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.154564318G>ACA415218982IKBKGc.1082-1G>A (n.1082-1G>A)
c.1118-1G>A (n.1118-1G>A)
c.716-1G>A (n.716-1G>A)
c.965-1G>A (n.965-1G>A)
c.1175-1G>A (n.1175-1G>A)
c.821-1G>A (n.821-1G>A)
c.*1110-1G>A (n.*1110-1G>A)
c.1094-1G>A (n.1094-1G>A)
c.1115-1G>A (n.1115-1G>A)
c.1322-1G>A (n.1322-1G>A)
c.1097-1G>A (n.1097-1G>A)
c.1319-1G>A (n.1319-1G>A)
c.1321+298G>A (n.1321+298G>A)
c.1169-1G>A (n.1169-1G>A)
c.962-1G>A (n.962-1G>A)
c.749-1G>A (n.749-1G>A)
n.987-1G>A
Xg.154564318G>CCA415218990IKBKGc.1082-1G>C (n.1082-1G>C)
c.1118-1G>C (n.1118-1G>C)
c.716-1G>C (n.716-1G>C)
c.965-1G>C (n.965-1G>C)
c.1175-1G>C (n.1175-1G>C)
c.821-1G>C (n.821-1G>C)
c.*1110-1G>C (n.*1110-1G>C)
c.1094-1G>C (n.1094-1G>C)
c.1115-1G>C (n.1115-1G>C)
c.1322-1G>C (n.1322-1G>C)
c.1097-1G>C (n.1097-1G>C)
c.1319-1G>C (n.1319-1G>C)
c.1321+298G>C (n.1321+298G>C)
c.1169-1G>C (n.1169-1G>C)
c.962-1G>C (n.962-1G>C)
c.749-1G>C (n.749-1G>C)
n.987-1G>C
Xg.154564318G>TCA415218992IKBKGc.1082-1G>T (n.1082-1G>T)
c.1118-1G>T (n.1118-1G>T)
c.716-1G>T (n.716-1G>T)
c.965-1G>T (n.965-1G>T)
c.1175-1G>T (n.1175-1G>T)
c.821-1G>T (n.821-1G>T)
c.*1110-1G>T (n.*1110-1G>T)
c.1094-1G>T (n.1094-1G>T)
c.1115-1G>T (n.1115-1G>T)
c.1322-1G>T (n.1322-1G>T)
c.1097-1G>T (n.1097-1G>T)
c.1319-1G>T (n.1319-1G>T)
c.1321+298G>T (n.1321+298G>T)
c.1169-1G>T (n.1169-1G>T)
c.962-1G>T (n.962-1G>T)
c.749-1G>T (n.749-1G>T)
n.987-1G>T
Xg.154564319C>ACA415218994IKBKGc.1082C>A (p.Ala361Asp)
c.1118C>A (p.Ala373Asp)
c.716C>A (p.Ala239Asp)
c.965C>A (p.Ala322Asp)
c.1175C>A (p.Ala392Asp)
c.821C>A (p.Ala274Asp)
c.*1110C>A (n.*1110C>A)
c.1094C>A (p.Ala365Asp)
c.1115C>A (p.Ala372Asp)
c.1322C>A (p.Ala441Asp)
c.1097C>A (p.Ala366Asp)
c.1319C>A (p.Ala440Asp)
c.1321+299C>A (n.1321+299C>A)
c.1169C>A (p.Ala390Asp)
c.962C>A (p.Ala321Asp)
c.749C>A (p.Ala250Asp)
n.987C>A
Xg.154564319C>GCA415218996IKBKGc.1082C>G (p.Ala361Gly)
c.1118C>G (p.Ala373Gly)
c.716C>G (p.Ala239Gly)
c.965C>G (p.Ala322Gly)
c.1175C>G (p.Ala392Gly)
c.821C>G (p.Ala274Gly)
c.*1110C>G (n.*1110C>G)
c.1094C>G (p.Ala365Gly)
c.1115C>G (p.Ala372Gly)
c.1322C>G (p.Ala441Gly)
c.1097C>G (p.Ala366Gly)
c.1319C>G (p.Ala440Gly)
c.1321+299C>G (n.1321+299C>G)
c.1169C>G (p.Ala390Gly)
c.962C>G (p.Ala321Gly)
c.749C>G (p.Ala250Gly)
n.987C>G
Xg.154564319C>TCA415218999IKBKGc.1082C>T (p.Ala361Val)
c.1118C>T (p.Ala373Val)
c.716C>T (p.Ala239Val)
c.965C>T (p.Ala322Val)
c.1175C>T (p.Ala392Val)
c.821C>T (p.Ala274Val)
c.*1110C>T (n.*1110C>T)
c.1094C>T (p.Ala365Val)
c.1115C>T (p.Ala372Val)
c.1322C>T (p.Ala441Val)
c.1097C>T (p.Ala366Val)
c.1319C>T (p.Ala440Val)
c.1321+299C>T (n.1321+299C>T)
c.1169C>T (p.Ala390Val)
c.962C>T (p.Ala321Val)
c.749C>T (p.Ala250Val)
n.987C>T
Xg.154564320C>ACA519287087IKBKGc.1083C>A (p.Ala361=)
c.1119C>A (p.Ala373=)
c.717C>A (p.Ala239=)
c.966C>A (p.Ala322=)
c.1176C>A (p.Ala392=)
c.822C>A (p.Ala274=)
c.*1111C>A (n.*1111C>A)
c.1095C>A (p.Ala365=)
c.1116C>A (p.Ala372=)
c.1323C>A (p.Ala441=)
c.1098C>A (p.Ala366=)
c.1320C>A (p.Ala440=)
c.1321+300C>A (n.1321+300C>A)
c.1170C>A (p.Ala390=)
c.963C>A (p.Ala321=)
c.750C>A (p.Ala250=)
n.988C>A
Xg.154564320C>GCA519287088IKBKGc.1083C>G (p.Ala361=)
c.1119C>G (p.Ala373=)
c.717C>G (p.Ala239=)
c.966C>G (p.Ala322=)
c.1176C>G (p.Ala392=)
c.822C>G (p.Ala274=)
c.*1111C>G (n.*1111C>G)
c.1095C>G (p.Ala365=)
c.1116C>G (p.Ala372=)
c.1323C>G (p.Ala441=)
c.1098C>G (p.Ala366=)
c.1320C>G (p.Ala440=)
c.1321+300C>G (n.1321+300C>G)
c.1170C>G (p.Ala390=)
c.963C>G (p.Ala321=)
c.750C>G (p.Ala250=)
n.988C>G
Xg.154564320C>TCA519287090IKBKGc.1083C>T (p.Ala361=)
c.1119C>T (p.Ala373=)
c.717C>T (p.Ala239=)
c.966C>T (p.Ala322=)
c.1176C>T (p.Ala392=)
c.822C>T (p.Ala274=)
c.*1111C>T (n.*1111C>T)
c.1095C>T (p.Ala365=)
c.1116C>T (p.Ala372=)
c.1323C>T (p.Ala441=)
c.1098C>T (p.Ala366=)
c.1320C>T (p.Ala440=)
c.1321+300C>T (n.1321+300C>T)
c.1170C>T (p.Ala390=)
c.963C>T (p.Ala321=)
c.750C>T (p.Ala250=)
n.988C>T
Xg.154564321T>ACA415219010IKBKGc.1084T>A (p.Tyr362Asn)
c.1120T>A (p.Tyr374Asn)
c.718T>A (p.Tyr240Asn)
c.967T>A (p.Tyr323Asn)
c.1177T>A (p.Tyr393Asn)
c.823T>A (p.Tyr275Asn)
c.*1112T>A (n.*1112T>A)
c.1096T>A (p.Tyr366Asn)
c.1117T>A (p.Tyr373Asn)
c.1324T>A (p.Tyr442Asn)
c.1099T>A (p.Tyr367Asn)
c.1321T>A (p.Tyr441Asn)
c.1321+301T>A (n.1321+301T>A)
c.1171T>A (p.Tyr391Asn)
c.964T>A (p.Tyr322Asn)
c.751T>A (p.Tyr251Asn)
n.989T>A
Xg.154564321T>CCA415219009IKBKGc.1084T>C (p.Tyr362His)
c.1120T>C (p.Tyr374His)
c.718T>C (p.Tyr240His)
c.967T>C (p.Tyr323His)
c.1177T>C (p.Tyr393His)
c.823T>C (p.Tyr275His)
c.*1112T>C (n.*1112T>C)
c.1096T>C (p.Tyr366His)
c.1117T>C (p.Tyr373His)
c.1324T>C (p.Tyr442His)
c.1099T>C (p.Tyr367His)
c.1321T>C (p.Tyr441His)
c.1321+301T>C (n.1321+301T>C)
c.1171T>C (p.Tyr391His)
c.964T>C (p.Tyr322His)
c.751T>C (p.Tyr251His)
n.989T>C
Xg.154564321T>GCA415219006IKBKGc.1084T>G (p.Tyr362Asp)
c.1120T>G (p.Tyr374Asp)
c.718T>G (p.Tyr240Asp)
c.967T>G (p.Tyr323Asp)
c.1177T>G (p.Tyr393Asp)
c.823T>G (p.Tyr275Asp)
c.*1112T>G (n.*1112T>G)
c.1096T>G (p.Tyr366Asp)
c.1117T>G (p.Tyr373Asp)
c.1324T>G (p.Tyr442Asp)
c.1099T>G (p.Tyr367Asp)
c.1321T>G (p.Tyr441Asp)
c.1321+301T>G (n.1321+301T>G)
c.1171T>G (p.Tyr391Asp)
c.964T>G (p.Tyr322Asp)
c.751T>G (p.Tyr251Asp)
n.989T>G
Xg.154564322A=CA2466734027IKBKGc.1085A= (p.Tyr362=)
c.1121A= (p.Tyr374=)
c.719A= (p.Tyr240=)
c.968A= (p.Tyr323=)
c.1178A= (p.Tyr393=)
c.824A= (p.Tyr275=)
c.*1113A= (n.*1113A=)
c.1097A= (p.Tyr366=)
c.1118A= (p.Tyr373=)
c.1325A= (p.Tyr442=)
c.1100A= (p.Tyr367=)
c.1322A= (p.Tyr441=)
c.1321+302A= (n.1321+302A=)
c.1172A= (p.Tyr391=)
c.965A= (p.Tyr322=)
c.752A= (p.Tyr251=)
n.990A=
Xg.154564322A>CCA415219011IKBKGc.1085A>C (p.Tyr362Ser)
c.1121A>C (p.Tyr374Ser)
c.719A>C (p.Tyr240Ser)
c.968A>C (p.Tyr323Ser)
c.1178A>C (p.Tyr393Ser)
c.824A>C (p.Tyr275Ser)
c.*1113A>C (n.*1113A>C)
c.1097A>C (p.Tyr366Ser)
c.1118A>C (p.Tyr373Ser)
c.1325A>C (p.Tyr442Ser)
c.1100A>C (p.Tyr367Ser)
c.1322A>C (p.Tyr441Ser)
c.1321+302A>C (n.1321+302A>C)
c.1172A>C (p.Tyr391Ser)
c.965A>C (p.Tyr322Ser)
c.752A>C (p.Tyr251Ser)
n.990A>C
dbSNP gnomAD v2
Xg.154564322A>GCA415219012IKBKGc.1085A>G (p.Tyr362Cys)
c.1121A>G (p.Tyr374Cys)
c.719A>G (p.Tyr240Cys)
c.968A>G (p.Tyr323Cys)
c.1178A>G (p.Tyr393Cys)
c.824A>G (p.Tyr275Cys)
c.*1113A>G (n.*1113A>G)
c.1097A>G (p.Tyr366Cys)
c.1118A>G (p.Tyr373Cys)
c.1325A>G (p.Tyr442Cys)
c.1100A>G (p.Tyr367Cys)
c.1322A>G (p.Tyr441Cys)
c.1321+302A>G (n.1321+302A>G)
c.1172A>G (p.Tyr391Cys)
c.965A>G (p.Tyr322Cys)
c.752A>G (p.Tyr251Cys)
n.990A>G
Xg.154564322A>TCA415219015IKBKGc.1085A>T (p.Tyr362Phe)
c.1121A>T (p.Tyr374Phe)
c.719A>T (p.Tyr240Phe)
c.968A>T (p.Tyr323Phe)
c.1178A>T (p.Tyr393Phe)
c.824A>T (p.Tyr275Phe)
c.*1113A>T (n.*1113A>T)
c.1097A>T (p.Tyr366Phe)
c.1118A>T (p.Tyr373Phe)
c.1325A>T (p.Tyr442Phe)
c.1100A>T (p.Tyr367Phe)
c.1322A>T (p.Tyr441Phe)
c.1321+302A>T (n.1321+302A>T)
c.1172A>T (p.Tyr391Phe)
c.965A>T (p.Tyr322Phe)
c.752A>T (p.Tyr251Phe)
n.990A>T
Xg.154564323C>ACA415219018IKBKGc.1086C>A (p.Tyr362Ter)
c.1122C>A (p.Tyr374Ter)
c.720C>A (p.Tyr240Ter)
c.969C>A (p.Tyr323Ter)
c.1179C>A (p.Tyr393Ter)
c.825C>A (p.Tyr275Ter)
c.*1114C>A (n.*1114C>A)
c.1098C>A (p.Tyr366Ter)
c.1119C>A (p.Tyr373Ter)
c.1326C>A (p.Tyr442Ter)
c.1101C>A (p.Tyr367Ter)
c.1323C>A (p.Tyr441Ter)
c.1321+303C>A (n.1321+303C>A)
c.1173C>A (p.Tyr391Ter)
c.966C>A (p.Tyr322Ter)
c.753C>A (p.Tyr251Ter)
n.991C>A
Xg.154564323C=CA2466734029IKBKGc.1086C= (p.Tyr362=)
c.1122C= (p.Tyr374=)
c.720C= (p.Tyr240=)
c.969C= (p.Tyr323=)
c.1179C= (p.Tyr393=)
c.825C= (p.Tyr275=)
c.*1114C= (n.*1114C=)
c.1098C= (p.Tyr366=)
c.1119C= (p.Tyr373=)
c.1326C= (p.Tyr442=)
c.1101C= (p.Tyr367=)
c.1323C= (p.Tyr441=)
c.1321+303C= (n.1321+303C=)
c.1173C= (p.Tyr391=)
c.966C= (p.Tyr322=)
c.753C= (p.Tyr251=)
n.991C=
Xg.154564323C>GCA415219021IKBKGc.1086C>G (p.Tyr362Ter)
c.1122C>G (p.Tyr374Ter)
c.720C>G (p.Tyr240Ter)
c.969C>G (p.Tyr323Ter)
c.1179C>G (p.Tyr393Ter)
c.825C>G (p.Tyr275Ter)
c.*1114C>G (n.*1114C>G)
c.1098C>G (p.Tyr366Ter)
c.1119C>G (p.Tyr373Ter)
c.1326C>G (p.Tyr442Ter)
c.1101C>G (p.Tyr367Ter)
c.1323C>G (p.Tyr441Ter)
c.1321+303C>G (n.1321+303C>G)
c.1173C>G (p.Tyr391Ter)
c.966C>G (p.Tyr322Ter)
c.753C>G (p.Tyr251Ter)
n.991C>G
Xg.154564323C>TCA519287096IKBKGc.1086C>T (p.Tyr362=)
c.1122C>T (p.Tyr374=)
c.720C>T (p.Tyr240=)
c.969C>T (p.Tyr323=)
c.1179C>T (p.Tyr393=)
c.825C>T (p.Tyr275=)
c.*1114C>T (n.*1114C>T)
c.1098C>T (p.Tyr366=)
c.1119C>T (p.Tyr373=)
c.1326C>T (p.Tyr442=)
c.1101C>T (p.Tyr367=)
c.1323C>T (p.Tyr441=)
c.1321+303C>T (n.1321+303C>T)
c.1173C>T (p.Tyr391=)
c.966C>T (p.Tyr322=)
c.753C>T (p.Tyr251=)
n.991C>T
dbSNP gnomAD v2
Xg.154564330_154564334delCA2573119317IKBKGc.1093_1097del (p.Ser365ProfsTer16)
c.1129_1133del (p.Ser377ProfsTer16)
c.727_731del (p.Ser243ProfsTer16)
c.976_980del (p.Ser326ProfsTer16)
c.1186_1190del (p.Ser396ProfsTer16)
c.832_836del (p.Ser278ProfsTer16)
c.*1121_*1125del (n.*1121_*1125del)
c.1105_1109del (p.Ser369ProfsTer16)
c.1126_1130del (p.Ser376ProfsTer16)
c.1333_1337del (p.Ser445ProfsTer16)
c.1108_1112del (p.Ser370ProfsTer16)
c.1330_1334del (p.Ser444ProfsTer16)
c.1321+310_1321+314del (n.1321+310_1321+314del)
c.1180_1184del (p.Ser394ProfsTer16)
c.973_977del (p.Ser325ProfsTer16)
c.760_764del (p.Ser254ProfsTer16)
n.998_1002del
Xg.154564324C>ACA415219024IKBKGc.1087C>A (p.Leu363Ile)
c.1123C>A (p.Leu375Ile)
c.721C>A (p.Leu241Ile)
c.970C>A (p.Leu324Ile)
c.1180C>A (p.Leu394Ile)
c.826C>A (p.Leu276Ile)
c.*1115C>A (n.*1115C>A)
c.1099C>A (p.Leu367Ile)
c.1120C>A (p.Leu374Ile)
c.1327C>A (p.Leu443Ile)
c.1102C>A (p.Leu368Ile)
c.1324C>A (p.Leu442Ile)
c.1321+304C>A (n.1321+304C>A)
c.1174C>A (p.Leu392Ile)
c.967C>A (p.Leu323Ile)
c.754C>A (p.Leu252Ile)
n.992C>A
Xg.154564324C=CA2466734030IKBKGc.1087C= (p.Leu363=)
c.1123C= (p.Leu375=)
c.721C= (p.Leu241=)
c.970C= (p.Leu324=)
c.1180C= (p.Leu394=)
c.826C= (p.Leu276=)
c.*1115C= (n.*1115C=)
c.1099C= (p.Leu367=)
c.1120C= (p.Leu374=)
c.1327C= (p.Leu443=)
c.1102C= (p.Leu368=)
c.1324C= (p.Leu442=)
c.1321+304C= (n.1321+304C=)
c.1174C= (p.Leu392=)
c.967C= (p.Leu323=)
c.754C= (p.Leu252=)
n.992C=
Xg.154564324C>GCA415219025IKBKGc.1087C>G (p.Leu363Val)
c.1123C>G (p.Leu375Val)
c.721C>G (p.Leu241Val)
c.970C>G (p.Leu324Val)
c.1180C>G (p.Leu394Val)
c.826C>G (p.Leu276Val)
c.*1115C>G (n.*1115C>G)
c.1099C>G (p.Leu367Val)
c.1120C>G (p.Leu374Val)
c.1327C>G (p.Leu443Val)
c.1102C>G (p.Leu368Val)
c.1324C>G (p.Leu442Val)
c.1321+304C>G (n.1321+304C>G)
c.1174C>G (p.Leu392Val)
c.967C>G (p.Leu323Val)
c.754C>G (p.Leu252Val)
n.992C>G
Xg.154564324C>TCA415219029IKBKGc.1087C>T (p.Leu363Phe)
c.1123C>T (p.Leu375Phe)
c.721C>T (p.Leu241Phe)
c.970C>T (p.Leu324Phe)
c.1180C>T (p.Leu394Phe)
c.826C>T (p.Leu276Phe)
c.*1115C>T (n.*1115C>T)
c.1099C>T (p.Leu367Phe)
c.1120C>T (p.Leu374Phe)
c.1327C>T (p.Leu443Phe)
c.1102C>T (p.Leu368Phe)
c.1324C>T (p.Leu442Phe)
c.1321+304C>T (n.1321+304C>T)
c.1174C>T (p.Leu392Phe)
c.967C>T (p.Leu323Phe)
c.754C>T (p.Leu252Phe)
n.992C>T
dbSNP gnomAD v2
Xg.154564325T>ACA415219033IKBKGc.1088T>A (p.Leu363His)
c.1124T>A (p.Leu375His)
c.722T>A (p.Leu241His)
c.971T>A (p.Leu324His)
c.1181T>A (p.Leu394His)
c.827T>A (p.Leu276His)
c.*1116T>A (n.*1116T>A)
c.1100T>A (p.Leu367His)
c.1121T>A (p.Leu374His)
c.1328T>A (p.Leu443His)
c.1103T>A (p.Leu368His)
c.1325T>A (p.Leu442His)
c.1321+305T>A (n.1321+305T>A)
c.1175T>A (p.Leu392His)
c.968T>A (p.Leu323His)
c.755T>A (p.Leu252His)
n.993T>A
Xg.154564325T>CCA415219039IKBKGc.1088T>C (p.Leu363Pro)
c.1124T>C (p.Leu375Pro)
c.722T>C (p.Leu241Pro)
c.971T>C (p.Leu324Pro)
c.1181T>C (p.Leu394Pro)
c.827T>C (p.Leu276Pro)
c.*1116T>C (n.*1116T>C)
c.1100T>C (p.Leu367Pro)
c.1121T>C (p.Leu374Pro)
c.1328T>C (p.Leu443Pro)
c.1103T>C (p.Leu368Pro)
c.1325T>C (p.Leu442Pro)
c.1321+305T>C (n.1321+305T>C)
c.1175T>C (p.Leu392Pro)
c.968T>C (p.Leu323Pro)
c.755T>C (p.Leu252Pro)
n.993T>C
Xg.154564325T>GCA415219041IKBKGc.1088T>G (p.Leu363Arg)
c.1124T>G (p.Leu375Arg)
c.722T>G (p.Leu241Arg)
c.971T>G (p.Leu324Arg)
c.1181T>G (p.Leu394Arg)
c.827T>G (p.Leu276Arg)
c.*1116T>G (n.*1116T>G)
c.1100T>G (p.Leu367Arg)
c.1121T>G (p.Leu374Arg)
c.1328T>G (p.Leu443Arg)
c.1103T>G (p.Leu368Arg)
c.1325T>G (p.Leu442Arg)
c.1321+305T>G (n.1321+305T>G)
c.1175T>G (p.Leu392Arg)
c.968T>G (p.Leu323Arg)
c.755T>G (p.Leu252Arg)
n.993T>G
Xg.154564326C>ACA519287099IKBKGc.1089C>A (p.Leu363=)
c.1125C>A (p.Leu375=)
c.723C>A (p.Leu241=)
c.972C>A (p.Leu324=)
c.1182C>A (p.Leu394=)
c.828C>A (p.Leu276=)
c.*1117C>A (n.*1117C>A)
c.1101C>A (p.Leu367=)
c.1122C>A (p.Leu374=)
c.1329C>A (p.Leu443=)
c.1104C>A (p.Leu368=)
c.1326C>A (p.Leu442=)
c.1321+306C>A (n.1321+306C>A)
c.1176C>A (p.Leu392=)
c.969C>A (p.Leu323=)
c.756C>A (p.Leu252=)
n.994C>A
Xg.154564326C>GCA519287101IKBKGc.1089C>G (p.Leu363=)
c.1125C>G (p.Leu375=)
c.723C>G (p.Leu241=)
c.972C>G (p.Leu324=)
c.1182C>G (p.Leu394=)
c.828C>G (p.Leu276=)
c.*1117C>G (n.*1117C>G)
c.1101C>G (p.Leu367=)
c.1122C>G (p.Leu374=)
c.1329C>G (p.Leu443=)
c.1104C>G (p.Leu368=)
c.1326C>G (p.Leu442=)
c.1321+306C>G (n.1321+306C>G)
c.1176C>G (p.Leu392=)
c.969C>G (p.Leu323=)
c.756C>G (p.Leu252=)
n.994C>G
Xg.154564326C>TCA519287102IKBKGc.1089C>T (p.Leu363=)
c.1125C>T (p.Leu375=)
c.723C>T (p.Leu241=)
c.972C>T (p.Leu324=)
c.1182C>T (p.Leu394=)
c.828C>T (p.Leu276=)
c.*1117C>T (n.*1117C>T)
c.1101C>T (p.Leu367=)
c.1122C>T (p.Leu374=)
c.1329C>T (p.Leu443=)
c.1104C>T (p.Leu368=)
c.1326C>T (p.Leu442=)
c.1321+306C>T (n.1321+306C>T)
c.1176C>T (p.Leu392=)
c.969C>T (p.Leu323=)
c.756C>T (p.Leu252=)
n.994C>T
Xg.154564327T>ACA415219044IKBKGc.1090T>A (p.Ser364Thr)
c.1126T>A (p.Ser376Thr)
c.724T>A (p.Ser242Thr)
c.973T>A (p.Ser325Thr)
c.1183T>A (p.Ser395Thr)
c.829T>A (p.Ser277Thr)
c.*1118T>A (n.*1118T>A)
c.1102T>A (p.Ser368Thr)
c.1123T>A (p.Ser375Thr)
c.1330T>A (p.Ser444Thr)
c.1105T>A (p.Ser369Thr)
c.1327T>A (p.Ser443Thr)
c.1321+307T>A (n.1321+307T>A)
c.1177T>A (p.Ser393Thr)
c.970T>A (p.Ser324Thr)
c.757T>A (p.Ser253Thr)
n.995T>A
Xg.154564327T>CCA415219046IKBKGc.1090T>C (p.Ser364Pro)
c.1126T>C (p.Ser376Pro)
c.724T>C (p.Ser242Pro)
c.973T>C (p.Ser325Pro)
c.1183T>C (p.Ser395Pro)
c.829T>C (p.Ser277Pro)
c.*1118T>C (n.*1118T>C)
c.1102T>C (p.Ser368Pro)
c.1123T>C (p.Ser375Pro)
c.1330T>C (p.Ser444Pro)
c.1105T>C (p.Ser369Pro)
c.1327T>C (p.Ser443Pro)
c.1321+307T>C (n.1321+307T>C)
c.1177T>C (p.Ser393Pro)
c.970T>C (p.Ser324Pro)
c.757T>C (p.Ser253Pro)
n.995T>C
Xg.154564327T>GCA415219045IKBKGc.1090T>G (p.Ser364Ala)
c.1126T>G (p.Ser376Ala)
c.724T>G (p.Ser242Ala)
c.973T>G (p.Ser325Ala)
c.1183T>G (p.Ser395Ala)
c.829T>G (p.Ser277Ala)
c.*1118T>G (n.*1118T>G)
c.1102T>G (p.Ser368Ala)
c.1123T>G (p.Ser375Ala)
c.1330T>G (p.Ser444Ala)
c.1105T>G (p.Ser369Ala)
c.1327T>G (p.Ser443Ala)
c.1321+307T>G (n.1321+307T>G)
c.1177T>G (p.Ser393Ala)
c.970T>G (p.Ser324Ala)
c.757T>G (p.Ser253Ala)
n.995T>G
Xg.154564328C>ACA415219048IKBKGc.1091C>A (p.Ser364Tyr)
c.1127C>A (p.Ser376Tyr)
c.725C>A (p.Ser242Tyr)
c.974C>A (p.Ser325Tyr)
c.1184C>A (p.Ser395Tyr)
c.830C>A (p.Ser277Tyr)
c.*1119C>A (n.*1119C>A)
c.1103C>A (p.Ser368Tyr)
c.1124C>A (p.Ser375Tyr)
c.1331C>A (p.Ser444Tyr)
c.1106C>A (p.Ser369Tyr)
c.1328C>A (p.Ser443Tyr)
c.1321+308C>A (n.1321+308C>A)
c.1178C>A (p.Ser393Tyr)
c.971C>A (p.Ser324Tyr)
c.758C>A (p.Ser253Tyr)
n.996C>A
Xg.154564328C>GCA415219052IKBKGc.1091C>G (p.Ser364Cys)
c.1127C>G (p.Ser376Cys)
c.725C>G (p.Ser242Cys)
c.974C>G (p.Ser325Cys)
c.1184C>G (p.Ser395Cys)
c.830C>G (p.Ser277Cys)
c.*1119C>G (n.*1119C>G)
c.1103C>G (p.Ser368Cys)
c.1124C>G (p.Ser375Cys)
c.1331C>G (p.Ser444Cys)
c.1106C>G (p.Ser369Cys)
c.1328C>G (p.Ser443Cys)
c.1321+308C>G (n.1321+308C>G)
c.1178C>G (p.Ser393Cys)
c.971C>G (p.Ser324Cys)
c.758C>G (p.Ser253Cys)
n.996C>G
Xg.154564328C>TCA415219049IKBKGc.1091C>T (p.Ser364Phe)
c.1127C>T (p.Ser376Phe)
c.725C>T (p.Ser242Phe)
c.974C>T (p.Ser325Phe)
c.1184C>T (p.Ser395Phe)
c.830C>T (p.Ser277Phe)
c.*1119C>T (n.*1119C>T)
c.1103C>T (p.Ser368Phe)
c.1124C>T (p.Ser375Phe)
c.1331C>T (p.Ser444Phe)
c.1106C>T (p.Ser369Phe)
c.1328C>T (p.Ser443Phe)
c.1321+308C>T (n.1321+308C>T)
c.1178C>T (p.Ser393Phe)
c.971C>T (p.Ser324Phe)
c.758C>T (p.Ser253Phe)
n.996C>T
Xg.154564329C>ACA519287104IKBKGc.1092C>A (p.Ser364=)
c.1128C>A (p.Ser376=)
c.726C>A (p.Ser242=)
c.975C>A (p.Ser325=)
c.1185C>A (p.Ser395=)
c.831C>A (p.Ser277=)
c.*1120C>A (n.*1120C>A)
c.1104C>A (p.Ser368=)
c.1125C>A (p.Ser375=)
c.1332C>A (p.Ser444=)
c.1107C>A (p.Ser369=)
c.1329C>A (p.Ser443=)
c.1321+309C>A (n.1321+309C>A)
c.1179C>A (p.Ser393=)
c.972C>A (p.Ser324=)
c.759C>A (p.Ser253=)
n.997C>A
Xg.154564329C>GCA519287106IKBKGc.1092C>G (p.Ser364=)
c.1128C>G (p.Ser376=)
c.726C>G (p.Ser242=)
c.975C>G (p.Ser325=)
c.1185C>G (p.Ser395=)
c.831C>G (p.Ser277=)
c.*1120C>G (n.*1120C>G)
c.1104C>G (p.Ser368=)
c.1125C>G (p.Ser375=)
c.1332C>G (p.Ser444=)
c.1107C>G (p.Ser369=)
c.1329C>G (p.Ser443=)
c.1321+309C>G (n.1321+309C>G)
c.1179C>G (p.Ser393=)
c.972C>G (p.Ser324=)
c.759C>G (p.Ser253=)
n.997C>G
Xg.154564329C>TCA519287108IKBKGc.1092C>T (p.Ser364=)
c.1128C>T (p.Ser376=)
c.726C>T (p.Ser242=)
c.975C>T (p.Ser325=)
c.1185C>T (p.Ser395=)
c.831C>T (p.Ser277=)
c.*1120C>T (n.*1120C>T)
c.1104C>T (p.Ser368=)
c.1125C>T (p.Ser375=)
c.1332C>T (p.Ser444=)
c.1107C>T (p.Ser369=)
c.1329C>T (p.Ser443=)
c.1321+309C>T (n.1321+309C>T)
c.1179C>T (p.Ser393=)
c.972C>T (p.Ser324=)
c.759C>T (p.Ser253=)
n.997C>T
Xg.154564330T>ACA415219060IKBKGc.1093T>A (p.Ser365Thr)
c.1129T>A (p.Ser377Thr)
c.727T>A (p.Ser243Thr)
c.976T>A (p.Ser326Thr)
c.1186T>A (p.Ser396Thr)
c.832T>A (p.Ser278Thr)
c.*1121T>A (n.*1121T>A)
c.1105T>A (p.Ser369Thr)
c.1126T>A (p.Ser376Thr)
c.1333T>A (p.Ser445Thr)
c.1108T>A (p.Ser370Thr)
c.1330T>A (p.Ser444Thr)
c.1321+310T>A (n.1321+310T>A)
c.1180T>A (p.Ser394Thr)
c.973T>A (p.Ser325Thr)
c.760T>A (p.Ser254Thr)
n.998T>A
Xg.154564330T>CCA415219123IKBKGc.1093T>C (p.Ser365Pro)
c.1129T>C (p.Ser377Pro)
c.727T>C (p.Ser243Pro)
c.976T>C (p.Ser326Pro)
c.1186T>C (p.Ser396Pro)
c.832T>C (p.Ser278Pro)
c.*1121T>C (n.*1121T>C)
c.1105T>C (p.Ser369Pro)
c.1126T>C (p.Ser376Pro)
c.1333T>C (p.Ser445Pro)
c.1108T>C (p.Ser370Pro)
c.1330T>C (p.Ser444Pro)
c.1321+310T>C (n.1321+310T>C)
c.1180T>C (p.Ser394Pro)
c.973T>C (p.Ser325Pro)
c.760T>C (p.Ser254Pro)
n.998T>C
Xg.154564330T>GCA415219076IKBKGc.1093T>G (p.Ser365Ala)
c.1129T>G (p.Ser377Ala)
c.727T>G (p.Ser243Ala)
c.976T>G (p.Ser326Ala)
c.1186T>G (p.Ser396Ala)
c.832T>G (p.Ser278Ala)
c.*1121T>G (n.*1121T>G)
c.1105T>G (p.Ser369Ala)
c.1126T>G (p.Ser376Ala)
c.1333T>G (p.Ser445Ala)
c.1108T>G (p.Ser370Ala)
c.1330T>G (p.Ser444Ala)
c.1321+310T>G (n.1321+310T>G)
c.1180T>G (p.Ser394Ala)
c.973T>G (p.Ser325Ala)
c.760T>G (p.Ser254Ala)
n.998T>G
Xg.154564331C>ACA415219127IKBKGc.1094C>A (p.Ser365Tyr)
c.1130C>A (p.Ser377Tyr)
c.728C>A (p.Ser243Tyr)
c.977C>A (p.Ser326Tyr)
c.1187C>A (p.Ser396Tyr)
c.833C>A (p.Ser278Tyr)
c.*1122C>A (n.*1122C>A)
c.1106C>A (p.Ser369Tyr)
c.1127C>A (p.Ser376Tyr)
c.1334C>A (p.Ser445Tyr)
c.1109C>A (p.Ser370Tyr)
c.1331C>A (p.Ser444Tyr)
c.1321+311C>A (n.1321+311C>A)
c.1181C>A (p.Ser394Tyr)
c.974C>A (p.Ser325Tyr)
c.761C>A (p.Ser254Tyr)
n.999C>A
Xg.154564331C>GCA415219135IKBKGc.1094C>G (p.Ser365Cys)
c.1130C>G (p.Ser377Cys)
c.728C>G (p.Ser243Cys)
c.977C>G (p.Ser326Cys)
c.1187C>G (p.Ser396Cys)
c.833C>G (p.Ser278Cys)
c.*1122C>G (n.*1122C>G)
c.1106C>G (p.Ser369Cys)
c.1127C>G (p.Ser376Cys)
c.1334C>G (p.Ser445Cys)
c.1109C>G (p.Ser370Cys)
c.1331C>G (p.Ser444Cys)
c.1321+311C>G (n.1321+311C>G)
c.1181C>G (p.Ser394Cys)
c.974C>G (p.Ser325Cys)
c.761C>G (p.Ser254Cys)
n.999C>G
Xg.154564331C>TCA415219130IKBKGc.1094C>T (p.Ser365Phe)
c.1130C>T (p.Ser377Phe)
c.728C>T (p.Ser243Phe)
c.977C>T (p.Ser326Phe)
c.1187C>T (p.Ser396Phe)
c.833C>T (p.Ser278Phe)
c.*1122C>T (n.*1122C>T)
c.1106C>T (p.Ser369Phe)
c.1127C>T (p.Ser376Phe)
c.1334C>T (p.Ser445Phe)
c.1109C>T (p.Ser370Phe)
c.1331C>T (p.Ser444Phe)
c.1321+311C>T (n.1321+311C>T)
c.1181C>T (p.Ser394Phe)
c.974C>T (p.Ser325Phe)
c.761C>T (p.Ser254Phe)
n.999C>T
Xg.154564332T>ACA519287113IKBKGc.1095T>A (p.Ser365=)
c.1131T>A (p.Ser377=)
c.729T>A (p.Ser243=)
c.978T>A (p.Ser326=)
c.1188T>A (p.Ser396=)
c.834T>A (p.Ser278=)
c.*1123T>A (n.*1123T>A)
c.1107T>A (p.Ser369=)
c.1128T>A (p.Ser376=)
c.1335T>A (p.Ser445=)
c.1110T>A (p.Ser370=)
c.1332T>A (p.Ser444=)
c.1321+312T>A (n.1321+312T>A)
c.1182T>A (p.Ser394=)
c.975T>A (p.Ser325=)
c.762T>A (p.Ser254=)
n.1000T>A
Xg.154564332T>CCA519287114IKBKGc.1095T>C (p.Ser365=)
c.1131T>C (p.Ser377=)
c.729T>C (p.Ser243=)
c.978T>C (p.Ser326=)
c.1188T>C (p.Ser396=)
c.834T>C (p.Ser278=)
c.*1123T>C (n.*1123T>C)
c.1107T>C (p.Ser369=)
c.1128T>C (p.Ser376=)
c.1335T>C (p.Ser445=)
c.1110T>C (p.Ser370=)
c.1332T>C (p.Ser444=)
c.1321+312T>C (n.1321+312T>C)
c.1182T>C (p.Ser394=)
c.975T>C (p.Ser325=)
c.762T>C (p.Ser254=)
n.1000T>C
Xg.154564332T>GCA519287115IKBKGc.1095T>G (p.Ser365=)
c.1131T>G (p.Ser377=)
c.729T>G (p.Ser243=)
c.978T>G (p.Ser326=)
c.1188T>G (p.Ser396=)
c.834T>G (p.Ser278=)
c.*1123T>G (n.*1123T>G)
c.1107T>G (p.Ser369=)
c.1128T>G (p.Ser376=)
c.1335T>G (p.Ser445=)
c.1110T>G (p.Ser370=)
c.1332T>G (p.Ser444=)
c.1321+312T>G (n.1321+312T>G)
c.1182T>G (p.Ser394=)
c.975T>G (p.Ser325=)
c.762T>G (p.Ser254=)
n.1000T>G
Xg.154564333C>ACA415219143IKBKGc.1096C>A (p.Pro366Thr)
c.1132C>A (p.Pro378Thr)
c.730C>A (p.Pro244Thr)
c.979C>A (p.Pro327Thr)
c.1189C>A (p.Pro397Thr)
c.835C>A (p.Pro279Thr)
c.*1124C>A (n.*1124C>A)
c.1108C>A (p.Pro370Thr)
c.1129C>A (p.Pro377Thr)
c.1336C>A (p.Pro446Thr)
c.1111C>A (p.Pro371Thr)
c.1333C>A (p.Pro445Thr)
c.1321+313C>A (n.1321+313C>A)
c.1183C>A (p.Pro395Thr)
c.976C>A (p.Pro326Thr)
c.763C>A (p.Pro255Thr)
n.1001C>A
Xg.154564333C>GCA415219149IKBKGc.1096C>G (p.Pro366Ala)
c.1132C>G (p.Pro378Ala)
c.730C>G (p.Pro244Ala)
c.979C>G (p.Pro327Ala)
c.1189C>G (p.Pro397Ala)
c.835C>G (p.Pro279Ala)
c.*1124C>G (n.*1124C>G)
c.1108C>G (p.Pro370Ala)
c.1129C>G (p.Pro377Ala)
c.1336C>G (p.Pro446Ala)
c.1111C>G (p.Pro371Ala)
c.1333C>G (p.Pro445Ala)
c.1321+313C>G (n.1321+313C>G)
c.1183C>G (p.Pro395Ala)
c.976C>G (p.Pro326Ala)
c.763C>G (p.Pro255Ala)
n.1001C>G
Xg.154564333C>TCA415219153IKBKGc.1096C>T (p.Pro366Ser)
c.1132C>T (p.Pro378Ser)
c.730C>T (p.Pro244Ser)
c.979C>T (p.Pro327Ser)
c.1189C>T (p.Pro397Ser)
c.835C>T (p.Pro279Ser)
c.*1124C>T (n.*1124C>T)
c.1108C>T (p.Pro370Ser)
c.1129C>T (p.Pro377Ser)
c.1336C>T (p.Pro446Ser)
c.1111C>T (p.Pro371Ser)
c.1333C>T (p.Pro445Ser)
c.1321+313C>T (n.1321+313C>T)
c.1183C>T (p.Pro395Ser)
c.976C>T (p.Pro326Ser)
c.763C>T (p.Pro255Ser)
n.1001C>T
Xg.154564336dupCA2695237092IKBKGc.1099dup (p.Leu367ProfsTer16)
c.1135dup (p.Leu379ProfsTer16)
c.733dup (p.Leu245ProfsTer16)
c.982dup (p.Leu328ProfsTer16)
c.1192dup (p.Leu398ProfsTer16)
c.838dup (p.Leu280ProfsTer16)
c.*1127dup (n.*1127dup)
c.1111dup (p.Leu371ProfsTer16)
c.1132dup (p.Leu378ProfsTer16)
c.1339dup (p.Leu447ProfsTer16)
c.1114dup (p.Leu372ProfsTer16)
c.1336dup (p.Leu446ProfsTer16)
c.1321+316dup (n.1321+316dup)
c.1186dup (p.Leu396ProfsTer16)
c.979dup (p.Leu327ProfsTer16)
c.766dup (p.Leu256ProfsTer16)
n.1004dup
Xg.154564334C>ACA415219163IKBKGc.1097C>A (p.Pro366His)
c.1133C>A (p.Pro378His)
c.731C>A (p.Pro244His)
c.980C>A (p.Pro327His)
c.1190C>A (p.Pro397His)
c.836C>A (p.Pro279His)
c.*1125C>A (n.*1125C>A)
c.1109C>A (p.Pro370His)
c.1130C>A (p.Pro377His)
c.1337C>A (p.Pro446His)
c.1112C>A (p.Pro371His)
c.1334C>A (p.Pro445His)
c.1321+314C>A (n.1321+314C>A)
c.1184C>A (p.Pro395His)
c.977C>A (p.Pro326His)
c.764C>A (p.Pro255His)
n.1002C>A
Xg.154564334C>GCA415219164IKBKGc.1097C>G (p.Pro366Arg)
c.1133C>G (p.Pro378Arg)
c.731C>G (p.Pro244Arg)
c.980C>G (p.Pro327Arg)
c.1190C>G (p.Pro397Arg)
c.836C>G (p.Pro279Arg)
c.*1125C>G (n.*1125C>G)
c.1109C>G (p.Pro370Arg)
c.1130C>G (p.Pro377Arg)
c.1337C>G (p.Pro446Arg)
c.1112C>G (p.Pro371Arg)
c.1334C>G (p.Pro445Arg)
c.1321+314C>G (n.1321+314C>G)
c.1184C>G (p.Pro395Arg)
c.977C>G (p.Pro326Arg)
c.764C>G (p.Pro255Arg)
n.1002C>G
Xg.154564334C>TCA415219165IKBKGc.1097C>T (p.Pro366Leu)
c.1133C>T (p.Pro378Leu)
c.731C>T (p.Pro244Leu)
c.980C>T (p.Pro327Leu)
c.1190C>T (p.Pro397Leu)
c.836C>T (p.Pro279Leu)
c.*1125C>T (n.*1125C>T)
c.1109C>T (p.Pro370Leu)
c.1130C>T (p.Pro377Leu)
c.1337C>T (p.Pro446Leu)
c.1112C>T (p.Pro371Leu)
c.1334C>T (p.Pro445Leu)
c.1321+314C>T (n.1321+314C>T)
c.1184C>T (p.Pro395Leu)
c.977C>T (p.Pro326Leu)
c.764C>T (p.Pro255Leu)
n.1002C>T
Xg.154564335C>ACA519287117IKBKGc.1098C>A (p.Pro366=)
c.1134C>A (p.Pro378=)
c.732C>A (p.Pro244=)
c.981C>A (p.Pro327=)
c.1191C>A (p.Pro397=)
c.837C>A (p.Pro279=)
c.*1126C>A (n.*1126C>A)
c.1110C>A (p.Pro370=)
c.1131C>A (p.Pro377=)
c.1338C>A (p.Pro446=)
c.1113C>A (p.Pro371=)
c.1335C>A (p.Pro445=)
c.1321+315C>A (n.1321+315C>A)
c.1185C>A (p.Pro395=)
c.978C>A (p.Pro326=)
c.765C>A (p.Pro255=)
n.1003C>A
Xg.154564335C>GCA519287119IKBKGc.1098C>G (p.Pro366=)
c.1134C>G (p.Pro378=)
c.732C>G (p.Pro244=)
c.981C>G (p.Pro327=)
c.1191C>G (p.Pro397=)
c.837C>G (p.Pro279=)
c.*1126C>G (n.*1126C>G)
c.1110C>G (p.Pro370=)
c.1131C>G (p.Pro377=)
c.1338C>G (p.Pro446=)
c.1113C>G (p.Pro371=)
c.1335C>G (p.Pro445=)
c.1321+315C>G (n.1321+315C>G)
c.1185C>G (p.Pro395=)
c.978C>G (p.Pro326=)
c.765C>G (p.Pro255=)
n.1003C>G
Xg.154564335C>TCA519287118IKBKGc.1098C>T (p.Pro366=)
c.1134C>T (p.Pro378=)
c.732C>T (p.Pro244=)
c.981C>T (p.Pro327=)
c.1191C>T (p.Pro397=)
c.837C>T (p.Pro279=)
c.*1126C>T (n.*1126C>T)
c.1110C>T (p.Pro370=)
c.1131C>T (p.Pro377=)
c.1338C>T (p.Pro446=)
c.1113C>T (p.Pro371=)
c.1335C>T (p.Pro445=)
c.1321+315C>T (n.1321+315C>T)
c.1185C>T (p.Pro395=)
c.978C>T (p.Pro326=)
c.765C>T (p.Pro255=)
n.1003C>T
Xg.154564336C>ACA415219169IKBKGc.1099C>A (p.Leu367Met)
c.1135C>A (p.Leu379Met)
c.733C>A (p.Leu245Met)
c.982C>A (p.Leu328Met)
c.1192C>A (p.Leu398Met)
c.838C>A (p.Leu280Met)
c.*1127C>A (n.*1127C>A)
c.1111C>A (p.Leu371Met)
c.1132C>A (p.Leu378Met)
c.1339C>A (p.Leu447Met)
c.1114C>A (p.Leu372Met)
c.1336C>A (p.Leu446Met)
c.1321+316C>A (n.1321+316C>A)
c.1186C>A (p.Leu396Met)
c.979C>A (p.Leu327Met)
c.766C>A (p.Leu256Met)
n.1004C>A
Xg.154564336C>GCA415219171IKBKGc.1099C>G (p.Leu367Val)
c.1135C>G (p.Leu379Val)
c.733C>G (p.Leu245Val)
c.982C>G (p.Leu328Val)
c.1192C>G (p.Leu398Val)
c.838C>G (p.Leu280Val)
c.*1127C>G (n.*1127C>G)
c.1111C>G (p.Leu371Val)
c.1132C>G (p.Leu378Val)
c.1339C>G (p.Leu447Val)
c.1114C>G (p.Leu372Val)
c.1336C>G (p.Leu446Val)
c.1321+316C>G (n.1321+316C>G)
c.1186C>G (p.Leu396Val)
c.979C>G (p.Leu327Val)
c.766C>G (p.Leu256Val)
n.1004C>G
Xg.154564336C>TCA519287122IKBKGc.1099C>T (p.Leu367=)
c.1135C>T (p.Leu379=)
c.733C>T (p.Leu245=)
c.982C>T (p.Leu328=)
c.1192C>T (p.Leu398=)
c.838C>T (p.Leu280=)
c.*1127C>T (n.*1127C>T)
c.1111C>T (p.Leu371=)
c.1132C>T (p.Leu378=)
c.1339C>T (p.Leu447=)
c.1114C>T (p.Leu372=)
c.1336C>T (p.Leu446=)
c.1321+316C>T (n.1321+316C>T)
c.1186C>T (p.Leu396=)
c.979C>T (p.Leu327=)
c.766C>T (p.Leu256=)
n.1004C>T
Xg.154564337T>ACA415219185IKBKGc.1100T>A (p.Leu367Gln)
c.1136T>A (p.Leu379Gln)
c.734T>A (p.Leu245Gln)
c.983T>A (p.Leu328Gln)
c.1193T>A (p.Leu398Gln)
c.839T>A (p.Leu280Gln)
c.*1128T>A (n.*1128T>A)
c.1112T>A (p.Leu371Gln)
c.1133T>A (p.Leu378Gln)
c.1340T>A (p.Leu447Gln)
c.1115T>A (p.Leu372Gln)
c.1337T>A (p.Leu446Gln)
c.1321+317T>A (n.1321+317T>A)
c.1187T>A (p.Leu396Gln)
c.980T>A (p.Leu327Gln)
c.767T>A (p.Leu256Gln)
n.1005T>A
Xg.154564337T>CCA415219189IKBKGc.1100T>C (p.Leu367Pro)
c.1136T>C (p.Leu379Pro)
c.734T>C (p.Leu245Pro)
c.983T>C (p.Leu328Pro)
c.1193T>C (p.Leu398Pro)
c.839T>C (p.Leu280Pro)
c.*1128T>C (n.*1128T>C)
c.1112T>C (p.Leu371Pro)
c.1133T>C (p.Leu378Pro)
c.1340T>C (p.Leu447Pro)
c.1115T>C (p.Leu372Pro)
c.1337T>C (p.Leu446Pro)
c.1321+317T>C (n.1321+317T>C)
c.1187T>C (p.Leu396Pro)
c.980T>C (p.Leu327Pro)
c.767T>C (p.Leu256Pro)
n.1005T>C
Xg.154564337T>GCA415219195IKBKGc.1100T>G (p.Leu367Arg)
c.1136T>G (p.Leu379Arg)
c.734T>G (p.Leu245Arg)
c.983T>G (p.Leu328Arg)
c.1193T>G (p.Leu398Arg)
c.839T>G (p.Leu280Arg)
c.*1128T>G (n.*1128T>G)
c.1112T>G (p.Leu371Arg)
c.1133T>G (p.Leu378Arg)
c.1340T>G (p.Leu447Arg)
c.1115T>G (p.Leu372Arg)
c.1337T>G (p.Leu446Arg)
c.1321+317T>G (n.1321+317T>G)
c.1187T>G (p.Leu396Arg)
c.980T>G (p.Leu327Arg)
c.767T>G (p.Leu256Arg)
n.1005T>G
Xg.154564337_154564338delCA2573119318IKBKGc.1100_1101del (p.Leu367ArgfsTer15)
c.1136_1137del (p.Leu379ArgfsTer15)
c.734_735del (p.Leu245ArgfsTer15)
c.983_984del (p.Leu328ArgfsTer15)
c.1193_1194del (p.Leu398ArgfsTer15)
c.839_840del (p.Leu280ArgfsTer15)
c.*1128_*1129del (n.*1128_*1129del)
c.1112_1113del (p.Leu371ArgfsTer15)
c.1133_1134del (p.Leu378ArgfsTer15)
c.1340_1341del (p.Leu447ArgfsTer15)
c.1115_1116del (p.Leu372ArgfsTer15)
c.1337_1338del (p.Leu446ArgfsTer15)
c.1321+317_1321+318del (n.1321+317_1321+318del)
c.1187_1188del (p.Leu396ArgfsTer15)
c.980_981del (p.Leu327ArgfsTer15)
c.767_768del (p.Leu256ArgfsTer15)
n.1005_1006del
Xg.154564338G>ACA519287126IKBKGc.1101G>A (p.Leu367=)
c.1137G>A (p.Leu379=)
c.735G>A (p.Leu245=)
c.984G>A (p.Leu328=)
c.1194G>A (p.Leu398=)
c.840G>A (p.Leu280=)
c.*1129G>A (n.*1129G>A)
c.1113G>A (p.Leu371=)
c.1134G>A (p.Leu378=)
c.1341G>A (p.Leu447=)
c.1116G>A (p.Leu372=)
c.1338G>A (p.Leu446=)
c.1321+318G>A (n.1321+318G>A)
c.1188G>A (p.Leu396=)
c.981G>A (p.Leu327=)
c.768G>A (p.Leu256=)
n.1006G>A
Xg.154564338G>CCA519287127IKBKGc.1101G>C (p.Leu367=)
c.1137G>C (p.Leu379=)
c.735G>C (p.Leu245=)
c.984G>C (p.Leu328=)
c.1194G>C (p.Leu398=)
c.840G>C (p.Leu280=)
c.*1129G>C (n.*1129G>C)
c.1113G>C (p.Leu371=)
c.1134G>C (p.Leu378=)
c.1341G>C (p.Leu447=)
c.1116G>C (p.Leu372=)
c.1338G>C (p.Leu446=)
c.1321+318G>C (n.1321+318G>C)
c.1188G>C (p.Leu396=)
c.981G>C (p.Leu327=)
c.768G>C (p.Leu256=)
n.1006G>C
Xg.154564338G>TCA519287128IKBKGc.1101G>T (p.Leu367=)
c.1137G>T (p.Leu379=)
c.735G>T (p.Leu245=)
c.984G>T (p.Leu328=)
c.1194G>T (p.Leu398=)
c.840G>T (p.Leu280=)
c.*1129G>T (n.*1129G>T)
c.1113G>T (p.Leu371=)
c.1134G>T (p.Leu378=)
c.1341G>T (p.Leu447=)
c.1116G>T (p.Leu372=)
c.1338G>T (p.Leu446=)
c.1321+318G>T (n.1321+318G>T)
c.1188G>T (p.Leu396=)
c.981G>T (p.Leu327=)
c.768G>T (p.Leu256=)
n.1006G>T
Xg.154564339G>ACA415219198IKBKGc.1102G>A (p.Ala368Thr)
c.1138G>A (p.Ala380Thr)
c.736G>A (p.Ala246Thr)
c.985G>A (p.Ala329Thr)
c.1195G>A (p.Ala399Thr)
c.841G>A (p.Ala281Thr)
c.*1130G>A (n.*1130G>A)
c.1114G>A (p.Ala372Thr)
c.1135G>A (p.Ala379Thr)
c.1342G>A (p.Ala448Thr)
c.1117G>A (p.Ala373Thr)
c.1339G>A (p.Ala447Thr)
c.1321+319G>A (n.1321+319G>A)
c.1189G>A (p.Ala397Thr)
c.982G>A (p.Ala328Thr)
c.769G>A (p.Ala257Thr)
n.1007G>A
Xg.154564339G>CCA415219216IKBKGc.1102G>C (p.Ala368Pro)
c.1138G>C (p.Ala380Pro)
c.736G>C (p.Ala246Pro)
c.985G>C (p.Ala329Pro)
c.1195G>C (p.Ala399Pro)
c.841G>C (p.Ala281Pro)
c.*1130G>C (n.*1130G>C)
c.1114G>C (p.Ala372Pro)
c.1135G>C (p.Ala379Pro)
c.1342G>C (p.Ala448Pro)
c.1117G>C (p.Ala373Pro)
c.1339G>C (p.Ala447Pro)
c.1321+319G>C (n.1321+319G>C)
c.1189G>C (p.Ala397Pro)
c.982G>C (p.Ala328Pro)
c.769G>C (p.Ala257Pro)
n.1007G>C
Xg.154564339G>TCA415219202IKBKGc.1102G>T (p.Ala368Ser)
c.1138G>T (p.Ala380Ser)
c.736G>T (p.Ala246Ser)
c.985G>T (p.Ala329Ser)
c.1195G>T (p.Ala399Ser)
c.841G>T (p.Ala281Ser)
c.*1130G>T (n.*1130G>T)
c.1114G>T (p.Ala372Ser)
c.1135G>T (p.Ala379Ser)
c.1342G>T (p.Ala448Ser)
c.1117G>T (p.Ala373Ser)
c.1339G>T (p.Ala447Ser)
c.1321+319G>T (n.1321+319G>T)
c.1189G>T (p.Ala397Ser)
c.982G>T (p.Ala328Ser)
c.769G>T (p.Ala257Ser)
n.1007G>T
Xg.154564340C>ACA415219220IKBKGc.1103C>A (p.Ala368Asp)
c.1139C>A (p.Ala380Asp)
c.737C>A (p.Ala246Asp)
c.986C>A (p.Ala329Asp)
c.1196C>A (p.Ala399Asp)
c.842C>A (p.Ala281Asp)
c.*1131C>A (n.*1131C>A)
c.1115C>A (p.Ala372Asp)
c.1136C>A (p.Ala379Asp)
c.1343C>A (p.Ala448Asp)
c.1118C>A (p.Ala373Asp)
c.1340C>A (p.Ala447Asp)
c.1321+320C>A (n.1321+320C>A)
c.1190C>A (p.Ala397Asp)
c.983C>A (p.Ala328Asp)
c.770C>A (p.Ala257Asp)
n.1008C>A
Xg.154564340C=CA2466734031IKBKGc.1103C= (p.Ala368=)
c.1139C= (p.Ala380=)
c.737C= (p.Ala246=)
c.986C= (p.Ala329=)
c.1196C= (p.Ala399=)
c.842C= (p.Ala281=)
c.*1131C= (n.*1131C=)
c.1115C= (p.Ala372=)
c.1136C= (p.Ala379=)
c.1343C= (p.Ala448=)
c.1118C= (p.Ala373=)
c.1340C= (p.Ala447=)
c.1321+320C= (n.1321+320C=)
c.1190C= (p.Ala397=)
c.983C= (p.Ala328=)
c.770C= (p.Ala257=)
n.1008C=
Xg.154564340C>GCA415219224IKBKGc.1103C>G (p.Ala368Gly)
c.1139C>G (p.Ala380Gly)
c.737C>G (p.Ala246Gly)
c.986C>G (p.Ala329Gly)
c.1196C>G (p.Ala399Gly)
c.842C>G (p.Ala281Gly)
c.*1131C>G (n.*1131C>G)
c.1115C>G (p.Ala372Gly)
c.1136C>G (p.Ala379Gly)
c.1343C>G (p.Ala448Gly)
c.1118C>G (p.Ala373Gly)
c.1340C>G (p.Ala447Gly)
c.1321+320C>G (n.1321+320C>G)
c.1190C>G (p.Ala397Gly)
c.983C>G (p.Ala328Gly)
c.770C>G (p.Ala257Gly)
n.1008C>G
ClinVar dbSNP gnomAD v2
Xg.154564340C>TCA415219228IKBKGc.1103C>T (p.Ala368Val)
c.1139C>T (p.Ala380Val)
c.737C>T (p.Ala246Val)
c.986C>T (p.Ala329Val)
c.1196C>T (p.Ala399Val)
c.842C>T (p.Ala281Val)
c.*1131C>T (n.*1131C>T)
c.1115C>T (p.Ala372Val)
c.1136C>T (p.Ala379Val)
c.1343C>T (p.Ala448Val)
c.1118C>T (p.Ala373Val)
c.1340C>T (p.Ala447Val)
c.1321+320C>T (n.1321+320C>T)
c.1190C>T (p.Ala397Val)
c.983C>T (p.Ala328Val)
c.770C>T (p.Ala257Val)
n.1008C>T
Xg.154564341C>ACA519287132IKBKGc.1104C>A (p.Ala368=)
c.1140C>A (p.Ala380=)
c.738C>A (p.Ala246=)
c.987C>A (p.Ala329=)
c.1197C>A (p.Ala399=)
c.843C>A (p.Ala281=)
c.*1132C>A (n.*1132C>A)
c.1116C>A (p.Ala372=)
c.1137C>A (p.Ala379=)
c.1344C>A (p.Ala448=)
c.1119C>A (p.Ala373=)
c.1341C>A (p.Ala447=)
c.1321+321C>A (n.1321+321C>A)
c.1191C>A (p.Ala397=)
c.984C>A (p.Ala328=)
c.771C>A (p.Ala257=)
n.1009C>A
Xg.154564341C>GCA519287133IKBKGc.1104C>G (p.Ala368=)
c.1140C>G (p.Ala380=)
c.738C>G (p.Ala246=)
c.987C>G (p.Ala329=)
c.1197C>G (p.Ala399=)
c.843C>G (p.Ala281=)
c.*1132C>G (n.*1132C>G)
c.1116C>G (p.Ala372=)
c.1137C>G (p.Ala379=)
c.1344C>G (p.Ala448=)
c.1119C>G (p.Ala373=)
c.1341C>G (p.Ala447=)
c.1321+321C>G (n.1321+321C>G)
c.1191C>G (p.Ala397=)
c.984C>G (p.Ala328=)
c.771C>G (p.Ala257=)
n.1009C>G
Xg.154564341C>TCA519287134IKBKGc.1104C>T (p.Ala368=)
c.1140C>T (p.Ala380=)
c.738C>T (p.Ala246=)
c.987C>T (p.Ala329=)
c.1197C>T (p.Ala399=)
c.843C>T (p.Ala281=)
c.*1132C>T (n.*1132C>T)
c.1116C>T (p.Ala372=)
c.1137C>T (p.Ala379=)
c.1344C>T (p.Ala448=)
c.1119C>T (p.Ala373=)
c.1341C>T (p.Ala447=)
c.1321+321C>T (n.1321+321C>T)
c.1191C>T (p.Ala397=)
c.984C>T (p.Ala328=)
c.771C>T (p.Ala257=)
n.1009C>T
Xg.154564342C>ACA415219234IKBKGc.1105C>A (p.Leu369Met)
c.1141C>A (p.Leu381Met)
c.739C>A (p.Leu247Met)
c.988C>A (p.Leu330Met)
c.1198C>A (p.Leu400Met)
c.844C>A (p.Leu282Met)
c.*1133C>A (n.*1133C>A)
c.1117C>A (p.Leu373Met)
c.1138C>A (p.Leu380Met)
c.1345C>A (p.Leu449Met)
c.1120C>A (p.Leu374Met)
c.1342C>A (p.Leu448Met)
c.1321+322C>A (n.1321+322C>A)
c.1192C>A (p.Leu398Met)
c.985C>A (p.Leu329Met)
c.772C>A (p.Leu258Met)
n.1010C>A
Xg.154564342C>GCA415219240IKBKGc.1105C>G (p.Leu369Val)
c.1141C>G (p.Leu381Val)
c.739C>G (p.Leu247Val)
c.988C>G (p.Leu330Val)
c.1198C>G (p.Leu400Val)
c.844C>G (p.Leu282Val)
c.*1133C>G (n.*1133C>G)
c.1117C>G (p.Leu373Val)
c.1138C>G (p.Leu380Val)
c.1345C>G (p.Leu449Val)
c.1120C>G (p.Leu374Val)
c.1342C>G (p.Leu448Val)
c.1321+322C>G (n.1321+322C>G)
c.1192C>G (p.Leu398Val)
c.985C>G (p.Leu329Val)
c.772C>G (p.Leu258Val)
n.1010C>G
Xg.154564342C>TCA519287135IKBKGc.1105C>T (p.Leu369=)
c.1141C>T (p.Leu381=)
c.739C>T (p.Leu247=)
c.988C>T (p.Leu330=)
c.1198C>T (p.Leu400=)
c.844C>T (p.Leu282=)
c.*1133C>T (n.*1133C>T)
c.1117C>T (p.Leu373=)
c.1138C>T (p.Leu380=)
c.1345C>T (p.Leu449=)
c.1120C>T (p.Leu374=)
c.1342C>T (p.Leu448=)
c.1321+322C>T (n.1321+322C>T)
c.1192C>T (p.Leu398=)
c.985C>T (p.Leu329=)
c.772C>T (p.Leu258=)
n.1010C>T
Xg.154564343T>ACA415219248IKBKGc.1106T>A (p.Leu369Gln)
c.1142T>A (p.Leu381Gln)
c.740T>A (p.Leu247Gln)
c.989T>A (p.Leu330Gln)
c.1199T>A (p.Leu400Gln)
c.845T>A (p.Leu282Gln)
c.*1134T>A (n.*1134T>A)
c.1118T>A (p.Leu373Gln)
c.1139T>A (p.Leu380Gln)
c.1346T>A (p.Leu449Gln)
c.1121T>A (p.Leu374Gln)
c.1343T>A (p.Leu448Gln)
c.1321+323T>A (n.1321+323T>A)
c.1193T>A (p.Leu398Gln)
c.986T>A (p.Leu329Gln)
c.773T>A (p.Leu258Gln)
n.1011T>A
Xg.154564343T>CCA415219251IKBKGc.1106T>C (p.Leu369Pro)
c.1142T>C (p.Leu381Pro)
c.740T>C (p.Leu247Pro)
c.989T>C (p.Leu330Pro)
c.1199T>C (p.Leu400Pro)
c.845T>C (p.Leu282Pro)
c.*1134T>C (n.*1134T>C)
c.1118T>C (p.Leu373Pro)
c.1139T>C (p.Leu380Pro)
c.1346T>C (p.Leu449Pro)
c.1121T>C (p.Leu374Pro)
c.1343T>C (p.Leu448Pro)
c.1321+323T>C (n.1321+323T>C)
c.1193T>C (p.Leu398Pro)
c.986T>C (p.Leu329Pro)
c.773T>C (p.Leu258Pro)
n.1011T>C
Xg.154564343T>GCA415219262IKBKGc.1106T>G (p.Leu369Arg)
c.1142T>G (p.Leu381Arg)
c.740T>G (p.Leu247Arg)
c.989T>G (p.Leu330Arg)
c.1199T>G (p.Leu400Arg)
c.845T>G (p.Leu282Arg)
c.*1134T>G (n.*1134T>G)
c.1118T>G (p.Leu373Arg)
c.1139T>G (p.Leu380Arg)
c.1346T>G (p.Leu449Arg)
c.1121T>G (p.Leu374Arg)
c.1343T>G (p.Leu448Arg)
c.1321+323T>G (n.1321+323T>G)
c.1193T>G (p.Leu398Arg)
c.986T>G (p.Leu329Arg)
c.773T>G (p.Leu258Arg)
n.1011T>G
Xg.154564344G>ACA519287141IKBKGc.1107G>A (p.Leu369=)
c.1143G>A (p.Leu381=)
c.741G>A (p.Leu247=)
c.990G>A (p.Leu330=)
c.1200G>A (p.Leu400=)
c.846G>A (p.Leu282=)
c.*1135G>A (n.*1135G>A)
c.1119G>A (p.Leu373=)
c.1140G>A (p.Leu380=)
c.1347G>A (p.Leu449=)
c.1122G>A (p.Leu374=)
c.1344G>A (p.Leu448=)
c.1321+324G>A (n.1321+324G>A)
c.1194G>A (p.Leu398=)
c.987G>A (p.Leu329=)
c.774G>A (p.Leu258=)
n.1012G>A
Xg.154564344G>CCA519287139IKBKGc.1107G>C (p.Leu369=)
c.1143G>C (p.Leu381=)
c.741G>C (p.Leu247=)
c.990G>C (p.Leu330=)
c.1200G>C (p.Leu400=)
c.846G>C (p.Leu282=)
c.*1135G>C (n.*1135G>C)
c.1119G>C (p.Leu373=)
c.1140G>C (p.Leu380=)
c.1347G>C (p.Leu449=)
c.1122G>C (p.Leu374=)
c.1344G>C (p.Leu448=)
c.1321+324G>C (n.1321+324G>C)
c.1194G>C (p.Leu398=)
c.987G>C (p.Leu329=)
c.774G>C (p.Leu258=)
n.1012G>C
Xg.154564344G>TCA519287138IKBKGc.1107G>T (p.Leu369=)
c.1143G>T (p.Leu381=)
c.741G>T (p.Leu247=)
c.990G>T (p.Leu330=)
c.1200G>T (p.Leu400=)
c.846G>T (p.Leu282=)
c.*1135G>T (n.*1135G>T)
c.1119G>T (p.Leu373=)
c.1140G>T (p.Leu380=)
c.1347G>T (p.Leu449=)
c.1122G>T (p.Leu374=)
c.1344G>T (p.Leu448=)
c.1321+324G>T (n.1321+324G>T)
c.1194G>T (p.Leu398=)
c.987G>T (p.Leu329=)
c.774G>T (p.Leu258=)
n.1012G>T
Xg.154564345C>ACA415219279IKBKGc.1108C>A (p.Pro370Thr)
c.1144C>A (p.Pro382Thr)
c.742C>A (p.Pro248Thr)
c.991C>A (p.Pro331Thr)
c.1201C>A (p.Pro401Thr)
c.847C>A (p.Pro283Thr)
c.*1136C>A (n.*1136C>A)
c.1120C>A (p.Pro374Thr)
c.1141C>A (p.Pro381Thr)
c.1348C>A (p.Pro450Thr)
c.1123C>A (p.Pro375Thr)
c.1345C>A (p.Pro449Thr)
c.1321+325C>A (n.1321+325C>A)
c.1195C>A (p.Pro399Thr)
c.988C>A (p.Pro330Thr)
c.775C>A (p.Pro259Thr)
n.1013C>A
Xg.154564345C=CA2466734032IKBKGc.1108C= (p.Pro370=)
c.1144C= (p.Pro382=)
c.742C= (p.Pro248=)
c.991C= (p.Pro331=)
c.1201C= (p.Pro401=)
c.847C= (p.Pro283=)
c.*1136C= (n.*1136C=)
c.1120C= (p.Pro374=)
c.1141C= (p.Pro381=)
c.1348C= (p.Pro450=)
c.1123C= (p.Pro375=)
c.1345C= (p.Pro449=)
c.1321+325C= (n.1321+325C=)
c.1195C= (p.Pro399=)
c.988C= (p.Pro330=)
c.775C= (p.Pro259=)
n.1013C=
Xg.154564345C>GCA415219270IKBKGc.1108C>G (p.Pro370Ala)
c.1144C>G (p.Pro382Ala)
c.742C>G (p.Pro248Ala)
c.991C>G (p.Pro331Ala)
c.1201C>G (p.Pro401Ala)
c.847C>G (p.Pro283Ala)
c.*1136C>G (n.*1136C>G)
c.1120C>G (p.Pro374Ala)
c.1141C>G (p.Pro381Ala)
c.1348C>G (p.Pro450Ala)
c.1123C>G (p.Pro375Ala)
c.1345C>G (p.Pro449Ala)
c.1321+325C>G (n.1321+325C>G)
c.1195C>G (p.Pro399Ala)
c.988C>G (p.Pro330Ala)
c.775C>G (p.Pro259Ala)
n.1013C>G
Xg.154564345C>TCA415219267IKBKGc.1108C>T (p.Pro370Ser)
c.1144C>T (p.Pro382Ser)
c.742C>T (p.Pro248Ser)
c.991C>T (p.Pro331Ser)
c.1201C>T (p.Pro401Ser)
c.847C>T (p.Pro283Ser)
c.*1136C>T (n.*1136C>T)
c.1120C>T (p.Pro374Ser)
c.1141C>T (p.Pro381Ser)
c.1348C>T (p.Pro450Ser)
c.1123C>T (p.Pro375Ser)
c.1345C>T (p.Pro449Ser)
c.1321+325C>T (n.1321+325C>T)
c.1195C>T (p.Pro399Ser)
c.988C>T (p.Pro330Ser)
c.775C>T (p.Pro259Ser)
n.1013C>T
dbSNP gnomAD v2
Xg.154564346C>ACA415219284IKBKGc.1109C>A (p.Pro370His)
c.1145C>A (p.Pro382His)
c.743C>A (p.Pro248His)
c.992C>A (p.Pro331His)
c.1202C>A (p.Pro401His)
c.848C>A (p.Pro283His)
c.*1137C>A (n.*1137C>A)
c.1121C>A (p.Pro374His)
c.1142C>A (p.Pro381His)
c.1349C>A (p.Pro450His)
c.1124C>A (p.Pro375His)
c.1346C>A (p.Pro449His)
c.1321+326C>A (n.1321+326C>A)
c.1196C>A (p.Pro399His)
c.989C>A (p.Pro330His)
c.776C>A (p.Pro259His)
n.1014C>A
Xg.154564346C>GCA415219289IKBKGc.1109C>G (p.Pro370Arg)
c.1145C>G (p.Pro382Arg)
c.743C>G (p.Pro248Arg)
c.992C>G (p.Pro331Arg)
c.1202C>G (p.Pro401Arg)
c.848C>G (p.Pro283Arg)
c.*1137C>G (n.*1137C>G)
c.1121C>G (p.Pro374Arg)
c.1142C>G (p.Pro381Arg)
c.1349C>G (p.Pro450Arg)
c.1124C>G (p.Pro375Arg)
c.1346C>G (p.Pro449Arg)
c.1321+326C>G (n.1321+326C>G)
c.1196C>G (p.Pro399Arg)
c.989C>G (p.Pro330Arg)
c.776C>G (p.Pro259Arg)
n.1014C>G
Xg.154564346C>TCA415219290IKBKGc.1109C>T (p.Pro370Leu)
c.1145C>T (p.Pro382Leu)
c.743C>T (p.Pro248Leu)
c.992C>T (p.Pro331Leu)
c.1202C>T (p.Pro401Leu)
c.848C>T (p.Pro283Leu)
c.*1137C>T (n.*1137C>T)
c.1121C>T (p.Pro374Leu)
c.1142C>T (p.Pro381Leu)
c.1349C>T (p.Pro450Leu)
c.1124C>T (p.Pro375Leu)
c.1346C>T (p.Pro449Leu)
c.1321+326C>T (n.1321+326C>T)
c.1196C>T (p.Pro399Leu)
c.989C>T (p.Pro330Leu)
c.776C>T (p.Pro259Leu)
n.1014C>T
Xg.154564347C>ACA519287146IKBKGc.1110C>A (p.Pro370=)
c.1146C>A (p.Pro382=)
c.744C>A (p.Pro248=)
c.993C>A (p.Pro331=)
c.1203C>A (p.Pro401=)
c.849C>A (p.Pro283=)
c.*1138C>A (n.*1138C>A)
c.1122C>A (p.Pro374=)
c.1143C>A (p.Pro381=)
c.1350C>A (p.Pro450=)
c.1125C>A (p.Pro375=)
c.1347C>A (p.Pro449=)
c.1321+327C>A (n.1321+327C>A)
c.1197C>A (p.Pro399=)
c.990C>A (p.Pro330=)
c.777C>A (p.Pro259=)
n.1015C>A
Xg.154564347C>GCA519287147IKBKGc.1110C>G (p.Pro370=)
c.1146C>G (p.Pro382=)
c.744C>G (p.Pro248=)
c.993C>G (p.Pro331=)
c.1203C>G (p.Pro401=)
c.849C>G (p.Pro283=)
c.*1138C>G (n.*1138C>G)
c.1122C>G (p.Pro374=)
c.1143C>G (p.Pro381=)
c.1350C>G (p.Pro450=)
c.1125C>G (p.Pro375=)
c.1347C>G (p.Pro449=)
c.1321+327C>G (n.1321+327C>G)
c.1197C>G (p.Pro399=)
c.990C>G (p.Pro330=)
c.777C>G (p.Pro259=)
n.1015C>G
Xg.154564347C>TCA519287148IKBKGc.1110C>T (p.Pro370=)
c.1146C>T (p.Pro382=)
c.744C>T (p.Pro248=)
c.993C>T (p.Pro331=)
c.1203C>T (p.Pro401=)
c.849C>T (p.Pro283=)
c.*1138C>T (n.*1138C>T)
c.1122C>T (p.Pro374=)
c.1143C>T (p.Pro381=)
c.1350C>T (p.Pro450=)
c.1125C>T (p.Pro375=)
c.1347C>T (p.Pro449=)
c.1321+327C>T (n.1321+327C>T)
c.1197C>T (p.Pro399=)
c.990C>T (p.Pro330=)
c.777C>T (p.Pro259=)
n.1015C>T
Xg.154564348A>CCA415219291IKBKGc.1111A>C (p.Ser371Arg)
c.1147A>C (p.Ser383Arg)
c.745A>C (p.Ser249Arg)
c.994A>C (p.Ser332Arg)
c.1204A>C (p.Ser402Arg)
c.850A>C (p.Ser284Arg)
c.*1139A>C (n.*1139A>C)
c.1123A>C (p.Ser375Arg)
c.1144A>C (p.Ser382Arg)
c.1351A>C (p.Ser451Arg)
c.1126A>C (p.Ser376Arg)
c.1348A>C (p.Ser450Arg)
c.1321+328A>C (n.1321+328A>C)
c.1198A>C (p.Ser400Arg)
c.991A>C (p.Ser331Arg)
c.778A>C (p.Ser260Arg)
n.1016A>C
Xg.154564348A>GCA415219292IKBKGc.1111A>G (p.Ser371Gly)
c.1147A>G (p.Ser383Gly)
c.745A>G (p.Ser249Gly)
c.994A>G (p.Ser332Gly)
c.1204A>G (p.Ser402Gly)
c.850A>G (p.Ser284Gly)
c.*1139A>G (n.*1139A>G)
c.1123A>G (p.Ser375Gly)
c.1144A>G (p.Ser382Gly)
c.1351A>G (p.Ser451Gly)
c.1126A>G (p.Ser376Gly)
c.1348A>G (p.Ser450Gly)
c.1321+328A>G (n.1321+328A>G)
c.1198A>G (p.Ser400Gly)
c.991A>G (p.Ser331Gly)
c.778A>G (p.Ser260Gly)
n.1016A>G
Xg.154564348A>TCA415219293IKBKGc.1111A>T (p.Ser371Cys)
c.1147A>T (p.Ser383Cys)
c.745A>T (p.Ser249Cys)
c.994A>T (p.Ser332Cys)
c.1204A>T (p.Ser402Cys)
c.850A>T (p.Ser284Cys)
c.*1139A>T (n.*1139A>T)
c.1123A>T (p.Ser375Cys)
c.1144A>T (p.Ser382Cys)
c.1351A>T (p.Ser451Cys)
c.1126A>T (p.Ser376Cys)
c.1348A>T (p.Ser450Cys)
c.1321+328A>T (n.1321+328A>T)
c.1198A>T (p.Ser400Cys)
c.991A>T (p.Ser331Cys)
c.778A>T (p.Ser260Cys)
n.1016A>T
Xg.154564349G>ACA415219297IKBKGc.1112G>A (p.Ser371Asn)
c.1148G>A (p.Ser383Asn)
c.746G>A (p.Ser249Asn)
c.995G>A (p.Ser332Asn)
c.1205G>A (p.Ser402Asn)
c.851G>A (p.Ser284Asn)
c.*1140G>A (n.*1140G>A)
c.1124G>A (p.Ser375Asn)
c.1145G>A (p.Ser382Asn)
c.1352G>A (p.Ser451Asn)
c.1127G>A (p.Ser376Asn)
c.1349G>A (p.Ser450Asn)
c.1321+329G>A (n.1321+329G>A)
c.1199G>A (p.Ser400Asn)
c.992G>A (p.Ser331Asn)
c.779G>A (p.Ser260Asn)
n.1017G>A
Xg.154564349G>CCA415219302IKBKGc.1112G>C (p.Ser371Thr)
c.1148G>C (p.Ser383Thr)
c.746G>C (p.Ser249Thr)
c.995G>C (p.Ser332Thr)
c.1205G>C (p.Ser402Thr)
c.851G>C (p.Ser284Thr)
c.*1140G>C (n.*1140G>C)
c.1124G>C (p.Ser375Thr)
c.1145G>C (p.Ser382Thr)
c.1352G>C (p.Ser451Thr)
c.1127G>C (p.Ser376Thr)
c.1349G>C (p.Ser450Thr)
c.1321+329G>C (n.1321+329G>C)
c.1199G>C (p.Ser400Thr)
c.992G>C (p.Ser331Thr)
c.779G>C (p.Ser260Thr)
n.1017G>C
Xg.154564349G>TCA415219306IKBKGc.1112G>T (p.Ser371Ile)
c.1148G>T (p.Ser383Ile)
c.746G>T (p.Ser249Ile)
c.995G>T (p.Ser332Ile)
c.1205G>T (p.Ser402Ile)
c.851G>T (p.Ser284Ile)
c.*1140G>T (n.*1140G>T)
c.1124G>T (p.Ser375Ile)
c.1145G>T (p.Ser382Ile)
c.1352G>T (p.Ser451Ile)
c.1127G>T (p.Ser376Ile)
c.1349G>T (p.Ser450Ile)
c.1321+329G>T (n.1321+329G>T)
c.1199G>T (p.Ser400Ile)
c.992G>T (p.Ser331Ile)
c.779G>T (p.Ser260Ile)
n.1017G>T
Xg.154564350C>ACA415219308IKBKGc.1113C>A (p.Ser371Arg)
c.1149C>A (p.Ser383Arg)
c.747C>A (p.Ser249Arg)
c.996C>A (p.Ser332Arg)
c.1206C>A (p.Ser402Arg)
c.852C>A (p.Ser284Arg)
c.*1141C>A (n.*1141C>A)
c.1125C>A (p.Ser375Arg)
c.1146C>A (p.Ser382Arg)
c.1353C>A (p.Ser451Arg)
c.1128C>A (p.Ser376Arg)
c.1350C>A (p.Ser450Arg)
c.1321+330C>A (n.1321+330C>A)
c.1200C>A (p.Ser400Arg)
c.993C>A (p.Ser331Arg)
c.780C>A (p.Ser260Arg)
n.1018C>A
Xg.154564350C>GCA415219312IKBKGc.1113C>G (p.Ser371Arg)
c.1149C>G (p.Ser383Arg)
c.747C>G (p.Ser249Arg)
c.996C>G (p.Ser332Arg)
c.1206C>G (p.Ser402Arg)
c.852C>G (p.Ser284Arg)
c.*1141C>G (n.*1141C>G)
c.1125C>G (p.Ser375Arg)
c.1146C>G (p.Ser382Arg)
c.1353C>G (p.Ser451Arg)
c.1128C>G (p.Ser376Arg)
c.1350C>G (p.Ser450Arg)
c.1321+330C>G (n.1321+330C>G)
c.1200C>G (p.Ser400Arg)
c.993C>G (p.Ser331Arg)
c.780C>G (p.Ser260Arg)
n.1018C>G
Xg.154564350C>TCA519287149IKBKGc.1113C>T (p.Ser371=)
c.1149C>T (p.Ser383=)
c.747C>T (p.Ser249=)
c.996C>T (p.Ser332=)
c.1206C>T (p.Ser402=)
c.852C>T (p.Ser284=)
c.*1141C>T (n.*1141C>T)
c.1125C>T (p.Ser375=)
c.1146C>T (p.Ser382=)
c.1353C>T (p.Ser451=)
c.1128C>T (p.Ser376=)
c.1350C>T (p.Ser450=)
c.1321+330C>T (n.1321+330C>T)
c.1200C>T (p.Ser400=)
c.993C>T (p.Ser331=)
c.780C>T (p.Ser260=)
n.1018C>T
Xg.154564351C>ACA415219331IKBKGc.1114C>A (p.Gln372Lys)
c.1150C>A (p.Gln384Lys)
c.748C>A (p.Gln250Lys)
c.997C>A (p.Gln333Lys)
c.1207C>A (p.Gln403Lys)
c.853C>A (p.Gln285Lys)
c.*1142C>A (n.*1142C>A)
c.1126C>A (p.Gln376Lys)
c.1147C>A (p.Gln383Lys)
c.1354C>A (p.Gln452Lys)
c.1129C>A (p.Gln377Lys)
c.1351C>A (p.Gln451Lys)
c.1321+331C>A (n.1321+331C>A)
c.1201C>A (p.Gln401Lys)
c.994C>A (p.Gln332Lys)
c.781C>A (p.Gln261Lys)
n.1019C>A
Xg.154564351C>GCA415219317IKBKGc.1114C>G (p.Gln372Glu)
c.1150C>G (p.Gln384Glu)
c.748C>G (p.Gln250Glu)
c.997C>G (p.Gln333Glu)
c.1207C>G (p.Gln403Glu)
c.853C>G (p.Gln285Glu)
c.*1142C>G (n.*1142C>G)
c.1126C>G (p.Gln376Glu)
c.1147C>G (p.Gln383Glu)
c.1354C>G (p.Gln452Glu)
c.1129C>G (p.Gln377Glu)
c.1351C>G (p.Gln451Glu)
c.1321+331C>G (n.1321+331C>G)
c.1201C>G (p.Gln401Glu)
c.994C>G (p.Gln332Glu)
c.781C>G (p.Gln261Glu)
n.1019C>G
Xg.154564351C>TCA415219320IKBKGc.1114C>T (p.Gln372Ter)
c.1150C>T (p.Gln384Ter)
c.748C>T (p.Gln250Ter)
c.997C>T (p.Gln333Ter)
c.1207C>T (p.Gln403Ter)
c.853C>T (p.Gln285Ter)
c.*1142C>T (n.*1142C>T)
c.1126C>T (p.Gln376Ter)
c.1147C>T (p.Gln383Ter)
c.1354C>T (p.Gln452Ter)
c.1129C>T (p.Gln377Ter)
c.1351C>T (p.Gln451Ter)
c.1321+331C>T (n.1321+331C>T)
c.1201C>T (p.Gln401Ter)
c.994C>T (p.Gln332Ter)
c.781C>T (p.Gln261Ter)
n.1019C>T
Xg.154564352A>CCA415219339IKBKGc.1115A>C (p.Gln372Pro)
c.1151A>C (p.Gln384Pro)
c.749A>C (p.Gln250Pro)
c.998A>C (p.Gln333Pro)
c.1208A>C (p.Gln403Pro)
c.854A>C (p.Gln285Pro)
c.*1143A>C (n.*1143A>C)
c.1127A>C (p.Gln376Pro)
c.1148A>C (p.Gln383Pro)
c.1355A>C (p.Gln452Pro)
c.1130A>C (p.Gln377Pro)
c.1352A>C (p.Gln451Pro)
c.1321+332A>C (n.1321+332A>C)
c.1202A>C (p.Gln401Pro)
c.995A>C (p.Gln332Pro)
c.782A>C (p.Gln261Pro)
n.1020A>C
Xg.154564352A>GCA415219358IKBKGc.1115A>G (p.Gln372Arg)
c.1151A>G (p.Gln384Arg)
c.749A>G (p.Gln250Arg)
c.998A>G (p.Gln333Arg)
c.1208A>G (p.Gln403Arg)
c.854A>G (p.Gln285Arg)
c.*1143A>G (n.*1143A>G)
c.1127A>G (p.Gln376Arg)
c.1148A>G (p.Gln383Arg)
c.1355A>G (p.Gln452Arg)
c.1130A>G (p.Gln377Arg)
c.1352A>G (p.Gln451Arg)
c.1321+332A>G (n.1321+332A>G)
c.1202A>G (p.Gln401Arg)
c.995A>G (p.Gln332Arg)
c.782A>G (p.Gln261Arg)
n.1020A>G
Xg.154564352A>TCA415219362IKBKGc.1115A>T (p.Gln372Leu)
c.1151A>T (p.Gln384Leu)
c.749A>T (p.Gln250Leu)
c.998A>T (p.Gln333Leu)
c.1208A>T (p.Gln403Leu)
c.854A>T (p.Gln285Leu)
c.*1143A>T (n.*1143A>T)
c.1127A>T (p.Gln376Leu)
c.1148A>T (p.Gln383Leu)
c.1355A>T (p.Gln452Leu)
c.1130A>T (p.Gln377Leu)
c.1352A>T (p.Gln451Leu)
c.1321+332A>T (n.1321+332A>T)
c.1202A>T (p.Gln401Leu)
c.995A>T (p.Gln332Leu)
c.782A>T (p.Gln261Leu)
n.1020A>T
Xg.154564353G>ACA519287152IKBKGc.1116G>A (p.Gln372=)
c.1152G>A (p.Gln384=)
c.750G>A (p.Gln250=)
c.999G>A (p.Gln333=)
c.1209G>A (p.Gln403=)
c.855G>A (p.Gln285=)
c.*1144G>A (n.*1144G>A)
c.1128G>A (p.Gln376=)
c.1149G>A (p.Gln383=)
c.1356G>A (p.Gln452=)
c.1131G>A (p.Gln377=)
c.1353G>A (p.Gln451=)
c.1321+333G>A (n.1321+333G>A)
c.1203G>A (p.Gln401=)
c.996G>A (p.Gln332=)
c.783G>A (p.Gln261=)
n.1021G>A
Xg.154564353G>CCA415219365IKBKGc.1116G>C (p.Gln372His)
c.1152G>C (p.Gln384His)
c.750G>C (p.Gln250His)
c.999G>C (p.Gln333His)
c.1209G>C (p.Gln403His)
c.855G>C (p.Gln285His)
c.*1144G>C (n.*1144G>C)
c.1128G>C (p.Gln376His)
c.1149G>C (p.Gln383His)
c.1356G>C (p.Gln452His)
c.1131G>C (p.Gln377His)
c.1353G>C (p.Gln451His)
c.1321+333G>C (n.1321+333G>C)
c.1203G>C (p.Gln401His)
c.996G>C (p.Gln332His)
c.783G>C (p.Gln261His)
n.1021G>C
Xg.154564353G>TCA415219367IKBKGc.1116G>T (p.Gln372His)
c.1152G>T (p.Gln384His)
c.750G>T (p.Gln250His)
c.999G>T (p.Gln333His)
c.1209G>T (p.Gln403His)
c.855G>T (p.Gln285His)
c.*1144G>T (n.*1144G>T)
c.1128G>T (p.Gln376His)
c.1149G>T (p.Gln383His)
c.1356G>T (p.Gln452His)
c.1131G>T (p.Gln377His)
c.1353G>T (p.Gln451His)
c.1321+333G>T (n.1321+333G>T)
c.1203G>T (p.Gln401His)
c.996G>T (p.Gln332His)
c.783G>T (p.Gln261His)
n.1021G>T
Xg.154564354A>CCA519287153IKBKGc.1117A>C (p.Arg373=)
c.1153A>C (p.Arg385=)
c.751A>C (p.Arg251=)
c.1000A>C (p.Arg334=)
c.1210A>C (p.Arg404=)
c.856A>C (p.Arg286=)
c.*1145A>C (n.*1145A>C)
c.1129A>C (p.Arg377=)
c.1150A>C (p.Arg384=)
c.1357A>C (p.Arg453=)
c.1132A>C (p.Arg378=)
c.1354A>C (p.Arg452=)
c.1321+334A>C (n.1321+334A>C)
c.1204A>C (p.Arg402=)
c.997A>C (p.Arg333=)
c.784A>C (p.Arg262=)
n.1022A>C
Xg.154564354A>GCA415219372IKBKGc.1117A>G (p.Arg373Gly)
c.1153A>G (p.Arg385Gly)
c.751A>G (p.Arg251Gly)
c.1000A>G (p.Arg334Gly)
c.1210A>G (p.Arg404Gly)
c.856A>G (p.Arg286Gly)
c.*1145A>G (n.*1145A>G)
c.1129A>G (p.Arg377Gly)
c.1150A>G (p.Arg384Gly)
c.1357A>G (p.Arg453Gly)
c.1132A>G (p.Arg378Gly)
c.1354A>G (p.Arg452Gly)
c.1321+334A>G (n.1321+334A>G)
c.1204A>G (p.Arg402Gly)
c.997A>G (p.Arg333Gly)
c.784A>G (p.Arg262Gly)
n.1022A>G
Xg.154564354A>TCA415219373IKBKGc.1117A>T (p.Arg373Trp)
c.1153A>T (p.Arg385Trp)
c.751A>T (p.Arg251Trp)
c.1000A>T (p.Arg334Trp)
c.1210A>T (p.Arg404Trp)
c.856A>T (p.Arg286Trp)
c.*1145A>T (n.*1145A>T)
c.1129A>T (p.Arg377Trp)
c.1150A>T (p.Arg384Trp)
c.1357A>T (p.Arg453Trp)
c.1132A>T (p.Arg378Trp)
c.1354A>T (p.Arg452Trp)
c.1321+334A>T (n.1321+334A>T)
c.1204A>T (p.Arg402Trp)
c.997A>T (p.Arg333Trp)
c.784A>T (p.Arg262Trp)
n.1022A>T
Xg.154564355G>ACA415219374IKBKGc.1118G>A (p.Arg373Lys)
c.1154G>A (p.Arg385Lys)
c.752G>A (p.Arg251Lys)
c.1001G>A (p.Arg334Lys)
c.1211G>A (p.Arg404Lys)
c.857G>A (p.Arg286Lys)
c.*1146G>A (n.*1146G>A)
c.1130G>A (p.Arg377Lys)
c.1151G>A (p.Arg384Lys)
c.1358G>A (p.Arg453Lys)
c.1133G>A (p.Arg378Lys)
c.1355G>A (p.Arg452Lys)
c.1321+335G>A (n.1321+335G>A)
c.1205G>A (p.Arg402Lys)
c.998G>A (p.Arg333Lys)
c.785G>A (p.Arg262Lys)
n.1023G>A
Xg.154564355G>CCA415219375IKBKGc.1118G>C (p.Arg373Thr)
c.1154G>C (p.Arg385Thr)
c.752G>C (p.Arg251Thr)
c.1001G>C (p.Arg334Thr)
c.1211G>C (p.Arg404Thr)
c.857G>C (p.Arg286Thr)
c.*1146G>C (n.*1146G>C)
c.1130G>C (p.Arg377Thr)
c.1151G>C (p.Arg384Thr)
c.1358G>C (p.Arg453Thr)
c.1133G>C (p.Arg378Thr)
c.1355G>C (p.Arg452Thr)
c.1321+335G>C (n.1321+335G>C)
c.1205G>C (p.Arg402Thr)
c.998G>C (p.Arg333Thr)
c.785G>C (p.Arg262Thr)
n.1023G>C
dbSNP gnomAD v2
Xg.154564355G=CA2466734033IKBKGc.1118G= (p.Arg373=)
c.1154G= (p.Arg385=)
c.752G= (p.Arg251=)
c.1001G= (p.Arg334=)
c.1211G= (p.Arg404=)
c.857G= (p.Arg286=)
c.*1146G= (n.*1146G=)
c.1130G= (p.Arg377=)
c.1151G= (p.Arg384=)
c.1358G= (p.Arg453=)
c.1133G= (p.Arg378=)
c.1355G= (p.Arg452=)
c.1321+335G= (n.1321+335G=)
c.1205G= (p.Arg402=)
c.998G= (p.Arg333=)
c.785G= (p.Arg262=)
n.1023G=
Xg.154564355G>TCA415219376IKBKGc.1118G>T (p.Arg373Met)
c.1154G>T (p.Arg385Met)
c.752G>T (p.Arg251Met)
c.1001G>T (p.Arg334Met)
c.1211G>T (p.Arg404Met)
c.857G>T (p.Arg286Met)
c.*1146G>T (n.*1146G>T)
c.1130G>T (p.Arg377Met)
c.1151G>T (p.Arg384Met)
c.1358G>T (p.Arg453Met)
c.1133G>T (p.Arg378Met)
c.1355G>T (p.Arg452Met)
c.1321+335G>T (n.1321+335G>T)
c.1205G>T (p.Arg402Met)
c.998G>T (p.Arg333Met)
c.785G>T (p.Arg262Met)
n.1023G>T
Xg.154564356G>ACA519287155IKBKGc.1119G>A (p.Arg373=)
c.1155G>A (p.Arg385=)
c.753G>A (p.Arg251=)
c.1002G>A (p.Arg334=)
c.1212G>A (p.Arg404=)
c.858G>A (p.Arg286=)
c.*1147G>A (n.*1147G>A)
c.1131G>A (p.Arg377=)
c.1152G>A (p.Arg384=)
c.1359G>A (p.Arg453=)
c.1134G>A (p.Arg378=)
c.1356G>A (p.Arg452=)
c.1321+336G>A (n.1321+336G>A)
c.1206G>A (p.Arg402=)
c.999G>A (p.Arg333=)
c.786G>A (p.Arg262=)
n.1024G>A
Xg.154564356G>CCA415219381IKBKGc.1119G>C (p.Arg373Ser)
c.1155G>C (p.Arg385Ser)
c.753G>C (p.Arg251Ser)
c.1002G>C (p.Arg334Ser)
c.1212G>C (p.Arg404Ser)
c.858G>C (p.Arg286Ser)
c.*1147G>C (n.*1147G>C)
c.1131G>C (p.Arg377Ser)
c.1152G>C (p.Arg384Ser)
c.1359G>C (p.Arg453Ser)
c.1134G>C (p.Arg378Ser)
c.1356G>C (p.Arg452Ser)
c.1321+336G>C (n.1321+336G>C)
c.1206G>C (p.Arg402Ser)
c.999G>C (p.Arg333Ser)
c.786G>C (p.Arg262Ser)
n.1024G>C
Xg.154564356G>TCA415219384IKBKGc.1119G>T (p.Arg373Ser)
c.1155G>T (p.Arg385Ser)
c.753G>T (p.Arg251Ser)
c.1002G>T (p.Arg334Ser)
c.1212G>T (p.Arg404Ser)
c.858G>T (p.Arg286Ser)
c.*1147G>T (n.*1147G>T)
c.1131G>T (p.Arg377Ser)
c.1152G>T (p.Arg384Ser)
c.1359G>T (p.Arg453Ser)
c.1134G>T (p.Arg378Ser)
c.1356G>T (p.Arg452Ser)
c.1321+336G>T (n.1321+336G>T)
c.1206G>T (p.Arg402Ser)
c.999G>T (p.Arg333Ser)
c.786G>T (p.Arg262Ser)
n.1024G>T
Xg.154564364_154564376delCA2695237093IKBKGc.1127_1139del (p.Pro376HisfsTer?)
c.1163_1175del (p.Pro388HisfsTer?)
c.761_773del (p.Pro254HisfsTer?)
c.1010_1022del (p.Pro337HisfsTer?)
c.1220_1232del (p.Pro407HisfsTer?)
c.866_878del (p.Pro289HisfsTer?)
c.*1155_*1167del (n.*1155_*1167del)
c.1139_1151del (p.Pro380HisfsTer?)
c.1160_1172del (p.Pro387HisfsTer?)
c.1367_1379del (p.Pro456HisfsTer?)
c.1142_1154del (p.Pro381HisfsTer?)
c.1364_1376del (p.Pro455HisfsTer?)
c.1321+344_1321+356del (n.1321+344_1321+356del)
c.1214_1226del (p.Pro405HisfsTer?)
c.1007_1019del (p.Pro336HisfsTer?)
c.794_806del (p.Pro265HisfsTer?)
n.1032_1044del
Xg.154564357A>CCA519287156IKBKGc.1120A>C (p.Arg374=)
c.1156A>C (p.Arg386=)
c.754A>C (p.Arg252=)
c.1003A>C (p.Arg335=)
c.1213A>C (p.Arg405=)
c.859A>C (p.Arg287=)
c.*1148A>C (n.*1148A>C)
c.1132A>C (p.Arg378=)
c.1153A>C (p.Arg385=)
c.1360A>C (p.Arg454=)
c.1135A>C (p.Arg379=)
c.1357A>C (p.Arg453=)
c.1321+337A>C (n.1321+337A>C)
c.1207A>C (p.Arg403=)
c.1000A>C (p.Arg334=)
c.787A>C (p.Arg263=)
n.1025A>C
Xg.154564357A>GCA415219388IKBKGc.1120A>G (p.Arg374Gly)
c.1156A>G (p.Arg386Gly)
c.754A>G (p.Arg252Gly)
c.1003A>G (p.Arg335Gly)
c.1213A>G (p.Arg405Gly)
c.859A>G (p.Arg287Gly)
c.*1148A>G (n.*1148A>G)
c.1132A>G (p.Arg378Gly)
c.1153A>G (p.Arg385Gly)
c.1360A>G (p.Arg454Gly)
c.1135A>G (p.Arg379Gly)
c.1357A>G (p.Arg453Gly)
c.1321+337A>G (n.1321+337A>G)
c.1207A>G (p.Arg403Gly)
c.1000A>G (p.Arg334Gly)
c.787A>G (p.Arg263Gly)
n.1025A>G
Xg.154564357A>TCA415219393IKBKGc.1120A>T (p.Arg374Trp)
c.1156A>T (p.Arg386Trp)
c.754A>T (p.Arg252Trp)
c.1003A>T (p.Arg335Trp)
c.1213A>T (p.Arg405Trp)
c.859A>T (p.Arg287Trp)
c.*1148A>T (n.*1148A>T)
c.1132A>T (p.Arg378Trp)
c.1153A>T (p.Arg385Trp)
c.1360A>T (p.Arg454Trp)
c.1135A>T (p.Arg379Trp)
c.1357A>T (p.Arg453Trp)
c.1321+337A>T (n.1321+337A>T)
c.1207A>T (p.Arg403Trp)
c.1000A>T (p.Arg334Trp)
c.787A>T (p.Arg263Trp)
n.1025A>T
Xg.154564358G>ACA415219395IKBKGc.1121G>A (p.Arg374Lys)
c.1157G>A (p.Arg386Lys)
c.755G>A (p.Arg252Lys)
c.1004G>A (p.Arg335Lys)
c.1214G>A (p.Arg405Lys)
c.860G>A (p.Arg287Lys)
c.*1149G>A (n.*1149G>A)
c.1133G>A (p.Arg378Lys)
c.1154G>A (p.Arg385Lys)
c.1361G>A (p.Arg454Lys)
c.1136G>A (p.Arg379Lys)
c.1358G>A (p.Arg453Lys)
c.1321+338G>A (n.1321+338G>A)
c.1208G>A (p.Arg403Lys)
c.1001G>A (p.Arg334Lys)
c.788G>A (p.Arg263Lys)
n.1026G>A
Xg.154564358G>CCA415219397IKBKGc.1121G>C (p.Arg374Thr)
c.1157G>C (p.Arg386Thr)
c.755G>C (p.Arg252Thr)
c.1004G>C (p.Arg335Thr)
c.1214G>C (p.Arg405Thr)
c.860G>C (p.Arg287Thr)
c.*1149G>C (n.*1149G>C)
c.1133G>C (p.Arg378Thr)
c.1154G>C (p.Arg385Thr)
c.1361G>C (p.Arg454Thr)
c.1136G>C (p.Arg379Thr)
c.1358G>C (p.Arg453Thr)
c.1321+338G>C (n.1321+338G>C)
c.1208G>C (p.Arg403Thr)
c.1001G>C (p.Arg334Thr)
c.788G>C (p.Arg263Thr)
n.1026G>C
Xg.154564358G>TCA415219399IKBKGc.1121G>T (p.Arg374Met)
c.1157G>T (p.Arg386Met)
c.755G>T (p.Arg252Met)
c.1004G>T (p.Arg335Met)
c.1214G>T (p.Arg405Met)
c.860G>T (p.Arg287Met)
c.*1149G>T (n.*1149G>T)
c.1133G>T (p.Arg378Met)
c.1154G>T (p.Arg385Met)
c.1361G>T (p.Arg454Met)
c.1136G>T (p.Arg379Met)
c.1358G>T (p.Arg453Met)
c.1321+338G>T (n.1321+338G>T)
c.1208G>T (p.Arg403Met)
c.1001G>T (p.Arg334Met)
c.788G>T (p.Arg263Met)
n.1026G>T
Xg.154564359G>ACA519287159IKBKGc.1122G>A (p.Arg374=)
c.1158G>A (p.Arg386=)
c.756G>A (p.Arg252=)
c.1005G>A (p.Arg335=)
c.1215G>A (p.Arg405=)
c.861G>A (p.Arg287=)
c.*1150G>A (n.*1150G>A)
c.1134G>A (p.Arg378=)
c.1155G>A (p.Arg385=)
c.1362G>A (p.Arg454=)
c.1137G>A (p.Arg379=)
c.1359G>A (p.Arg453=)
c.1321+339G>A (n.1321+339G>A)
c.1209G>A (p.Arg403=)
c.1002G>A (p.Arg334=)
c.789G>A (p.Arg263=)
n.1027G>A
Xg.154564359G>CCA415219402IKBKGc.1122G>C (p.Arg374Ser)
c.1158G>C (p.Arg386Ser)
c.756G>C (p.Arg252Ser)
c.1005G>C (p.Arg335Ser)
c.1215G>C (p.Arg405Ser)
c.861G>C (p.Arg287Ser)
c.*1150G>C (n.*1150G>C)
c.1134G>C (p.Arg378Ser)
c.1155G>C (p.Arg385Ser)
c.1362G>C (p.Arg454Ser)
c.1137G>C (p.Arg379Ser)
c.1359G>C (p.Arg453Ser)
c.1321+339G>C (n.1321+339G>C)
c.1209G>C (p.Arg403Ser)
c.1002G>C (p.Arg334Ser)
c.789G>C (p.Arg263Ser)
n.1027G>C
Xg.154564359G>TCA415219405IKBKGc.1122G>T (p.Arg374Ser)
c.1158G>T (p.Arg386Ser)
c.756G>T (p.Arg252Ser)
c.1005G>T (p.Arg335Ser)
c.1215G>T (p.Arg405Ser)
c.861G>T (p.Arg287Ser)
c.*1150G>T (n.*1150G>T)
c.1134G>T (p.Arg378Ser)
c.1155G>T (p.Arg385Ser)
c.1362G>T (p.Arg454Ser)
c.1137G>T (p.Arg379Ser)
c.1359G>T (p.Arg453Ser)
c.1321+339G>T (n.1321+339G>T)
c.1209G>T (p.Arg403Ser)
c.1002G>T (p.Arg334Ser)
c.789G>T (p.Arg263Ser)
n.1027G>T
Xg.154564360A>CCA415219410IKBKGc.1123A>C (p.Ser375Arg)
c.1159A>C (p.Ser387Arg)
c.757A>C (p.Ser253Arg)
c.1006A>C (p.Ser336Arg)
c.1216A>C (p.Ser406Arg)
c.862A>C (p.Ser288Arg)
c.*1151A>C (n.*1151A>C)
c.1135A>C (p.Ser379Arg)
c.1156A>C (p.Ser386Arg)
c.1363A>C (p.Ser455Arg)
c.1138A>C (p.Ser380Arg)
c.1360A>C (p.Ser454Arg)
c.1321+340A>C (n.1321+340A>C)
c.1210A>C (p.Ser404Arg)
c.1003A>C (p.Ser335Arg)
c.790A>C (p.Ser264Arg)
n.1028A>C
Xg.154564360A>GCA415219416IKBKGc.1123A>G (p.Ser375Gly)
c.1159A>G (p.Ser387Gly)
c.757A>G (p.Ser253Gly)
c.1006A>G (p.Ser336Gly)
c.1216A>G (p.Ser406Gly)
c.862A>G (p.Ser288Gly)
c.*1151A>G (n.*1151A>G)
c.1135A>G (p.Ser379Gly)
c.1156A>G (p.Ser386Gly)
c.1363A>G (p.Ser455Gly)
c.1138A>G (p.Ser380Gly)
c.1360A>G (p.Ser454Gly)
c.1321+340A>G (n.1321+340A>G)
c.1210A>G (p.Ser404Gly)
c.1003A>G (p.Ser335Gly)
c.790A>G (p.Ser264Gly)
n.1028A>G
Xg.154564360A>TCA415219424IKBKGc.1123A>T (p.Ser375Cys)
c.1159A>T (p.Ser387Cys)
c.757A>T (p.Ser253Cys)
c.1006A>T (p.Ser336Cys)
c.1216A>T (p.Ser406Cys)
c.862A>T (p.Ser288Cys)
c.*1151A>T (n.*1151A>T)
c.1135A>T (p.Ser379Cys)
c.1156A>T (p.Ser386Cys)
c.1363A>T (p.Ser455Cys)
c.1138A>T (p.Ser380Cys)
c.1360A>T (p.Ser454Cys)
c.1321+340A>T (n.1321+340A>T)
c.1210A>T (p.Ser404Cys)
c.1003A>T (p.Ser335Cys)
c.790A>T (p.Ser264Cys)
n.1028A>T
Xg.154564361G>ACA415219431IKBKGc.1124G>A (p.Ser375Asn)
c.1160G>A (p.Ser387Asn)
c.758G>A (p.Ser253Asn)
c.1007G>A (p.Ser336Asn)
c.1217G>A (p.Ser406Asn)
c.863G>A (p.Ser288Asn)
c.*1152G>A (n.*1152G>A)
c.1136G>A (p.Ser379Asn)
c.1157G>A (p.Ser386Asn)
c.1364G>A (p.Ser455Asn)
c.1139G>A (p.Ser380Asn)
c.1361G>A (p.Ser454Asn)
c.1321+341G>A (n.1321+341G>A)
c.1211G>A (p.Ser404Asn)
c.1004G>A (p.Ser335Asn)
c.791G>A (p.Ser264Asn)
n.1029G>A
Xg.154564361G>CCA415219444IKBKGc.1124G>C (p.Ser375Thr)
c.1160G>C (p.Ser387Thr)
c.758G>C (p.Ser253Thr)
c.1007G>C (p.Ser336Thr)
c.1217G>C (p.Ser406Thr)
c.863G>C (p.Ser288Thr)
c.*1152G>C (n.*1152G>C)
c.1136G>C (p.Ser379Thr)
c.1157G>C (p.Ser386Thr)
c.1364G>C (p.Ser455Thr)
c.1139G>C (p.Ser380Thr)
c.1361G>C (p.Ser454Thr)
c.1321+341G>C (n.1321+341G>C)
c.1211G>C (p.Ser404Thr)
c.1004G>C (p.Ser335Thr)
c.791G>C (p.Ser264Thr)
n.1029G>C
Xg.154564361G>TCA415219449IKBKGc.1124G>T (p.Ser375Ile)
c.1160G>T (p.Ser387Ile)
c.758G>T (p.Ser253Ile)
c.1007G>T (p.Ser336Ile)
c.1217G>T (p.Ser406Ile)
c.863G>T (p.Ser288Ile)
c.*1152G>T (n.*1152G>T)
c.1136G>T (p.Ser379Ile)
c.1157G>T (p.Ser386Ile)
c.1364G>T (p.Ser455Ile)
c.1139G>T (p.Ser380Ile)
c.1361G>T (p.Ser454Ile)
c.1321+341G>T (n.1321+341G>T)
c.1211G>T (p.Ser404Ile)
c.1004G>T (p.Ser335Ile)
c.791G>T (p.Ser264Ile)
n.1029G>T
Xg.154564361_154564362delinsGCCA2466734034IKBKGc.1124_1125delinsGC (p.Ser375=)
c.1160_1161delinsGC (p.Ser387=)
c.758_759delinsGC (p.Ser253=)
c.1007_1008delinsGC (p.Ser336=)
c.1217_1218delinsGC (p.Ser406=)
c.863_864delinsGC (p.Ser288=)
c.*1152_*1153delinsGC (n.*1152_*1153delinsGC)
c.1136_1137delinsGC (p.Ser379=)
c.1157_1158delinsGC (p.Ser386=)
c.1364_1365delinsGC (p.Ser455=)
c.1139_1140delinsGC (p.Ser380=)
c.1361_1362delinsGC (p.Ser454=)
c.1321+341_1321+342delinsGC (n.1321+341_1321+342delinsGC)
c.1211_1212delinsGC (p.Ser404=)
c.1004_1005delinsGC (p.Ser335=)
c.791_792delinsGC (p.Ser264=)
n.1029_1030delinsGC
Xg.154564362C>ACA415219455IKBKGc.1125C>A (p.Ser375Arg)
c.1161C>A (p.Ser387Arg)
c.759C>A (p.Ser253Arg)
c.1008C>A (p.Ser336Arg)
c.1218C>A (p.Ser406Arg)
c.864C>A (p.Ser288Arg)
c.*1153C>A (n.*1153C>A)
c.1137C>A (p.Ser379Arg)
c.1158C>A (p.Ser386Arg)
c.1365C>A (p.Ser455Arg)
c.1140C>A (p.Ser380Arg)
c.1362C>A (p.Ser454Arg)
c.1321+342C>A (n.1321+342C>A)
c.1212C>A (p.Ser404Arg)
c.1005C>A (p.Ser335Arg)
c.792C>A (p.Ser264Arg)
n.1030C>A
Xg.154564362C=CA2466734035IKBKGc.1125C= (p.Ser375=)
c.1161C= (p.Ser387=)
c.759C= (p.Ser253=)
c.1008C= (p.Ser336=)
c.1218C= (p.Ser406=)
c.864C= (p.Ser288=)
c.*1153C= (n.*1153C=)
c.1137C= (p.Ser379=)
c.1158C= (p.Ser386=)
c.1365C= (p.Ser455=)
c.1140C= (p.Ser380=)
c.1362C= (p.Ser454=)
c.1321+342C= (n.1321+342C=)
c.1212C= (p.Ser404=)
c.1005C= (p.Ser335=)
c.792C= (p.Ser264=)
n.1030C=
Xg.154564362C>GCA415219461IKBKGc.1125C>G (p.Ser375Arg)
c.1161C>G (p.Ser387Arg)
c.759C>G (p.Ser253Arg)
c.1008C>G (p.Ser336Arg)
c.1218C>G (p.Ser406Arg)
c.864C>G (p.Ser288Arg)
c.*1153C>G (n.*1153C>G)
c.1137C>G (p.Ser379Arg)
c.1158C>G (p.Ser386Arg)
c.1365C>G (p.Ser455Arg)
c.1140C>G (p.Ser380Arg)
c.1362C>G (p.Ser454Arg)
c.1321+342C>G (n.1321+342C>G)
c.1212C>G (p.Ser404Arg)
c.1005C>G (p.Ser335Arg)
c.792C>G (p.Ser264Arg)
n.1030C>G
Xg.154564362C>TCA519287161IKBKGc.1125C>T (p.Ser375=)
c.1161C>T (p.Ser387=)
c.759C>T (p.Ser253=)
c.1008C>T (p.Ser336=)
c.1218C>T (p.Ser406=)
c.864C>T (p.Ser288=)
c.*1153C>T (n.*1153C>T)
c.1137C>T (p.Ser379=)
c.1158C>T (p.Ser386=)
c.1365C>T (p.Ser455=)
c.1140C>T (p.Ser380=)
c.1362C>T (p.Ser454=)
c.1321+342C>T (n.1321+342C>T)
c.1212C>T (p.Ser404=)
c.1005C>T (p.Ser335=)
c.792C>T (p.Ser264=)
n.1030C>T
dbSNP gnomAD v2
Xg.154564368dupCA10566455IKBKGc.1131dup (p.Glu378ArgfsTer5)
c.1167dup (p.Glu390ArgfsTer5)
c.765dup (p.Glu256ArgfsTer5)
c.1014dup (p.Glu339ArgfsTer5)
c.1224dup (p.Glu409ArgfsTer5)
c.870dup (p.Glu291ArgfsTer5)
c.*1159dup (n.*1159dup)
c.1143dup (p.Glu382ArgfsTer5)
c.1164dup (p.Glu389ArgfsTer5)
c.1371dup (p.Glu458ArgfsTer5)
c.1146dup (p.Glu383ArgfsTer5)
c.1368dup (p.Glu457ArgfsTer5)
c.1321+348dup (n.1321+348dup)
c.1218dup (p.Glu407ArgfsTer5)
c.1011dup (p.Glu338ArgfsTer5)
c.798dup (p.Glu267ArgfsTer5)
n.1036dup
ClinVar dbSNP ExAC gnomAD v2
Xg.154564368delCA519287162IKBKGc.1131del (p.Glu378ArgfsTer?)
c.1167del (p.Glu390ArgfsTer?)
c.765del (p.Glu256ArgfsTer?)
c.1014del (p.Glu339ArgfsTer?)
c.1224del (p.Glu409ArgfsTer?)
c.870del (p.Glu291ArgfsTer?)
c.*1159del (n.*1159del)
c.1143del (p.Glu382ArgfsTer?)
c.1164del (p.Glu389ArgfsTer?)
c.1371del (p.Glu458ArgfsTer?)
c.1146del (p.Glu383ArgfsTer?)
c.1368del (p.Glu457ArgfsTer?)
c.1321+348del (n.1321+348del)
c.1218del (p.Glu407ArgfsTer?)
c.1011del (p.Glu338ArgfsTer?)
c.798del (p.Glu267ArgfsTer?)
n.1036del
ClinVar dbSNP
Xg.154564363C>ACA415219472IKBKGc.1126C>A (p.Pro376Thr)
c.1162C>A (p.Pro388Thr)
c.760C>A (p.Pro254Thr)
c.1009C>A (p.Pro337Thr)
c.1219C>A (p.Pro407Thr)
c.865C>A (p.Pro289Thr)
c.*1154C>A (n.*1154C>A)
c.1138C>A (p.Pro380Thr)
c.1159C>A (p.Pro387Thr)
c.1366C>A (p.Pro456Thr)
c.1141C>A (p.Pro381Thr)
c.1363C>A (p.Pro455Thr)
c.1321+343C>A (n.1321+343C>A)
c.1213C>A (p.Pro405Thr)
c.1006C>A (p.Pro336Thr)
c.793C>A (p.Pro265Thr)
n.1031C>A
Xg.154564363C>GCA415219475IKBKGc.1126C>G (p.Pro376Ala)
c.1162C>G (p.Pro388Ala)
c.760C>G (p.Pro254Ala)
c.1009C>G (p.Pro337Ala)
c.1219C>G (p.Pro407Ala)
c.865C>G (p.Pro289Ala)
c.*1154C>G (n.*1154C>G)
c.1138C>G (p.Pro380Ala)
c.1159C>G (p.Pro387Ala)
c.1366C>G (p.Pro456Ala)
c.1141C>G (p.Pro381Ala)
c.1363C>G (p.Pro455Ala)
c.1321+343C>G (n.1321+343C>G)
c.1213C>G (p.Pro405Ala)
c.1006C>G (p.Pro336Ala)
c.793C>G (p.Pro265Ala)
n.1031C>G
Xg.154564363C>TCA415219480IKBKGc.1126C>T (p.Pro376Ser)
c.1162C>T (p.Pro388Ser)
c.760C>T (p.Pro254Ser)
c.1009C>T (p.Pro337Ser)
c.1219C>T (p.Pro407Ser)
c.865C>T (p.Pro289Ser)
c.*1154C>T (n.*1154C>T)
c.1138C>T (p.Pro380Ser)
c.1159C>T (p.Pro387Ser)
c.1366C>T (p.Pro456Ser)
c.1141C>T (p.Pro381Ser)
c.1363C>T (p.Pro455Ser)
c.1321+343C>T (n.1321+343C>T)
c.1213C>T (p.Pro405Ser)
c.1006C>T (p.Pro336Ser)
c.793C>T (p.Pro265Ser)
n.1031C>T
Xg.154564364C>ACA415219484IKBKGc.1127C>A (p.Pro376His)
c.1163C>A (p.Pro388His)
c.761C>A (p.Pro254His)
c.1010C>A (p.Pro337His)
c.1220C>A (p.Pro407His)
c.866C>A (p.Pro289His)
c.*1155C>A (n.*1155C>A)
c.1139C>A (p.Pro380His)
c.1160C>A (p.Pro387His)
c.1367C>A (p.Pro456His)
c.1142C>A (p.Pro381His)
c.1364C>A (p.Pro455His)
c.1321+344C>A (n.1321+344C>A)
c.1214C>A (p.Pro405His)
c.1007C>A (p.Pro336His)
c.794C>A (p.Pro265His)
n.1032C>A
Xg.154564364C=CA2466734036IKBKGc.1127C= (p.Pro376=)
c.1163C= (p.Pro388=)
c.761C= (p.Pro254=)
c.1010C= (p.Pro337=)
c.1220C= (p.Pro407=)
c.866C= (p.Pro289=)
c.*1155C= (n.*1155C=)
c.1139C= (p.Pro380=)
c.1160C= (p.Pro387=)
c.1367C= (p.Pro456=)
c.1142C= (p.Pro381=)
c.1364C= (p.Pro455=)
c.1321+344C= (n.1321+344C=)
c.1214C= (p.Pro405=)
c.1007C= (p.Pro336=)
c.794C= (p.Pro265=)
n.1032C=
Xg.154564364C>GCA415219485IKBKGc.1127C>G (p.Pro376Arg)
c.1163C>G (p.Pro388Arg)
c.761C>G (p.Pro254Arg)
c.1010C>G (p.Pro337Arg)
c.1220C>G (p.Pro407Arg)
c.866C>G (p.Pro289Arg)
c.*1155C>G (n.*1155C>G)
c.1139C>G (p.Pro380Arg)
c.1160C>G (p.Pro387Arg)
c.1367C>G (p.Pro456Arg)
c.1142C>G (p.Pro381Arg)
c.1364C>G (p.Pro455Arg)
c.1321+344C>G (n.1321+344C>G)
c.1214C>G (p.Pro405Arg)
c.1007C>G (p.Pro336Arg)
c.794C>G (p.Pro265Arg)
n.1032C>G
Xg.154564364C>TCA415219487IKBKGc.1127C>T (p.Pro376Leu)
c.1163C>T (p.Pro388Leu)
c.761C>T (p.Pro254Leu)
c.1010C>T (p.Pro337Leu)
c.1220C>T (p.Pro407Leu)
c.866C>T (p.Pro289Leu)
c.*1155C>T (n.*1155C>T)
c.1139C>T (p.Pro380Leu)
c.1160C>T (p.Pro387Leu)
c.1367C>T (p.Pro456Leu)
c.1142C>T (p.Pro381Leu)
c.1364C>T (p.Pro455Leu)
c.1321+344C>T (n.1321+344C>T)
c.1214C>T (p.Pro405Leu)
c.1007C>T (p.Pro336Leu)
c.794C>T (p.Pro265Leu)
n.1032C>T
Xg.154564365C>ACA519287165IKBKGc.1128C>A (p.Pro376=)
c.1164C>A (p.Pro388=)
c.762C>A (p.Pro254=)
c.1011C>A (p.Pro337=)
c.1221C>A (p.Pro407=)
c.867C>A (p.Pro289=)
c.*1156C>A (n.*1156C>A)
c.1140C>A (p.Pro380=)
c.1161C>A (p.Pro387=)
c.1368C>A (p.Pro456=)
c.1143C>A (p.Pro381=)
c.1365C>A (p.Pro455=)
c.1321+345C>A (n.1321+345C>A)
c.1215C>A (p.Pro405=)
c.1008C>A (p.Pro336=)
c.795C>A (p.Pro265=)
n.1033C>A
Xg.154564365C>GCA519287166IKBKGc.1128C>G (p.Pro376=)
c.1164C>G (p.Pro388=)
c.762C>G (p.Pro254=)
c.1011C>G (p.Pro337=)
c.1221C>G (p.Pro407=)
c.867C>G (p.Pro289=)
c.*1156C>G (n.*1156C>G)
c.1140C>G (p.Pro380=)
c.1161C>G (p.Pro387=)
c.1368C>G (p.Pro456=)
c.1143C>G (p.Pro381=)
c.1365C>G (p.Pro455=)
c.1321+345C>G (n.1321+345C>G)
c.1215C>G (p.Pro405=)
c.1008C>G (p.Pro336=)
c.795C>G (p.Pro265=)
n.1033C>G
Xg.154564365C>TCA519287167IKBKGc.1128C>T (p.Pro376=)
c.1164C>T (p.Pro388=)
c.762C>T (p.Pro254=)
c.1011C>T (p.Pro337=)
c.1221C>T (p.Pro407=)
c.867C>T (p.Pro289=)
c.*1156C>T (n.*1156C>T)
c.1140C>T (p.Pro380=)
c.1161C>T (p.Pro387=)
c.1368C>T (p.Pro456=)
c.1143C>T (p.Pro381=)
c.1365C>T (p.Pro455=)
c.1321+345C>T (n.1321+345C>T)
c.1215C>T (p.Pro405=)
c.1008C>T (p.Pro336=)
c.795C>T (p.Pro265=)
n.1033C>T
Xg.154564367_154564379dupCA1139667925IKBKGc.1130_1142dup (p.Asp382ArgfsTer5)
c.1166_1178dup (p.Asp394ArgfsTer5)
c.764_776dup (p.Asp260ArgfsTer5)
c.1013_1025dup (p.Asp343ArgfsTer5)
c.1223_1235dup (p.Asp413ArgfsTer5)
c.869_881dup (p.Asp295ArgfsTer5)
c.*1158_*1170dup (n.*1158_*1170dup)
c.1142_1154dup (p.Asp386ArgfsTer5)
c.1163_1175dup (p.Asp393ArgfsTer5)
c.1370_1382dup (p.Asp462ArgfsTer5)
c.1145_1157dup (p.Asp387ArgfsTer5)
c.1367_1379dup (p.Asp461ArgfsTer5)
c.1321+347_1321+359dup (n.1321+347_1321+359dup)
c.1217_1229dup (p.Asp411ArgfsTer5)
c.1010_1022dup (p.Asp342ArgfsTer5)
c.797_809dup (p.Asp271ArgfsTer5)
n.1035_1047dup
ClinVar dbSNP
Xg.154564366C>ACA415219490IKBKGc.1129C>A (p.Pro377Thr)
c.1165C>A (p.Pro389Thr)
c.763C>A (p.Pro255Thr)
c.1012C>A (p.Pro338Thr)
c.1222C>A (p.Pro408Thr)
c.868C>A (p.Pro290Thr)
c.*1157C>A (n.*1157C>A)
c.1141C>A (p.Pro381Thr)
c.1162C>A (p.Pro388Thr)
c.1369C>A (p.Pro457Thr)
c.1144C>A (p.Pro382Thr)
c.1366C>A (p.Pro456Thr)
c.1321+346C>A (n.1321+346C>A)
c.1216C>A (p.Pro406Thr)
c.1009C>A (p.Pro337Thr)
c.796C>A (p.Pro266Thr)
n.1034C>A
Xg.154564366C>GCA415219493IKBKGc.1129C>G (p.Pro377Ala)
c.1165C>G (p.Pro389Ala)
c.763C>G (p.Pro255Ala)
c.1012C>G (p.Pro338Ala)
c.1222C>G (p.Pro408Ala)
c.868C>G (p.Pro290Ala)
c.*1157C>G (n.*1157C>G)
c.1141C>G (p.Pro381Ala)
c.1162C>G (p.Pro388Ala)
c.1369C>G (p.Pro457Ala)
c.1144C>G (p.Pro382Ala)
c.1366C>G (p.Pro456Ala)
c.1321+346C>G (n.1321+346C>G)
c.1216C>G (p.Pro406Ala)
c.1009C>G (p.Pro337Ala)
c.796C>G (p.Pro266Ala)
n.1034C>G
Xg.154564366C>TCA415219494IKBKGc.1129C>T (p.Pro377Ser)
c.1165C>T (p.Pro389Ser)
c.763C>T (p.Pro255Ser)
c.1012C>T (p.Pro338Ser)
c.1222C>T (p.Pro408Ser)
c.868C>T (p.Pro290Ser)
c.*1157C>T (n.*1157C>T)
c.1141C>T (p.Pro381Ser)
c.1162C>T (p.Pro388Ser)
c.1369C>T (p.Pro457Ser)
c.1144C>T (p.Pro382Ser)
c.1366C>T (p.Pro456Ser)
c.1321+346C>T (n.1321+346C>T)
c.1216C>T (p.Pro406Ser)
c.1009C>T (p.Pro337Ser)
c.796C>T (p.Pro266Ser)
n.1034C>T
Xg.154564367C>ACA415219501IKBKGc.1130C>A (p.Pro377His)
c.1166C>A (p.Pro389His)
c.764C>A (p.Pro255His)
c.1013C>A (p.Pro338His)
c.1223C>A (p.Pro408His)
c.869C>A (p.Pro290His)
c.*1158C>A (n.*1158C>A)
c.1142C>A (p.Pro381His)
c.1163C>A (p.Pro388His)
c.1370C>A (p.Pro457His)
c.1145C>A (p.Pro382His)
c.1367C>A (p.Pro456His)
c.1321+347C>A (n.1321+347C>A)
c.1217C>A (p.Pro406His)
c.1010C>A (p.Pro337His)
c.797C>A (p.Pro266His)
n.1035C>A
Xg.154564367C=CA2466734037IKBKGc.1130C= (p.Pro377=)
c.1166C= (p.Pro389=)
c.764C= (p.Pro255=)
c.1013C= (p.Pro338=)
c.1223C= (p.Pro408=)
c.869C= (p.Pro290=)
c.*1158C= (n.*1158C=)
c.1142C= (p.Pro381=)
c.1163C= (p.Pro388=)
c.1370C= (p.Pro457=)
c.1145C= (p.Pro382=)
c.1367C= (p.Pro456=)
c.1321+347C= (n.1321+347C=)
c.1217C= (p.Pro406=)
c.1010C= (p.Pro337=)
c.797C= (p.Pro266=)
n.1035C=
Xg.154564367C>GCA415219498IKBKGc.1130C>G (p.Pro377Arg)
c.1166C>G (p.Pro389Arg)
c.764C>G (p.Pro255Arg)
c.1013C>G (p.Pro338Arg)
c.1223C>G (p.Pro408Arg)
c.869C>G (p.Pro290Arg)
c.*1158C>G (n.*1158C>G)
c.1142C>G (p.Pro381Arg)
c.1163C>G (p.Pro388Arg)
c.1370C>G (p.Pro457Arg)
c.1145C>G (p.Pro382Arg)
c.1367C>G (p.Pro456Arg)
c.1321+347C>G (n.1321+347C>G)
c.1217C>G (p.Pro406Arg)
c.1010C>G (p.Pro337Arg)
c.797C>G (p.Pro266Arg)
n.1035C>G
Xg.154564367C>TCA10566456IKBKGc.1130C>T (p.Pro377Leu)
c.1166C>T (p.Pro389Leu)
c.764C>T (p.Pro255Leu)
c.1013C>T (p.Pro338Leu)
c.1223C>T (p.Pro408Leu)
c.869C>T (p.Pro290Leu)
c.*1158C>T (n.*1158C>T)
c.1142C>T (p.Pro381Leu)
c.1163C>T (p.Pro388Leu)
c.1370C>T (p.Pro457Leu)
c.1145C>T (p.Pro382Leu)
c.1367C>T (p.Pro456Leu)
c.1321+347C>T (n.1321+347C>T)
c.1217C>T (p.Pro406Leu)
c.1010C>T (p.Pro337Leu)
c.797C>T (p.Pro266Leu)
n.1035C>T
dbSNP ExAC gnomAD v2
Xg.154564368C>ACA519287169IKBKGc.1131C>A (p.Pro377=)
c.1167C>A (p.Pro389=)
c.765C>A (p.Pro255=)
c.1014C>A (p.Pro338=)
c.1224C>A (p.Pro408=)
c.870C>A (p.Pro290=)
c.*1159C>A (n.*1159C>A)
c.1143C>A (p.Pro381=)
c.1164C>A (p.Pro388=)
c.1371C>A (p.Pro457=)
c.1146C>A (p.Pro382=)
c.1368C>A (p.Pro456=)
c.1321+348C>A (n.1321+348C>A)
c.1218C>A (p.Pro406=)
c.1011C>A (p.Pro337=)
c.798C>A (p.Pro266=)
n.1036C>A
Xg.154564368C>GCA519287170IKBKGc.1131C>G (p.Pro377=)
c.1167C>G (p.Pro389=)
c.765C>G (p.Pro255=)
c.1014C>G (p.Pro338=)
c.1224C>G (p.Pro408=)
c.870C>G (p.Pro290=)
c.*1159C>G (n.*1159C>G)
c.1143C>G (p.Pro381=)
c.1164C>G (p.Pro388=)
c.1371C>G (p.Pro457=)
c.1146C>G (p.Pro382=)
c.1368C>G (p.Pro456=)
c.1321+348C>G (n.1321+348C>G)
c.1218C>G (p.Pro406=)
c.1011C>G (p.Pro337=)
c.798C>G (p.Pro266=)
n.1036C>G
Xg.154564368C>TCA519287171IKBKGc.1131C>T (p.Pro377=)
c.1167C>T (p.Pro389=)
c.765C>T (p.Pro255=)
c.1014C>T (p.Pro338=)
c.1224C>T (p.Pro408=)
c.870C>T (p.Pro290=)
c.*1159C>T (n.*1159C>T)
c.1143C>T (p.Pro381=)
c.1164C>T (p.Pro388=)
c.1371C>T (p.Pro457=)
c.1146C>T (p.Pro382=)
c.1368C>T (p.Pro456=)
c.1321+348C>T (n.1321+348C>T)
c.1218C>T (p.Pro406=)
c.1011C>T (p.Pro337=)
c.798C>T (p.Pro266=)
n.1036C>T
Xg.154564369G>ACA415219504IKBKGc.1132G>A (p.Glu378Lys)
c.1168G>A (p.Glu390Lys)
c.766G>A (p.Glu256Lys)
c.1015G>A (p.Glu339Lys)
c.1225G>A (p.Glu409Lys)
c.871G>A (p.Glu291Lys)
c.*1160G>A (n.*1160G>A)
c.1144G>A (p.Glu382Lys)
c.1165G>A (p.Glu389Lys)
c.1372G>A (p.Glu458Lys)
c.1147G>A (p.Glu383Lys)
c.1369G>A (p.Glu457Lys)
c.1321+349G>A (n.1321+349G>A)
c.1219G>A (p.Glu407Lys)
c.1012G>A (p.Glu338Lys)
c.799G>A (p.Glu267Lys)
n.1037G>A
Xg.154564369G>CCA415219505IKBKGc.1132G>C (p.Glu378Gln)
c.1168G>C (p.Glu390Gln)
c.766G>C (p.Glu256Gln)
c.1015G>C (p.Glu339Gln)
c.1225G>C (p.Glu409Gln)
c.871G>C (p.Glu291Gln)
c.*1160G>C (n.*1160G>C)
c.1144G>C (p.Glu382Gln)
c.1165G>C (p.Glu389Gln)
c.1372G>C (p.Glu458Gln)
c.1147G>C (p.Glu383Gln)
c.1369G>C (p.Glu457Gln)
c.1321+349G>C (n.1321+349G>C)
c.1219G>C (p.Glu407Gln)
c.1012G>C (p.Glu338Gln)
c.799G>C (p.Glu267Gln)
n.1037G>C
Xg.154564369G>TCA415219507IKBKGc.1132G>T (p.Glu378Ter)
c.1168G>T (p.Glu390Ter)
c.766G>T (p.Glu256Ter)
c.1015G>T (p.Glu339Ter)
c.1225G>T (p.Glu409Ter)
c.871G>T (p.Glu291Ter)
c.*1160G>T (n.*1160G>T)
c.1144G>T (p.Glu382Ter)
c.1165G>T (p.Glu389Ter)
c.1372G>T (p.Glu458Ter)
c.1147G>T (p.Glu383Ter)
c.1369G>T (p.Glu457Ter)
c.1321+349G>T (n.1321+349G>T)
c.1219G>T (p.Glu407Ter)
c.1012G>T (p.Glu338Ter)
c.799G>T (p.Glu267Ter)
n.1037G>T
Xg.154564370A>CCA415219511IKBKGc.1133A>C (p.Glu378Ala)
c.1169A>C (p.Glu390Ala)
c.767A>C (p.Glu256Ala)
c.1016A>C (p.Glu339Ala)
c.1226A>C (p.Glu409Ala)
c.872A>C (p.Glu291Ala)
c.*1161A>C (n.*1161A>C)
c.1145A>C (p.Glu382Ala)
c.1166A>C (p.Glu389Ala)
c.1373A>C (p.Glu458Ala)
c.1148A>C (p.Glu383Ala)
c.1370A>C (p.Glu457Ala)
c.1321+350A>C (n.1321+350A>C)
c.1220A>C (p.Glu407Ala)
c.1013A>C (p.Glu338Ala)
c.800A>C (p.Glu267Ala)
n.1038A>C
Xg.154564370A>GCA415219515IKBKGc.1133A>G (p.Glu378Gly)
c.1169A>G (p.Glu390Gly)
c.767A>G (p.Glu256Gly)
c.1016A>G (p.Glu339Gly)
c.1226A>G (p.Glu409Gly)
c.872A>G (p.Glu291Gly)
c.*1161A>G (n.*1161A>G)
c.1145A>G (p.Glu382Gly)
c.1166A>G (p.Glu389Gly)
c.1373A>G (p.Glu458Gly)
c.1148A>G (p.Glu383Gly)
c.1370A>G (p.Glu457Gly)
c.1321+350A>G (n.1321+350A>G)
c.1220A>G (p.Glu407Gly)
c.1013A>G (p.Glu338Gly)
c.800A>G (p.Glu267Gly)
n.1038A>G
Xg.154564370A>TCA415219516IKBKGc.1133A>T (p.Glu378Val)
c.1169A>T (p.Glu390Val)
c.767A>T (p.Glu256Val)
c.1016A>T (p.Glu339Val)
c.1226A>T (p.Glu409Val)
c.872A>T (p.Glu291Val)
c.*1161A>T (n.*1161A>T)
c.1145A>T (p.Glu382Val)
c.1166A>T (p.Glu389Val)
c.1373A>T (p.Glu458Val)
c.1148A>T (p.Glu383Val)
c.1370A>T (p.Glu457Val)
c.1321+350A>T (n.1321+350A>T)
c.1220A>T (p.Glu407Val)
c.1013A>T (p.Glu338Val)
c.800A>T (p.Glu267Val)
n.1038A>T
Xg.154564371G>ACA519287173IKBKGc.1134G>A (p.Glu378=)
c.1170G>A (p.Glu390=)
c.768G>A (p.Glu256=)
c.1017G>A (p.Glu339=)
c.1227G>A (p.Glu409=)
c.873G>A (p.Glu291=)
c.*1162G>A (n.*1162G>A)
c.1146G>A (p.Glu382=)
c.1167G>A (p.Glu389=)
c.1374G>A (p.Glu458=)
c.1149G>A (p.Glu383=)
c.1371G>A (p.Glu457=)
c.1321+351G>A (n.1321+351G>A)
c.1221G>A (p.Glu407=)
c.1014G>A (p.Glu338=)
c.801G>A (p.Glu267=)
n.1039G>A
Xg.154564371G>CCA415219517IKBKGc.1134G>C (p.Glu378Asp)
c.1170G>C (p.Glu390Asp)
c.768G>C (p.Glu256Asp)
c.1017G>C (p.Glu339Asp)
c.1227G>C (p.Glu409Asp)
c.873G>C (p.Glu291Asp)
c.*1162G>C (n.*1162G>C)
c.1146G>C (p.Glu382Asp)
c.1167G>C (p.Glu389Asp)
c.1374G>C (p.Glu458Asp)
c.1149G>C (p.Glu383Asp)
c.1371G>C (p.Glu457Asp)
c.1321+351G>C (n.1321+351G>C)
c.1221G>C (p.Glu407Asp)
c.1014G>C (p.Glu338Asp)
c.801G>C (p.Glu267Asp)
n.1039G>C
Xg.154564371G>TCA415219518IKBKGc.1134G>T (p.Glu378Asp)
c.1170G>T (p.Glu390Asp)
c.768G>T (p.Glu256Asp)
c.1017G>T (p.Glu339Asp)
c.1227G>T (p.Glu409Asp)
c.873G>T (p.Glu291Asp)
c.*1162G>T (n.*1162G>T)
c.1146G>T (p.Glu382Asp)
c.1167G>T (p.Glu389Asp)
c.1374G>T (p.Glu458Asp)
c.1149G>T (p.Glu383Asp)
c.1371G>T (p.Glu457Asp)
c.1321+351G>T (n.1321+351G>T)
c.1221G>T (p.Glu407Asp)
c.1014G>T (p.Glu338Asp)
c.801G>T (p.Glu267Asp)
n.1039G>T
Xg.154564372G>ACA415219519IKBKGc.1135G>A (p.Glu379Lys)
c.1171G>A (p.Glu391Lys)
c.769G>A (p.Glu257Lys)
c.1018G>A (p.Glu340Lys)
c.1228G>A (p.Glu410Lys)
c.874G>A (p.Glu292Lys)
c.*1163G>A (n.*1163G>A)
c.1147G>A (p.Glu383Lys)
c.1168G>A (p.Glu390Lys)
c.1375G>A (p.Glu459Lys)
c.1150G>A (p.Glu384Lys)
c.1372G>A (p.Glu458Lys)
c.1321+352G>A (n.1321+352G>A)
c.1222G>A (p.Glu408Lys)
c.1015G>A (p.Glu339Lys)
c.802G>A (p.Glu268Lys)
n.1040G>A
Xg.154564372G>CCA415219521IKBKGc.1135G>C (p.Glu379Gln)
c.1171G>C (p.Glu391Gln)
c.769G>C (p.Glu257Gln)
c.1018G>C (p.Glu340Gln)
c.1228G>C (p.Glu410Gln)
c.874G>C (p.Glu292Gln)
c.*1163G>C (n.*1163G>C)
c.1147G>C (p.Glu383Gln)
c.1168G>C (p.Glu390Gln)
c.1375G>C (p.Glu459Gln)
c.1150G>C (p.Glu384Gln)
c.1372G>C (p.Glu458Gln)
c.1321+352G>C (n.1321+352G>C)
c.1222G>C (p.Glu408Gln)
c.1015G>C (p.Glu339Gln)
c.802G>C (p.Glu268Gln)
n.1040G>C
Xg.154564372G=CA2466734039IKBKGc.1135G= (p.Glu379=)
c.1171G= (p.Glu391=)
c.769G= (p.Glu257=)
c.1018G= (p.Glu340=)
c.1228G= (p.Glu410=)
c.874G= (p.Glu292=)
c.*1163G= (n.*1163G=)
c.1147G= (p.Glu383=)
c.1168G= (p.Glu390=)
c.1375G= (p.Glu459=)
c.1150G= (p.Glu384=)
c.1372G= (p.Glu458=)
c.1321+352G= (n.1321+352G=)
c.1222G= (p.Glu408=)
c.1015G= (p.Glu339=)
c.802G= (p.Glu268=)
n.1040G=
Xg.154564372G>TCA121470IKBKGc.1135G>T (p.Glu379Ter)
c.1171G>T (p.Glu391Ter)
c.769G>T (p.Glu257Ter)
c.1018G>T (p.Glu340Ter)
c.1228G>T (p.Glu410Ter)
c.874G>T (p.Glu292Ter)
c.*1163G>T (n.*1163G>T)
c.1147G>T (p.Glu383Ter)
c.1168G>T (p.Glu390Ter)
c.1375G>T (p.Glu459Ter)
c.1150G>T (p.Glu384Ter)
c.1372G>T (p.Glu458Ter)
c.1321+352G>T (n.1321+352G>T)
c.1222G>T (p.Glu408Ter)
c.1015G>T (p.Glu339Ter)
c.802G>T (p.Glu268Ter)
n.1040G>T
ClinVar dbSNP
Xg.154564373A>CCA415219530IKBKGc.1136A>C (p.Glu379Ala)
c.1172A>C (p.Glu391Ala)
c.770A>C (p.Glu257Ala)
c.1019A>C (p.Glu340Ala)
c.1229A>C (p.Glu410Ala)
c.875A>C (p.Glu292Ala)
c.*1164A>C (n.*1164A>C)
c.1148A>C (p.Glu383Ala)
c.1169A>C (p.Glu390Ala)
c.1376A>C (p.Glu459Ala)
c.1151A>C (p.Glu384Ala)
c.1373A>C (p.Glu458Ala)
c.1321+353A>C (n.1321+353A>C)
c.1223A>C (p.Glu408Ala)
c.1016A>C (p.Glu339Ala)
c.803A>C (p.Glu268Ala)
n.1041A>C
Xg.154564373A>GCA415219525IKBKGc.1136A>G (p.Glu379Gly)
c.1172A>G (p.Glu391Gly)
c.770A>G (p.Glu257Gly)
c.1019A>G (p.Glu340Gly)
c.1229A>G (p.Glu410Gly)
c.875A>G (p.Glu292Gly)
c.*1164A>G (n.*1164A>G)
c.1148A>G (p.Glu383Gly)
c.1169A>G (p.Glu390Gly)
c.1376A>G (p.Glu459Gly)
c.1151A>G (p.Glu384Gly)
c.1373A>G (p.Glu458Gly)
c.1321+353A>G (n.1321+353A>G)
c.1223A>G (p.Glu408Gly)
c.1016A>G (p.Glu339Gly)
c.803A>G (p.Glu268Gly)
n.1041A>G
Xg.154564373A>TCA415219527IKBKGc.1136A>T (p.Glu379Val)
c.1172A>T (p.Glu391Val)
c.770A>T (p.Glu257Val)
c.1019A>T (p.Glu340Val)
c.1229A>T (p.Glu410Val)
c.875A>T (p.Glu292Val)
c.*1164A>T (n.*1164A>T)
c.1148A>T (p.Glu383Val)
c.1169A>T (p.Glu390Val)
c.1376A>T (p.Glu459Val)
c.1151A>T (p.Glu384Val)
c.1373A>T (p.Glu458Val)
c.1321+353A>T (n.1321+353A>T)
c.1223A>T (p.Glu408Val)
c.1016A>T (p.Glu339Val)
c.803A>T (p.Glu268Val)
n.1041A>T
Xg.154564374G>ACA519287177IKBKGc.1137G>A (p.Glu379=)
c.1173G>A (p.Glu391=)
c.771G>A (p.Glu257=)
c.1020G>A (p.Glu340=)
c.1230G>A (p.Glu410=)
c.876G>A (p.Glu292=)
c.*1165G>A (n.*1165G>A)
c.1149G>A (p.Glu383=)
c.1170G>A (p.Glu390=)
c.1377G>A (p.Glu459=)
c.1152G>A (p.Glu384=)
c.1374G>A (p.Glu458=)
c.1321+354G>A (n.1321+354G>A)
c.1224G>A (p.Glu408=)
c.1017G>A (p.Glu339=)
c.804G>A (p.Glu268=)
n.1042G>A
Xg.154564374G>CCA415219533IKBKGc.1137G>C (p.Glu379Asp)
c.1173G>C (p.Glu391Asp)
c.771G>C (p.Glu257Asp)
c.1020G>C (p.Glu340Asp)
c.1230G>C (p.Glu410Asp)
c.876G>C (p.Glu292Asp)
c.*1165G>C (n.*1165G>C)
c.1149G>C (p.Glu383Asp)
c.1170G>C (p.Glu390Asp)
c.1377G>C (p.Glu459Asp)
c.1152G>C (p.Glu384Asp)
c.1374G>C (p.Glu458Asp)
c.1321+354G>C (n.1321+354G>C)
c.1224G>C (p.Glu408Asp)
c.1017G>C (p.Glu339Asp)
c.804G>C (p.Glu268Asp)
n.1042G>C
Xg.154564374G>TCA415219551IKBKGc.1137G>T (p.Glu379Asp)
c.1173G>T (p.Glu391Asp)
c.771G>T (p.Glu257Asp)
c.1020G>T (p.Glu340Asp)
c.1230G>T (p.Glu410Asp)
c.876G>T (p.Glu292Asp)
c.*1165G>T (n.*1165G>T)
c.1149G>T (p.Glu383Asp)
c.1170G>T (p.Glu390Asp)
c.1377G>T (p.Glu459Asp)
c.1152G>T (p.Glu384Asp)
c.1374G>T (p.Glu458Asp)
c.1321+354G>T (n.1321+354G>T)
c.1224G>T (p.Glu408Asp)
c.1017G>T (p.Glu339Asp)
c.804G>T (p.Glu268Asp)
n.1042G>T
Xg.154564375C>ACA415219556IKBKGc.1138C>A (p.Pro380Thr)
c.1174C>A (p.Pro392Thr)
c.772C>A (p.Pro258Thr)
c.1021C>A (p.Pro341Thr)
c.1231C>A (p.Pro411Thr)
c.877C>A (p.Pro293Thr)
c.*1166C>A (n.*1166C>A)
c.1150C>A (p.Pro384Thr)
c.1171C>A (p.Pro391Thr)
c.1378C>A (p.Pro460Thr)
c.1153C>A (p.Pro385Thr)
c.1375C>A (p.Pro459Thr)
c.1321+355C>A (n.1321+355C>A)
c.1225C>A (p.Pro409Thr)
c.1018C>A (p.Pro340Thr)
c.805C>A (p.Pro269Thr)
n.1043C>A
Xg.154564375C=CA2466734042IKBKGc.1138C= (p.Pro380=)
c.1174C= (p.Pro392=)
c.772C= (p.Pro258=)
c.1021C= (p.Pro341=)
c.1231C= (p.Pro411=)
c.877C= (p.Pro293=)
c.*1166C= (n.*1166C=)
c.1150C= (p.Pro384=)
c.1171C= (p.Pro391=)
c.1378C= (p.Pro460=)
c.1153C= (p.Pro385=)
c.1375C= (p.Pro459=)
c.1321+355C= (n.1321+355C=)
c.1225C= (p.Pro409=)
c.1018C= (p.Pro340=)
c.805C= (p.Pro269=)
n.1043C=
Xg.154564375C>GCA415219558IKBKGc.1138C>G (p.Pro380Ala)
c.1174C>G (p.Pro392Ala)
c.772C>G (p.Pro258Ala)
c.1021C>G (p.Pro341Ala)
c.1231C>G (p.Pro411Ala)
c.877C>G (p.Pro293Ala)
c.*1166C>G (n.*1166C>G)
c.1150C>G (p.Pro384Ala)
c.1171C>G (p.Pro391Ala)
c.1378C>G (p.Pro460Ala)
c.1153C>G (p.Pro385Ala)
c.1375C>G (p.Pro459Ala)
c.1321+355C>G (n.1321+355C>G)
c.1225C>G (p.Pro409Ala)
c.1018C>G (p.Pro340Ala)
c.805C>G (p.Pro269Ala)
n.1043C>G
Xg.154564375C>TCA415219561IKBKGc.1138C>T (p.Pro380Ser)
c.1174C>T (p.Pro392Ser)
c.772C>T (p.Pro258Ser)
c.1021C>T (p.Pro341Ser)
c.1231C>T (p.Pro411Ser)
c.877C>T (p.Pro293Ser)
c.*1166C>T (n.*1166C>T)
c.1150C>T (p.Pro384Ser)
c.1171C>T (p.Pro391Ser)
c.1378C>T (p.Pro460Ser)
c.1153C>T (p.Pro385Ser)
c.1375C>T (p.Pro459Ser)
c.1321+355C>T (n.1321+355C>T)
c.1225C>T (p.Pro409Ser)
c.1018C>T (p.Pro340Ser)
c.805C>T (p.Pro269Ser)
n.1043C>T
dbSNP gnomAD v2
Xg.154564376C>ACA415219568IKBKGc.1139C>A (p.Pro380Gln)
c.1175C>A (p.Pro392Gln)
c.773C>A (p.Pro258Gln)
c.1022C>A (p.Pro341Gln)
c.1232C>A (p.Pro411Gln)
c.878C>A (p.Pro293Gln)
c.*1167C>A (n.*1167C>A)
c.1151C>A (p.Pro384Gln)
c.1172C>A (p.Pro391Gln)
c.1379C>A (p.Pro460Gln)
c.1154C>A (p.Pro385Gln)
c.1376C>A (p.Pro459Gln)
c.1321+356C>A (n.1321+356C>A)
c.1226C>A (p.Pro409Gln)
c.1019C>A (p.Pro340Gln)
c.806C>A (p.Pro269Gln)
n.1044C>A
Xg.154564376C>GCA415219569IKBKGc.1139C>G (p.Pro380Arg)
c.1175C>G (p.Pro392Arg)
c.773C>G (p.Pro258Arg)
c.1022C>G (p.Pro341Arg)
c.1232C>G (p.Pro411Arg)
c.878C>G (p.Pro293Arg)
c.*1167C>G (n.*1167C>G)
c.1151C>G (p.Pro384Arg)
c.1172C>G (p.Pro391Arg)
c.1379C>G (p.Pro460Arg)
c.1154C>G (p.Pro385Arg)
c.1376C>G (p.Pro459Arg)
c.1321+356C>G (n.1321+356C>G)
c.1226C>G (p.Pro409Arg)
c.1019C>G (p.Pro340Arg)
c.806C>G (p.Pro269Arg)
n.1044C>G
Xg.154564376C>TCA415219574IKBKGc.1139C>T (p.Pro380Leu)
c.1175C>T (p.Pro392Leu)
c.773C>T (p.Pro258Leu)
c.1022C>T (p.Pro341Leu)
c.1232C>T (p.Pro411Leu)
c.878C>T (p.Pro293Leu)
c.*1167C>T (n.*1167C>T)
c.1151C>T (p.Pro384Leu)
c.1172C>T (p.Pro391Leu)
c.1379C>T (p.Pro460Leu)
c.1154C>T (p.Pro385Leu)
c.1376C>T (p.Pro459Leu)
c.1321+356C>T (n.1321+356C>T)
c.1226C>T (p.Pro409Leu)
c.1019C>T (p.Pro340Leu)
c.806C>T (p.Pro269Leu)
n.1044C>T
Xg.154564377A>CCA519287179IKBKGc.1140A>C (p.Pro380=)
c.1176A>C (p.Pro392=)
c.774A>C (p.Pro258=)
c.1023A>C (p.Pro341=)
c.1233A>C (p.Pro411=)
c.879A>C (p.Pro293=)
c.*1168A>C (n.*1168A>C)
c.1152A>C (p.Pro384=)
c.1173A>C (p.Pro391=)
c.1380A>C (p.Pro460=)
c.1155A>C (p.Pro385=)
c.1377A>C (p.Pro459=)
c.1321+357A>C (n.1321+357A>C)
c.1227A>C (p.Pro409=)
c.1020A>C (p.Pro340=)
c.807A>C (p.Pro269=)
n.1045A>C
Xg.154564377A>GCA519287180IKBKGc.1140A>G (p.Pro380=)
c.1176A>G (p.Pro392=)
c.774A>G (p.Pro258=)
c.1023A>G (p.Pro341=)
c.1233A>G (p.Pro411=)
c.879A>G (p.Pro293=)
c.*1168A>G (n.*1168A>G)
c.1152A>G (p.Pro384=)
c.1173A>G (p.Pro391=)
c.1380A>G (p.Pro460=)
c.1155A>G (p.Pro385=)
c.1377A>G (p.Pro459=)
c.1321+357A>G (n.1321+357A>G)
c.1227A>G (p.Pro409=)
c.1020A>G (p.Pro340=)
c.807A>G (p.Pro269=)
n.1045A>G
Xg.154564377A>TCA519287181IKBKGc.1140A>T (p.Pro380=)
c.1176A>T (p.Pro392=)
c.774A>T (p.Pro258=)
c.1023A>T (p.Pro341=)
c.1233A>T (p.Pro411=)
c.879A>T (p.Pro293=)
c.*1168A>T (n.*1168A>T)
c.1152A>T (p.Pro384=)
c.1173A>T (p.Pro391=)
c.1380A>T (p.Pro460=)
c.1155A>T (p.Pro385=)
c.1377A>T (p.Pro459=)
c.1321+357A>T (n.1321+357A>T)
c.1227A>T (p.Pro409=)
c.1020A>T (p.Pro340=)
c.807A>T (p.Pro269=)
n.1045A>T
Xg.154564378C>ACA415219578IKBKGc.1141C>A (p.Pro381Thr)
c.1177C>A (p.Pro393Thr)
c.775C>A (p.Pro259Thr)
c.1024C>A (p.Pro342Thr)
c.1234C>A (p.Pro412Thr)
c.880C>A (p.Pro294Thr)
c.*1169C>A (n.*1169C>A)
c.1153C>A (p.Pro385Thr)
c.1174C>A (p.Pro392Thr)
c.1381C>A (p.Pro461Thr)
c.1156C>A (p.Pro386Thr)
c.1378C>A (p.Pro460Thr)
c.1321+358C>A (n.1321+358C>A)
c.1228C>A (p.Pro410Thr)
c.1021C>A (p.Pro341Thr)
c.808C>A (p.Pro270Thr)
n.1046C>A
Xg.154564378C>GCA415219582IKBKGc.1141C>G (p.Pro381Ala)
c.1177C>G (p.Pro393Ala)
c.775C>G (p.Pro259Ala)
c.1024C>G (p.Pro342Ala)
c.1234C>G (p.Pro412Ala)
c.880C>G (p.Pro294Ala)
c.*1169C>G (n.*1169C>G)
c.1153C>G (p.Pro385Ala)
c.1174C>G (p.Pro392Ala)
c.1381C>G (p.Pro461Ala)
c.1156C>G (p.Pro386Ala)
c.1378C>G (p.Pro460Ala)
c.1321+358C>G (n.1321+358C>G)
c.1228C>G (p.Pro410Ala)
c.1021C>G (p.Pro341Ala)
c.808C>G (p.Pro270Ala)
n.1046C>G
Xg.154564378C>TCA415219591IKBKGc.1141C>T (p.Pro381Ser)
c.1177C>T (p.Pro393Ser)
c.775C>T (p.Pro259Ser)
c.1024C>T (p.Pro342Ser)
c.1234C>T (p.Pro412Ser)
c.880C>T (p.Pro294Ser)
c.*1169C>T (n.*1169C>T)
c.1153C>T (p.Pro385Ser)
c.1174C>T (p.Pro392Ser)
c.1381C>T (p.Pro461Ser)
c.1156C>T (p.Pro386Ser)
c.1378C>T (p.Pro460Ser)
c.1321+358C>T (n.1321+358C>T)
c.1228C>T (p.Pro410Ser)
c.1021C>T (p.Pro341Ser)
c.808C>T (p.Pro270Ser)
n.1046C>T
Xg.154564379C>ACA415219597IKBKGc.1142C>A (p.Pro381His)
c.1178C>A (p.Pro393His)
c.776C>A (p.Pro259His)
c.1025C>A (p.Pro342His)
c.1235C>A (p.Pro412His)
c.881C>A (p.Pro294His)
c.*1170C>A (n.*1170C>A)
c.1154C>A (p.Pro385His)
c.1175C>A (p.Pro392His)
c.1382C>A (p.Pro461His)
c.1157C>A (p.Pro386His)
c.1379C>A (p.Pro460His)
c.1321+359C>A (n.1321+359C>A)
c.1229C>A (p.Pro410His)
c.1022C>A (p.Pro341His)
c.809C>A (p.Pro270His)
n.1047C>A
Xg.154564379C=CA2466734044IKBKGc.1142C= (p.Pro381=)
c.1178C= (p.Pro393=)
c.776C= (p.Pro259=)
c.1025C= (p.Pro342=)
c.1235C= (p.Pro412=)
c.881C= (p.Pro294=)
c.*1170C= (n.*1170C=)
c.1154C= (p.Pro385=)
c.1175C= (p.Pro392=)
c.1382C= (p.Pro461=)
c.1157C= (p.Pro386=)
c.1379C= (p.Pro460=)
c.1321+359C= (n.1321+359C=)
c.1229C= (p.Pro410=)
c.1022C= (p.Pro341=)
c.809C= (p.Pro270=)
n.1047C=
Xg.154564379C>GCA415219603IKBKGc.1142C>G (p.Pro381Arg)
c.1178C>G (p.Pro393Arg)
c.776C>G (p.Pro259Arg)
c.1025C>G (p.Pro342Arg)
c.1235C>G (p.Pro412Arg)
c.881C>G (p.Pro294Arg)
c.*1170C>G (n.*1170C>G)
c.1154C>G (p.Pro385Arg)
c.1175C>G (p.Pro392Arg)
c.1382C>G (p.Pro461Arg)
c.1157C>G (p.Pro386Arg)
c.1379C>G (p.Pro460Arg)
c.1321+359C>G (n.1321+359C>G)
c.1229C>G (p.Pro410Arg)
c.1022C>G (p.Pro341Arg)
c.809C>G (p.Pro270Arg)
n.1047C>G
dbSNP gnomAD v2
Xg.154564379C>TCA415219594IKBKGc.1142C>T (p.Pro381Leu)
c.1178C>T (p.Pro393Leu)
c.776C>T (p.Pro259Leu)
c.1025C>T (p.Pro342Leu)
c.1235C>T (p.Pro412Leu)
c.881C>T (p.Pro294Leu)
c.*1170C>T (n.*1170C>T)
c.1154C>T (p.Pro385Leu)
c.1175C>T (p.Pro392Leu)
c.1382C>T (p.Pro461Leu)
c.1157C>T (p.Pro386Leu)
c.1379C>T (p.Pro460Leu)
c.1321+359C>T (n.1321+359C>T)
c.1229C>T (p.Pro410Leu)
c.1022C>T (p.Pro341Leu)
c.809C>T (p.Pro270Leu)
n.1047C>T
dbSNP gnomAD v2
Xg.154564380T>ACA519287182IKBKGc.1143T>A (p.Pro381=)
c.1179T>A (p.Pro393=)
c.777T>A (p.Pro259=)
c.1026T>A (p.Pro342=)
c.1236T>A (p.Pro412=)
c.882T>A (p.Pro294=)
c.*1171T>A (n.*1171T>A)
c.1155T>A (p.Pro385=)
c.1176T>A (p.Pro392=)
c.1383T>A (p.Pro461=)
c.1158T>A (p.Pro386=)
c.1380T>A (p.Pro460=)
c.1321+360T>A (n.1321+360T>A)
c.1230T>A (p.Pro410=)
c.1023T>A (p.Pro341=)
c.810T>A (p.Pro270=)
n.1048T>A
Xg.154564380T>CCA519287183IKBKGc.1143T>C (p.Pro381=)
c.1179T>C (p.Pro393=)
c.777T>C (p.Pro259=)
c.1026T>C (p.Pro342=)
c.1236T>C (p.Pro412=)
c.882T>C (p.Pro294=)
c.*1171T>C (n.*1171T>C)
c.1155T>C (p.Pro385=)
c.1176T>C (p.Pro392=)
c.1383T>C (p.Pro461=)
c.1158T>C (p.Pro386=)
c.1380T>C (p.Pro460=)
c.1321+360T>C (n.1321+360T>C)
c.1230T>C (p.Pro410=)
c.1023T>C (p.Pro341=)
c.810T>C (p.Pro270=)
n.1048T>C
Xg.154564380T>GCA519287184IKBKGc.1143T>G (p.Pro381=)
c.1179T>G (p.Pro393=)
c.777T>G (p.Pro259=)
c.1026T>G (p.Pro342=)
c.1236T>G (p.Pro412=)
c.882T>G (p.Pro294=)
c.*1171T>G (n.*1171T>G)
c.1155T>G (p.Pro385=)
c.1176T>G (p.Pro392=)
c.1383T>G (p.Pro461=)
c.1158T>G (p.Pro386=)
c.1380T>G (p.Pro460=)
c.1321+360T>G (n.1321+360T>G)
c.1230T>G (p.Pro410=)
c.1023T>G (p.Pro341=)
c.810T>G (p.Pro270=)
n.1048T>G
Xg.154564381G>ACA415219607IKBKGc.1144G>A (p.Asp382Asn)
c.1180G>A (p.Asp394Asn)
c.778G>A (p.Asp260Asn)
c.1027G>A (p.Asp343Asn)
c.1237G>A (p.Asp413Asn)
c.883G>A (p.Asp295Asn)
c.*1172G>A (n.*1172G>A)
c.1156G>A (p.Asp386Asn)
c.1177G>A (p.Asp393Asn)
c.1384G>A (p.Asp462Asn)
c.1159G>A (p.Asp387Asn)
c.1381G>A (p.Asp461Asn)
c.1321+361G>A (n.1321+361G>A)
c.1231G>A (p.Asp411Asn)
c.1024G>A (p.Asp342Asn)
c.811G>A (p.Asp271Asn)
n.1049G>A
Xg.154564381G>CCA415219613IKBKGc.1144G>C (p.Asp382His)
c.1180G>C (p.Asp394His)
c.778G>C (p.Asp260His)
c.1027G>C (p.Asp343His)
c.1237G>C (p.Asp413His)
c.883G>C (p.Asp295His)
c.*1172G>C (n.*1172G>C)
c.1156G>C (p.Asp386His)
c.1177G>C (p.Asp393His)
c.1384G>C (p.Asp462His)
c.1159G>C (p.Asp387His)
c.1381G>C (p.Asp461His)
c.1321+361G>C (n.1321+361G>C)
c.1231G>C (p.Asp411His)
c.1024G>C (p.Asp342His)
c.811G>C (p.Asp271His)
n.1049G>C
Xg.154564381G>TCA415219635IKBKGc.1144G>T (p.Asp382Tyr)
c.1180G>T (p.Asp394Tyr)
c.778G>T (p.Asp260Tyr)
c.1027G>T (p.Asp343Tyr)
c.1237G>T (p.Asp413Tyr)
c.883G>T (p.Asp295Tyr)
c.*1172G>T (n.*1172G>T)
c.1156G>T (p.Asp386Tyr)
c.1177G>T (p.Asp393Tyr)
c.1384G>T (p.Asp462Tyr)
c.1159G>T (p.Asp387Tyr)
c.1381G>T (p.Asp461Tyr)
c.1321+361G>T (n.1321+361G>T)
c.1231G>T (p.Asp411Tyr)
c.1024G>T (p.Asp342Tyr)
c.811G>T (p.Asp271Tyr)
n.1049G>T
Xg.154564382A>CCA415219641IKBKGc.1145A>C (p.Asp382Ala)
c.1181A>C (p.Asp394Ala)
c.779A>C (p.Asp260Ala)
c.1028A>C (p.Asp343Ala)
c.1238A>C (p.Asp413Ala)
c.884A>C (p.Asp295Ala)
c.*1173A>C (n.*1173A>C)
c.1157A>C (p.Asp386Ala)
c.1178A>C (p.Asp393Ala)
c.1385A>C (p.Asp462Ala)
c.1160A>C (p.Asp387Ala)
c.1382A>C (p.Asp461Ala)
c.1321+362A>C (n.1321+362A>C)
c.1232A>C (p.Asp411Ala)
c.1025A>C (p.Asp342Ala)
c.812A>C (p.Asp271Ala)
n.1050A>C
Xg.154564382A>GCA415219644IKBKGc.1145A>G (p.Asp382Gly)
c.1181A>G (p.Asp394Gly)
c.779A>G (p.Asp260Gly)
c.1028A>G (p.Asp343Gly)
c.1238A>G (p.Asp413Gly)
c.884A>G (p.Asp295Gly)
c.*1173A>G (n.*1173A>G)
c.1157A>G (p.Asp386Gly)
c.1178A>G (p.Asp393Gly)
c.1385A>G (p.Asp462Gly)
c.1160A>G (p.Asp387Gly)
c.1382A>G (p.Asp461Gly)
c.1321+362A>G (n.1321+362A>G)
c.1232A>G (p.Asp411Gly)
c.1025A>G (p.Asp342Gly)
c.812A>G (p.Asp271Gly)
n.1050A>G
Xg.154564382A>TCA415219652IKBKGc.1145A>T (p.Asp382Val)
c.1181A>T (p.Asp394Val)
c.779A>T (p.Asp260Val)
c.1028A>T (p.Asp343Val)
c.1238A>T (p.Asp413Val)
c.884A>T (p.Asp295Val)
c.*1173A>T (n.*1173A>T)
c.1157A>T (p.Asp386Val)
c.1178A>T (p.Asp393Val)
c.1385A>T (p.Asp462Val)
c.1160A>T (p.Asp387Val)
c.1382A>T (p.Asp461Val)
c.1321+362A>T (n.1321+362A>T)
c.1232A>T (p.Asp411Val)
c.1025A>T (p.Asp342Val)
c.812A>T (p.Asp271Val)
n.1050A>T
Xg.154564383C>ACA415219658IKBKGc.1146C>A (p.Asp382Glu)
c.1182C>A (p.Asp394Glu)
c.780C>A (p.Asp260Glu)
c.1029C>A (p.Asp343Glu)
c.1239C>A (p.Asp413Glu)
c.885C>A (p.Asp295Glu)
c.*1174C>A (n.*1174C>A)
c.1158C>A (p.Asp386Glu)
c.1179C>A (p.Asp393Glu)
c.1386C>A (p.Asp462Glu)
c.1161C>A (p.Asp387Glu)
c.1383C>A (p.Asp461Glu)
c.1321+363C>A (n.1321+363C>A)
c.1233C>A (p.Asp411Glu)
c.1026C>A (p.Asp342Glu)
c.813C>A (p.Asp271Glu)
n.1051C>A
Xg.154564383C>GCA415219662IKBKGc.1146C>G (p.Asp382Glu)
c.1182C>G (p.Asp394Glu)
c.780C>G (p.Asp260Glu)
c.1029C>G (p.Asp343Glu)
c.1239C>G (p.Asp413Glu)
c.885C>G (p.Asp295Glu)
c.*1174C>G (n.*1174C>G)
c.1158C>G (p.Asp386Glu)
c.1179C>G (p.Asp393Glu)
c.1386C>G (p.Asp462Glu)
c.1161C>G (p.Asp387Glu)
c.1383C>G (p.Asp461Glu)
c.1321+363C>G (n.1321+363C>G)
c.1233C>G (p.Asp411Glu)
c.1026C>G (p.Asp342Glu)
c.813C>G (p.Asp271Glu)
n.1051C>G
Xg.154564383C>TCA519287188IKBKGc.1146C>T (p.Asp382=)
c.1182C>T (p.Asp394=)
c.780C>T (p.Asp260=)
c.1029C>T (p.Asp343=)
c.1239C>T (p.Asp413=)
c.885C>T (p.Asp295=)
c.*1174C>T (n.*1174C>T)
c.1158C>T (p.Asp386=)
c.1179C>T (p.Asp393=)
c.1386C>T (p.Asp462=)
c.1161C>T (p.Asp387=)
c.1383C>T (p.Asp461=)
c.1321+363C>T (n.1321+363C>T)
c.1233C>T (p.Asp411=)
c.1026C>T (p.Asp342=)
c.813C>T (p.Asp271=)
n.1051C>T
Xg.154564383_154564384delCA2573320517IKBKGc.1146_1147del (p.Phe383LeufsTer11)
c.1182_1183del (p.Phe395LeufsTer11)
c.780_781del (p.Phe261LeufsTer11)
c.1029_1030del (p.Phe344LeufsTer11)
c.1239_1240del (p.Phe414LeufsTer11)
c.885_886del (p.Phe296LeufsTer11)
c.*1174_*1175del (n.*1174_*1175del)
c.1158_1159del (p.Phe387LeufsTer11)
c.1179_1180del (p.Phe394LeufsTer11)
c.1386_1387del (p.Phe463LeufsTer11)
c.1161_1162del (p.Phe388LeufsTer11)
c.1383_1384del (p.Phe462LeufsTer11)
c.1321+363_1321+364del (n.1321+363_1321+364del)
c.1233_1234del (p.Phe412LeufsTer11)
c.1026_1027del (p.Phe343LeufsTer11)
c.813_814del (p.Phe272LeufsTer11)
n.1051_1052del
Xg.154564384T>ACA415219670IKBKGc.1147T>A (p.Phe383Ile)
c.1183T>A (p.Phe395Ile)
c.781T>A (p.Phe261Ile)
c.1030T>A (p.Phe344Ile)
c.1240T>A (p.Phe414Ile)
c.886T>A (p.Phe296Ile)
c.*1175T>A (n.*1175T>A)
c.1159T>A (p.Phe387Ile)
c.1180T>A (p.Phe394Ile)
c.1387T>A (p.Phe463Ile)
c.1162T>A (p.Phe388Ile)
c.1384T>A (p.Phe462Ile)
c.1321+364T>A (n.1321+364T>A)
c.1234T>A (p.Phe412Ile)
c.1027T>A (p.Phe343Ile)
c.814T>A (p.Phe272Ile)
n.1052T>A
Xg.154564384T>CCA415219674IKBKGc.1147T>C (p.Phe383Leu)
c.1183T>C (p.Phe395Leu)
c.781T>C (p.Phe261Leu)
c.1030T>C (p.Phe344Leu)
c.1240T>C (p.Phe414Leu)
c.886T>C (p.Phe296Leu)
c.*1175T>C (n.*1175T>C)
c.1159T>C (p.Phe387Leu)
c.1180T>C (p.Phe394Leu)
c.1387T>C (p.Phe463Leu)
c.1162T>C (p.Phe388Leu)
c.1384T>C (p.Phe462Leu)
c.1321+364T>C (n.1321+364T>C)
c.1234T>C (p.Phe412Leu)
c.1027T>C (p.Phe343Leu)
c.814T>C (p.Phe272Leu)
n.1052T>C
Xg.154564384T>GCA415219679IKBKGc.1147T>G (p.Phe383Val)
c.1183T>G (p.Phe395Val)
c.781T>G (p.Phe261Val)
c.1030T>G (p.Phe344Val)
c.1240T>G (p.Phe414Val)
c.886T>G (p.Phe296Val)
c.*1175T>G (n.*1175T>G)
c.1159T>G (p.Phe387Val)
c.1180T>G (p.Phe394Val)
c.1387T>G (p.Phe463Val)
c.1162T>G (p.Phe388Val)
c.1384T>G (p.Phe462Val)
c.1321+364T>G (n.1321+364T>G)
c.1234T>G (p.Phe412Val)
c.1027T>G (p.Phe343Val)
c.814T>G (p.Phe272Val)
n.1052T>G
Xg.154564384_154564385delCA2573320518IKBKGc.1147_1148del (p.Phe383LeufsTer11)
c.1183_1184del (p.Phe395LeufsTer11)
c.781_782del (p.Phe261LeufsTer11)
c.1030_1031del (p.Phe344LeufsTer11)
c.1240_1241del (p.Phe414LeufsTer11)
c.886_887del (p.Phe296LeufsTer11)
c.*1175_*1176del (n.*1175_*1176del)
c.1159_1160del (p.Phe387LeufsTer11)
c.1180_1181del (p.Phe394LeufsTer11)
c.1387_1388del (p.Phe463LeufsTer11)
c.1162_1163del (p.Phe388LeufsTer11)
c.1384_1385del (p.Phe462LeufsTer11)
c.1321+364_1321+365del (n.1321+364_1321+365del)
c.1234_1235del (p.Phe412LeufsTer11)
c.1027_1028del (p.Phe343LeufsTer11)
c.814_815del (p.Phe272LeufsTer11)
n.1052_1053del
Xg.154564385T>ACA415219685IKBKGc.1148T>A (p.Phe383Tyr)
c.1184T>A (p.Phe395Tyr)
c.782T>A (p.Phe261Tyr)
c.1031T>A (p.Phe344Tyr)
c.1241T>A (p.Phe414Tyr)
c.887T>A (p.Phe296Tyr)
c.*1176T>A (n.*1176T>A)
c.1160T>A (p.Phe387Tyr)
c.1181T>A (p.Phe394Tyr)
c.1388T>A (p.Phe463Tyr)
c.1163T>A (p.Phe388Tyr)
c.1385T>A (p.Phe462Tyr)
c.1321+365T>A (n.1321+365T>A)
c.1235T>A (p.Phe412Tyr)
c.1028T>A (p.Phe343Tyr)
c.815T>A (p.Phe272Tyr)
n.1053T>A
Xg.154564385T>CCA415219682IKBKGc.1148T>C (p.Phe383Ser)
c.1184T>C (p.Phe395Ser)
c.782T>C (p.Phe261Ser)
c.1031T>C (p.Phe344Ser)
c.1241T>C (p.Phe414Ser)
c.887T>C (p.Phe296Ser)
c.*1176T>C (n.*1176T>C)
c.1160T>C (p.Phe387Ser)
c.1181T>C (p.Phe394Ser)
c.1388T>C (p.Phe463Ser)
c.1163T>C (p.Phe388Ser)
c.1385T>C (p.Phe462Ser)
c.1321+365T>C (n.1321+365T>C)
c.1235T>C (p.Phe412Ser)
c.1028T>C (p.Phe343Ser)
c.815T>C (p.Phe272Ser)
n.1053T>C
Xg.154564385T>GCA415219681IKBKGc.1148T>G (p.Phe383Cys)
c.1184T>G (p.Phe395Cys)
c.782T>G (p.Phe261Cys)
c.1031T>G (p.Phe344Cys)
c.1241T>G (p.Phe414Cys)
c.887T>G (p.Phe296Cys)
c.*1176T>G (n.*1176T>G)
c.1160T>G (p.Phe387Cys)
c.1181T>G (p.Phe394Cys)
c.1388T>G (p.Phe463Cys)
c.1163T>G (p.Phe388Cys)
c.1385T>G (p.Phe462Cys)
c.1321+365T>G (n.1321+365T>G)
c.1235T>G (p.Phe412Cys)
c.1028T>G (p.Phe343Cys)
c.815T>G (p.Phe272Cys)
n.1053T>G
Xg.154564386C>ACA415219686IKBKGc.1149C>A (p.Phe383Leu)
c.1185C>A (p.Phe395Leu)
c.783C>A (p.Phe261Leu)
c.1032C>A (p.Phe344Leu)
c.1242C>A (p.Phe414Leu)
c.888C>A (p.Phe296Leu)
c.*1177C>A (n.*1177C>A)
c.1161C>A (p.Phe387Leu)
c.1182C>A (p.Phe394Leu)
c.1389C>A (p.Phe463Leu)
c.1164C>A (p.Phe388Leu)
c.1386C>A (p.Phe462Leu)
c.1321+366C>A (n.1321+366C>A)
c.1236C>A (p.Phe412Leu)
c.1029C>A (p.Phe343Leu)
c.816C>A (p.Phe272Leu)
n.1054C>A
Xg.154564386C>GCA415219687IKBKGc.1149C>G (p.Phe383Leu)
c.1185C>G (p.Phe395Leu)
c.783C>G (p.Phe261Leu)
c.1032C>G (p.Phe344Leu)
c.1242C>G (p.Phe414Leu)
c.888C>G (p.Phe296Leu)
c.*1177C>G (n.*1177C>G)
c.1161C>G (p.Phe387Leu)
c.1182C>G (p.Phe394Leu)
c.1389C>G (p.Phe463Leu)
c.1164C>G (p.Phe388Leu)
c.1386C>G (p.Phe462Leu)
c.1321+366C>G (n.1321+366C>G)
c.1236C>G (p.Phe412Leu)
c.1029C>G (p.Phe343Leu)
c.816C>G (p.Phe272Leu)
n.1054C>G
Xg.154564386C>TCA519287192IKBKGc.1149C>T (p.Phe383=)
c.1185C>T (p.Phe395=)
c.783C>T (p.Phe261=)
c.1032C>T (p.Phe344=)
c.1242C>T (p.Phe414=)
c.888C>T (p.Phe296=)
c.*1177C>T (n.*1177C>T)
c.1161C>T (p.Phe387=)
c.1182C>T (p.Phe394=)
c.1389C>T (p.Phe463=)
c.1164C>T (p.Phe388=)
c.1386C>T (p.Phe462=)
c.1321+366C>T (n.1321+366C>T)
c.1236C>T (p.Phe412=)
c.1029C>T (p.Phe343=)
c.816C>T (p.Phe272=)
n.1054C>T
Xg.154564387T>ACA415219689IKBKGc.1150T>A (p.Cys384Ser)
c.1186T>A (p.Cys396Ser)
c.784T>A (p.Cys262Ser)
c.1033T>A (p.Cys345Ser)
c.1243T>A (p.Cys415Ser)
c.889T>A (p.Cys297Ser)
c.*1178T>A (n.*1178T>A)
c.1162T>A (p.Cys388Ser)
c.1183T>A (p.Cys395Ser)
c.1390T>A (p.Cys464Ser)
c.1165T>A (p.Cys389Ser)
c.1387T>A (p.Cys463Ser)
c.1321+367T>A (n.1321+367T>A)
c.1237T>A (p.Cys413Ser)
c.1030T>A (p.Cys344Ser)
c.817T>A (p.Cys273Ser)
n.1055T>A
Xg.154564387T>CCA415219691IKBKGc.1150T>C (p.Cys384Arg)
c.1186T>C (p.Cys396Arg)
c.784T>C (p.Cys262Arg)
c.1033T>C (p.Cys345Arg)
c.1243T>C (p.Cys415Arg)
c.889T>C (p.Cys297Arg)
c.*1178T>C (n.*1178T>C)
c.1162T>C (p.Cys388Arg)
c.1183T>C (p.Cys395Arg)
c.1390T>C (p.Cys464Arg)
c.1165T>C (p.Cys389Arg)
c.1387T>C (p.Cys463Arg)
c.1321+367T>C (n.1321+367T>C)
c.1237T>C (p.Cys413Arg)
c.1030T>C (p.Cys344Arg)
c.817T>C (p.Cys273Arg)
n.1055T>C
Xg.154564387T>GCA415219695IKBKGc.1150T>G (p.Cys384Gly)
c.1186T>G (p.Cys396Gly)
c.784T>G (p.Cys262Gly)
c.1033T>G (p.Cys345Gly)
c.1243T>G (p.Cys415Gly)
c.889T>G (p.Cys297Gly)
c.*1178T>G (n.*1178T>G)
c.1162T>G (p.Cys388Gly)
c.1183T>G (p.Cys395Gly)
c.1390T>G (p.Cys464Gly)
c.1165T>G (p.Cys389Gly)
c.1387T>G (p.Cys463Gly)
c.1321+367T>G (n.1321+367T>G)
c.1237T>G (p.Cys413Gly)
c.1030T>G (p.Cys344Gly)
c.817T>G (p.Cys273Gly)
n.1055T>G
Xg.154564388G>ACA415219698IKBKGc.1151G>A (p.Cys384Tyr)
c.1187G>A (p.Cys396Tyr)
c.785G>A (p.Cys262Tyr)
c.1034G>A (p.Cys345Tyr)
c.1244G>A (p.Cys415Tyr)
c.890G>A (p.Cys297Tyr)
c.*1179G>A (n.*1179G>A)
c.1163G>A (p.Cys388Tyr)
c.1184G>A (p.Cys395Tyr)
c.1391G>A (p.Cys464Tyr)
c.1166G>A (p.Cys389Tyr)
c.1388G>A (p.Cys463Tyr)
c.1321+368G>A (n.1321+368G>A)
c.1238G>A (p.Cys413Tyr)
c.1031G>A (p.Cys344Tyr)
c.818G>A (p.Cys273Tyr)
n.1056G>A
Xg.154564388G>CCA415219699IKBKGc.1151G>C (p.Cys384Ser)
c.1187G>C (p.Cys396Ser)
c.785G>C (p.Cys262Ser)
c.1034G>C (p.Cys345Ser)
c.1244G>C (p.Cys415Ser)
c.890G>C (p.Cys297Ser)
c.*1179G>C (n.*1179G>C)
c.1163G>C (p.Cys388Ser)
c.1184G>C (p.Cys395Ser)
c.1391G>C (p.Cys464Ser)
c.1166G>C (p.Cys389Ser)
c.1388G>C (p.Cys463Ser)
c.1321+368G>C (n.1321+368G>C)
c.1238G>C (p.Cys413Ser)
c.1031G>C (p.Cys344Ser)
c.818G>C (p.Cys273Ser)
n.1056G>C
dbSNP gnomAD v2
Xg.154564388G=CA2466734045IKBKGc.1151G= (p.Cys384=)
c.1187G= (p.Cys396=)
c.785G= (p.Cys262=)
c.1034G= (p.Cys345=)
c.1244G= (p.Cys415=)
c.890G= (p.Cys297=)
c.*1179G= (n.*1179G=)
c.1163G= (p.Cys388=)
c.1184G= (p.Cys395=)
c.1391G= (p.Cys464=)
c.1166G= (p.Cys389=)
c.1388G= (p.Cys463=)
c.1321+368G= (n.1321+368G=)
c.1238G= (p.Cys413=)
c.1031G= (p.Cys344=)
c.818G= (p.Cys273=)
n.1056G=
Xg.154564388G>TCA415219703IKBKGc.1151G>T (p.Cys384Phe)
c.1187G>T (p.Cys396Phe)
c.785G>T (p.Cys262Phe)
c.1034G>T (p.Cys345Phe)
c.1244G>T (p.Cys415Phe)
c.890G>T (p.Cys297Phe)
c.*1179G>T (n.*1179G>T)
c.1163G>T (p.Cys388Phe)
c.1184G>T (p.Cys395Phe)
c.1391G>T (p.Cys464Phe)
c.1166G>T (p.Cys389Phe)
c.1388G>T (p.Cys463Phe)
c.1321+368G>T (n.1321+368G>T)
c.1238G>T (p.Cys413Phe)
c.1031G>T (p.Cys344Phe)
c.818G>T (p.Cys273Phe)
n.1056G>T
Xg.154564389C>ACA415219706IKBKGc.1152C>A (p.Cys384Ter)
c.1188C>A (p.Cys396Ter)
c.786C>A (p.Cys262Ter)
c.1035C>A (p.Cys345Ter)
c.1245C>A (p.Cys415Ter)
c.891C>A (p.Cys297Ter)
c.*1180C>A (n.*1180C>A)
c.1164C>A (p.Cys388Ter)
c.1185C>A (p.Cys395Ter)
c.1392C>A (p.Cys464Ter)
c.1167C>A (p.Cys389Ter)
c.1389C>A (p.Cys463Ter)
c.1321+369C>A (n.1321+369C>A)
c.1239C>A (p.Cys413Ter)
c.1032C>A (p.Cys344Ter)
c.819C>A (p.Cys273Ter)
n.1057C>A
Xg.154564389C>GCA415219712IKBKGc.1152C>G (p.Cys384Trp)
c.1188C>G (p.Cys396Trp)
c.786C>G (p.Cys262Trp)
c.1035C>G (p.Cys345Trp)
c.1245C>G (p.Cys415Trp)
c.891C>G (p.Cys297Trp)
c.*1180C>G (n.*1180C>G)
c.1164C>G (p.Cys388Trp)
c.1185C>G (p.Cys395Trp)
c.1392C>G (p.Cys464Trp)
c.1167C>G (p.Cys389Trp)
c.1389C>G (p.Cys463Trp)
c.1321+369C>G (n.1321+369C>G)
c.1239C>G (p.Cys413Trp)
c.1032C>G (p.Cys344Trp)
c.819C>G (p.Cys273Trp)
n.1057C>G
Xg.154564389C>TCA519287196IKBKGc.1152C>T (p.Cys384=)
c.1188C>T (p.Cys396=)
c.786C>T (p.Cys262=)
c.1035C>T (p.Cys345=)
c.1245C>T (p.Cys415=)
c.891C>T (p.Cys297=)
c.*1180C>T (n.*1180C>T)
c.1164C>T (p.Cys388=)
c.1185C>T (p.Cys395=)
c.1392C>T (p.Cys464=)
c.1167C>T (p.Cys389=)
c.1389C>T (p.Cys463=)
c.1321+369C>T (n.1321+369C>T)
c.1239C>T (p.Cys413=)
c.1032C>T (p.Cys344=)
c.819C>T (p.Cys273=)
n.1057C>T
Xg.154564390T>ACA415219716IKBKGc.1153T>A (p.Cys385Ser)
c.1189T>A (p.Cys397Ser)
c.787T>A (p.Cys263Ser)
c.1036T>A (p.Cys346Ser)
c.1246T>A (p.Cys416Ser)
c.892T>A (p.Cys298Ser)
c.*1181T>A (n.*1181T>A)
c.1165T>A (p.Cys389Ser)
c.1186T>A (p.Cys396Ser)
c.1393T>A (p.Cys465Ser)
c.1168T>A (p.Cys390Ser)
c.1390T>A (p.Cys464Ser)
c.1321+370T>A (n.1321+370T>A)
c.1240T>A (p.Cys414Ser)
c.1033T>A (p.Cys345Ser)
c.820T>A (p.Cys274Ser)
n.1058T>A
Xg.154564390T>CCA415219718IKBKGc.1153T>C (p.Cys385Arg)
c.1189T>C (p.Cys397Arg)
c.787T>C (p.Cys263Arg)
c.1036T>C (p.Cys346Arg)
c.1246T>C (p.Cys416Arg)
c.892T>C (p.Cys298Arg)
c.*1181T>C (n.*1181T>C)
c.1165T>C (p.Cys389Arg)
c.1186T>C (p.Cys396Arg)
c.1393T>C (p.Cys465Arg)
c.1168T>C (p.Cys390Arg)
c.1390T>C (p.Cys464Arg)
c.1321+370T>C (n.1321+370T>C)
c.1240T>C (p.Cys414Arg)
c.1033T>C (p.Cys345Arg)
c.820T>C (p.Cys274Arg)
n.1058T>C
Xg.154564390T>GCA415219722IKBKGc.1153T>G (p.Cys385Gly)
c.1189T>G (p.Cys397Gly)
c.787T>G (p.Cys263Gly)
c.1036T>G (p.Cys346Gly)
c.1246T>G (p.Cys416Gly)
c.892T>G (p.Cys298Gly)
c.*1181T>G (n.*1181T>G)
c.1165T>G (p.Cys389Gly)
c.1186T>G (p.Cys396Gly)
c.1393T>G (p.Cys465Gly)
c.1168T>G (p.Cys390Gly)
c.1390T>G (p.Cys464Gly)
c.1321+370T>G (n.1321+370T>G)
c.1240T>G (p.Cys414Gly)
c.1033T>G (p.Cys345Gly)
c.820T>G (p.Cys274Gly)
n.1058T>G
Xg.154564391G>ACA415219727IKBKGc.1154G>A (p.Cys385Tyr)
c.1190G>A (p.Cys397Tyr)
c.788G>A (p.Cys263Tyr)
c.1037G>A (p.Cys346Tyr)
c.1247G>A (p.Cys416Tyr)
c.893G>A (p.Cys298Tyr)
c.*1182G>A (n.*1182G>A)
c.1166G>A (p.Cys389Tyr)
c.1187G>A (p.Cys396Tyr)
c.1394G>A (p.Cys465Tyr)
c.1169G>A (p.Cys390Tyr)
c.1391G>A (p.Cys464Tyr)
c.1321+371G>A (n.1321+371G>A)
c.1241G>A (p.Cys414Tyr)
c.1034G>A (p.Cys345Tyr)
c.821G>A (p.Cys274Tyr)
n.1059G>A
Xg.154564391G>CCA415219725IKBKGc.1154G>C (p.Cys385Ser)
c.1190G>C (p.Cys397Ser)
c.788G>C (p.Cys263Ser)
c.1037G>C (p.Cys346Ser)
c.1247G>C (p.Cys416Ser)
c.893G>C (p.Cys298Ser)
c.*1182G>C (n.*1182G>C)
c.1166G>C (p.Cys389Ser)
c.1187G>C (p.Cys396Ser)
c.1394G>C (p.Cys465Ser)
c.1169G>C (p.Cys390Ser)
c.1391G>C (p.Cys464Ser)
c.1321+371G>C (n.1321+371G>C)
c.1241G>C (p.Cys414Ser)
c.1034G>C (p.Cys345Ser)
c.821G>C (p.Cys274Ser)
n.1059G>C
Xg.154564391G>TCA415219724IKBKGc.1154G>T (p.Cys385Phe)
c.1190G>T (p.Cys397Phe)
c.788G>T (p.Cys263Phe)
c.1037G>T (p.Cys346Phe)
c.1247G>T (p.Cys416Phe)
c.893G>T (p.Cys298Phe)
c.*1182G>T (n.*1182G>T)
c.1166G>T (p.Cys389Phe)
c.1187G>T (p.Cys396Phe)
c.1394G>T (p.Cys465Phe)
c.1169G>T (p.Cys390Phe)
c.1391G>T (p.Cys464Phe)
c.1321+371G>T (n.1321+371G>T)
c.1241G>T (p.Cys414Phe)
c.1034G>T (p.Cys345Phe)
c.821G>T (p.Cys274Phe)
n.1059G>T
Xg.154564392T>ACA415219731IKBKGc.1155T>A (p.Cys385Ter)
c.1191T>A (p.Cys397Ter)
c.789T>A (p.Cys263Ter)
c.1038T>A (p.Cys346Ter)
c.1248T>A (p.Cys416Ter)
c.894T>A (p.Cys298Ter)
c.*1183T>A (n.*1183T>A)
c.1167T>A (p.Cys389Ter)
c.1188T>A (p.Cys396Ter)
c.1395T>A (p.Cys465Ter)
c.1170T>A (p.Cys390Ter)
c.1392T>A (p.Cys464Ter)
c.1321+372T>A (n.1321+372T>A)
c.1242T>A (p.Cys414Ter)
c.1035T>A (p.Cys345Ter)
c.822T>A (p.Cys274Ter)
n.1060T>A
Xg.154564392T>CCA519287197IKBKGc.1155T>C (p.Cys385=)
c.1191T>C (p.Cys397=)
c.789T>C (p.Cys263=)
c.1038T>C (p.Cys346=)
c.1248T>C (p.Cys416=)
c.894T>C (p.Cys298=)
c.*1183T>C (n.*1183T>C)
c.1167T>C (p.Cys389=)
c.1188T>C (p.Cys396=)
c.1395T>C (p.Cys465=)
c.1170T>C (p.Cys390=)
c.1392T>C (p.Cys464=)
c.1321+372T>C (n.1321+372T>C)
c.1242T>C (p.Cys414=)
c.1035T>C (p.Cys345=)
c.822T>C (p.Cys274=)
n.1060T>C
dbSNP
Xg.154564392T>GCA415219733IKBKGc.1155T>G (p.Cys385Trp)
c.1191T>G (p.Cys397Trp)
c.789T>G (p.Cys263Trp)
c.1038T>G (p.Cys346Trp)
c.1248T>G (p.Cys416Trp)
c.894T>G (p.Cys298Trp)
c.*1183T>G (n.*1183T>G)
c.1167T>G (p.Cys389Trp)
c.1188T>G (p.Cys396Trp)
c.1395T>G (p.Cys465Trp)
c.1170T>G (p.Cys390Trp)
c.1392T>G (p.Cys464Trp)
c.1321+372T>G (n.1321+372T>G)
c.1242T>G (p.Cys414Trp)
c.1035T>G (p.Cys345Trp)
c.822T>G (p.Cys274Trp)
n.1060T>G
Xg.154564392T=CA2466734047IKBKGc.1155T= (p.Cys385=)
c.1191T= (p.Cys397=)
c.789T= (p.Cys263=)
c.1038T= (p.Cys346=)
c.1248T= (p.Cys416=)
c.894T= (p.Cys298=)
c.*1183T= (n.*1183T=)
c.1167T= (p.Cys389=)
c.1188T= (p.Cys396=)
c.1395T= (p.Cys465=)
c.1170T= (p.Cys390=)
c.1392T= (p.Cys464=)
c.1321+372T= (n.1321+372T=)
c.1242T= (p.Cys414=)
c.1035T= (p.Cys345=)
c.822T= (p.Cys274=)
n.1060T=
Xg.154564393C>ACA415219740IKBKGc.1156C>A (p.Pro386Thr)
c.1192C>A (p.Pro398Thr)
c.790C>A (p.Pro264Thr)
c.1039C>A (p.Pro347Thr)
c.1249C>A (p.Pro417Thr)
c.895C>A (p.Pro299Thr)
c.*1184C>A (n.*1184C>A)
c.1168C>A (p.Pro390Thr)
c.1189C>A (p.Pro397Thr)
c.1396C>A (p.Pro466Thr)
c.1171C>A (p.Pro391Thr)
c.1393C>A (p.Pro465Thr)
c.1321+373C>A (n.1321+373C>A)
c.1243C>A (p.Pro415Thr)
c.1036C>A (p.Pro346Thr)
c.823C>A (p.Pro275Thr)
n.1061C>A
Xg.154564393C>GCA415219741IKBKGc.1156C>G (p.Pro386Ala)
c.1192C>G (p.Pro398Ala)
c.790C>G (p.Pro264Ala)
c.1039C>G (p.Pro347Ala)
c.1249C>G (p.Pro417Ala)
c.895C>G (p.Pro299Ala)
c.*1184C>G (n.*1184C>G)
c.1168C>G (p.Pro390Ala)
c.1189C>G (p.Pro397Ala)
c.1396C>G (p.Pro466Ala)
c.1171C>G (p.Pro391Ala)
c.1393C>G (p.Pro465Ala)
c.1321+373C>G (n.1321+373C>G)
c.1243C>G (p.Pro415Ala)
c.1036C>G (p.Pro346Ala)
c.823C>G (p.Pro275Ala)
n.1061C>G
Xg.154564393C>TCA415219748IKBKGc.1156C>T (p.Pro386Ser)
c.1192C>T (p.Pro398Ser)
c.790C>T (p.Pro264Ser)
c.1039C>T (p.Pro347Ser)
c.1249C>T (p.Pro417Ser)
c.895C>T (p.Pro299Ser)
c.*1184C>T (n.*1184C>T)
c.1168C>T (p.Pro390Ser)
c.1189C>T (p.Pro397Ser)
c.1396C>T (p.Pro466Ser)
c.1171C>T (p.Pro391Ser)
c.1393C>T (p.Pro465Ser)
c.1321+373C>T (n.1321+373C>T)
c.1243C>T (p.Pro415Ser)
c.1036C>T (p.Pro346Ser)
c.823C>T (p.Pro275Ser)
n.1061C>T
Xg.154564394C>ACA415219755IKBKGc.1157C>A (p.Pro386His)
c.1193C>A (p.Pro398His)
c.791C>A (p.Pro264His)
c.1040C>A (p.Pro347His)
c.1250C>A (p.Pro417His)
c.896C>A (p.Pro299His)
c.*1185C>A (n.*1185C>A)
c.1169C>A (p.Pro390His)
c.1190C>A (p.Pro397His)
c.1397C>A (p.Pro466His)
c.1172C>A (p.Pro391His)
c.1394C>A (p.Pro465His)
c.1321+374C>A (n.1321+374C>A)
c.1244C>A (p.Pro415His)
c.1037C>A (p.Pro346His)
c.824C>A (p.Pro275His)
n.1062C>A
Xg.154564394C>GCA415219757IKBKGc.1157C>G (p.Pro386Arg)
c.1193C>G (p.Pro398Arg)
c.791C>G (p.Pro264Arg)
c.1040C>G (p.Pro347Arg)
c.1250C>G (p.Pro417Arg)
c.896C>G (p.Pro299Arg)
c.*1185C>G (n.*1185C>G)
c.1169C>G (p.Pro390Arg)
c.1190C>G (p.Pro397Arg)
c.1397C>G (p.Pro466Arg)
c.1172C>G (p.Pro391Arg)
c.1394C>G (p.Pro465Arg)
c.1321+374C>G (n.1321+374C>G)
c.1244C>G (p.Pro415Arg)
c.1037C>G (p.Pro346Arg)
c.824C>G (p.Pro275Arg)
n.1062C>G
Xg.154564394C>TCA415219759IKBKGc.1157C>T (p.Pro386Leu)
c.1193C>T (p.Pro398Leu)
c.791C>T (p.Pro264Leu)
c.1040C>T (p.Pro347Leu)
c.1250C>T (p.Pro417Leu)
c.896C>T (p.Pro299Leu)
c.*1185C>T (n.*1185C>T)
c.1169C>T (p.Pro390Leu)
c.1190C>T (p.Pro397Leu)
c.1397C>T (p.Pro466Leu)
c.1172C>T (p.Pro391Leu)
c.1394C>T (p.Pro465Leu)
c.1321+374C>T (n.1321+374C>T)
c.1244C>T (p.Pro415Leu)
c.1037C>T (p.Pro346Leu)
c.824C>T (p.Pro275Leu)
n.1062C>T
Xg.154564395C>ACA519287201IKBKGc.1158C>A (p.Pro386=)
c.1194C>A (p.Pro398=)
c.792C>A (p.Pro264=)
c.1041C>A (p.Pro347=)
c.1251C>A (p.Pro417=)
c.897C>A (p.Pro299=)
c.*1186C>A (n.*1186C>A)
c.1170C>A (p.Pro390=)
c.1191C>A (p.Pro397=)
c.1398C>A (p.Pro466=)
c.1173C>A (p.Pro391=)
c.1395C>A (p.Pro465=)
c.1321+375C>A (n.1321+375C>A)
c.1245C>A (p.Pro415=)
c.1038C>A (p.Pro346=)
c.825C>A (p.Pro275=)
n.1063C>A
Xg.154564395C>GCA519287202IKBKGc.1158C>G (p.Pro386=)
c.1194C>G (p.Pro398=)
c.792C>G (p.Pro264=)
c.1041C>G (p.Pro347=)
c.1251C>G (p.Pro417=)
c.897C>G (p.Pro299=)
c.*1186C>G (n.*1186C>G)
c.1170C>G (p.Pro390=)
c.1191C>G (p.Pro397=)
c.1398C>G (p.Pro466=)
c.1173C>G (p.Pro391=)
c.1395C>G (p.Pro465=)
c.1321+375C>G (n.1321+375C>G)
c.1245C>G (p.Pro415=)
c.1038C>G (p.Pro346=)
c.825C>G (p.Pro275=)
n.1063C>G
Xg.154564395C>TCA519287203IKBKGc.1158C>T (p.Pro386=)
c.1194C>T (p.Pro398=)
c.792C>T (p.Pro264=)
c.1041C>T (p.Pro347=)
c.1251C>T (p.Pro417=)
c.897C>T (p.Pro299=)
c.*1186C>T (n.*1186C>T)
c.1170C>T (p.Pro390=)
c.1191C>T (p.Pro397=)
c.1398C>T (p.Pro466=)
c.1173C>T (p.Pro391=)
c.1395C>T (p.Pro465=)
c.1321+375C>T (n.1321+375C>T)
c.1245C>T (p.Pro415=)
c.1038C>T (p.Pro346=)
c.825C>T (p.Pro275=)
n.1063C>T
Xg.154564396A=CA2466734048IKBKGc.1159A= (p.Lys387=)
c.1195A= (p.Lys399=)
c.793A= (p.Lys265=)
c.1042A= (p.Lys348=)
c.1252A= (p.Lys418=)
c.898A= (p.Lys300=)
c.*1187A= (n.*1187A=)
c.1171A= (p.Lys391=)
c.1192A= (p.Lys398=)
c.1399A= (p.Lys467=)
c.1174A= (p.Lys392=)
c.1396A= (p.Lys466=)
c.1321+376A= (n.1321+376A=)
c.1246A= (p.Lys416=)
c.1039A= (p.Lys347=)
c.826A= (p.Lys276=)
n.1064A=
Xg.154564396A>CCA415219765IKBKGc.1159A>C (p.Lys387Gln)
c.1195A>C (p.Lys399Gln)
c.793A>C (p.Lys265Gln)
c.1042A>C (p.Lys348Gln)
c.1252A>C (p.Lys418Gln)
c.898A>C (p.Lys300Gln)
c.*1187A>C (n.*1187A>C)
c.1171A>C (p.Lys391Gln)
c.1192A>C (p.Lys398Gln)
c.1399A>C (p.Lys467Gln)
c.1174A>C (p.Lys392Gln)
c.1396A>C (p.Lys466Gln)
c.1321+376A>C (n.1321+376A>C)
c.1246A>C (p.Lys416Gln)
c.1039A>C (p.Lys347Gln)
c.826A>C (p.Lys276Gln)
n.1064A>C
Xg.154564396A>GCA415219768IKBKGc.1159A>G (p.Lys387Glu)
c.1195A>G (p.Lys399Glu)
c.793A>G (p.Lys265Glu)
c.1042A>G (p.Lys348Glu)
c.1252A>G (p.Lys418Glu)
c.898A>G (p.Lys300Glu)
c.*1187A>G (n.*1187A>G)
c.1171A>G (p.Lys391Glu)
c.1192A>G (p.Lys398Glu)
c.1399A>G (p.Lys467Glu)
c.1174A>G (p.Lys392Glu)
c.1396A>G (p.Lys466Glu)
c.1321+376A>G (n.1321+376A>G)
c.1246A>G (p.Lys416Glu)
c.1039A>G (p.Lys347Glu)
c.826A>G (p.Lys276Glu)
n.1064A>G
dbSNP gnomAD v2
Xg.154564396A>TCA415219771IKBKGc.1159A>T (p.Lys387Ter)
c.1195A>T (p.Lys399Ter)
c.793A>T (p.Lys265Ter)
c.1042A>T (p.Lys348Ter)
c.1252A>T (p.Lys418Ter)
c.898A>T (p.Lys300Ter)
c.*1187A>T (n.*1187A>T)
c.1171A>T (p.Lys391Ter)
c.1192A>T (p.Lys398Ter)
c.1399A>T (p.Lys467Ter)
c.1174A>T (p.Lys392Ter)
c.1396A>T (p.Lys466Ter)
c.1321+376A>T (n.1321+376A>T)
c.1246A>T (p.Lys416Ter)
c.1039A>T (p.Lys347Ter)
c.826A>T (p.Lys276Ter)
n.1064A>T
Xg.154564397A>CCA415219775IKBKGc.1160A>C (p.Lys387Thr)
c.1196A>C (p.Lys399Thr)
c.794A>C (p.Lys265Thr)
c.1043A>C (p.Lys348Thr)
c.1253A>C (p.Lys418Thr)
c.899A>C (p.Lys300Thr)
c.*1188A>C (n.*1188A>C)
c.1172A>C (p.Lys391Thr)
c.1193A>C (p.Lys398Thr)
c.1400A>C (p.Lys467Thr)
c.1175A>C (p.Lys392Thr)
c.1397A>C (p.Lys466Thr)
c.1321+377A>C (n.1321+377A>C)
c.1247A>C (p.Lys416Thr)
c.1040A>C (p.Lys347Thr)
c.827A>C (p.Lys276Thr)
n.1065A>C
Xg.154564397A>GCA415219777IKBKGc.1160A>G (p.Lys387Arg)
c.1196A>G (p.Lys399Arg)
c.794A>G (p.Lys265Arg)
c.1043A>G (p.Lys348Arg)
c.1253A>G (p.Lys418Arg)
c.899A>G (p.Lys300Arg)
c.*1188A>G (n.*1188A>G)
c.1172A>G (p.Lys391Arg)
c.1193A>G (p.Lys398Arg)
c.1400A>G (p.Lys467Arg)
c.1175A>G (p.Lys392Arg)
c.1397A>G (p.Lys466Arg)
c.1321+377A>G (n.1321+377A>G)
c.1247A>G (p.Lys416Arg)
c.1040A>G (p.Lys347Arg)
c.827A>G (p.Lys276Arg)
n.1065A>G
Xg.154564397A>TCA415219781IKBKGc.1160A>T (p.Lys387Met)
c.1196A>T (p.Lys399Met)
c.794A>T (p.Lys265Met)
c.1043A>T (p.Lys348Met)
c.1253A>T (p.Lys418Met)
c.899A>T (p.Lys300Met)
c.*1188A>T (n.*1188A>T)
c.1172A>T (p.Lys391Met)
c.1193A>T (p.Lys398Met)
c.1400A>T (p.Lys467Met)
c.1175A>T (p.Lys392Met)
c.1397A>T (p.Lys466Met)
c.1321+377A>T (n.1321+377A>T)
c.1247A>T (p.Lys416Met)
c.1040A>T (p.Lys347Met)
c.827A>T (p.Lys276Met)
n.1065A>T
Xg.154564398G>ACA519287205IKBKGc.1161G>A (p.Lys387=)
c.1197G>A (p.Lys399=)
c.795G>A (p.Lys265=)
c.1044G>A (p.Lys348=)
c.1254G>A (p.Lys418=)
c.900G>A (p.Lys300=)
c.*1189G>A (n.*1189G>A)
c.1173G>A (p.Lys391=)
c.1194G>A (p.Lys398=)
c.1401G>A (p.Lys467=)
c.1176G>A (p.Lys392=)
c.1398G>A (p.Lys466=)
c.1321+378G>A (n.1321+378G>A)
c.1248G>A (p.Lys416=)
c.1041G>A (p.Lys347=)
c.828G>A (p.Lys276=)
n.1066G>A
Xg.154564398G>CCA415219785IKBKGc.1161G>C (p.Lys387Asn)
c.1197G>C (p.Lys399Asn)
c.795G>C (p.Lys265Asn)
c.1044G>C (p.Lys348Asn)
c.1254G>C (p.Lys418Asn)
c.900G>C (p.Lys300Asn)
c.*1189G>C (n.*1189G>C)
c.1173G>C (p.Lys391Asn)
c.1194G>C (p.Lys398Asn)
c.1401G>C (p.Lys467Asn)
c.1176G>C (p.Lys392Asn)
c.1398G>C (p.Lys466Asn)
c.1321+378G>C (n.1321+378G>C)
c.1248G>C (p.Lys416Asn)
c.1041G>C (p.Lys347Asn)
c.828G>C (p.Lys276Asn)
n.1066G>C
Xg.154564398G>TCA415219789IKBKGc.1161G>T (p.Lys387Asn)
c.1197G>T (p.Lys399Asn)
c.795G>T (p.Lys265Asn)
c.1044G>T (p.Lys348Asn)
c.1254G>T (p.Lys418Asn)
c.900G>T (p.Lys300Asn)
c.*1189G>T (n.*1189G>T)
c.1173G>T (p.Lys391Asn)
c.1194G>T (p.Lys398Asn)
c.1401G>T (p.Lys467Asn)
c.1176G>T (p.Lys392Asn)
c.1398G>T (p.Lys466Asn)
c.1321+378G>T (n.1321+378G>T)
c.1248G>T (p.Lys416Asn)
c.1041G>T (p.Lys347Asn)
c.828G>T (p.Lys276Asn)
n.1066G>T
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

Number of alleles fetched