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.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.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
Xg.154564419T>ACA415220070IKBKGc.1182T>A (p.Asp394Glu)
c.1218T>A (p.Asp406Glu)
c.816T>A (p.Asp272Glu)
c.1065T>A (p.Asp355Glu)
c.1275T>A (p.Asp425Glu)
c.921T>A (p.Asp307Glu)
c.*1210T>A (n.*1210T>A)
c.1194T>A (p.Asp398Glu)
c.1215T>A (p.Asp405Glu)
c.1422T>A (p.Asp474Glu)
c.1197T>A (p.Asp399Glu)
c.1419T>A (p.Asp473Glu)
c.1321+399T>A (n.1321+399T>A)
c.1269T>A (p.Asp423Glu)
c.1062T>A (p.Asp354Glu)
c.849T>A (p.Asp283Glu)
n.1087T>A
Xg.154564419T>CCA519287234IKBKGc.1182T>C (p.Asp394=)
c.1218T>C (p.Asp406=)
c.816T>C (p.Asp272=)
c.1065T>C (p.Asp355=)
c.1275T>C (p.Asp425=)
c.921T>C (p.Asp307=)
c.*1210T>C (n.*1210T>C)
c.1194T>C (p.Asp398=)
c.1215T>C (p.Asp405=)
c.1422T>C (p.Asp474=)
c.1197T>C (p.Asp399=)
c.1419T>C (p.Asp473=)
c.1321+399T>C (n.1321+399T>C)
c.1269T>C (p.Asp423=)
c.1062T>C (p.Asp354=)
c.849T>C (p.Asp283=)
n.1087T>C
Xg.154564419T>GCA415220073IKBKGc.1182T>G (p.Asp394Glu)
c.1218T>G (p.Asp406Glu)
c.816T>G (p.Asp272Glu)
c.1065T>G (p.Asp355Glu)
c.1275T>G (p.Asp425Glu)
c.921T>G (p.Asp307Glu)
c.*1210T>G (n.*1210T>G)
c.1194T>G (p.Asp398Glu)
c.1215T>G (p.Asp405Glu)
c.1422T>G (p.Asp474Glu)
c.1197T>G (p.Asp399Glu)
c.1419T>G (p.Asp473Glu)
c.1321+399T>G (n.1321+399T>G)
c.1269T>G (p.Asp423Glu)
c.1062T>G (p.Asp354Glu)
c.849T>G (p.Asp283Glu)
n.1087T>G
Xg.154564420A=CA2466734063IKBKGc.1183A= (p.Met395=)
c.1219A= (p.Met407=)
c.817A= (p.Met273=)
c.1066A= (p.Met356=)
c.1276A= (p.Met426=)
c.922A= (p.Met308=)
c.*1211A= (n.*1211A=)
c.1195A= (p.Met399=)
c.1216A= (p.Met406=)
c.1423A= (p.Met475=)
c.1198A= (p.Met400=)
c.1420A= (p.Met474=)
c.1321+400A= (n.1321+400A=)
c.1270A= (p.Met424=)
c.1063A= (p.Met355=)
c.850A= (p.Met284=)
n.1088A=
Xg.154564420A>CCA415220081IKBKGc.1183A>C (p.Met395Leu)
c.1219A>C (p.Met407Leu)
c.817A>C (p.Met273Leu)
c.1066A>C (p.Met356Leu)
c.1276A>C (p.Met426Leu)
c.922A>C (p.Met308Leu)
c.*1211A>C (n.*1211A>C)
c.1195A>C (p.Met399Leu)
c.1216A>C (p.Met406Leu)
c.1423A>C (p.Met475Leu)
c.1198A>C (p.Met400Leu)
c.1420A>C (p.Met474Leu)
c.1321+400A>C (n.1321+400A>C)
c.1270A>C (p.Met424Leu)
c.1063A>C (p.Met355Leu)
c.850A>C (p.Met284Leu)
n.1088A>C
Xg.154564420A>GCA255887IKBKGc.1183A>G (p.Met395Val)
c.1219A>G (p.Met407Val)
c.817A>G (p.Met273Val)
c.1066A>G (p.Met356Val)
c.1276A>G (p.Met426Val)
c.922A>G (p.Met308Val)
c.*1211A>G (n.*1211A>G)
c.1195A>G (p.Met399Val)
c.1216A>G (p.Met406Val)
c.1423A>G (p.Met475Val)
c.1198A>G (p.Met400Val)
c.1420A>G (p.Met474Val)
c.1321+400A>G (n.1321+400A>G)
c.1270A>G (p.Met424Val)
c.1063A>G (p.Met355Val)
c.850A>G (p.Met284Val)
n.1088A>G
 ClinVar dbSNP ExAC gnomAD v2
Xg.154564420A>TCA415220090IKBKGc.1183A>T (p.Met395Leu)
c.1219A>T (p.Met407Leu)
c.817A>T (p.Met273Leu)
c.1066A>T (p.Met356Leu)
c.1276A>T (p.Met426Leu)
c.922A>T (p.Met308Leu)
c.*1211A>T (n.*1211A>T)
c.1195A>T (p.Met399Leu)
c.1216A>T (p.Met406Leu)
c.1423A>T (p.Met475Leu)
c.1198A>T (p.Met400Leu)
c.1420A>T (p.Met474Leu)
c.1321+400A>T (n.1321+400A>T)
c.1270A>T (p.Met424Leu)
c.1063A>T (p.Met355Leu)
c.850A>T (p.Met284Leu)
n.1088A>T
Xg.154564420dupCA2573320468IKBKGc.1183dup (p.Met395AsnfsTer13)
c.1219dup (p.Met407AsnfsTer13)
c.817dup (p.Met273AsnfsTer13)
c.1066dup (p.Met356AsnfsTer13)
c.1276dup (p.Met426AsnfsTer13)
c.922dup (p.Met308AsnfsTer13)
c.*1211dup (n.*1211dup)
c.1195dup (p.Met399AsnfsTer13)
c.1216dup (p.Met406AsnfsTer13)
c.1423dup (p.Met475AsnfsTer13)
c.1198dup (p.Met400AsnfsTer13)
c.1420dup (p.Met474AsnfsTer13)
c.1321+400dup (n.1321+400dup)
c.1270dup (p.Met424AsnfsTer13)
c.1063dup (p.Met355AsnfsTer13)
c.850dup (p.Met284AsnfsTer13)
n.1088dup
Xg.154564421T>ACA415220098IKBKGc.1184T>A (p.Met395Lys)
c.1220T>A (p.Met407Lys)
c.818T>A (p.Met273Lys)
c.1067T>A (p.Met356Lys)
c.1277T>A (p.Met426Lys)
c.923T>A (p.Met308Lys)
c.*1212T>A (n.*1212T>A)
c.1196T>A (p.Met399Lys)
c.1217T>A (p.Met406Lys)
c.1424T>A (p.Met475Lys)
c.1199T>A (p.Met400Lys)
c.1421T>A (p.Met474Lys)
c.1321+401T>A (n.1321+401T>A)
c.1271T>A (p.Met424Lys)
c.1064T>A (p.Met355Lys)
c.851T>A (p.Met284Lys)
n.1089T>A
Xg.154564421T>CCA415220093IKBKGc.1184T>C (p.Met395Thr)
c.1220T>C (p.Met407Thr)
c.818T>C (p.Met273Thr)
c.1067T>C (p.Met356Thr)
c.1277T>C (p.Met426Thr)
c.923T>C (p.Met308Thr)
c.*1212T>C (n.*1212T>C)
c.1196T>C (p.Met399Thr)
c.1217T>C (p.Met406Thr)
c.1424T>C (p.Met475Thr)
c.1199T>C (p.Met400Thr)
c.1421T>C (p.Met474Thr)
c.1321+401T>C (n.1321+401T>C)
c.1271T>C (p.Met424Thr)
c.1064T>C (p.Met355Thr)
c.851T>C (p.Met284Thr)
n.1089T>C
Xg.154564421T>GCA415220095IKBKGc.1184T>G (p.Met395Arg)
c.1220T>G (p.Met407Arg)
c.818T>G (p.Met273Arg)
c.1067T>G (p.Met356Arg)
c.1277T>G (p.Met426Arg)
c.923T>G (p.Met308Arg)
c.*1212T>G (n.*1212T>G)
c.1196T>G (p.Met399Arg)
c.1217T>G (p.Met406Arg)
c.1424T>G (p.Met475Arg)
c.1199T>G (p.Met400Arg)
c.1421T>G (p.Met474Arg)
c.1321+401T>G (n.1321+401T>G)
c.1271T>G (p.Met424Arg)
c.1064T>G (p.Met355Arg)
c.851T>G (p.Met284Arg)
n.1089T>G
Xg.154564422G>ACA415220104IKBKGc.1185G>A (p.Met395Ile)
c.1221G>A (p.Met407Ile)
c.819G>A (p.Met273Ile)
c.1068G>A (p.Met356Ile)
c.1278G>A (p.Met426Ile)
c.924G>A (p.Met308Ile)
c.*1213G>A (n.*1213G>A)
c.1197G>A (p.Met399Ile)
c.1218G>A (p.Met406Ile)
c.1425G>A (p.Met475Ile)
c.1200G>A (p.Met400Ile)
c.1422G>A (p.Met474Ile)
c.1321+402G>A (n.1321+402G>A)
c.1272G>A (p.Met424Ile)
c.1065G>A (p.Met355Ile)
c.852G>A (p.Met284Ile)
n.1090G>A
Xg.154564422G>CCA415220109IKBKGc.1185G>C (p.Met395Ile)
c.1221G>C (p.Met407Ile)
c.819G>C (p.Met273Ile)
c.1068G>C (p.Met356Ile)
c.1278G>C (p.Met426Ile)
c.924G>C (p.Met308Ile)
c.*1213G>C (n.*1213G>C)
c.1197G>C (p.Met399Ile)
c.1218G>C (p.Met406Ile)
c.1425G>C (p.Met475Ile)
c.1200G>C (p.Met400Ile)
c.1422G>C (p.Met474Ile)
c.1321+402G>C (n.1321+402G>C)
c.1272G>C (p.Met424Ile)
c.1065G>C (p.Met355Ile)
c.852G>C (p.Met284Ile)
n.1090G>C
Xg.154564422G>TCA415220113IKBKGc.1185G>T (p.Met395Ile)
c.1221G>T (p.Met407Ile)
c.819G>T (p.Met273Ile)
c.1068G>T (p.Met356Ile)
c.1278G>T (p.Met426Ile)
c.924G>T (p.Met308Ile)
c.*1213G>T (n.*1213G>T)
c.1197G>T (p.Met399Ile)
c.1218G>T (p.Met406Ile)
c.1425G>T (p.Met475Ile)
c.1200G>T (p.Met400Ile)
c.1422G>T (p.Met474Ile)
c.1321+402G>T (n.1321+402G>T)
c.1272G>T (p.Met424Ile)
c.1065G>T (p.Met355Ile)
c.852G>T (p.Met284Ile)
n.1090G>T
Xg.154564423G>ACA415220119IKBKGc.1186G>A (p.Asp396Asn)
c.1222G>A (p.Asp408Asn)
c.820G>A (p.Asp274Asn)
c.1069G>A (p.Asp357Asn)
c.1279G>A (p.Asp427Asn)
c.925G>A (p.Asp309Asn)
c.*1214G>A (n.*1214G>A)
c.1198G>A (p.Asp400Asn)
c.1219G>A (p.Asp407Asn)
c.1426G>A (p.Asp476Asn)
c.1201G>A (p.Asp401Asn)
c.1423G>A (p.Asp475Asn)
c.1321+403G>A (n.1321+403G>A)
c.1273G>A (p.Asp425Asn)
c.1066G>A (p.Asp356Asn)
c.853G>A (p.Asp285Asn)
n.1091G>A
Xg.154564423G>CCA415220122IKBKGc.1186G>C (p.Asp396His)
c.1222G>C (p.Asp408His)
c.820G>C (p.Asp274His)
c.1069G>C (p.Asp357His)
c.1279G>C (p.Asp427His)
c.925G>C (p.Asp309His)
c.*1214G>C (n.*1214G>C)
c.1198G>C (p.Asp400His)
c.1219G>C (p.Asp407His)
c.1426G>C (p.Asp476His)
c.1201G>C (p.Asp401His)
c.1423G>C (p.Asp475His)
c.1321+403G>C (n.1321+403G>C)
c.1273G>C (p.Asp425His)
c.1066G>C (p.Asp356His)
c.853G>C (p.Asp285His)
n.1091G>C
Xg.154564423G>TCA415220125IKBKGc.1186G>T (p.Asp396Tyr)
c.1222G>T (p.Asp408Tyr)
c.820G>T (p.Asp274Tyr)
c.1069G>T (p.Asp357Tyr)
c.1279G>T (p.Asp427Tyr)
c.925G>T (p.Asp309Tyr)
c.*1214G>T (n.*1214G>T)
c.1198G>T (p.Asp400Tyr)
c.1219G>T (p.Asp407Tyr)
c.1426G>T (p.Asp476Tyr)
c.1201G>T (p.Asp401Tyr)
c.1423G>T (p.Asp475Tyr)
c.1321+403G>T (n.1321+403G>T)
c.1273G>T (p.Asp425Tyr)
c.1066G>T (p.Asp356Tyr)
c.853G>T (p.Asp285Tyr)
n.1091G>T
Xg.154564424A>CCA415220133IKBKGc.1187A>C (p.Asp396Ala)
c.1223A>C (p.Asp408Ala)
c.821A>C (p.Asp274Ala)
c.1070A>C (p.Asp357Ala)
c.1280A>C (p.Asp427Ala)
c.926A>C (p.Asp309Ala)
c.*1215A>C (n.*1215A>C)
c.1199A>C (p.Asp400Ala)
c.1220A>C (p.Asp407Ala)
c.1427A>C (p.Asp476Ala)
c.1202A>C (p.Asp401Ala)
c.1424A>C (p.Asp475Ala)
c.1321+404A>C (n.1321+404A>C)
c.1274A>C (p.Asp425Ala)
c.1067A>C (p.Asp356Ala)
c.854A>C (p.Asp285Ala)
n.1092A>C
Xg.154564424A>GCA415220141IKBKGc.1187A>G (p.Asp396Gly)
c.1223A>G (p.Asp408Gly)
c.821A>G (p.Asp274Gly)
c.1070A>G (p.Asp357Gly)
c.1280A>G (p.Asp427Gly)
c.926A>G (p.Asp309Gly)
c.*1215A>G (n.*1215A>G)
c.1199A>G (p.Asp400Gly)
c.1220A>G (p.Asp407Gly)
c.1427A>G (p.Asp476Gly)
c.1202A>G (p.Asp401Gly)
c.1424A>G (p.Asp475Gly)
c.1321+404A>G (n.1321+404A>G)
c.1274A>G (p.Asp425Gly)
c.1067A>G (p.Asp356Gly)
c.854A>G (p.Asp285Gly)
n.1092A>G
Xg.154564424A>TCA415220144IKBKGc.1187A>T (p.Asp396Val)
c.1223A>T (p.Asp408Val)
c.821A>T (p.Asp274Val)
c.1070A>T (p.Asp357Val)
c.1280A>T (p.Asp427Val)
c.926A>T (p.Asp309Val)
c.*1215A>T (n.*1215A>T)
c.1199A>T (p.Asp400Val)
c.1220A>T (p.Asp407Val)
c.1427A>T (p.Asp476Val)
c.1202A>T (p.Asp401Val)
c.1424A>T (p.Asp475Val)
c.1321+404A>T (n.1321+404A>T)
c.1274A>T (p.Asp425Val)
c.1067A>T (p.Asp356Val)
c.854A>T (p.Asp285Val)
n.1092A>T
Xg.154564425delCA2499226509IKBKGc.1188del (p.Asp396GlufsTer?)
c.1224del (p.Asp408GlufsTer?)
c.822del (p.Asp274GlufsTer?)
c.1071del (p.Asp357GlufsTer?)
c.1281del (p.Asp427GlufsTer?)
c.927del (p.Asp309GlufsTer?)
c.*1216del (n.*1216del)
c.1200del (p.Asp400GlufsTer?)
c.1221del (p.Asp407GlufsTer?)
c.1428del (p.Asp476GlufsTer?)
c.1203del (p.Asp401GlufsTer?)
c.1425del (p.Asp475GlufsTer?)
c.1321+405del (n.1321+405del)
c.1275del (p.Asp425GlufsTer?)
c.1068del (p.Asp356GlufsTer?)
c.855del (p.Asp285GlufsTer?)
n.1093del
 ClinVar dbSNP
Xg.154564425C>ACA415220150IKBKGc.1188C>A (p.Asp396Glu)
c.1224C>A (p.Asp408Glu)
c.822C>A (p.Asp274Glu)
c.1071C>A (p.Asp357Glu)
c.1281C>A (p.Asp427Glu)
c.927C>A (p.Asp309Glu)
c.*1216C>A (n.*1216C>A)
c.1200C>A (p.Asp400Glu)
c.1221C>A (p.Asp407Glu)
c.1428C>A (p.Asp476Glu)
c.1203C>A (p.Asp401Glu)
c.1425C>A (p.Asp475Glu)
c.1321+405C>A (n.1321+405C>A)
c.1275C>A (p.Asp425Glu)
c.1068C>A (p.Asp356Glu)
c.855C>A (p.Asp285Glu)
n.1093C>A
Xg.154564425C>GCA415220153IKBKGc.1188C>G (p.Asp396Glu)
c.1224C>G (p.Asp408Glu)
c.822C>G (p.Asp274Glu)
c.1071C>G (p.Asp357Glu)
c.1281C>G (p.Asp427Glu)
c.927C>G (p.Asp309Glu)
c.*1216C>G (n.*1216C>G)
c.1200C>G (p.Asp400Glu)
c.1221C>G (p.Asp407Glu)
c.1428C>G (p.Asp476Glu)
c.1203C>G (p.Asp401Glu)
c.1425C>G (p.Asp475Glu)
c.1321+405C>G (n.1321+405C>G)
c.1275C>G (p.Asp425Glu)
c.1068C>G (p.Asp356Glu)
c.855C>G (p.Asp285Glu)
n.1093C>G
Xg.154564425C>TCA519287238IKBKGc.1188C>T (p.Asp396=)
c.1224C>T (p.Asp408=)
c.822C>T (p.Asp274=)
c.1071C>T (p.Asp357=)
c.1281C>T (p.Asp427=)
c.927C>T (p.Asp309=)
c.*1216C>T (n.*1216C>T)
c.1200C>T (p.Asp400=)
c.1221C>T (p.Asp407=)
c.1428C>T (p.Asp476=)
c.1203C>T (p.Asp401=)
c.1425C>T (p.Asp475=)
c.1321+405C>T (n.1321+405C>T)
c.1275C>T (p.Asp425=)
c.1068C>T (p.Asp356=)
c.855C>T (p.Asp285=)
n.1093C>T
Xg.154564426A>CCA415220164IKBKGc.1189A>C (p.Thr397Pro)
c.1225A>C (p.Thr409Pro)
c.823A>C (p.Thr275Pro)
c.1072A>C (p.Thr358Pro)
c.1282A>C (p.Thr428Pro)
c.928A>C (p.Thr310Pro)
c.*1217A>C (n.*1217A>C)
c.1201A>C (p.Thr401Pro)
c.1222A>C (p.Thr408Pro)
c.1429A>C (p.Thr477Pro)
c.1204A>C (p.Thr402Pro)
c.1426A>C (p.Thr476Pro)
c.1321+406A>C (n.1321+406A>C)
c.1276A>C (p.Thr426Pro)
c.1069A>C (p.Thr357Pro)
c.856A>C (p.Thr286Pro)
n.1094A>C
Xg.154564426A>GCA415220170IKBKGc.1189A>G (p.Thr397Ala)
c.1225A>G (p.Thr409Ala)
c.823A>G (p.Thr275Ala)
c.1072A>G (p.Thr358Ala)
c.1282A>G (p.Thr428Ala)
c.928A>G (p.Thr310Ala)
c.*1217A>G (n.*1217A>G)
c.1201A>G (p.Thr401Ala)
c.1222A>G (p.Thr408Ala)
c.1429A>G (p.Thr477Ala)
c.1204A>G (p.Thr402Ala)
c.1426A>G (p.Thr476Ala)
c.1321+406A>G (n.1321+406A>G)
c.1276A>G (p.Thr426Ala)
c.1069A>G (p.Thr357Ala)
c.856A>G (p.Thr286Ala)
n.1094A>G
Xg.154564426A>TCA415220161IKBKGc.1189A>T (p.Thr397Ser)
c.1225A>T (p.Thr409Ser)
c.823A>T (p.Thr275Ser)
c.1072A>T (p.Thr358Ser)
c.1282A>T (p.Thr428Ser)
c.928A>T (p.Thr310Ser)
c.*1217A>T (n.*1217A>T)
c.1201A>T (p.Thr401Ser)
c.1222A>T (p.Thr408Ser)
c.1429A>T (p.Thr477Ser)
c.1204A>T (p.Thr402Ser)
c.1426A>T (p.Thr476Ser)
c.1321+406A>T (n.1321+406A>T)
c.1276A>T (p.Thr426Ser)
c.1069A>T (p.Thr357Ser)
c.856A>T (p.Thr286Ser)
n.1094A>T
Xg.154564427C>ACA415220184IKBKGc.1190C>A (p.Thr397Asn)
c.1226C>A (p.Thr409Asn)
c.824C>A (p.Thr275Asn)
c.1073C>A (p.Thr358Asn)
c.1283C>A (p.Thr428Asn)
c.929C>A (p.Thr310Asn)
c.*1218C>A (n.*1218C>A)
c.1202C>A (p.Thr401Asn)
c.1223C>A (p.Thr408Asn)
c.1430C>A (p.Thr477Asn)
c.1205C>A (p.Thr402Asn)
c.1427C>A (p.Thr476Asn)
c.1321+407C>A (n.1321+407C>A)
c.1277C>A (p.Thr426Asn)
c.1070C>A (p.Thr357Asn)
c.857C>A (p.Thr286Asn)
n.1095C>A
Xg.154564427C>GCA415220176IKBKGc.1190C>G (p.Thr397Ser)
c.1226C>G (p.Thr409Ser)
c.824C>G (p.Thr275Ser)
c.1073C>G (p.Thr358Ser)
c.1283C>G (p.Thr428Ser)
c.929C>G (p.Thr310Ser)
c.*1218C>G (n.*1218C>G)
c.1202C>G (p.Thr401Ser)
c.1223C>G (p.Thr408Ser)
c.1430C>G (p.Thr477Ser)
c.1205C>G (p.Thr402Ser)
c.1427C>G (p.Thr476Ser)
c.1321+407C>G (n.1321+407C>G)
c.1277C>G (p.Thr426Ser)
c.1070C>G (p.Thr357Ser)
c.857C>G (p.Thr286Ser)
n.1095C>G
Xg.154564427C>TCA415220180IKBKGc.1190C>T (p.Thr397Ile)
c.1226C>T (p.Thr409Ile)
c.824C>T (p.Thr275Ile)
c.1073C>T (p.Thr358Ile)
c.1283C>T (p.Thr428Ile)
c.929C>T (p.Thr310Ile)
c.*1218C>T (n.*1218C>T)
c.1202C>T (p.Thr401Ile)
c.1223C>T (p.Thr408Ile)
c.1430C>T (p.Thr477Ile)
c.1205C>T (p.Thr402Ile)
c.1427C>T (p.Thr476Ile)
c.1321+407C>T (n.1321+407C>T)
c.1277C>T (p.Thr426Ile)
c.1070C>T (p.Thr357Ile)
c.857C>T (p.Thr286Ile)
n.1095C>T
Xg.154564428C>ACA519287239IKBKGc.1191C>A (p.Thr397=)
c.1227C>A (p.Thr409=)
c.825C>A (p.Thr275=)
c.1074C>A (p.Thr358=)
c.1284C>A (p.Thr428=)
c.930C>A (p.Thr310=)
c.*1219C>A (n.*1219C>A)
c.1203C>A (p.Thr401=)
c.1224C>A (p.Thr408=)
c.1431C>A (p.Thr477=)
c.1206C>A (p.Thr402=)
c.1428C>A (p.Thr476=)
c.1321+408C>A (n.1321+408C>A)
c.1278C>A (p.Thr426=)
c.1071C>A (p.Thr357=)
c.858C>A (p.Thr286=)
n.1096C>A
 dbSNP gnomAD v2
Xg.154564428C=CA2466734064IKBKGc.1191C= (p.Thr397=)
c.1227C= (p.Thr409=)
c.825C= (p.Thr275=)
c.1074C= (p.Thr358=)
c.1284C= (p.Thr428=)
c.930C= (p.Thr310=)
c.*1219C= (n.*1219C=)
c.1203C= (p.Thr401=)
c.1224C= (p.Thr408=)
c.1431C= (p.Thr477=)
c.1206C= (p.Thr402=)
c.1428C= (p.Thr476=)
c.1321+408C= (n.1321+408C=)
c.1278C= (p.Thr426=)
c.1071C= (p.Thr357=)
c.858C= (p.Thr286=)
n.1096C=
Xg.154564428C>GCA519287240IKBKGc.1191C>G (p.Thr397=)
c.1227C>G (p.Thr409=)
c.825C>G (p.Thr275=)
c.1074C>G (p.Thr358=)
c.1284C>G (p.Thr428=)
c.930C>G (p.Thr310=)
c.*1219C>G (n.*1219C>G)
c.1203C>G (p.Thr401=)
c.1224C>G (p.Thr408=)
c.1431C>G (p.Thr477=)
c.1206C>G (p.Thr402=)
c.1428C>G (p.Thr476=)
c.1321+408C>G (n.1321+408C>G)
c.1278C>G (p.Thr426=)
c.1071C>G (p.Thr357=)
c.858C>G (p.Thr286=)
n.1096C>G
Xg.154564428C>TCA519287241IKBKGc.1191C>T (p.Thr397=)
c.1227C>T (p.Thr409=)
c.825C>T (p.Thr275=)
c.1074C>T (p.Thr358=)
c.1284C>T (p.Thr428=)
c.930C>T (p.Thr310=)
c.*1219C>T (n.*1219C>T)
c.1203C>T (p.Thr401=)
c.1224C>T (p.Thr408=)
c.1431C>T (p.Thr477=)
c.1206C>T (p.Thr402=)
c.1428C>T (p.Thr476=)
c.1321+408C>T (n.1321+408C>T)
c.1278C>T (p.Thr426=)
c.1071C>T (p.Thr357=)
c.858C>T (p.Thr286=)
n.1096C>T
Xg.154564429C>ACA415220189IKBKGc.1192C>A (p.Leu398Met)
c.1228C>A (p.Leu410Met)
c.826C>A (p.Leu276Met)
c.1075C>A (p.Leu359Met)
c.1285C>A (p.Leu429Met)
c.931C>A (p.Leu311Met)
c.*1220C>A (n.*1220C>A)
c.1204C>A (p.Leu402Met)
c.1225C>A (p.Leu409Met)
c.1432C>A (p.Leu478Met)
c.1207C>A (p.Leu403Met)
c.1429C>A (p.Leu477Met)
c.1321+409C>A (n.1321+409C>A)
c.1279C>A (p.Leu427Met)
c.1072C>A (p.Leu358Met)
c.859C>A (p.Leu287Met)
n.1097C>A
Xg.154564429C>GCA415220192IKBKGc.1192C>G (p.Leu398Val)
c.1228C>G (p.Leu410Val)
c.826C>G (p.Leu276Val)
c.1075C>G (p.Leu359Val)
c.1285C>G (p.Leu429Val)
c.931C>G (p.Leu311Val)
c.*1220C>G (n.*1220C>G)
c.1204C>G (p.Leu402Val)
c.1225C>G (p.Leu409Val)
c.1432C>G (p.Leu478Val)
c.1207C>G (p.Leu403Val)
c.1429C>G (p.Leu477Val)
c.1321+409C>G (n.1321+409C>G)
c.1279C>G (p.Leu427Val)
c.1072C>G (p.Leu358Val)
c.859C>G (p.Leu287Val)
n.1097C>G
Xg.154564429C>TCA519287242IKBKGc.1192C>T (p.Leu398=)
c.1228C>T (p.Leu410=)
c.826C>T (p.Leu276=)
c.1075C>T (p.Leu359=)
c.1285C>T (p.Leu429=)
c.931C>T (p.Leu311=)
c.*1220C>T (n.*1220C>T)
c.1204C>T (p.Leu402=)
c.1225C>T (p.Leu409=)
c.1432C>T (p.Leu478=)
c.1207C>T (p.Leu403=)
c.1429C>T (p.Leu477=)
c.1321+409C>T (n.1321+409C>T)
c.1279C>T (p.Leu427=)
c.1072C>T (p.Leu358=)
c.859C>T (p.Leu287=)
n.1097C>T
Xg.154564430T>ACA415220196IKBKGc.1193T>A (p.Leu398Gln)
c.1229T>A (p.Leu410Gln)
c.827T>A (p.Leu276Gln)
c.1076T>A (p.Leu359Gln)
c.1286T>A (p.Leu429Gln)
c.932T>A (p.Leu311Gln)
c.*1221T>A (n.*1221T>A)
c.1205T>A (p.Leu402Gln)
c.1226T>A (p.Leu409Gln)
c.1433T>A (p.Leu478Gln)
c.1208T>A (p.Leu403Gln)
c.1430T>A (p.Leu477Gln)
c.1321+410T>A (n.1321+410T>A)
c.1280T>A (p.Leu427Gln)
c.1073T>A (p.Leu358Gln)
c.860T>A (p.Leu287Gln)
n.1098T>A
Xg.154564430T>CCA415220210IKBKGc.1193T>C (p.Leu398Pro)
c.1229T>C (p.Leu410Pro)
c.827T>C (p.Leu276Pro)
c.1076T>C (p.Leu359Pro)
c.1286T>C (p.Leu429Pro)
c.932T>C (p.Leu311Pro)
c.*1221T>C (n.*1221T>C)
c.1205T>C (p.Leu402Pro)
c.1226T>C (p.Leu409Pro)
c.1433T>C (p.Leu478Pro)
c.1208T>C (p.Leu403Pro)
c.1430T>C (p.Leu477Pro)
c.1321+410T>C (n.1321+410T>C)
c.1280T>C (p.Leu427Pro)
c.1073T>C (p.Leu358Pro)
c.860T>C (p.Leu287Pro)
n.1098T>C
Xg.154564430T>GCA415220214IKBKGc.1193T>G (p.Leu398Arg)
c.1229T>G (p.Leu410Arg)
c.827T>G (p.Leu276Arg)
c.1076T>G (p.Leu359Arg)
c.1286T>G (p.Leu429Arg)
c.932T>G (p.Leu311Arg)
c.*1221T>G (n.*1221T>G)
c.1205T>G (p.Leu402Arg)
c.1226T>G (p.Leu409Arg)
c.1433T>G (p.Leu478Arg)
c.1208T>G (p.Leu403Arg)
c.1430T>G (p.Leu477Arg)
c.1321+410T>G (n.1321+410T>G)
c.1280T>G (p.Leu427Arg)
c.1073T>G (p.Leu358Arg)
c.860T>G (p.Leu287Arg)
n.1098T>G
Xg.154564431G>ACA519287243IKBKGc.1194G>A (p.Leu398=)
c.1230G>A (p.Leu410=)
c.828G>A (p.Leu276=)
c.1077G>A (p.Leu359=)
c.1287G>A (p.Leu429=)
c.933G>A (p.Leu311=)
c.*1222G>A (n.*1222G>A)
c.1206G>A (p.Leu402=)
c.1227G>A (p.Leu409=)
c.1434G>A (p.Leu478=)
c.1209G>A (p.Leu403=)
c.1431G>A (p.Leu477=)
c.1321+411G>A (n.1321+411G>A)
c.1281G>A (p.Leu427=)
c.1074G>A (p.Leu358=)
c.861G>A (p.Leu287=)
n.1099G>A
Xg.154564431G>CCA519287245IKBKGc.1194G>C (p.Leu398=)
c.1230G>C (p.Leu410=)
c.828G>C (p.Leu276=)
c.1077G>C (p.Leu359=)
c.1287G>C (p.Leu429=)
c.933G>C (p.Leu311=)
c.*1222G>C (n.*1222G>C)
c.1206G>C (p.Leu402=)
c.1227G>C (p.Leu409=)
c.1434G>C (p.Leu478=)
c.1209G>C (p.Leu403=)
c.1431G>C (p.Leu477=)
c.1321+411G>C (n.1321+411G>C)
c.1281G>C (p.Leu427=)
c.1074G>C (p.Leu358=)
c.861G>C (p.Leu287=)
n.1099G>C
Xg.154564431G>TCA519287244IKBKGc.1194G>T (p.Leu398=)
c.1230G>T (p.Leu410=)
c.828G>T (p.Leu276=)
c.1077G>T (p.Leu359=)
c.1287G>T (p.Leu429=)
c.933G>T (p.Leu311=)
c.*1222G>T (n.*1222G>T)
c.1206G>T (p.Leu402=)
c.1227G>T (p.Leu409=)
c.1434G>T (p.Leu478=)
c.1209G>T (p.Leu403=)
c.1431G>T (p.Leu477=)
c.1321+411G>T (n.1321+411G>T)
c.1281G>T (p.Leu427=)
c.1074G>T (p.Leu358=)
c.861G>T (p.Leu287=)
n.1099G>T
Xg.154564432C>ACA415220221IKBKGc.1195C>A (p.Gln399Lys)
c.1231C>A (p.Gln411Lys)
c.829C>A (p.Gln277Lys)
c.1078C>A (p.Gln360Lys)
c.1288C>A (p.Gln430Lys)
c.934C>A (p.Gln312Lys)
c.*1223C>A (n.*1223C>A)
c.1207C>A (p.Gln403Lys)
c.1228C>A (p.Gln410Lys)
c.1435C>A (p.Gln479Lys)
c.1210C>A (p.Gln404Lys)
c.1432C>A (p.Gln478Lys)
c.1321+412C>A (n.1321+412C>A)
c.1282C>A (p.Gln428Lys)
c.1075C>A (p.Gln359Lys)
c.862C>A (p.Gln288Lys)
n.1100C>A
Xg.154564432C>GCA415220227IKBKGc.1195C>G (p.Gln399Glu)
c.1231C>G (p.Gln411Glu)
c.829C>G (p.Gln277Glu)
c.1078C>G (p.Gln360Glu)
c.1288C>G (p.Gln430Glu)
c.934C>G (p.Gln312Glu)
c.*1223C>G (n.*1223C>G)
c.1207C>G (p.Gln403Glu)
c.1228C>G (p.Gln410Glu)
c.1435C>G (p.Gln479Glu)
c.1210C>G (p.Gln404Glu)
c.1432C>G (p.Gln478Glu)
c.1321+412C>G (n.1321+412C>G)
c.1282C>G (p.Gln428Glu)
c.1075C>G (p.Gln359Glu)
c.862C>G (p.Gln288Glu)
n.1100C>G
Xg.154564432C>TCA415220232IKBKGc.1195C>T (p.Gln399Ter)
c.1231C>T (p.Gln411Ter)
c.829C>T (p.Gln277Ter)
c.1078C>T (p.Gln360Ter)
c.1288C>T (p.Gln430Ter)
c.934C>T (p.Gln312Ter)
c.*1223C>T (n.*1223C>T)
c.1207C>T (p.Gln403Ter)
c.1228C>T (p.Gln410Ter)
c.1435C>T (p.Gln479Ter)
c.1210C>T (p.Gln404Ter)
c.1432C>T (p.Gln478Ter)
c.1321+412C>T (n.1321+412C>T)
c.1282C>T (p.Gln428Ter)
c.1075C>T (p.Gln359Ter)
c.862C>T (p.Gln288Ter)
n.1100C>T
Xg.154564433A>CCA415220238IKBKGc.1196A>C (p.Gln399Pro)
c.1232A>C (p.Gln411Pro)
c.830A>C (p.Gln277Pro)
c.1079A>C (p.Gln360Pro)
c.1289A>C (p.Gln430Pro)
c.935A>C (p.Gln312Pro)
c.*1224A>C (n.*1224A>C)
c.1208A>C (p.Gln403Pro)
c.1229A>C (p.Gln410Pro)
c.1436A>C (p.Gln479Pro)
c.1211A>C (p.Gln404Pro)
c.1433A>C (p.Gln478Pro)
c.1321+413A>C (n.1321+413A>C)
c.1283A>C (p.Gln428Pro)
c.1076A>C (p.Gln359Pro)
c.863A>C (p.Gln288Pro)
n.1101A>C
Xg.154564433A>GCA415220234IKBKGc.1196A>G (p.Gln399Arg)
c.1232A>G (p.Gln411Arg)
c.830A>G (p.Gln277Arg)
c.1079A>G (p.Gln360Arg)
c.1289A>G (p.Gln430Arg)
c.935A>G (p.Gln312Arg)
c.*1224A>G (n.*1224A>G)
c.1208A>G (p.Gln403Arg)
c.1229A>G (p.Gln410Arg)
c.1436A>G (p.Gln479Arg)
c.1211A>G (p.Gln404Arg)
c.1433A>G (p.Gln478Arg)
c.1321+413A>G (n.1321+413A>G)
c.1283A>G (p.Gln428Arg)
c.1076A>G (p.Gln359Arg)
c.863A>G (p.Gln288Arg)
n.1101A>G
Xg.154564433A>TCA415220233IKBKGc.1196A>T (p.Gln399Leu)
c.1232A>T (p.Gln411Leu)
c.830A>T (p.Gln277Leu)
c.1079A>T (p.Gln360Leu)
c.1289A>T (p.Gln430Leu)
c.935A>T (p.Gln312Leu)
c.*1224A>T (n.*1224A>T)
c.1208A>T (p.Gln403Leu)
c.1229A>T (p.Gln410Leu)
c.1436A>T (p.Gln479Leu)
c.1211A>T (p.Gln404Leu)
c.1433A>T (p.Gln478Leu)
c.1321+413A>T (n.1321+413A>T)
c.1283A>T (p.Gln428Leu)
c.1076A>T (p.Gln359Leu)
c.863A>T (p.Gln288Leu)
n.1101A>T
Xg.154564434G>ACA519287246IKBKGc.1197G>A (p.Gln399=)
c.1233G>A (p.Gln411=)
c.831G>A (p.Gln277=)
c.1080G>A (p.Gln360=)
c.1290G>A (p.Gln430=)
c.936G>A (p.Gln312=)
c.*1225G>A (n.*1225G>A)
c.1209G>A (p.Gln403=)
c.1230G>A (p.Gln410=)
c.1437G>A (p.Gln479=)
c.1212G>A (p.Gln404=)
c.1434G>A (p.Gln478=)
c.1321+414G>A (n.1321+414G>A)
c.1284G>A (p.Gln428=)
c.1077G>A (p.Gln359=)
c.864G>A (p.Gln288=)
n.1102G>A
Xg.154564434G>CCA415220243IKBKGc.1197G>C (p.Gln399His)
c.1233G>C (p.Gln411His)
c.831G>C (p.Gln277His)
c.1080G>C (p.Gln360His)
c.1290G>C (p.Gln430His)
c.936G>C (p.Gln312His)
c.*1225G>C (n.*1225G>C)
c.1209G>C (p.Gln403His)
c.1230G>C (p.Gln410His)
c.1437G>C (p.Gln479His)
c.1212G>C (p.Gln404His)
c.1434G>C (p.Gln478His)
c.1321+414G>C (n.1321+414G>C)
c.1284G>C (p.Gln428His)
c.1077G>C (p.Gln359His)
c.864G>C (p.Gln288His)
n.1102G>C
Xg.154564434G>TCA415220246IKBKGc.1197G>T (p.Gln399His)
c.1233G>T (p.Gln411His)
c.831G>T (p.Gln277His)
c.1080G>T (p.Gln360His)
c.1290G>T (p.Gln430His)
c.936G>T (p.Gln312His)
c.*1225G>T (n.*1225G>T)
c.1209G>T (p.Gln403His)
c.1230G>T (p.Gln410His)
c.1437G>T (p.Gln479His)
c.1212G>T (p.Gln404His)
c.1434G>T (p.Gln478His)
c.1321+414G>T (n.1321+414G>T)
c.1284G>T (p.Gln428His)
c.1077G>T (p.Gln359His)
c.864G>T (p.Gln288His)
n.1102G>T
Xg.154564435A>CCA415220253IKBKGc.1198A>C (p.Ile400Leu)
c.1234A>C (p.Ile412Leu)
c.832A>C (p.Ile278Leu)
c.1081A>C (p.Ile361Leu)
c.1291A>C (p.Ile431Leu)
c.937A>C (p.Ile313Leu)
c.*1226A>C (n.*1226A>C)
c.1210A>C (p.Ile404Leu)
c.1231A>C (p.Ile411Leu)
c.1438A>C (p.Ile480Leu)
c.1213A>C (p.Ile405Leu)
c.1435A>C (p.Ile479Leu)
c.1321+415A>C (n.1321+415A>C)
c.1285A>C (p.Ile429Leu)
c.1078A>C (p.Ile360Leu)
c.865A>C (p.Ile289Leu)
n.1103A>C
Xg.154564435A>GCA415220257IKBKGc.1198A>G (p.Ile400Val)
c.1234A>G (p.Ile412Val)
c.832A>G (p.Ile278Val)
c.1081A>G (p.Ile361Val)
c.1291A>G (p.Ile431Val)
c.937A>G (p.Ile313Val)
c.*1226A>G (n.*1226A>G)
c.1210A>G (p.Ile404Val)
c.1231A>G (p.Ile411Val)
c.1438A>G (p.Ile480Val)
c.1213A>G (p.Ile405Val)
c.1435A>G (p.Ile479Val)
c.1321+415A>G (n.1321+415A>G)
c.1285A>G (p.Ile429Val)
c.1078A>G (p.Ile360Val)
c.865A>G (p.Ile289Val)
n.1103A>G
Xg.154564435A>TCA415220258IKBKGc.1198A>T (p.Ile400Leu)
c.1234A>T (p.Ile412Leu)
c.832A>T (p.Ile278Leu)
c.1081A>T (p.Ile361Leu)
c.1291A>T (p.Ile431Leu)
c.937A>T (p.Ile313Leu)
c.*1226A>T (n.*1226A>T)
c.1210A>T (p.Ile404Leu)
c.1231A>T (p.Ile411Leu)
c.1438A>T (p.Ile480Leu)
c.1213A>T (p.Ile405Leu)
c.1435A>T (p.Ile479Leu)
c.1321+415A>T (n.1321+415A>T)
c.1285A>T (p.Ile429Leu)
c.1078A>T (p.Ile360Leu)
c.865A>T (p.Ile289Leu)
n.1103A>T
Xg.154564435_154564436insCCA2695237095IKBKGc.1198_1199insC (p.Ile400ThrfsTer8)
c.1234_1235insC (p.Ile412ThrfsTer8)
c.832_833insC (p.Ile278ThrfsTer8)
c.1081_1082insC (p.Ile361ThrfsTer8)
c.1291_1292insC (p.Ile431ThrfsTer8)
c.937_938insC (p.Ile313ThrfsTer8)
c.*1226_*1227insC (n.*1226_*1227insC)
c.1210_1211insC (p.Ile404ThrfsTer8)
c.1231_1232insC (p.Ile411ThrfsTer8)
c.1438_1439insC (p.Ile480ThrfsTer8)
c.1213_1214insC (p.Ile405ThrfsTer8)
c.1435_1436insC (p.Ile479ThrfsTer8)
c.1321+415_1321+416insC (n.1321+415_1321+416insC)
c.1285_1286insC (p.Ile429ThrfsTer8)
c.1078_1079insC (p.Ile360ThrfsTer8)
c.865_866insC (p.Ile289ThrfsTer8)
n.1103_1104insC
Xg.154564436T>ACA415220261IKBKGc.1199T>A (p.Ile400Lys)
c.1235T>A (p.Ile412Lys)
c.833T>A (p.Ile278Lys)
c.1082T>A (p.Ile361Lys)
c.1292T>A (p.Ile431Lys)
c.938T>A (p.Ile313Lys)
c.*1227T>A (n.*1227T>A)
c.1211T>A (p.Ile404Lys)
c.1232T>A (p.Ile411Lys)
c.1439T>A (p.Ile480Lys)
c.1214T>A (p.Ile405Lys)
c.1436T>A (p.Ile479Lys)
c.1321+416T>A (n.1321+416T>A)
c.1286T>A (p.Ile429Lys)
c.1079T>A (p.Ile360Lys)
c.866T>A (p.Ile289Lys)
n.1104T>A
Xg.154564436T>CCA415220265IKBKGc.1199T>C (p.Ile400Thr)
c.1235T>C (p.Ile412Thr)
c.833T>C (p.Ile278Thr)
c.1082T>C (p.Ile361Thr)
c.1292T>C (p.Ile431Thr)
c.938T>C (p.Ile313Thr)
c.*1227T>C (n.*1227T>C)
c.1211T>C (p.Ile404Thr)
c.1232T>C (p.Ile411Thr)
c.1439T>C (p.Ile480Thr)
c.1214T>C (p.Ile405Thr)
c.1436T>C (p.Ile479Thr)
c.1321+416T>C (n.1321+416T>C)
c.1286T>C (p.Ile429Thr)
c.1079T>C (p.Ile360Thr)
c.866T>C (p.Ile289Thr)
n.1104T>C
Xg.154564436T>GCA415220267IKBKGc.1199T>G (p.Ile400Arg)
c.1235T>G (p.Ile412Arg)
c.833T>G (p.Ile278Arg)
c.1082T>G (p.Ile361Arg)
c.1292T>G (p.Ile431Arg)
c.938T>G (p.Ile313Arg)
c.*1227T>G (n.*1227T>G)
c.1211T>G (p.Ile404Arg)
c.1232T>G (p.Ile411Arg)
c.1439T>G (p.Ile480Arg)
c.1214T>G (p.Ile405Arg)
c.1436T>G (p.Ile479Arg)
c.1321+416T>G (n.1321+416T>G)
c.1286T>G (p.Ile429Arg)
c.1079T>G (p.Ile360Arg)
c.866T>G (p.Ile289Arg)
n.1104T>G
Xg.154564437A>CCA519287247IKBKGc.1200A>C (p.Ile400=)
c.1236A>C (p.Ile412=)
c.834A>C (p.Ile278=)
c.1083A>C (p.Ile361=)
c.1293A>C (p.Ile431=)
c.939A>C (p.Ile313=)
c.*1228A>C (n.*1228A>C)
c.1212A>C (p.Ile404=)
c.1233A>C (p.Ile411=)
c.1440A>C (p.Ile480=)
c.1215A>C (p.Ile405=)
c.1437A>C (p.Ile479=)
c.1321+417A>C (n.1321+417A>C)
c.1287A>C (p.Ile429=)
c.1080A>C (p.Ile360=)
c.867A>C (p.Ile289=)
n.1105A>C
Xg.154564437A>GCA415220276IKBKGc.1200A>G (p.Ile400Met)
c.1236A>G (p.Ile412Met)
c.834A>G (p.Ile278Met)
c.1083A>G (p.Ile361Met)
c.1293A>G (p.Ile431Met)
c.939A>G (p.Ile313Met)
c.*1228A>G (n.*1228A>G)
c.1212A>G (p.Ile404Met)
c.1233A>G (p.Ile411Met)
c.1440A>G (p.Ile480Met)
c.1215A>G (p.Ile405Met)
c.1437A>G (p.Ile479Met)
c.1321+417A>G (n.1321+417A>G)
c.1287A>G (p.Ile429Met)
c.1080A>G (p.Ile360Met)
c.867A>G (p.Ile289Met)
n.1105A>G
Xg.154564437A>TCA519287248IKBKGc.1200A>T (p.Ile400=)
c.1236A>T (p.Ile412=)
c.834A>T (p.Ile278=)
c.1083A>T (p.Ile361=)
c.1293A>T (p.Ile431=)
c.939A>T (p.Ile313=)
c.*1228A>T (n.*1228A>T)
c.1212A>T (p.Ile404=)
c.1233A>T (p.Ile411=)
c.1440A>T (p.Ile480=)
c.1215A>T (p.Ile405=)
c.1437A>T (p.Ile479=)
c.1321+417A>T (n.1321+417A>T)
c.1287A>T (p.Ile429=)
c.1080A>T (p.Ile360=)
c.867A>T (p.Ile289=)
n.1105A>T
Xg.154564438C>ACA415220290IKBKGc.1201C>A (p.His401Asn)
c.1237C>A (p.His413Asn)
c.835C>A (p.His279Asn)
c.1084C>A (p.His362Asn)
c.1294C>A (p.His432Asn)
c.940C>A (p.His314Asn)
c.*1229C>A (n.*1229C>A)
c.1213C>A (p.His405Asn)
c.1234C>A (p.His412Asn)
c.1441C>A (p.His481Asn)
c.1216C>A (p.His406Asn)
c.1438C>A (p.His480Asn)
c.1321+418C>A (n.1321+418C>A)
c.1288C>A (p.His430Asn)
c.1081C>A (p.His361Asn)
c.868C>A (p.His290Asn)
n.1106C>A
Xg.154564438C>GCA415220301IKBKGc.1201C>G (p.His401Asp)
c.1237C>G (p.His413Asp)
c.835C>G (p.His279Asp)
c.1084C>G (p.His362Asp)
c.1294C>G (p.His432Asp)
c.940C>G (p.His314Asp)
c.*1229C>G (n.*1229C>G)
c.1213C>G (p.His405Asp)
c.1234C>G (p.His412Asp)
c.1441C>G (p.His481Asp)
c.1216C>G (p.His406Asp)
c.1438C>G (p.His480Asp)
c.1321+418C>G (n.1321+418C>G)
c.1288C>G (p.His430Asp)
c.1081C>G (p.His361Asp)
c.868C>G (p.His290Asp)
n.1106C>G
Xg.154564438C>TCA415220303IKBKGc.1201C>T (p.His401Tyr)
c.1237C>T (p.His413Tyr)
c.835C>T (p.His279Tyr)
c.1084C>T (p.His362Tyr)
c.1294C>T (p.His432Tyr)
c.940C>T (p.His314Tyr)
c.*1229C>T (n.*1229C>T)
c.1213C>T (p.His405Tyr)
c.1234C>T (p.His412Tyr)
c.1441C>T (p.His481Tyr)
c.1216C>T (p.His406Tyr)
c.1438C>T (p.His480Tyr)
c.1321+418C>T (n.1321+418C>T)
c.1288C>T (p.His430Tyr)
c.1081C>T (p.His361Tyr)
c.868C>T (p.His290Tyr)
n.1106C>T
Xg.154564439A>CCA415220309IKBKGc.1202A>C (p.His401Pro)
c.1238A>C (p.His413Pro)
c.836A>C (p.His279Pro)
c.1085A>C (p.His362Pro)
c.1295A>C (p.His432Pro)
c.941A>C (p.His314Pro)
c.*1230A>C (n.*1230A>C)
c.1214A>C (p.His405Pro)
c.1235A>C (p.His412Pro)
c.1442A>C (p.His481Pro)
c.1217A>C (p.His406Pro)
c.1439A>C (p.His480Pro)
c.1321+419A>C (n.1321+419A>C)
c.1289A>C (p.His430Pro)
c.1082A>C (p.His361Pro)
c.869A>C (p.His290Pro)
n.1107A>C
Xg.154564439A>GCA415220308IKBKGc.1202A>G (p.His401Arg)
c.1238A>G (p.His413Arg)
c.836A>G (p.His279Arg)
c.1085A>G (p.His362Arg)
c.1295A>G (p.His432Arg)
c.941A>G (p.His314Arg)
c.*1230A>G (n.*1230A>G)
c.1214A>G (p.His405Arg)
c.1235A>G (p.His412Arg)
c.1442A>G (p.His481Arg)
c.1217A>G (p.His406Arg)
c.1439A>G (p.His480Arg)
c.1321+419A>G (n.1321+419A>G)
c.1289A>G (p.His430Arg)
c.1082A>G (p.His361Arg)
c.869A>G (p.His290Arg)
n.1107A>G
Xg.154564439A>TCA415220307IKBKGc.1202A>T (p.His401Leu)
c.1238A>T (p.His413Leu)
c.836A>T (p.His279Leu)
c.1085A>T (p.His362Leu)
c.1295A>T (p.His432Leu)
c.941A>T (p.His314Leu)
c.*1230A>T (n.*1230A>T)
c.1214A>T (p.His405Leu)
c.1235A>T (p.His412Leu)
c.1442A>T (p.His481Leu)
c.1217A>T (p.His406Leu)
c.1439A>T (p.His480Leu)
c.1321+419A>T (n.1321+419A>T)
c.1289A>T (p.His430Leu)
c.1082A>T (p.His361Leu)
c.869A>T (p.His290Leu)
n.1107A>T
Xg.154564440T>ACA415220319IKBKGc.1203T>A (p.His401Gln)
c.1239T>A (p.His413Gln)
c.837T>A (p.His279Gln)
c.1086T>A (p.His362Gln)
c.1296T>A (p.His432Gln)
c.942T>A (p.His314Gln)
c.*1231T>A (n.*1231T>A)
c.1215T>A (p.His405Gln)
c.1236T>A (p.His412Gln)
c.1443T>A (p.His481Gln)
c.1218T>A (p.His406Gln)
c.1440T>A (p.His480Gln)
c.1321+420T>A (n.1321+420T>A)
c.1290T>A (p.His430Gln)
c.1083T>A (p.His361Gln)
c.870T>A (p.His290Gln)
n.1108T>A
Xg.154564440T>CCA519287249IKBKGc.1203T>C (p.His401=)
c.1239T>C (p.His413=)
c.837T>C (p.His279=)
c.1086T>C (p.His362=)
c.1296T>C (p.His432=)
c.942T>C (p.His314=)
c.*1231T>C (n.*1231T>C)
c.1215T>C (p.His405=)
c.1236T>C (p.His412=)
c.1443T>C (p.His481=)
c.1218T>C (p.His406=)
c.1440T>C (p.His480=)
c.1321+420T>C (n.1321+420T>C)
c.1290T>C (p.His430=)
c.1083T>C (p.His361=)
c.870T>C (p.His290=)
n.1108T>C
 dbSNP gnomAD v2
Xg.154564440T>GCA415220314IKBKGc.1203T>G (p.His401Gln)
c.1239T>G (p.His413Gln)
c.837T>G (p.His279Gln)
c.1086T>G (p.His362Gln)
c.1296T>G (p.His432Gln)
c.942T>G (p.His314Gln)
c.*1231T>G (n.*1231T>G)
c.1215T>G (p.His405Gln)
c.1236T>G (p.His412Gln)
c.1443T>G (p.His481Gln)
c.1218T>G (p.His406Gln)
c.1440T>G (p.His480Gln)
c.1321+420T>G (n.1321+420T>G)
c.1290T>G (p.His430Gln)
c.1083T>G (p.His361Gln)
c.870T>G (p.His290Gln)
n.1108T>G
Xg.154564440T=CA2466734065IKBKGc.1203T= (p.His401=)
c.1239T= (p.His413=)
c.837T= (p.His279=)
c.1086T= (p.His362=)
c.1296T= (p.His432=)
c.942T= (p.His314=)
c.*1231T= (n.*1231T=)
c.1215T= (p.His405=)
c.1236T= (p.His412=)
c.1443T= (p.His481=)
c.1218T= (p.His406=)
c.1440T= (p.His480=)
c.1321+420T= (n.1321+420T=)
c.1290T= (p.His430=)
c.1083T= (p.His361=)
c.870T= (p.His290=)
n.1108T=
Xg.154564441G>ACA415220324IKBKGc.1204G>A (p.Val402Ile)
c.1240G>A (p.Val414Ile)
c.838G>A (p.Val280Ile)
c.1087G>A (p.Val363Ile)
c.1297G>A (p.Val433Ile)
c.943G>A (p.Val315Ile)
c.*1232G>A (n.*1232G>A)
c.1216G>A (p.Val406Ile)
c.1237G>A (p.Val413Ile)
c.1444G>A (p.Val482Ile)
c.1219G>A (p.Val407Ile)
c.1441G>A (p.Val481Ile)
c.1321+421G>A (n.1321+421G>A)
c.1291G>A (p.Val431Ile)
c.1084G>A (p.Val362Ile)
c.871G>A (p.Val291Ile)
n.1109G>A
Xg.154564441G>CCA415220326IKBKGc.1204G>C (p.Val402Leu)
c.1240G>C (p.Val414Leu)
c.838G>C (p.Val280Leu)
c.1087G>C (p.Val363Leu)
c.1297G>C (p.Val433Leu)
c.943G>C (p.Val315Leu)
c.*1232G>C (n.*1232G>C)
c.1216G>C (p.Val406Leu)
c.1237G>C (p.Val413Leu)
c.1444G>C (p.Val482Leu)
c.1219G>C (p.Val407Leu)
c.1441G>C (p.Val481Leu)
c.1321+421G>C (n.1321+421G>C)
c.1291G>C (p.Val431Leu)
c.1084G>C (p.Val362Leu)
c.871G>C (p.Val291Leu)
n.1109G>C
Xg.154564441G>TCA415220328IKBKGc.1204G>T (p.Val402Phe)
c.1240G>T (p.Val414Phe)
c.838G>T (p.Val280Phe)
c.1087G>T (p.Val363Phe)
c.1297G>T (p.Val433Phe)
c.943G>T (p.Val315Phe)
c.*1232G>T (n.*1232G>T)
c.1216G>T (p.Val406Phe)
c.1237G>T (p.Val413Phe)
c.1444G>T (p.Val482Phe)
c.1219G>T (p.Val407Phe)
c.1441G>T (p.Val481Phe)
c.1321+421G>T (n.1321+421G>T)
c.1291G>T (p.Val431Phe)
c.1084G>T (p.Val362Phe)
c.871G>T (p.Val291Phe)
n.1109G>T
Xg.154564442T>ACA415220331IKBKGc.1205T>A (p.Val402Asp)
c.1241T>A (p.Val414Asp)
c.839T>A (p.Val280Asp)
c.1088T>A (p.Val363Asp)
c.1298T>A (p.Val433Asp)
c.944T>A (p.Val315Asp)
c.*1233T>A (n.*1233T>A)
c.1217T>A (p.Val406Asp)
c.1238T>A (p.Val413Asp)
c.1445T>A (p.Val482Asp)
c.1220T>A (p.Val407Asp)
c.1442T>A (p.Val481Asp)
c.1321+422T>A (n.1321+422T>A)
c.1292T>A (p.Val431Asp)
c.1085T>A (p.Val362Asp)
c.872T>A (p.Val291Asp)
n.1110T>A
Xg.154564442T>CCA415220334IKBKGc.1205T>C (p.Val402Ala)
c.1241T>C (p.Val414Ala)
c.839T>C (p.Val280Ala)
c.1088T>C (p.Val363Ala)
c.1298T>C (p.Val433Ala)
c.944T>C (p.Val315Ala)
c.*1233T>C (n.*1233T>C)
c.1217T>C (p.Val406Ala)
c.1238T>C (p.Val413Ala)
c.1445T>C (p.Val482Ala)
c.1220T>C (p.Val407Ala)
c.1442T>C (p.Val481Ala)
c.1321+422T>C (n.1321+422T>C)
c.1292T>C (p.Val431Ala)
c.1085T>C (p.Val362Ala)
c.872T>C (p.Val291Ala)
n.1110T>C
Xg.154564442T>GCA415220336IKBKGc.1205T>G (p.Val402Gly)
c.1241T>G (p.Val414Gly)
c.839T>G (p.Val280Gly)
c.1088T>G (p.Val363Gly)
c.1298T>G (p.Val433Gly)
c.944T>G (p.Val315Gly)
c.*1233T>G (n.*1233T>G)
c.1217T>G (p.Val406Gly)
c.1238T>G (p.Val413Gly)
c.1445T>G (p.Val482Gly)
c.1220T>G (p.Val407Gly)
c.1442T>G (p.Val481Gly)
c.1321+422T>G (n.1321+422T>G)
c.1292T>G (p.Val431Gly)
c.1085T>G (p.Val362Gly)
c.872T>G (p.Val291Gly)
n.1110T>G
Xg.154564443C>ACA519287250IKBKGc.1206C>A (p.Val402=)
c.1242C>A (p.Val414=)
c.840C>A (p.Val280=)
c.1089C>A (p.Val363=)
c.1299C>A (p.Val433=)
c.945C>A (p.Val315=)
c.*1234C>A (n.*1234C>A)
c.1218C>A (p.Val406=)
c.1239C>A (p.Val413=)
c.1446C>A (p.Val482=)
c.1221C>A (p.Val407=)
c.1443C>A (p.Val481=)
c.1321+423C>A (n.1321+423C>A)
c.1293C>A (p.Val431=)
c.1086C>A (p.Val362=)
c.873C>A (p.Val291=)
n.1111C>A
Xg.154564443C=CA2466734066IKBKGc.1206C= (p.Val402=)
c.1242C= (p.Val414=)
c.840C= (p.Val280=)
c.1089C= (p.Val363=)
c.1299C= (p.Val433=)
c.945C= (p.Val315=)
c.*1234C= (n.*1234C=)
c.1218C= (p.Val406=)
c.1239C= (p.Val413=)
c.1446C= (p.Val482=)
c.1221C= (p.Val407=)
c.1443C= (p.Val481=)
c.1321+423C= (n.1321+423C=)
c.1293C= (p.Val431=)
c.1086C= (p.Val362=)
c.873C= (p.Val291=)
n.1111C=
Xg.154564443C>GCA519287251IKBKGc.1206C>G (p.Val402=)
c.1242C>G (p.Val414=)
c.840C>G (p.Val280=)
c.1089C>G (p.Val363=)
c.1299C>G (p.Val433=)
c.945C>G (p.Val315=)
c.*1234C>G (n.*1234C>G)
c.1218C>G (p.Val406=)
c.1239C>G (p.Val413=)
c.1446C>G (p.Val482=)
c.1221C>G (p.Val407=)
c.1443C>G (p.Val481=)
c.1321+423C>G (n.1321+423C>G)
c.1293C>G (p.Val431=)
c.1086C>G (p.Val362=)
c.873C>G (p.Val291=)
n.1111C>G
 dbSNP gnomAD v2
Xg.154564443C>TCA519287252IKBKGc.1206C>T (p.Val402=)
c.1242C>T (p.Val414=)
c.840C>T (p.Val280=)
c.1089C>T (p.Val363=)
c.1299C>T (p.Val433=)
c.945C>T (p.Val315=)
c.*1234C>T (n.*1234C>T)
c.1218C>T (p.Val406=)
c.1239C>T (p.Val413=)
c.1446C>T (p.Val482=)
c.1221C>T (p.Val407=)
c.1443C>T (p.Val481=)
c.1321+423C>T (n.1321+423C>T)
c.1293C>T (p.Val431=)
c.1086C>T (p.Val362=)
c.873C>T (p.Val291=)
n.1111C>T
Xg.154564444A>CCA415220338IKBKGc.1207A>C (p.Met403Leu)
c.1243A>C (p.Met415Leu)
c.841A>C (p.Met281Leu)
c.1090A>C (p.Met364Leu)
c.1300A>C (p.Met434Leu)
c.946A>C (p.Met316Leu)
c.*1235A>C (n.*1235A>C)
c.1219A>C (p.Met407Leu)
c.1240A>C (p.Met414Leu)
c.1447A>C (p.Met483Leu)
c.1222A>C (p.Met408Leu)
c.1444A>C (p.Met482Leu)
c.1321+424A>C (n.1321+424A>C)
c.1294A>C (p.Met432Leu)
c.1087A>C (p.Met363Leu)
c.874A>C (p.Met292Leu)
n.1112A>C
Xg.154564444A>GCA415220340IKBKGc.1207A>G (p.Met403Val)
c.1243A>G (p.Met415Val)
c.841A>G (p.Met281Val)
c.1090A>G (p.Met364Val)
c.1300A>G (p.Met434Val)
c.946A>G (p.Met316Val)
c.*1235A>G (n.*1235A>G)
c.1219A>G (p.Met407Val)
c.1240A>G (p.Met414Val)
c.1447A>G (p.Met483Val)
c.1222A>G (p.Met408Val)
c.1444A>G (p.Met482Val)
c.1321+424A>G (n.1321+424A>G)
c.1294A>G (p.Met432Val)
c.1087A>G (p.Met363Val)
c.874A>G (p.Met292Val)
n.1112A>G
Xg.154564444A>TCA415220347IKBKGc.1207A>T (p.Met403Leu)
c.1243A>T (p.Met415Leu)
c.841A>T (p.Met281Leu)
c.1090A>T (p.Met364Leu)
c.1300A>T (p.Met434Leu)
c.946A>T (p.Met316Leu)
c.*1235A>T (n.*1235A>T)
c.1219A>T (p.Met407Leu)
c.1240A>T (p.Met414Leu)
c.1447A>T (p.Met483Leu)
c.1222A>T (p.Met408Leu)
c.1444A>T (p.Met482Leu)
c.1321+424A>T (n.1321+424A>T)
c.1294A>T (p.Met432Leu)
c.1087A>T (p.Met363Leu)
c.874A>T (p.Met292Leu)
n.1112A>T
Xg.154564445T>ACA415220350IKBKGc.1208T>A (p.Met403Lys)
c.1244T>A (p.Met415Lys)
c.842T>A (p.Met281Lys)
c.1091T>A (p.Met364Lys)
c.1301T>A (p.Met434Lys)
c.947T>A (p.Met316Lys)
c.*1236T>A (n.*1236T>A)
c.1220T>A (p.Met407Lys)
c.1241T>A (p.Met414Lys)
c.1448T>A (p.Met483Lys)
c.1223T>A (p.Met408Lys)
c.1445T>A (p.Met482Lys)
c.1321+425T>A (n.1321+425T>A)
c.1295T>A (p.Met432Lys)
c.1088T>A (p.Met363Lys)
c.875T>A (p.Met292Lys)
n.1113T>A
Xg.154564445T>CCA415220355IKBKGc.1208T>C (p.Met403Thr)
c.1244T>C (p.Met415Thr)
c.842T>C (p.Met281Thr)
c.1091T>C (p.Met364Thr)
c.1301T>C (p.Met434Thr)
c.947T>C (p.Met316Thr)
c.*1236T>C (n.*1236T>C)
c.1220T>C (p.Met407Thr)
c.1241T>C (p.Met414Thr)
c.1448T>C (p.Met483Thr)
c.1223T>C (p.Met408Thr)
c.1445T>C (p.Met482Thr)
c.1321+425T>C (n.1321+425T>C)
c.1295T>C (p.Met432Thr)
c.1088T>C (p.Met363Thr)
c.875T>C (p.Met292Thr)
n.1113T>C
Xg.154564445T>GCA415220360IKBKGc.1208T>G (p.Met403Arg)
c.1244T>G (p.Met415Arg)
c.842T>G (p.Met281Arg)
c.1091T>G (p.Met364Arg)
c.1301T>G (p.Met434Arg)
c.947T>G (p.Met316Arg)
c.*1236T>G (n.*1236T>G)
c.1220T>G (p.Met407Arg)
c.1241T>G (p.Met414Arg)
c.1448T>G (p.Met483Arg)
c.1223T>G (p.Met408Arg)
c.1445T>G (p.Met482Arg)
c.1321+425T>G (n.1321+425T>G)
c.1295T>G (p.Met432Arg)
c.1088T>G (p.Met363Arg)
c.875T>G (p.Met292Arg)
n.1113T>G
Xg.154564445dupCA2573320573IKBKGc.1208dup (p.Met403IlefsTer5)
c.1244dup (p.Met415IlefsTer5)
c.842dup (p.Met281IlefsTer5)
c.1091dup (p.Met364IlefsTer5)
c.1301dup (p.Met434IlefsTer5)
c.947dup (p.Met316IlefsTer5)
c.*1236dup (n.*1236dup)
c.1220dup (p.Met407IlefsTer5)
c.1241dup (p.Met414IlefsTer5)
c.1448dup (p.Met483IlefsTer5)
c.1223dup (p.Met408IlefsTer5)
c.1445dup (p.Met482IlefsTer5)
c.1321+425dup (n.1321+425dup)
c.1295dup (p.Met432IlefsTer5)
c.1088dup (p.Met363IlefsTer5)
c.875dup (p.Met292IlefsTer5)
n.1113dup
Xg.154564446G>ACA415220364IKBKGc.1209G>A (p.Met403Ile)
c.1245G>A (p.Met415Ile)
c.843G>A (p.Met281Ile)
c.1092G>A (p.Met364Ile)
c.1302G>A (p.Met434Ile)
c.948G>A (p.Met316Ile)
c.*1237G>A (n.*1237G>A)
c.1221G>A (p.Met407Ile)
c.1242G>A (p.Met414Ile)
c.1449G>A (p.Met483Ile)
c.1224G>A (p.Met408Ile)
c.1446G>A (p.Met482Ile)
c.1321+426G>A (n.1321+426G>A)
c.1296G>A (p.Met432Ile)
c.1089G>A (p.Met363Ile)
c.876G>A (p.Met292Ile)
n.1114G>A
Xg.154564446G>CCA415220374IKBKGc.1209G>C (p.Met403Ile)
c.1245G>C (p.Met415Ile)
c.843G>C (p.Met281Ile)
c.1092G>C (p.Met364Ile)
c.1302G>C (p.Met434Ile)
c.948G>C (p.Met316Ile)
c.*1237G>C (n.*1237G>C)
c.1221G>C (p.Met407Ile)
c.1242G>C (p.Met414Ile)
c.1449G>C (p.Met483Ile)
c.1224G>C (p.Met408Ile)
c.1446G>C (p.Met482Ile)
c.1321+426G>C (n.1321+426G>C)
c.1296G>C (p.Met432Ile)
c.1089G>C (p.Met363Ile)
c.876G>C (p.Met292Ile)
n.1114G>C
Xg.154564446G>TCA415220370IKBKGc.1209G>T (p.Met403Ile)
c.1245G>T (p.Met415Ile)
c.843G>T (p.Met281Ile)
c.1092G>T (p.Met364Ile)
c.1302G>T (p.Met434Ile)
c.948G>T (p.Met316Ile)
c.*1237G>T (n.*1237G>T)
c.1221G>T (p.Met407Ile)
c.1242G>T (p.Met414Ile)
c.1449G>T (p.Met483Ile)
c.1224G>T (p.Met408Ile)
c.1446G>T (p.Met482Ile)
c.1321+426G>T (n.1321+426G>T)
c.1296G>T (p.Met432Ile)
c.1089G>T (p.Met363Ile)
c.876G>T (p.Met292Ile)
n.1114G>T
Xg.154564447G>ACA415220382IKBKGc.1210G>A (p.Glu404Lys)
c.1246G>A (p.Glu416Lys)
c.844G>A (p.Glu282Lys)
c.1093G>A (p.Glu365Lys)
c.1303G>A (p.Glu435Lys)
c.949G>A (p.Glu317Lys)
c.*1238G>A (n.*1238G>A)
c.1222G>A (p.Glu408Lys)
c.1243G>A (p.Glu415Lys)
c.1450G>A (p.Glu484Lys)
c.1225G>A (p.Glu409Lys)
c.1447G>A (p.Glu483Lys)
c.1321+427G>A (n.1321+427G>A)
c.1297G>A (p.Glu433Lys)
c.1090G>A (p.Glu364Lys)
c.877G>A (p.Glu293Lys)
n.1115G>A
Xg.154564447G>CCA415220390IKBKGc.1210G>C (p.Glu404Gln)
c.1246G>C (p.Glu416Gln)
c.844G>C (p.Glu282Gln)
c.1093G>C (p.Glu365Gln)
c.1303G>C (p.Glu435Gln)
c.949G>C (p.Glu317Gln)
c.*1238G>C (n.*1238G>C)
c.1222G>C (p.Glu408Gln)
c.1243G>C (p.Glu415Gln)
c.1450G>C (p.Glu484Gln)
c.1225G>C (p.Glu409Gln)
c.1447G>C (p.Glu483Gln)
c.1321+427G>C (n.1321+427G>C)
c.1297G>C (p.Glu433Gln)
c.1090G>C (p.Glu364Gln)
c.877G>C (p.Glu293Gln)
n.1115G>C
Xg.154564447G>TCA415220396IKBKGc.1210G>T (p.Glu404Ter)
c.1246G>T (p.Glu416Ter)
c.844G>T (p.Glu282Ter)
c.1093G>T (p.Glu365Ter)
c.1303G>T (p.Glu435Ter)
c.949G>T (p.Glu317Ter)
c.*1238G>T (n.*1238G>T)
c.1222G>T (p.Glu408Ter)
c.1243G>T (p.Glu415Ter)
c.1450G>T (p.Glu484Ter)
c.1225G>T (p.Glu409Ter)
c.1447G>T (p.Glu483Ter)
c.1321+427G>T (n.1321+427G>T)
c.1297G>T (p.Glu433Ter)
c.1090G>T (p.Glu364Ter)
c.877G>T (p.Glu293Ter)
n.1115G>T
Xg.154564448A>CCA415220400IKBKGc.1211A>C (p.Glu404Ala)
c.1247A>C (p.Glu416Ala)
c.845A>C (p.Glu282Ala)
c.1094A>C (p.Glu365Ala)
c.1304A>C (p.Glu435Ala)
c.950A>C (p.Glu317Ala)
c.*1239A>C (n.*1239A>C)
c.1223A>C (p.Glu408Ala)
c.1244A>C (p.Glu415Ala)
c.1451A>C (p.Glu484Ala)
c.1226A>C (p.Glu409Ala)
c.1448A>C (p.Glu483Ala)
c.1321+428A>C (n.1321+428A>C)
c.1298A>C (p.Glu433Ala)
c.1091A>C (p.Glu364Ala)
c.878A>C (p.Glu293Ala)
n.1116A>C
Xg.154564448A>GCA415220402IKBKGc.1211A>G (p.Glu404Gly)
c.1247A>G (p.Glu416Gly)
c.845A>G (p.Glu282Gly)
c.1094A>G (p.Glu365Gly)
c.1304A>G (p.Glu435Gly)
c.950A>G (p.Glu317Gly)
c.*1239A>G (n.*1239A>G)
c.1223A>G (p.Glu408Gly)
c.1244A>G (p.Glu415Gly)
c.1451A>G (p.Glu484Gly)
c.1226A>G (p.Glu409Gly)
c.1448A>G (p.Glu483Gly)
c.1321+428A>G (n.1321+428A>G)
c.1298A>G (p.Glu433Gly)
c.1091A>G (p.Glu364Gly)
c.878A>G (p.Glu293Gly)
n.1116A>G
Xg.154564448A>TCA415220407IKBKGc.1211A>T (p.Glu404Val)
c.1247A>T (p.Glu416Val)
c.845A>T (p.Glu282Val)
c.1094A>T (p.Glu365Val)
c.1304A>T (p.Glu435Val)
c.950A>T (p.Glu317Val)
c.*1239A>T (n.*1239A>T)
c.1223A>T (p.Glu408Val)
c.1244A>T (p.Glu415Val)
c.1451A>T (p.Glu484Val)
c.1226A>T (p.Glu409Val)
c.1448A>T (p.Glu483Val)
c.1321+428A>T (n.1321+428A>T)
c.1298A>T (p.Glu433Val)
c.1091A>T (p.Glu364Val)
c.878A>T (p.Glu293Val)
n.1116A>T
Xg.154564449G>ACA519287253IKBKGc.1212G>A (p.Glu404=)
c.1248G>A (p.Glu416=)
c.846G>A (p.Glu282=)
c.1095G>A (p.Glu365=)
c.1305G>A (p.Glu435=)
c.951G>A (p.Glu317=)
c.*1240G>A (n.*1240G>A)
c.1224G>A (p.Glu408=)
c.1245G>A (p.Glu415=)
c.1452G>A (p.Glu484=)
c.1227G>A (p.Glu409=)
c.1449G>A (p.Glu483=)
c.1321+429G>A (n.1321+429G>A)
c.1299G>A (p.Glu433=)
c.1092G>A (p.Glu364=)
c.879G>A (p.Glu293=)
n.1117G>A
Xg.154564449G>CCA415220426IKBKGc.1212G>C (p.Glu404Asp)
c.1248G>C (p.Glu416Asp)
c.846G>C (p.Glu282Asp)
c.1095G>C (p.Glu365Asp)
c.1305G>C (p.Glu435Asp)
c.951G>C (p.Glu317Asp)
c.*1240G>C (n.*1240G>C)
c.1224G>C (p.Glu408Asp)
c.1245G>C (p.Glu415Asp)
c.1452G>C (p.Glu484Asp)
c.1227G>C (p.Glu409Asp)
c.1449G>C (p.Glu483Asp)
c.1321+429G>C (n.1321+429G>C)
c.1299G>C (p.Glu433Asp)
c.1092G>C (p.Glu364Asp)
c.879G>C (p.Glu293Asp)
n.1117G>C
Xg.154564449G>TCA415220431IKBKGc.1212G>T (p.Glu404Asp)
c.1248G>T (p.Glu416Asp)
c.846G>T (p.Glu282Asp)
c.1095G>T (p.Glu365Asp)
c.1305G>T (p.Glu435Asp)
c.951G>T (p.Glu317Asp)
c.*1240G>T (n.*1240G>T)
c.1224G>T (p.Glu408Asp)
c.1245G>T (p.Glu415Asp)
c.1452G>T (p.Glu484Asp)
c.1227G>T (p.Glu409Asp)
c.1449G>T (p.Glu483Asp)
c.1321+429G>T (n.1321+429G>T)
c.1299G>T (p.Glu433Asp)
c.1092G>T (p.Glu364Asp)
c.879G>T (p.Glu293Asp)
n.1117G>T
Xg.154564450T>ACA415220435IKBKGc.1213T>A (p.Cys405Ser)
c.1249T>A (p.Cys417Ser)
c.847T>A (p.Cys283Ser)
c.1096T>A (p.Cys366Ser)
c.1306T>A (p.Cys436Ser)
c.952T>A (p.Cys318Ser)
c.*1241T>A (n.*1241T>A)
c.1225T>A (p.Cys409Ser)
c.1246T>A (p.Cys416Ser)
c.1453T>A (p.Cys485Ser)
c.1228T>A (p.Cys410Ser)
c.1450T>A (p.Cys484Ser)
c.1321+430T>A (n.1321+430T>A)
c.1300T>A (p.Cys434Ser)
c.1093T>A (p.Cys365Ser)
c.880T>A (p.Cys294Ser)
n.1118T>A
Xg.154564450T>CCA121473IKBKGc.1213T>C (p.Cys405Arg)
c.1249T>C (p.Cys417Arg)
c.847T>C (p.Cys283Arg)
c.1096T>C (p.Cys366Arg)
c.1306T>C (p.Cys436Arg)
c.952T>C (p.Cys318Arg)
c.*1241T>C (n.*1241T>C)
c.1225T>C (p.Cys409Arg)
c.1246T>C (p.Cys416Arg)
c.1453T>C (p.Cys485Arg)
c.1228T>C (p.Cys410Arg)
c.1450T>C (p.Cys484Arg)
c.1321+430T>C (n.1321+430T>C)
c.1300T>C (p.Cys434Arg)
c.1093T>C (p.Cys365Arg)
c.880T>C (p.Cys294Arg)
n.1118T>C
 ClinVar dbSNP
Xg.154564450T>GCA415220450IKBKGc.1213T>G (p.Cys405Gly)
c.1249T>G (p.Cys417Gly)
c.847T>G (p.Cys283Gly)
c.1096T>G (p.Cys366Gly)
c.1306T>G (p.Cys436Gly)
c.952T>G (p.Cys318Gly)
c.*1241T>G (n.*1241T>G)
c.1225T>G (p.Cys409Gly)
c.1246T>G (p.Cys416Gly)
c.1453T>G (p.Cys485Gly)
c.1228T>G (p.Cys410Gly)
c.1450T>G (p.Cys484Gly)
c.1321+430T>G (n.1321+430T>G)
c.1300T>G (p.Cys434Gly)
c.1093T>G (p.Cys365Gly)
c.880T>G (p.Cys294Gly)
n.1118T>G
Xg.154564450T=CA2466734067IKBKGc.1213T= (p.Cys405=)
c.1249T= (p.Cys417=)
c.847T= (p.Cys283=)
c.1096T= (p.Cys366=)
c.1306T= (p.Cys436=)
c.952T= (p.Cys318=)
c.*1241T= (n.*1241T=)
c.1225T= (p.Cys409=)
c.1246T= (p.Cys416=)
c.1453T= (p.Cys485=)
c.1228T= (p.Cys410=)
c.1450T= (p.Cys484=)
c.1321+430T= (n.1321+430T=)
c.1300T= (p.Cys434=)
c.1093T= (p.Cys365=)
c.880T= (p.Cys294=)
n.1118T=
Xg.154564451G>ACA219219IKBKGc.1214G>A (p.Cys405Tyr)
c.1250G>A (p.Cys417Tyr)
c.848G>A (p.Cys283Tyr)
c.1097G>A (p.Cys366Tyr)
c.1307G>A (p.Cys436Tyr)
c.953G>A (p.Cys318Tyr)
c.*1242G>A (n.*1242G>A)
c.1226G>A (p.Cys409Tyr)
c.1247G>A (p.Cys416Tyr)
c.1454G>A (p.Cys485Tyr)
c.1229G>A (p.Cys410Tyr)
c.1451G>A (p.Cys484Tyr)
c.1321+431G>A (n.1321+431G>A)
c.1301G>A (p.Cys434Tyr)
c.1094G>A (p.Cys365Tyr)
c.881G>A (p.Cys294Tyr)
n.1119G>A
 ClinVar dbSNP
Xg.154564451G>CCA415220460IKBKGc.1214G>C (p.Cys405Ser)
c.1250G>C (p.Cys417Ser)
c.848G>C (p.Cys283Ser)
c.1097G>C (p.Cys366Ser)
c.1307G>C (p.Cys436Ser)
c.953G>C (p.Cys318Ser)
c.*1242G>C (n.*1242G>C)
c.1226G>C (p.Cys409Ser)
c.1247G>C (p.Cys416Ser)
c.1454G>C (p.Cys485Ser)
c.1229G>C (p.Cys410Ser)
c.1451G>C (p.Cys484Ser)
c.1321+431G>C (n.1321+431G>C)
c.1301G>C (p.Cys434Ser)
c.1094G>C (p.Cys365Ser)
c.881G>C (p.Cys294Ser)
n.1119G>C
Xg.154564451G=CA2466734068IKBKGc.1214G= (p.Cys405=)
c.1250G= (p.Cys417=)
c.848G= (p.Cys283=)
c.1097G= (p.Cys366=)
c.1307G= (p.Cys436=)
c.953G= (p.Cys318=)
c.*1242G= (n.*1242G=)
c.1226G= (p.Cys409=)
c.1247G= (p.Cys416=)
c.1454G= (p.Cys485=)
c.1229G= (p.Cys410=)
c.1451G= (p.Cys484=)
c.1321+431G= (n.1321+431G=)
c.1301G= (p.Cys434=)
c.1094G= (p.Cys365=)
c.881G= (p.Cys294=)
n.1119G=
Xg.154564451G>TCA121476IKBKGc.1214G>T (p.Cys405Phe)
c.1250G>T (p.Cys417Phe)
c.848G>T (p.Cys283Phe)
c.1097G>T (p.Cys366Phe)
c.1307G>T (p.Cys436Phe)
c.953G>T (p.Cys318Phe)
c.*1242G>T (n.*1242G>T)
c.1226G>T (p.Cys409Phe)
c.1247G>T (p.Cys416Phe)
c.1454G>T (p.Cys485Phe)
c.1229G>T (p.Cys410Phe)
c.1451G>T (p.Cys484Phe)
c.1321+431G>T (n.1321+431G>T)
c.1301G>T (p.Cys434Phe)
c.1094G>T (p.Cys365Phe)
c.881G>T (p.Cys294Phe)
n.1119G>T
 ClinVar dbSNP
Xg.154564452C>ACA415220470IKBKGc.1215C>A (p.Cys405Ter)
c.1251C>A (p.Cys417Ter)
c.849C>A (p.Cys283Ter)
c.1098C>A (p.Cys366Ter)
c.1308C>A (p.Cys436Ter)
c.954C>A (p.Cys318Ter)
c.*1243C>A (n.*1243C>A)
c.1227C>A (p.Cys409Ter)
c.1248C>A (p.Cys416Ter)
c.1455C>A (p.Cys485Ter)
c.1230C>A (p.Cys410Ter)
c.1452C>A (p.Cys484Ter)
c.1321+432C>A (n.1321+432C>A)
c.1302C>A (p.Cys434Ter)
c.1095C>A (p.Cys365Ter)
c.882C>A (p.Cys294Ter)
n.1120C>A
Xg.154564452C>GCA415220471IKBKGc.1215C>G (p.Cys405Trp)
c.1251C>G (p.Cys417Trp)
c.849C>G (p.Cys283Trp)
c.1098C>G (p.Cys366Trp)
c.1308C>G (p.Cys436Trp)
c.954C>G (p.Cys318Trp)
c.*1243C>G (n.*1243C>G)
c.1227C>G (p.Cys409Trp)
c.1248C>G (p.Cys416Trp)
c.1455C>G (p.Cys485Trp)
c.1230C>G (p.Cys410Trp)
c.1452C>G (p.Cys484Trp)
c.1321+432C>G (n.1321+432C>G)
c.1302C>G (p.Cys434Trp)
c.1095C>G (p.Cys365Trp)
c.882C>G (p.Cys294Trp)
n.1120C>G
Xg.154564452C>TCA519287254IKBKGc.1215C>T (p.Cys405=)
c.1251C>T (p.Cys417=)
c.849C>T (p.Cys283=)
c.1098C>T (p.Cys366=)
c.1308C>T (p.Cys436=)
c.954C>T (p.Cys318=)
c.*1243C>T (n.*1243C>T)
c.1227C>T (p.Cys409=)
c.1248C>T (p.Cys416=)
c.1455C>T (p.Cys485=)
c.1230C>T (p.Cys410=)
c.1452C>T (p.Cys484=)
c.1321+432C>T (n.1321+432C>T)
c.1302C>T (p.Cys434=)
c.1095C>T (p.Cys365=)
c.882C>T (p.Cys294=)
n.1120C>T
Xg.154564453A>CCA415220475IKBKGc.1216A>C (p.Ile406Leu)
c.1252A>C (p.Ile418Leu)
c.850A>C (p.Ile284Leu)
c.1099A>C (p.Ile367Leu)
c.1309A>C (p.Ile437Leu)
c.955A>C (p.Ile319Leu)
c.*1244A>C (n.*1244A>C)
c.1228A>C (p.Ile410Leu)
c.1249A>C (p.Ile417Leu)
c.1456A>C (p.Ile486Leu)
c.1231A>C (p.Ile411Leu)
c.1453A>C (p.Ile485Leu)
c.1321+433A>C (n.1321+433A>C)
c.1303A>C (p.Ile435Leu)
c.1096A>C (p.Ile366Leu)
c.883A>C (p.Ile295Leu)
n.1121A>C
Xg.154564453A>GCA415220476IKBKGc.1216A>G (p.Ile406Val)
c.1252A>G (p.Ile418Val)
c.850A>G (p.Ile284Val)
c.1099A>G (p.Ile367Val)
c.1309A>G (p.Ile437Val)
c.955A>G (p.Ile319Val)
c.*1244A>G (n.*1244A>G)
c.1228A>G (p.Ile410Val)
c.1249A>G (p.Ile417Val)
c.1456A>G (p.Ile486Val)
c.1231A>G (p.Ile411Val)
c.1453A>G (p.Ile485Val)
c.1321+433A>G (n.1321+433A>G)
c.1303A>G (p.Ile435Val)
c.1096A>G (p.Ile366Val)
c.883A>G (p.Ile295Val)
n.1121A>G
Xg.154564453A>TCA415220480IKBKGc.1216A>T (p.Ile406Phe)
c.1252A>T (p.Ile418Phe)
c.850A>T (p.Ile284Phe)
c.1099A>T (p.Ile367Phe)
c.1309A>T (p.Ile437Phe)
c.955A>T (p.Ile319Phe)
c.*1244A>T (n.*1244A>T)
c.1228A>T (p.Ile410Phe)
c.1249A>T (p.Ile417Phe)
c.1456A>T (p.Ile486Phe)
c.1231A>T (p.Ile411Phe)
c.1453A>T (p.Ile485Phe)
c.1321+433A>T (n.1321+433A>T)
c.1303A>T (p.Ile435Phe)
c.1096A>T (p.Ile366Phe)
c.883A>T (p.Ile295Phe)
n.1121A>T
Xg.154564454T>ACA415220486IKBKGc.1217T>A (p.Ile406Asn)
c.1253T>A (p.Ile418Asn)
c.851T>A (p.Ile284Asn)
c.1100T>A (p.Ile367Asn)
c.1310T>A (p.Ile437Asn)
c.956T>A (p.Ile319Asn)
c.*1245T>A (n.*1245T>A)
c.1229T>A (p.Ile410Asn)
c.1250T>A (p.Ile417Asn)
c.1457T>A (p.Ile486Asn)
c.1232T>A (p.Ile411Asn)
c.1454T>A (p.Ile485Asn)
c.1321+434T>A (n.1321+434T>A)
c.1304T>A (p.Ile435Asn)
c.1097T>A (p.Ile366Asn)
c.884T>A (p.Ile295Asn)
n.1122T>A
Xg.154564454T>CCA415220489IKBKGc.1217T>C (p.Ile406Thr)
c.1253T>C (p.Ile418Thr)
c.851T>C (p.Ile284Thr)
c.1100T>C (p.Ile367Thr)
c.1310T>C (p.Ile437Thr)
c.956T>C (p.Ile319Thr)
c.*1245T>C (n.*1245T>C)
c.1229T>C (p.Ile410Thr)
c.1250T>C (p.Ile417Thr)
c.1457T>C (p.Ile486Thr)
c.1232T>C (p.Ile411Thr)
c.1454T>C (p.Ile485Thr)
c.1321+434T>C (n.1321+434T>C)
c.1304T>C (p.Ile435Thr)
c.1097T>C (p.Ile366Thr)
c.884T>C (p.Ile295Thr)
n.1122T>C
Xg.154564454T>GCA415220491IKBKGc.1217T>G (p.Ile406Ser)
c.1253T>G (p.Ile418Ser)
c.851T>G (p.Ile284Ser)
c.1100T>G (p.Ile367Ser)
c.1310T>G (p.Ile437Ser)
c.956T>G (p.Ile319Ser)
c.*1245T>G (n.*1245T>G)
c.1229T>G (p.Ile410Ser)
c.1250T>G (p.Ile417Ser)
c.1457T>G (p.Ile486Ser)
c.1232T>G (p.Ile411Ser)
c.1454T>G (p.Ile485Ser)
c.1321+434T>G (n.1321+434T>G)
c.1304T>G (p.Ile435Ser)
c.1097T>G (p.Ile366Ser)
c.884T>G (p.Ile295Ser)
n.1122T>G
Xg.154564455T>ACA519287255IKBKGc.1218T>A (p.Ile406=)
c.1254T>A (p.Ile418=)
c.852T>A (p.Ile284=)
c.1101T>A (p.Ile367=)
c.1311T>A (p.Ile437=)
c.957T>A (p.Ile319=)
c.*1246T>A (n.*1246T>A)
c.1230T>A (p.Ile410=)
c.1251T>A (p.Ile417=)
c.1458T>A (p.Ile486=)
c.1233T>A (p.Ile411=)
c.1455T>A (p.Ile485=)
c.1321+435T>A (n.1321+435T>A)
c.1305T>A (p.Ile435=)
c.1098T>A (p.Ile366=)
c.885T>A (p.Ile295=)
n.1123T>A
Xg.154564455T>CCA519287256IKBKGc.1218T>C (p.Ile406=)
c.1254T>C (p.Ile418=)
c.852T>C (p.Ile284=)
c.1101T>C (p.Ile367=)
c.1311T>C (p.Ile437=)
c.957T>C (p.Ile319=)
c.*1246T>C (n.*1246T>C)
c.1230T>C (p.Ile410=)
c.1251T>C (p.Ile417=)
c.1458T>C (p.Ile486=)
c.1233T>C (p.Ile411=)
c.1455T>C (p.Ile485=)
c.1321+435T>C (n.1321+435T>C)
c.1305T>C (p.Ile435=)
c.1098T>C (p.Ile366=)
c.885T>C (p.Ile295=)
n.1123T>C
Xg.154564455T>GCA415220496IKBKGc.1218T>G (p.Ile406Met)
c.1254T>G (p.Ile418Met)
c.852T>G (p.Ile284Met)
c.1101T>G (p.Ile367Met)
c.1311T>G (p.Ile437Met)
c.957T>G (p.Ile319Met)
c.*1246T>G (n.*1246T>G)
c.1230T>G (p.Ile410Met)
c.1251T>G (p.Ile417Met)
c.1458T>G (p.Ile486Met)
c.1233T>G (p.Ile411Met)
c.1455T>G (p.Ile485Met)
c.1321+435T>G (n.1321+435T>G)
c.1305T>G (p.Ile435Met)
c.1098T>G (p.Ile366Met)
c.885T>G (p.Ile295Met)
n.1123T>G
Xg.154564456G>ACA415220502IKBKGc.1219G>A (p.Glu407Lys)
c.1255G>A (p.Glu419Lys)
c.853G>A (p.Glu285Lys)
c.1102G>A (p.Glu368Lys)
c.1312G>A (p.Glu438Lys)
c.958G>A (p.Glu320Lys)
c.*1247G>A (n.*1247G>A)
c.1231G>A (p.Glu411Lys)
c.1252G>A (p.Glu418Lys)
c.1459G>A (p.Glu487Lys)
c.1234G>A (p.Glu412Lys)
c.1456G>A (p.Glu486Lys)
c.1321+436G>A (n.1321+436G>A)
c.1306G>A (p.Glu436Lys)
c.1099G>A (p.Glu367Lys)
c.886G>A (p.Glu296Lys)
n.1124G>A
Xg.154564456G>CCA415220506IKBKGc.1219G>C (p.Glu407Gln)
c.1255G>C (p.Glu419Gln)
c.853G>C (p.Glu285Gln)
c.1102G>C (p.Glu368Gln)
c.1312G>C (p.Glu438Gln)
c.958G>C (p.Glu320Gln)
c.*1247G>C (n.*1247G>C)
c.1231G>C (p.Glu411Gln)
c.1252G>C (p.Glu418Gln)
c.1459G>C (p.Glu487Gln)
c.1234G>C (p.Glu412Gln)
c.1456G>C (p.Glu486Gln)
c.1321+436G>C (n.1321+436G>C)
c.1306G>C (p.Glu436Gln)
c.1099G>C (p.Glu367Gln)
c.886G>C (p.Glu296Gln)
n.1124G>C
Xg.154564456G>TCA415220509IKBKGc.1219G>T (p.Glu407Ter)
c.1255G>T (p.Glu419Ter)
c.853G>T (p.Glu285Ter)
c.1102G>T (p.Glu368Ter)
c.1312G>T (p.Glu438Ter)
c.958G>T (p.Glu320Ter)
c.*1247G>T (n.*1247G>T)
c.1231G>T (p.Glu411Ter)
c.1252G>T (p.Glu418Ter)
c.1459G>T (p.Glu487Ter)
c.1234G>T (p.Glu412Ter)
c.1456G>T (p.Glu486Ter)
c.1321+436G>T (n.1321+436G>T)
c.1306G>T (p.Glu436Ter)
c.1099G>T (p.Glu367Ter)
c.886G>T (p.Glu296Ter)
n.1124G>T
Xg.154564457A>CCA415220524IKBKGc.1220A>C (p.Glu407Ala)
c.1256A>C (p.Glu419Ala)
c.854A>C (p.Glu285Ala)
c.1103A>C (p.Glu368Ala)
c.1313A>C (p.Glu438Ala)
c.959A>C (p.Glu320Ala)
c.*1248A>C (n.*1248A>C)
c.1232A>C (p.Glu411Ala)
c.1253A>C (p.Glu418Ala)
c.1460A>C (p.Glu487Ala)
c.1235A>C (p.Glu412Ala)
c.1457A>C (p.Glu486Ala)
c.1321+437A>C (n.1321+437A>C)
c.1307A>C (p.Glu436Ala)
c.1100A>C (p.Glu367Ala)
c.887A>C (p.Glu296Ala)
n.1125A>C
Xg.154564457A>GCA415220529IKBKGc.1220A>G (p.Glu407Gly)
c.1256A>G (p.Glu419Gly)
c.854A>G (p.Glu285Gly)
c.1103A>G (p.Glu368Gly)
c.1313A>G (p.Glu438Gly)
c.959A>G (p.Glu320Gly)
c.*1248A>G (n.*1248A>G)
c.1232A>G (p.Glu411Gly)
c.1253A>G (p.Glu418Gly)
c.1460A>G (p.Glu487Gly)
c.1235A>G (p.Glu412Gly)
c.1457A>G (p.Glu486Gly)
c.1321+437A>G (n.1321+437A>G)
c.1307A>G (p.Glu436Gly)
c.1100A>G (p.Glu367Gly)
c.887A>G (p.Glu296Gly)
n.1125A>G
Xg.154564457A>TCA415220535IKBKGc.1220A>T (p.Glu407Val)
c.1256A>T (p.Glu419Val)
c.854A>T (p.Glu285Val)
c.1103A>T (p.Glu368Val)
c.1313A>T (p.Glu438Val)
c.959A>T (p.Glu320Val)
c.*1248A>T (n.*1248A>T)
c.1232A>T (p.Glu411Val)
c.1253A>T (p.Glu418Val)
c.1460A>T (p.Glu487Val)
c.1235A>T (p.Glu412Val)
c.1457A>T (p.Glu486Val)
c.1321+437A>T (n.1321+437A>T)
c.1307A>T (p.Glu436Val)
c.1100A>T (p.Glu367Val)
c.887A>T (p.Glu296Val)
n.1125A>T
Xg.154564458G>ACA519287257IKBKGc.1221G>A (p.Glu407=)
c.1257G>A (p.Glu419=)
c.855G>A (p.Glu285=)
c.1104G>A (p.Glu368=)
c.1314G>A (p.Glu438=)
c.960G>A (p.Glu320=)
c.*1249G>A (n.*1249G>A)
c.1233G>A (p.Glu411=)
c.1254G>A (p.Glu418=)
c.1461G>A (p.Glu487=)
c.1236G>A (p.Glu412=)
c.1458G>A (p.Glu486=)
c.1321+438G>A (n.1321+438G>A)
c.1308G>A (p.Glu436=)
c.1101G>A (p.Glu367=)
c.888G>A (p.Glu296=)
n.1126G>A
Xg.154564458G>CCA415220543IKBKGc.1221G>C (p.Glu407Asp)
c.1257G>C (p.Glu419Asp)
c.855G>C (p.Glu285Asp)
c.1104G>C (p.Glu368Asp)
c.1314G>C (p.Glu438Asp)
c.960G>C (p.Glu320Asp)
c.*1249G>C (n.*1249G>C)
c.1233G>C (p.Glu411Asp)
c.1254G>C (p.Glu418Asp)
c.1461G>C (p.Glu487Asp)
c.1236G>C (p.Glu412Asp)
c.1458G>C (p.Glu486Asp)
c.1321+438G>C (n.1321+438G>C)
c.1308G>C (p.Glu436Asp)
c.1101G>C (p.Glu367Asp)
c.888G>C (p.Glu296Asp)
n.1126G>C
Xg.154564458G>TCA415220544IKBKGc.1221G>T (p.Glu407Asp)
c.1257G>T (p.Glu419Asp)
c.855G>T (p.Glu285Asp)
c.1104G>T (p.Glu368Asp)
c.1314G>T (p.Glu438Asp)
c.960G>T (p.Glu320Asp)
c.*1249G>T (n.*1249G>T)
c.1233G>T (p.Glu411Asp)
c.1254G>T (p.Glu418Asp)
c.1461G>T (p.Glu487Asp)
c.1236G>T (p.Glu412Asp)
c.1458G>T (p.Glu486Asp)
c.1321+438G>T (n.1321+438G>T)
c.1308G>T (p.Glu436Asp)
c.1101G>T (p.Glu367Asp)
c.888G>T (p.Glu296Asp)
n.1126G>T
Xg.154564459T>ACA415220546IKBKGc.1222T>A (p.Ter408Lys)
c.1258T>A (p.Ter420Lys)
c.856T>A (p.Ter286Lys)
c.1105T>A (p.Ter369Lys)
c.1315T>A (p.Ter439Lys)
c.961T>A (p.Ter321Lys)
c.*1250T>A (n.*1250T>A)
c.1234T>A (p.Ter412Lys)
c.1255T>A (p.Ter419Lys)
c.1462T>A (p.Ter488Lys)
c.1237T>A (p.Ter413Lys)
c.1459T>A (p.Ter487Lys)
c.1321+439T>A (n.1321+439T>A)
c.1309T>A (p.Ter437Lys)
c.1102T>A (p.Ter368Lys)
c.889T>A (p.Ter297Lys)
n.1127T>A
Xg.154564459T>CCA16621264IKBKGc.1222T>C (p.Ter408Gln)
c.1258T>C (p.Ter420Gln)
c.856T>C (p.Ter286Gln)
c.1105T>C (p.Ter369Gln)
c.1315T>C (p.Ter439Gln)
c.961T>C (p.Ter321Gln)
c.*1250T>C (n.*1250T>C)
c.1234T>C (p.Ter412Gln)
c.1255T>C (p.Ter419Gln)
c.1462T>C (p.Ter488Gln)
c.1237T>C (p.Ter413Gln)
c.1459T>C (p.Ter487Gln)
c.1321+439T>C (n.1321+439T>C)
c.1309T>C (p.Ter437Gln)
c.1102T>C (p.Ter368Gln)
c.889T>C (p.Ter297Gln)
n.1127T>C
 ClinVar dbSNP
Xg.154564459T>GCA415220564IKBKGc.1222T>G (p.Ter408Glu)
c.1258T>G (p.Ter420Glu)
c.856T>G (p.Ter286Glu)
c.1105T>G (p.Ter369Glu)
c.1315T>G (p.Ter439Glu)
c.961T>G (p.Ter321Glu)
c.*1250T>G (n.*1250T>G)
c.1234T>G (p.Ter412Glu)
c.1255T>G (p.Ter419Glu)
c.1462T>G (p.Ter488Glu)
c.1237T>G (p.Ter413Glu)
c.1459T>G (p.Ter487Glu)
c.1321+439T>G (n.1321+439T>G)
c.1309T>G (p.Ter437Glu)
c.1102T>G (p.Ter368Glu)
c.889T>G (p.Ter297Glu)
n.1127T>G
Xg.154564459T=CA2466734069IKBKGc.1222T= (p.Ter408=)
c.1258T= (p.Ter420=)
c.856T= (p.Ter286=)
c.1105T= (p.Ter369=)
c.1315T= (p.Ter439=)
c.961T= (p.Ter321=)
c.*1250T= (n.*1250T=)
c.1234T= (p.Ter412=)
c.1255T= (p.Ter419=)
c.1462T= (p.Ter488=)
c.1237T= (p.Ter413=)
c.1459T= (p.Ter487=)
c.1321+439T= (n.1321+439T=)
c.1309T= (p.Ter437=)
c.1102T= (p.Ter368=)
c.889T= (p.Ter297=)
n.1127T=
Xg.154564460A=CA2466734070IKBKGc.1223A= (p.Ter408=)
c.1259A= (p.Ter420=)
c.857A= (p.Ter286=)
c.1106A= (p.Ter369=)
c.1316A= (p.Ter439=)
c.962A= (p.Ter321=)
c.*1251A= (n.*1251A=)
c.1235A= (p.Ter412=)
c.1256A= (p.Ter419=)
c.1463A= (p.Ter488=)
c.1238A= (p.Ter413=)
c.1460A= (p.Ter487=)
c.1321+440A= (n.1321+440A=)
c.1310A= (p.Ter437=)
c.1103A= (p.Ter368=)
c.890A= (p.Ter297=)
n.1128A=
Xg.154564460A>CCA415220595IKBKGc.1223A>C (p.Ter408Ser)
c.1259A>C (p.Ter420Ser)
c.857A>C (p.Ter286Ser)
c.1106A>C (p.Ter369Ser)
c.1316A>C (p.Ter439Ser)
c.962A>C (p.Ter321Ser)
c.*1251A>C (n.*1251A>C)
c.1235A>C (p.Ter412Ser)
c.1256A>C (p.Ter419Ser)
c.1463A>C (p.Ter488Ser)
c.1238A>C (p.Ter413Ser)
c.1460A>C (p.Ter487Ser)
c.1321+440A>C (n.1321+440A>C)
c.1310A>C (p.Ter437Ser)
c.1103A>C (p.Ter368Ser)
c.890A>C (p.Ter297Ser)
n.1128A>C
Xg.154564460A>GCA121467IKBKGc.1223A>G (p.Ter408Trp)
c.1259A>G (p.Ter420Trp)
c.857A>G (p.Ter286Trp)
c.1106A>G (p.Ter369Trp)
c.1316A>G (p.Ter439Trp)
c.962A>G (p.Ter321Trp)
c.*1251A>G (n.*1251A>G)
c.1235A>G (p.Ter412Trp)
c.1256A>G (p.Ter419Trp)
c.1463A>G (p.Ter488Trp)
c.1238A>G (p.Ter413Trp)
c.1460A>G (p.Ter487Trp)
c.1321+440A>G (n.1321+440A>G)
c.1310A>G (p.Ter437Trp)
c.1103A>G (p.Ter368Trp)
c.890A>G (p.Ter297Trp)
n.1128A>G
 ClinVar dbSNP
Xg.154564460A>TCA415220598IKBKGc.1223A>T (p.Ter408Leu)
c.1259A>T (p.Ter420Leu)
c.857A>T (p.Ter286Leu)
c.1106A>T (p.Ter369Leu)
c.1316A>T (p.Ter439Leu)
c.962A>T (p.Ter321Leu)
c.*1251A>T (n.*1251A>T)
c.1235A>T (p.Ter412Leu)
c.1256A>T (p.Ter419Leu)
c.1463A>T (p.Ter488Leu)
c.1238A>T (p.Ter413Leu)
c.1460A>T (p.Ter487Leu)
c.1321+440A>T (n.1321+440A>T)
c.1310A>T (p.Ter437Leu)
c.1103A>T (p.Ter368Leu)
c.890A>T (p.Ter297Leu)
n.1128A>T

Number of alleles fetched