGc.1170T>C (p.Tyr390=)
c.1206T>C (p.Tyr402=)
c.804T>C (p.Tyr268=)
c.1053T>C (p.Tyr351=)
c.1263T>C (p.Tyr421=)
c.909T>C (p.Tyr303=)
c.*1198T>C (n.*1198T>C)
c.1182T>C (p.Tyr394=)
c.1203T>C (p.Tyr401=)
c.1410T>C (p.Tyr470=)
c.1185T>C (p.Tyr395=)
c.1407T>C (p.Tyr469=)
c.1321+387T>C (n.1321+387T>C)
c.1257T>C (p.Tyr419=)
c.1050T>C (p.Tyr350=)
c.837T>C (p.Tyr279=)
n.1075T>C
Xg.154564407T>GCA415219898IKBKGc.1170T>G (p.Tyr390Ter)
c.1206T>G (p.Tyr402Ter)
c.804T>G (p.Tyr268Ter)
c.1053T>G (p.Tyr351Ter)
c.1263T>G (p.Tyr421Ter)
c.909T>G (p.Tyr303Ter)
c.*1198T>G (n.*1198T>G)
c.1182T>G (p.Tyr394Ter)
c.1203T>G (p.Tyr401Ter)
c.1410T>G (p.Tyr470Ter)
c.1185T>G (p.Tyr395Ter)
c.1407T>G (p.Tyr469Ter)
c.1321+387T>G (n.1321+387T>G)
c.1257T>G (p.Tyr419Ter)
c.1050T>G (p.Tyr350Ter)
c.837T>G (p.Tyr279Ter)
n.1075T>G
Xg.154564408C>ACA415219904IKBKGc.1171C>A (p.Gln391Lys)
c.1207C>A (p.Gln403Lys)
c.805C>A (p.Gln269Lys)
c.1054C>A (p.Gln352Lys)
c.1264C>A (p.Gln422Lys)
c.910C>A (p.Gln304Lys)
c.*1199C>A (n.*1199C>A)
c.1183C>A (p.Gln395Lys)
c.1204C>A (p.Gln402Lys)
c.1411C>A (p.Gln471Lys)
c.1186C>A (p.Gln396Lys)
c.1408C>A (p.Gln470Lys)
c.1321+388C>A (n.1321+388C>A)
c.1258C>A (p.Gln420Lys)
c.1051C>A (p.Gln351Lys)
c.838C>A (p.Gln280Lys)
n.1076C>A
Xg.154564408C=CA2466734056IKBKGc.1171C= (p.Gln391=)
c.1207C= (p.Gln403=)
c.805C= (p.Gln269=)
c.1054C= (p.Gln352=)
c.1264C= (p.Gln422=)
c.910C= (p.Gln304=)
c.*1199C= (n.*1199C=)
c.1183C= (p.Gln395=)
c.1204C= (p.Gln402=)
c.1411C= (p.Gln471=)
c.1186C= (p.Gln396=)
c.1408C= (p.Gln470=)
c.1321+388C= (n.1321+388C=)
c.1258C= (p.Gln420=)
c.1051C= (p.Gln351=)
c.838C= (p.Gln280=)
n.1076C=
Xg.154564408C>GCA415219916IKBKGc.1171C>G (p.Gln391Glu)
c.1207C>G (p.Gln403Glu)
c.805C>G (p.Gln269Glu)
c.1054C>G (p.Gln352Glu)
c.1264C>G (p.Gln422Glu)
c.910C>G (p.Gln304Glu)
c.*1199C>G (n.*1199C>G)
c.1183C>G (p.Gln395Glu)
c.1204C>G (p.Gln402Glu)
c.1411C>G (p.Gln471Glu)
c.1186C>G (p.Gln396Glu)
c.1408C>G (p.Gln470Glu)
c.1321+388C>G (n.1321+388C>G)
c.1258C>G (p.Gln420Glu)
c.1051C>G (p.Gln351Glu)
c.838C>G (p.Gln280Glu)
n.1076C>G
Xg.154564408C>TCA121485IKBKGc.1171C>T (p.Gln391Ter)
c.1207C>T (p.Gln403Ter)
c.805C>T (p.Gln269Ter)
c.1054C>T (p.Gln352Ter)
c.1264C>T (p.Gln422Ter)
c.910C>T (p.Gln304Ter)
c.*1199C>T (n.*1199C>T)
c.1183C>T (p.Gln395Ter)
c.1204C>T (p.Gln402Ter)
c.1411C>T (p.Gln471Ter)
c.1186C>T (p.Gln396Ter)
c.1408C>T (p.Gln470Ter)
c.1321+388C>T (n.1321+388C>T)
c.1258C>T (p.Gln420Ter)
c.1051C>T (p.Gln351Ter)
c.838C>T (p.Gln280Ter)
n.1076C>T
 ClinVar dbSNP
Xg.154564409A>CCA415219941IKBKGc.1172A>C (p.Gln391Pro)
c.1208A>C (p.Gln403Pro)
c.806A>C (p.Gln269Pro)
c.1055A>C (p.Gln352Pro)
c.1265A>C (p.Gln422Pro)
c.911A>C (p.Gln304Pro)
c.*1200A>C (n.*1200A>C)
c.1184A>C (p.Gln395Pro)
c.1205A>C (p.Gln402Pro)
c.1412A>C (p.Gln471Pro)
c.1187A>C (p.Gln396Pro)
c.1409A>C (p.Gln470Pro)
c.1321+389A>C (n.1321+389A>C)
c.1259A>C (p.Gln420Pro)
c.1052A>C (p.Gln351Pro)
c.839A>C (p.Gln280Pro)
n.1077A>C
Xg.154564409A>GCA415219921IKBKGc.1172A>G (p.Gln391Arg)
c.1208A>G (p.Gln403Arg)
c.806A>G (p.Gln269Arg)
c.1055A>G (p.Gln352Arg)
c.1265A>G (p.Gln422Arg)
c.911A>G (p.Gln304Arg)
c.*1200A>G (n.*1200A>G)
c.1184A>G (p.Gln395Arg)
c.1205A>G (p.Gln402Arg)
c.1412A>G (p.Gln471Arg)
c.1187A>G (p.Gln396Arg)
c.1409A>G (p.Gln470Arg)
c.1321+389A>G (n.1321+389A>G)
c.1259A>G (p.Gln420Arg)
c.1052A>G (p.Gln351Arg)
c.839A>G (p.Gln280Arg)
n.1077A>G
Xg.154564409A>TCA415219936IKBKGc.1172A>T (p.Gln391Leu)
c.1208A>T (p.Gln403Leu)
c.806A>T (p.Gln269Leu)
c.1055A>T (p.Gln352Leu)
c.1265A>T (p.Gln422Leu)
c.911A>T (p.Gln304Leu)
c.*1200A>T (n.*1200A>T)
c.1184A>T (p.Gln395Leu)
c.1205A>T (p.Gln402Leu)
c.1412A>T (p.Gln471Leu)
c.1187A>T (p.Gln396Leu)
c.1409A>T (p.Gln470Leu)
c.1321+389A>T (n.1321+389A>T)
c.1259A>T (p.Gln420Leu)
c.1052A>T (p.Gln351Leu)
c.839A>T (p.Gln280Leu)
n.1077A>T
Xg.154564410G>ACA519287218IKBKGc.1173G>A (p.Gln391=)
c.1209G>A (p.Gln403=)
c.807G>A (p.Gln269=)
c.1056G>A (p.Gln352=)
c.1266G>A (p.Gln422=)
c.912G>A (p.Gln304=)
c.*1201G>A (n.*1201G>A)
c.1185G>A (p.Gln395=)
c.1206G>A (p.Gln402=)
c.1413G>A (p.Gln471=)
c.1188G>A (p.Gln396=)
c.1410G>A (p.Gln470=)
c.1321+390G>A (n.1321+390G>A)
c.1260G>A (p.Gln420=)
c.1053G>A (p.Gln351=)
c.840G>A (p.Gln280=)
n.1078G>A
Xg.154564410G>CCA415219953IKBKGc.1173G>C (p.Gln391His)
c.1209G>C (p.Gln403His)
c.807G>C (p.Gln269His)
c.1056G>C (p.Gln352His)
c.1266G>C (p.Gln422His)
c.912G>C (p.Gln304His)
c.*1201G>C (n.*1201G>C)
c.1185G>C (p.Gln395His)
c.1206G>C (p.Gln402His)
c.1413G>C (p.Gln471His)
c.1188G>C (p.Gln396His)
c.1410G>C (p.Gln470His)
c.1321+390G>C (n.1321+390G>C)
c.1260G>C (p.Gln420His)
c.1053G>C (p.Gln351His)
c.840G>C (p.Gln280His)
n.1078G>C
Xg.154564410G>TCA415219960IKBKGc.1173G>T (p.Gln391His)
c.1209G>T (p.Gln403His)
c.807G>T (p.Gln269His)
c.1056G>T (p.Gln352His)
c.1266G>T (p.Gln422His)
c.912G>T (p.Gln304His)
c.*1201G>T (n.*1201G>T)
c.1185G>T (p.Gln395His)
c.1206G>T (p.Gln402His)
c.1413G>T (p.Gln471His)
c.1188G>T (p.Gln396His)
c.1410G>T (p.Gln470His)
c.1321+390G>T (n.1321+390G>T)
c.1260G>T (p.Gln420His)
c.1053G>T (p.Gln351His)
c.840G>T (p.Gln280His)
n.1078G>T
Xg.154564411G>ACA415219972IKBKGc.1174G>A (p.Ala392Thr)
c.1210G>A (p.Ala404Thr)
c.808G>A (p.Ala270Thr)
c.1057G>A (p.Ala353Thr)
c.1267G>A (p.Ala423Thr)
c.913G>A (p.Ala305Thr)
c.*1202G>A (n.*1202G>A)
c.1186G>A (p.Ala396Thr)
c.1207G>A (p.Ala403Thr)
c.1414G>A (p.Ala472Thr)
c.1189G>A (p.Ala397Thr)
c.1411G>A (p.Ala471Thr)
c.1321+391G>A (n.1321+391G>A)
c.1261G>A (p.Ala421Thr)
c.1054G>A (p.Ala352Thr)
c.841G>A (p.Ala281Thr)
n.1079G>A
Xg.154564411G>CCA415219976IKBKGc.1174G>C (p.Ala392Pro)
c.1210G>C (p.Ala404Pro)
c.808G>C (p.Ala270Pro)
c.1057G>C (p.Ala353Pro)
c.1267G>C (p.Ala423Pro)
c.913G>C (p.Ala305Pro)
c.*1202G>C (n.*1202G>C)
c.1186G>C (p.Ala396Pro)
c.1207G>C (p.Ala403Pro)
c.1414G>C (p.Ala472Pro)
c.1189G>C (p.Ala397Pro)
c.1411G>C (p.Ala471Pro)
c.1321+391G>C (n.1321+391G>C)
c.1261G>C (p.Ala421Pro)
c.1054G>C (p.Ala352Pro)
c.841G>C (p.Ala281Pro)
n.1079G>C
Xg.154564411G>TCA415219978IKBKGc.1174G>T (p.Ala392Ser)
c.1210G>T (p.Ala404Ser)
c.808G>T (p.Ala270Ser)
c.1057G>T (p.Ala353Ser)
c.1267G>T (p.Ala423Ser)
c.913G>T (p.Ala305Ser)
c.*1202G>T (n.*1202G>T)
c.1186G>T (p.Ala396Ser)
c.1207G>T (p.Ala403Ser)
c.1414G>T (p.Ala472Ser)
c.1189G>T (p.Ala397Ser)
c.1411G>T (p.Ala471Ser)
c.1321+391G>T (n.1321+391G>T)
c.1261G>T (p.Ala421Ser)
c.1054G>T (p.Ala352Ser)
c.841G>T (p.Ala281Ser)
n.1079G>T
Xg.154564412C>ACA415219981IKBKGc.1175C>A (p.Ala392Asp)
c.1211C>A (p.Ala404Asp)
c.809C>A (p.Ala270Asp)
c.1058C>A (p.Ala353Asp)
c.1268C>A (p.Ala423Asp)
c.914C>A (p.Ala305Asp)
c.*1203C>A (n.*1203C>A)
c.1187C>A (p.Ala396Asp)
c.1208C>A (p.Ala403Asp)
c.1415C>A (p.Ala472Asp)
c.1190C>A (p.Ala397Asp)
c.1412C>A (p.Ala471Asp)
c.1321+392C>A (n.1321+392C>A)
c.1262C>A (p.Ala421Asp)
c.1055C>A (p.Ala352Asp)
c.842C>A (p.Ala281Asp)
n.1080C>A
Xg.154564412C>GCA415219984IKBKGc.1175C>G (p.Ala392Gly)
c.1211C>G (p.Ala404Gly)
c.809C>G (p.Ala270Gly)
c.1058C>G (p.Ala353Gly)
c.1268C>G (p.Ala423Gly)
c.914C>G (p.Ala305Gly)
c.*1203C>G (n.*1203C>G)
c.1187C>G (p.Ala396Gly)
c.1208C>G (p.Ala403Gly)
c.1415C>G (p.Ala472Gly)
c.1190C>G (p.Ala397Gly)
c.1412C>G (p.Ala471Gly)
c.1321+392C>G (n.1321+392C>G)
c.1262C>G (p.Ala421Gly)
c.1055C>G (p.Ala352Gly)
c.842C>G (p.Ala281Gly)
n.1080C>G
Xg.154564412C>TCA415219987IKBKGc.1175C>T (p.Ala392Val)
c.1211C>T (p.Ala404Val)
c.809C>T (p.Ala270Val)
c.1058C>T (p.Ala353Val)
c.1268C>T (p.Ala423Val)
c.914C>T (p.Ala305Val)
c.*1203C>T (n.*1203C>T)
c.1187C>T (p.Ala396Val)
c.1208C>T (p.Ala403Val)
c.1415C>T (p.Ala472Val)
c.1190C>T (p.Ala397Val)
c.1412C>T (p.Ala471Val)
c.1321+392C>T (n.1321+392C>T)
c.1262C>T (p.Ala421Val)
c.1055C>T (p.Ala352Val)
c.842C>T (p.Ala281Val)
n.1080C>T
Xg.154564415dupCA2695237094IKBKGc.1178dup (p.Asp394Ter)
c.1214dup (p.Asp406Ter)
c.812dup (p.Asp272Ter)
c.1061dup (p.Asp355Ter)
c.1271dup (p.Asp425Ter)
c.917dup (p.Asp307Ter)
c.*1206dup (n.*1206dup)
c.1190dup (p.Asp398Ter)
c.1211dup (p.Asp405Ter)
c.1418dup (p.Asp474Ter)
c.1193dup (p.Asp399Ter)
c.1415dup (p.Asp473Ter)
c.1321+395dup (n.1321+395dup)
c.1265dup (p.Asp423Ter)
c.1058dup (p.Asp354Ter)
c.845dup (p.Asp283Ter)
n.1083dup
Xg.154564413C>ACA519287221IKBKGc.1176C>A (p.Ala392=)
c.1212C>A (p.Ala404=)
c.810C>A (p.Ala270=)
c.1059C>A (p.Ala353=)
c.1269C>A (p.Ala423=)
c.915C>A (p.Ala305=)
c.*1204C>A (n.*1204C>A)
c.1188C>A (p.Ala396=)
c.1209C>A (p.Ala403=)
c.1416C>A (p.Ala472=)
c.1191C>A (p.Ala397=)
c.1413C>A (p.Ala471=)
c.1321+393C>A (n.1321+393C>A)
c.1263C>A (p.Ala421=)
c.1056C>A (p.Ala352=)
c.843C>A (p.Ala281=)
n.1081C>A
Xg.154564413C>GCA519287223IKBKGc.1176C>G (p.Ala392=)
c.1212C>G (p.Ala404=)
c.810C>G (p.Ala270=)
c.1059C>G (p.Ala353=)
c.1269C>G (p.Ala423=)
c.915C>G (p.Ala305=)
c.*1204C>G (n.*1204C>G)
c.1188C>G (p.Ala396=)
c.1209C>G (p.Ala403=)
c.1416C>G (p.Ala472=)
c.1191C>G (p.Ala397=)
c.1413C>G (p.Ala471=)
c.1321+393C>G (n.1321+393C>G)
c.1263C>G (p.Ala421=)
c.1056C>G (p.Ala352=)
c.843C>G (p.Ala281=)
n.1081C>G
Xg.154564413C>TCA519287224IKBKGc.1176C>T (p.Ala392=)
c.1212C>T (p.Ala404=)
c.810C>T (p.Ala270=)
c.1059C>T (p.Ala353=)
c.1269C>T (p.Ala423=)
c.915C>T (p.Ala305=)
c.*1204C>T (n.*1204C>T)
c.1188C>T (p.Ala396=)
c.1209C>T (p.Ala403=)
c.1416C>T (p.Ala472=)
c.1191C>T (p.Ala397=)
c.1413C>T (p.Ala471=)
c.1321+393C>T (n.1321+393C>T)
c.1263C>T (p.Ala421=)
c.1056C>T (p.Ala352=)
c.843C>T (p.Ala281=)
n.1081C>T
Xg.154564414C>ACA415219995IKBKGc.1177C>A (p.Pro393Thr)
c.1213C>A (p.Pro405Thr)
c.811C>A (p.Pro271Thr)
c.1060C>A (p.Pro354Thr)
c.1270C>A (p.Pro424Thr)
c.916C>A (p.Pro306Thr)
c.*1205C>A (n.*1205C>A)
c.1189C>A (p.Pro397Thr)
c.1210C>A (p.Pro404Thr)
c.1417C>A (p.Pro473Thr)
c.1192C>A (p.Pro398Thr)
c.1414C>A (p.Pro472Thr)
c.1321+394C>A (n.1321+394C>A)
c.1264C>A (p.Pro422Thr)
c.1057C>A (p.Pro353Thr)
c.844C>A (p.Pro282Thr)
n.1082C>A
Xg.154564414C=CA2466734058IKBKGc.1177C= (p.Pro393=)
c.1213C= (p.Pro405=)
c.811C= (p.Pro271=)
c.1060C= (p.Pro354=)
c.1270C= (p.Pro424=)
c.916C= (p.Pro306=)
c.*1205C= (n.*1205C=)
c.1189C= (p.Pro397=)
c.1210C= (p.Pro404=)
c.1417C= (p.Pro473=)
c.1192C= (p.Pro398=)
c.1414C= (p.Pro472=)
c.1321+394C= (n.1321+394C=)
c.1264C= (p.Pro422=)
c.1057C= (p.Pro353=)
c.844C= (p.Pro282=)
n.1082C=
Xg.154564414C>GCA415219996IKBKGc.1177C>G (p.Pro393Ala)
c.1213C>G (p.Pro405Ala)
c.811C>G (p.Pro271Ala)
c.1060C>G (p.Pro354Ala)
c.1270C>G (p.Pro424Ala)
c.916C>G (p.Pro306Ala)
c.*1205C>G (n.*1205C>G)
c.1189C>G (p.Pro397Ala)
c.1210C>G (p.Pro404Ala)
c.1417C>G (p.Pro473Ala)
c.1192C>G (p.Pro398Ala)
c.1414C>G (p.Pro472Ala)
c.1321+394C>G (n.1321+394C>G)
c.1264C>G (p.Pro422Ala)
c.1057C>G (p.Pro353Ala)
c.844C>G (p.Pro282Ala)
n.1082C>G
Xg.154564414C>TCA415219998IKBKGc.1177C>T (p.Pro393Ser)
c.1213C>T (p.Pro405Ser)
c.811C>T (p.Pro271Ser)
c.1060C>T (p.Pro354Ser)
c.1270C>T (p.Pro424Ser)
c.916C>T (p.Pro306Ser)
c.*1205C>T (n.*1205C>T)
c.1189C>T (p.Pro397Ser)
c.1210C>T (p.Pro404Ser)
c.1417C>T (p.Pro473Ser)
c.1192C>T (p.Pro398Ser)
c.1414C>T (p.Pro472Ser)
c.1321+394C>T (n.1321+394C>T)
c.1264C>T (p.Pro422Ser)
c.1057C>T (p.Pro353Ser)
c.844C>T (p.Pro282Ser)
n.1082C>T
 dbSNP gnomAD v2
Xg.154564415C>ACA415220002IKBKGc.1178C>A (p.Pro393His)
c.1214C>A (p.Pro405His)
c.812C>A (p.Pro271His)
c.1061C>A (p.Pro354His)
c.1271C>A (p.Pro424His)
c.917C>A (p.Pro306His)
c.*1206C>A (n.*1206C>A)
c.1190C>A (p.Pro397His)
c.1211C>A (p.Pro404His)
c.1418C>A (p.Pro473His)
c.1193C>A (p.Pro398His)
c.1415C>A (p.Pro472His)
c.1321+395C>A (n.1321+395C>A)
c.1265C>A (p.Pro422His)
c.1058C>A (p.Pro353His)
c.845C>A (p.Pro282His)
n.1083C>A
Xg.154564415C>GCA415220009IKBKGc.1178C>G (p.Pro393Arg)
c.1214C>G (p.Pro405Arg)
c.812C>G (p.Pro271Arg)
c.1061C>G (p.Pro354Arg)
c.1271C>G (p.Pro424Arg)
c.917C>G (p.Pro306Arg)
c.*1206C>G (n.*1206C>G)
c.1190C>G (p.Pro397Arg)
c.1211C>G (p.Pro404Arg)
c.1418C>G (p.Pro473Arg)
c.1193C>G (p.Pro398Arg)
c.1415C>G (p.Pro472Arg)
c.1321+395C>G (n.1321+395C>G)
c.1265C>G (p.Pro422Arg)
c.1058C>G (p.Pro353Arg)
c.845C>G (p.Pro282Arg)
n.1083C>G
Xg.154564415C>TCA415220006IKBKGc.1178C>T (p.Pro393Leu)
c.1214C>T (p.Pro405Leu)
c.812C>T (p.Pro271Leu)
c.1061C>T (p.Pro354Leu)
c.1271C>T (p.Pro424Leu)
c.917C>T (p.Pro306Leu)
c.*1206C>T (n.*1206C>T)
c.1190C>T (p.Pro397Leu)
c.1211C>T (p.Pro404Leu)
c.1418C>T (p.Pro473Leu)
c.1193C>T (p.Pro398Leu)
c.1415C>T (p.Pro472Leu)
c.1321+395C>T (n.1321+395C>T)
c.1265C>T (p.Pro422Leu)
c.1058C>T (p.Pro353Leu)
c.845C>T (p.Pro282Leu)
n.1083C>T
Xg.154564416T>ACA519287228IKBKGc.1179T>A (p.Pro393=)
c.1215T>A (p.Pro405=)
c.813T>A (p.Pro271=)
c.1062T>A (p.Pro354=)
c.1272T>A (p.Pro424=)
c.918T>A (p.Pro306=)
c.*1207T>A (n.*1207T>A)
c.1191T>A (p.Pro397=)
c.1212T>A (p.Pro404=)
c.1419T>A (p.Pro473=)
c.1194T>A (p.Pro398=)
c.1416T>A (p.Pro472=)
c.1321+396T>A (n.1321+396T>A)
c.1266T>A (p.Pro422=)
c.1059T>A (p.Pro353=)
c.846T>A (p.Pro282=)
n.1084T>A
Xg.154564416T>CCA519287230IKBKGc.1179T>C (p.Pro393=)
c.1215T>C (p.Pro405=)
c.813T>C (p.Pro271=)
c.1062T>C (p.Pro354=)
c.1272T>C (p.Pro424=)
c.918T>C (p.Pro306=)
c.*1207T>C (n.*1207T>C)
c.1191T>C (p.Pro397=)
c.1212T>C (p.Pro404=)
c.1419T>C (p.Pro473=)
c.1194T>C (p.Pro398=)
c.1416T>C (p.Pro472=)
c.1321+396T>C (n.1321+396T>C)
c.1266T>C (p.Pro422=)
c.1059T>C (p.Pro353=)
c.846T>C (p.Pro282=)
n.1084T>C
Xg.154564416T>GCA519287229IKBKGc.1179T>G (p.Pro393=)
c.1215T>G (p.Pro405=)
c.813T>G (p.Pro271=)
c.1062T>G (p.Pro354=)
c.1272T>G (p.Pro424=)
c.918T>G (p.Pro306=)
c.*1207T>G (n.*1207T>G)
c.1191T>G (p.Pro397=)
c.1212T>G (p.Pro404=)
c.1419T>G (p.Pro473=)
c.1194T>G (p.Pro398=)
c.1416T>G (p.Pro472=)
c.1321+396T>G (n.1321+396T>G)
c.1266T>G (p.Pro422=)
c.1059T>G (p.Pro353=)
c.846T>G (p.Pro282=)
n.1084T>G
Xg.154564417G>ACA415220026IKBKGc.1180G>A (p.Asp394Asn)
c.1216G>A (p.Asp406Asn)
c.814G>A (p.Asp272Asn)
c.1063G>A (p.Asp355Asn)
c.1273G>A (p.Asp425Asn)
c.919G>A (p.Asp307Asn)
c.*1208G>A (n.*1208G>A)
c.1192G>A (p.Asp398Asn)
c.1213G>A (p.Asp405Asn)
c.1420G>A (p.Asp474Asn)
c.1195G>A (p.Asp399Asn)
c.1417G>A (p.Asp473Asn)
c.1321+397G>A (n.1321+397G>A)
c.1267G>A (p.Asp423Asn)
c.1060G>A (p.Asp354Asn)
c.847G>A (p.Asp283Asn)
n.1085G>A
Xg.154564417G>CCA415220047IKBKGc.1180G>C (p.Asp394His)
c.1216G>C (p.Asp406His)
c.814G>C (p.Asp272His)
c.1063G>C (p.Asp355His)
c.1273G>C (p.Asp425His)
c.919G>C (p.Asp307His)
c.*1208G>C (n.*1208G>C)
c.1192G>C (p.Asp398His)
c.1213G>C (p.Asp405His)
c.1420G>C (p.Asp474His)
c.1195G>C (p.Asp399His)
c.1417G>C (p.Asp473His)
c.1321+397G>C (n.1321+397G>C)
c.1267G>C (p.Asp423His)
c.1060G>C (p.Asp354His)
c.847G>C (p.Asp283His)
n.1085G>C
Xg.154564417G>TCA415220056IKBKGc.1180G>T (p.Asp394Tyr)
c.1216G>T (p.Asp406Tyr)
c.814G>T (p.Asp272Tyr)
c.1063G>T (p.Asp355Tyr)
c.1273G>T (p.Asp425Tyr)
c.919G>T (p.Asp307Tyr)
c.*1208G>T (n.*1208G>T)
c.1192G>T (p.Asp398Tyr)
c.1213G>T (p.Asp405Tyr)
c.1420G>T (p.Asp474Tyr)
c.1195G>T (p.Asp399Tyr)
c.1417G>T (p.Asp473Tyr)
c.1321+397G>T (n.1321+397G>T)
c.1267G>T (p.Asp423Tyr)
c.1060G>T (p.Asp354Tyr)
c.847G>T (p.Asp283Tyr)
n.1085G>T
Xg.154564418A=CA2466734060IKBKGc.1181A= (p.Asp394=)
c.1217A= (p.Asp406=)
c.815A= (p.Asp272=)
c.1064A= (p.Asp355=)
c.1274A= (p.Asp425=)
c.920A= (p.Asp307=)
c.*1209A= (n.*1209A=)
c.1193A= (p.Asp398=)
c.1214A= (p.Asp405=)
c.1421A= (p.Asp474=)
c.1196A= (p.Asp399=)
c.1418A= (p.Asp473=)
c.1321+398A= (n.1321+398A=)
c.1268A= (p.Asp423=)
c.1061A= (p.Asp354=)
c.848A= (p.Asp283=)
n.1086A=
Xg.154564418A>CCA415220063IKBKGc.1181A>C (p.Asp394Ala)
c.1217A>C (p.Asp406Ala)
c.815A>C (p.Asp272Ala)
c.1064A>C (p.Asp355Ala)
c.1274A>C (p.Asp425Ala)
c.920A>C (p.Asp307Ala)
c.*1209A>C (n.*1209A>C)
c.1193A>C (p.Asp398Ala)
c.1214A>C (p.Asp405Ala)
c.1421A>C (p.Asp474Ala)
c.1196A>C (p.Asp399Ala)
c.1418A>C (p.Asp473Ala)
c.1321+398A>C (n.1321+398A>C)
c.1268A>C (p.Asp423Ala)
c.1061A>C (p.Asp354Ala)
c.848A>C (p.Asp283Ala)
n.1086A>C
Xg.154564418A>GCA415220068IKBKGc.1181A>G (p.Asp394Gly)
c.1217A>G (p.Asp406Gly)
c.815A>G (p.Asp272Gly)
c.1064A>G (p.Asp355Gly)
c.1274A>G (p.Asp425Gly)
c.920A>G (p.Asp307Gly)
c.*1209A>G (n.*1209A>G)
c.1193A>G (p.Asp398Gly)
c.1214A>G (p.Asp405Gly)
c.1421A>G (p.Asp474Gly)
c.1196A>G (p.Asp399Gly)
c.1418A>G (p.Asp473Gly)
c.1321+398A>G (n.1321+398A>G)
c.1268A>G (p.Asp423Gly)
c.1061A>G (p.Asp354Gly)
c.848A>G (p.Asp283Gly)
n.1086A>G
Xg.154564418A>TCA121479IKBKGc.1181A>T (p.Asp394Val)
c.1217A>T (p.Asp406Val)
c.815A>T (p.Asp272Val)
c.1064A>T (p.Asp355Val)
c.1274A>T (p.Asp425Val)
c.920A>T (p.Asp307Val)
c.*1209A>T (n.*1209A>T)
c.1193A>T (p.Asp398Val)
c.1214A>T (p.Asp405Val)
c.1421A>T (p.Asp474Val)
c.1196A>T (p.Asp399Val)
c.1418A>T (p.Asp473Val)
c.1321+398A>T (n.1321+398A>T)
c.1268A>T (p.Asp423Val)
c.1061A>T (p.Asp354Val)
c.848A>T (p.Asp283Val)
n.1086A>T
 ClinVar dbSNP
Xg.154564418dupCA2573320469IKBKGc.1181dup (p.Asp394GlufsTer14)
c.1217dup (p.Asp406GlufsTer14)
c.815dup (p.Asp272GlufsTer14)
c.1064dup (p.Asp355GlufsTer14)
c.1274dup (p.Asp425GlufsTer14)
c.920dup (p.Asp307GlufsTer14)
c.*1209dup (n.*1209dup)
c.1193dup (p.Asp398GlufsTer14)
c.1214dup (p.Asp405GlufsTer14)
c.1421dup (p.Asp474GlufsTer14)
c.1196dup (p.Asp399GlufsTer14)
c.1418dup (p.Asp473GlufsTer14)
c.1321+398dup (n.1321+398dup)
c.1268dup (p.Asp423GlufsTer14)
c.1061dup (p.Asp354GlufsTer14)
c.848dup (p.Asp283GlufsTer14)
n.1086dup
Xg.154564419T>ACA415220070IKBKGc.1182T>A (p.Asp394Glu)
c.1218T>A (p.Asp406Glu)
c.816T>A (p.Asp272Glu)
c.1065T>A (p.Asp355Glu)
c.1275T>A (p.Asp425Glu)
c.921T>A (p.Asp307Glu)
c.*1210T>A (n.*1210T>A)
c.1194T>A (p.Asp398Glu)
c.1215T>A (p.Asp405Glu)
c.1422T>A (p.Asp474Glu)
c.1197T>A (p.Asp399Glu)
c.1419T>A (p.Asp473Glu)
c.1321+399T>A (n.1321+399T>A)
c.1269T>A (p.Asp423Glu)
c.1062T>A (p.Asp354Glu)
c.849T>A (p.Asp283Glu)
n.1087T>A
Xg.154564419T>CCA519287234IKBKGc.1182T>C (p.Asp394=)
c.1218T>C (p.Asp406=)
c.816T>C (p.Asp272=)
c.1065T>C (p.Asp355=)
c.1275T>C (p.Asp425=)
c.921T>C (p.Asp307=)
c.*1210T>C (n.*1210T>C)
c.1194T>C (p.Asp398=)
c.1215T>C (p.Asp405=)
c.1422T>C (p.Asp474=)
c.1197T>C (p.Asp399=)
c.1419T>C (p.Asp473=)
c.1321+399T>C (n.1321+399T>C)
c.1269T>C (p.Asp423=)
c.1062T>C (p.Asp354=)
c.849T>C (p.Asp283=)
n.1087T>C
Xg.154564419T>GCA415220073IKBKGc.1182T>G (p.Asp394Glu)
c.1218T>G (p.Asp406Glu)
c.816T>G (p.Asp272Glu)
c.1065T>G (p.Asp355Glu)
c.1275T>G (p.Asp425Glu)
c.921T>G (p.Asp307Glu)
c.*1210T>G (n.*1210T>G)
c.1194T>G (p.Asp398Glu)
c.1215T>G (p.Asp405Glu)
c.1422T>G (p.Asp474Glu)
c.1197T>G (p.Asp399Glu)
c.1419T>G (p.Asp473Glu)
c.1321+399T>G (n.1321+399T>G)
c.1269T>G (p.Asp423Glu)
c.1062T>G (p.Asp354Glu)
c.849T>G (p.Asp283Glu)
n.1087T>G
Xg.154564420A=CA2466734063IKBKGc.1183A= (p.Met395=)
c.1219A= (p.Met407=)
c.817A= (p.Met273=)
c.1066A= (p.Met356=)
c.1276A= (p.Met426=)
c.922A= (p.Met308=)
c.*1211A= (n.*1211A=)
c.1195A= (p.Met399=)
c.1216A= (p.Met406=)
c.1423A= (p.Met475=)
c.1198A= (p.Met400=)
c.1420A= (p.Met474=)
c.1321+400A= (n.1321+400A=)
c.1270A= (p.Met424=)
c.1063A= (p.Met355=)
c.850A= (p.Met284=)
n.1088A=
Xg.154564420A>CCA415220081IKBKGc.1183A>C (p.Met395Leu)
c.1219A>C (p.Met407Leu)
c.817A>C (p.Met273Leu)
c.1066A>C (p.Met356Leu)
c.1276A>C (p.Met426Leu)
c.922A>C (p.Met308Leu)
c.*1211A>C (n.*1211A>C)
c.1195A>C (p.Met399Leu)
c.1216A>C (p.Met406Leu)
c.1423A>C (p.Met475Leu)
c.1198A>C (p.Met400Leu)
c.1420A>C (p.Met474Leu)
c.1321+400A>C (n.1321+400A>C)
c.1270A>C (p.Met424Leu)
c.1063A>C (p.Met355Leu)
c.850A>C (p.Met284Leu)
n.1088A>C
Xg.154564420A>GCA255887IKBKGc.1183A>G (p.Met395Val)
c.1219A>G (p.Met407Val)
c.817A>G (p.Met273Val)
c.1066A>G (p.Met356Val)
c.1276A>G (p.Met426Val)
c.922A>G (p.Met308Val)
c.*1211A>G (n.*1211A>G)
c.1195A>G (p.Met399Val)
c.1216A>G (p.Met406Val)
c.1423A>G (p.Met475Val)
c.1198A>G (p.Met400Val)
c.1420A>G (p.Met474Val)
c.1321+400A>G (n.1321+400A>G)
c.1270A>G (p.Met424Val)
c.1063A>G (p.Met355Val)
c.850A>G (p.Met284Val)
n.1088A>G
 ClinVar dbSNP ExAC gnomAD v2
Xg.154564420A>TCA415220090IKBKGc.1183A>T (p.Met395Leu)
c.1219A>T (p.Met407Leu)
c.817A>T (p.Met273Leu)
c.1066A>T (p.Met356Leu)
c.1276A>T (p.Met426Leu)
c.922A>T (p.Met308Leu)
c.*1211A>T (n.*1211A>T)
c.1195A>T (p.Met399Leu)
c.1216A>T (p.Met406Leu)
c.1423A>T (p.Met475Leu)
c.1198A>T (p.Met400Leu)
c.1420A>T (p.Met474Leu)
c.1321+400A>T (n.1321+400A>T)
c.1270A>T (p.Met424Leu)
c.1063A>T (p.Met355Leu)
c.850A>T (p.Met284Leu)
n.1088A>T
Xg.154564420dupCA2573320468IKBKGc.1183dup (p.Met395AsnfsTer13)
c.1219dup (p.Met407AsnfsTer13)
c.817dup (p.Met273AsnfsTer13)
c.1066dup (p.Met356AsnfsTer13)
c.1276dup (p.Met426AsnfsTer13)
c.922dup (p.Met308AsnfsTer13)
c.*1211dup (n.*1211dup)
c.1195dup (p.Met399AsnfsTer13)
c.1216dup (p.Met406AsnfsTer13)
c.1423dup (p.Met475AsnfsTer13)
c.1198dup (p.Met400AsnfsTer13)
c.1420dup (p.Met474AsnfsTer13)
c.1321+400dup (n.1321+400dup)
c.1270dup (p.Met424AsnfsTer13)
c.1063dup (p.Met355AsnfsTer13)
c.850dup (p.Met284AsnfsTer13)
n.1088dup
Xg.154564421T>ACA415220098IKBKGc.1184T>A (p.Met395Lys)
c.1220T>A (p.Met407Lys)
c.818T>A (p.Met273Lys)
c.1067T>A (p.Met356Lys)
c.1277T>A (p.Met426Lys)
c.923T>A (p.Met308Lys)
c.*1212T>A (n.*1212T>A)
c.1196T>A (p.Met399Lys)
c.1217T>A (p.Met406Lys)
c.1424T>A (p.Met475Lys)
c.1199T>A (p.Met400Lys)
c.1421T>A (p.Met474Lys)
c.1321+401T>A (n.1321+401T>A)
c.1271T>A (p.Met424Lys)
c.1064T>A (p.Met355Lys)
c.851T>A (p.Met284Lys)
n.1089T>A
Xg.154564421T>CCA415220093IKBKGc.1184T>C (p.Met395Thr)
c.1220T>C (p.Met407Thr)
c.818T>C (p.Met273Thr)
c.1067T>C (p.Met356Thr)
c.1277T>C (p.Met426Thr)
c.923T>C (p.Met308Thr)
c.*1212T>C (n.*1212T>C)
c.1196T>C (p.Met399Thr)
c.1217T>C (p.Met406Thr)
c.1424T>C (p.Met475Thr)
c.1199T>C (p.Met400Thr)
c.1421T>C (p.Met474Thr)
c.1321+401T>C (n.1321+401T>C)
c.1271T>C (p.Met424Thr)
c.1064T>C (p.Met355Thr)
c.851T>C (p.Met284Thr)
n.1089T>C
Xg.154564421T>GCA415220095IKBKGc.1184T>G (p.Met395Arg)
c.1220T>G (p.Met407Arg)
c.818T>G (p.Met273Arg)
c.1067T>G (p.Met356Arg)
c.1277T>G (p.Met426Arg)
c.923T>G (p.Met308Arg)
c.*1212T>G (n.*1212T>G)
c.1196T>G (p.Met399Arg)
c.1217T>G (p.Met406Arg)
c.1424T>G (p.Met475Arg)
c.1199T>G (p.Met400Arg)
c.1421T>G (p.Met474Arg)
c.1321+401T>G (n.1321+401T>G)
c.1271T>G (p.Met424Arg)
c.1064T>G (p.Met355Arg)
c.851T>G (p.Met284Arg)
n.1089T>G
Xg.154564422G>ACA415220104IKBKGc.1185G>A (p.Met395Ile)
c.1221G>A (p.Met407Ile)
c.819G>A (p.Met273Ile)
c.1068G>A (p.Met356Ile)
c.1278G>A (p.Met426Ile)
c.924G>A (p.Met308Ile)
c.*1213G>A (n.*1213G>A)
c.1197G>A (p.Met399Ile)
c.1218G>A (p.Met406Ile)
c.1425G>A (p.Met475Ile)
c.1200G>A (p.Met400Ile)
c.1422G>A (p.Met474Ile)
c.1321+402G>A (n.1321+402G>A)
c.1272G>A (p.Met424Ile)
c.1065G>A (p.Met355Ile)
c.852G>A (p.Met284Ile)
n.1090G>A
Xg.154564422G>CCA415220109IKBKGc.1185G>C (p.Met395Ile)
c.1221G>C (p.Met407Ile)
c.819G>C (p.Met273Ile)
c.1068G>C (p.Met356Ile)
c.1278G>C (p.Met426Ile)
c.924G>C (p.Met308Ile)
c.*1213G>C (n.*1213G>C)
c.1197G>C (p.Met399Ile)
c.1218G>C (p.Met406Ile)
c.1425G>C (p.Met475Ile)
c.1200G>C (p.Met400Ile)
c.1422G>C (p.Met474Ile)
c.1321+402G>C (n.1321+402G>C)
c.1272G>C (p.Met424Ile)
c.1065G>C (p.Met355Ile)
c.852G>C (p.Met284Ile)
n.1090G>C
Xg.154564422G>TCA415220113IKBKGc.1185G>T (p.Met395Ile)
c.1221G>T (p.Met407Ile)
c.819G>T (p.Met273Ile)
c.1068G>T (p.Met356Ile)
c.1278G>T (p.Met426Ile)
c.924G>T (p.Met308Ile)
c.*1213G>T (n.*1213G>T)
c.1197G>T (p.Met399Ile)
c.1218G>T (p.Met406Ile)
c.1425G>T (p.Met475Ile)
c.1200G>T (p.Met400Ile)
c.1422G>T (p.Met474Ile)
c.1321+402G>T (n.1321+402G>T)
c.1272G>T (p.Met424Ile)
c.1065G>T (p.Met355Ile)
c.852G>T (p.Met284Ile)
n.1090G>T
Xg.154564423G>ACA415220119IKBKGc.1186G>A (p.Asp396Asn)
c.1222G>A (p.Asp408Asn)
c.820G>A (p.Asp274Asn)
c.1069G>A (p.Asp357Asn)
c.1279G>A (p.Asp427Asn)
c.925G>A (p.Asp309Asn)
c.*1214G>A (n.*1214G>A)
c.1198G>A (p.Asp400Asn)
c.1219G>A (p.Asp407Asn)
c.1426G>A (p.Asp476Asn)
c.1201G>A (p.Asp401Asn)
c.1423G>A (p.Asp475Asn)
c.1321+403G>A (n.1321+403G>A)
c.1273G>A (p.Asp425Asn)
c.1066G>A (p.Asp356Asn)
c.853G>A (p.Asp285Asn)
n.1091G>A
Xg.154564423G>CCA415220122IKBKGc.1186G>C (p.Asp396His)
c.1222G>C (p.Asp408His)
c.820G>C (p.Asp274His)
c.1069G>C (p.Asp357His)
c.1279G>C (p.Asp427His)
c.925G>C (p.Asp309His)
c.*1214G>C (n.*1214G>C)
c.1198G>C (p.Asp400His)
c.1219G>C (p.Asp407His)
c.1426G>C (p.Asp476His)
c.1201G>C (p.Asp401His)
c.1423G>C (p.Asp475His)
c.1321+403G>C (n.1321+403G>C)
c.1273G>C (p.Asp425His)
c.1066G>C (p.Asp356His)
c.853G>C (p.Asp285His)
n.1091G>C
Xg.154564423G>TCA415220125IKBKGc.1186G>T (p.Asp396Tyr)
c.1222G>T (p.Asp408Tyr)
c.820G>T (p.Asp274Tyr)
c.1069G>T (p.Asp357Tyr)
c.1279G>T (p.Asp427Tyr)
c.925G>T (p.Asp309Tyr)
c.*1214G>T (n.*1214G>T)
c.1198G>T (p.Asp400Tyr)
c.1219G>T (p.Asp407Tyr)
c.1426G>T (p.Asp476Tyr)
c.1201G>T (p.Asp401Tyr)
c.1423G>T (p.Asp475Tyr)
c.1321+403G>T (n.1321+403G>T)
c.1273G>T (p.Asp425Tyr)
c.1066G>T (p.Asp356Tyr)
c.853G>T (p.Asp285Tyr)
n.1091G>T
Xg.154564424A>CCA415220133IKBKGc.1187A>C (p.Asp396Ala)
c.1223A>C (p.Asp408Ala)
c.821A>C (p.Asp274Ala)
c.1070A>C (p.Asp357Ala)
c.1280A>C (p.Asp427Ala)
c.926A>C (p.Asp309Ala)
c.*1215A>C (n.*1215A>C)
c.1199A>C (p.Asp400Ala)
c.1220A>C (p.Asp407Ala)
c.1427A>C (p.Asp476Ala)
c.1202A>C (p.Asp401Ala)
c.1424A>C (p.Asp475Ala)
c.1321+404A>C (n.1321+404A>C)
c.1274A>C (p.Asp425Ala)
c.1067A>C (p.Asp356Ala)
c.854A>C (p.Asp285Ala)
n.1092A>C
Xg.154564424A>GCA415220141IKBKGc.1187A>G (p.Asp396Gly)
c.1223A>G (p.Asp408Gly)
c.821A>G (p.Asp274Gly)
c.1070A>G (p.Asp357Gly)
c.1280A>G (p.Asp427Gly)
c.926A>G (p.Asp309Gly)
c.*1215A>G (n.*1215A>G)
c.1199A>G (p.Asp400Gly)
c.1220A>G (p.Asp407Gly)
c.1427A>G (p.Asp476Gly)
c.1202A>G (p.Asp401Gly)
c.1424A>G (p.Asp475Gly)
c.1321+404A>G (n.1321+404A>G)
c.1274A>G (p.Asp425Gly)
c.1067A>G (p.Asp356Gly)
c.854A>G (p.Asp285Gly)
n.1092A>G
Xg.154564424A>TCA415220144IKBKGc.1187A>T (p.Asp396Val)
c.1223A>T (p.Asp408Val)
c.821A>T (p.Asp274Val)
c.1070A>T (p.Asp357Val)
c.1280A>T (p.Asp427Val)
c.926A>T (p.Asp309Val)
c.*1215A>T (n.*1215A>T)
c.1199A>T (p.Asp400Val)
c.1220A>T (p.Asp407Val)
c.1427A>T (p.Asp476Val)
c.1202A>T (p.Asp401Val)
c.1424A>T (p.Asp475Val)
c.1321+404A>T (n.1321+404A>T)
c.1274A>T (p.Asp425Val)
c.1067A>T (p.Asp356Val)
c.854A>T (p.Asp285Val)
n.1092A>T
Xg.154564425delCA2499226509IKBKGc.1188del (p.Asp396GlufsTer?)
c.1224del (p.Asp408GlufsTer?)
c.822del (p.Asp274GlufsTer?)
c.1071del (p.Asp357GlufsTer?)
c.1281del (p.Asp427GlufsTer?)
c.927del (p.Asp309GlufsTer?)
c.*1216del (n.*1216del)
c.1200del (p.Asp400GlufsTer?)
c.1221del (p.Asp407GlufsTer?)
c.1428del (p.Asp476GlufsTer?)
c.1203del (p.Asp401GlufsTer?)
c.1425del (p.Asp475GlufsTer?)
c.1321+405del (n.1321+405del)
c.1275del (p.Asp425GlufsTer?)
c.1068del (p.Asp356GlufsTer?)
c.855del (p.Asp285GlufsTer?)
n.1093del
 ClinVar dbSNP
Xg.154564425C>ACA415220150IKBKGc.1188C>A (p.Asp396Glu)
c.1224C>A (p.Asp408Glu)
c.822C>A (p.Asp274Glu)
c.1071C>A (p.Asp357Glu)
c.1281C>A (p.Asp427Glu)
c.927C>A (p.Asp309Glu)
c.*1216C>A (n.*1216C>A)
c.1200C>A (p.Asp400Glu)
c.1221C>A (p.Asp407Glu)
c.1428C>A (p.Asp476Glu)
c.1203C>A (p.Asp401Glu)
c.1425C>A (p.Asp475Glu)
c.1321+405C>A (n.1321+405C>A)
c.1275C>A (p.Asp425Glu)
c.1068C>A (p.Asp356Glu)
c.855C>A (p.Asp285Glu)
n.1093C>A
Xg.154564425C>GCA415220153IKBKGc.1188C>G (p.Asp396Glu)
c.1224C>G (p.Asp408Glu)
c.822C>G (p.Asp274Glu)
c.1071C>G (p.Asp357Glu)
c.1281C>G (p.Asp427Glu)
c.927C>G (p.Asp309Glu)
c.*1216C>G (n.*1216C>G)
c.1200C>G (p.Asp400Glu)
c.1221C>G (p.Asp407Glu)
c.1428C>G (p.Asp476Glu)
c.1203C>G (p.Asp401Glu)
c.1425C>G (p.Asp475Glu)
c.1321+405C>G (n.1321+405C>G)
c.1275C>G (p.Asp425Glu)
c.1068C>G (p.Asp356Glu)
c.855C>G (p.Asp285Glu)
n.1093C>G
Xg.154564425C>TCA519287238IKBKGc.1188C>T (p.Asp396=)
c.1224C>T (p.Asp408=)
c.822C>T (p.Asp274=)
c.1071C>T (p.Asp357=)
c.1281C>T (p.Asp427=)
c.927C>T (p.Asp309=)
c.*1216C>T (n.*1216C>T)
c.1200C>T (p.Asp400=)
c.1221C>T (p.Asp407=)
c.1428C>T (p.Asp476=)
c.1203C>T (p.Asp401=)
c.1425C>T (p.Asp475=)
c.1321+405C>T (n.1321+405C>T)
c.1275C>T (p.Asp425=)
c.1068C>T (p.Asp356=)
c.855C>T (p.Asp285=)
n.1093C>T
Xg.154564426A>CCA415220164IKBKGc.1189A>C (p.Thr397Pro)
c.1225A>C (p.Thr409Pro)
c.823A>C (p.Thr275Pro)
c.1072A>C (p.Thr358Pro)
c.1282A>C (p.Thr428Pro)
c.928A>C (p.Thr310Pro)
c.*1217A>C (n.*1217A>C)
c.1201A>C (p.Thr401Pro)
c.1222A>C (p.Thr408Pro)
c.1429A>C (p.Thr477Pro)
c.1204A>C (p.Thr402Pro)
c.1426A>C (p.Thr476Pro)
c.1321+406A>C (n.1321+406A>C)
c.1276A>C (p.Thr426Pro)
c.1069A>C (p.Thr357Pro)
c.856A>C (p.Thr286Pro)
n.1094A>C
Xg.154564426A>GCA415220170IKBKGc.1189A>G (p.Thr397Ala)
c.1225A>G (p.Thr409Ala)
c.823A>G (p.Thr275Ala)
c.1072A>G (p.Thr358Ala)
c.1282A>G (p.Thr428Ala)
c.928A>G (p.Thr310Ala)
c.*1217A>G (n.*1217A>G)
c.1201A>G (p.Thr401Ala)
c.1222A>G (p.Thr408Ala)
c.1429A>G (p.Thr477Ala)
c.1204A>G (p.Thr402Ala)
c.1426A>G (p.Thr476Ala)
c.1321+406A>G (n.1321+406A>G)
c.1276A>G (p.Thr426Ala)
c.1069A>G (p.Thr357Ala)
c.856A>G (p.Thr286Ala)
n.1094A>G
Xg.154564426A>TCA415220161IKBKGc.1189A>T (p.Thr397Ser)
c.1225A>T (p.Thr409Ser)
c.823A>T (p.Thr275Ser)
c.1072A>T (p.Thr358Ser)
c.1282A>T (p.Thr428Ser)
c.928A>T (p.Thr310Ser)
c.*1217A>T (n.*1217A>T)
c.1201A>T (p.Thr401Ser)
c.1222A>T (p.Thr408Ser)
c.1429A>T (p.Thr477Ser)
c.1204A>T (p.Thr402Ser)
c.1426A>T (p.Thr476Ser)
c.1321+406A>T (n.1321+406A>T)
c.1276A>T (p.Thr426Ser)
c.1069A>T (p.Thr357Ser)
c.856A>T (p.Thr286Ser)
n.1094A>T
Xg.154564427C>ACA415220184IKBKGc.1190C>A (p.Thr397Asn)
c.1226C>A (p.Thr409Asn)
c.824C>A (p.Thr275Asn)
c.1073C>A (p.Thr358Asn)
c.1283C>A (p.Thr428Asn)
c.929C>A (p.Thr310Asn)
c.*1218C>A (n.*1218C>A)
c.1202C>A (p.Thr401Asn)
c.1223C>A (p.Thr408Asn)
c.1430C>A (p.Thr477Asn)
c.1205C>A (p.Thr402Asn)
c.1427C>A (p.Thr476Asn)
c.1321+407C>A (n.1321+407C>A)
c.1277C>A (p.Thr426Asn)
c.1070C>A (p.Thr357Asn)
c.857C>A (p.Thr286Asn)
n.1095C>A
Xg.154564427C>GCA415220176IKBKGc.1190C>G (p.Thr397Ser)
c.1226C>G (p.Thr409Ser)
c.824C>G (p.Thr275Ser)
c.1073C>G (p.Thr358Ser)
c.1283C>G (p.Thr428Ser)
c.929C>G (p.Thr310Ser)
c.*1218C>G (n.*1218C>G)
c.1202C>G (p.Thr401Ser)
c.1223C>G (p.Thr408Ser)
c.1430C>G (p.Thr477Ser)
c.1205C>G (p.Thr402Ser)
c.1427C>G (p.Thr476Ser)
c.1321+407C>G (n.1321+407C>G)
c.1277C>G (p.Thr426Ser)
c.1070C>G (p.Thr357Ser)
c.857C>G (p.Thr286Ser)
n.1095C>G
Xg.154564427C>TCA415220180IKBKGc.1190C>T (p.Thr397Ile)
c.1226C>T (p.Thr409Ile)
c.824C>T (p.Thr275Ile)
c.1073C>T (p.Thr358Ile)
c.1283C>T (p.Thr428Ile)
c.929C>T (p.Thr310Ile)
c.*1218C>T (n.*1218C>T)
c.1202C>T (p.Thr401Ile)
c.1223C>T (p.Thr408Ile)
c.1430C>T (p.Thr477Ile)
c.1205C>T (p.Thr402Ile)
c.1427C>T (p.Thr476Ile)
c.1321+407C>T (n.1321+407C>T)
c.1277C>T (p.Thr426Ile)
c.1070C>T (p.Thr357Ile)
c.857C>T (p.Thr286Ile)
n.1095C>T
Xg.154564428C>ACA519287239IKBKGc.1191C>A (p.Thr397=)
c.1227C>A (p.Thr409=)
c.825C>A (p.Thr275=)
c.1074C>A (p.Thr358=)
c.1284C>A (p.Thr428=)
c.930C>A (p.Thr310=)
c.*1219C>A (n.*1219C>A)
c.1203C>A (p.Thr401=)
c.1224C>A (p.Thr408=)
c.1431C>A (p.Thr477=)
c.1206C>A (p.Thr402=)
c.1428C>A (p.Thr476=)
c.1321+408C>A (n.1321+408C>A)
c.1278C>A (p.Thr426=)
c.1071C>A (p.Thr357=)
c.858C>A (p.Thr286=)
n.1096C>A
 dbSNP gnomAD v2
Xg.154564428C=CA2466734064IKBKGc.1191C= (p.Thr397=)
c.1227C= (p.Thr409=)
c.825C= (p.Thr275=)
c.1074C= (p.Thr358=)
c.1284C= (p.Thr428=)
c.930C= (p.Thr310=)
c.*1219C= (n.*1219C=)
c.1203C= (p.Thr401=)
c.1224C= (p.Thr408=)
c.1431C= (p.Thr477=)
c.1206C= (p.Thr402=)
c.1428C= (p.Thr476=)
c.1321+408C= (n.1321+408C=)
c.1278C= (p.Thr426=)
c.1071C= (p.Thr357=)
c.858C= (p.Thr286=)
n.1096C=
Xg.154564428C>GCA519287240IKBKGc.1191C>G (p.Thr397=)
c.1227C>G (p.Thr409=)
c.825C>G (p.Thr275=)
c.1074C>G (p.Thr358=)
c.1284C>G (p.Thr428=)
c.930C>G (p.Thr310=)
c.*1219C>G (n.*1219C>G)
c.1203C>G (p.Thr401=)
c.1224C>G (p.Thr408=)
c.1431C>G (p.Thr477=)
c.1206C>G (p.Thr402=)
c.1428C>G (p.Thr476=)
c.1321+408C>G (n.1321+408C>G)
c.1278C>G (p.Thr426=)
c.1071C>G (p.Thr357=)
c.858C>G (p.Thr286=)
n.1096C>G
Xg.154564428C>TCA519287241IKBKGc.1191C>T (p.Thr397=)
c.1227C>T (p.Thr409=)
c.825C>T (p.Thr275=)
c.1074C>T (p.Thr358=)
c.1284C>T (p.Thr428=)
c.930C>T (p.Thr310=)
c.*1219C>T (n.*1219C>T)
c.1203C>T (p.Thr401=)
c.1224C>T (p.Thr408=)
c.1431C>T (p.Thr477=)
c.1206C>T (p.Thr402=)
c.1428C>T (p.Thr476=)
c.1321+408C>T (n.1321+408C>T)
c.1278C>T (p.Thr426=)
c.1071C>T (p.Thr357=)
c.858C>T (p.Thr286=)
n.1096C>T
Xg.154564429C>ACA415220189IKBKGc.1192C>A (p.Leu398Met)
c.1228C>A (p.Leu410Met)
c.826C>A (p.Leu276Met)
c.1075C>A (p.Leu359Met)
c.1285C>A (p.Leu429Met)
c.931C>A (p.Leu311Met)
c.*1220C>A (n.*1220C>A)
c.1204C>A (p.Leu402Met)
c.1225C>A (p.Leu409Met)
c.1432C>A (p.Leu478Met)
c.1207C>A (p.Leu403Met)
c.1429C>A (p.Leu477Met)
c.1321+409C>A (n.1321+409C>A)
c.1279C>A (p.Leu427Met)
c.1072C>A (p.Leu358Met)
c.859C>A (p.Leu287Met)
n.1097C>A
Xg.154564429C>GCA415220192IKBKGc.1192C>G (p.Leu398Val)
c.1228C>G (p.Leu410Val)
c.826C>G (p.Leu276Val)
c.1075C>G (p.Leu359Val)
c.1285C>G (p.Leu429Val)
c.931C>G (p.Leu311Val)
c.*1220C>G (n.*1220C>G)
c.1204C>G (p.Leu402Val)
c.1225C>G (p.Leu409Val)
c.1432C>G (p.Leu478Val)
c.1207C>G (p.Leu403Val)
c.1429C>G (p.Leu477Val)
c.1321+409C>G (n.1321+409C>G)
c.1279C>G (p.Leu427Val)
c.1072C>G (p.Leu358Val)
c.859C>G (p.Leu287Val)
n.1097C>G
Xg.154564429C>TCA519287242IKBKGc.1192C>T (p.Leu398=)
c.1228C>T (p.Leu410=)
c.826C>T (p.Leu276=)
c.1075C>T (p.Leu359=)
c.1285C>T (p.Leu429=)
c.931C>T (p.Leu311=)
c.*1220C>T (n.*1220C>T)
c.1204C>T (p.Leu402=)
c.1225C>T (p.Leu409=)
c.1432C>T (p.Leu478=)
c.1207C>T (p.Leu403=)
c.1429C>T (p.Leu477=)
c.1321+409C>T (n.1321+409C>T)
c.1279C>T (p.Leu427=)
c.1072C>T (p.Leu358=)
c.859C>T (p.Leu287=)
n.1097C>T
Xg.154564430T>ACA415220196IKBKGc.1193T>A (p.Leu398Gln)
c.1229T>A (p.Leu410Gln)
c.827T>A (p.Leu276Gln)
c.1076T>A (p.Leu359Gln)
c.1286T>A (p.Leu429Gln)
c.932T>A (p.Leu311Gln)
c.*1221T>A (n.*1221T>A)
c.1205T>A (p.Leu402Gln)
c.1226T>A (p.Leu409Gln)
c.1433T>A (p.Leu478Gln)
c.1208T>A (p.Leu403Gln)
c.1430T>A (p.Leu477Gln)
c.1321+410T>A (n.1321+410T>A)
c.1280T>A (p.Leu427Gln)
c.1073T>A (p.Leu358Gln)
c.860T>A (p.Leu287Gln)
n.1098T>A
Xg.154564430T>CCA415220210IKBKGc.1193T>C (p.Leu398Pro)
c.1229T>C (p.Leu410Pro)
c.827T>C (p.Leu276Pro)
c.1076T>C (p.Leu359Pro)
c.1286T>C (p.Leu429Pro)
c.932T>C (p.Leu311Pro)
c.*1221T>C (n.*1221T>C)
c.1205T>C (p.Leu402Pro)
c.1226T>C (p.Leu409Pro)
c.1433T>C (p.Leu478Pro)
c.1208T>C (p.Leu403Pro)
c.1430T>C (p.Leu477Pro)
c.1321+410T>C (n.1321+410T>C)
c.1280T>C (p.Leu427Pro)
c.1073T>C (p.Leu358Pro)
c.860T>C (p.Leu287Pro)
n.1098T>C
Xg.154564430T>GCA415220214IKBKGc.1193T>G (p.Leu398Arg)
c.1229T>G (p.Leu410Arg)
c.827T>G (p.Leu276Arg)
c.1076T>G (p.Leu359Arg)
c.1286T>G (p.Leu429Arg)
c.932T>G (p.Leu311Arg)
c.*1221T>G (n.*1221T>G)
c.1205T>G (p.Leu402Arg)
c.1226T>G (p.Leu409Arg)
c.1433T>G (p.Leu478Arg)
c.1208T>G (p.Leu403Arg)
c.1430T>G (p.Leu477Arg)
c.1321+410T>G (n.1321+410T>G)
c.1280T>G (p.Leu427Arg)
c.1073T>G (p.Leu358Arg)
c.860T>G (p.Leu287Arg)
n.1098T>G
Xg.154564431G>ACA519287243IKBKGc.1194G>A (p.Leu398=)
c.1230G>A (p.Leu410=)
c.828G>A (p.Leu276=)
c.1077G>A (p.Leu359=)
c.1287G>A (p.Leu429=)
c.933G>A (p.Leu311=)
c.*1222G>A (n.*1222G>A)
c.1206G>A (p.Leu402=)
c.1227G>A (p.Leu409=)
c.1434G>A (p.Leu478=)
c.1209G>A (p.Leu403=)
c.1431G>A (p.Leu477=)
c.1321+411G>A (n.1321+411G>A)
c.1281G>A (p.Leu427=)
c.1074G>A (p.Leu358=)
c.861G>A (p.Leu287=)
n.1099G>A
Xg.154564431G>CCA519287245IKBKGc.1194G>C (p.Leu398=)
c.1230G>C (p.Leu410=)
c.828G>C (p.Leu276=)
c.1077G>C (p.Leu359=)
c.1287G>C (p.Leu429=)
c.933G>C (p.Leu311=)
c.*1222G>C (n.*1222G>C)
c.1206G>C (p.Leu402=)
c.1227G>C (p.Leu409=)
c.1434G>C (p.Leu478=)
c.1209G>C (p.Leu403=)
c.1431G>C (p.Leu477=)
c.1321+411G>C (n.1321+411G>C)
c.1281G>C (p.Leu427=)
c.1074G>C (p.Leu358=)
c.861G>C (p.Leu287=)
n.1099G>C
Xg.154564431G>TCA519287244IKBKGc.1194G>T (p.Leu398=)
c.1230G>T (p.Leu410=)
c.828G>T (p.Leu276=)
c.1077G>T (p.Leu359=)
c.1287G>T (p.Leu429=)
c.933G>T (p.Leu311=)
c.*1222G>T (n.*1222G>T)
c.1206G>T (p.Leu402=)
c.1227G>T (p.Leu409=)
c.1434G>T (p.Leu478=)
c.1209G>T (p.Leu403=)
c.1431G>T (p.Leu477=)
c.1321+411G>T (n.1321+411G>T)
c.1281G>T (p.Leu427=)
c.1074G>T (p.Leu358=)
c.861G>T (p.Leu287=)
n.1099G>T
Xg.154564432C>ACA415220221IKBKGc.1195C>A (p.Gln399Lys)
c.1231C>A (p.Gln411Lys)
c.829C>A (p.Gln277Lys)
c.1078C>A (p.Gln360Lys)
c.1288C>A (p.Gln430Lys)
c.934C>A (p.Gln312Lys)
c.*1223C>A (n.*1223C>A)
c.1207C>A (p.Gln403Lys)
c.1228C>A (p.Gln410Lys)
c.1435C>A (p.Gln479Lys)
c.1210C>A (p.Gln404Lys)
c.1432C>A (p.Gln478Lys)
c.1321+412C>A (n.1321+412C>A)
c.1282C>A (p.Gln428Lys)
c.1075C>A (p.Gln359Lys)
c.862C>A (p.Gln288Lys)
n.1100C>A
Xg.154564432C>GCA415220227IKBKGc.1195C>G (p.Gln399Glu)
c.1231C>G (p.Gln411Glu)
c.829C>G (p.Gln277Glu)
c.1078C>G (p.Gln360Glu)
c.1288C>G (p.Gln430Glu)
c.934C>G (p.Gln312Glu)
c.*1223C>G (n.*1223C>G)
c.1207C>G (p.Gln403Glu)
c.1228C>G (p.Gln410Glu)
c.1435C>G (p.Gln479Glu)
c.1210C>G (p.Gln404Glu)
c.1432C>G (p.Gln478Glu)
c.1321+412C>G (n.1321+412C>G)
c.1282C>G (p.Gln428Glu)
c.1075C>G (p.Gln359Glu)
c.862C>G (p.Gln288Glu)
n.1100C>G
Xg.154564432C>TCA415220232IKBKGc.1195C>T (p.Gln399Ter)
c.1231C>T (p.Gln411Ter)
c.829C>T (p.Gln277Ter)
c.1078C>T (p.Gln360Ter)
c.1288C>T (p.Gln430Ter)
c.934C>T (p.Gln312Ter)
c.*1223C>T (n.*1223C>T)
c.1207C>T (p.Gln403Ter)
c.1228C>T (p.Gln410Ter)
c.1435C>T (p.Gln479Ter)
c.1210C>T (p.Gln404Ter)
c.1432C>T (p.Gln478Ter)
c.1321+412C>T (n.1321+412C>T)
c.1282C>T (p.Gln428Ter)
c.1075C>T (p.Gln359Ter)
c.862C>T (p.Gln288Ter)
n.1100C>T
Xg.154564433A>CCA415220238IKBKGc.1196A>C (p.Gln399Pro)
c.1232A>C (p.Gln411Pro)
c.830A>C (p.Gln277Pro)
c.1079A>C (p.Gln360Pro)
c.1289A>C (p.Gln430Pro)
c.935A>C (p.Gln312Pro)
c.*1224A>C (n.*1224A>C)
c.1208A>C (p.Gln403Pro)
c.1229A>C (p.Gln410Pro)
c.1436A>C (p.Gln479Pro)
c.1211A>C (p.Gln404Pro)
c.1433A>C (p.Gln478Pro)
c.1321+413A>C (n.1321+413A>C)
c.1283A>C (p.Gln428Pro)
c.1076A>C (p.Gln359Pro)
c.863A>C (p.Gln288Pro)
n.1101A>C
Xg.154564433A>GCA415220234IKBKGc.1196A>G (p.Gln399Arg)
c.1232A>G (p.Gln411Arg)
c.830A>G (p.Gln277Arg)
c.1079A>G (p.Gln360Arg)
c.1289A>G (p.Gln430Arg)
c.935A>G (p.Gln312Arg)
c.*1224A>G (n.*1224A>G)
c.1208A>G (p.Gln403Arg)
c.1229A>G (p.Gln410Arg)
c.1436A>G (p.Gln479Arg)
c.1211A>G (p.Gln404Arg)
c.1433A>G (p.Gln478Arg)
c.1321+413A>G (n.1321+413A>G)
c.1283A>G (p.Gln428Arg)
c.1076A>G (p.Gln359Arg)
c.863A>G (p.Gln288Arg)
n.1101A>G
Xg.154564433A>TCA415220233IKBKGc.1196A>T (p.Gln399Leu)
c.1232A>T (p.Gln411Leu)
c.830A>T (p.Gln277Leu)
c.1079A>T (p.Gln360Leu)
c.1289A>T (p.Gln430Leu)
c.935A>T (p.Gln312Leu)
c.*1224A>T (n.*1224A>T)
c.1208A>T (p.Gln403Leu)
c.1229A>T (p.Gln410Leu)
c.1436A>T (p.Gln479Leu)
c.1211A>T (p.Gln404Leu)
c.1433A>T (p.Gln478Leu)
c.1321+413A>T (n.1321+413A>T)
c.1283A>T (p.Gln428Leu)
c.1076A>T (p.Gln359Leu)
c.863A>T (p.Gln288Leu)
n.1101A>T
Xg.154564434G>ACA519287246IKBKGc.1197G>A (p.Gln399=)
c.1233G>A (p.Gln411=)
c.831G>A (p.Gln277=)
c.1080G>A (p.Gln360=)
c.1290G>A (p.Gln430=)
c.936G>A (p.Gln312=)
c.*1225G>A (n.*1225G>A)
c.1209G>A (p.Gln403=)
c.1230G>A (p.Gln410=)
c.1437G>A (p.Gln479=)
c.1212G>A (p.Gln404=)
c.1434G>A (p.Gln478=)
c.1321+414G>A (n.1321+414G>A)
c.1284G>A (p.Gln428=)
c.1077G>A (p.Gln359=)
c.864G>A (p.Gln288=)
n.1102G>A
Xg.154564434G>CCA415220243IKBKGc.1197G>C (p.Gln399His)
c.1233G>C (p.Gln411His)
c.831G>C (p.Gln277His)
c.1080G>C (p.Gln360His)
c.1290G>C (p.Gln430His)
c.936G>C (p.Gln312His)
c.*1225G>C (n.*1225G>C)
c.1209G>C (p.Gln403His)
c.1230G>C (p.Gln410His)
c.1437G>C (p.Gln479His)
c.1212G>C (p.Gln404His)
c.1434G>C (p.Gln478His)
c.1321+414G>C (n.1321+414G>C)
c.1284G>C (p.Gln428His)
c.1077G>C (p.Gln359His)
c.864G>C (p.Gln288His)
n.1102G>C
Xg.154564434G>TCA415220246IKBKGc.1197G>T (p.Gln399His)
c.1233G>T (p.Gln411His)
c.831G>T (p.Gln277His)
c.1080G>T (p.Gln360His)
c.1290G>T (p.Gln430His)
c.936G>T (p.Gln312His)
c.*1225G>T (n.*1225G>T)
c.1209G>T (p.Gln403His)
c.1230G>T (p.Gln410His)
c.1437G>T (p.Gln479His)
c.1212G>T (p.Gln404His)
c.1434G>T (p.Gln478His)
c.1321+414G>T (n.1321+414G>T)
c.1284G>T (p.Gln428His)
c.1077G>T (p.Gln359His)
c.864G>T (p.Gln288His)
n.1102G>T
Xg.154564435A>CCA415220253IKBKGc.1198A>C (p.Ile400Leu)
c.1234A>C (p.Ile412Leu)
c.832A>C (p.Ile278Leu)
c.1081A>C (p.Ile361Leu)
c.1291A>C (p.Ile431Leu)
c.937A>C (p.Ile313Leu)
c.*1226A>C (n.*1226A>C)
c.1210A>C (p.Ile404Leu)
c.1231A>C (p.Ile411Leu)
c.1438A>C (p.Ile480Leu)
c.1213A>C (p.Ile405Leu)
c.1435A>C (p.Ile479Leu)
c.1321+415A>C (n.1321+415A>C)
c.1285A>C (p.Ile429Leu)
c.1078A>C (p.Ile360Leu)
c.865A>C (p.Ile289Leu)
n.1103A>C
Xg.154564435A>GCA415220257IKBKGc.1198A>G (p.Ile400Val)
c.1234A>G (p.Ile412Val)
c.832A>G (p.Ile278Val)
c.1081A>G (p.Ile361Val)
c.1291A>G (p.Ile431Val)
c.937A>G (p.Ile313Val)
c.*1226A>G (n.*1226A>G)
c.1210A>G (p.Ile404Val)
c.1231A>G (p.Ile411Val)
c.1438A>G (p.Ile480Val)
c.1213A>G (p.Ile405Val)
c.1435A>G (p.Ile479Val)
c.1321+415A>G (n.1321+415A>G)
c.1285A>G (p.Ile429Val)
c.1078A>G (p.Ile360Val)
c.865A>G (p.Ile289Val)
n.1103A>G
Xg.154564435A>TCA415220258IKBKGc.1198A>T (p.Ile400Leu)
c.1234A>T (p.Ile412Leu)
c.832A>T (p.Ile278Leu)
c.1081A>T (p.Ile361Leu)
c.1291A>T (p.Ile431Leu)
c.937A>T (p.Ile313Leu)
c.*1226A>T (n.*1226A>T)
c.1210A>T (p.Ile404Leu)
c.1231A>T (p.Ile411Leu)
c.1438A>T (p.Ile480Leu)
c.1213A>T (p.Ile405Leu)
c.1435A>T (p.Ile479Leu)
c.1321+415A>T (n.1321+415A>T)
c.1285A>T (p.Ile429Leu)
c.1078A>T (p.Ile360Leu)
c.865A>T (p.Ile289Leu)
n.1103A>T
Xg.154564435_154564436insCCA2695237095IKBKGc.1198_1199insC (p.Ile400ThrfsTer8)
c.1234_1235insC (p.Ile412ThrfsTer8)
c.832_833insC (p.Ile278ThrfsTer8)
c.1081_1082insC (p.Ile361ThrfsTer8)
c.1291_1292insC (p.Ile431ThrfsTer8)
c.937_938insC (p.Ile313ThrfsTer8)
c.*1226_*1227insC (n.*1226_*1227insC)
c.1210_1211insC (p.Ile404ThrfsTer8)
c.1231_1232insC (p.Ile411ThrfsTer8)
c.1438_1439insC (p.Ile480ThrfsTer8)
c.1213_1214insC (p.Ile405ThrfsTer8)
c.1435_1436insC (p.Ile479ThrfsTer8)
c.1321+415_1321+416insC (n.1321+415_1321+416insC)
c.1285_1286insC (p.Ile429ThrfsTer8)
c.1078_1079insC (p.Ile360ThrfsTer8)
c.865_866insC (p.Ile289ThrfsTer8)
n.1103_1104insC
Xg.154564436T>ACA415220261IKBKGc.1199T>A (p.Ile400Lys)
c.1235T>A (p.Ile412Lys)
c.833T>A (p.Ile278Lys)
c.1082T>A (p.Ile361Lys)
c.1292T>A (p.Ile431Lys)
c.938T>A (p.Ile313Lys)
c.*1227T>A (n.*1227T>A)
c.1211T>A (p.Ile404Lys)
c.1232T>A (p.Ile411Lys)
c.1439T>A (p.Ile480Lys)
c.1214T>A (p.Ile405Lys)
c.1436T>A (p.Ile479Lys)
c.1321+416T>A (n.1321+416T>A)
c.1286T>A (p.Ile429Lys)
c.1079T>A (p.Ile360Lys)
c.866T>A (p.Ile289Lys)
n.1104T>A
Xg.154564436T>CCA415220265IKBKGc.1199T>C (p.Ile400Thr)
c.1235T>C (p.Ile412Thr)
c.833T>C (p.Ile278Thr)
c.1082T>C (p.Ile361Thr)
c.1292T>C (p.Ile431Thr)
c.938T>C (p.Ile313Thr)
c.*1227T>C (n.*1227T>C)
c.1211T>C (p.Ile404Thr)
c.1232T>C (p.Ile411Thr)
c.1439T>C (p.Ile480Thr)
c.1214T>C (p.Ile405Thr)
c.1436T>C (p.Ile479Thr)
c.1321+416T>C (n.1321+416T>C)
c.1286T>C (p.Ile429Thr)
c.1079T>C (p.Ile360Thr)
c.866T>C (p.Ile289Thr)
n.1104T>C
Xg.154564436T>GCA415220267IKBKGc.1199T>G (p.Ile400Arg)
c.1235T>G (p.Ile412Arg)
c.833T>G (p.Ile278Arg)
c.1082T>G (p.Ile361Arg)
c.1292T>G (p.Ile431Arg)
c.938T>G (p.Ile313Arg)
c.*1227T>G (n.*1227T>G)
c.1211T>G (p.Ile404Arg)
c.1232T>G (p.Ile411Arg)
c.1439T>G (p.Ile480Arg)
c.1214T>G (p.Ile405Arg)
c.1436T>G (p.Ile479Arg)
c.1321+416T>G (n.1321+416T>G)
c.1286T>G (p.Ile429Arg)
c.1079T>G (p.Ile360Arg)
c.866T>G (p.Ile289Arg)
n.1104T>G
Xg.154564437A>CCA519287247IKBKGc.1200A>C (p.Ile400=)
c.1236A>C (p.Ile412=)
c.834A>C (p.Ile278=)
c.1083A>C (p.Ile361=)
c.1293A>C (p.Ile431=)
c.939A>C (p.Ile313=)
c.*1228A>C (n.*1228A>C)
c.1212A>C (p.Ile404=)
c.1233A>C (p.Ile411=)
c.1440A>C (p.Ile480=)
c.1215A>C (p.Ile405=)
c.1437A>C (p.Ile479=)
c.1321+417A>C (n.1321+417A>C)
c.1287A>C (p.Ile429=)
c.1080A>C (p.Ile360=)
c.867A>C (p.Ile289=)
n.1105A>C
Xg.154564437A>GCA415220276IKBKGc.1200A>G (p.Ile400Met)
c.1236A>G (p.Ile412Met)
c.834A>G (p.Ile278Met)
c.1083A>G (p.Ile361Met)
c.1293A>G (p.Ile431Met)
c.939A>G (p.Ile313Met)
c.*1228A>G (n.*1228A>G)
c.1212A>G (p.Ile404Met)
c.1233A>G (p.Ile411Met)
c.1440A>G (p.Ile480Met)
c.1215A>G (p.Ile405Met)
c.1437A>G (p.Ile479Met)
c.1321+417A>G (n.1321+417A>G)
c.1287A>G (p.Ile429Met)
c.1080A>G (p.Ile360Met)
c.867A>G (p.Ile289Met)
n.1105A>G
Xg.154564437A>TCA519287248IKBKGc.1200A>T (p.Ile400=)
c.1236A>T (p.Ile412=)
c.834A>T (p.Ile278=)
c.1083A>T (p.Ile361=)
c.1293A>T (p.Ile431=)
c.939A>T (p.Ile313=)
c.*1228A>T (n.*1228A>T)
c.1212A>T (p.Ile404=)
c.1233A>T (p.Ile411=)
c.1440A>T (p.Ile480=)
c.1215A>T (p.Ile405=)
c.1437A>T (p.Ile479=)
c.1321+417A>T (n.1321+417A>T)
c.1287A>T (p.Ile429=)
c.1080A>T (p.Ile360=)
c.867A>T (p.Ile289=)
n.1105A>T
Xg.154564438C>ACA415220290IKBKGc.1201C>A (p.His401Asn)
c.1237C>A (p.His413Asn)
c.835C>A (p.His279Asn)
c.1084C>A (p.His362Asn)
c.1294C>A (p.His432Asn)
c.940C>A (p.His314Asn)
c.*1229C>A (n.*1229C>A)
c.1213C>A (p.His405Asn)
c.1234C>A (p.His412Asn)
c.1441C>A (p.His481Asn)
c.1216C>A (p.His406Asn)
c.1438C>A (p.His480Asn)
c.1321+418C>A (n.1321+418C>A)
c.1288C>A (p.His430Asn)
c.1081C>A (p.His361Asn)
c.868C>A (p.His290Asn)
n.1106C>A
Xg.154564438C>GCA415220301IKBKGc.1201C>G (p.His401Asp)
c.1237C>G (p.His413Asp)
c.835C>G (p.His279Asp)
c.1084C>G (p.His362Asp)
c.1294C>G (p.His432Asp)
c.940C>G (p.His314Asp)
c.*1229C>G (n.*1229C>G)
c.1213C>G (p.His405Asp)
c.1234C>G (p.His412Asp)
c.1441C>G (p.His481Asp)
c.1216C>G (p.His406Asp)
c.1438C>G (p.His480Asp)
c.1321+418C>G (n.1321+418C>G)
c.1288C>G (p.His430Asp)
c.1081C>G (p.His361Asp)
c.868C>G (p.His290Asp)
n.1106C>G
Xg.154564438C>TCA415220303IKBKGc.1201C>T (p.His401Tyr)
c.1237C>T (p.His413Tyr)
c.835C>T (p.His279Tyr)
c.1084C>T (p.His362Tyr)
c.1294C>T (p.His432Tyr)
c.940C>T (p.His314Tyr)
c.*1229C>T (n.*1229C>T)
c.1213C>T (p.His405Tyr)
c.1234C>T (p.His412Tyr)
c.1441C>T (p.His481Tyr)
c.1216C>T (p.His406Tyr)
c.1438C>T (p.His480Tyr)
c.1321+418C>T (n.1321+418C>T)
c.1288C>T (p.His430Tyr)
c.1081C>T (p.His361Tyr)
c.868C>T (p.His290Tyr)
n.1106C>T
Xg.154564439A>CCA415220309IKBKGc.1202A>C (p.His401Pro)
c.1238A>C (p.His413Pro)
c.836A>C (p.His279Pro)
c.1085A>C (p.His362Pro)
c.1295A>C (p.His432Pro)
c.941A>C (p.His314Pro)
c.*1230A>C (n.*1230A>C)
c.1214A>C (p.His405Pro)
c.1235A>C (p.His412Pro)
c.1442A>C (p.His481Pro)
c.1217A>C (p.His406Pro)
c.1439A>C (p.His480Pro)
c.1321+419A>C (n.1321+419A>C)
c.1289A>C (p.His430Pro)
c.1082A>C (p.His361Pro)
c.869A>C (p.His290Pro)
n.1107A>C
Xg.154564439A>GCA415220308IKBKGc.1202A>G (p.His401Arg)
c.1238A>G (p.His413Arg)
c.836A>G (p.His279Arg)
c.1085A>G (p.His362Arg)
c.1295A>G (p.His432Arg)
c.941A>G (p.His314Arg)
c.*1230A>G (n.*1230A>G)
c.1214A>G (p.His405Arg)
c.1235A>G (p.His412Arg)
c.1442A>G (p.His481Arg)
c.1217A>G (p.His406Arg)
c.1439A>G (p.His480Arg)
c.1321+419A>G (n.1321+419A>G)
c.1289A>G (p.His430Arg)
c.1082A>G (p.His361Arg)
c.869A>G (p.His290Arg)
n.1107A>G
Xg.154564439A>TCA415220307IKBKGc.1202A>T (p.His401Leu)
c.1238A>T (p.His413Leu)
c.836A>T (p.His279Leu)
c.1085A>T (p.His362Leu)
c.1295A>T (p.His432Leu)
c.941A>T (p.His314Leu)
c.*1230A>T (n.*1230A>T)
c.1214A>T (p.His405Leu)
c.1235A>T (p.His412Leu)
c.1442A>T (p.His481Leu)
c.1217A>T (p.His406Leu)
c.1439A>T (p.His480Leu)
c.1321+419A>T (n.1321+419A>T)
c.1289A>T (p.His430Leu)
c.1082A>T (p.His361Leu)
c.869A>T (p.His290Leu)
n.1107A>T
Xg.154564440T>ACA415220319IKBKGc.1203T>A (p.His401Gln)
c.1239T>A (p.His413Gln)
c.837T>A (p.His279Gln)
c.1086T>A (p.His362Gln)
c.1296T>A (p.His432Gln)
c.942T>A (p.His314Gln)
c.*1231T>A (n.*1231T>A)
c.1215T>A (p.His405Gln)
c.1236T>A (p.His412Gln)
c.1443T>A (p.His481Gln)
c.1218T>A (p.His406Gln)
c.1440T>A (p.His480Gln)
c.1321+420T>A (n.1321+420T>A)
c.1290T>A (p.His430Gln)
c.1083T>A (p.His361Gln)
c.870T>A (p.His290Gln)
n.1108T>A
Xg.154564440T>CCA519287249IKBKGc.1203T>C (p.His401=)
c.1239T>C (p.His413=)
c.837T>C (p.His279=)
c.1086T>C (p.His362=)
c.1296T>C (p.His432=)
c.942T>C (p.His314=)
c.*1231T>C (n.*1231T>C)
c.1215T>C (p.His405=)
c.1236T>C (p.His412=)
c.1443T>C (p.His481=)
c.1218T>C (p.His406=)
c.1440T>C (p.His480=)
c.1321+420T>C (n.1321+420T>C)
c.1290T>C (p.His430=)
c.1083T>C (p.His361=)
c.870T>C (p.His290=)
n.1108T>C
 dbSNP gnomAD v2
Xg.154564440T>GCA415220314IKBKGc.1203T>G (p.His401Gln)
c.1239T>G (p.His413Gln)
c.837T>G (p.His279Gln)
c.1086T>G (p.His362Gln)
c.1296T>G (p.His432Gln)
c.942T>G (p.His314Gln)
c.*1231T>G (n.*1231T>G)
c.1215T>G (p.His405Gln)
c.1236T>G (p.His412Gln)
c.1443T>G (p.His481Gln)
c.1218T>G (p.His406Gln)
c.1440T>G (p.His480Gln)
c.1321+420T>G (n.1321+420T>G)
c.1290T>G (p.His430Gln)
c.1083T>G (p.His361Gln)
c.870T>G (p.His290Gln)
n.1108T>G
Xg.154564440T=CA2466734065IKBKGc.1203T= (p.His401=)
c.1239T= (p.His413=)
c.837T= (p.His279=)
c.1086T= (p.His362=)
c.1296T= (p.His432=)
c.942T= (p.His314=)
c.*1231T= (n.*1231T=)
c.1215T= (p.His405=)
c.1236T= (p.His412=)
c.1443T= (p.His481=)
c.1218T= (p.His406=)
c.1440T= (p.His480=)
c.1321+420T= (n.1321+420T=)
c.1290T= (p.His430=)
c.1083T= (p.His361=)
c.870T= (p.His290=)
n.1108T=
Xg.154564441G>ACA415220324IKBKGc.1204G>A (p.Val402Ile)
c.1240G>A (p.Val414Ile)
c.838G>A (p.Val280Ile)
c.1087G>A (p.Val363Ile)
c.1297G>A (p.Val433Ile)
c.943G>A (p.Val315Ile)
c.*1232G>A (n.*1232G>A)
c.1216G>A (p.Val406Ile)
c.1237G>A (p.Val413Ile)
c.1444G>A (p.Val482Ile)
c.1219G>A (p.Val407Ile)
c.1441G>A (p.Val481Ile)
c.1321+421G>A (n.1321+421G>A)
c.1291G>A (p.Val431Ile)
c.1084G>A (p.Val362Ile)
c.871G>A (p.Val291Ile)
n.1109G>A
Xg.154564441G>CCA415220326IKBKGc.1204G>C (p.Val402Leu)
c.1240G>C (p.Val414Leu)
c.838G>C (p.Val280Leu)
c.1087G>C (p.Val363Leu)
c.1297G>C (p.Val433Leu)
c.943G>C (p.Val315Leu)
c.*1232G>C (n.*1232G>C)
c.1216G>C (p.Val406Leu)
c.1237G>C (p.Val413Leu)
c.1444G>C (p.Val482Leu)
c.1219G>C (p.Val407Leu)
c.1441G>C (p.Val481Leu)
c.1321+421G>C (n.1321+421G>C)
c.1291G>C (p.Val431Leu)
c.1084G>C (p.Val362Leu)
c.871G>C (p.Val291Leu)
n.1109G>C
Xg.154564441G>TCA415220328IKBKGc.1204G>T (p.Val402Phe)
c.1240G>T (p.Val414Phe)
c.838G>T (p.Val280Phe)
c.1087G>T (p.Val363Phe)
c.1297G>T (p.Val433Phe)
c.943G>T (p.Val315Phe)
c.*1232G>T (n.*1232G>T)
c.1216G>T (p.Val406Phe)
c.1237G>T (p.Val413Phe)
c.1444G>T (p.Val482Phe)
c.1219G>T (p.Val407Phe)
c.1441G>T (p.Val481Phe)
c.1321+421G>T (n.1321+421G>T)
c.1291G>T (p.Val431Phe)
c.1084G>T (p.Val362Phe)
c.871G>T (p.Val291Phe)
n.1109G>T
Xg.154564442T>ACA415220331IKBKGc.1205T>A (p.Val402Asp)
c.1241T>A (p.Val414Asp)
c.839T>A (p.Val280Asp)
c.1088T>A (p.Val363Asp)
c.1298T>A (p.Val433Asp)
c.944T>A (p.Val315Asp)
c.*1233T>A (n.*1233T>A)
c.1217T>A (p.Val406Asp)
c.1238T>A (p.Val413Asp)
c.1445T>A (p.Val482Asp)
c.1220T>A (p.Val407Asp)
c.1442T>A (p.Val481Asp)
c.1321+422T>A (n.1321+422T>A)
c.1292T>A (p.Val431Asp)
c.1085T>A (p.Val362Asp)
c.872T>A (p.Val291Asp)
n.1110T>A
Xg.154564442T>CCA415220334IKBKGc.1205T>C (p.Val402Ala)
c.1241T>C (p.Val414Ala)
c.839T>C (p.Val280Ala)
c.1088T>C (p.Val363Ala)
c.1298T>C (p.Val433Ala)
c.944T>C (p.Val315Ala)
c.*1233T>C (n.*1233T>C)
c.1217T>C (p.Val406Ala)
c.1238T>C (p.Val413Ala)
c.1445T>C (p.Val482Ala)
c.1220T>C (p.Val407Ala)
c.1442T>C (p.Val481Ala)
c.1321+422T>C (n.1321+422T>C)
c.1292T>C (p.Val431Ala)
c.1085T>C (p.Val362Ala)
c.872T>C (p.Val291Ala)
n.1110T>C
Xg.154564442T>GCA415220336IKBKGc.1205T>G (p.Val402Gly)
c.1241T>G (p.Val414Gly)
c.839T>G (p.Val280Gly)
c.1088T>G (p.Val363Gly)
c.1298T>G (p.Val433Gly)
c.944T>G (p.Val315Gly)
c.*1233T>G (n.*1233T>G)
c.1217T>G (p.Val406Gly)
c.1238T>G (p.Val413Gly)
c.1445T>G (p.Val482Gly)
c.1220T>G (p.Val407Gly)
c.1442T>G (p.Val481Gly)
c.1321+422T>G (n.1321+422T>G)
c.1292T>G (p.Val431Gly)
c.1085T>G (p.Val362Gly)
c.872T>G (p.Val291Gly)
n.1110T>G
Xg.154564443C>ACA519287250IKBKGc.1206C>A (p.Val402=)
c.1242C>A (p.Val414=)
c.840C>A (p.Val280=)
c.1089C>A (p.Val363=)
c.1299C>A (p.Val433=)
c.945C>A (p.Val315=)
c.*1234C>A (n.*1234C>A)
c.1218C>A (p.Val406=)
c.1239C>A (p.Val413=)
c.1446C>A (p.Val482=)
c.1221C>A (p.Val407=)
c.1443C>A (p.Val481=)
c.1321+423C>A (n.1321+423C>A)
c.1293C>A (p.Val431=)
c.1086C>A (p.Val362=)
c.873C>A (p.Val291=)
n.1111C>A
Xg.154564443C=CA2466734066IKBKGc.1206C= (p.Val402=)
c.1242C= (p.Val414=)
c.840C= (p.Val280=)
c.1089C= (p.Val363=)
c.1299C= (p.Val433=)
c.945C= (p.Val315=)
c.*1234C= (n.*1234C=)
c.1218C= (p.Val406=)
c.1239C= (p.Val413=)
c.1446C= (p.Val482=)
c.1221C= (p.Val407=)
c.1443C= (p.Val481=)
c.1321+423C= (n.1321+423C=)
c.1293C= (p.Val431=)
c.1086C= (p.Val362=)
c.873C= (p.Val291=)
n.1111C=
Xg.154564443C>GCA519287251IKBKGc.1206C>G (p.Val402=)
c.1242C>G (p.Val414=)
c.840C>G (p.Val280=)
c.1089C>G (p.Val363=)
c.1299C>G (p.Val433=)
c.945C>G (p.Val315=)
c.*1234C>G (n.*1234C>G)
c.1218C>G (p.Val406=)
c.1239C>G (p.Val413=)
c.1446C>G (p.Val482=)
c.1221C>G (p.Val407=)
c.1443C>G (p.Val481=)
c.1321+423C>G (n.1321+423C>G)
c.1293C>G (p.Val431=)
c.1086C>G (p.Val362=)
c.873C>G (p.Val291=)
n.1111C>G
 dbSNP gnomAD v2
Xg.154564443C>TCA519287252IKBKGc.1206C>T (p.Val402=)
c.1242C>T (p.Val414=)
c.840C>T (p.Val280=)
c.1089C>T (p.Val363=)
c.1299C>T (p.Val433=)
c.945C>T (p.Val315=)
c.*1234C>T (n.*1234C>T)
c.1218C>T (p.Val406=)
c.1239C>T (p.Val413=)
c.1446C>T (p.Val482=)
c.1221C>T (p.Val407=)
c.1443C>T (p.Val481=)
c.1321+423C>T (n.1321+423C>T)
c.1293C>T (p.Val431=)
c.1086C>T (p.Val362=)
c.873C>T (p.Val291=)
n.1111C>T
Xg.154564444A>CCA415220338IKBKGc.1207A>C (p.Met403Leu)
c.1243A>C (p.Met415Leu)
c.841A>C (p.Met281Leu)
c.1090A>C (p.Met364Leu)
c.1300A>C (p.Met434Leu)
c.946A>C (p.Met316Leu)
c.*1235A>C (n.*1235A>C)
c.1219A>C (p.Met407Leu)
c.1240A>C (p.Met414Leu)
c.1447A>C (p.Met483Leu)
c.1222A>C (p.Met408Leu)
c.1444A>C (p.Met482Leu)
c.1321+424A>C (n.1321+424A>C)
c.1294A>C (p.Met432Leu)
c.1087A>C (p.Met363Leu)
c.874A>C (p.Met292Leu)
n.1112A>C
Xg.154564444A>GCA415220340IKBKGc.1207A>G (p.Met403Val)
c.1243A>G (p.Met415Val)
c.841A>G (p.Met281Val)
c.1090A>G (p.Met364Val)
c.1300A>G (p.Met434Val)
c.946A>G (p.Met316Val)
c.*1235A>G (n.*1235A>G)
c.1219A>G (p.Met407Val)
c.1240A>G (p.Met414Val)
c.1447A>G (p.Met483Val)
c.1222A>G (p.Met408Val)
c.1444A>G (p.Met482Val)
c.1321+424A>G (n.1321+424A>G)
c.1294A>G (p.Met432Val)
c.1087A>G (p.Met363Val)
c.874A>G (p.Met292Val)
n.1112A>G
Xg.154564444A>TCA415220347IKBKGc.1207A>T (p.Met403Leu)
c.1243A>T (p.Met415Leu)
c.841A>T (p.Met281Leu)
c.1090A>T (p.Met364Leu)
c.1300A>T (p.Met434Leu)
c.946A>T (p.Met316Leu)
c.*1235A>T (n.*1235A>T)
c.1219A>T (p.Met407Leu)
c.1240A>T (p.Met414Leu)
c.1447A>T (p.Met483Leu)
c.1222A>T (p.Met408Leu)
c.1444A>T (p.Met482Leu)
c.1321+424A>T (n.1321+424A>T)
c.1294A>T (p.Met432Leu)
c.1087A>T (p.Met363Leu)
c.874A>T (p.Met292Leu)
n.1112A>T
Xg.154564445T>ACA415220350IKBKGc.1208T>A (p.Met403Lys)
c.1244T>A (p.Met415Lys)
c.842T>A (p.Met281Lys)
c.1091T>A (p.Met364Lys)
c.1301T>A (p.Met434Lys)
c.947T>A (p.Met316Lys)
c.*1236T>A (n.*1236T>A)
c.1220T>A (p.Met407Lys)
c.1241T>A (p.Met414Lys)
c.1448T>A (p.Met483Lys)
c.1223T>A (p.Met408Lys)
c.1445T>A (p.Met482Lys)
c.1321+425T>A (n.1321+425T>A)
c.1295T>A (p.Met432Lys)
c.1088T>A (p.Met363Lys)
c.875T>A (p.Met292Lys)
n.1113T>A
Xg.154564445T>CCA415220355IKBKGc.1208T>C (p.Met403Thr)
c.1244T>C (p.Met415Thr)
c.842T>C (p.Met281Thr)
c.1091T>C (p.Met364Thr)
c.1301T>C (p.Met434Thr)
c.947T>C (p.Met316Thr)
c.*1236T>C (n.*1236T>C)
c.1220T>C (p.Met407Thr)
c.1241T>C (p.Met414Thr)
c.1448T>C (p.Met483Thr)
c.1223T>C (p.Met408Thr)
c.1445T>C (p.Met482Thr)
c.1321+425T>C (n.1321+425T>C)
c.1295T>C (p.Met432Thr)
c.1088T>C (p.Met363Thr)
c.875T>C (p.Met292Thr)
n.1113T>C
Xg.154564445T>GCA415220360IKBKGc.1208T>G (p.Met403Arg)
c.1244T>G (p.Met415Arg)
c.842T>G (p.Met281Arg)
c.1091T>G (p.Met364Arg)
c.1301T>G (p.Met434Arg)
c.947T>G (p.Met316Arg)
c.*1236T>G (n.*1236T>G)
c.1220T>G (p.Met407Arg)
c.1241T>G (p.Met414Arg)
c.1448T>G (p.Met483Arg)
c.1223T>G (p.Met408Arg)
c.1445T>G (p.Met482Arg)
c.1321+425T>G (n.1321+425T>G)
c.1295T>G (p.Met432Arg)
c.1088T>G (p.Met363Arg)
c.875T>G (p.Met292Arg)
n.1113T>G
Xg.154564445dupCA2573320573IKBKGc.1208dup (p.Met403IlefsTer5)
c.1244dup (p.Met415IlefsTer5)
c.842dup (p.Met281IlefsTer5)
c.1091dup (p.Met364IlefsTer5)
c.1301dup (p.Met434IlefsTer5)
c.947dup (p.Met316IlefsTer5)
c.*1236dup (n.*1236dup)
c.1220dup (p.Met407IlefsTer5)
c.1241dup (p.Met414IlefsTer5)
c.1448dup (p.Met483IlefsTer5)
c.1223dup (p.Met408IlefsTer5)
c.1445dup (p.Met482IlefsTer5)
c.1321+425dup (n.1321+425dup)
c.1295dup (p.Met432IlefsTer5)
c.1088dup (p.Met363IlefsTer5)
c.875dup (p.Met292IlefsTer5)
n.1113dup
Xg.154564446G>ACA415220364IKBKGc.1209G>A (p.Met403Ile)
c.1245G>A (p.Met415Ile)
c.843G>A (p.Met281Ile)
c.1092G>A (p.Met364Ile)
c.1302G>A (p.Met434Ile)
c.948G>A (p.Met316Ile)
c.*1237G>A (n.*1237G>A)
c.1221G>A (p.Met407Ile)
c.1242G>A (p.Met414Ile)
c.1449G>A (p.Met483Ile)
c.1224G>A (p.Met408Ile)
c.1446G>A (p.Met482Ile)
c.1321+426G>A (n.1321+426G>A)
c.1296G>A (p.Met432Ile)
c.1089G>A (p.Met363Ile)
c.876G>A (p.Met292Ile)
n.1114G>A
Xg.154564446G>CCA415220374IKBKGc.1209G>C (p.Met403Ile)
c.1245G>C (p.Met415Ile)
c.843G>C (p.Met281Ile)
c.1092G>C (p.Met364Ile)
c.1302G>C (p.Met434Ile)
c.948G>C (p.Met316Ile)
c.*1237G>C (n.*1237G>C)
c.1221G>C (p.Met407Ile)
c.1242G>C (p.Met414Ile)
c.1449G>C (p.Met483Ile)
c.1224G>C (p.Met408Ile)
c.1446G>C (p.Met482Ile)
c.1321+426G>C (n.1321+426G>C)
c.1296G>C (p.Met432Ile)
c.1089G>C (p.Met363Ile)
c.876G>C (p.Met292Ile)
n.1114G>C
Xg.154564446G>TCA415220370IKBKGc.1209G>T (p.Met403Ile)
c.1245G>T (p.Met415Ile)
c.843G>T (p.Met281Ile)
c.1092G>T (p.Met364Ile)
c.1302G>T (p.Met434Ile)
c.948G>T (p.Met316Ile)
c.*1237G>T (n.*1237G>T)
c.1221G>T (p.Met407Ile)
c.1242G>T (p.Met414Ile)
c.1449G>T (p.Met483Ile)
c.1224G>T (p.Met408Ile)
c.1446G>T (p.Met482Ile)
c.1321+426G>T (n.1321+426G>T)
c.1296G>T (p.Met432Ile)
c.1089G>T (p.Met363Ile)
c.876G>T (p.Met292Ile)
n.1114G>T
Xg.154564447G>ACA415220382IKBKGc.1210G>A (p.Glu404Lys)
c.1246G>A (p.Glu416Lys)
c.844G>A (p.Glu282Lys)
c.1093G>A (p.Glu365Lys)
c.1303G>A (p.Glu435Lys)
c.949G>A (p.Glu317Lys)
c.*1238G>A (n.*1238G>A)
c.1222G>A (p.Glu408Lys)
c.1243G>A (p.Glu415Lys)
c.1450G>A (p.Glu484Lys)
c.1225G>A (p.Glu409Lys)
c.1447G>A (p.Glu483Lys)
c.1321+427G>A (n.1321+427G>A)
c.1297G>A (p.Glu433Lys)
c.1090G>A (p.Glu364Lys)
c.877G>A (p.Glu293Lys)
n.1115G>A
Xg.154564447G>CCA415220390IKBKGc.1210G>C (p.Glu404Gln)
c.1246G>C (p.Glu416Gln)
c.844G>C (p.Glu282Gln)
c.1093G>C (p.Glu365Gln)
c.1303G>C (p.Glu435Gln)
c.949G>C (p.Glu317Gln)
c.*1238G>C (n.*1238G>C)
c.1222G>C (p.Glu408Gln)
c.1243G>C (p.Glu415Gln)
c.1450G>C (p.Glu484Gln)
c.1225G>C (p.Glu409Gln)
c.1447G>C (p.Glu483Gln)
c.1321+427G>C (n.1321+427G>C)
c.1297G>C (p.Glu433Gln)
c.1090G>C (p.Glu364Gln)
c.877G>C (p.Glu293Gln)
n.1115G>C
Xg.154564447G>TCA415220396IKBKGc.1210G>T (p.Glu404Ter)
c.1246G>T (p.Glu416Ter)
c.844G>T (p.Glu282Ter)
c.1093G>T (p.Glu365Ter)
c.1303G>T (p.Glu435Ter)
c.949G>T (p.Glu317Ter)
c.*1238G>T (n.*1238G>T)
c.1222G>T (p.Glu408Ter)
c.1243G>T (p.Glu415Ter)
c.1450G>T (p.Glu484Ter)
c.1225G>T (p.Glu409Ter)
c.1447G>T (p.Glu483Ter)
c.1321+427G>T (n.1321+427G>T)
c.1297G>T (p.Glu433Ter)
c.1090G>T (p.Glu364Ter)
c.877G>T (p.Glu293Ter)
n.1115G>T
Xg.154564448A>CCA415220400IKBKGc.1211A>C (p.Glu404Ala)
c.1247A>C (p.Glu416Ala)
c.845A>C (p.Glu282Ala)
c.1094A>C (p.Glu365Ala)
c.1304A>C (p.Glu435Ala)
c.950A>C (p.Glu317Ala)
c.*1239A>C (n.*1239A>C)
c.1223A>C (p.Glu408Ala)
c.1244A>C (p.Glu415Ala)
c.1451A>C (p.Glu484Ala)
c.1226A>C (p.Glu409Ala)
c.1448A>C (p.Glu483Ala)
c.1321+428A>C (n.1321+428A>C)
c.1298A>C (p.Glu433Ala)
c.1091A>C (p.Glu364Ala)
c.878A>C (p.Glu293Ala)
n.1116A>C
Xg.154564448A>GCA415220402IKBKGc.1211A>G (p.Glu404Gly)
c.1247A>G (p.Glu416Gly)
c.845A>G (p.Glu282Gly)
c.1094A>G (p.Glu365Gly)
c.1304A>G (p.Glu435Gly)
c.950A>G (p.Glu317Gly)
c.*1239A>G (n.*1239A>G)
c.1223A>G (p.Glu408Gly)
c.1244A>G (p.Glu415Gly)
c.1451A>G (p.Glu484Gly)
c.1226A>G (p.Glu409Gly)
c.1448A>G (p.Glu483Gly)
c.1321+428A>G (n.1321+428A>G)
c.1298A>G (p.Glu433Gly)
c.1091A>G (p.Glu364Gly)
c.878A>G (p.Glu293Gly)
n.1116A>G
Xg.154564448A>TCA415220407IKBKGc.1211A>T (p.Glu404Val)
c.1247A>T (p.Glu416Val)
c.845A>T (p.Glu282Val)
c.1094A>T (p.Glu365Val)
c.1304A>T (p.Glu435Val)
c.950A>T (p.Glu317Val)
c.*1239A>T (n.*1239A>T)
c.1223A>T (p.Glu408Val)
c.1244A>T (p.Glu415Val)
c.1451A>T (p.Glu484Val)
c.1226A>T (p.Glu409Val)
c.1448A>T (p.Glu483Val)
c.1321+428A>T (n.1321+428A>T)
c.1298A>T (p.Glu433Val)
c.1091A>T (p.Glu364Val)
c.878A>T (p.Glu293Val)
n.1116A>T
Xg.154564449G>ACA519287253IKBKGc.1212G>A (p.Glu404=)
c.1248G>A (p.Glu416=)
c.846G>A (p.Glu282=)
c.1095G>A (p.Glu365=)
c.1305G>A (p.Glu435=)
c.951G>A (p.Glu317=)
c.*1240G>A (n.*1240G>A)
c.1224G>A (p.Glu408=)
c.1245G>A (p.Glu415=)
c.1452G>A (p.Glu484=)
c.1227G>A (p.Glu409=)
c.1449G>A (p.Glu483=)
c.1321+429G>A (n.1321+429G>A)
c.1299G>A (p.Glu433=)
c.1092G>A (p.Glu364=)
c.879G>A (p.Glu293=)
n.1117G>A
Xg.154564449G>CCA415220426IKBKGc.1212G>C (p.Glu404Asp)
c.1248G>C (p.Glu416Asp)
c.846G>C (p.Glu282Asp)
c.1095G>C (p.Glu365Asp)
c.1305G>C (p.Glu435Asp)
c.951G>C (p.Glu317Asp)
c.*1240G>C (n.*1240G>C)
c.1224G>C (p.Glu408Asp)
c.1245G>C (p.Glu415Asp)
c.1452G>C (p.Glu484Asp)
c.1227G>C (p.Glu409Asp)
c.1449G>C (p.Glu483Asp)
c.1321+429G>C (n.1321+429G>C)
c.1299G>C (p.Glu433Asp)
c.1092G>C (p.Glu364Asp)
c.879G>C (p.Glu293Asp)
n.1117G>C
Xg.154564449G>TCA415220431IKBKGc.1212G>T (p.Glu404Asp)
c.1248G>T (p.Glu416Asp)
c.846G>T (p.Glu282Asp)
c.1095G>T (p.Glu365Asp)
c.1305G>T (p.Glu435Asp)
c.951G>T (p.Glu317Asp)
c.*1240G>T (n.*1240G>T)
c.1224G>T (p.Glu408Asp)
c.1245G>T (p.Glu415Asp)
c.1452G>T (p.Glu484Asp)
c.1227G>T (p.Glu409Asp)
c.1449G>T (p.Glu483Asp)
c.1321+429G>T (n.1321+429G>T)
c.1299G>T (p.Glu433Asp)
c.1092G>T (p.Glu364Asp)
c.879G>T (p.Glu293Asp)
n.1117G>T
Xg.154564450T>ACA415220435IKBKGc.1213T>A (p.Cys405Ser)
c.1249T>A (p.Cys417Ser)
c.847T>A (p.Cys283Ser)
c.1096T>A (p.Cys366Ser)
c.1306T>A (p.Cys436Ser)
c.952T>A (p.Cys318Ser)
c.*1241T>A (n.*1241T>A)
c.1225T>A (p.Cys409Ser)
c.1246T>A (p.Cys416Ser)
c.1453T>A (p.Cys485Ser)
c.1228T>A (p.Cys410Ser)
c.1450T>A (p.Cys484Ser)
c.1321+430T>A (n.1321+430T>A)
c.1300T>A (p.Cys434Ser)
c.1093T>A (p.Cys365Ser)
c.880T>A (p.Cys294Ser)
n.1118T>A
Xg.154564450T>CCA121473IKBKGc.1213T>C (p.Cys405Arg)
c.1249T>C (p.Cys417Arg)
c.847T>C (p.Cys283Arg)
c.1096T>C (p.Cys366Arg)
c.1306T>C (p.Cys436Arg)
c.952T>C (p.Cys318Arg)
c.*1241T>C (n.*1241T>C)
c.1225T>C (p.Cys409Arg)
c.1246T>C (p.Cys416Arg)
c.1453T>C (p.Cys485Arg)
c.1228T>C (p.Cys410Arg)
c.1450T>C (p.Cys484Arg)
c.1321+430T>C (n.1321+430T>C)
c.1300T>C (p.Cys434Arg)
c.1093T>C (p.Cys365Arg)
c.880T>C (p.Cys294Arg)
n.1118T>C
 ClinVar dbSNP
Xg.154564450T>GCA415220450IKBKGc.1213T>G (p.Cys405Gly)
c.1249T>G (p.Cys417Gly)
c.847T>G (p.Cys283Gly)
c.1096T>G (p.Cys366Gly)
c.1306T>G (p.Cys436Gly)
c.952T>G (p.Cys318Gly)
c.*1241T>G (n.*1241T>G)
c.1225T>G (p.Cys409Gly)
c.1246T>G (p.Cys416Gly)
c.1453T>G (p.Cys485Gly)
c.1228T>G (p.Cys410Gly)
c.1450T>G (p.Cys484Gly)
c.1321+430T>G (n.1321+430T>G)
c.1300T>G (p.Cys434Gly)
c.1093T>G (p.Cys365Gly)
c.880T>G (p.Cys294Gly)
n.1118T>G
Xg.154564450T=CA2466734067IKBKGc.1213T= (p.Cys405=)
c.1249T= (p.Cys417=)
c.847T= (p.Cys283=)
c.1096T= (p.Cys366=)
c.1306T= (p.Cys436=)
c.952T= (p.Cys318=)
c.*1241T= (n.*1241T=)
c.1225T= (p.Cys409=)
c.1246T= (p.Cys416=)
c.1453T= (p.Cys485=)
c.1228T= (p.Cys410=)
c.1450T= (p.Cys484=)
c.1321+430T= (n.1321+430T=)
c.1300T= (p.Cys434=)
c.1093T= (p.Cys365=)
c.880T= (p.Cys294=)
n.1118T=
Xg.154564451G>ACA219219IKBKGc.1214G>A (p.Cys405Tyr)
c.1250G>A (p.Cys417Tyr)
c.848G>A (p.Cys283Tyr)
c.1097G>A (p.Cys366Tyr)
c.1307G>A (p.Cys436Tyr)
c.953G>A (p.Cys318Tyr)
c.*1242G>A (n.*1242G>A)
c.1226G>A (p.Cys409Tyr)
c.1247G>A (p.Cys416Tyr)
c.1454G>A (p.Cys485Tyr)
c.1229G>A (p.Cys410Tyr)
c.1451G>A (p.Cys484Tyr)
c.1321+431G>A (n.1321+431G>A)
c.1301G>A (p.Cys434Tyr)
c.1094G>A (p.Cys365Tyr)
c.881G>A (p.Cys294Tyr)
n.1119G>A
 ClinVar dbSNP
Xg.154564451G>CCA415220460IKBKGc.1214G>C (p.Cys405Ser)
c.1250G>C (p.Cys417Ser)
c.848G>C (p.Cys283Ser)
c.1097G>C (p.Cys366Ser)
c.1307G>C (p.Cys436Ser)
c.953G>C (p.Cys318Ser)
c.*1242G>C (n.*1242G>C)
c.1226G>C (p.Cys409Ser)
c.1247G>C (p.Cys416Ser)
c.1454G>C (p.Cys485Ser)
c.1229G>C (p.Cys410Ser)
c.1451G>C (p.Cys484Ser)
c.1321+431G>C (n.1321+431G>C)
c.1301G>C (p.Cys434Ser)
c.1094G>C (p.Cys365Ser)
c.881G>C (p.Cys294Ser)
n.1119G>C
Xg.154564451G=CA2466734068IKBKGc.1214G= (p.Cys405=)
c.1250G= (p.Cys417=)
c.848G= (p.Cys283=)
c.1097G= (p.Cys366=)
c.1307G= (p.Cys436=)
c.953G= (p.Cys318=)
c.*1242G= (n.*1242G=)
c.1226G= (p.Cys409=)
c.1247G= (p.Cys416=)
c.1454G= (p.Cys485=)
c.1229G= (p.Cys410=)
c.1451G= (p.Cys484=)
c.1321+431G= (n.1321+431G=)
c.1301G= (p.Cys434=)
c.1094G= (p.Cys365=)
c.881G= (p.Cys294=)
n.1119G=
Xg.154564451G>TCA121476IKBKGc.1214G>T (p.Cys405Phe)
c.1250G>T (p.Cys417Phe)
c.848G>T (p.Cys283Phe)
c.1097G>T (p.Cys366Phe)
c.1307G>T (p.Cys436Phe)
c.953G>T (p.Cys318Phe)
c.*1242G>T (n.*1242G>T)
c.1226G>T (p.Cys409Phe)
c.1247G>T (p.Cys416Phe)
c.1454G>T (p.Cys485Phe)
c.1229G>T (p.Cys410Phe)
c.1451G>T (p.Cys484Phe)
c.1321+431G>T (n.1321+431G>T)
c.1301G>T (p.Cys434Phe)
c.1094G>T (p.Cys365Phe)
c.881G>T (p.Cys294Phe)
n.1119G>T
 ClinVar dbSNP
Xg.154564452C>ACA415220470IKBKGc.1215C>A (p.Cys405Ter)
c.1251C>A (p.Cys417Ter)
c.849C>A (p.Cys283Ter)
c.1098C>A (p.Cys366Ter)
c.1308C>A (p.Cys436Ter)
c.954C>A (p.Cys318Ter)
c.*1243C>A (n.*1243C>A)
c.1227C>A (p.Cys409Ter)
c.1248C>A (p.Cys416Ter)
c.1455C>A (p.Cys485Ter)
c.1230C>A (p.Cys410Ter)
c.1452C>A (p.Cys484Ter)
c.1321+432C>A (n.1321+432C>A)
c.1302C>A (p.Cys434Ter)
c.1095C>A (p.Cys365Ter)
c.882C>A (p.Cys294Ter)
n.1120C>A
Xg.154564452C>GCA415220471IKBKGc.1215C>G (p.Cys405Trp)
c.1251C>G (p.Cys417Trp)
c.849C>G (p.Cys283Trp)
c.1098C>G (p.Cys366Trp)
c.1308C>G (p.Cys436Trp)
c.954C>G (p.Cys318Trp)
c.*1243C>G (n.*1243C>G)
c.1227C>G (p.Cys409Trp)
c.1248C>G (p.Cys416Trp)
c.1455C>G (p.Cys485Trp)
c.1230C>G (p.Cys410Trp)
c.1452C>G (p.Cys484Trp)
c.1321+432C>G (n.1321+432C>G)
c.1302C>G (p.Cys434Trp)
c.1095C>G (p.Cys365Trp)
c.882C>G (p.Cys294Trp)
n.1120C>G
Xg.154564452C>TCA519287254IKBKGc.1215C>T (p.Cys405=)
c.1251C>T (p.Cys417=)
c.849C>T (p.Cys283=)
c.1098C>T (p.Cys366=)
c.1308C>T (p.Cys436=)
c.954C>T (p.Cys318=)
c.*1243C>T (n.*1243C>T)
c.1227C>T (p.Cys409=)
c.1248C>T (p.Cys416=)
c.1455C>T (p.Cys485=)
c.1230C>T (p.Cys410=)
c.1452C>T (p.Cys484=)
c.1321+432C>T (n.1321+432C>T)
c.1302C>T (p.Cys434=)
c.1095C>T (p.Cys365=)
c.882C>T (p.Cys294=)
n.1120C>T
Xg.154564453A>CCA415220475IKBKGc.1216A>C (p.Ile406Leu)
c.1252A>C (p.Ile418Leu)
c.850A>C (p.Ile284Leu)
c.1099A>C (p.Ile367Leu)
c.1309A>C (p.Ile437Leu)
c.955A>C (p.Ile319Leu)
c.*1244A>C (n.*1244A>C)
c.1228A>C (p.Ile410Leu)
c.1249A>C (p.Ile417Leu)
c.1456A>C (p.Ile486Leu)
c.1231A>C (p.Ile411Leu)
c.1453A>C (p.Ile485Leu)
c.1321+433A>C (n.1321+433A>C)
c.1303A>C (p.Ile435Leu)
c.1096A>C (p.Ile366Leu)
c.883A>C (p.Ile295Leu)
n.1121A>C
Xg.154564453A>GCA415220476IKBKGc.1216A>G (p.Ile406Val)
c.1252A>G (p.Ile418Val)
c.850A>G (p.Ile284Val)
c.1099A>G (p.Ile367Val)
c.1309A>G (p.Ile437Val)
c.955A>G (p.Ile319Val)
c.*1244A>G (n.*1244A>G)
c.1228A>G (p.Ile410Val)
c.1249A>G (p.Ile417Val)
c.1456A>G (p.Ile486Val)
c.1231A>G (p.Ile411Val)
c.1453A>G (p.Ile485Val)
c.1321+433A>G (n.1321+433A>G)
c.1303A>G (p.Ile435Val)
c.1096A>G (p.Ile366Val)
c.883A>G (p.Ile295Val)
n.1121A>G
Xg.154564453A>TCA415220480IKBKGc.1216A>T (p.Ile406Phe)
c.1252A>T (p.Ile418Phe)
c.850A>T (p.Ile284Phe)
c.1099A>T (p.Ile367Phe)
c.1309A>T (p.Ile437Phe)
c.955A>T (p.Ile319Phe)
c.*1244A>T (n.*1244A>T)
c.1228A>T (p.Ile410Phe)
c.1249A>T (p.Ile417Phe)
c.1456A>T (p.Ile486Phe)
c.1231A>T (p.Ile411Phe)
c.1453A>T (p.Ile485Phe)
c.1321+433A>T (n.1321+433A>T)
c.1303A>T (p.Ile435Phe)
c.1096A>T (p.Ile366Phe)
c.883A>T (p.Ile295Phe)
n.1121A>T
Xg.154564454T>ACA415220486IKBKGc.1217T>A (p.Ile406Asn)
c.1253T>A (p.Ile418Asn)
c.851T>A (p.Ile284Asn)
c.1100T>A (p.Ile367Asn)
c.1310T>A (p.Ile437Asn)
c.956T>A (p.Ile319Asn)
c.*1245T>A (n.*1245T>A)
c.1229T>A (p.Ile410Asn)
c.1250T>A (p.Ile417Asn)
c.1457T>A (p.Ile486Asn)
c.1232T>A (p.Ile411Asn)
c.1454T>A (p.Ile485Asn)
c.1321+434T>A (n.1321+434T>A)
c.1304T>A (p.Ile435Asn)
c.1097T>A (p.Ile366Asn)
c.884T>A (p.Ile295Asn)
n.1122T>A
Xg.154564454T>CCA415220489IKBKGc.1217T>C (p.Ile406Thr)
c.1253T>C (p.Ile418Thr)
c.851T>C (p.Ile284Thr)
c.1100T>C (p.Ile367Thr)
c.1310T>C (p.Ile437Thr)
c.956T>C (p.Ile319Thr)
c.*1245T>C (n.*1245T>C)
c.1229T>C (p.Ile410Thr)
c.1250T>C (p.Ile417Thr)
c.1457T>C (p.Ile486Thr)
c.1232T>C (p.Ile411Thr)
c.1454T>C (p.Ile485Thr)
c.1321+434T>C (n.1321+434T>C)
c.1304T>C (p.Ile435Thr)
c.1097T>C (p.Ile366Thr)
c.884T>C (p.Ile295Thr)
n.1122T>C
Xg.154564454T>GCA415220491IKBKGc.1217T>G (p.Ile406Ser)
c.1253T>G (p.Ile418Ser)
c.851T>G (p.Ile284Ser)
c.1100T>G (p.Ile367Ser)
c.1310T>G (p.Ile437Ser)
c.956T>G (p.Ile319Ser)
c.*1245T>G (n.*1245T>G)
c.1229T>G (p.Ile410Ser)
c.1250T>G (p.Ile417Ser)
c.1457T>G (p.Ile486Ser)
c.1232T>G (p.Ile411Ser)
c.1454T>G (p.Ile485Ser)
c.1321+434T>G (n.1321+434T>G)
c.1304T>G (p.Ile435Ser)
c.1097T>G (p.Ile366Ser)
c.884T>G (p.Ile295Ser)
n.1122T>G
Xg.154564455T>ACA519287255IKBKGc.1218T>A (p.Ile406=)
c.1254T>A (p.Ile418=)
c.852T>A (p.Ile284=)
c.1101T>A (p.Ile367=)
c.1311T>A (p.Ile437=)
c.957T>A (p.Ile319=)
c.*1246T>A (n.*1246T>A)
c.1230T>A (p.Ile410=)
c.1251T>A (p.Ile417=)
c.1458T>A (p.Ile486=)
c.1233T>A (p.Ile411=)
c.1455T>A (p.Ile485=)
c.1321+435T>A (n.1321+435T>A)
c.1305T>A (p.Ile435=)
c.1098T>A (p.Ile366=)
c.885T>A (p.Ile295=)
n.1123T>A
Xg.154564455T>CCA519287256IKBKGc.1218T>C (p.Ile406=)
c.1254T>C (p.Ile418=)
c.852T>C (p.Ile284=)
c.1101T>C (p.Ile367=)
c.1311T>C (p.Ile437=)
c.957T>C (p.Ile319=)
c.*1246T>C (n.*1246T>C)
c.1230T>C (p.Ile410=)
c.1251T>C (p.Ile417=)
c.1458T>C (p.Ile486=)
c.1233T>C (p.Ile411=)
c.1455T>C (p.Ile485=)
c.1321+435T>C (n.1321+435T>C)
c.1305T>C (p.Ile435=)
c.1098T>C (p.Ile366=)
c.885T>C (p.Ile295=)
n.1123T>C
Xg.154564455T>GCA415220496IKBKGc.1218T>G (p.Ile406Met)
c.1254T>G (p.Ile418Met)
c.852T>G (p.Ile284Met)
c.1101T>G (p.Ile367Met)
c.1311T>G (p.Ile437Met)
c.957T>G (p.Ile319Met)
c.*1246T>G (n.*1246T>G)
c.1230T>G (p.Ile410Met)
c.1251T>G (p.Ile417Met)
c.1458T>G (p.Ile486Met)
c.1233T>G (p.Ile411Met)
c.1455T>G (p.Ile485Met)
c.1321+435T>G (n.1321+435T>G)
c.1305T>G (p.Ile435Met)
c.1098T>G (p.Ile366Met)
c.885T>G (p.Ile295Met)
n.1123T>G
Xg.154564456G>ACA415220502IKBKGc.1219G>A (p.Glu407Lys)
c.1255G>A (p.Glu419Lys)
c.853G>A (p.Glu285Lys)
c.1102G>A (p.Glu368Lys)
c.1312G>A (p.Glu438Lys)
c.958G>A (p.Glu320Lys)
c.*1247G>A (n.*1247G>A)
c.1231G>A (p.Glu411Lys)
c.1252G>A (p.Glu418Lys)
c.1459G>A (p.Glu487Lys)
c.1234G>A (p.Glu412Lys)
c.1456G>A (p.Glu486Lys)
c.1321+436G>A (n.1321+436G>A)
c.1306G>A (p.Glu436Lys)
c.1099G>A (p.Glu367Lys)
c.886G>A (p.Glu296Lys)
n.1124G>A
Xg.154564456G>CCA415220506IKBKGc.1219G>C (p.Glu407Gln)
c.1255G>C (p.Glu419Gln)
c.853G>C (p.Glu285Gln)
c.1102G>C (p.Glu368Gln)
c.1312G>C (p.Glu438Gln)
c.958G>C (p.Glu320Gln)
c.*1247G>C (n.*1247G>C)
c.1231G>C (p.Glu411Gln)
c.1252G>C (p.Glu418Gln)
c.1459G>C (p.Glu487Gln)
c.1234G>C (p.Glu412Gln)
c.1456G>C (p.Glu486Gln)
c.1321+436G>C (n.1321+436G>C)
c.1306G>C (p.Glu436Gln)
c.1099G>C (p.Glu367Gln)
c.886G>C (p.Glu296Gln)
n.1124G>C
Xg.154564456G>TCA415220509IKBKGc.1219G>T (p.Glu407Ter)
c.1255G>T (p.Glu419Ter)
c.853G>T (p.Glu285Ter)
c.1102G>T (p.Glu368Ter)
c.1312G>T (p.Glu438Ter)
c.958G>T (p.Glu320Ter)
c.*1247G>T (n.*1247G>T)
c.1231G>T (p.Glu411Ter)
c.1252G>T (p.Glu418Ter)
c.1459G>T (p.Glu487Ter)
c.1234G>T (p.Glu412Ter)
c.1456G>T (p.Glu486Ter)
c.1321+436G>T (n.1321+436G>T)
c.1306G>T (p.Glu436Ter)
c.1099G>T (p.Glu367Ter)
c.886G>T (p.Glu296Ter)
n.1124G>T
Xg.154564457A>CCA415220524IKBKGc.1220A>C (p.Glu407Ala)
c.1256A>C (p.Glu419Ala)
c.854A>C (p.Glu285Ala)
c.1103A>C (p.Glu368Ala)
c.1313A>C (p.Glu438Ala)
c.959A>C (p.Glu320Ala)
c.*1248A>C (n.*1248A>C)
c.1232A>C (p.Glu411Ala)
c.1253A>C (p.Glu418Ala)
c.1460A>C (p.Glu487Ala)
c.1235A>C (p.Glu412Ala)
c.1457A>C (p.Glu486Ala)
c.1321+437A>C (n.1321+437A>C)
c.1307A>C (p.Glu436Ala)
c.1100A>C (p.Glu367Ala)
c.887A>C (p.Glu296Ala)
n.1125A>C
Xg.154564457A>GCA415220529IKBKGc.1220A>G (p.Glu407Gly)
c.1256A>G (p.Glu419Gly)
c.854A>G (p.Glu285Gly)
c.1103A>G (p.Glu368Gly)
c.1313A>G (p.Glu438Gly)
c.959A>G (p.Glu320Gly)
c.*1248A>G (n.*1248A>G)
c.1232A>G (p.Glu411Gly)
c.1253A>G (p.Glu418Gly)
c.1460A>G (p.Glu487Gly)
c.1235A>G (p.Glu412Gly)
c.1457A>G (p.Glu486Gly)
c.1321+437A>G (n.1321+437A>G)
c.1307A>G (p.Glu436Gly)
c.1100A>G (p.Glu367Gly)
c.887A>G (p.Glu296Gly)
n.1125A>G
Xg.154564457A>TCA415220535IKBKGc.1220A>T (p.Glu407Val)
c.1256A>T (p.Glu419Val)
c.854A>T (p.Glu285Val)
c.1103A>T (p.Glu368Val)
c.1313A>T (p.Glu438Val)
c.959A>T (p.Glu320Val)
c.*1248A>T (n.*1248A>T)
c.1232A>T (p.Glu411Val)
c.1253A>T (p.Glu418Val)
c.1460A>T (p.Glu487Val)
c.1235A>T (p.Glu412Val)
c.1457A>T (p.Glu486Val)
c.1321+437A>T (n.1321+437A>T)
c.1307A>T (p.Glu436Val)
c.1100A>T (p.Glu367Val)
c.887A>T (p.Glu296Val)
n.1125A>T
Xg.154564458G>ACA519287257IKBKGc.1221G>A (p.Glu407=)
c.1257G>A (p.Glu419=)
c.855G>A (p.Glu285=)
c.1104G>A (p.Glu368=)
c.1314G>A (p.Glu438=)
c.960G>A (p.Glu320=)
c.*1249G>A (n.*1249G>A)
c.1233G>A (p.Glu411=)
c.1254G>A (p.Glu418=)
c.1461G>A (p.Glu487=)
c.1236G>A (p.Glu412=)
c.1458G>A (p.Glu486=)
c.1321+438G>A (n.1321+438G>A)
c.1308G>A (p.Glu436=)
c.1101G>A (p.Glu367=)
c.888G>A (p.Glu296=)
n.1126G>A
Xg.154564458G>CCA415220543IKBKGc.1221G>C (p.Glu407Asp)
c.1257G>C (p.Glu419Asp)
c.855G>C (p.Glu285Asp)
c.1104G>C (p.Glu368Asp)
c.1314G>C (p.Glu438Asp)
c.960G>C (p.Glu320Asp)
c.*1249G>C (n.*1249G>C)
c.1233G>C (p.Glu411Asp)
c.1254G>C (p.Glu418Asp)
c.1461G>C (p.Glu487Asp)
c.1236G>C (p.Glu412Asp)
c.1458G>C (p.Glu486Asp)
c.1321+438G>C (n.1321+438G>C)
c.1308G>C (p.Glu436Asp)
c.1101G>C (p.Glu367Asp)
c.888G>C (p.Glu296Asp)
n.1126G>C
Xg.154564458G>TCA415220544IKBKGc.1221G>T (p.Glu407Asp)
c.1257G>T (p.Glu419Asp)
c.855G>T (p.Glu285Asp)
c.1104G>T (p.Glu368Asp)
c.1314G>T (p.Glu438Asp)
c.960G>T (p.Glu320Asp)
c.*1249G>T (n.*1249G>T)
c.1233G>T (p.Glu411Asp)
c.1254G>T (p.Glu418Asp)
c.1461G>T (p.Glu487Asp)
c.1236G>T (p.Glu412Asp)
c.1458G>T (p.Glu486Asp)
c.1321+438G>T (n.1321+438G>T)
c.1308G>T (p.Glu436Asp)
c.1101G>T (p.Glu367Asp)
c.888G>T (p.Glu296Asp)
n.1126G>T
Xg.154564459T>ACA415220546IKBKGc.1222T>A (p.Ter408Lys)
c.1258T>A (p.Ter420Lys)
c.856T>A (p.Ter286Lys)
c.1105T>A (p.Ter369Lys)
c.1315T>A (p.Ter439Lys)
c.961T>A (p.Ter321Lys)
c.*1250T>A (n.*1250T>A)
c.1234T>A (p.Ter412Lys)
c.1255T>A (p.Ter419Lys)
c.1462T>A (p.Ter488Lys)
c.1237T>A (p.Ter413Lys)
c.1459T>A (p.Ter487Lys)
c.1321+439T>A (n.1321+439T>A)
c.1309T>A (p.Ter437Lys)
c.1102T>A (p.Ter368Lys)
c.889T>A (p.Ter297Lys)
n.1127T>A
Xg.154564459T>CCA16621264IKBKGc.1222T>C (p.Ter408Gln)
c.1258T>C (p.Ter420Gln)
c.856T>C (p.Ter286Gln)
c.1105T>C (p.Ter369Gln)
c.1315T>C (p.Ter439Gln)
c.961T>C (p.Ter321Gln)
c.*1250T>C (n.*1250T>C)
c.1234T>C (p.Ter412Gln)
c.1255T>C (p.Ter419Gln)
c.1462T>C (p.Ter488Gln)
c.1237T>C (p.Ter413Gln)
c.1459T>C (p.Ter487Gln)
c.1321+439T>C (n.1321+439T>C)
c.1309T>C (p.Ter437Gln)
c.1102T>C (p.Ter368Gln)
c.889T>C (p.Ter297Gln)
n.1127T>C
 ClinVar dbSNP
Xg.154564459T>GCA415220564IKBKGc.1222T>G (p.Ter408Glu)
c.1258T>G (p.Ter420Glu)
c.856T>G (p.Ter286Glu)
c.1105T>G (p.Ter369Glu)
c.1315T>G (p.Ter439Glu)
c.961T>G (p.Ter321Glu)
c.*1250T>G (n.*1250T>G)
c.1234T>G (p.Ter412Glu)
c.1255T>G (p.Ter419Glu)
c.1462T>G (p.Ter488Glu)
c.1237T>G (p.Ter413Glu)
c.1459T>G (p.Ter487Glu)
c.1321+439T>G (n.1321+439T>G)
c.1309T>G (p.Ter437Glu)
c.1102T>G (p.Ter368Glu)
c.889T>G (p.Ter297Glu)
n.1127T>G
Xg.154564459T=CA2466734069IKBKGc.1222T= (p.Ter408=)
c.1258T= (p.Ter420=)
c.856T= (p.Ter286=)
c.1105T= (p.Ter369=)
c.1315T= (p.Ter439=)
c.961T= (p.Ter321=)
c.*1250T= (n.*1250T=)
c.1234T= (p.Ter412=)
c.1255T= (p.Ter419=)
c.1462T= (p.Ter488=)
c.1237T= (p.Ter413=)
c.1459T= (p.Ter487=)
c.1321+439T= (n.1321+439T=)
c.1309T= (p.Ter437=)
c.1102T= (p.Ter368=)
c.889T= (p.Ter297=)
n.1127T=
Xg.154564460A=CA2466734070IKBKGc.1223A= (p.Ter408=)
c.1259A= (p.Ter420=)
c.857A= (p.Ter286=)
c.1106A= (p.Ter369=)
c.1316A= (p.Ter439=)
c.962A= (p.Ter321=)
c.*1251A= (n.*1251A=)
c.1235A= (p.Ter412=)
c.1256A= (p.Ter419=)
c.1463A= (p.Ter488=)
c.1238A= (p.Ter413=)
c.1460A= (p.Ter487=)
c.1321+440A= (n.1321+440A=)
c.1310A= (p.Ter437=)
c.1103A= (p.Ter368=)
c.890A= (p.Ter297=)
n.1128A=
Xg.154564460A>CCA415220595IKBKGc.1223A>C (p.Ter408Ser)
c.1259A>C (p.Ter420Ser)
c.857A>C (p.Ter286Ser)
c.1106A>C (p.Ter369Ser)
c.1316A>C (p.Ter439Ser)
c.962A>C (p.Ter321Ser)
c.*1251A>C (n.*1251A>C)
c.1235A>C (p.Ter412Ser)
c.1256A>C (p.Ter419Ser)
c.1463A>C (p.Ter488Ser)
c.1238A>C (p.Ter413Ser)
c.1460A>C (p.Ter487Ser)
c.1321+440A>C (n.1321+440A>C)
c.1310A>C (p.Ter437Ser)
c.1103A>C (p.Ter368Ser)
c.890A>C (p.Ter297Ser)
n.1128A>C
Xg.154564460A>GCA121467IKBKGc.1223A>G (p.Ter408Trp)
c.1259A>G (p.Ter420Trp)
c.857A>G (p.Ter286Trp)
c.1106A>G (p.Ter369Trp)
c.1316A>G (p.Ter439Trp)
c.962A>G (p.Ter321Trp)
c.*1251A>G (n.*1251A>G)
c.1235A>G (p.Ter412Trp)
c.1256A>G (p.Ter419Trp)
c.1463A>G (p.Ter488Trp)
c.1238A>G (p.Ter413Trp)
c.1460A>G (p.Ter487Trp)
c.1321+440A>G (n.1321+440A>G)
c.1310A>G (p.Ter437Trp)
c.1103A>G (p.Ter368Trp)
c.890A>G (p.Ter297Trp)
n.1128A>G
 ClinVar dbSNP
Xg.154564460A>TCA415220598IKBKGc.1223A>T (p.Ter408Leu)
c.1259A>T (p.Ter420Leu)
c.857A>T (p.Ter286Leu)
c.1106A>T (p.Ter369Leu)
c.1316A>T (p.Ter439Leu)
c.962A>T (p.Ter321Leu)
c.*1251A>T (n.*1251A>T)
c.1235A>T (p.Ter412Leu)
c.1256A>T (p.Ter419Leu)
c.1463A>T (p.Ter488Leu)
c.1238A>T (p.Ter413Leu)
c.1460A>T (p.Ter487Leu)
c.1321+440A>T (n.1321+440A>T)
c.1310A>T (p.Ter437Leu)
c.1103A>T (p.Ter368Leu)
c.890A>T (p.Ter297Leu)
n.1128A>T
Xg.154564461G>ACA519287258IKBKGc.1224G>A (p.Ter408=)
c.1260G>A (p.Ter420=)
c.858G>A (p.Ter286=)
c.1107G>A (p.Ter369=)
c.1317G>A (p.Ter439=)
c.963G>A (p.Ter321=)
c.*1252G>A (n.*1252G>A)
c.1236G>A (p.Ter412=)
c.1257G>A (p.Ter419=)
c.1464G>A (p.Ter488=)
c.1239G>A (p.Ter413=)
c.1461G>A (p.Ter487=)
c.1321+441G>A (n.1321+441G>A)
c.1311G>A (p.Ter437=)
c.1104G>A (p.Ter368=)
c.891G>A (p.Ter297=)
n.1129G>A
Xg.154564461G>CCA415220602IKBKGc.1224G>C (p.Ter408Tyr)
c.1260G>C (p.Ter420Tyr)
c.858G>C (p.Ter286Tyr)
c.1107G>C (p.Ter369Tyr)
c.1317G>C (p.Ter439Tyr)
c.963G>C (p.Ter321Tyr)
c.*1252G>C (n.*1252G>C)
c.1236G>C (p.Ter412Tyr)
c.1257G>C (p.Ter419Tyr)
c.1464G>C (p.Ter488Tyr)
c.1239G>C (p.Ter413Tyr)
c.1461G>C (p.Ter487Tyr)
c.1321+441G>C (n.1321+441G>C)
c.1311G>C (p.Ter437Tyr)
c.1104G>C (p.Ter368Tyr)
c.891G>C (p.Ter297Tyr)
n.1129G>C
 ClinVar dbSNP gnomAD v2
Xg.154564461G=CA2466734071IKBKGc.1224G= (p.Ter408=)
c.1260G= (p.Ter420=)
c.858G= (p.Ter286=)
c.1107G= (p.Ter369=)
c.1317G= (p.Ter439=)
c.963G= (p.Ter321=)
c.*1252G= (n.*1252G=)
c.1236G= (p.Ter412=)
c.1257G= (p.Ter419=)
c.1464G= (p.Ter488=)
c.1239G= (p.Ter413=)
c.1461G= (p.Ter487=)
c.1321+441G= (n.1321+441G=)
c.1311G= (p.Ter437=)
c.1104G= (p.Ter368=)
c.891G= (p.Ter297=)
n.1129G=
Xg.154564461G>TCA415220606IKBKGc.1224G>T (p.Ter408Tyr)
c.1260G>T (p.Ter420Tyr)
c.858G>T (p.Ter286Tyr)
c.1107G>T (p.Ter369Tyr)
c.1317G>T (p.Ter439Tyr)
c.963G>T (p.Ter321Tyr)
c.*1252G>T (n.*1252G>T)
c.1236G>T (p.Ter412Tyr)
c.1257G>T (p.Ter419Tyr)
c.1464G>T (p.Ter488Tyr)
c.1239G>T (p.Ter413Tyr)
c.1461G>T (p.Ter487Tyr)
c.1321+441G>T (n.1321+441G>T)
c.1311G>T (p.Ter437Tyr)
c.1104G>T (p.Ter368Tyr)
c.891G>T (p.Ter297Tyr)
n.1129G>T
Xg.154564465C=CA2466734072IKBKGc.*4C= (n.*4C=)
c.*1256C= (n.*1256C=)
c.1321+445C= (n.1321+445C=)
n.1133C=
Xg.154564465C>TCA10566457IKBKGc.*4C>T (n.*4C>T)
c.*1256C>T (n.*1256C>T)
c.1321+445C>T (n.1321+445C>T)
n.1133C>T
 dbSNP ExAC gnomAD v2
Xg.154564466G>ACA10566458IKBKGc.*5G>A (n.*5G>A)
c.*1257G>A (n.*1257G>A)
c.1321+446G>A (n.1321+446G>A)
n.1134G>A
 dbSNP ExAC gnomAD v2
Xg.154564466G=CA2466734073IKBKGc.*5G= (n.*5G=)
c.*1257G= (n.*1257G=)
c.1321+446G= (n.1321+446G=)
n.1134G=
Xg.154564470A=CA2466734074IKBKGc.*9A= (n.*9A=)
c.*1261A= (n.*1261A=)
c.1321+450A= (n.1321+450A=)
n.1138A=
Xg.154564470A>CCA2824303934IKBKGc.*9A>C (n.*9A>C)
c.*1261A>C (n.*1261A>C)
c.1321+450A>C (n.1321+450A>C)
n.1138A>C
Xg.154564470A>GCA645181830IKBKGc.*9A>G (n.*9A>G)
c.*1261A>G (n.*1261A>G)
c.1321+450A>G (n.1321+450A>G)
n.1138A>G
 dbSNP gnomAD v2
Xg.154564481A=CA2466734075IKBKGc.*20A= (n.*20A=)
c.*1272A= (n.*1272A=)
c.1321+461A= (n.1321+461A=)
n.1149A=
Xg.154564481A>GCA645181831IKBKGc.*20A>G (n.*20A>G)
c.*1272A>G (n.*1272A>G)
c.1321+461A>G (n.1321+461A>G)
n.1149A>G
 dbSNP gnomAD v2
Xg.154564482C=CA2466734076IKBKGc.*21C= (n.*21C=)
c.*1273C= (n.*1273C=)
c.1321+462C= (n.1321+462C=)
n.1150C=
Xg.154564482C>TCA10566459IKBKGc.*21C>T (n.*21C>T)
c.*1273C>T (n.*1273C>T)
c.1321+462C>T (n.1321+462C>T)
n.1150C>T
 dbSNP ExAC gnomAD v2
Xg.154564490C>ACA2466734078IKBKGc.*29C>A (n.*29C>A)
c.*1281C>A (n.*1281C>A)
c.1321+470C>A (n.1321+470C>A)
n.1158C>A
 dbSNP
Xg.154564490C=CA2466734077IKBKGc.*29C= (n.*29C=)
c.*1281C= (n.*1281C=)
c.1321+470C= (n.1321+470C=)
n.1158C=
Xg.154564491G>ACA645181832IKBKGc.*30G>A (n.*30G>A)
c.*1282G>A (n.*1282G>A)
c.1321+471G>A (n.1321+471G>A)
n.1159G>A
 dbSNP gnomAD v2
Xg.154564491G=CA2466734079IKBKGc.*30G= (n.*30G=)
c.*1282G= (n.*1282G=)
c.1321+471G= (n.1321+471G=)
n.1159G=
Xg.154564494G>CCA645181833IKBKGc.*33G>C (n.*33G>C)
c.*1285G>C (n.*1285G>C)
c.1321+474G>C (n.1321+474G>C)
n.1162G>C
 dbSNP gnomAD v2
Xg.154564494G=CA2466734080IKBKGc.*33G= (n.*33G=)
c.*1285G= (n.*1285G=)
c.1321+474G= (n.1321+474G=)
n.1162G=
Xg.154564496C=CA2466734081IKBKGc.*35C= (n.*35C=)
c.*1287C= (n.*1287C=)
c.1321+476C= (n.1321+476C=)
n.1164C=
Xg.154564496C>TCA645181834IKBKGc.*35C>T (n.*35C>T)
c.*1287C>T (n.*1287C>T)
c.1321+476C>T (n.1321+476C>T)
n.1164C>T
 dbSNP gnomAD v2
Xg.154564497G>ACA645181835IKBKGc.*36G>A (n.*36G>A)
c.*1288G>A (n.*1288G>A)
c.1321+477G>A (n.1321+477G>A)
n.1165G>A
 dbSNP gnomAD v2
Xg.154564497G=CA2466734082IKBKGc.*36G= (n.*36G=)
c.*1288G= (n.*1288G=)
c.1321+477G= (n.1321+477G=)
n.1165G=
Xg.154564499G=CA2466734083IKBKGc.*38G= (n.*38G=)
c.*1290G= (n.*1290G=)
c.1321+479G= (n.1321+479G=)
n.1167G=
Xg.154564499G>TCA2466734084IKBKGc.*38G>T (n.*38G>T)
c.*1290G>T (n.*1290G>T)
c.1321+479G>T (n.1321+479G>T)
n.1167G>T
 dbSNP

Number of alleles fetched