Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154556172_154563959delCA1139532681IKBKGc.159_1020del
c.195_1056del
c.-87-121_654del
n.570_2453del
c.195_903del
c.195_1113del
n.570_2713del
c.195_759del
c.*187_*1048del
c.195_1032del
c.195_1053del
c.399_1260del
c.195_1035del
c.399_1257del
c.399_1107del
c.195_900del
c.195_687del
n.336_925del
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.154562791_154562804delCA1138590682IKBKGc.733-19_733-6del (n.733-19_733-6del)
c.769-19_769-6del (n.769-19_769-6del)
c.367-19_367-6del (n.367-19_367-6del)
c.*150-19_*150-6del (n.*150-19_*150-6del)
n.2147_2160del
c.616-19_616-6del (n.616-19_616-6del)
c.826-19_826-6del (n.826-19_826-6del)
n.2150_2163del
c.616-768_616-755del (n.616-768_616-755del)
c.*761-19_*761-6del (n.*761-19_*761-6del)
c.745-19_745-6del (n.745-19_745-6del)
c.766-19_766-6del (n.766-19_766-6del)
n.200-19_200-6del
c.973-19_973-6del (n.973-19_973-6del)
c.748-19_748-6del (n.748-19_748-6del)
c.970-19_970-6del (n.970-19_970-6del)
c.820-19_820-6del (n.820-19_820-6del)
c.613-19_613-6del (n.613-19_613-6del)
c.400-19_400-6del (n.400-19_400-6del)
n.638-19_638-6del
gnomAD v3 gnomAD v4
Xg.154562807T>GCA2526777943IKBKGc.733-3T>G (n.733-3T>G)
c.769-3T>G (n.769-3T>G)
c.367-3T>G (n.367-3T>G)
c.*150-3T>G (n.*150-3T>G)
n.2163T>G
c.616-3T>G (n.616-3T>G)
c.826-3T>G (n.826-3T>G)
n.2166T>G
c.616-752T>G (n.616-752T>G)
c.*761-3T>G (n.*761-3T>G)
c.745-3T>G (n.745-3T>G)
c.766-3T>G (n.766-3T>G)
n.200-3T>G
c.973-3T>G (n.973-3T>G)
c.748-3T>G (n.748-3T>G)
c.970-3T>G (n.970-3T>G)
c.820-3T>G (n.820-3T>G)
c.613-3T>G (n.613-3T>G)
c.400-3T>G (n.400-3T>G)
n.638-3T>G
gnomAD v4
Xg.154562808A>CCA415215858IKBKGc.733-2A>C (n.733-2A>C)
c.769-2A>C (n.769-2A>C)
c.367-2A>C (n.367-2A>C)
c.*150-2A>C (n.*150-2A>C)
n.2164A>C
c.616-2A>C (n.616-2A>C)
c.826-2A>C (n.826-2A>C)
n.2167A>C
c.616-751A>C (n.616-751A>C)
c.*761-2A>C (n.*761-2A>C)
c.745-2A>C (n.745-2A>C)
c.766-2A>C (n.766-2A>C)
n.200-2A>C
c.973-2A>C (n.973-2A>C)
c.748-2A>C (n.748-2A>C)
c.970-2A>C (n.970-2A>C)
c.820-2A>C (n.820-2A>C)
c.613-2A>C (n.613-2A>C)
c.400-2A>C (n.400-2A>C)
n.638-2A>C
gnomAD v4
Xg.154562808A>GCA415215860IKBKGc.733-2A>G (n.733-2A>G)
c.769-2A>G (n.769-2A>G)
c.367-2A>G (n.367-2A>G)
c.*150-2A>G (n.*150-2A>G)
n.2164A>G
c.616-2A>G (n.616-2A>G)
c.826-2A>G (n.826-2A>G)
n.2167A>G
c.616-751A>G (n.616-751A>G)
c.*761-2A>G (n.*761-2A>G)
c.745-2A>G (n.745-2A>G)
c.766-2A>G (n.766-2A>G)
n.200-2A>G
c.973-2A>G (n.973-2A>G)
c.748-2A>G (n.748-2A>G)
c.970-2A>G (n.970-2A>G)
c.820-2A>G (n.820-2A>G)
c.613-2A>G (n.613-2A>G)
c.400-2A>G (n.400-2A>G)
n.638-2A>G
gnomAD v4
Xg.154562808A>TCA415215867IKBKGc.733-2A>T (n.733-2A>T)
c.769-2A>T (n.769-2A>T)
c.367-2A>T (n.367-2A>T)
c.*150-2A>T (n.*150-2A>T)
n.2164A>T
c.616-2A>T (n.616-2A>T)
c.826-2A>T (n.826-2A>T)
n.2167A>T
c.616-751A>T (n.616-751A>T)
c.*761-2A>T (n.*761-2A>T)
c.745-2A>T (n.745-2A>T)
c.766-2A>T (n.766-2A>T)
n.200-2A>T
c.973-2A>T (n.973-2A>T)
c.748-2A>T (n.748-2A>T)
c.970-2A>T (n.970-2A>T)
c.820-2A>T (n.820-2A>T)
c.613-2A>T (n.613-2A>T)
c.400-2A>T (n.400-2A>T)
n.638-2A>T
Xg.154562809G>ACA415215871IKBKGc.733-1G>A (n.733-1G>A)
c.769-1G>A (n.769-1G>A)
c.367-1G>A (n.367-1G>A)
c.*150-1G>A (n.*150-1G>A)
n.2165G>A
c.616-1G>A (n.616-1G>A)
c.826-1G>A (n.826-1G>A)
n.2168G>A
c.616-750G>A (n.616-750G>A)
c.*761-1G>A (n.*761-1G>A)
c.745-1G>A (n.745-1G>A)
c.766-1G>A (n.766-1G>A)
n.200-1G>A
c.973-1G>A (n.973-1G>A)
c.748-1G>A (n.748-1G>A)
c.970-1G>A (n.970-1G>A)
c.820-1G>A (n.820-1G>A)
c.613-1G>A (n.613-1G>A)
c.400-1G>A (n.400-1G>A)
n.638-1G>A
Xg.154562809G>CCA415215877IKBKGc.733-1G>C (n.733-1G>C)
c.769-1G>C (n.769-1G>C)
c.367-1G>C (n.367-1G>C)
c.*150-1G>C (n.*150-1G>C)
n.2165G>C
c.616-1G>C (n.616-1G>C)
c.826-1G>C (n.826-1G>C)
n.2168G>C
c.616-750G>C (n.616-750G>C)
c.*761-1G>C (n.*761-1G>C)
c.745-1G>C (n.745-1G>C)
c.766-1G>C (n.766-1G>C)
n.200-1G>C
c.973-1G>C (n.973-1G>C)
c.748-1G>C (n.748-1G>C)
c.970-1G>C (n.970-1G>C)
c.820-1G>C (n.820-1G>C)
c.613-1G>C (n.613-1G>C)
c.400-1G>C (n.400-1G>C)
n.638-1G>C
Xg.154562809G>TCA415215873IKBKGc.733-1G>T (n.733-1G>T)
c.769-1G>T (n.769-1G>T)
c.367-1G>T (n.367-1G>T)
c.*150-1G>T (n.*150-1G>T)
n.2165G>T
c.616-1G>T (n.616-1G>T)
c.826-1G>T (n.826-1G>T)
n.2168G>T
c.616-750G>T (n.616-750G>T)
c.*761-1G>T (n.*761-1G>T)
c.745-1G>T (n.745-1G>T)
c.766-1G>T (n.766-1G>T)
n.200-1G>T
c.973-1G>T (n.973-1G>T)
c.748-1G>T (n.748-1G>T)
c.970-1G>T (n.970-1G>T)
c.820-1G>T (n.820-1G>T)
c.613-1G>T (n.613-1G>T)
c.400-1G>T (n.400-1G>T)
n.638-1G>T
Xg.154562810G>ACA415215883IKBKGc.733G>A (p.Gly245Arg)
c.769G>A (p.Gly257Arg)
c.367G>A (p.Gly123Arg)
c.*150G>A (n.*150G>A)
n.2166G>A
c.616G>A (p.Gly206Arg)
c.826G>A (p.Gly276Arg)
n.2169G>A
c.616-749G>A (n.616-749G>A)
c.*761G>A (n.*761G>A)
c.745G>A (p.Gly249Arg)
c.766G>A (p.Gly256Arg)
n.200G>A
c.973G>A (p.Gly325Arg)
c.748G>A (p.Gly250Arg)
c.970G>A (p.Gly324Arg)
c.820G>A (p.Gly274Arg)
c.613G>A (p.Gly205Arg)
c.400G>A (p.Gly134Arg)
n.638G>A
Xg.154562810G>CCA415215887IKBKGc.733G>C (p.Gly245Arg)
c.769G>C (p.Gly257Arg)
c.367G>C (p.Gly123Arg)
c.*150G>C (n.*150G>C)
n.2166G>C
c.616G>C (p.Gly206Arg)
c.826G>C (p.Gly276Arg)
n.2169G>C
c.616-749G>C (n.616-749G>C)
c.*761G>C (n.*761G>C)
c.745G>C (p.Gly249Arg)
c.766G>C (p.Gly256Arg)
n.200G>C
c.973G>C (p.Gly325Arg)
c.748G>C (p.Gly250Arg)
c.970G>C (p.Gly324Arg)
c.820G>C (p.Gly274Arg)
c.613G>C (p.Gly205Arg)
c.400G>C (p.Gly134Arg)
n.638G>C
Xg.154562810G>TCA415215885IKBKGc.733G>T (p.Gly245Ter)
c.769G>T (p.Gly257Ter)
c.367G>T (p.Gly123Ter)
c.*150G>T (n.*150G>T)
n.2166G>T
c.616G>T (p.Gly206Ter)
c.826G>T (p.Gly276Ter)
n.2169G>T
c.616-749G>T (n.616-749G>T)
c.*761G>T (n.*761G>T)
c.745G>T (p.Gly249Ter)
c.766G>T (p.Gly256Ter)
n.200G>T
c.973G>T (p.Gly325Ter)
c.748G>T (p.Gly250Ter)
c.970G>T (p.Gly324Ter)
c.820G>T (p.Gly274Ter)
c.613G>T (p.Gly205Ter)
c.400G>T (p.Gly134Ter)
n.638G>T
Xg.154562811G>ACA415215894IKBKGc.734G>A (p.Gly245Glu)
c.770G>A (p.Gly257Glu)
c.368G>A (p.Gly123Glu)
c.*151G>A (n.*151G>A)
n.2167G>A
c.617G>A (p.Gly206Glu)
c.827G>A (p.Gly276Glu)
n.2170G>A
c.616-748G>A (n.616-748G>A)
c.*762G>A (n.*762G>A)
c.746G>A (p.Gly249Glu)
c.767G>A (p.Gly256Glu)
n.201G>A
c.974G>A (p.Gly325Glu)
c.749G>A (p.Gly250Glu)
c.971G>A (p.Gly324Glu)
c.821G>A (p.Gly274Glu)
c.614G>A (p.Gly205Glu)
c.401G>A (p.Gly134Glu)
n.639G>A
Xg.154562811G>CCA415215898IKBKGc.734G>C (p.Gly245Ala)
c.770G>C (p.Gly257Ala)
c.368G>C (p.Gly123Ala)
c.*151G>C (n.*151G>C)
n.2167G>C
c.617G>C (p.Gly206Ala)
c.827G>C (p.Gly276Ala)
n.2170G>C
c.616-748G>C (n.616-748G>C)
c.*762G>C (n.*762G>C)
c.746G>C (p.Gly249Ala)
c.767G>C (p.Gly256Ala)
n.201G>C
c.974G>C (p.Gly325Ala)
c.749G>C (p.Gly250Ala)
c.971G>C (p.Gly324Ala)
c.821G>C (p.Gly274Ala)
c.614G>C (p.Gly205Ala)
c.401G>C (p.Gly134Ala)
n.639G>C
Xg.154562811G>TCA415215900IKBKGc.734G>T (p.Gly245Val)
c.770G>T (p.Gly257Val)
c.368G>T (p.Gly123Val)
c.*151G>T (n.*151G>T)
n.2167G>T
c.617G>T (p.Gly206Val)
c.827G>T (p.Gly276Val)
n.2170G>T
c.616-748G>T (n.616-748G>T)
c.*762G>T (n.*762G>T)
c.746G>T (p.Gly249Val)
c.767G>T (p.Gly256Val)
n.201G>T
c.974G>T (p.Gly325Val)
c.749G>T (p.Gly250Val)
c.971G>T (p.Gly324Val)
c.821G>T (p.Gly274Val)
c.614G>T (p.Gly205Val)
c.401G>T (p.Gly134Val)
n.639G>T
Xg.154562812A>CCA519286338IKBKGc.735A>C (p.Gly245=)
c.771A>C (p.Gly257=)
c.369A>C (p.Gly123=)
c.*152A>C (n.*152A>C)
n.2168A>C
c.618A>C (p.Gly206=)
c.828A>C (p.Gly276=)
n.2171A>C
c.616-747A>C (n.616-747A>C)
c.*763A>C (n.*763A>C)
c.747A>C (p.Gly249=)
c.768A>C (p.Gly256=)
n.202A>C
c.975A>C (p.Gly325=)
c.750A>C (p.Gly250=)
c.972A>C (p.Gly324=)
c.822A>C (p.Gly274=)
c.615A>C (p.Gly205=)
c.402A>C (p.Gly134=)
n.640A>C
gnomAD v4
Xg.154562812A>GCA519286340IKBKGc.735A>G (p.Gly245=)
c.771A>G (p.Gly257=)
c.369A>G (p.Gly123=)
c.*152A>G (n.*152A>G)
n.2168A>G
c.618A>G (p.Gly206=)
c.828A>G (p.Gly276=)
n.2171A>G
c.616-747A>G (n.616-747A>G)
c.*763A>G (n.*763A>G)
c.747A>G (p.Gly249=)
c.768A>G (p.Gly256=)
n.202A>G
c.975A>G (p.Gly325=)
c.750A>G (p.Gly250=)
c.972A>G (p.Gly324=)
c.822A>G (p.Gly274=)
c.615A>G (p.Gly205=)
c.402A>G (p.Gly134=)
n.640A>G
Xg.154562812A>TCA519286341IKBKGc.735A>T (p.Gly245=)
c.771A>T (p.Gly257=)
c.369A>T (p.Gly123=)
c.*152A>T (n.*152A>T)
n.2168A>T
c.618A>T (p.Gly206=)
c.828A>T (p.Gly276=)
n.2171A>T
c.616-747A>T (n.616-747A>T)
c.*763A>T (n.*763A>T)
c.747A>T (p.Gly249=)
c.768A>T (p.Gly256=)
n.202A>T
c.975A>T (p.Gly325=)
c.750A>T (p.Gly250=)
c.972A>T (p.Gly324=)
c.822A>T (p.Gly274=)
c.615A>T (p.Gly205=)
c.402A>T (p.Gly134=)
n.640A>T
gnomAD v4
Xg.154562813A=CA2466733992IKBKGc.736A= (p.Met246=)
c.772A= (p.Met258=)
c.370A= (p.Met124=)
c.*153A= (n.*153A=)
n.2169A=
c.619A= (p.Met207=)
c.829A= (p.Met277=)
n.2172A=
c.616-746A= (n.616-746A=)
c.*764A= (n.*764A=)
c.748A= (p.Met250=)
c.769A= (p.Met257=)
n.203A=
c.976A= (p.Met326=)
c.751A= (p.Met251=)
c.973A= (p.Met325=)
c.823A= (p.Met275=)
c.616A= (p.Met206=)
c.403A= (p.Met135=)
n.641A=
Xg.154562813A>CCA415215903IKBKGc.736A>C (p.Met246Leu)
c.772A>C (p.Met258Leu)
c.370A>C (p.Met124Leu)
c.*153A>C (n.*153A>C)
n.2169A>C
c.619A>C (p.Met207Leu)
c.829A>C (p.Met277Leu)
n.2172A>C
c.616-746A>C (n.616-746A>C)
c.*764A>C (n.*764A>C)
c.748A>C (p.Met250Leu)
c.769A>C (p.Met257Leu)
n.203A>C
c.976A>C (p.Met326Leu)
c.751A>C (p.Met251Leu)
c.973A>C (p.Met325Leu)
c.823A>C (p.Met275Leu)
c.616A>C (p.Met206Leu)
c.403A>C (p.Met135Leu)
n.641A>C
dbSNP gnomAD v3 gnomAD v4
Xg.154562813A>GCA415215904IKBKGc.736A>G (p.Met246Val)
c.772A>G (p.Met258Val)
c.370A>G (p.Met124Val)
c.*153A>G (n.*153A>G)
n.2169A>G
c.619A>G (p.Met207Val)
c.829A>G (p.Met277Val)
n.2172A>G
c.616-746A>G (n.616-746A>G)
c.*764A>G (n.*764A>G)
c.748A>G (p.Met250Val)
c.769A>G (p.Met257Val)
n.203A>G
c.976A>G (p.Met326Val)
c.751A>G (p.Met251Val)
c.973A>G (p.Met325Val)
c.823A>G (p.Met275Val)
c.616A>G (p.Met206Val)
c.403A>G (p.Met135Val)
n.641A>G
dbSNP gnomAD v3 gnomAD v4
Xg.154562813A>TCA415215907IKBKGc.736A>T (p.Met246Leu)
c.772A>T (p.Met258Leu)
c.370A>T (p.Met124Leu)
c.*153A>T (n.*153A>T)
n.2169A>T
c.619A>T (p.Met207Leu)
c.829A>T (p.Met277Leu)
n.2172A>T
c.616-746A>T (n.616-746A>T)
c.*764A>T (n.*764A>T)
c.748A>T (p.Met250Leu)
c.769A>T (p.Met257Leu)
n.203A>T
c.976A>T (p.Met326Leu)
c.751A>T (p.Met251Leu)
c.973A>T (p.Met325Leu)
c.823A>T (p.Met275Leu)
c.616A>T (p.Met206Leu)
c.403A>T (p.Met135Leu)
n.641A>T
Xg.154562814T>ACA415215911IKBKGc.737T>A (p.Met246Lys)
c.773T>A (p.Met258Lys)
c.371T>A (p.Met124Lys)
c.*154T>A (n.*154T>A)
n.2170T>A
c.620T>A (p.Met207Lys)
c.830T>A (p.Met277Lys)
n.2173T>A
c.616-745T>A (n.616-745T>A)
c.*765T>A (n.*765T>A)
c.749T>A (p.Met250Lys)
c.770T>A (p.Met257Lys)
n.204T>A
c.977T>A (p.Met326Lys)
c.752T>A (p.Met251Lys)
c.974T>A (p.Met325Lys)
c.824T>A (p.Met275Lys)
c.617T>A (p.Met206Lys)
c.404T>A (p.Met135Lys)
n.642T>A
Xg.154562814T>CCA415215913IKBKGc.737T>C (p.Met246Thr)
c.773T>C (p.Met258Thr)
c.371T>C (p.Met124Thr)
c.*154T>C (n.*154T>C)
n.2170T>C
c.620T>C (p.Met207Thr)
c.830T>C (p.Met277Thr)
n.2173T>C
c.616-745T>C (n.616-745T>C)
c.*765T>C (n.*765T>C)
c.749T>C (p.Met250Thr)
c.770T>C (p.Met257Thr)
n.204T>C
c.977T>C (p.Met326Thr)
c.752T>C (p.Met251Thr)
c.974T>C (p.Met325Thr)
c.824T>C (p.Met275Thr)
c.617T>C (p.Met206Thr)
c.404T>C (p.Met135Thr)
n.642T>C
gnomAD v4
Xg.154562814T>GCA415215917IKBKGc.737T>G (p.Met246Arg)
c.773T>G (p.Met258Arg)
c.371T>G (p.Met124Arg)
c.*154T>G (n.*154T>G)
n.2170T>G
c.620T>G (p.Met207Arg)
c.830T>G (p.Met277Arg)
n.2173T>G
c.616-745T>G (n.616-745T>G)
c.*765T>G (n.*765T>G)
c.749T>G (p.Met250Arg)
c.770T>G (p.Met257Arg)
n.204T>G
c.977T>G (p.Met326Arg)
c.752T>G (p.Met251Arg)
c.974T>G (p.Met325Arg)
c.824T>G (p.Met275Arg)
c.617T>G (p.Met206Arg)
c.404T>G (p.Met135Arg)
n.642T>G
Xg.154562815G>ACA415215926IKBKGc.738G>A (p.Met246Ile)
c.774G>A (p.Met258Ile)
c.372G>A (p.Met124Ile)
c.*155G>A (n.*155G>A)
n.2171G>A
c.621G>A (p.Met207Ile)
c.831G>A (p.Met277Ile)
n.2174G>A
c.616-744G>A (n.616-744G>A)
c.*766G>A (n.*766G>A)
c.750G>A (p.Met250Ile)
c.771G>A (p.Met257Ile)
n.205G>A
c.978G>A (p.Met326Ile)
c.753G>A (p.Met251Ile)
c.975G>A (p.Met325Ile)
c.825G>A (p.Met275Ile)
c.618G>A (p.Met206Ile)
c.405G>A (p.Met135Ile)
n.643G>A
Xg.154562815G>CCA415215924IKBKGc.738G>C (p.Met246Ile)
c.774G>C (p.Met258Ile)
c.372G>C (p.Met124Ile)
c.*155G>C (n.*155G>C)
n.2171G>C
c.621G>C (p.Met207Ile)
c.831G>C (p.Met277Ile)
n.2174G>C
c.616-744G>C (n.616-744G>C)
c.*766G>C (n.*766G>C)
c.750G>C (p.Met250Ile)
c.771G>C (p.Met257Ile)
n.205G>C
c.978G>C (p.Met326Ile)
c.753G>C (p.Met251Ile)
c.975G>C (p.Met325Ile)
c.825G>C (p.Met275Ile)
c.618G>C (p.Met206Ile)
c.405G>C (p.Met135Ile)
n.643G>C
Xg.154562815G>TCA415215921IKBKGc.738G>T (p.Met246Ile)
c.774G>T (p.Met258Ile)
c.372G>T (p.Met124Ile)
c.*155G>T (n.*155G>T)
n.2171G>T
c.621G>T (p.Met207Ile)
c.831G>T (p.Met277Ile)
n.2174G>T
c.616-744G>T (n.616-744G>T)
c.*766G>T (n.*766G>T)
c.750G>T (p.Met250Ile)
c.771G>T (p.Met257Ile)
n.205G>T
c.978G>T (p.Met326Ile)
c.753G>T (p.Met251Ile)
c.975G>T (p.Met325Ile)
c.825G>T (p.Met275Ile)
c.618G>T (p.Met206Ile)
c.405G>T (p.Met135Ile)
n.643G>T
gnomAD v4
Xg.154562816C>ACA415215929IKBKGc.739C>A (p.Gln247Lys)
c.775C>A (p.Gln259Lys)
c.373C>A (p.Gln125Lys)
c.*156C>A (n.*156C>A)
n.2172C>A
c.622C>A (p.Gln208Lys)
c.832C>A (p.Gln278Lys)
n.2175C>A
c.616-743C>A (n.616-743C>A)
c.*767C>A (n.*767C>A)
c.751C>A (p.Gln251Lys)
c.772C>A (p.Gln258Lys)
n.206C>A
c.979C>A (p.Gln327Lys)
c.754C>A (p.Gln252Lys)
c.976C>A (p.Gln326Lys)
c.826C>A (p.Gln276Lys)
c.619C>A (p.Gln207Lys)
c.406C>A (p.Gln136Lys)
n.644C>A
Xg.154562816C>GCA415215930IKBKGc.739C>G (p.Gln247Glu)
c.775C>G (p.Gln259Glu)
c.373C>G (p.Gln125Glu)
c.*156C>G (n.*156C>G)
n.2172C>G
c.622C>G (p.Gln208Glu)
c.832C>G (p.Gln278Glu)
n.2175C>G
c.616-743C>G (n.616-743C>G)
c.*767C>G (n.*767C>G)
c.751C>G (p.Gln251Glu)
c.772C>G (p.Gln258Glu)
n.206C>G
c.979C>G (p.Gln327Glu)
c.754C>G (p.Gln252Glu)
c.976C>G (p.Gln326Glu)
c.826C>G (p.Gln276Glu)
c.619C>G (p.Gln207Glu)
c.406C>G (p.Gln136Glu)
n.644C>G
Xg.154562816C>TCA415215932IKBKGc.739C>T (p.Gln247Ter)
c.775C>T (p.Gln259Ter)
c.373C>T (p.Gln125Ter)
c.*156C>T (n.*156C>T)
n.2172C>T
c.622C>T (p.Gln208Ter)
c.832C>T (p.Gln278Ter)
n.2175C>T
c.616-743C>T (n.616-743C>T)
c.*767C>T (n.*767C>T)
c.751C>T (p.Gln251Ter)
c.772C>T (p.Gln258Ter)
n.206C>T
c.979C>T (p.Gln327Ter)
c.754C>T (p.Gln252Ter)
c.976C>T (p.Gln326Ter)
c.826C>T (p.Gln276Ter)
c.619C>T (p.Gln207Ter)
c.406C>T (p.Gln136Ter)
n.644C>T
gnomAD v4
Xg.154562817A>CCA415215934IKBKGc.740A>C (p.Gln247Pro)
c.776A>C (p.Gln259Pro)
c.374A>C (p.Gln125Pro)
c.*157A>C (n.*157A>C)
n.2173A>C
c.623A>C (p.Gln208Pro)
c.833A>C (p.Gln278Pro)
n.2176A>C
c.616-742A>C (n.616-742A>C)
c.*768A>C (n.*768A>C)
c.752A>C (p.Gln251Pro)
c.773A>C (p.Gln258Pro)
n.207A>C
c.980A>C (p.Gln327Pro)
c.755A>C (p.Gln252Pro)
c.977A>C (p.Gln326Pro)
c.827A>C (p.Gln276Pro)
c.620A>C (p.Gln207Pro)
c.407A>C (p.Gln136Pro)
n.645A>C
Xg.154562817A>GCA415215935IKBKGc.740A>G (p.Gln247Arg)
c.776A>G (p.Gln259Arg)
c.374A>G (p.Gln125Arg)
c.*157A>G (n.*157A>G)
n.2173A>G
c.623A>G (p.Gln208Arg)
c.833A>G (p.Gln278Arg)
n.2176A>G
c.616-742A>G (n.616-742A>G)
c.*768A>G (n.*768A>G)
c.752A>G (p.Gln251Arg)
c.773A>G (p.Gln258Arg)
n.207A>G
c.980A>G (p.Gln327Arg)
c.755A>G (p.Gln252Arg)
c.977A>G (p.Gln326Arg)
c.827A>G (p.Gln276Arg)
c.620A>G (p.Gln207Arg)
c.407A>G (p.Gln136Arg)
n.645A>G
Xg.154562817A>TCA415215937IKBKGc.740A>T (p.Gln247Leu)
c.776A>T (p.Gln259Leu)
c.374A>T (p.Gln125Leu)
c.*157A>T (n.*157A>T)
n.2173A>T
c.623A>T (p.Gln208Leu)
c.833A>T (p.Gln278Leu)
n.2176A>T
c.616-742A>T (n.616-742A>T)
c.*768A>T (n.*768A>T)
c.752A>T (p.Gln251Leu)
c.773A>T (p.Gln258Leu)
n.207A>T
c.980A>T (p.Gln327Leu)
c.755A>T (p.Gln252Leu)
c.977A>T (p.Gln326Leu)
c.827A>T (p.Gln276Leu)
c.620A>T (p.Gln207Leu)
c.407A>T (p.Gln136Leu)
n.645A>T
Xg.154562818G>ACA519286347IKBKGc.741G>A (p.Gln247=)
c.777G>A (p.Gln259=)
c.375G>A (p.Gln125=)
c.*158G>A (n.*158G>A)
n.2174G>A
c.624G>A (p.Gln208=)
c.834G>A (p.Gln278=)
n.2177G>A
c.616-741G>A (n.616-741G>A)
c.*769G>A (n.*769G>A)
c.753G>A (p.Gln251=)
c.774G>A (p.Gln258=)
n.208G>A
c.981G>A (p.Gln327=)
c.756G>A (p.Gln252=)
c.978G>A (p.Gln326=)
c.828G>A (p.Gln276=)
c.621G>A (p.Gln207=)
c.408G>A (p.Gln136=)
n.646G>A
Xg.154562818G>CCA415215943IKBKGc.741G>C (p.Gln247His)
c.777G>C (p.Gln259His)
c.375G>C (p.Gln125His)
c.*158G>C (n.*158G>C)
n.2174G>C
c.624G>C (p.Gln208His)
c.834G>C (p.Gln278His)
n.2177G>C
c.616-741G>C (n.616-741G>C)
c.*769G>C (n.*769G>C)
c.753G>C (p.Gln251His)
c.774G>C (p.Gln258His)
n.208G>C
c.981G>C (p.Gln327His)
c.756G>C (p.Gln252His)
c.978G>C (p.Gln326His)
c.828G>C (p.Gln276His)
c.621G>C (p.Gln207His)
c.408G>C (p.Gln136His)
n.646G>C
Xg.154562818G>TCA415215950IKBKGc.741G>T (p.Gln247His)
c.777G>T (p.Gln259His)
c.375G>T (p.Gln125His)
c.*158G>T (n.*158G>T)
n.2174G>T
c.624G>T (p.Gln208His)
c.834G>T (p.Gln278His)
n.2177G>T
c.616-741G>T (n.616-741G>T)
c.*769G>T (n.*769G>T)
c.753G>T (p.Gln251His)
c.774G>T (p.Gln258His)
n.208G>T
c.981G>T (p.Gln327His)
c.756G>T (p.Gln252His)
c.978G>T (p.Gln326His)
c.828G>T (p.Gln276His)
c.621G>T (p.Gln207His)
c.408G>T (p.Gln136His)
n.646G>T
Xg.154562819C>ACA415215954IKBKGc.742C>A (p.Leu248Met)
c.778C>A (p.Leu260Met)
c.376C>A (p.Leu126Met)
c.*159C>A (n.*159C>A)
n.2175C>A
c.625C>A (p.Leu209Met)
c.835C>A (p.Leu279Met)
n.2178C>A
c.616-740C>A (n.616-740C>A)
c.*770C>A (n.*770C>A)
c.754C>A (p.Leu252Met)
c.775C>A (p.Leu259Met)
n.209C>A
c.982C>A (p.Leu328Met)
c.757C>A (p.Leu253Met)
c.979C>A (p.Leu327Met)
c.829C>A (p.Leu277Met)
c.622C>A (p.Leu208Met)
c.409C>A (p.Leu137Met)
n.647C>A
Xg.154562819C>GCA415215957IKBKGc.742C>G (p.Leu248Val)
c.778C>G (p.Leu260Val)
c.376C>G (p.Leu126Val)
c.*159C>G (n.*159C>G)
n.2175C>G
c.625C>G (p.Leu209Val)
c.835C>G (p.Leu279Val)
n.2178C>G
c.616-740C>G (n.616-740C>G)
c.*770C>G (n.*770C>G)
c.754C>G (p.Leu252Val)
c.775C>G (p.Leu259Val)
n.209C>G
c.982C>G (p.Leu328Val)
c.757C>G (p.Leu253Val)
c.979C>G (p.Leu327Val)
c.829C>G (p.Leu277Val)
c.622C>G (p.Leu208Val)
c.409C>G (p.Leu137Val)
n.647C>G
Xg.154562819C>TCA519286349IKBKGc.742C>T (p.Leu248=)
c.778C>T (p.Leu260=)
c.376C>T (p.Leu126=)
c.*159C>T (n.*159C>T)
n.2175C>T
c.625C>T (p.Leu209=)
c.835C>T (p.Leu279=)
n.2178C>T
c.616-740C>T (n.616-740C>T)
c.*770C>T (n.*770C>T)
c.754C>T (p.Leu252=)
c.775C>T (p.Leu259=)
n.209C>T
c.982C>T (p.Leu328=)
c.757C>T (p.Leu253=)
c.979C>T (p.Leu327=)
c.829C>T (p.Leu277=)
c.622C>T (p.Leu208=)
c.409C>T (p.Leu137=)
n.647C>T
Xg.154562820T>ACA415215968IKBKGc.743T>A (p.Leu248Gln)
c.779T>A (p.Leu260Gln)
c.377T>A (p.Leu126Gln)
c.*160T>A (n.*160T>A)
n.2176T>A
c.626T>A (p.Leu209Gln)
c.836T>A (p.Leu279Gln)
n.2179T>A
c.616-739T>A (n.616-739T>A)
c.*771T>A (n.*771T>A)
c.755T>A (p.Leu252Gln)
c.776T>A (p.Leu259Gln)
n.210T>A
c.983T>A (p.Leu328Gln)
c.758T>A (p.Leu253Gln)
c.980T>A (p.Leu327Gln)
c.830T>A (p.Leu277Gln)
c.623T>A (p.Leu208Gln)
c.410T>A (p.Leu137Gln)
n.648T>A
Xg.154562820T>CCA415215967IKBKGc.743T>C (p.Leu248Pro)
c.779T>C (p.Leu260Pro)
c.377T>C (p.Leu126Pro)
c.*160T>C (n.*160T>C)
n.2176T>C
c.626T>C (p.Leu209Pro)
c.836T>C (p.Leu279Pro)
n.2179T>C
c.616-739T>C (n.616-739T>C)
c.*771T>C (n.*771T>C)
c.755T>C (p.Leu252Pro)
c.776T>C (p.Leu259Pro)
n.210T>C
c.983T>C (p.Leu328Pro)
c.758T>C (p.Leu253Pro)
c.980T>C (p.Leu327Pro)
c.830T>C (p.Leu277Pro)
c.623T>C (p.Leu208Pro)
c.410T>C (p.Leu137Pro)
n.648T>C
Xg.154562820T>GCA415215961IKBKGc.743T>G (p.Leu248Arg)
c.779T>G (p.Leu260Arg)
c.377T>G (p.Leu126Arg)
c.*160T>G (n.*160T>G)
n.2176T>G
c.626T>G (p.Leu209Arg)
c.836T>G (p.Leu279Arg)
n.2179T>G
c.616-739T>G (n.616-739T>G)
c.*771T>G (n.*771T>G)
c.755T>G (p.Leu252Arg)
c.776T>G (p.Leu259Arg)
n.210T>G
c.983T>G (p.Leu328Arg)
c.758T>G (p.Leu253Arg)
c.980T>G (p.Leu327Arg)
c.830T>G (p.Leu277Arg)
c.623T>G (p.Leu208Arg)
c.410T>G (p.Leu137Arg)
n.648T>G
Xg.154562821G>ACA519286354IKBKGc.744G>A (p.Leu248=)
c.780G>A (p.Leu260=)
c.378G>A (p.Leu126=)
c.*161G>A (n.*161G>A)
n.2177G>A
c.627G>A (p.Leu209=)
c.837G>A (p.Leu279=)
n.2180G>A
c.616-738G>A (n.616-738G>A)
c.*772G>A (n.*772G>A)
c.756G>A (p.Leu252=)
c.777G>A (p.Leu259=)
n.211G>A
c.984G>A (p.Leu328=)
c.759G>A (p.Leu253=)
c.981G>A (p.Leu327=)
c.831G>A (p.Leu277=)
c.624G>A (p.Leu208=)
c.411G>A (p.Leu137=)
n.649G>A
gnomAD v4
Xg.154562821G>CCA519286353IKBKGc.744G>C (p.Leu248=)
c.780G>C (p.Leu260=)
c.378G>C (p.Leu126=)
c.*161G>C (n.*161G>C)
n.2177G>C
c.627G>C (p.Leu209=)
c.837G>C (p.Leu279=)
n.2180G>C
c.616-738G>C (n.616-738G>C)
c.*772G>C (n.*772G>C)
c.756G>C (p.Leu252=)
c.777G>C (p.Leu259=)
n.211G>C
c.984G>C (p.Leu328=)
c.759G>C (p.Leu253=)
c.981G>C (p.Leu327=)
c.831G>C (p.Leu277=)
c.624G>C (p.Leu208=)
c.411G>C (p.Leu137=)
n.649G>C
Xg.154562821G>TCA519286352IKBKGc.744G>T (p.Leu248=)
c.780G>T (p.Leu260=)
c.378G>T (p.Leu126=)
c.*161G>T (n.*161G>T)
n.2177G>T
c.627G>T (p.Leu209=)
c.837G>T (p.Leu279=)
n.2180G>T
c.616-738G>T (n.616-738G>T)
c.*772G>T (n.*772G>T)
c.756G>T (p.Leu252=)
c.777G>T (p.Leu259=)
n.211G>T
c.984G>T (p.Leu328=)
c.759G>T (p.Leu253=)
c.981G>T (p.Leu327=)
c.831G>T (p.Leu277=)
c.624G>T (p.Leu208=)
c.411G>T (p.Leu137=)
n.649G>T
Xg.154562822G>ACA415215972IKBKGc.745G>A (p.Glu249Lys)
c.781G>A (p.Glu261Lys)
c.379G>A (p.Glu127Lys)
c.*162G>A (n.*162G>A)
n.2178G>A
c.628G>A (p.Glu210Lys)
c.838G>A (p.Glu280Lys)
n.2181G>A
c.616-737G>A (n.616-737G>A)
c.*773G>A (n.*773G>A)
c.757G>A (p.Glu253Lys)
c.778G>A (p.Glu260Lys)
n.212G>A
c.985G>A (p.Glu329Lys)
c.760G>A (p.Glu254Lys)
c.982G>A (p.Glu328Lys)
c.832G>A (p.Glu278Lys)
c.625G>A (p.Glu209Lys)
c.412G>A (p.Glu138Lys)
n.650G>A
Xg.154562822G>CCA415215975IKBKGc.745G>C (p.Glu249Gln)
c.781G>C (p.Glu261Gln)
c.379G>C (p.Glu127Gln)
c.*162G>C (n.*162G>C)
n.2178G>C
c.628G>C (p.Glu210Gln)
c.838G>C (p.Glu280Gln)
n.2181G>C
c.616-737G>C (n.616-737G>C)
c.*773G>C (n.*773G>C)
c.757G>C (p.Glu253Gln)
c.778G>C (p.Glu260Gln)
n.212G>C
c.985G>C (p.Glu329Gln)
c.760G>C (p.Glu254Gln)
c.982G>C (p.Glu328Gln)
c.832G>C (p.Glu278Gln)
c.625G>C (p.Glu209Gln)
c.412G>C (p.Glu138Gln)
n.650G>C
Xg.154562822G>TCA415215979IKBKGc.745G>T (p.Glu249Ter)
c.781G>T (p.Glu261Ter)
c.379G>T (p.Glu127Ter)
c.*162G>T (n.*162G>T)
n.2178G>T
c.628G>T (p.Glu210Ter)
c.838G>T (p.Glu280Ter)
n.2181G>T
c.616-737G>T (n.616-737G>T)
c.*773G>T (n.*773G>T)
c.757G>T (p.Glu253Ter)
c.778G>T (p.Glu260Ter)
n.212G>T
c.985G>T (p.Glu329Ter)
c.760G>T (p.Glu254Ter)
c.982G>T (p.Glu328Ter)
c.832G>T (p.Glu278Ter)
c.625G>T (p.Glu209Ter)
c.412G>T (p.Glu138Ter)
n.650G>T
Xg.154562823A>CCA415215983IKBKGc.746A>C (p.Glu249Ala)
c.782A>C (p.Glu261Ala)
c.380A>C (p.Glu127Ala)
c.*163A>C (n.*163A>C)
n.2179A>C
c.629A>C (p.Glu210Ala)
c.839A>C (p.Glu280Ala)
n.2182A>C
c.616-736A>C (n.616-736A>C)
c.*774A>C (n.*774A>C)
c.758A>C (p.Glu253Ala)
c.779A>C (p.Glu260Ala)
n.213A>C
c.986A>C (p.Glu329Ala)
c.761A>C (p.Glu254Ala)
c.983A>C (p.Glu328Ala)
c.833A>C (p.Glu278Ala)
c.626A>C (p.Glu209Ala)
c.413A>C (p.Glu138Ala)
n.651A>C
Xg.154562823A>GCA415215985IKBKGc.746A>G (p.Glu249Gly)
c.782A>G (p.Glu261Gly)
c.380A>G (p.Glu127Gly)
c.*163A>G (n.*163A>G)
n.2179A>G
c.629A>G (p.Glu210Gly)
c.839A>G (p.Glu280Gly)
n.2182A>G
c.616-736A>G (n.616-736A>G)
c.*774A>G (n.*774A>G)
c.758A>G (p.Glu253Gly)
c.779A>G (p.Glu260Gly)
n.213A>G
c.986A>G (p.Glu329Gly)
c.761A>G (p.Glu254Gly)
c.983A>G (p.Glu328Gly)
c.833A>G (p.Glu278Gly)
c.626A>G (p.Glu209Gly)
c.413A>G (p.Glu138Gly)
n.651A>G
Xg.154562823A>TCA415215988IKBKGc.746A>T (p.Glu249Val)
c.782A>T (p.Glu261Val)
c.380A>T (p.Glu127Val)
c.*163A>T (n.*163A>T)
n.2179A>T
c.629A>T (p.Glu210Val)
c.839A>T (p.Glu280Val)
n.2182A>T
c.616-736A>T (n.616-736A>T)
c.*774A>T (n.*774A>T)
c.758A>T (p.Glu253Val)
c.779A>T (p.Glu260Val)
n.213A>T
c.986A>T (p.Glu329Val)
c.761A>T (p.Glu254Val)
c.983A>T (p.Glu328Val)
c.833A>T (p.Glu278Val)
c.626A>T (p.Glu209Val)
c.413A>T (p.Glu138Val)
n.651A>T
Xg.154562824A>CCA415215992IKBKGc.747A>C (p.Glu249Asp)
c.783A>C (p.Glu261Asp)
c.381A>C (p.Glu127Asp)
c.*164A>C (n.*164A>C)
n.2180A>C
c.630A>C (p.Glu210Asp)
c.840A>C (p.Glu280Asp)
n.2183A>C
c.616-735A>C (n.616-735A>C)
c.*775A>C (n.*775A>C)
c.759A>C (p.Glu253Asp)
c.780A>C (p.Glu260Asp)
n.214A>C
c.987A>C (p.Glu329Asp)
c.762A>C (p.Glu254Asp)
c.984A>C (p.Glu328Asp)
c.834A>C (p.Glu278Asp)
c.627A>C (p.Glu209Asp)
c.414A>C (p.Glu138Asp)
n.652A>C
Xg.154562824A>GCA519286360IKBKGc.747A>G (p.Glu249=)
c.783A>G (p.Glu261=)
c.381A>G (p.Glu127=)
c.*164A>G (n.*164A>G)
n.2180A>G
c.630A>G (p.Glu210=)
c.840A>G (p.Glu280=)
n.2183A>G
c.616-735A>G (n.616-735A>G)
c.*775A>G (n.*775A>G)
c.759A>G (p.Glu253=)
c.780A>G (p.Glu260=)
n.214A>G
c.987A>G (p.Glu329=)
c.762A>G (p.Glu254=)
c.984A>G (p.Glu328=)
c.834A>G (p.Glu278=)
c.627A>G (p.Glu209=)
c.414A>G (p.Glu138=)
n.652A>G
Xg.154562824A>TCA415215994IKBKGc.747A>T (p.Glu249Asp)
c.783A>T (p.Glu261Asp)
c.381A>T (p.Glu127Asp)
c.*164A>T (n.*164A>T)
n.2180A>T
c.630A>T (p.Glu210Asp)
c.840A>T (p.Glu280Asp)
n.2183A>T
c.616-735A>T (n.616-735A>T)
c.*775A>T (n.*775A>T)
c.759A>T (p.Glu253Asp)
c.780A>T (p.Glu260Asp)
n.214A>T
c.987A>T (p.Glu329Asp)
c.762A>T (p.Glu254Asp)
c.984A>T (p.Glu328Asp)
c.834A>T (p.Glu278Asp)
c.627A>T (p.Glu209Asp)
c.414A>T (p.Glu138Asp)
n.652A>T
Xg.154562825G>ACA415215998IKBKGc.748G>A (p.Asp250Asn)
c.784G>A (p.Asp262Asn)
c.382G>A (p.Asp128Asn)
c.*165G>A (n.*165G>A)
n.2181G>A
c.631G>A (p.Asp211Asn)
c.841G>A (p.Asp281Asn)
n.2184G>A
c.616-734G>A (n.616-734G>A)
c.*776G>A (n.*776G>A)
c.760G>A (p.Asp254Asn)
c.781G>A (p.Asp261Asn)
n.215G>A
c.988G>A (p.Asp330Asn)
c.763G>A (p.Asp255Asn)
c.985G>A (p.Asp329Asn)
c.835G>A (p.Asp279Asn)
c.628G>A (p.Asp210Asn)
c.415G>A (p.Asp139Asn)
n.653G>A
Xg.154562825G>CCA415216001IKBKGc.748G>C (p.Asp250His)
c.784G>C (p.Asp262His)
c.382G>C (p.Asp128His)
c.*165G>C (n.*165G>C)
n.2181G>C
c.631G>C (p.Asp211His)
c.841G>C (p.Asp281His)
n.2184G>C
c.616-734G>C (n.616-734G>C)
c.*776G>C (n.*776G>C)
c.760G>C (p.Asp254His)
c.781G>C (p.Asp261His)
n.215G>C
c.988G>C (p.Asp330His)
c.763G>C (p.Asp255His)
c.985G>C (p.Asp329His)
c.835G>C (p.Asp279His)
c.628G>C (p.Asp210His)
c.415G>C (p.Asp139His)
n.653G>C
Xg.154562825G=CA2466733994IKBKGc.748G= (p.Asp250=)
c.784G= (p.Asp262=)
c.382G= (p.Asp128=)
c.*165G= (n.*165G=)
n.2181G=
c.631G= (p.Asp211=)
c.841G= (p.Asp281=)
n.2184G=
c.616-734G= (n.616-734G=)
c.*776G= (n.*776G=)
c.760G= (p.Asp254=)
c.781G= (p.Asp261=)
n.215G=
c.988G= (p.Asp330=)
c.763G= (p.Asp255=)
c.985G= (p.Asp329=)
c.835G= (p.Asp279=)
c.628G= (p.Asp210=)
c.415G= (p.Asp139=)
n.653G=
Xg.154562825G>TCA415216005IKBKGc.748G>T (p.Asp250Tyr)
c.784G>T (p.Asp262Tyr)
c.382G>T (p.Asp128Tyr)
c.*165G>T (n.*165G>T)
n.2181G>T
c.631G>T (p.Asp211Tyr)
c.841G>T (p.Asp281Tyr)
n.2184G>T
c.616-734G>T (n.616-734G>T)
c.*776G>T (n.*776G>T)
c.760G>T (p.Asp254Tyr)
c.781G>T (p.Asp261Tyr)
n.215G>T
c.988G>T (p.Asp330Tyr)
c.763G>T (p.Asp255Tyr)
c.985G>T (p.Asp329Tyr)
c.835G>T (p.Asp279Tyr)
c.628G>T (p.Asp210Tyr)
c.415G>T (p.Asp139Tyr)
n.653G>T
dbSNP gnomAD v4
Xg.154562826A>CCA415216016IKBKGc.749A>C (p.Asp250Ala)
c.785A>C (p.Asp262Ala)
c.383A>C (p.Asp128Ala)
c.*166A>C (n.*166A>C)
n.2182A>C
c.632A>C (p.Asp211Ala)
c.842A>C (p.Asp281Ala)
n.2185A>C
c.616-733A>C (n.616-733A>C)
c.*777A>C (n.*777A>C)
c.761A>C (p.Asp254Ala)
c.782A>C (p.Asp261Ala)
n.216A>C
c.989A>C (p.Asp330Ala)
c.764A>C (p.Asp255Ala)
c.986A>C (p.Asp329Ala)
c.836A>C (p.Asp279Ala)
c.629A>C (p.Asp210Ala)
c.416A>C (p.Asp139Ala)
n.654A>C
Xg.154562826A>GCA415216009IKBKGc.749A>G (p.Asp250Gly)
c.785A>G (p.Asp262Gly)
c.383A>G (p.Asp128Gly)
c.*166A>G (n.*166A>G)
n.2182A>G
c.632A>G (p.Asp211Gly)
c.842A>G (p.Asp281Gly)
n.2185A>G
c.616-733A>G (n.616-733A>G)
c.*777A>G (n.*777A>G)
c.761A>G (p.Asp254Gly)
c.782A>G (p.Asp261Gly)
n.216A>G
c.989A>G (p.Asp330Gly)
c.764A>G (p.Asp255Gly)
c.986A>G (p.Asp329Gly)
c.836A>G (p.Asp279Gly)
c.629A>G (p.Asp210Gly)
c.416A>G (p.Asp139Gly)
n.654A>G
Xg.154562826A>TCA415216013IKBKGc.749A>T (p.Asp250Val)
c.785A>T (p.Asp262Val)
c.383A>T (p.Asp128Val)
c.*166A>T (n.*166A>T)
n.2182A>T
c.632A>T (p.Asp211Val)
c.842A>T (p.Asp281Val)
n.2185A>T
c.616-733A>T (n.616-733A>T)
c.*777A>T (n.*777A>T)
c.761A>T (p.Asp254Val)
c.782A>T (p.Asp261Val)
n.216A>T
c.989A>T (p.Asp330Val)
c.764A>T (p.Asp255Val)
c.986A>T (p.Asp329Val)
c.836A>T (p.Asp279Val)
c.629A>T (p.Asp210Val)
c.416A>T (p.Asp139Val)
n.654A>T
Xg.154562827T>ACA415216019IKBKGc.750T>A (p.Asp250Glu)
c.786T>A (p.Asp262Glu)
c.384T>A (p.Asp128Glu)
c.*167T>A (n.*167T>A)
n.2183T>A
c.633T>A (p.Asp211Glu)
c.843T>A (p.Asp281Glu)
n.2186T>A
c.616-732T>A (n.616-732T>A)
c.*778T>A (n.*778T>A)
c.762T>A (p.Asp254Glu)
c.783T>A (p.Asp261Glu)
n.217T>A
c.990T>A (p.Asp330Glu)
c.765T>A (p.Asp255Glu)
c.987T>A (p.Asp329Glu)
c.837T>A (p.Asp279Glu)
c.630T>A (p.Asp210Glu)
c.417T>A (p.Asp139Glu)
n.655T>A
dbSNP gnomAD v3 gnomAD v4
Xg.154562827T>CCA519286366IKBKGc.750T>C (p.Asp250=)
c.786T>C (p.Asp262=)
c.384T>C (p.Asp128=)
c.*167T>C (n.*167T>C)
n.2183T>C
c.633T>C (p.Asp211=)
c.843T>C (p.Asp281=)
n.2186T>C
c.616-732T>C (n.616-732T>C)
c.*778T>C (n.*778T>C)
c.762T>C (p.Asp254=)
c.783T>C (p.Asp261=)
n.217T>C
c.990T>C (p.Asp330=)
c.765T>C (p.Asp255=)
c.987T>C (p.Asp329=)
c.837T>C (p.Asp279=)
c.630T>C (p.Asp210=)
c.417T>C (p.Asp139=)
n.655T>C
Xg.154562827T>GCA415216021IKBKGc.750T>G (p.Asp250Glu)
c.786T>G (p.Asp262Glu)
c.384T>G (p.Asp128Glu)
c.*167T>G (n.*167T>G)
n.2183T>G
c.633T>G (p.Asp211Glu)
c.843T>G (p.Asp281Glu)
n.2186T>G
c.616-732T>G (n.616-732T>G)
c.*778T>G (n.*778T>G)
c.762T>G (p.Asp254Glu)
c.783T>G (p.Asp261Glu)
n.217T>G
c.990T>G (p.Asp330Glu)
c.765T>G (p.Asp255Glu)
c.987T>G (p.Asp329Glu)
c.837T>G (p.Asp279Glu)
c.630T>G (p.Asp210Glu)
c.417T>G (p.Asp139Glu)
n.655T>G
Xg.154562827T=CA2466733997IKBKGc.750T= (p.Asp250=)
c.786T= (p.Asp262=)
c.384T= (p.Asp128=)
c.*167T= (n.*167T=)
n.2183T=
c.633T= (p.Asp211=)
c.843T= (p.Asp281=)
n.2186T=
c.616-732T= (n.616-732T=)
c.*778T= (n.*778T=)
c.762T= (p.Asp254=)
c.783T= (p.Asp261=)
n.217T=
c.990T= (p.Asp330=)
c.765T= (p.Asp255=)
c.987T= (p.Asp329=)
c.837T= (p.Asp279=)
c.630T= (p.Asp210=)
c.417T= (p.Asp139=)
n.655T=
Xg.154562828C>ACA415216026IKBKGc.751C>A (p.Leu251Ile)
c.787C>A (p.Leu263Ile)
c.385C>A (p.Leu129Ile)
c.*168C>A (n.*168C>A)
n.2184C>A
c.634C>A (p.Leu212Ile)
c.844C>A (p.Leu282Ile)
n.2187C>A
c.616-731C>A (n.616-731C>A)
c.*779C>A (n.*779C>A)
c.763C>A (p.Leu255Ile)
c.784C>A (p.Leu262Ile)
n.218C>A
c.991C>A (p.Leu331Ile)
c.766C>A (p.Leu256Ile)
c.988C>A (p.Leu330Ile)
c.838C>A (p.Leu280Ile)
c.631C>A (p.Leu211Ile)
c.418C>A (p.Leu140Ile)
n.656C>A
Xg.154562828C>GCA415216027IKBKGc.751C>G (p.Leu251Val)
c.787C>G (p.Leu263Val)
c.385C>G (p.Leu129Val)
c.*168C>G (n.*168C>G)
n.2184C>G
c.634C>G (p.Leu212Val)
c.844C>G (p.Leu282Val)
n.2187C>G
c.616-731C>G (n.616-731C>G)
c.*779C>G (n.*779C>G)
c.763C>G (p.Leu255Val)
c.784C>G (p.Leu262Val)
n.218C>G
c.991C>G (p.Leu331Val)
c.766C>G (p.Leu256Val)
c.988C>G (p.Leu330Val)
c.838C>G (p.Leu280Val)
c.631C>G (p.Leu211Val)
c.418C>G (p.Leu140Val)
n.656C>G
ClinVar dbSNP gnomAD v4
Xg.154562828C>TCA415216030IKBKGc.751C>T (p.Leu251Phe)
c.787C>T (p.Leu263Phe)
c.385C>T (p.Leu129Phe)
c.*168C>T (n.*168C>T)
n.2184C>T
c.634C>T (p.Leu212Phe)
c.844C>T (p.Leu282Phe)
n.2187C>T
c.616-731C>T (n.616-731C>T)
c.*779C>T (n.*779C>T)
c.763C>T (p.Leu255Phe)
c.784C>T (p.Leu262Phe)
n.218C>T
c.991C>T (p.Leu331Phe)
c.766C>T (p.Leu256Phe)
c.988C>T (p.Leu330Phe)
c.838C>T (p.Leu280Phe)
c.631C>T (p.Leu211Phe)
c.418C>T (p.Leu140Phe)
n.656C>T
gnomAD v4
Xg.154562829T>ACA415216034IKBKGc.752T>A (p.Leu251His)
c.788T>A (p.Leu263His)
c.386T>A (p.Leu129His)
c.*169T>A (n.*169T>A)
n.2185T>A
c.635T>A (p.Leu212His)
c.845T>A (p.Leu282His)
n.2188T>A
c.616-730T>A (n.616-730T>A)
c.*780T>A (n.*780T>A)
c.764T>A (p.Leu255His)
c.785T>A (p.Leu262His)
n.219T>A
c.992T>A (p.Leu331His)
c.767T>A (p.Leu256His)
c.989T>A (p.Leu330His)
c.839T>A (p.Leu280His)
c.632T>A (p.Leu211His)
c.419T>A (p.Leu140His)
n.657T>A
Xg.154562829T>CCA415216036IKBKGc.752T>C (p.Leu251Pro)
c.788T>C (p.Leu263Pro)
c.386T>C (p.Leu129Pro)
c.*169T>C (n.*169T>C)
n.2185T>C
c.635T>C (p.Leu212Pro)
c.845T>C (p.Leu282Pro)
n.2188T>C
c.616-730T>C (n.616-730T>C)
c.*780T>C (n.*780T>C)
c.764T>C (p.Leu255Pro)
c.785T>C (p.Leu262Pro)
n.219T>C
c.992T>C (p.Leu331Pro)
c.767T>C (p.Leu256Pro)
c.989T>C (p.Leu330Pro)
c.839T>C (p.Leu280Pro)
c.632T>C (p.Leu211Pro)
c.419T>C (p.Leu140Pro)
n.657T>C
Xg.154562829T>GCA415216039IKBKGc.752T>G (p.Leu251Arg)
c.788T>G (p.Leu263Arg)
c.386T>G (p.Leu129Arg)
c.*169T>G (n.*169T>G)
n.2185T>G
c.635T>G (p.Leu212Arg)
c.845T>G (p.Leu282Arg)
n.2188T>G
c.616-730T>G (n.616-730T>G)
c.*780T>G (n.*780T>G)
c.764T>G (p.Leu255Arg)
c.785T>G (p.Leu262Arg)
n.219T>G
c.992T>G (p.Leu331Arg)
c.767T>G (p.Leu256Arg)
c.989T>G (p.Leu330Arg)
c.839T>G (p.Leu280Arg)
c.632T>G (p.Leu211Arg)
c.419T>G (p.Leu140Arg)
n.657T>G
Xg.154562830C>ACA519286371IKBKGc.753C>A (p.Leu251=)
c.789C>A (p.Leu263=)
c.387C>A (p.Leu129=)
c.*170C>A (n.*170C>A)
n.2186C>A
c.636C>A (p.Leu212=)
c.846C>A (p.Leu282=)
n.2189C>A
c.616-729C>A (n.616-729C>A)
c.*781C>A (n.*781C>A)
c.765C>A (p.Leu255=)
c.786C>A (p.Leu262=)
n.220C>A
c.993C>A (p.Leu331=)
c.768C>A (p.Leu256=)
c.990C>A (p.Leu330=)
c.840C>A (p.Leu280=)
c.633C>A (p.Leu211=)
c.420C>A (p.Leu140=)
n.658C>A
Xg.154562830C=CA2466734001IKBKGc.753C= (p.Leu251=)
c.789C= (p.Leu263=)
c.387C= (p.Leu129=)
c.*170C= (n.*170C=)
n.2186C=
c.636C= (p.Leu212=)
c.846C= (p.Leu282=)
n.2189C=
c.616-729C= (n.616-729C=)
c.*781C= (n.*781C=)
c.765C= (p.Leu255=)
c.786C= (p.Leu262=)
n.220C=
c.993C= (p.Leu331=)
c.768C= (p.Leu256=)
c.990C= (p.Leu330=)
c.840C= (p.Leu280=)
c.633C= (p.Leu211=)
c.420C= (p.Leu140=)
n.658C=
Xg.154562830C>GCA519286372IKBKGc.753C>G (p.Leu251=)
c.789C>G (p.Leu263=)
c.387C>G (p.Leu129=)
c.*170C>G (n.*170C>G)
n.2186C>G
c.636C>G (p.Leu212=)
c.846C>G (p.Leu282=)
n.2189C>G
c.616-729C>G (n.616-729C>G)
c.*781C>G (n.*781C>G)
c.765C>G (p.Leu255=)
c.786C>G (p.Leu262=)
n.220C>G
c.993C>G (p.Leu331=)
c.768C>G (p.Leu256=)
c.990C>G (p.Leu330=)
c.840C>G (p.Leu280=)
c.633C>G (p.Leu211=)
c.420C>G (p.Leu140=)
n.658C>G
Xg.154562830C>TCA519286374IKBKGc.753C>T (p.Leu251=)
c.789C>T (p.Leu263=)
c.387C>T (p.Leu129=)
c.*170C>T (n.*170C>T)
n.2186C>T
c.636C>T (p.Leu212=)
c.846C>T (p.Leu282=)
n.2189C>T
c.616-729C>T (n.616-729C>T)
c.*781C>T (n.*781C>T)
c.765C>T (p.Leu255=)
c.786C>T (p.Leu262=)
n.220C>T
c.993C>T (p.Leu331=)
c.768C>T (p.Leu256=)
c.990C>T (p.Leu330=)
c.840C>T (p.Leu280=)
c.633C>T (p.Leu211=)
c.420C>T (p.Leu140=)
n.658C>T
Xg.154562831A>CCA415216045IKBKGc.754A>C (p.Lys252Gln)
c.790A>C (p.Lys264Gln)
c.388A>C (p.Lys130Gln)
c.*171A>C (n.*171A>C)
n.2187A>C
c.637A>C (p.Lys213Gln)
c.847A>C (p.Lys283Gln)
n.2190A>C
c.616-728A>C (n.616-728A>C)
c.*782A>C (n.*782A>C)
c.766A>C (p.Lys256Gln)
c.787A>C (p.Lys263Gln)
n.221A>C
c.994A>C (p.Lys332Gln)
c.769A>C (p.Lys257Gln)
c.991A>C (p.Lys331Gln)
c.841A>C (p.Lys281Gln)
c.634A>C (p.Lys212Gln)
c.421A>C (p.Lys141Gln)
n.659A>C
Xg.154562831A>GCA415216046IKBKGc.754A>G (p.Lys252Glu)
c.790A>G (p.Lys264Glu)
c.388A>G (p.Lys130Glu)
c.*171A>G (n.*171A>G)
n.2187A>G
c.637A>G (p.Lys213Glu)
c.847A>G (p.Lys283Glu)
n.2190A>G
c.616-728A>G (n.616-728A>G)
c.*782A>G (n.*782A>G)
c.766A>G (p.Lys256Glu)
c.787A>G (p.Lys263Glu)
n.221A>G
c.994A>G (p.Lys332Glu)
c.769A>G (p.Lys257Glu)
c.991A>G (p.Lys331Glu)
c.841A>G (p.Lys281Glu)
c.634A>G (p.Lys212Glu)
c.421A>G (p.Lys141Glu)
n.659A>G
Xg.154562831A>TCA415216050IKBKGc.754A>T (p.Lys252Ter)
c.790A>T (p.Lys264Ter)
c.388A>T (p.Lys130Ter)
c.*171A>T (n.*171A>T)
n.2187A>T
c.637A>T (p.Lys213Ter)
c.847A>T (p.Lys283Ter)
n.2190A>T
c.616-728A>T (n.616-728A>T)
c.*782A>T (n.*782A>T)
c.766A>T (p.Lys256Ter)
c.787A>T (p.Lys263Ter)
n.221A>T
c.994A>T (p.Lys332Ter)
c.769A>T (p.Lys257Ter)
c.991A>T (p.Lys331Ter)
c.841A>T (p.Lys281Ter)
c.634A>T (p.Lys212Ter)
c.421A>T (p.Lys141Ter)
n.659A>T
gnomAD v4
Xg.154562833dupCA658659076IKBKGc.756dup (p.Gln253ThrfsTer19)
c.792dup (p.Gln265ThrfsTer19)
c.390dup (p.Gln131ThrfsTer19)
c.*173dup (n.*173dup)
n.2189dup
c.639dup (p.Gln214ThrfsTer19)
c.849dup (p.Gln284ThrfsTer19)
n.2192dup
c.616-726dup (n.616-726dup)
c.*784dup (n.*784dup)
c.768dup (p.Gln257ThrfsTer19)
c.789dup (p.Gln264ThrfsTer19)
n.223dup
c.996dup (p.Gln333ThrfsTer19)
c.771dup (p.Gln258ThrfsTer19)
c.993dup (p.Gln332ThrfsTer19)
c.843dup (p.Gln282ThrfsTer19)
c.636dup (p.Gln213ThrfsTer19)
c.423dup (p.Gln142ThrfsTer19)
n.661dup
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154562832A>CCA415216057IKBKGc.755A>C (p.Lys252Thr)
c.791A>C (p.Lys264Thr)
c.389A>C (p.Lys130Thr)
c.*172A>C (n.*172A>C)
n.2188A>C
c.638A>C (p.Lys213Thr)
c.848A>C (p.Lys283Thr)
n.2191A>C
c.616-727A>C (n.616-727A>C)
c.*783A>C (n.*783A>C)
c.767A>C (p.Lys256Thr)
c.788A>C (p.Lys263Thr)
n.222A>C
c.995A>C (p.Lys332Thr)
c.770A>C (p.Lys257Thr)
c.992A>C (p.Lys331Thr)
c.842A>C (p.Lys281Thr)
c.635A>C (p.Lys212Thr)
c.422A>C (p.Lys141Thr)
n.660A>C
Xg.154562832A>GCA415216060IKBKGc.755A>G (p.Lys252Arg)
c.791A>G (p.Lys264Arg)
c.389A>G (p.Lys130Arg)
c.*172A>G (n.*172A>G)
n.2188A>G
c.638A>G (p.Lys213Arg)
c.848A>G (p.Lys283Arg)
n.2191A>G
c.616-727A>G (n.616-727A>G)
c.*783A>G (n.*783A>G)
c.767A>G (p.Lys256Arg)
c.788A>G (p.Lys263Arg)
n.222A>G
c.995A>G (p.Lys332Arg)
c.770A>G (p.Lys257Arg)
c.992A>G (p.Lys331Arg)
c.842A>G (p.Lys281Arg)
c.635A>G (p.Lys212Arg)
c.422A>G (p.Lys141Arg)
n.660A>G
Xg.154562832A>TCA415216054IKBKGc.755A>T (p.Lys252Ile)
c.791A>T (p.Lys264Ile)
c.389A>T (p.Lys130Ile)
c.*172A>T (n.*172A>T)
n.2188A>T
c.638A>T (p.Lys213Ile)
c.848A>T (p.Lys283Ile)
n.2191A>T
c.616-727A>T (n.616-727A>T)
c.*783A>T (n.*783A>T)
c.767A>T (p.Lys256Ile)
c.788A>T (p.Lys263Ile)
n.222A>T
c.995A>T (p.Lys332Ile)
c.770A>T (p.Lys257Ile)
c.992A>T (p.Lys331Ile)
c.842A>T (p.Lys281Ile)
c.635A>T (p.Lys212Ile)
c.422A>T (p.Lys141Ile)
n.660A>T
Xg.154562833A>CCA415216064IKBKGc.756A>C (p.Lys252Asn)
c.792A>C (p.Lys264Asn)
c.390A>C (p.Lys130Asn)
c.*173A>C (n.*173A>C)
n.2189A>C
c.639A>C (p.Lys213Asn)
c.849A>C (p.Lys283Asn)
n.2192A>C
c.616-726A>C (n.616-726A>C)
c.*784A>C (n.*784A>C)
c.768A>C (p.Lys256Asn)
c.789A>C (p.Lys263Asn)
n.223A>C
c.996A>C (p.Lys332Asn)
c.771A>C (p.Lys257Asn)
c.993A>C (p.Lys331Asn)
c.843A>C (p.Lys281Asn)
c.636A>C (p.Lys212Asn)
c.423A>C (p.Lys141Asn)
n.661A>C
Xg.154562833A>GCA519286375IKBKGc.756A>G (p.Lys252=)
c.792A>G (p.Lys264=)
c.390A>G (p.Lys130=)
c.*173A>G (n.*173A>G)
n.2189A>G
c.639A>G (p.Lys213=)
c.849A>G (p.Lys283=)
n.2192A>G
c.616-726A>G (n.616-726A>G)
c.*784A>G (n.*784A>G)
c.768A>G (p.Lys256=)
c.789A>G (p.Lys263=)
n.223A>G
c.996A>G (p.Lys332=)
c.771A>G (p.Lys257=)
c.993A>G (p.Lys331=)
c.843A>G (p.Lys281=)
c.636A>G (p.Lys212=)
c.423A>G (p.Lys141=)
n.661A>G
Xg.154562833A>TCA415216067IKBKGc.756A>T (p.Lys252Asn)
c.792A>T (p.Lys264Asn)
c.390A>T (p.Lys130Asn)
c.*173A>T (n.*173A>T)
n.2189A>T
c.639A>T (p.Lys213Asn)
c.849A>T (p.Lys283Asn)
n.2192A>T
c.616-726A>T (n.616-726A>T)
c.*784A>T (n.*784A>T)
c.768A>T (p.Lys256Asn)
c.789A>T (p.Lys263Asn)
n.223A>T
c.996A>T (p.Lys332Asn)
c.771A>T (p.Lys257Asn)
c.993A>T (p.Lys331Asn)
c.843A>T (p.Lys281Asn)
c.636A>T (p.Lys212Asn)
c.423A>T (p.Lys141Asn)
n.661A>T
Xg.154562834C>ACA415216072IKBKGc.757C>A (p.Gln253Lys)
c.793C>A (p.Gln265Lys)
c.391C>A (p.Gln131Lys)
c.*174C>A (n.*174C>A)
n.2190C>A
c.640C>A (p.Gln214Lys)
c.850C>A (p.Gln284Lys)
n.2193C>A
c.616-725C>A (n.616-725C>A)
c.*785C>A (n.*785C>A)
c.769C>A (p.Gln257Lys)
c.790C>A (p.Gln264Lys)
n.224C>A
c.997C>A (p.Gln333Lys)
c.772C>A (p.Gln258Lys)
c.994C>A (p.Gln332Lys)
c.844C>A (p.Gln282Lys)
c.637C>A (p.Gln213Lys)
c.424C>A (p.Gln142Lys)
n.662C>A
Xg.154562834C>GCA415216079IKBKGc.757C>G (p.Gln253Glu)
c.793C>G (p.Gln265Glu)
c.391C>G (p.Gln131Glu)
c.*174C>G (n.*174C>G)
n.2190C>G
c.640C>G (p.Gln214Glu)
c.850C>G (p.Gln284Glu)
n.2193C>G
c.616-725C>G (n.616-725C>G)
c.*785C>G (n.*785C>G)
c.769C>G (p.Gln257Glu)
c.790C>G (p.Gln264Glu)
n.224C>G
c.997C>G (p.Gln333Glu)
c.772C>G (p.Gln258Glu)
c.994C>G (p.Gln332Glu)
c.844C>G (p.Gln282Glu)
c.637C>G (p.Gln213Glu)
c.424C>G (p.Gln142Glu)
n.662C>G
Xg.154562834C>TCA415216082IKBKGc.757C>T (p.Gln253Ter)
c.793C>T (p.Gln265Ter)
c.391C>T (p.Gln131Ter)
c.*174C>T (n.*174C>T)
n.2190C>T
c.640C>T (p.Gln214Ter)
c.850C>T (p.Gln284Ter)
n.2193C>T
c.616-725C>T (n.616-725C>T)
c.*785C>T (n.*785C>T)
c.769C>T (p.Gln257Ter)
c.790C>T (p.Gln264Ter)
n.224C>T
c.997C>T (p.Gln333Ter)
c.772C>T (p.Gln258Ter)
c.994C>T (p.Gln332Ter)
c.844C>T (p.Gln282Ter)
c.637C>T (p.Gln213Ter)
c.424C>T (p.Gln142Ter)
n.662C>T
Xg.154562835A=CA2466734009IKBKGc.758A= (p.Gln253=)
c.794A= (p.Gln265=)
c.392A= (p.Gln131=)
c.*175A= (n.*175A=)
n.2191A=
c.641A= (p.Gln214=)
c.851A= (p.Gln284=)
n.2194A=
c.616-724A= (n.616-724A=)
c.*786A= (n.*786A=)
c.770A= (p.Gln257=)
c.791A= (p.Gln264=)
n.225A=
c.998A= (p.Gln333=)
c.773A= (p.Gln258=)
c.995A= (p.Gln332=)
c.845A= (p.Gln282=)
c.638A= (p.Gln213=)
c.425A= (p.Gln142=)
n.663A=
Xg.154562835A>CCA415216090IKBKGc.758A>C (p.Gln253Pro)
c.794A>C (p.Gln265Pro)
c.392A>C (p.Gln131Pro)
c.*175A>C (n.*175A>C)
n.2191A>C
c.641A>C (p.Gln214Pro)
c.851A>C (p.Gln284Pro)
n.2194A>C
c.616-724A>C (n.616-724A>C)
c.*786A>C (n.*786A>C)
c.770A>C (p.Gln257Pro)
c.791A>C (p.Gln264Pro)
n.225A>C
c.998A>C (p.Gln333Pro)
c.773A>C (p.Gln258Pro)
c.995A>C (p.Gln332Pro)
c.845A>C (p.Gln282Pro)
c.638A>C (p.Gln213Pro)
c.425A>C (p.Gln142Pro)
n.663A>C
Xg.154562835A>GCA415216085IKBKGc.758A>G (p.Gln253Arg)
c.794A>G (p.Gln265Arg)
c.392A>G (p.Gln131Arg)
c.*175A>G (n.*175A>G)
n.2191A>G
c.641A>G (p.Gln214Arg)
c.851A>G (p.Gln284Arg)
n.2194A>G
c.616-724A>G (n.616-724A>G)
c.*786A>G (n.*786A>G)
c.770A>G (p.Gln257Arg)
c.791A>G (p.Gln264Arg)
n.225A>G
c.998A>G (p.Gln333Arg)
c.773A>G (p.Gln258Arg)
c.995A>G (p.Gln332Arg)
c.845A>G (p.Gln282Arg)
c.638A>G (p.Gln213Arg)
c.425A>G (p.Gln142Arg)
n.663A>G
dbSNP
Xg.154562835A>TCA415216088IKBKGc.758A>T (p.Gln253Leu)
c.794A>T (p.Gln265Leu)
c.392A>T (p.Gln131Leu)
c.*175A>T (n.*175A>T)
n.2191A>T
c.641A>T (p.Gln214Leu)
c.851A>T (p.Gln284Leu)
n.2194A>T
c.616-724A>T (n.616-724A>T)
c.*786A>T (n.*786A>T)
c.770A>T (p.Gln257Leu)
c.791A>T (p.Gln264Leu)
n.225A>T
c.998A>T (p.Gln333Leu)
c.773A>T (p.Gln258Leu)
c.995A>T (p.Gln332Leu)
c.845A>T (p.Gln282Leu)
c.638A>T (p.Gln213Leu)
c.425A>T (p.Gln142Leu)
n.663A>T
Xg.154562836G>ACA519286380IKBKGc.759G>A (p.Gln253=)
c.795G>A (p.Gln265=)
c.393G>A (p.Gln131=)
c.*176G>A (n.*176G>A)
n.2192G>A
c.642G>A (p.Gln214=)
c.852G>A (p.Gln284=)
n.2195G>A
c.616-723G>A (n.616-723G>A)
c.*787G>A (n.*787G>A)
c.771G>A (p.Gln257=)
c.792G>A (p.Gln264=)
n.226G>A
c.999G>A (p.Gln333=)
c.774G>A (p.Gln258=)
c.996G>A (p.Gln332=)
c.846G>A (p.Gln282=)
c.639G>A (p.Gln213=)
c.426G>A (p.Gln142=)
n.664G>A
Xg.154562836G>CCA415216093IKBKGc.759G>C (p.Gln253His)
c.795G>C (p.Gln265His)
c.393G>C (p.Gln131His)
c.*176G>C (n.*176G>C)
n.2192G>C
c.642G>C (p.Gln214His)
c.852G>C (p.Gln284His)
n.2195G>C
c.616-723G>C (n.616-723G>C)
c.*787G>C (n.*787G>C)
c.771G>C (p.Gln257His)
c.792G>C (p.Gln264His)
n.226G>C
c.999G>C (p.Gln333His)
c.774G>C (p.Gln258His)
c.996G>C (p.Gln332His)
c.846G>C (p.Gln282His)
c.639G>C (p.Gln213His)
c.426G>C (p.Gln142His)
n.664G>C
Xg.154562836G>TCA415216094IKBKGc.759G>T (p.Gln253His)
c.795G>T (p.Gln265His)
c.393G>T (p.Gln131His)
c.*176G>T (n.*176G>T)
n.2192G>T
c.642G>T (p.Gln214His)
c.852G>T (p.Gln284His)
n.2195G>T
c.616-723G>T (n.616-723G>T)
c.*787G>T (n.*787G>T)
c.771G>T (p.Gln257His)
c.792G>T (p.Gln264His)
n.226G>T
c.999G>T (p.Gln333His)
c.774G>T (p.Gln258His)
c.996G>T (p.Gln332His)
c.846G>T (p.Gln282His)
c.639G>T (p.Gln213His)
c.426G>T (p.Gln142His)
n.664G>T
Xg.154562837C>ACA415216095IKBKGc.760C>A (p.Gln254Lys)
c.796C>A (p.Gln266Lys)
c.394C>A (p.Gln132Lys)
c.*177C>A (n.*177C>A)
n.2193C>A
c.643C>A (p.Gln215Lys)
c.853C>A (p.Gln285Lys)
n.2196C>A
c.616-722C>A (n.616-722C>A)
c.*788C>A (n.*788C>A)
c.772C>A (p.Gln258Lys)
c.793C>A (p.Gln265Lys)
n.227C>A
c.1000C>A (p.Gln334Lys)
c.775C>A (p.Gln259Lys)
c.997C>A (p.Gln333Lys)
c.847C>A (p.Gln283Lys)
c.640C>A (p.Gln214Lys)
c.427C>A (p.Gln143Lys)
n.665C>A
Xg.154562837C>GCA415216096IKBKGc.760C>G (p.Gln254Glu)
c.796C>G (p.Gln266Glu)
c.394C>G (p.Gln132Glu)
c.*177C>G (n.*177C>G)
n.2193C>G
c.643C>G (p.Gln215Glu)
c.853C>G (p.Gln285Glu)
n.2196C>G
c.616-722C>G (n.616-722C>G)
c.*788C>G (n.*788C>G)
c.772C>G (p.Gln258Glu)
c.793C>G (p.Gln265Glu)
n.227C>G
c.1000C>G (p.Gln334Glu)
c.775C>G (p.Gln259Glu)
c.997C>G (p.Gln333Glu)
c.847C>G (p.Gln283Glu)
c.640C>G (p.Gln214Glu)
c.427C>G (p.Gln143Glu)
n.665C>G
Xg.154562837C>TCA415216097IKBKGc.760C>T (p.Gln254Ter)
c.796C>T (p.Gln266Ter)
c.394C>T (p.Gln132Ter)
c.*177C>T (n.*177C>T)
n.2193C>T
c.643C>T (p.Gln215Ter)
c.853C>T (p.Gln285Ter)
n.2196C>T
c.616-722C>T (n.616-722C>T)
c.*788C>T (n.*788C>T)
c.772C>T (p.Gln258Ter)
c.793C>T (p.Gln265Ter)
n.227C>T
c.1000C>T (p.Gln334Ter)
c.775C>T (p.Gln259Ter)
c.997C>T (p.Gln333Ter)
c.847C>T (p.Gln283Ter)
c.640C>T (p.Gln214Ter)
c.427C>T (p.Gln143Ter)
n.665C>T
Xg.154562838A=CA2466734012IKBKGc.761A= (p.Gln254=)
c.797A= (p.Gln266=)
c.395A= (p.Gln132=)
c.*178A= (n.*178A=)
n.2194A=
c.644A= (p.Gln215=)
c.854A= (p.Gln285=)
n.2197A=
c.616-721A= (n.616-721A=)
c.*789A= (n.*789A=)
c.773A= (p.Gln258=)
c.794A= (p.Gln265=)
n.228A=
c.1001A= (p.Gln334=)
c.776A= (p.Gln259=)
c.998A= (p.Gln333=)
c.848A= (p.Gln283=)
c.641A= (p.Gln214=)
c.428A= (p.Gln143=)
n.666A=
Xg.154562838A>CCA415216098IKBKGc.761A>C (p.Gln254Pro)
c.797A>C (p.Gln266Pro)
c.395A>C (p.Gln132Pro)
c.*178A>C (n.*178A>C)
n.2194A>C
c.644A>C (p.Gln215Pro)
c.854A>C (p.Gln285Pro)
n.2197A>C
c.616-721A>C (n.616-721A>C)
c.*789A>C (n.*789A>C)
c.773A>C (p.Gln258Pro)
c.794A>C (p.Gln265Pro)
n.228A>C
c.1001A>C (p.Gln334Pro)
c.776A>C (p.Gln259Pro)
c.998A>C (p.Gln333Pro)
c.848A>C (p.Gln283Pro)
c.641A>C (p.Gln214Pro)
c.428A>C (p.Gln143Pro)
n.666A>C
dbSNP
Xg.154562838A>GCA415216100IKBKGc.761A>G (p.Gln254Arg)
c.797A>G (p.Gln266Arg)
c.395A>G (p.Gln132Arg)
c.*178A>G (n.*178A>G)
n.2194A>G
c.644A>G (p.Gln215Arg)
c.854A>G (p.Gln285Arg)
n.2197A>G
c.616-721A>G (n.616-721A>G)
c.*789A>G (n.*789A>G)
c.773A>G (p.Gln258Arg)
c.794A>G (p.Gln265Arg)
n.228A>G
c.1001A>G (p.Gln334Arg)
c.776A>G (p.Gln259Arg)
c.998A>G (p.Gln333Arg)
c.848A>G (p.Gln283Arg)
c.641A>G (p.Gln214Arg)
c.428A>G (p.Gln143Arg)
n.666A>G
gnomAD v4
Xg.154562838A>TCA415216099IKBKGc.761A>T (p.Gln254Leu)
c.797A>T (p.Gln266Leu)
c.395A>T (p.Gln132Leu)
c.*178A>T (n.*178A>T)
n.2194A>T
c.644A>T (p.Gln215Leu)
c.854A>T (p.Gln285Leu)
n.2197A>T
c.616-721A>T (n.616-721A>T)
c.*789A>T (n.*789A>T)
c.773A>T (p.Gln258Leu)
c.794A>T (p.Gln265Leu)
n.228A>T
c.1001A>T (p.Gln334Leu)
c.776A>T (p.Gln259Leu)
c.998A>T (p.Gln333Leu)
c.848A>T (p.Gln283Leu)
c.641A>T (p.Gln214Leu)
c.428A>T (p.Gln143Leu)
n.666A>T
Xg.154562839G>ACA519286388IKBKGc.762G>A (p.Gln254=)
c.798G>A (p.Gln266=)
c.396G>A (p.Gln132=)
c.*179G>A (n.*179G>A)
n.2195G>A
c.645G>A (p.Gln215=)
c.855G>A (p.Gln285=)
n.2198G>A
c.616-720G>A (n.616-720G>A)
c.*790G>A (n.*790G>A)
c.774G>A (p.Gln258=)
c.795G>A (p.Gln265=)
n.229G>A
c.1002G>A (p.Gln334=)
c.777G>A (p.Gln259=)
c.999G>A (p.Gln333=)
c.849G>A (p.Gln283=)
c.642G>A (p.Gln214=)
c.429G>A (p.Gln143=)
n.667G>A
Xg.154562839G>CCA415216101IKBKGc.762G>C (p.Gln254His)
c.798G>C (p.Gln266His)
c.396G>C (p.Gln132His)
c.*179G>C (n.*179G>C)
n.2195G>C
c.645G>C (p.Gln215His)
c.855G>C (p.Gln285His)
n.2198G>C
c.616-720G>C (n.616-720G>C)
c.*790G>C (n.*790G>C)
c.774G>C (p.Gln258His)
c.795G>C (p.Gln265His)
n.229G>C
c.1002G>C (p.Gln334His)
c.777G>C (p.Gln259His)
c.999G>C (p.Gln333His)
c.849G>C (p.Gln283His)
c.642G>C (p.Gln214His)
c.429G>C (p.Gln143His)
n.667G>C
Xg.154562839G>TCA415216102IKBKGc.762G>T (p.Gln254His)
c.798G>T (p.Gln266His)
c.396G>T (p.Gln132His)
c.*179G>T (n.*179G>T)
n.2195G>T
c.645G>T (p.Gln215His)
c.855G>T (p.Gln285His)
n.2198G>T
c.616-720G>T (n.616-720G>T)
c.*790G>T (n.*790G>T)
c.774G>T (p.Gln258His)
c.795G>T (p.Gln265His)
n.229G>T
c.1002G>T (p.Gln334His)
c.777G>T (p.Gln259His)
c.999G>T (p.Gln333His)
c.849G>T (p.Gln283His)
c.642G>T (p.Gln214His)
c.429G>T (p.Gln143His)
n.667G>T
Xg.154562840C>ACA415216103IKBKGc.763C>A (p.Leu255Ile)
c.799C>A (p.Leu267Ile)
c.397C>A (p.Leu133Ile)
c.*180C>A (n.*180C>A)
n.2196C>A
c.646C>A (p.Leu216Ile)
c.856C>A (p.Leu286Ile)
n.2199C>A
c.616-719C>A (n.616-719C>A)
c.*791C>A (n.*791C>A)
c.775C>A (p.Leu259Ile)
c.796C>A (p.Leu266Ile)
n.230C>A
c.1003C>A (p.Leu335Ile)
c.778C>A (p.Leu260Ile)
c.1000C>A (p.Leu334Ile)
c.850C>A (p.Leu284Ile)
c.643C>A (p.Leu215Ile)
c.430C>A (p.Leu144Ile)
n.668C>A
Xg.154562840C>GCA415216104IKBKGc.763C>G (p.Leu255Val)
c.799C>G (p.Leu267Val)
c.397C>G (p.Leu133Val)
c.*180C>G (n.*180C>G)
n.2196C>G
c.646C>G (p.Leu216Val)
c.856C>G (p.Leu286Val)
n.2199C>G
c.616-719C>G (n.616-719C>G)
c.*791C>G (n.*791C>G)
c.775C>G (p.Leu259Val)
c.796C>G (p.Leu266Val)
n.230C>G
c.1003C>G (p.Leu335Val)
c.778C>G (p.Leu260Val)
c.1000C>G (p.Leu334Val)
c.850C>G (p.Leu284Val)
c.643C>G (p.Leu215Val)
c.430C>G (p.Leu144Val)
n.668C>G
Xg.154562840C>TCA415216105IKBKGc.763C>T (p.Leu255Phe)
c.799C>T (p.Leu267Phe)
c.397C>T (p.Leu133Phe)
c.*180C>T (n.*180C>T)
n.2196C>T
c.646C>T (p.Leu216Phe)
c.856C>T (p.Leu286Phe)
n.2199C>T
c.616-719C>T (n.616-719C>T)
c.*791C>T (n.*791C>T)
c.775C>T (p.Leu259Phe)
c.796C>T (p.Leu266Phe)
n.230C>T
c.1003C>T (p.Leu335Phe)
c.778C>T (p.Leu260Phe)
c.1000C>T (p.Leu334Phe)
c.850C>T (p.Leu284Phe)
c.643C>T (p.Leu215Phe)
c.430C>T (p.Leu144Phe)
n.668C>T
Xg.154562841T>ACA415216106IKBKGc.764T>A (p.Leu255His)
c.800T>A (p.Leu267His)
c.398T>A (p.Leu133His)
c.*181T>A (n.*181T>A)
n.2197T>A
c.647T>A (p.Leu216His)
c.857T>A (p.Leu286His)
n.2200T>A
c.616-718T>A (n.616-718T>A)
c.*792T>A (n.*792T>A)
c.776T>A (p.Leu259His)
c.797T>A (p.Leu266His)
n.231T>A
c.1004T>A (p.Leu335His)
c.779T>A (p.Leu260His)
c.1001T>A (p.Leu334His)
c.851T>A (p.Leu284His)
c.644T>A (p.Leu215His)
c.431T>A (p.Leu144His)
n.669T>A
Xg.154562841T>CCA415216107IKBKGc.764T>C (p.Leu255Pro)
c.800T>C (p.Leu267Pro)
c.398T>C (p.Leu133Pro)
c.*181T>C (n.*181T>C)
n.2197T>C
c.647T>C (p.Leu216Pro)
c.857T>C (p.Leu286Pro)
n.2200T>C
c.616-718T>C (n.616-718T>C)
c.*792T>C (n.*792T>C)
c.776T>C (p.Leu259Pro)
c.797T>C (p.Leu266Pro)
n.231T>C
c.1004T>C (p.Leu335Pro)
c.779T>C (p.Leu260Pro)
c.1001T>C (p.Leu334Pro)
c.851T>C (p.Leu284Pro)
c.644T>C (p.Leu215Pro)
c.431T>C (p.Leu144Pro)
n.669T>C
Xg.154562841T>GCA415216108IKBKGc.764T>G (p.Leu255Arg)
c.800T>G (p.Leu267Arg)
c.398T>G (p.Leu133Arg)
c.*181T>G (n.*181T>G)
n.2197T>G
c.647T>G (p.Leu216Arg)
c.857T>G (p.Leu286Arg)
n.2200T>G
c.616-718T>G (n.616-718T>G)
c.*792T>G (n.*792T>G)
c.776T>G (p.Leu259Arg)
c.797T>G (p.Leu266Arg)
n.231T>G
c.1004T>G (p.Leu335Arg)
c.779T>G (p.Leu260Arg)
c.1001T>G (p.Leu334Arg)
c.851T>G (p.Leu284Arg)
c.644T>G (p.Leu215Arg)
c.431T>G (p.Leu144Arg)
n.669T>G
Xg.154562842C>ACA519286395IKBKGc.765C>A (p.Leu255=)
c.801C>A (p.Leu267=)
c.399C>A (p.Leu133=)
c.*182C>A (n.*182C>A)
n.2198C>A
c.648C>A (p.Leu216=)
c.858C>A (p.Leu286=)
n.2201C>A
c.616-717C>A (n.616-717C>A)
c.*793C>A (n.*793C>A)
c.777C>A (p.Leu259=)
c.798C>A (p.Leu266=)
n.232C>A
c.1005C>A (p.Leu335=)
c.780C>A (p.Leu260=)
c.1002C>A (p.Leu334=)
c.852C>A (p.Leu284=)
c.645C>A (p.Leu215=)
c.432C>A (p.Leu144=)
n.670C>A
dbSNP
Xg.154562842C=CA2466734017IKBKGc.765C= (p.Leu255=)
c.801C= (p.Leu267=)
c.399C= (p.Leu133=)
c.*182C= (n.*182C=)
n.2198C=
c.648C= (p.Leu216=)
c.858C= (p.Leu286=)
n.2201C=
c.616-717C= (n.616-717C=)
c.*793C= (n.*793C=)
c.777C= (p.Leu259=)
c.798C= (p.Leu266=)
n.232C=
c.1005C= (p.Leu335=)
c.780C= (p.Leu260=)
c.1002C= (p.Leu334=)
c.852C= (p.Leu284=)
c.645C= (p.Leu215=)
c.432C= (p.Leu144=)
n.670C=
Xg.154562842C>GCA519286398IKBKGc.765C>G (p.Leu255=)
c.801C>G (p.Leu267=)
c.399C>G (p.Leu133=)
c.*182C>G (n.*182C>G)
n.2198C>G
c.648C>G (p.Leu216=)
c.858C>G (p.Leu286=)
n.2201C>G
c.616-717C>G (n.616-717C>G)
c.*793C>G (n.*793C>G)
c.777C>G (p.Leu259=)
c.798C>G (p.Leu266=)
n.232C>G
c.1005C>G (p.Leu335=)
c.780C>G (p.Leu260=)
c.1002C>G (p.Leu334=)
c.852C>G (p.Leu284=)
c.645C>G (p.Leu215=)
c.432C>G (p.Leu144=)
n.670C>G
Xg.154562842C>TCA519286396IKBKGc.765C>T (p.Leu255=)
c.801C>T (p.Leu267=)
c.399C>T (p.Leu133=)
c.*182C>T (n.*182C>T)
n.2198C>T
c.648C>T (p.Leu216=)
c.858C>T (p.Leu286=)
n.2201C>T
c.616-717C>T (n.616-717C>T)
c.*793C>T (n.*793C>T)
c.777C>T (p.Leu259=)
c.798C>T (p.Leu266=)
n.232C>T
c.1005C>T (p.Leu335=)
c.780C>T (p.Leu260=)
c.1002C>T (p.Leu334=)
c.852C>T (p.Leu284=)
c.645C>T (p.Leu215=)
c.432C>T (p.Leu144=)
n.670C>T
dbSNP
Xg.154562843C>ACA415216109IKBKGc.766C>A (p.Gln256Lys)
c.802C>A (p.Gln268Lys)
c.400C>A (p.Gln134Lys)
c.*183C>A (n.*183C>A)
n.2199C>A
c.649C>A (p.Gln217Lys)
c.859C>A (p.Gln287Lys)
n.2202C>A
c.616-716C>A (n.616-716C>A)
c.*794C>A (n.*794C>A)
c.778C>A (p.Gln260Lys)
c.799C>A (p.Gln267Lys)
n.233C>A
c.1006C>A (p.Gln336Lys)
c.781C>A (p.Gln261Lys)
c.1003C>A (p.Gln335Lys)
c.853C>A (p.Gln285Lys)
c.646C>A (p.Gln216Lys)
c.433C>A (p.Gln145Lys)
n.671C>A
Xg.154562843C>GCA415216110IKBKGc.766C>G (p.Gln256Glu)
c.802C>G (p.Gln268Glu)
c.400C>G (p.Gln134Glu)
c.*183C>G (n.*183C>G)
n.2199C>G
c.649C>G (p.Gln217Glu)
c.859C>G (p.Gln287Glu)
n.2202C>G
c.616-716C>G (n.616-716C>G)
c.*794C>G (n.*794C>G)
c.778C>G (p.Gln260Glu)
c.799C>G (p.Gln267Glu)
n.233C>G
c.1006C>G (p.Gln336Glu)
c.781C>G (p.Gln261Glu)
c.1003C>G (p.Gln335Glu)
c.853C>G (p.Gln285Glu)
c.646C>G (p.Gln216Glu)
c.433C>G (p.Gln145Glu)
n.671C>G
Xg.154562843C>TCA415216111IKBKGc.766C>T (p.Gln256Ter)
c.802C>T (p.Gln268Ter)
c.400C>T (p.Gln134Ter)
c.*183C>T (n.*183C>T)
n.2199C>T
c.649C>T (p.Gln217Ter)
c.859C>T (p.Gln287Ter)
n.2202C>T
c.616-716C>T (n.616-716C>T)
c.*794C>T (n.*794C>T)
c.778C>T (p.Gln260Ter)
c.799C>T (p.Gln267Ter)
n.233C>T
c.1006C>T (p.Gln336Ter)
c.781C>T (p.Gln261Ter)
c.1003C>T (p.Gln335Ter)
c.853C>T (p.Gln285Ter)
c.646C>T (p.Gln216Ter)
c.433C>T (p.Gln145Ter)
n.671C>T
Xg.154562844A>CCA415216114IKBKGc.767A>C (p.Gln256Pro)
c.803A>C (p.Gln268Pro)
c.401A>C (p.Gln134Pro)
c.*184A>C (n.*184A>C)
n.2200A>C
c.650A>C (p.Gln217Pro)
c.860A>C (p.Gln287Pro)
n.2203A>C
c.616-715A>C (n.616-715A>C)
c.*795A>C (n.*795A>C)
c.779A>C (p.Gln260Pro)
c.800A>C (p.Gln267Pro)
n.234A>C
c.1007A>C (p.Gln336Pro)
c.782A>C (p.Gln261Pro)
c.1004A>C (p.Gln335Pro)
c.854A>C (p.Gln285Pro)
c.647A>C (p.Gln216Pro)
c.434A>C (p.Gln145Pro)
n.672A>C
gnomAD v4
Xg.154562844A>GCA415216112IKBKGc.767A>G (p.Gln256Arg)
c.803A>G (p.Gln268Arg)
c.401A>G (p.Gln134Arg)
c.*184A>G (n.*184A>G)
n.2200A>G
c.650A>G (p.Gln217Arg)
c.860A>G (p.Gln287Arg)
n.2203A>G
c.616-715A>G (n.616-715A>G)
c.*795A>G (n.*795A>G)
c.779A>G (p.Gln260Arg)
c.800A>G (p.Gln267Arg)
n.234A>G
c.1007A>G (p.Gln336Arg)
c.782A>G (p.Gln261Arg)
c.1004A>G (p.Gln335Arg)
c.854A>G (p.Gln285Arg)
c.647A>G (p.Gln216Arg)
c.434A>G (p.Gln145Arg)
n.672A>G
Xg.154562844A>TCA415216113IKBKGc.767A>T (p.Gln256Leu)
c.803A>T (p.Gln268Leu)
c.401A>T (p.Gln134Leu)
c.*184A>T (n.*184A>T)
n.2200A>T
c.650A>T (p.Gln217Leu)
c.860A>T (p.Gln287Leu)
n.2203A>T
c.616-715A>T (n.616-715A>T)
c.*795A>T (n.*795A>T)
c.779A>T (p.Gln260Leu)
c.800A>T (p.Gln267Leu)
n.234A>T
c.1007A>T (p.Gln336Leu)
c.782A>T (p.Gln261Leu)
c.1004A>T (p.Gln335Leu)
c.854A>T (p.Gln285Leu)
c.647A>T (p.Gln216Leu)
c.434A>T (p.Gln145Leu)
n.672A>T
Xg.154562845G>ACA519286402IKBKGc.768G>A (p.Gln256=)
c.804G>A (p.Gln268=)
c.402G>A (p.Gln134=)
c.*185G>A (n.*185G>A)
n.2201G>A
c.651G>A (p.Gln217=)
c.861G>A (p.Gln287=)
n.2204G>A
c.616-714G>A (n.616-714G>A)
c.*796G>A (n.*796G>A)
c.780G>A (p.Gln260=)
c.801G>A (p.Gln267=)
n.235G>A
c.1008G>A (p.Gln336=)
c.783G>A (p.Gln261=)
c.1005G>A (p.Gln335=)
c.855G>A (p.Gln285=)
c.648G>A (p.Gln216=)
c.435G>A (p.Gln145=)
n.673G>A
Xg.154562845G>CCA415216115IKBKGc.768G>C (p.Gln256His)
c.804G>C (p.Gln268His)
c.402G>C (p.Gln134His)
c.*185G>C (n.*185G>C)
n.2201G>C
c.651G>C (p.Gln217His)
c.861G>C (p.Gln287His)
n.2204G>C
c.616-714G>C (n.616-714G>C)
c.*796G>C (n.*796G>C)
c.780G>C (p.Gln260His)
c.801G>C (p.Gln267His)
n.235G>C
c.1008G>C (p.Gln336His)
c.783G>C (p.Gln261His)
c.1005G>C (p.Gln335His)
c.855G>C (p.Gln285His)
c.648G>C (p.Gln216His)
c.435G>C (p.Gln145His)
n.673G>C
Xg.154562845G>TCA415216116IKBKGc.768G>T (p.Gln256His)
c.804G>T (p.Gln268His)
c.402G>T (p.Gln134His)
c.*185G>T (n.*185G>T)
n.2201G>T
c.651G>T (p.Gln217His)
c.861G>T (p.Gln287His)
n.2204G>T
c.616-714G>T (n.616-714G>T)
c.*796G>T (n.*796G>T)
c.780G>T (p.Gln260His)
c.801G>T (p.Gln267His)
n.235G>T
c.1008G>T (p.Gln336His)
c.783G>T (p.Gln261His)
c.1005G>T (p.Gln335His)
c.855G>T (p.Gln285His)
c.648G>T (p.Gln216His)
c.435G>T (p.Gln145His)
n.673G>T
Xg.154562846C>ACA415216117IKBKGc.769C>A (p.Gln257Lys)
c.805C>A (p.Gln269Lys)
c.403C>A (p.Gln135Lys)
c.*186C>A (n.*186C>A)
n.2202C>A
c.652C>A (p.Gln218Lys)
c.862C>A (p.Gln288Lys)
n.2205C>A
c.616-713C>A (n.616-713C>A)
c.*797C>A (n.*797C>A)
c.781C>A (p.Gln261Lys)
c.802C>A (p.Gln268Lys)
n.236C>A
c.1009C>A (p.Gln337Lys)
c.784C>A (p.Gln262Lys)
c.1006C>A (p.Gln336Lys)
c.856C>A (p.Gln286Lys)
c.649C>A (p.Gln217Lys)
c.436C>A (p.Gln146Lys)
n.674C>A
Xg.154562846C>GCA415216118IKBKGc.769C>G (p.Gln257Glu)
c.805C>G (p.Gln269Glu)
c.403C>G (p.Gln135Glu)
c.*186C>G (n.*186C>G)
n.2202C>G
c.652C>G (p.Gln218Glu)
c.862C>G (p.Gln288Glu)
n.2205C>G
c.616-713C>G (n.616-713C>G)
c.*797C>G (n.*797C>G)
c.781C>G (p.Gln261Glu)
c.802C>G (p.Gln268Glu)
n.236C>G
c.1009C>G (p.Gln337Glu)
c.784C>G (p.Gln262Glu)
c.1006C>G (p.Gln336Glu)
c.856C>G (p.Gln286Glu)
c.649C>G (p.Gln217Glu)
c.436C>G (p.Gln146Glu)
n.674C>G
Xg.154562846C>TCA415216120IKBKGc.769C>T (p.Gln257Ter)
c.805C>T (p.Gln269Ter)
c.403C>T (p.Gln135Ter)
c.*186C>T (n.*186C>T)
n.2202C>T
c.652C>T (p.Gln218Ter)
c.862C>T (p.Gln288Ter)
n.2205C>T
c.616-713C>T (n.616-713C>T)
c.*797C>T (n.*797C>T)
c.781C>T (p.Gln261Ter)
c.802C>T (p.Gln268Ter)
n.236C>T
c.1009C>T (p.Gln337Ter)
c.784C>T (p.Gln262Ter)
c.1006C>T (p.Gln336Ter)
c.856C>T (p.Gln286Ter)
c.649C>T (p.Gln217Ter)
c.436C>T (p.Gln146Ter)
n.674C>T
gnomAD v4
Xg.154562847A>CCA415216122IKBKGc.770A>C (p.Gln257Pro)
c.806A>C (p.Gln269Pro)
c.404A>C (p.Gln135Pro)
c.*187A>C (n.*187A>C)
n.2203A>C
c.653A>C (p.Gln218Pro)
c.863A>C (p.Gln288Pro)
n.2206A>C
c.616-712A>C (n.616-712A>C)
c.*798A>C (n.*798A>C)
c.782A>C (p.Gln261Pro)
c.803A>C (p.Gln268Pro)
n.237A>C
c.1010A>C (p.Gln337Pro)
c.785A>C (p.Gln262Pro)
c.1007A>C (p.Gln336Pro)
c.857A>C (p.Gln286Pro)
c.650A>C (p.Gln217Pro)
c.437A>C (p.Gln146Pro)
n.675A>C
Xg.154562847A>GCA415216124IKBKGc.770A>G (p.Gln257Arg)
c.806A>G (p.Gln269Arg)
c.404A>G (p.Gln135Arg)
c.*187A>G (n.*187A>G)
n.2203A>G
c.653A>G (p.Gln218Arg)
c.863A>G (p.Gln288Arg)
n.2206A>G
c.616-712A>G (n.616-712A>G)
c.*798A>G (n.*798A>G)
c.782A>G (p.Gln261Arg)
c.803A>G (p.Gln268Arg)
n.237A>G
c.1010A>G (p.Gln337Arg)
c.785A>G (p.Gln262Arg)
c.1007A>G (p.Gln336Arg)
c.857A>G (p.Gln286Arg)
c.650A>G (p.Gln217Arg)
c.437A>G (p.Gln146Arg)
n.675A>G
Xg.154562847A>TCA415216125IKBKGc.770A>T (p.Gln257Leu)
c.806A>T (p.Gln269Leu)
c.404A>T (p.Gln135Leu)
c.*187A>T (n.*187A>T)
n.2203A>T
c.653A>T (p.Gln218Leu)
c.863A>T (p.Gln288Leu)
n.2206A>T
c.616-712A>T (n.616-712A>T)
c.*798A>T (n.*798A>T)
c.782A>T (p.Gln261Leu)
c.803A>T (p.Gln268Leu)
n.237A>T
c.1010A>T (p.Gln337Leu)
c.785A>T (p.Gln262Leu)
c.1007A>T (p.Gln336Leu)
c.857A>T (p.Gln286Leu)
c.650A>T (p.Gln217Leu)
c.437A>T (p.Gln146Leu)
n.675A>T
Xg.154562847_154562865delinsAGGCCGAGGAGGCCCTGGTCA2466734021IKBKGc.770_788delinsAGGCCGAGGAGGCCCTGGT (p.Gln257=)
c.806_824delinsAGGCCGAGGAGGCCCTGGT (p.Gln269=)
c.404_422delinsAGGCCGAGGAGGCCCTGGT (p.Gln135=)
c.*187_*205delinsAGGCCGAGGAGGCCCTGGT (n.*187_*205delinsAGGCCGAGGAGGCCCTGGT)
n.2203_2221delinsAGGCCGAGGAGGCCCTGGT
c.653_671delinsAGGCCGAGGAGGCCCTGGT (p.Gln218=)
c.863_881delinsAGGCCGAGGAGGCCCTGGT (p.Gln288=)
n.2206_2224delinsAGGCCGAGGAGGCCCTGGT
c.616-712_616-694delinsAGGCCGAGGAGGCCCTGGT (n.616-712_616-694delinsAGGCCGAGGAGGCCCTGGT)
c.*798_*816delinsAGGCCGAGGAGGCCCTGGT (n.*798_*816delinsAGGCCGAGGAGGCCCTGGT)
c.782_800delinsAGGCCGAGGAGGCCCTGGT (p.Gln261=)
c.803_821delinsAGGCCGAGGAGGCCCTGGT (p.Gln268=)
n.237_255delinsAGGCCGAGGAGGCCCTGGT
c.1010_1028delinsAGGCCGAGGAGGCCCTGGT (p.Gln337=)
c.785_803delinsAGGCCGAGGAGGCCCTGGT (p.Gln262=)
c.1007_1025delinsAGGCCGAGGAGGCCCTGGT (p.Gln336=)
c.857_875delinsAGGCCGAGGAGGCCCTGGT (p.Gln286=)
c.650_668delinsAGGCCGAGGAGGCCCTGGT (p.Gln217=)
c.437_455delinsAGGCCGAGGAGGCCCTGGT (p.Gln146=)
n.675_693delinsAGGCCGAGGAGGCCCTGGT
Xg.154562848G>ACA519286408IKBKGc.771G>A (p.Gln257=)
c.807G>A (p.Gln269=)
c.405G>A (p.Gln135=)
c.*188G>A (n.*188G>A)
n.2204G>A
c.654G>A (p.Gln218=)
c.864G>A (p.Gln288=)
n.2207G>A
c.616-711G>A (n.616-711G>A)
c.*799G>A (n.*799G>A)
c.783G>A (p.Gln261=)
c.804G>A (p.Gln268=)
n.238G>A
c.1011G>A (p.Gln337=)
c.786G>A (p.Gln262=)
c.1008G>A (p.Gln336=)
c.858G>A (p.Gln286=)
c.651G>A (p.Gln217=)
c.438G>A (p.Gln146=)
n.676G>A
Xg.154562848G>CCA415216127IKBKGc.771G>C (p.Gln257His)
c.807G>C (p.Gln269His)
c.405G>C (p.Gln135His)
c.*188G>C (n.*188G>C)
n.2204G>C
c.654G>C (p.Gln218His)
c.864G>C (p.Gln288His)
n.2207G>C
c.616-711G>C (n.616-711G>C)
c.*799G>C (n.*799G>C)
c.783G>C (p.Gln261His)
c.804G>C (p.Gln268His)
n.238G>C
c.1011G>C (p.Gln337His)
c.786G>C (p.Gln262His)
c.1008G>C (p.Gln336His)
c.858G>C (p.Gln286His)
c.651G>C (p.Gln217His)
c.438G>C (p.Gln146His)
n.676G>C
Xg.154562848G>TCA415216129IKBKGc.771G>T (p.Gln257His)
c.807G>T (p.Gln269His)
c.405G>T (p.Gln135His)
c.*188G>T (n.*188G>T)
n.2204G>T
c.654G>T (p.Gln218His)
c.864G>T (p.Gln288His)
n.2207G>T
c.616-711G>T (n.616-711G>T)
c.*799G>T (n.*799G>T)
c.783G>T (p.Gln261His)
c.804G>T (p.Gln268His)
n.238G>T
c.1011G>T (p.Gln337His)
c.786G>T (p.Gln262His)
c.1008G>T (p.Gln336His)
c.858G>T (p.Gln286His)
c.651G>T (p.Gln217His)
c.438G>T (p.Gln146His)
n.676G>T
Xg.154562852_154562869delCA1139667924IKBKGc.775_792del (p.Glu259_Ala264del)
c.811_828del (p.Glu271_Ala276del)
c.409_426del (p.Glu137_Ala142del)
c.*192_*209del (n.*192_*209del)
n.2208_2225del
c.658_675del (p.Glu220_Ala225del)
c.868_885del (p.Glu290_Ala295del)
n.2211_2228del
c.616-707_616-690del (n.616-707_616-690del)
c.*803_*820del (n.*803_*820del)
c.787_804del (p.Glu263_Ala268del)
c.808_825del (p.Glu270_Ala275del)
n.242_259del
c.1015_1032del (p.Glu339_Ala344del)
c.790_807del (p.Glu264_Ala269del)
c.1012_1029del (p.Glu338_Ala343del)
c.862_879del (p.Glu288_Ala293del)
c.655_672del (p.Glu219_Ala224del)
c.442_459del (p.Glu148_Ala153del)
n.680_697del
ClinVar dbSNP
Xg.154562849G>ACA415216130IKBKGc.772G>A (p.Ala258Thr)
c.808G>A (p.Ala270Thr)
c.406G>A (p.Ala136Thr)
c.*189G>A (n.*189G>A)
n.2205G>A
c.655G>A (p.Ala219Thr)
c.865G>A (p.Ala289Thr)
n.2208G>A
c.616-710G>A (n.616-710G>A)
c.*800G>A (n.*800G>A)
c.784G>A (p.Ala262Thr)
c.805G>A (p.Ala269Thr)
n.239G>A
c.1012G>A (p.Ala338Thr)
c.787G>A (p.Ala263Thr)
c.1009G>A (p.Ala337Thr)
c.859G>A (p.Ala287Thr)
c.652G>A (p.Ala218Thr)
c.439G>A (p.Ala147Thr)
n.677G>A
gnomAD v4
Xg.154562849G>CCA415216131IKBKGc.772G>C (p.Ala258Pro)
c.808G>C (p.Ala270Pro)
c.406G>C (p.Ala136Pro)
c.*189G>C (n.*189G>C)
n.2205G>C
c.655G>C (p.Ala219Pro)
c.865G>C (p.Ala289Pro)
n.2208G>C
c.616-710G>C (n.616-710G>C)
c.*800G>C (n.*800G>C)
c.784G>C (p.Ala262Pro)
c.805G>C (p.Ala269Pro)
n.239G>C
c.1012G>C (p.Ala338Pro)
c.787G>C (p.Ala263Pro)
c.1009G>C (p.Ala337Pro)
c.859G>C (p.Ala287Pro)
c.652G>C (p.Ala218Pro)
c.439G>C (p.Ala147Pro)
n.677G>C
Xg.154562849G>TCA415216133IKBKGc.772G>T (p.Ala258Ser)
c.808G>T (p.Ala270Ser)
c.406G>T (p.Ala136Ser)
c.*189G>T (n.*189G>T)
n.2205G>T
c.655G>T (p.Ala219Ser)
c.865G>T (p.Ala289Ser)
n.2208G>T
c.616-710G>T (n.616-710G>T)
c.*800G>T (n.*800G>T)
c.784G>T (p.Ala262Ser)
c.805G>T (p.Ala269Ser)
n.239G>T
c.1012G>T (p.Ala338Ser)
c.787G>T (p.Ala263Ser)
c.1009G>T (p.Ala337Ser)
c.859G>T (p.Ala287Ser)
c.652G>T (p.Ala218Ser)
c.439G>T (p.Ala147Ser)
n.677G>T
Xg.154562850C>ACA415216139IKBKGc.773C>A (p.Ala258Asp)
c.809C>A (p.Ala270Asp)
c.407C>A (p.Ala136Asp)
c.*190C>A (n.*190C>A)
n.2206C>A
c.656C>A (p.Ala219Asp)
c.866C>A (p.Ala289Asp)
n.2209C>A
c.616-709C>A (n.616-709C>A)
c.*801C>A (n.*801C>A)
c.785C>A (p.Ala262Asp)
c.806C>A (p.Ala269Asp)
n.240C>A
c.1013C>A (p.Ala338Asp)
c.788C>A (p.Ala263Asp)
c.1010C>A (p.Ala337Asp)
c.860C>A (p.Ala287Asp)
c.653C>A (p.Ala218Asp)
c.440C>A (p.Ala147Asp)
n.678C>A
Xg.154562850C>GCA415216135IKBKGc.773C>G (p.Ala258Gly)
c.809C>G (p.Ala270Gly)
c.407C>G (p.Ala136Gly)
c.*190C>G (n.*190C>G)
n.2206C>G
c.656C>G (p.Ala219Gly)
c.866C>G (p.Ala289Gly)
n.2209C>G
c.616-709C>G (n.616-709C>G)
c.*801C>G (n.*801C>G)
c.785C>G (p.Ala262Gly)
c.806C>G (p.Ala269Gly)
n.240C>G
c.1013C>G (p.Ala338Gly)
c.788C>G (p.Ala263Gly)
c.1010C>G (p.Ala337Gly)
c.860C>G (p.Ala287Gly)
c.653C>G (p.Ala218Gly)
c.440C>G (p.Ala147Gly)
n.678C>G
gnomAD v4
Xg.154562850C>TCA415216137IKBKGc.773C>T (p.Ala258Val)
c.809C>T (p.Ala270Val)
c.407C>T (p.Ala136Val)
c.*190C>T (n.*190C>T)
n.2206C>T
c.656C>T (p.Ala219Val)
c.866C>T (p.Ala289Val)
n.2209C>T
c.616-709C>T (n.616-709C>T)
c.*801C>T (n.*801C>T)
c.785C>T (p.Ala262Val)
c.806C>T (p.Ala269Val)
n.240C>T
c.1013C>T (p.Ala338Val)
c.788C>T (p.Ala263Val)
c.1010C>T (p.Ala337Val)
c.860C>T (p.Ala287Val)
c.653C>T (p.Ala218Val)
c.440C>T (p.Ala147Val)
n.678C>T
Xg.154562851C>ACA519286417IKBKGc.774C>A (p.Ala258=)
c.810C>A (p.Ala270=)
c.408C>A (p.Ala136=)
c.*191C>A (n.*191C>A)
n.2207C>A
c.657C>A (p.Ala219=)
c.867C>A (p.Ala289=)
n.2210C>A
c.616-708C>A (n.616-708C>A)
c.*802C>A (n.*802C>A)
c.786C>A (p.Ala262=)
c.807C>A (p.Ala269=)
n.241C>A
c.1014C>A (p.Ala338=)
c.789C>A (p.Ala263=)
c.1011C>A (p.Ala337=)
c.861C>A (p.Ala287=)
c.654C>A (p.Ala218=)
c.441C>A (p.Ala147=)
n.679C>A
Xg.154562851C=CA2466734026IKBKGc.774C= (p.Ala258=)
c.810C= (p.Ala270=)
c.408C= (p.Ala136=)
c.*191C= (n.*191C=)
n.2207C=
c.657C= (p.Ala219=)
c.867C= (p.Ala289=)
n.2210C=
c.616-708C= (n.616-708C=)
c.*802C= (n.*802C=)
c.786C= (p.Ala262=)
c.807C= (p.Ala269=)
n.241C=
c.1014C= (p.Ala338=)
c.789C= (p.Ala263=)
c.1011C= (p.Ala337=)
c.861C= (p.Ala287=)
c.654C= (p.Ala218=)
c.441C= (p.Ala147=)
n.679C=
Xg.154562851C>GCA519286416IKBKGc.774C>G (p.Ala258=)
c.810C>G (p.Ala270=)
c.408C>G (p.Ala136=)
c.*191C>G (n.*191C>G)
n.2207C>G
c.657C>G (p.Ala219=)
c.867C>G (p.Ala289=)
n.2210C>G
c.616-708C>G (n.616-708C>G)
c.*802C>G (n.*802C>G)
c.786C>G (p.Ala262=)
c.807C>G (p.Ala269=)
n.241C>G
c.1014C>G (p.Ala338=)
c.789C>G (p.Ala263=)
c.1011C>G (p.Ala337=)
c.861C>G (p.Ala287=)
c.654C>G (p.Ala218=)
c.441C>G (p.Ala147=)
n.679C>G
Xg.154562851C>TCA519286415IKBKGc.774C>T (p.Ala258=)
c.810C>T (p.Ala270=)
c.408C>T (p.Ala136=)
c.*191C>T (n.*191C>T)
n.2207C>T
c.657C>T (p.Ala219=)
c.867C>T (p.Ala289=)
n.2210C>T
c.616-708C>T (n.616-708C>T)
c.*802C>T (n.*802C>T)
c.786C>T (p.Ala262=)
c.807C>T (p.Ala269=)
n.241C>T
c.1014C>T (p.Ala338=)
c.789C>T (p.Ala263=)
c.1011C>T (p.Ala337=)
c.861C>T (p.Ala287=)
c.654C>T (p.Ala218=)
c.441C>T (p.Ala147=)
n.679C>T
dbSNP gnomAD v4
Xg.154562852G>ACA415216142IKBKGc.775G>A (p.Glu259Lys)
c.811G>A (p.Glu271Lys)
c.409G>A (p.Glu137Lys)
c.*192G>A (n.*192G>A)
n.2208G>A
c.658G>A (p.Glu220Lys)
c.868G>A (p.Glu290Lys)
n.2211G>A
c.616-707G>A (n.616-707G>A)
c.*803G>A (n.*803G>A)
c.787G>A (p.Glu263Lys)
c.808G>A (p.Glu270Lys)
n.242G>A
c.1015G>A (p.Glu339Lys)
c.790G>A (p.Glu264Lys)
c.1012G>A (p.Glu338Lys)
c.862G>A (p.Glu288Lys)
c.655G>A (p.Glu219Lys)
c.442G>A (p.Glu148Lys)
n.680G>A
dbSNP gnomAD v4
Xg.154562852G>CCA415216144IKBKGc.775G>C (p.Glu259Gln)
c.811G>C (p.Glu271Gln)
c.409G>C (p.Glu137Gln)
c.*192G>C (n.*192G>C)
n.2208G>C
c.658G>C (p.Glu220Gln)
c.868G>C (p.Glu290Gln)
n.2211G>C
c.616-707G>C (n.616-707G>C)
c.*803G>C (n.*803G>C)
c.787G>C (p.Glu263Gln)
c.808G>C (p.Glu270Gln)
n.242G>C
c.1015G>C (p.Glu339Gln)
c.790G>C (p.Glu264Gln)
c.1012G>C (p.Glu338Gln)
c.862G>C (p.Glu288Gln)
c.655G>C (p.Glu219Gln)
c.442G>C (p.Glu148Gln)
n.680G>C
gnomAD v4
Xg.154562852G>TCA415216146IKBKGc.775G>T (p.Glu259Ter)
c.811G>T (p.Glu271Ter)
c.409G>T (p.Glu137Ter)
c.*192G>T (n.*192G>T)
n.2208G>T
c.658G>T (p.Glu220Ter)
c.868G>T (p.Glu290Ter)
n.2211G>T
c.616-707G>T (n.616-707G>T)
c.*803G>T (n.*803G>T)
c.787G>T (p.Glu263Ter)
c.808G>T (p.Glu270Ter)
n.242G>T
c.1015G>T (p.Glu339Ter)
c.790G>T (p.Glu264Ter)
c.1012G>T (p.Glu338Ter)
c.862G>T (p.Glu288Ter)
c.655G>T (p.Glu219Ter)
c.442G>T (p.Glu148Ter)
n.680G>T
Xg.154562853A>CCA415216148IKBKGc.776A>C (p.Glu259Ala)
c.812A>C (p.Glu271Ala)
c.410A>C (p.Glu137Ala)
c.*193A>C (n.*193A>C)
n.2209A>C
c.659A>C (p.Glu220Ala)
c.869A>C (p.Glu290Ala)
n.2212A>C
c.616-706A>C (n.616-706A>C)
c.*804A>C (n.*804A>C)
c.788A>C (p.Glu263Ala)
c.809A>C (p.Glu270Ala)
n.243A>C
c.1016A>C (p.Glu339Ala)
c.791A>C (p.Glu264Ala)
c.1013A>C (p.Glu338Ala)
c.863A>C (p.Glu288Ala)
c.656A>C (p.Glu219Ala)
c.443A>C (p.Glu148Ala)
n.681A>C
Xg.154562853A>GCA415216149IKBKGc.776A>G (p.Glu259Gly)
c.812A>G (p.Glu271Gly)
c.410A>G (p.Glu137Gly)
c.*193A>G (n.*193A>G)
n.2209A>G
c.659A>G (p.Glu220Gly)
c.869A>G (p.Glu290Gly)
n.2212A>G
c.616-706A>G (n.616-706A>G)
c.*804A>G (n.*804A>G)
c.788A>G (p.Glu263Gly)
c.809A>G (p.Glu270Gly)
n.243A>G
c.1016A>G (p.Glu339Gly)
c.791A>G (p.Glu264Gly)
c.1013A>G (p.Glu338Gly)
c.863A>G (p.Glu288Gly)
c.656A>G (p.Glu219Gly)
c.443A>G (p.Glu148Gly)
n.681A>G
Xg.154562853A>TCA415216151IKBKGc.776A>T (p.Glu259Val)
c.812A>T (p.Glu271Val)
c.410A>T (p.Glu137Val)
c.*193A>T (n.*193A>T)
n.2209A>T
c.659A>T (p.Glu220Val)
c.869A>T (p.Glu290Val)
n.2212A>T
c.616-706A>T (n.616-706A>T)
c.*804A>T (n.*804A>T)
c.788A>T (p.Glu263Val)
c.809A>T (p.Glu270Val)
n.243A>T
c.1016A>T (p.Glu339Val)
c.791A>T (p.Glu264Val)
c.1013A>T (p.Glu338Val)
c.863A>T (p.Glu288Val)
c.656A>T (p.Glu219Val)
c.443A>T (p.Glu148Val)
n.681A>T
Xg.154562854G>ACA519286421IKBKGc.777G>A (p.Glu259=)
c.813G>A (p.Glu271=)
c.411G>A (p.Glu137=)
c.*194G>A (n.*194G>A)
n.2210G>A
c.660G>A (p.Glu220=)
c.870G>A (p.Glu290=)
n.2213G>A
c.616-705G>A (n.616-705G>A)
c.*805G>A (n.*805G>A)
c.789G>A (p.Glu263=)
c.810G>A (p.Glu270=)
n.244G>A
c.1017G>A (p.Glu339=)
c.792G>A (p.Glu264=)
c.1014G>A (p.Glu338=)
c.864G>A (p.Glu288=)
c.657G>A (p.Glu219=)
c.444G>A (p.Glu148=)
n.682G>A
Xg.154562854G>CCA415216153IKBKGc.777G>C (p.Glu259Asp)
c.813G>C (p.Glu271Asp)
c.411G>C (p.Glu137Asp)
c.*194G>C (n.*194G>C)
n.2210G>C
c.660G>C (p.Glu220Asp)
c.870G>C (p.Glu290Asp)
n.2213G>C
c.616-705G>C (n.616-705G>C)
c.*805G>C (n.*805G>C)
c.789G>C (p.Glu263Asp)
c.810G>C (p.Glu270Asp)
n.244G>C
c.1017G>C (p.Glu339Asp)
c.792G>C (p.Glu264Asp)
c.1014G>C (p.Glu338Asp)
c.864G>C (p.Glu288Asp)
c.657G>C (p.Glu219Asp)
c.444G>C (p.Glu148Asp)
n.682G>C
Xg.154562854G>TCA415216155IKBKGc.777G>T (p.Glu259Asp)
c.813G>T (p.Glu271Asp)
c.411G>T (p.Glu137Asp)
c.*194G>T (n.*194G>T)
n.2210G>T
c.660G>T (p.Glu220Asp)
c.870G>T (p.Glu290Asp)
n.2213G>T
c.616-705G>T (n.616-705G>T)
c.*805G>T (n.*805G>T)
c.789G>T (p.Glu263Asp)
c.810G>T (p.Glu270Asp)
n.244G>T
c.1017G>T (p.Glu339Asp)
c.792G>T (p.Glu264Asp)
c.1014G>T (p.Glu338Asp)
c.864G>T (p.Glu288Asp)
c.657G>T (p.Glu219Asp)
c.444G>T (p.Glu148Asp)
n.682G>T
Xg.154562855G>ACA415216156IKBKGc.778G>A (p.Glu260Lys)
c.814G>A (p.Glu272Lys)
c.412G>A (p.Glu138Lys)
c.*195G>A (n.*195G>A)
n.2211G>A
c.661G>A (p.Glu221Lys)
c.871G>A (p.Glu291Lys)
n.2214G>A
c.616-704G>A (n.616-704G>A)
c.*806G>A (n.*806G>A)
c.790G>A (p.Glu264Lys)
c.811G>A (p.Glu271Lys)
n.245G>A
c.1018G>A (p.Glu340Lys)
c.793G>A (p.Glu265Lys)
c.1015G>A (p.Glu339Lys)
c.865G>A (p.Glu289Lys)
c.658G>A (p.Glu220Lys)
c.445G>A (p.Glu149Lys)
n.683G>A
Xg.154562855G>CCA415216157IKBKGc.778G>C (p.Glu260Gln)
c.814G>C (p.Glu272Gln)
c.412G>C (p.Glu138Gln)
c.*195G>C (n.*195G>C)
n.2211G>C
c.661G>C (p.Glu221Gln)
c.871G>C (p.Glu291Gln)
n.2214G>C
c.616-704G>C (n.616-704G>C)
c.*806G>C (n.*806G>C)
c.790G>C (p.Glu264Gln)
c.811G>C (p.Glu271Gln)
n.245G>C
c.1018G>C (p.Glu340Gln)
c.793G>C (p.Glu265Gln)
c.1015G>C (p.Glu339Gln)
c.865G>C (p.Glu289Gln)
c.658G>C (p.Glu220Gln)
c.445G>C (p.Glu149Gln)
n.683G>C
Xg.154562855G>TCA415216159IKBKGc.778G>T (p.Glu260Ter)
c.814G>T (p.Glu272Ter)
c.412G>T (p.Glu138Ter)
c.*195G>T (n.*195G>T)
n.2211G>T
c.661G>T (p.Glu221Ter)
c.871G>T (p.Glu291Ter)
n.2214G>T
c.616-704G>T (n.616-704G>T)
c.*806G>T (n.*806G>T)
c.790G>T (p.Glu264Ter)
c.811G>T (p.Glu271Ter)
n.245G>T
c.1018G>T (p.Glu340Ter)
c.793G>T (p.Glu265Ter)
c.1015G>T (p.Glu339Ter)
c.865G>T (p.Glu289Ter)
c.658G>T (p.Glu220Ter)
c.445G>T (p.Glu149Ter)
n.683G>T
Xg.154562856A>CCA415216166IKBKGc.779A>C (p.Glu260Ala)
c.815A>C (p.Glu272Ala)
c.413A>C (p.Glu138Ala)
c.*196A>C (n.*196A>C)
n.2212A>C
c.662A>C (p.Glu221Ala)
c.872A>C (p.Glu291Ala)
n.2215A>C
c.616-703A>C (n.616-703A>C)
c.*807A>C (n.*807A>C)
c.791A>C (p.Glu264Ala)
c.812A>C (p.Glu271Ala)
n.246A>C
c.1019A>C (p.Glu340Ala)
c.794A>C (p.Glu265Ala)
c.1016A>C (p.Glu339Ala)
c.866A>C (p.Glu289Ala)
c.659A>C (p.Glu220Ala)
c.446A>C (p.Glu149Ala)
n.684A>C
Xg.154562856A>GCA415216169IKBKGc.779A>G (p.Glu260Gly)
c.815A>G (p.Glu272Gly)
c.413A>G (p.Glu138Gly)
c.*196A>G (n.*196A>G)
n.2212A>G
c.662A>G (p.Glu221Gly)
c.872A>G (p.Glu291Gly)
n.2215A>G
c.616-703A>G (n.616-703A>G)
c.*807A>G (n.*807A>G)
c.791A>G (p.Glu264Gly)
c.812A>G (p.Glu271Gly)
n.246A>G
c.1019A>G (p.Glu340Gly)
c.794A>G (p.Glu265Gly)
c.1016A>G (p.Glu339Gly)
c.866A>G (p.Glu289Gly)
c.659A>G (p.Glu220Gly)
c.446A>G (p.Glu149Gly)
n.684A>G
Xg.154562856A>TCA415216168IKBKGc.779A>T (p.Glu260Val)
c.815A>T (p.Glu272Val)
c.413A>T (p.Glu138Val)
c.*196A>T (n.*196A>T)
n.2212A>T
c.662A>T (p.Glu221Val)
c.872A>T (p.Glu291Val)
n.2215A>T
c.616-703A>T (n.616-703A>T)
c.*807A>T (n.*807A>T)
c.791A>T (p.Glu264Val)
c.812A>T (p.Glu271Val)
n.246A>T
c.1019A>T (p.Glu340Val)
c.794A>T (p.Glu265Val)
c.1016A>T (p.Glu339Val)
c.866A>T (p.Glu289Val)
c.659A>T (p.Glu220Val)
c.446A>T (p.Glu149Val)
n.684A>T
Xg.154562857G>ACA519286426IKBKGc.780G>A (p.Glu260=)
c.816G>A (p.Glu272=)
c.414G>A (p.Glu138=)
c.*197G>A (n.*197G>A)
n.2213G>A
c.663G>A (p.Glu221=)
c.873G>A (p.Glu291=)
n.2216G>A
c.616-702G>A (n.616-702G>A)
c.*808G>A (n.*808G>A)
c.792G>A (p.Glu264=)
c.813G>A (p.Glu271=)
n.247G>A
c.1020G>A (p.Glu340=)
c.795G>A (p.Glu265=)
c.1017G>A (p.Glu339=)
c.867G>A (p.Glu289=)
c.660G>A (p.Glu220=)
c.447G>A (p.Glu149=)
n.685G>A
Xg.154562857G>CCA415216172IKBKGc.780G>C (p.Glu260Asp)
c.816G>C (p.Glu272Asp)
c.414G>C (p.Glu138Asp)
c.*197G>C (n.*197G>C)
n.2213G>C
c.663G>C (p.Glu221Asp)
c.873G>C (p.Glu291Asp)
n.2216G>C
c.616-702G>C (n.616-702G>C)
c.*808G>C (n.*808G>C)
c.792G>C (p.Glu264Asp)
c.813G>C (p.Glu271Asp)
n.247G>C
c.1020G>C (p.Glu340Asp)
c.795G>C (p.Glu265Asp)
c.1017G>C (p.Glu339Asp)
c.867G>C (p.Glu289Asp)
c.660G>C (p.Glu220Asp)
c.447G>C (p.Glu149Asp)
n.685G>C
Xg.154562857G>TCA415216173IKBKGc.780G>T (p.Glu260Asp)
c.816G>T (p.Glu272Asp)
c.414G>T (p.Glu138Asp)
c.*197G>T (n.*197G>T)
n.2213G>T
c.663G>T (p.Glu221Asp)
c.873G>T (p.Glu291Asp)
n.2216G>T
c.616-702G>T (n.616-702G>T)
c.*808G>T (n.*808G>T)
c.792G>T (p.Glu264Asp)
c.813G>T (p.Glu271Asp)
n.247G>T
c.1020G>T (p.Glu340Asp)
c.795G>T (p.Glu265Asp)
c.1017G>T (p.Glu339Asp)
c.867G>T (p.Glu289Asp)
c.660G>T (p.Glu220Asp)
c.447G>T (p.Glu149Asp)
n.685G>T
Xg.154562858G>ACA415216175IKBKGc.781G>A (p.Ala261Thr)
c.817G>A (p.Ala273Thr)
c.415G>A (p.Ala139Thr)
c.*198G>A (n.*198G>A)
n.2214G>A
c.664G>A (p.Ala222Thr)
c.874G>A (p.Ala292Thr)
n.2217G>A
c.616-701G>A (n.616-701G>A)
c.*809G>A (n.*809G>A)
c.793G>A (p.Ala265Thr)
c.814G>A (p.Ala272Thr)
n.248G>A
c.1021G>A (p.Ala341Thr)
c.796G>A (p.Ala266Thr)
c.1018G>A (p.Ala340Thr)
c.868G>A (p.Ala290Thr)
c.661G>A (p.Ala221Thr)
c.448G>A (p.Ala150Thr)
n.686G>A
gnomAD v4
Xg.154562858G>CCA415216178IKBKGc.781G>C (p.Ala261Pro)
c.817G>C (p.Ala273Pro)
c.415G>C (p.Ala139Pro)
c.*198G>C (n.*198G>C)
n.2214G>C
c.664G>C (p.Ala222Pro)
c.874G>C (p.Ala292Pro)
n.2217G>C
c.616-701G>C (n.616-701G>C)
c.*809G>C (n.*809G>C)
c.793G>C (p.Ala265Pro)
c.814G>C (p.Ala272Pro)
n.248G>C
c.1021G>C (p.Ala341Pro)
c.796G>C (p.Ala266Pro)
c.1018G>C (p.Ala340Pro)
c.868G>C (p.Ala290Pro)
c.661G>C (p.Ala221Pro)
c.448G>C (p.Ala150Pro)
n.686G>C
Xg.154562858G>TCA415216180IKBKGc.781G>T (p.Ala261Ser)
c.817G>T (p.Ala273Ser)
c.415G>T (p.Ala139Ser)
c.*198G>T (n.*198G>T)
n.2214G>T
c.664G>T (p.Ala222Ser)
c.874G>T (p.Ala292Ser)
n.2217G>T
c.616-701G>T (n.616-701G>T)
c.*809G>T (n.*809G>T)
c.793G>T (p.Ala265Ser)
c.814G>T (p.Ala272Ser)
n.248G>T
c.1021G>T (p.Ala341Ser)
c.796G>T (p.Ala266Ser)
c.1018G>T (p.Ala340Ser)
c.868G>T (p.Ala290Ser)
c.661G>T (p.Ala221Ser)
c.448G>T (p.Ala150Ser)
n.686G>T
Xg.154562859C>ACA415216182IKBKGc.782C>A (p.Ala261Asp)
c.818C>A (p.Ala273Asp)
c.416C>A (p.Ala139Asp)
c.*199C>A (n.*199C>A)
n.2215C>A
c.665C>A (p.Ala222Asp)
c.875C>A (p.Ala292Asp)
n.2218C>A
c.616-700C>A (n.616-700C>A)
c.*810C>A (n.*810C>A)
c.794C>A (p.Ala265Asp)
c.815C>A (p.Ala272Asp)
n.249C>A
c.1022C>A (p.Ala341Asp)
c.797C>A (p.Ala266Asp)
c.1019C>A (p.Ala340Asp)
c.869C>A (p.Ala290Asp)
c.662C>A (p.Ala221Asp)
c.449C>A (p.Ala150Asp)
n.687C>A
Xg.154562859C>GCA415216184IKBKGc.782C>G (p.Ala261Gly)
c.818C>G (p.Ala273Gly)
c.416C>G (p.Ala139Gly)
c.*199C>G (n.*199C>G)
n.2215C>G
c.665C>G (p.Ala222Gly)
c.875C>G (p.Ala292Gly)
n.2218C>G
c.616-700C>G (n.616-700C>G)
c.*810C>G (n.*810C>G)
c.794C>G (p.Ala265Gly)
c.815C>G (p.Ala272Gly)
n.249C>G
c.1022C>G (p.Ala341Gly)
c.797C>G (p.Ala266Gly)
c.1019C>G (p.Ala340Gly)
c.869C>G (p.Ala290Gly)
c.662C>G (p.Ala221Gly)
c.449C>G (p.Ala150Gly)
n.687C>G
Xg.154562859C>TCA415216186IKBKGc.782C>T (p.Ala261Val)
c.818C>T (p.Ala273Val)
c.416C>T (p.Ala139Val)
c.*199C>T (n.*199C>T)
n.2215C>T
c.665C>T (p.Ala222Val)
c.875C>T (p.Ala292Val)
n.2218C>T
c.616-700C>T (n.616-700C>T)
c.*810C>T (n.*810C>T)
c.794C>T (p.Ala265Val)
c.815C>T (p.Ala272Val)
n.249C>T
c.1022C>T (p.Ala341Val)
c.797C>T (p.Ala266Val)
c.1019C>T (p.Ala340Val)
c.869C>T (p.Ala290Val)
c.662C>T (p.Ala221Val)
c.449C>T (p.Ala150Val)
n.687C>T
Xg.154562860C>ACA519286431IKBKGc.783C>A (p.Ala261=)
c.819C>A (p.Ala273=)
c.417C>A (p.Ala139=)
c.*200C>A (n.*200C>A)
n.2216C>A
c.666C>A (p.Ala222=)
c.876C>A (p.Ala292=)
n.2219C>A
c.616-699C>A (n.616-699C>A)
c.*811C>A (n.*811C>A)
c.795C>A (p.Ala265=)
c.816C>A (p.Ala272=)
n.250C>A
c.1023C>A (p.Ala341=)
c.798C>A (p.Ala266=)
c.1020C>A (p.Ala340=)
c.870C>A (p.Ala290=)
c.663C>A (p.Ala221=)
c.450C>A (p.Ala150=)
n.688C>A
Xg.154562860C>GCA519286432IKBKGc.783C>G (p.Ala261=)
c.819C>G (p.Ala273=)
c.417C>G (p.Ala139=)
c.*200C>G (n.*200C>G)
n.2216C>G
c.666C>G (p.Ala222=)
c.876C>G (p.Ala292=)
n.2219C>G
c.616-699C>G (n.616-699C>G)
c.*811C>G (n.*811C>G)
c.795C>G (p.Ala265=)
c.816C>G (p.Ala272=)
n.250C>G
c.1023C>G (p.Ala341=)
c.798C>G (p.Ala266=)
c.1020C>G (p.Ala340=)
c.870C>G (p.Ala290=)
c.663C>G (p.Ala221=)
c.450C>G (p.Ala150=)
n.688C>G
Xg.154562860C>TCA519286433IKBKGc.783C>T (p.Ala261=)
c.819C>T (p.Ala273=)
c.417C>T (p.Ala139=)
c.*200C>T (n.*200C>T)
n.2216C>T
c.666C>T (p.Ala222=)
c.876C>T (p.Ala292=)
n.2219C>T
c.616-699C>T (n.616-699C>T)
c.*811C>T (n.*811C>T)
c.795C>T (p.Ala265=)
c.816C>T (p.Ala272=)
n.250C>T
c.1023C>T (p.Ala341=)
c.798C>T (p.Ala266=)
c.1020C>T (p.Ala340=)
c.870C>T (p.Ala290=)
c.663C>T (p.Ala221=)
c.450C>T (p.Ala150=)
n.688C>T
Xg.154562861C>ACA415216188IKBKGc.784C>A (p.Leu262Met)
c.820C>A (p.Leu274Met)
c.418C>A (p.Leu140Met)
c.*201C>A (n.*201C>A)
n.2217C>A
c.667C>A (p.Leu223Met)
c.877C>A (p.Leu293Met)
n.2220C>A
c.616-698C>A (n.616-698C>A)
c.*812C>A (n.*812C>A)
c.796C>A (p.Leu266Met)
c.817C>A (p.Leu273Met)
n.251C>A
c.1024C>A (p.Leu342Met)
c.799C>A (p.Leu267Met)
c.1021C>A (p.Leu341Met)
c.871C>A (p.Leu291Met)
c.664C>A (p.Leu222Met)
c.451C>A (p.Leu151Met)
n.689C>A
Xg.154562861C>GCA415216190IKBKGc.784C>G (p.Leu262Val)
c.820C>G (p.Leu274Val)
c.418C>G (p.Leu140Val)
c.*201C>G (n.*201C>G)
n.2217C>G
c.667C>G (p.Leu223Val)
c.877C>G (p.Leu293Val)
n.2220C>G
c.616-698C>G (n.616-698C>G)
c.*812C>G (n.*812C>G)
c.796C>G (p.Leu266Val)
c.817C>G (p.Leu273Val)
n.251C>G
c.1024C>G (p.Leu342Val)
c.799C>G (p.Leu267Val)
c.1021C>G (p.Leu341Val)
c.871C>G (p.Leu291Val)
c.664C>G (p.Leu222Val)
c.451C>G (p.Leu151Val)
n.689C>G
Xg.154562861C>TCA519286435IKBKGc.784C>T (p.Leu262=)
c.820C>T (p.Leu274=)
c.418C>T (p.Leu140=)
c.*201C>T (n.*201C>T)
n.2217C>T
c.667C>T (p.Leu223=)
c.877C>T (p.Leu293=)
n.2220C>T
c.616-698C>T (n.616-698C>T)
c.*812C>T (n.*812C>T)
c.796C>T (p.Leu266=)
c.817C>T (p.Leu273=)
n.251C>T
c.1024C>T (p.Leu342=)
c.799C>T (p.Leu267=)
c.1021C>T (p.Leu341=)
c.871C>T (p.Leu291=)
c.664C>T (p.Leu222=)
c.451C>T (p.Leu151=)
n.689C>T
Xg.154562862T>ACA415216193IKBKGc.785T>A (p.Leu262Gln)
c.821T>A (p.Leu274Gln)
c.419T>A (p.Leu140Gln)
c.*202T>A (n.*202T>A)
n.2218T>A
c.668T>A (p.Leu223Gln)
c.878T>A (p.Leu293Gln)
n.2221T>A
c.616-697T>A (n.616-697T>A)
c.*813T>A (n.*813T>A)
c.797T>A (p.Leu266Gln)
c.818T>A (p.Leu273Gln)
n.252T>A
c.1025T>A (p.Leu342Gln)
c.800T>A (p.Leu267Gln)
c.1022T>A (p.Leu341Gln)
c.872T>A (p.Leu291Gln)
c.665T>A (p.Leu222Gln)
c.452T>A (p.Leu151Gln)
n.690T>A
Xg.154562862T>CCA415216194IKBKGc.785T>C (p.Leu262Pro)
c.821T>C (p.Leu274Pro)
c.419T>C (p.Leu140Pro)
c.*202T>C (n.*202T>C)
n.2218T>C
c.668T>C (p.Leu223Pro)
c.878T>C (p.Leu293Pro)
n.2221T>C
c.616-697T>C (n.616-697T>C)
c.*813T>C (n.*813T>C)
c.797T>C (p.Leu266Pro)
c.818T>C (p.Leu273Pro)
n.252T>C
c.1025T>C (p.Leu342Pro)
c.800T>C (p.Leu267Pro)
c.1022T>C (p.Leu341Pro)
c.872T>C (p.Leu291Pro)
c.665T>C (p.Leu222Pro)
c.452T>C (p.Leu151Pro)
n.690T>C
Xg.154562862T>GCA415216196IKBKGc.785T>G (p.Leu262Arg)
c.821T>G (p.Leu274Arg)
c.419T>G (p.Leu140Arg)
c.*202T>G (n.*202T>G)
n.2218T>G
c.668T>G (p.Leu223Arg)
c.878T>G (p.Leu293Arg)
n.2221T>G
c.616-697T>G (n.616-697T>G)
c.*813T>G (n.*813T>G)
c.797T>G (p.Leu266Arg)
c.818T>G (p.Leu273Arg)
n.252T>G
c.1025T>G (p.Leu342Arg)
c.800T>G (p.Leu267Arg)
c.1022T>G (p.Leu341Arg)
c.872T>G (p.Leu291Arg)
c.665T>G (p.Leu222Arg)
c.452T>G (p.Leu151Arg)
n.690T>G
Xg.154562863G>ACA519286438IKBKGc.786G>A (p.Leu262=)
c.822G>A (p.Leu274=)
c.420G>A (p.Leu140=)
c.*203G>A (n.*203G>A)
n.2219G>A
c.669G>A (p.Leu223=)
c.879G>A (p.Leu293=)
n.2222G>A
c.616-696G>A (n.616-696G>A)
c.*814G>A (n.*814G>A)
c.798G>A (p.Leu266=)
c.819G>A (p.Leu273=)
n.253G>A
c.1026G>A (p.Leu342=)
c.801G>A (p.Leu267=)
c.1023G>A (p.Leu341=)
c.873G>A (p.Leu291=)
c.666G>A (p.Leu222=)
c.453G>A (p.Leu151=)
n.691G>A
Xg.154562863G>CCA519286439IKBKGc.786G>C (p.Leu262=)
c.822G>C (p.Leu274=)
c.420G>C (p.Leu140=)
c.*203G>C (n.*203G>C)
n.2219G>C
c.669G>C (p.Leu223=)
c.879G>C (p.Leu293=)
n.2222G>C
c.616-696G>C (n.616-696G>C)
c.*814G>C (n.*814G>C)
c.798G>C (p.Leu266=)
c.819G>C (p.Leu273=)
n.253G>C
c.1026G>C (p.Leu342=)
c.801G>C (p.Leu267=)
c.1023G>C (p.Leu341=)
c.873G>C (p.Leu291=)
c.666G>C (p.Leu222=)
c.453G>C (p.Leu151=)
n.691G>C
Xg.154562863G>TCA519286440IKBKGc.786G>T (p.Leu262=)
c.822G>T (p.Leu274=)
c.420G>T (p.Leu140=)
c.*203G>T (n.*203G>T)
n.2219G>T
c.669G>T (p.Leu223=)
c.879G>T (p.Leu293=)
n.2222G>T
c.616-696G>T (n.616-696G>T)
c.*814G>T (n.*814G>T)
c.798G>T (p.Leu266=)
c.819G>T (p.Leu273=)
n.253G>T
c.1026G>T (p.Leu342=)
c.801G>T (p.Leu267=)
c.1023G>T (p.Leu341=)
c.873G>T (p.Leu291=)
c.666G>T (p.Leu222=)
c.453G>T (p.Leu151=)
n.691G>T
Xg.154562864G>ACA415216198IKBKGc.787G>A (p.Val263Met)
c.823G>A (p.Val275Met)
c.421G>A (p.Val141Met)
c.*204G>A (n.*204G>A)
n.2220G>A
c.670G>A (p.Val224Met)
c.880G>A (p.Val294Met)
n.2223G>A
c.616-695G>A (n.616-695G>A)
c.*815G>A (n.*815G>A)
c.799G>A (p.Val267Met)
c.820G>A (p.Val274Met)
n.254G>A
c.1027G>A (p.Val343Met)
c.802G>A (p.Val268Met)
c.1024G>A (p.Val342Met)
c.874G>A (p.Val292Met)
c.667G>A (p.Val223Met)
c.454G>A (p.Val152Met)
n.692G>A
Xg.154562864G>CCA415216201IKBKGc.787G>C (p.Val263Leu)
c.823G>C (p.Val275Leu)
c.421G>C (p.Val141Leu)
c.*204G>C (n.*204G>C)
n.2220G>C
c.670G>C (p.Val224Leu)
c.880G>C (p.Val294Leu)
n.2223G>C
c.616-695G>C (n.616-695G>C)
c.*815G>C (n.*815G>C)
c.799G>C (p.Val267Leu)
c.820G>C (p.Val274Leu)
n.254G>C
c.1027G>C (p.Val343Leu)
c.802G>C (p.Val268Leu)
c.1024G>C (p.Val342Leu)
c.874G>C (p.Val292Leu)
c.667G>C (p.Val223Leu)
c.454G>C (p.Val152Leu)
n.692G>C
gnomAD v4
Xg.154562864G>TCA415216200IKBKGc.787G>T (p.Val263Leu)
c.823G>T (p.Val275Leu)
c.421G>T (p.Val141Leu)
c.*204G>T (n.*204G>T)
n.2220G>T
c.670G>T (p.Val224Leu)
c.880G>T (p.Val294Leu)
n.2223G>T
c.616-695G>T (n.616-695G>T)
c.*815G>T (n.*815G>T)
c.799G>T (p.Val267Leu)
c.820G>T (p.Val274Leu)
n.254G>T
c.1027G>T (p.Val343Leu)
c.802G>T (p.Val268Leu)
c.1024G>T (p.Val342Leu)
c.874G>T (p.Val292Leu)
c.667G>T (p.Val223Leu)
c.454G>T (p.Val152Leu)
n.692G>T
Xg.154562865T>ACA415216203IKBKGc.788T>A (p.Val263Glu)
c.824T>A (p.Val275Glu)
c.422T>A (p.Val141Glu)
c.*205T>A (n.*205T>A)
n.2221T>A
c.671T>A (p.Val224Glu)
c.881T>A (p.Val294Glu)
n.2224T>A
c.616-694T>A (n.616-694T>A)
c.*816T>A (n.*816T>A)
c.800T>A (p.Val267Glu)
c.821T>A (p.Val274Glu)
n.255T>A
c.1028T>A (p.Val343Glu)
c.803T>A (p.Val268Glu)
c.1025T>A (p.Val342Glu)
c.875T>A (p.Val292Glu)
c.668T>A (p.Val223Glu)
c.455T>A (p.Val152Glu)
n.693T>A
Xg.154562865T>CCA415216205IKBKGc.788T>C (p.Val263Ala)
c.824T>C (p.Val275Ala)
c.422T>C (p.Val141Ala)
c.*205T>C (n.*205T>C)
n.2221T>C
c.671T>C (p.Val224Ala)
c.881T>C (p.Val294Ala)
n.2224T>C
c.616-694T>C (n.616-694T>C)
c.*816T>C (n.*816T>C)
c.800T>C (p.Val267Ala)
c.821T>C (p.Val274Ala)
n.255T>C
c.1028T>C (p.Val343Ala)
c.803T>C (p.Val268Ala)
c.1025T>C (p.Val342Ala)
c.875T>C (p.Val292Ala)
c.668T>C (p.Val223Ala)
c.455T>C (p.Val152Ala)
n.693T>C
Xg.154562865T>GCA415216209IKBKGc.788T>G (p.Val263Gly)
c.824T>G (p.Val275Gly)
c.422T>G (p.Val141Gly)
c.*205T>G (n.*205T>G)
n.2221T>G
c.671T>G (p.Val224Gly)
c.881T>G (p.Val294Gly)
n.2224T>G
c.616-694T>G (n.616-694T>G)
c.*816T>G (n.*816T>G)
c.800T>G (p.Val267Gly)
c.821T>G (p.Val274Gly)
n.255T>G
c.1028T>G (p.Val343Gly)
c.803T>G (p.Val268Gly)
c.1025T>G (p.Val342Gly)
c.875T>G (p.Val292Gly)
c.668T>G (p.Val223Gly)
c.455T>G (p.Val152Gly)
n.693T>G
Xg.154562866G>ACA519286442IKBKGc.789G>A (p.Val263=)
c.825G>A (p.Val275=)
c.423G>A (p.Val141=)
c.*206G>A (n.*206G>A)
n.2222G>A
c.672G>A (p.Val224=)
c.882G>A (p.Val294=)
n.2225G>A
c.616-693G>A (n.616-693G>A)
c.*817G>A (n.*817G>A)
c.801G>A (p.Val267=)
c.822G>A (p.Val274=)
n.256G>A
c.1029G>A (p.Val343=)
c.804G>A (p.Val268=)
c.1026G>A (p.Val342=)
c.876G>A (p.Val292=)
c.669G>A (p.Val223=)
c.456G>A (p.Val152=)
n.694G>A
Xg.154562866G>CCA519286443IKBKGc.789G>C (p.Val263=)
c.825G>C (p.Val275=)
c.423G>C (p.Val141=)
c.*206G>C (n.*206G>C)
n.2222G>C
c.672G>C (p.Val224=)
c.882G>C (p.Val294=)
n.2225G>C
c.616-693G>C (n.616-693G>C)
c.*817G>C (n.*817G>C)
c.801G>C (p.Val267=)
c.822G>C (p.Val274=)
n.256G>C
c.1029G>C (p.Val343=)
c.804G>C (p.Val268=)
c.1026G>C (p.Val342=)
c.876G>C (p.Val292=)
c.669G>C (p.Val223=)
c.456G>C (p.Val152=)
n.694G>C
Xg.154562866G>TCA519286445IKBKGc.789G>T (p.Val263=)
c.825G>T (p.Val275=)
c.423G>T (p.Val141=)
c.*206G>T (n.*206G>T)
n.2222G>T
c.672G>T (p.Val224=)
c.882G>T (p.Val294=)
n.2225G>T
c.616-693G>T (n.616-693G>T)
c.*817G>T (n.*817G>T)
c.801G>T (p.Val267=)
c.822G>T (p.Val274=)
n.256G>T
c.1029G>T (p.Val343=)
c.804G>T (p.Val268=)
c.1026G>T (p.Val342=)
c.876G>T (p.Val292=)
c.669G>T (p.Val223=)
c.456G>T (p.Val152=)
n.694G>T
Xg.154562867G>ACA415216213IKBKGc.790G>A (p.Ala264Thr)
c.826G>A (p.Ala276Thr)
c.424G>A (p.Ala142Thr)
c.*207G>A (n.*207G>A)
n.2223G>A
c.673G>A (p.Ala225Thr)
c.883G>A (p.Ala295Thr)
n.2226G>A
c.616-692G>A (n.616-692G>A)
c.*818G>A (n.*818G>A)
c.802G>A (p.Ala268Thr)
c.823G>A (p.Ala275Thr)
n.257G>A
c.1030G>A (p.Ala344Thr)
c.805G>A (p.Ala269Thr)
c.1027G>A (p.Ala343Thr)
c.877G>A (p.Ala293Thr)
c.670G>A (p.Ala224Thr)
c.457G>A (p.Ala153Thr)
n.695G>A
gnomAD v4
Xg.154562867G>CCA415216215IKBKGc.790G>C (p.Ala264Pro)
c.826G>C (p.Ala276Pro)
c.424G>C (p.Ala142Pro)
c.*207G>C (n.*207G>C)
n.2223G>C
c.673G>C (p.Ala225Pro)
c.883G>C (p.Ala295Pro)
n.2226G>C
c.616-692G>C (n.616-692G>C)
c.*818G>C (n.*818G>C)
c.802G>C (p.Ala268Pro)
c.823G>C (p.Ala275Pro)
n.257G>C
c.1030G>C (p.Ala344Pro)
c.805G>C (p.Ala269Pro)
c.1027G>C (p.Ala343Pro)
c.877G>C (p.Ala293Pro)
c.670G>C (p.Ala224Pro)
c.457G>C (p.Ala153Pro)
n.695G>C
Xg.154562867G>TCA415216224IKBKGc.790G>T (p.Ala264Ser)
c.826G>T (p.Ala276Ser)
c.424G>T (p.Ala142Ser)
c.*207G>T (n.*207G>T)
n.2223G>T
c.673G>T (p.Ala225Ser)
c.883G>T (p.Ala295Ser)
n.2226G>T
c.616-692G>T (n.616-692G>T)
c.*818G>T (n.*818G>T)
c.802G>T (p.Ala268Ser)
c.823G>T (p.Ala275Ser)
n.257G>T
c.1030G>T (p.Ala344Ser)
c.805G>T (p.Ala269Ser)
c.1027G>T (p.Ala343Ser)
c.877G>T (p.Ala293Ser)
c.670G>T (p.Ala224Ser)
c.457G>T (p.Ala153Ser)
n.695G>T
Xg.154562868C>ACA415216233IKBKGc.791C>A (p.Ala264Asp)
c.827C>A (p.Ala276Asp)
c.425C>A (p.Ala142Asp)
c.*208C>A (n.*208C>A)
n.2224C>A
c.674C>A (p.Ala225Asp)
c.884C>A (p.Ala295Asp)
n.2227C>A
c.616-691C>A (n.616-691C>A)
c.*819C>A (n.*819C>A)
c.803C>A (p.Ala268Asp)
c.824C>A (p.Ala275Asp)
n.258C>A
c.1031C>A (p.Ala344Asp)
c.806C>A (p.Ala269Asp)
c.1028C>A (p.Ala343Asp)
c.878C>A (p.Ala293Asp)
c.671C>A (p.Ala224Asp)
c.458C>A (p.Ala153Asp)
n.696C>A
Xg.154562868C=CA2466734028IKBKGc.791C= (p.Ala264=)
c.827C= (p.Ala276=)
c.425C= (p.Ala142=)
c.*208C= (n.*208C=)
n.2224C=
c.674C= (p.Ala225=)
c.884C= (p.Ala295=)
n.2227C=
c.616-691C= (n.616-691C=)
c.*819C= (n.*819C=)
c.803C= (p.Ala268=)
c.824C= (p.Ala275=)
n.258C=
c.1031C= (p.Ala344=)
c.806C= (p.Ala269=)
c.1028C= (p.Ala343=)
c.878C= (p.Ala293=)
c.671C= (p.Ala224=)
c.458C= (p.Ala153=)
n.696C=
Xg.154562868C>GCA415216242IKBKGc.791C>G (p.Ala264Gly)
c.827C>G (p.Ala276Gly)
c.425C>G (p.Ala142Gly)
c.*208C>G (n.*208C>G)
n.2224C>G
c.674C>G (p.Ala225Gly)
c.884C>G (p.Ala295Gly)
n.2227C>G
c.616-691C>G (n.616-691C>G)
c.*819C>G (n.*819C>G)
c.803C>G (p.Ala268Gly)
c.824C>G (p.Ala275Gly)
n.258C>G
c.1031C>G (p.Ala344Gly)
c.806C>G (p.Ala269Gly)
c.1028C>G (p.Ala343Gly)
c.878C>G (p.Ala293Gly)
c.671C>G (p.Ala224Gly)
c.458C>G (p.Ala153Gly)
n.696C>G
Xg.154562868C>TCA415216246IKBKGc.791C>T (p.Ala264Val)
c.827C>T (p.Ala276Val)
c.425C>T (p.Ala142Val)
c.*208C>T (n.*208C>T)
n.2224C>T
c.674C>T (p.Ala225Val)
c.884C>T (p.Ala295Val)
n.2227C>T
c.616-691C>T (n.616-691C>T)
c.*819C>T (n.*819C>T)
c.803C>T (p.Ala268Val)
c.824C>T (p.Ala275Val)
n.258C>T
c.1031C>T (p.Ala344Val)
c.806C>T (p.Ala269Val)
c.1028C>T (p.Ala343Val)
c.878C>T (p.Ala293Val)
c.671C>T (p.Ala224Val)
c.458C>T (p.Ala153Val)
n.696C>T
dbSNP
Xg.154562869C>ACA519286448IKBKGc.792C>A (p.Ala264=)
c.828C>A (p.Ala276=)
c.426C>A (p.Ala142=)
c.*209C>A (n.*209C>A)
n.2225C>A
c.675C>A (p.Ala225=)
c.885C>A (p.Ala295=)
n.2228C>A
c.616-690C>A (n.616-690C>A)
c.*820C>A (n.*820C>A)
c.804C>A (p.Ala268=)
c.825C>A (p.Ala275=)
n.259C>A
c.1032C>A (p.Ala344=)
c.807C>A (p.Ala269=)
c.1029C>A (p.Ala343=)
c.879C>A (p.Ala293=)
c.672C>A (p.Ala224=)
c.459C>A (p.Ala153=)
n.697C>A
Xg.154562869C=CA2466734038IKBKGc.792C= (p.Ala264=)
c.828C= (p.Ala276=)
c.426C= (p.Ala142=)
c.*209C= (n.*209C=)
n.2225C=
c.675C= (p.Ala225=)
c.885C= (p.Ala295=)
n.2228C=
c.616-690C= (n.616-690C=)
c.*820C= (n.*820C=)
c.804C= (p.Ala268=)
c.825C= (p.Ala275=)
n.259C=
c.1032C= (p.Ala344=)
c.807C= (p.Ala269=)
c.1029C= (p.Ala343=)
c.879C= (p.Ala293=)
c.672C= (p.Ala224=)
c.459C= (p.Ala153=)
n.697C=
Xg.154562869C>GCA519286449IKBKGc.792C>G (p.Ala264=)
c.828C>G (p.Ala276=)
c.426C>G (p.Ala142=)
c.*209C>G (n.*209C>G)
n.2225C>G
c.675C>G (p.Ala225=)
c.885C>G (p.Ala295=)
n.2228C>G
c.616-690C>G (n.616-690C>G)
c.*820C>G (n.*820C>G)
c.804C>G (p.Ala268=)
c.825C>G (p.Ala275=)
n.259C>G
c.1032C>G (p.Ala344=)
c.807C>G (p.Ala269=)
c.1029C>G (p.Ala343=)
c.879C>G (p.Ala293=)
c.672C>G (p.Ala224=)
c.459C>G (p.Ala153=)
n.697C>G
Xg.154562869C>TCA519286450IKBKGc.792C>T (p.Ala264=)
c.828C>T (p.Ala276=)
c.426C>T (p.Ala142=)
c.*209C>T (n.*209C>T)
n.2225C>T
c.675C>T (p.Ala225=)
c.885C>T (p.Ala295=)
n.2228C>T
c.616-690C>T (n.616-690C>T)
c.*820C>T (n.*820C>T)
c.804C>T (p.Ala268=)
c.825C>T (p.Ala275=)
n.259C>T
c.1032C>T (p.Ala344=)
c.807C>T (p.Ala269=)
c.1029C>T (p.Ala343=)
c.879C>T (p.Ala293=)
c.672C>T (p.Ala224=)
c.459C>T (p.Ala153=)
n.697C>T
dbSNP
Xg.154562870A>CCA415216253IKBKGc.793A>C (p.Lys265Gln)
c.829A>C (p.Lys277Gln)
c.427A>C (p.Lys143Gln)
c.*210A>C (n.*210A>C)
n.2226A>C
c.676A>C (p.Lys226Gln)
c.886A>C (p.Lys296Gln)
n.2229A>C
c.616-689A>C (n.616-689A>C)
c.*821A>C (n.*821A>C)
c.805A>C (p.Lys269Gln)
c.826A>C (p.Lys276Gln)
n.260A>C
c.1033A>C (p.Lys345Gln)
c.808A>C (p.Lys270Gln)
c.1030A>C (p.Lys344Gln)
c.880A>C (p.Lys294Gln)
c.673A>C (p.Lys225Gln)
c.460A>C (p.Lys154Gln)
n.698A>C
Xg.154562870A>GCA415216260IKBKGc.793A>G (p.Lys265Glu)
c.829A>G (p.Lys277Glu)
c.427A>G (p.Lys143Glu)
c.*210A>G (n.*210A>G)
n.2226A>G
c.676A>G (p.Lys226Glu)
c.886A>G (p.Lys296Glu)
n.2229A>G
c.616-689A>G (n.616-689A>G)
c.*821A>G (n.*821A>G)
c.805A>G (p.Lys269Glu)
c.826A>G (p.Lys276Glu)
n.260A>G
c.1033A>G (p.Lys345Glu)
c.808A>G (p.Lys270Glu)
c.1030A>G (p.Lys344Glu)
c.880A>G (p.Lys294Glu)
c.673A>G (p.Lys225Glu)
c.460A>G (p.Lys154Glu)
n.698A>G
Xg.154562870A>TCA415216249IKBKGc.793A>T (p.Lys265Ter)
c.829A>T (p.Lys277Ter)
c.427A>T (p.Lys143Ter)
c.*210A>T (n.*210A>T)
n.2226A>T
c.676A>T (p.Lys226Ter)
c.886A>T (p.Lys296Ter)
n.2229A>T
c.616-689A>T (n.616-689A>T)
c.*821A>T (n.*821A>T)
c.805A>T (p.Lys269Ter)
c.826A>T (p.Lys276Ter)
n.260A>T
c.1033A>T (p.Lys345Ter)
c.808A>T (p.Lys270Ter)
c.1030A>T (p.Lys344Ter)
c.880A>T (p.Lys294Ter)
c.673A>T (p.Lys225Ter)
c.460A>T (p.Lys154Ter)
n.698A>T
Xg.154562871A>CCA415216264IKBKGc.794A>C (p.Lys265Thr)
c.830A>C (p.Lys277Thr)
c.428A>C (p.Lys143Thr)
c.*211A>C (n.*211A>C)
n.2227A>C
c.677A>C (p.Lys226Thr)
c.887A>C (p.Lys296Thr)
n.2230A>C
c.616-688A>C (n.616-688A>C)
c.*822A>C (n.*822A>C)
c.806A>C (p.Lys269Thr)
c.827A>C (p.Lys276Thr)
n.261A>C
c.1034A>C (p.Lys345Thr)
c.809A>C (p.Lys270Thr)
c.1031A>C (p.Lys344Thr)
c.881A>C (p.Lys294Thr)
c.674A>C (p.Lys225Thr)
c.461A>C (p.Lys154Thr)
n.699A>C
Xg.154562871A>GCA415216267IKBKGc.794A>G (p.Lys265Arg)
c.830A>G (p.Lys277Arg)
c.428A>G (p.Lys143Arg)
c.*211A>G (n.*211A>G)
n.2227A>G
c.677A>G (p.Lys226Arg)
c.887A>G (p.Lys296Arg)
n.2230A>G
c.616-688A>G (n.616-688A>G)
c.*822A>G (n.*822A>G)
c.806A>G (p.Lys269Arg)
c.827A>G (p.Lys276Arg)
n.261A>G
c.1034A>G (p.Lys345Arg)
c.809A>G (p.Lys270Arg)
c.1031A>G (p.Lys344Arg)
c.881A>G (p.Lys294Arg)
c.674A>G (p.Lys225Arg)
c.461A>G (p.Lys154Arg)
n.699A>G
Xg.154562871A>TCA415216269IKBKGc.794A>T (p.Lys265Ile)
c.830A>T (p.Lys277Ile)
c.428A>T (p.Lys143Ile)
c.*211A>T (n.*211A>T)
n.2227A>T
c.677A>T (p.Lys226Ile)
c.887A>T (p.Lys296Ile)
n.2230A>T
c.616-688A>T (n.616-688A>T)
c.*822A>T (n.*822A>T)
c.806A>T (p.Lys269Ile)
c.827A>T (p.Lys276Ile)
n.261A>T
c.1034A>T (p.Lys345Ile)
c.809A>T (p.Lys270Ile)
c.1031A>T (p.Lys344Ile)
c.881A>T (p.Lys294Ile)
c.674A>T (p.Lys225Ile)
c.461A>T (p.Lys154Ile)
n.699A>T
Xg.154562872A>CCA415216270IKBKGc.795A>C (p.Lys265Asn)
c.831A>C (p.Lys277Asn)
c.429A>C (p.Lys143Asn)
c.*212A>C (n.*212A>C)
n.2228A>C
c.678A>C (p.Lys226Asn)
c.888A>C (p.Lys296Asn)
n.2231A>C
c.616-687A>C (n.616-687A>C)
c.*823A>C (n.*823A>C)
c.807A>C (p.Lys269Asn)
c.828A>C (p.Lys276Asn)
n.262A>C
c.1035A>C (p.Lys345Asn)
c.810A>C (p.Lys270Asn)
c.1032A>C (p.Lys344Asn)
c.882A>C (p.Lys294Asn)
c.675A>C (p.Lys225Asn)
c.462A>C (p.Lys154Asn)
n.700A>C
Xg.154562872A>GCA519286451IKBKGc.795A>G (p.Lys265=)
c.831A>G (p.Lys277=)
c.429A>G (p.Lys143=)
c.*212A>G (n.*212A>G)
n.2228A>G
c.678A>G (p.Lys226=)
c.888A>G (p.Lys296=)
n.2231A>G
c.616-687A>G (n.616-687A>G)
c.*823A>G (n.*823A>G)
c.807A>G (p.Lys269=)
c.828A>G (p.Lys276=)
n.262A>G
c.1035A>G (p.Lys345=)
c.810A>G (p.Lys270=)
c.1032A>G (p.Lys344=)
c.882A>G (p.Lys294=)
c.675A>G (p.Lys225=)
c.462A>G (p.Lys154=)
n.700A>G
gnomAD v4
Xg.154562872A>TCA415216271IKBKGc.795A>T (p.Lys265Asn)
c.831A>T (p.Lys277Asn)
c.429A>T (p.Lys143Asn)
c.*212A>T (n.*212A>T)
n.2228A>T
c.678A>T (p.Lys226Asn)
c.888A>T (p.Lys296Asn)
n.2231A>T
c.616-687A>T (n.616-687A>T)
c.*823A>T (n.*823A>T)
c.807A>T (p.Lys269Asn)
c.828A>T (p.Lys276Asn)
n.262A>T
c.1035A>T (p.Lys345Asn)
c.810A>T (p.Lys270Asn)
c.1032A>T (p.Lys344Asn)
c.882A>T (p.Lys294Asn)
c.675A>T (p.Lys225Asn)
c.462A>T (p.Lys154Asn)
n.700A>T
Xg.154562873C>ACA415216277IKBKGc.796C>A (p.Gln266Lys)
c.832C>A (p.Gln278Lys)
c.430C>A (p.Gln144Lys)
c.*213C>A (n.*213C>A)
n.2229C>A
c.679C>A (p.Gln227Lys)
c.889C>A (p.Gln297Lys)
n.2232C>A
c.616-686C>A (n.616-686C>A)
c.*824C>A (n.*824C>A)
c.808C>A (p.Gln270Lys)
c.829C>A (p.Gln277Lys)
n.263C>A
c.1036C>A (p.Gln346Lys)
c.811C>A (p.Gln271Lys)
c.1033C>A (p.Gln345Lys)
c.883C>A (p.Gln295Lys)
c.676C>A (p.Gln226Lys)
c.463C>A (p.Gln155Lys)
n.701C>A
Xg.154562873C>GCA415216273IKBKGc.796C>G (p.Gln266Glu)
c.832C>G (p.Gln278Glu)
c.430C>G (p.Gln144Glu)
c.*213C>G (n.*213C>G)
n.2229C>G
c.679C>G (p.Gln227Glu)
c.889C>G (p.Gln297Glu)
n.2232C>G
c.616-686C>G (n.616-686C>G)
c.*824C>G (n.*824C>G)
c.808C>G (p.Gln270Glu)
c.829C>G (p.Gln277Glu)
n.263C>G
c.1036C>G (p.Gln346Glu)
c.811C>G (p.Gln271Glu)
c.1033C>G (p.Gln345Glu)
c.883C>G (p.Gln295Glu)
c.676C>G (p.Gln226Glu)
c.463C>G (p.Gln155Glu)
n.701C>G
Xg.154562873C>TCA415216275IKBKGc.796C>T (p.Gln266Ter)
c.832C>T (p.Gln278Ter)
c.430C>T (p.Gln144Ter)
c.*213C>T (n.*213C>T)
n.2229C>T
c.679C>T (p.Gln227Ter)
c.889C>T (p.Gln297Ter)
n.2232C>T
c.616-686C>T (n.616-686C>T)
c.*824C>T (n.*824C>T)
c.808C>T (p.Gln270Ter)
c.829C>T (p.Gln277Ter)
n.263C>T
c.1036C>T (p.Gln346Ter)
c.811C>T (p.Gln271Ter)
c.1033C>T (p.Gln345Ter)
c.883C>T (p.Gln295Ter)
c.676C>T (p.Gln226Ter)
c.463C>T (p.Gln155Ter)
n.701C>T
Xg.154562874A>CCA415216279IKBKGc.797A>C (p.Gln266Pro)
c.833A>C (p.Gln278Pro)
c.431A>C (p.Gln144Pro)
c.*214A>C (n.*214A>C)
n.2230A>C
c.680A>C (p.Gln227Pro)
c.890A>C (p.Gln297Pro)
n.2233A>C
c.616-685A>C (n.616-685A>C)
c.*825A>C (n.*825A>C)
c.809A>C (p.Gln270Pro)
c.830A>C (p.Gln277Pro)
n.264A>C
c.1037A>C (p.Gln346Pro)
c.812A>C (p.Gln271Pro)
c.1034A>C (p.Gln345Pro)
c.884A>C (p.Gln295Pro)
c.677A>C (p.Gln226Pro)
c.464A>C (p.Gln155Pro)
n.702A>C
Xg.154562874A>GCA415216282IKBKGc.797A>G (p.Gln266Arg)
c.833A>G (p.Gln278Arg)
c.431A>G (p.Gln144Arg)
c.*214A>G (n.*214A>G)
n.2230A>G
c.680A>G (p.Gln227Arg)
c.890A>G (p.Gln297Arg)
n.2233A>G
c.616-685A>G (n.616-685A>G)
c.*825A>G (n.*825A>G)
c.809A>G (p.Gln270Arg)
c.830A>G (p.Gln277Arg)
n.264A>G
c.1037A>G (p.Gln346Arg)
c.812A>G (p.Gln271Arg)
c.1034A>G (p.Gln345Arg)
c.884A>G (p.Gln295Arg)
c.677A>G (p.Gln226Arg)
c.464A>G (p.Gln155Arg)
n.702A>G
Xg.154562874A>TCA415216285IKBKGc.797A>T (p.Gln266Leu)
c.833A>T (p.Gln278Leu)
c.431A>T (p.Gln144Leu)
c.*214A>T (n.*214A>T)
n.2230A>T
c.680A>T (p.Gln227Leu)
c.890A>T (p.Gln297Leu)
n.2233A>T
c.616-685A>T (n.616-685A>T)
c.*825A>T (n.*825A>T)
c.809A>T (p.Gln270Leu)
c.830A>T (p.Gln277Leu)
n.264A>T
c.1037A>T (p.Gln346Leu)
c.812A>T (p.Gln271Leu)
c.1034A>T (p.Gln345Leu)
c.884A>T (p.Gln295Leu)
c.677A>T (p.Gln226Leu)
c.464A>T (p.Gln155Leu)
n.702A>T
Xg.154562877_154562879delCA2580612533IKBKGc.800_802del (p.Glu267del)
c.836_838del (p.Glu279del)
c.434_436del (p.Glu145del)
c.*217_*219del (n.*217_*219del)
n.2233_2235del
c.683_685del (p.Glu228del)
c.893_895del (p.Glu298del)
n.2236_2238del
c.616-682_616-680del (n.616-682_616-680del)
c.*828_*830del (n.*828_*830del)
c.812_814del (p.Glu271del)
c.833_835del (p.Glu278del)
n.267_269del
c.1040_1042del (p.Glu347del)
c.815_817del (p.Glu272del)
c.1037_1039del (p.Glu346del)
c.887_889del (p.Glu296del)
c.680_682del (p.Glu227del)
c.467_469del (p.Glu156del)
n.705_707del
ClinVar dbSNP
Xg.154562875G>ACA519286456IKBKGc.798G>A (p.Gln266=)
c.834G>A (p.Gln278=)
c.432G>A (p.Gln144=)
c.*215G>A (n.*215G>A)
n.2231G>A
c.681G>A (p.Gln227=)
c.891G>A (p.Gln297=)
n.2234G>A
c.616-684G>A (n.616-684G>A)
c.*826G>A (n.*826G>A)
c.810G>A (p.Gln270=)
c.831G>A (p.Gln277=)
n.265G>A
c.1038G>A (p.Gln346=)
c.813G>A (p.Gln271=)
c.1035G>A (p.Gln345=)
c.885G>A (p.Gln295=)
c.678G>A (p.Gln226=)
c.465G>A (p.Gln155=)
n.703G>A
Xg.154562875G>CCA415216289IKBKGc.798G>C (p.Gln266His)
c.834G>C (p.Gln278His)
c.432G>C (p.Gln144His)
c.*215G>C (n.*215G>C)
n.2231G>C
c.681G>C (p.Gln227His)
c.891G>C (p.Gln297His)
n.2234G>C
c.616-684G>C (n.616-684G>C)
c.*826G>C (n.*826G>C)
c.810G>C (p.Gln270His)
c.831G>C (p.Gln277His)
n.265G>C
c.1038G>C (p.Gln346His)
c.813G>C (p.Gln271His)
c.1035G>C (p.Gln345His)
c.885G>C (p.Gln295His)
c.678G>C (p.Gln226His)
c.465G>C (p.Gln155His)
n.703G>C
Xg.154562875G>TCA415216290IKBKGc.798G>T (p.Gln266His)
c.834G>T (p.Gln278His)
c.432G>T (p.Gln144His)
c.*215G>T (n.*215G>T)
n.2231G>T
c.681G>T (p.Gln227His)
c.891G>T (p.Gln297His)
n.2234G>T
c.616-684G>T (n.616-684G>T)
c.*826G>T (n.*826G>T)
c.810G>T (p.Gln270His)
c.831G>T (p.Gln277His)
n.265G>T
c.1038G>T (p.Gln346His)
c.813G>T (p.Gln271His)
c.1035G>T (p.Gln345His)
c.885G>T (p.Gln295His)
c.678G>T (p.Gln226His)
c.465G>T (p.Gln155His)
n.703G>T
Xg.154562876G>ACA415216294IKBKGc.799G>A (p.Glu267Lys)
c.835G>A (p.Glu279Lys)
c.433G>A (p.Glu145Lys)
c.*216G>A (n.*216G>A)
n.2232G>A
c.682G>A (p.Glu228Lys)
c.892G>A (p.Glu298Lys)
n.2235G>A
c.616-683G>A (n.616-683G>A)
c.*827G>A (n.*827G>A)
c.811G>A (p.Glu271Lys)
c.832G>A (p.Glu278Lys)
n.266G>A
c.1039G>A (p.Glu347Lys)
c.814G>A (p.Glu272Lys)
c.1036G>A (p.Glu346Lys)
c.886G>A (p.Glu296Lys)
c.679G>A (p.Glu227Lys)
c.466G>A (p.Glu156Lys)
n.704G>A
Xg.154562876G>CCA415216299IKBKGc.799G>C (p.Glu267Gln)
c.835G>C (p.Glu279Gln)
c.433G>C (p.Glu145Gln)
c.*216G>C (n.*216G>C)
n.2232G>C
c.682G>C (p.Glu228Gln)
c.892G>C (p.Glu298Gln)
n.2235G>C
c.616-683G>C (n.616-683G>C)
c.*827G>C (n.*827G>C)
c.811G>C (p.Glu271Gln)
c.832G>C (p.Glu278Gln)
n.266G>C
c.1039G>C (p.Glu347Gln)
c.814G>C (p.Glu272Gln)
c.1036G>C (p.Glu346Gln)
c.886G>C (p.Glu296Gln)
c.679G>C (p.Glu227Gln)
c.466G>C (p.Glu156Gln)
n.704G>C
Xg.154562876G>TCA415216296IKBKGc.799G>T (p.Glu267Ter)
c.835G>T (p.Glu279Ter)
c.433G>T (p.Glu145Ter)
c.*216G>T (n.*216G>T)
n.2232G>T
c.682G>T (p.Glu228Ter)
c.892G>T (p.Glu298Ter)
n.2235G>T
c.616-683G>T (n.616-683G>T)
c.*827G>T (n.*827G>T)
c.811G>T (p.Glu271Ter)
c.832G>T (p.Glu278Ter)
n.266G>T
c.1039G>T (p.Glu347Ter)
c.814G>T (p.Glu272Ter)
c.1036G>T (p.Glu346Ter)
c.886G>T (p.Glu296Ter)
c.679G>T (p.Glu227Ter)
c.466G>T (p.Glu156Ter)
n.704G>T
Xg.154562877A>CCA415216302IKBKGc.800A>C (p.Glu267Ala)
c.836A>C (p.Glu279Ala)
c.434A>C (p.Glu145Ala)
c.*217A>C (n.*217A>C)
n.2233A>C
c.683A>C (p.Glu228Ala)
c.893A>C (p.Glu298Ala)
n.2236A>C
c.616-682A>C (n.616-682A>C)
c.*828A>C (n.*828A>C)
c.812A>C (p.Glu271Ala)
c.833A>C (p.Glu278Ala)
n.267A>C
c.1040A>C (p.Glu347Ala)
c.815A>C (p.Glu272Ala)
c.1037A>C (p.Glu346Ala)
c.887A>C (p.Glu296Ala)
c.680A>C (p.Glu227Ala)
c.467A>C (p.Glu156Ala)
n.705A>C
Xg.154562877A>GCA415216303IKBKGc.800A>G (p.Glu267Gly)
c.836A>G (p.Glu279Gly)
c.434A>G (p.Glu145Gly)
c.*217A>G (n.*217A>G)
n.2233A>G
c.683A>G (p.Glu228Gly)
c.893A>G (p.Glu298Gly)
n.2236A>G
c.616-682A>G (n.616-682A>G)
c.*828A>G (n.*828A>G)
c.812A>G (p.Glu271Gly)
c.833A>G (p.Glu278Gly)
n.267A>G
c.1040A>G (p.Glu347Gly)
c.815A>G (p.Glu272Gly)
c.1037A>G (p.Glu346Gly)
c.887A>G (p.Glu296Gly)
c.680A>G (p.Glu227Gly)
c.467A>G (p.Glu156Gly)
n.705A>G
Xg.154562877A>TCA415216307IKBKGc.800A>T (p.Glu267Val)
c.836A>T (p.Glu279Val)
c.434A>T (p.Glu145Val)
c.*217A>T (n.*217A>T)
n.2233A>T
c.683A>T (p.Glu228Val)
c.893A>T (p.Glu298Val)
n.2236A>T
c.616-682A>T (n.616-682A>T)
c.*828A>T (n.*828A>T)
c.812A>T (p.Glu271Val)
c.833A>T (p.Glu278Val)
n.267A>T
c.1040A>T (p.Glu347Val)
c.815A>T (p.Glu272Val)
c.1037A>T (p.Glu346Val)
c.887A>T (p.Glu296Val)
c.680A>T (p.Glu227Val)
c.467A>T (p.Glu156Val)
n.705A>T
Xg.154562878G>ACA519286458IKBKGc.801G>A (p.Glu267=)
c.837G>A (p.Glu279=)
c.435G>A (p.Glu145=)
c.*218G>A (n.*218G>A)
n.2234G>A
c.684G>A (p.Glu228=)
c.894G>A (p.Glu298=)
n.2237G>A
c.616-681G>A (n.616-681G>A)
c.*829G>A (n.*829G>A)
c.813G>A (p.Glu271=)
c.834G>A (p.Glu278=)
n.268G>A
c.1041G>A (p.Glu347=)
c.816G>A (p.Glu272=)
c.1038G>A (p.Glu346=)
c.888G>A (p.Glu296=)
c.681G>A (p.Glu227=)
c.468G>A (p.Glu156=)
n.706G>A
gnomAD v4
Xg.154562878G>CCA415216311IKBKGc.801G>C (p.Glu267Asp)
c.837G>C (p.Glu279Asp)
c.435G>C (p.Glu145Asp)
c.*218G>C (n.*218G>C)
n.2234G>C
c.684G>C (p.Glu228Asp)
c.894G>C (p.Glu298Asp)
n.2237G>C
c.616-681G>C (n.616-681G>C)
c.*829G>C (n.*829G>C)
c.813G>C (p.Glu271Asp)
c.834G>C (p.Glu278Asp)
n.268G>C
c.1041G>C (p.Glu347Asp)
c.816G>C (p.Glu272Asp)
c.1038G>C (p.Glu346Asp)
c.888G>C (p.Glu296Asp)
c.681G>C (p.Glu227Asp)
c.468G>C (p.Glu156Asp)
n.706G>C
Xg.154562878G>TCA415216315IKBKGc.801G>T (p.Glu267Asp)
c.837G>T (p.Glu279Asp)
c.435G>T (p.Glu145Asp)
c.*218G>T (n.*218G>T)
n.2234G>T
c.684G>T (p.Glu228Asp)
c.894G>T (p.Glu298Asp)
n.2237G>T
c.616-681G>T (n.616-681G>T)
c.*829G>T (n.*829G>T)
c.813G>T (p.Glu271Asp)
c.834G>T (p.Glu278Asp)
n.268G>T
c.1041G>T (p.Glu347Asp)
c.816G>T (p.Glu272Asp)
c.1038G>T (p.Glu346Asp)
c.888G>T (p.Glu296Asp)
c.681G>T (p.Glu227Asp)
c.468G>T (p.Glu156Asp)
n.706G>T
Xg.154562879G>ACA415216319IKBKGc.802G>A (p.Val268Met)
c.838G>A (p.Val280Met)
c.436G>A (p.Val146Met)
c.*219G>A (n.*219G>A)
n.2235G>A
c.685G>A (p.Val229Met)
c.895G>A (p.Val299Met)
n.2238G>A
c.616-680G>A (n.616-680G>A)
c.*830G>A (n.*830G>A)
c.814G>A (p.Val272Met)
c.835G>A (p.Val279Met)
n.269G>A
c.1042G>A (p.Val348Met)
c.817G>A (p.Val273Met)
c.1039G>A (p.Val347Met)
c.889G>A (p.Val297Met)
c.682G>A (p.Val228Met)
c.469G>A (p.Val157Met)
n.707G>A
Xg.154562879G>CCA415216324IKBKGc.802G>C (p.Val268Leu)
c.838G>C (p.Val280Leu)
c.436G>C (p.Val146Leu)
c.*219G>C (n.*219G>C)
n.2235G>C
c.685G>C (p.Val229Leu)
c.895G>C (p.Val299Leu)
n.2238G>C
c.616-680G>C (n.616-680G>C)
c.*830G>C (n.*830G>C)
c.814G>C (p.Val272Leu)
c.835G>C (p.Val279Leu)
n.269G>C
c.1042G>C (p.Val348Leu)
c.817G>C (p.Val273Leu)
c.1039G>C (p.Val347Leu)
c.889G>C (p.Val297Leu)
c.682G>C (p.Val228Leu)
c.469G>C (p.Val157Leu)
n.707G>C
Xg.154562879G>TCA415216327IKBKGc.802G>T (p.Val268Leu)
c.838G>T (p.Val280Leu)
c.436G>T (p.Val146Leu)
c.*219G>T (n.*219G>T)
n.2235G>T
c.685G>T (p.Val229Leu)
c.895G>T (p.Val299Leu)
n.2238G>T
c.616-680G>T (n.616-680G>T)
c.*830G>T (n.*830G>T)
c.814G>T (p.Val272Leu)
c.835G>T (p.Val279Leu)
n.269G>T
c.1042G>T (p.Val348Leu)
c.817G>T (p.Val273Leu)
c.1039G>T (p.Val347Leu)
c.889G>T (p.Val297Leu)
c.682G>T (p.Val228Leu)
c.469G>T (p.Val157Leu)
n.707G>T
Xg.154562880T>ACA415216332IKBKGc.803T>A (p.Val268Glu)
c.839T>A (p.Val280Glu)
c.437T>A (p.Val146Glu)
c.*220T>A (n.*220T>A)
n.2236T>A
c.686T>A (p.Val229Glu)
c.896T>A (p.Val299Glu)
n.2239T>A
c.616-679T>A (n.616-679T>A)
c.*831T>A (n.*831T>A)
c.815T>A (p.Val272Glu)
c.836T>A (p.Val279Glu)
n.270T>A
c.1043T>A (p.Val348Glu)
c.818T>A (p.Val273Glu)
c.1040T>A (p.Val347Glu)
c.890T>A (p.Val297Glu)
c.683T>A (p.Val228Glu)
c.470T>A (p.Val157Glu)
n.708T>A
gnomAD v3 gnomAD v4
Xg.154562880T>CCA415216336IKBKGc.803T>C (p.Val268Ala)
c.839T>C (p.Val280Ala)
c.437T>C (p.Val146Ala)
c.*220T>C (n.*220T>C)
n.2236T>C
c.686T>C (p.Val229Ala)
c.896T>C (p.Val299Ala)
n.2239T>C
c.616-679T>C (n.616-679T>C)
c.*831T>C (n.*831T>C)
c.815T>C (p.Val272Ala)
c.836T>C (p.Val279Ala)
n.270T>C
c.1043T>C (p.Val348Ala)
c.818T>C (p.Val273Ala)
c.1040T>C (p.Val347Ala)
c.890T>C (p.Val297Ala)
c.683T>C (p.Val228Ala)
c.470T>C (p.Val157Ala)
n.708T>C
Xg.154562880T>GCA415216342IKBKGc.803T>G (p.Val268Gly)
c.839T>G (p.Val280Gly)
c.437T>G (p.Val146Gly)
c.*220T>G (n.*220T>G)
n.2236T>G
c.686T>G (p.Val229Gly)
c.896T>G (p.Val299Gly)
n.2239T>G
c.616-679T>G (n.616-679T>G)
c.*831T>G (n.*831T>G)
c.815T>G (p.Val272Gly)
c.836T>G (p.Val279Gly)
n.270T>G
c.1043T>G (p.Val348Gly)
c.818T>G (p.Val273Gly)
c.1040T>G (p.Val347Gly)
c.890T>G (p.Val297Gly)
c.683T>G (p.Val228Gly)
c.470T>G (p.Val157Gly)
n.708T>G
dbSNP gnomAD v3 gnomAD v4
Xg.154562881G>ACA519286460IKBKGc.804G>A (p.Val268=)
c.840G>A (p.Val280=)
c.438G>A (p.Val146=)
c.*221G>A (n.*221G>A)
n.2237G>A
c.687G>A (p.Val229=)
c.897G>A (p.Val299=)
n.2240G>A
c.616-678G>A (n.616-678G>A)
c.*832G>A (n.*832G>A)
c.816G>A (p.Val272=)
c.837G>A (p.Val279=)
n.271G>A
c.1044G>A (p.Val348=)
c.819G>A (p.Val273=)
c.1041G>A (p.Val347=)
c.891G>A (p.Val297=)
c.684G>A (p.Val228=)
c.471G>A (p.Val157=)
n.709G>A
Xg.154562881G>CCA519286461IKBKGc.804G>C (p.Val268=)
c.840G>C (p.Val280=)
c.438G>C (p.Val146=)
c.*221G>C (n.*221G>C)
n.2237G>C
c.687G>C (p.Val229=)
c.897G>C (p.Val299=)
n.2240G>C
c.616-678G>C (n.616-678G>C)
c.*832G>C (n.*832G>C)
c.816G>C (p.Val272=)
c.837G>C (p.Val279=)
n.271G>C
c.1044G>C (p.Val348=)
c.819G>C (p.Val273=)
c.1041G>C (p.Val347=)
c.891G>C (p.Val297=)
c.684G>C (p.Val228=)
c.471G>C (p.Val157=)
n.709G>C
Xg.154562881G>TCA519286462IKBKGc.804G>T (p.Val268=)
c.840G>T (p.Val280=)
c.438G>T (p.Val146=)
c.*221G>T (n.*221G>T)
n.2237G>T
c.687G>T (p.Val229=)
c.897G>T (p.Val299=)
n.2240G>T
c.616-678G>T (n.616-678G>T)
c.*832G>T (n.*832G>T)
c.816G>T (p.Val272=)
c.837G>T (p.Val279=)
n.271G>T
c.1044G>T (p.Val348=)
c.819G>T (p.Val273=)
c.1041G>T (p.Val347=)
c.891G>T (p.Val297=)
c.684G>T (p.Val228=)
c.471G>T (p.Val157=)
n.709G>T
Xg.154562882A>CCA415216351IKBKGc.805A>C (p.Ile269Leu)
c.841A>C (p.Ile281Leu)
c.439A>C (p.Ile147Leu)
c.*222A>C (n.*222A>C)
n.2238A>C
c.688A>C (p.Ile230Leu)
c.898A>C (p.Ile300Leu)
n.2241A>C
c.616-677A>C (n.616-677A>C)
c.*833A>C (n.*833A>C)
c.817A>C (p.Ile273Leu)
c.838A>C (p.Ile280Leu)
n.272A>C
c.1045A>C (p.Ile349Leu)
c.820A>C (p.Ile274Leu)
c.1042A>C (p.Ile348Leu)
c.892A>C (p.Ile298Leu)
c.685A>C (p.Ile229Leu)
c.472A>C (p.Ile158Leu)
n.710A>C
Xg.154562882A>GCA415216357IKBKGc.805A>G (p.Ile269Val)
c.841A>G (p.Ile281Val)
c.439A>G (p.Ile147Val)
c.*222A>G (n.*222A>G)
n.2238A>G
c.688A>G (p.Ile230Val)
c.898A>G (p.Ile300Val)
n.2241A>G
c.616-677A>G (n.616-677A>G)
c.*833A>G (n.*833A>G)
c.817A>G (p.Ile273Val)
c.838A>G (p.Ile280Val)
n.272A>G
c.1045A>G (p.Ile349Val)
c.820A>G (p.Ile274Val)
c.1042A>G (p.Ile348Val)
c.892A>G (p.Ile298Val)
c.685A>G (p.Ile229Val)
c.472A>G (p.Ile158Val)
n.710A>G
Xg.154562882A>TCA415216347IKBKGc.805A>T (p.Ile269Phe)
c.841A>T (p.Ile281Phe)
c.439A>T (p.Ile147Phe)
c.*222A>T (n.*222A>T)
n.2238A>T
c.688A>T (p.Ile230Phe)
c.898A>T (p.Ile300Phe)
n.2241A>T
c.616-677A>T (n.616-677A>T)
c.*833A>T (n.*833A>T)
c.817A>T (p.Ile273Phe)
c.838A>T (p.Ile280Phe)
n.272A>T
c.1045A>T (p.Ile349Phe)
c.820A>T (p.Ile274Phe)
c.1042A>T (p.Ile348Phe)
c.892A>T (p.Ile298Phe)
c.685A>T (p.Ile229Phe)
c.472A>T (p.Ile158Phe)
n.710A>T
Xg.154562883T>ACA415216363IKBKGc.806T>A (p.Ile269Asn)
c.842T>A (p.Ile281Asn)
c.440T>A (p.Ile147Asn)
c.*223T>A (n.*223T>A)
n.2239T>A
c.689T>A (p.Ile230Asn)
c.899T>A (p.Ile300Asn)
n.2242T>A
c.616-676T>A (n.616-676T>A)
c.*834T>A (n.*834T>A)
c.818T>A (p.Ile273Asn)
c.839T>A (p.Ile280Asn)
n.273T>A
c.1046T>A (p.Ile349Asn)
c.821T>A (p.Ile274Asn)
c.1043T>A (p.Ile348Asn)
c.893T>A (p.Ile298Asn)
c.686T>A (p.Ile229Asn)
c.473T>A (p.Ile158Asn)
n.711T>A
Xg.154562883T>CCA415216359IKBKGc.806T>C (p.Ile269Thr)
c.842T>C (p.Ile281Thr)
c.440T>C (p.Ile147Thr)
c.*223T>C (n.*223T>C)
n.2239T>C
c.689T>C (p.Ile230Thr)
c.899T>C (p.Ile300Thr)
n.2242T>C
c.616-676T>C (n.616-676T>C)
c.*834T>C (n.*834T>C)
c.818T>C (p.Ile273Thr)
c.839T>C (p.Ile280Thr)
n.273T>C
c.1046T>C (p.Ile349Thr)
c.821T>C (p.Ile274Thr)
c.1043T>C (p.Ile348Thr)
c.893T>C (p.Ile298Thr)
c.686T>C (p.Ile229Thr)
c.473T>C (p.Ile158Thr)
n.711T>C
Xg.154562883T>GCA415216374IKBKGc.806T>G (p.Ile269Ser)
c.842T>G (p.Ile281Ser)
c.440T>G (p.Ile147Ser)
c.*223T>G (n.*223T>G)
n.2239T>G
c.689T>G (p.Ile230Ser)
c.899T>G (p.Ile300Ser)
n.2242T>G
c.616-676T>G (n.616-676T>G)
c.*834T>G (n.*834T>G)
c.818T>G (p.Ile273Ser)
c.839T>G (p.Ile280Ser)
n.273T>G
c.1046T>G (p.Ile349Ser)
c.821T>G (p.Ile274Ser)
c.1043T>G (p.Ile348Ser)
c.893T>G (p.Ile298Ser)
c.686T>G (p.Ile229Ser)
c.473T>G (p.Ile158Ser)
n.711T>G
Xg.154562884C>ACA519286464IKBKGc.807C>A (p.Ile269=)
c.843C>A (p.Ile281=)
c.441C>A (p.Ile147=)
c.*224C>A (n.*224C>A)
n.2240C>A
c.690C>A (p.Ile230=)
c.900C>A (p.Ile300=)
n.2243C>A
c.616-675C>A (n.616-675C>A)
c.*835C>A (n.*835C>A)
c.819C>A (p.Ile273=)
c.840C>A (p.Ile280=)
n.274C>A
c.1047C>A (p.Ile349=)
c.822C>A (p.Ile274=)
c.1044C>A (p.Ile348=)
c.894C>A (p.Ile298=)
c.687C>A (p.Ile229=)
c.474C>A (p.Ile158=)
n.712C>A
gnomAD v4
Xg.154562884C>GCA415216380IKBKGc.807C>G (p.Ile269Met)
c.843C>G (p.Ile281Met)
c.441C>G (p.Ile147Met)
c.*224C>G (n.*224C>G)
n.2240C>G
c.690C>G (p.Ile230Met)
c.900C>G (p.Ile300Met)
n.2243C>G
c.616-675C>G (n.616-675C>G)
c.*835C>G (n.*835C>G)
c.819C>G (p.Ile273Met)
c.840C>G (p.Ile280Met)
n.274C>G
c.1047C>G (p.Ile349Met)
c.822C>G (p.Ile274Met)
c.1044C>G (p.Ile348Met)
c.894C>G (p.Ile298Met)
c.687C>G (p.Ile229Met)
c.474C>G (p.Ile158Met)
n.712C>G
Xg.154562884C>TCA519286465IKBKGc.807C>T (p.Ile269=)
c.843C>T (p.Ile281=)
c.441C>T (p.Ile147=)
c.*224C>T (n.*224C>T)
n.2240C>T
c.690C>T (p.Ile230=)
c.900C>T (p.Ile300=)
n.2243C>T
c.616-675C>T (n.616-675C>T)
c.*835C>T (n.*835C>T)
c.819C>T (p.Ile273=)
c.840C>T (p.Ile280=)
n.274C>T
c.1047C>T (p.Ile349=)
c.822C>T (p.Ile274=)
c.1044C>T (p.Ile348=)
c.894C>T (p.Ile298=)
c.687C>T (p.Ile229=)
c.474C>T (p.Ile158=)
n.712C>T
gnomAD v3 gnomAD v4
Xg.154562885G>ACA415216390IKBKGc.808G>A (p.Asp270Asn)
c.844G>A (p.Asp282Asn)
c.442G>A (p.Asp148Asn)
c.*225G>A (n.*225G>A)
n.2241G>A
c.691G>A (p.Asp231Asn)
c.901G>A (p.Asp301Asn)
n.2244G>A
c.616-674G>A (n.616-674G>A)
c.*836G>A (n.*836G>A)
c.820G>A (p.Asp274Asn)
c.841G>A (p.Asp281Asn)
n.275G>A
c.1048G>A (p.Asp350Asn)
c.823G>A (p.Asp275Asn)
c.1045G>A (p.Asp349Asn)
c.895G>A (p.Asp299Asn)
c.688G>A (p.Asp230Asn)
c.475G>A (p.Asp159Asn)
n.713G>A
gnomAD v3 gnomAD v4
Xg.154562885G>CCA415216385IKBKGc.808G>C (p.Asp270His)
c.844G>C (p.Asp282His)
c.442G>C (p.Asp148His)
c.*225G>C (n.*225G>C)
n.2241G>C
c.691G>C (p.Asp231His)
c.901G>C (p.Asp301His)
n.2244G>C
c.616-674G>C (n.616-674G>C)
c.*836G>C (n.*836G>C)
c.820G>C (p.Asp274His)
c.841G>C (p.Asp281His)
n.275G>C
c.1048G>C (p.Asp350His)
c.823G>C (p.Asp275His)
c.1045G>C (p.Asp349His)
c.895G>C (p.Asp299His)
c.688G>C (p.Asp230His)
c.475G>C (p.Asp159His)
n.713G>C
Xg.154562885G>TCA415216393IKBKGc.808G>T (p.Asp270Tyr)
c.844G>T (p.Asp282Tyr)
c.442G>T (p.Asp148Tyr)
c.*225G>T (n.*225G>T)
n.2241G>T
c.691G>T (p.Asp231Tyr)
c.901G>T (p.Asp301Tyr)
n.2244G>T
c.616-674G>T (n.616-674G>T)
c.*836G>T (n.*836G>T)
c.820G>T (p.Asp274Tyr)
c.841G>T (p.Asp281Tyr)
n.275G>T
c.1048G>T (p.Asp350Tyr)
c.823G>T (p.Asp275Tyr)
c.1045G>T (p.Asp349Tyr)
c.895G>T (p.Asp299Tyr)
c.688G>T (p.Asp230Tyr)
c.475G>T (p.Asp159Tyr)
n.713G>T
Xg.154562886A>CCA415216397IKBKGc.809A>C (p.Asp270Ala)
c.845A>C (p.Asp282Ala)
c.443A>C (p.Asp148Ala)
c.*226A>C (n.*226A>C)
n.2242A>C
c.692A>C (p.Asp231Ala)
c.902A>C (p.Asp301Ala)
n.2245A>C
c.616-673A>C (n.616-673A>C)
c.*837A>C (n.*837A>C)
c.821A>C (p.Asp274Ala)
c.842A>C (p.Asp281Ala)
n.276A>C
c.1049A>C (p.Asp350Ala)
c.824A>C (p.Asp275Ala)
c.1046A>C (p.Asp349Ala)
c.896A>C (p.Asp299Ala)
c.689A>C (p.Asp230Ala)
c.476A>C (p.Asp159Ala)
n.714A>C
Xg.154562886A>GCA415216400IKBKGc.809A>G (p.Asp270Gly)
c.845A>G (p.Asp282Gly)
c.443A>G (p.Asp148Gly)
c.*226A>G (n.*226A>G)
n.2242A>G
c.692A>G (p.Asp231Gly)
c.902A>G (p.Asp301Gly)
n.2245A>G
c.616-673A>G (n.616-673A>G)
c.*837A>G (n.*837A>G)
c.821A>G (p.Asp274Gly)
c.842A>G (p.Asp281Gly)
n.276A>G
c.1049A>G (p.Asp350Gly)
c.824A>G (p.Asp275Gly)
c.1046A>G (p.Asp349Gly)
c.896A>G (p.Asp299Gly)
c.689A>G (p.Asp230Gly)
c.476A>G (p.Asp159Gly)
n.714A>G
Xg.154562886A>TCA415216406IKBKGc.809A>T (p.Asp270Val)
c.845A>T (p.Asp282Val)
c.443A>T (p.Asp148Val)
c.*226A>T (n.*226A>T)
n.2242A>T
c.692A>T (p.Asp231Val)
c.902A>T (p.Asp301Val)
n.2245A>T
c.616-673A>T (n.616-673A>T)
c.*837A>T (n.*837A>T)
c.821A>T (p.Asp274Val)
c.842A>T (p.Asp281Val)
n.276A>T
c.1049A>T (p.Asp350Val)
c.824A>T (p.Asp275Val)
c.1046A>T (p.Asp349Val)
c.896A>T (p.Asp299Val)
c.689A>T (p.Asp230Val)
c.476A>T (p.Asp159Val)
n.714A>T
Xg.154562887T>ACA415216411IKBKGc.810T>A (p.Asp270Glu)
c.846T>A (p.Asp282Glu)
c.444T>A (p.Asp148Glu)
c.*227T>A (n.*227T>A)
n.2243T>A
c.693T>A (p.Asp231Glu)
c.903T>A (p.Asp301Glu)
n.2246T>A
c.616-672T>A (n.616-672T>A)
c.*838T>A (n.*838T>A)
c.822T>A (p.Asp274Glu)
c.843T>A (p.Asp281Glu)
n.277T>A
c.1050T>A (p.Asp350Glu)
c.825T>A (p.Asp275Glu)
c.1047T>A (p.Asp349Glu)
c.897T>A (p.Asp299Glu)
c.690T>A (p.Asp230Glu)
c.477T>A (p.Asp159Glu)
n.715T>A
Xg.154562887T>CCA519286467IKBKGc.810T>C (p.Asp270=)
c.846T>C (p.Asp282=)
c.444T>C (p.Asp148=)
c.*227T>C (n.*227T>C)
n.2243T>C
c.693T>C (p.Asp231=)
c.903T>C (p.Asp301=)
n.2246T>C
c.616-672T>C (n.616-672T>C)
c.*838T>C (n.*838T>C)
c.822T>C (p.Asp274=)
c.843T>C (p.Asp281=)
n.277T>C
c.1050T>C (p.Asp350=)
c.825T>C (p.Asp275=)
c.1047T>C (p.Asp349=)
c.897T>C (p.Asp299=)
c.690T>C (p.Asp230=)
c.477T>C (p.Asp159=)
n.715T>C
Xg.154562887T>GCA415216414IKBKGc.810T>G (p.Asp270Glu)
c.846T>G (p.Asp282Glu)
c.444T>G (p.Asp148Glu)
c.*227T>G (n.*227T>G)
n.2243T>G
c.693T>G (p.Asp231Glu)
c.903T>G (p.Asp301Glu)
n.2246T>G
c.616-672T>G (n.616-672T>G)
c.*838T>G (n.*838T>G)
c.822T>G (p.Asp274Glu)
c.843T>G (p.Asp281Glu)
n.277T>G
c.1050T>G (p.Asp350Glu)
c.825T>G (p.Asp275Glu)
c.1047T>G (p.Asp349Glu)
c.897T>G (p.Asp299Glu)
c.690T>G (p.Asp230Glu)
c.477T>G (p.Asp159Glu)
n.715T>G
Xg.154562888A>CCA415216419IKBKGc.811A>C (p.Lys271Gln)
c.847A>C (p.Lys283Gln)
c.445A>C (p.Lys149Gln)
c.*228A>C (n.*228A>C)
n.2244A>C
c.694A>C (p.Lys232Gln)
c.904A>C (p.Lys302Gln)
n.2247A>C
c.616-671A>C (n.616-671A>C)
c.*839A>C (n.*839A>C)
c.823A>C (p.Lys275Gln)
c.844A>C (p.Lys282Gln)
n.278A>C
c.1051A>C (p.Lys351Gln)
c.826A>C (p.Lys276Gln)
c.1048A>C (p.Lys350Gln)
c.898A>C (p.Lys300Gln)
c.691A>C (p.Lys231Gln)
c.478A>C (p.Lys160Gln)
n.716A>C
Xg.154562888A>GCA415216423IKBKGc.811A>G (p.Lys271Glu)
c.847A>G (p.Lys283Glu)
c.445A>G (p.Lys149Glu)
c.*228A>G (n.*228A>G)
n.2244A>G
c.694A>G (p.Lys232Glu)
c.904A>G (p.Lys302Glu)
n.2247A>G
c.616-671A>G (n.616-671A>G)
c.*839A>G (n.*839A>G)
c.823A>G (p.Lys275Glu)
c.844A>G (p.Lys282Glu)
n.278A>G
c.1051A>G (p.Lys351Glu)
c.826A>G (p.Lys276Glu)
c.1048A>G (p.Lys350Glu)
c.898A>G (p.Lys300Glu)
c.691A>G (p.Lys231Glu)
c.478A>G (p.Lys160Glu)
n.716A>G
Xg.154562888A>TCA415216426IKBKGc.811A>T (p.Lys271Ter)
c.847A>T (p.Lys283Ter)
c.445A>T (p.Lys149Ter)
c.*228A>T (n.*228A>T)
n.2244A>T
c.694A>T (p.Lys232Ter)
c.904A>T (p.Lys302Ter)
n.2247A>T
c.616-671A>T (n.616-671A>T)
c.*839A>T (n.*839A>T)
c.823A>T (p.Lys275Ter)
c.844A>T (p.Lys282Ter)
n.278A>T
c.1051A>T (p.Lys351Ter)
c.826A>T (p.Lys276Ter)
c.1048A>T (p.Lys350Ter)
c.898A>T (p.Lys300Ter)
c.691A>T (p.Lys231Ter)
c.478A>T (p.Lys160Ter)
n.716A>T
Xg.154562889A=CA2466734040IKBKGc.812A= (p.Lys271=)
c.848A= (p.Lys283=)
c.446A= (p.Lys149=)
c.*229A= (n.*229A=)
n.2245A=
c.695A= (p.Lys232=)
c.905A= (p.Lys302=)
n.2248A=
c.616-670A= (n.616-670A=)
c.*840A= (n.*840A=)
c.824A= (p.Lys275=)
c.845A= (p.Lys282=)
n.279A=
c.1052A= (p.Lys351=)
c.827A= (p.Lys276=)
c.1049A= (p.Lys350=)
c.899A= (p.Lys300=)
c.692A= (p.Lys231=)
c.479A= (p.Lys160=)
n.717A=
Xg.154562889A>CCA415216433IKBKGc.812A>C (p.Lys271Thr)
c.848A>C (p.Lys283Thr)
c.446A>C (p.Lys149Thr)
c.*229A>C (n.*229A>C)
n.2245A>C
c.695A>C (p.Lys232Thr)
c.905A>C (p.Lys302Thr)
n.2248A>C
c.616-670A>C (n.616-670A>C)
c.*840A>C (n.*840A>C)
c.824A>C (p.Lys275Thr)
c.845A>C (p.Lys282Thr)
n.279A>C
c.1052A>C (p.Lys351Thr)
c.827A>C (p.Lys276Thr)
c.1049A>C (p.Lys350Thr)
c.899A>C (p.Lys300Thr)
c.692A>C (p.Lys231Thr)
c.479A>C (p.Lys160Thr)
n.717A>C
Xg.154562889A>GCA415216439IKBKGc.812A>G (p.Lys271Arg)
c.848A>G (p.Lys283Arg)
c.446A>G (p.Lys149Arg)
c.*229A>G (n.*229A>G)
n.2245A>G
c.695A>G (p.Lys232Arg)
c.905A>G (p.Lys302Arg)
n.2248A>G
c.616-670A>G (n.616-670A>G)
c.*840A>G (n.*840A>G)
c.824A>G (p.Lys275Arg)
c.845A>G (p.Lys282Arg)
n.279A>G
c.1052A>G (p.Lys351Arg)
c.827A>G (p.Lys276Arg)
c.1049A>G (p.Lys350Arg)
c.899A>G (p.Lys300Arg)
c.692A>G (p.Lys231Arg)
c.479A>G (p.Lys160Arg)
n.717A>G
dbSNP gnomAD v3 gnomAD v4
Xg.154562889A>TCA415216442IKBKGc.812A>T (p.Lys271Met)
c.848A>T (p.Lys283Met)
c.446A>T (p.Lys149Met)
c.*229A>T (n.*229A>T)
n.2245A>T
c.695A>T (p.Lys232Met)
c.905A>T (p.Lys302Met)
n.2248A>T
c.616-670A>T (n.616-670A>T)
c.*840A>T (n.*840A>T)
c.824A>T (p.Lys275Met)
c.845A>T (p.Lys282Met)
n.279A>T
c.1052A>T (p.Lys351Met)
c.827A>T (p.Lys276Met)
c.1049A>T (p.Lys350Met)
c.899A>T (p.Lys300Met)
c.692A>T (p.Lys231Met)
c.479A>T (p.Lys160Met)
n.717A>T
Xg.154562890G>ACA519286468IKBKGc.813G>A (p.Lys271=)
c.849G>A (p.Lys283=)
c.447G>A (p.Lys149=)
c.*230G>A (n.*230G>A)
n.2246G>A
c.696G>A (p.Lys232=)
c.906G>A (p.Lys302=)
n.2249G>A
c.616-669G>A (n.616-669G>A)
c.*841G>A (n.*841G>A)
c.825G>A (p.Lys275=)
c.846G>A (p.Lys282=)
n.280G>A
c.1053G>A (p.Lys351=)
c.828G>A (p.Lys276=)
c.1050G>A (p.Lys350=)
c.900G>A (p.Lys300=)
c.693G>A (p.Lys231=)
c.480G>A (p.Lys160=)
n.718G>A
Xg.154562890G>CCA415216445IKBKGc.813G>C (p.Lys271Asn)
c.849G>C (p.Lys283Asn)
c.447G>C (p.Lys149Asn)
c.*230G>C (n.*230G>C)
n.2246G>C
c.696G>C (p.Lys232Asn)
c.906G>C (p.Lys302Asn)
n.2249G>C
c.616-669G>C (n.616-669G>C)
c.*841G>C (n.*841G>C)
c.825G>C (p.Lys275Asn)
c.846G>C (p.Lys282Asn)
n.280G>C
c.1053G>C (p.Lys351Asn)
c.828G>C (p.Lys276Asn)
c.1050G>C (p.Lys350Asn)
c.900G>C (p.Lys300Asn)
c.693G>C (p.Lys231Asn)
c.480G>C (p.Lys160Asn)
n.718G>C
Xg.154562890G>TCA415216443IKBKGc.813G>T (p.Lys271Asn)
c.849G>T (p.Lys283Asn)
c.447G>T (p.Lys149Asn)
c.*230G>T (n.*230G>T)
n.2246G>T
c.696G>T (p.Lys232Asn)
c.906G>T (p.Lys302Asn)
n.2249G>T
c.616-669G>T (n.616-669G>T)
c.*841G>T (n.*841G>T)
c.825G>T (p.Lys275Asn)
c.846G>T (p.Lys282Asn)
n.280G>T
c.1053G>T (p.Lys351Asn)
c.828G>T (p.Lys276Asn)
c.1050G>T (p.Lys350Asn)
c.900G>T (p.Lys300Asn)
c.693G>T (p.Lys231Asn)
c.480G>T (p.Lys160Asn)
n.718G>T
Xg.154562891C>ACA415216470IKBKGc.814C>A (p.Leu272Met)
c.850C>A (p.Leu284Met)
c.448C>A (p.Leu150Met)
c.*231C>A (n.*231C>A)
n.2247C>A
c.697C>A (p.Leu233Met)
c.907C>A (p.Leu303Met)
n.2250C>A
c.616-668C>A (n.616-668C>A)
c.*842C>A (n.*842C>A)
c.826C>A (p.Leu276Met)
c.847C>A (p.Leu283Met)
n.281C>A
c.1054C>A (p.Leu352Met)
c.829C>A (p.Leu277Met)
c.1051C>A (p.Leu351Met)
c.901C>A (p.Leu301Met)
c.694C>A (p.Leu232Met)
c.481C>A (p.Leu161Met)
n.719C>A
Xg.154562891C>GCA415216475IKBKGc.814C>G (p.Leu272Val)
c.850C>G (p.Leu284Val)
c.448C>G (p.Leu150Val)
c.*231C>G (n.*231C>G)
n.2247C>G
c.697C>G (p.Leu233Val)
c.907C>G (p.Leu303Val)
n.2250C>G
c.616-668C>G (n.616-668C>G)
c.*842C>G (n.*842C>G)
c.826C>G (p.Leu276Val)
c.847C>G (p.Leu283Val)
n.281C>G
c.1054C>G (p.Leu352Val)
c.829C>G (p.Leu277Val)
c.1051C>G (p.Leu351Val)
c.901C>G (p.Leu301Val)
c.694C>G (p.Leu232Val)
c.481C>G (p.Leu161Val)
n.719C>G
Xg.154562891C>TCA519286469IKBKGc.814C>T (p.Leu272=)
c.850C>T (p.Leu284=)
c.448C>T (p.Leu150=)
c.*231C>T (n.*231C>T)
n.2247C>T
c.697C>T (p.Leu233=)
c.907C>T (p.Leu303=)
n.2250C>T
c.616-668C>T (n.616-668C>T)
c.*842C>T (n.*842C>T)
c.826C>T (p.Leu276=)
c.847C>T (p.Leu283=)
n.281C>T
c.1054C>T (p.Leu352=)
c.829C>T (p.Leu277=)
c.1051C>T (p.Leu351=)
c.901C>T (p.Leu301=)
c.694C>T (p.Leu232=)
c.481C>T (p.Leu161=)
n.719C>T
Xg.154562892T>ACA415216482IKBKGc.815T>A (p.Leu272Gln)
c.851T>A (p.Leu284Gln)
c.449T>A (p.Leu150Gln)
c.*232T>A (n.*232T>A)
n.2248T>A
c.698T>A (p.Leu233Gln)
c.908T>A (p.Leu303Gln)
n.2251T>A
c.616-667T>A (n.616-667T>A)
c.*843T>A (n.*843T>A)
c.827T>A (p.Leu276Gln)
c.848T>A (p.Leu283Gln)
n.282T>A
c.1055T>A (p.Leu352Gln)
c.830T>A (p.Leu277Gln)
c.1052T>A (p.Leu351Gln)
c.902T>A (p.Leu301Gln)
c.695T>A (p.Leu232Gln)
c.482T>A (p.Leu161Gln)
n.720T>A
Xg.154562892T>CCA415216486IKBKGc.815T>C (p.Leu272Pro)
c.851T>C (p.Leu284Pro)
c.449T>C (p.Leu150Pro)
c.*232T>C (n.*232T>C)
n.2248T>C
c.698T>C (p.Leu233Pro)
c.908T>C (p.Leu303Pro)
n.2251T>C
c.616-667T>C (n.616-667T>C)
c.*843T>C (n.*843T>C)
c.827T>C (p.Leu276Pro)
c.848T>C (p.Leu283Pro)
n.282T>C
c.1055T>C (p.Leu352Pro)
c.830T>C (p.Leu277Pro)
c.1052T>C (p.Leu351Pro)
c.902T>C (p.Leu301Pro)
c.695T>C (p.Leu232Pro)
c.482T>C (p.Leu161Pro)
n.720T>C
gnomAD v4
Xg.154562892T>GCA415216490IKBKGc.815T>G (p.Leu272Arg)
c.851T>G (p.Leu284Arg)
c.449T>G (p.Leu150Arg)
c.*232T>G (n.*232T>G)
n.2248T>G
c.698T>G (p.Leu233Arg)
c.908T>G (p.Leu303Arg)
n.2251T>G
c.616-667T>G (n.616-667T>G)
c.*843T>G (n.*843T>G)
c.827T>G (p.Leu276Arg)
c.848T>G (p.Leu283Arg)
n.282T>G
c.1055T>G (p.Leu352Arg)
c.830T>G (p.Leu277Arg)
c.1052T>G (p.Leu351Arg)
c.902T>G (p.Leu301Arg)
c.695T>G (p.Leu232Arg)
c.482T>G (p.Leu161Arg)
n.720T>G
dbSNP gnomAD v4
Xg.154562892T=CA2466734041IKBKGc.815T= (p.Leu272=)
c.851T= (p.Leu284=)
c.449T= (p.Leu150=)
c.*232T= (n.*232T=)
n.2248T=
c.698T= (p.Leu233=)
c.908T= (p.Leu303=)
n.2251T=
c.616-667T= (n.616-667T=)
c.*843T= (n.*843T=)
c.827T= (p.Leu276=)
c.848T= (p.Leu283=)
n.282T=
c.1055T= (p.Leu352=)
c.830T= (p.Leu277=)
c.1052T= (p.Leu351=)
c.902T= (p.Leu301=)
c.695T= (p.Leu232=)
c.482T= (p.Leu161=)
n.720T=
Xg.154562893G>ACA519286470IKBKGc.816G>A (p.Leu272=)
c.852G>A (p.Leu284=)
c.450G>A (p.Leu150=)
c.*233G>A (n.*233G>A)
n.2249G>A
c.699G>A (p.Leu233=)
c.909G>A (p.Leu303=)
n.2252G>A
c.616-666G>A (n.616-666G>A)
c.*844G>A (n.*844G>A)
c.828G>A (p.Leu276=)
c.849G>A (p.Leu283=)
n.283G>A
c.1056G>A (p.Leu352=)
c.831G>A (p.Leu277=)
c.1053G>A (p.Leu351=)
c.903G>A (p.Leu301=)
c.696G>A (p.Leu232=)
c.483G>A (p.Leu161=)
n.721G>A
Xg.154562893G>CCA519286472IKBKGc.816G>C (p.Leu272=)
c.852G>C (p.Leu284=)
c.450G>C (p.Leu150=)
c.*233G>C (n.*233G>C)
n.2249G>C
c.699G>C (p.Leu233=)
c.909G>C (p.Leu303=)
n.2252G>C
c.616-666G>C (n.616-666G>C)
c.*844G>C (n.*844G>C)
c.828G>C (p.Leu276=)
c.849G>C (p.Leu283=)
n.283G>C
c.1056G>C (p.Leu352=)
c.831G>C (p.Leu277=)
c.1053G>C (p.Leu351=)
c.903G>C (p.Leu301=)
c.696G>C (p.Leu232=)
c.483G>C (p.Leu161=)
n.721G>C
Xg.154562893G>TCA519286471IKBKGc.816G>T (p.Leu272=)
c.852G>T (p.Leu284=)
c.450G>T (p.Leu150=)
c.*233G>T (n.*233G>T)
n.2249G>T
c.699G>T (p.Leu233=)
c.909G>T (p.Leu303=)
n.2252G>T
c.616-666G>T (n.616-666G>T)
c.*844G>T (n.*844G>T)
c.828G>T (p.Leu276=)
c.849G>T (p.Leu283=)
n.283G>T
c.1056G>T (p.Leu352=)
c.831G>T (p.Leu277=)
c.1053G>T (p.Leu351=)
c.903G>T (p.Leu301=)
c.696G>T (p.Leu232=)
c.483G>T (p.Leu161=)
n.721G>T
gnomAD v3 gnomAD v4
Xg.154562894A>CCA415216494IKBKGc.817A>C (p.Lys273Gln)
c.853A>C (p.Lys285Gln)
c.451A>C (p.Lys151Gln)
c.*234A>C (n.*234A>C)
n.2250A>C
c.700A>C (p.Lys234Gln)
c.910A>C (p.Lys304Gln)
n.2253A>C
c.616-665A>C (n.616-665A>C)
c.*845A>C (n.*845A>C)
c.829A>C (p.Lys277Gln)
c.850A>C (p.Lys284Gln)
n.284A>C
c.1057A>C (p.Lys353Gln)
c.832A>C (p.Lys278Gln)
c.1054A>C (p.Lys352Gln)
c.904A>C (p.Lys302Gln)
c.697A>C (p.Lys233Gln)
c.484A>C (p.Lys162Gln)
n.722A>C
Xg.154562894A>GCA415216499IKBKGc.817A>G (p.Lys273Glu)
c.853A>G (p.Lys285Glu)
c.451A>G (p.Lys151Glu)
c.*234A>G (n.*234A>G)
n.2250A>G
c.700A>G (p.Lys234Glu)
c.910A>G (p.Lys304Glu)
n.2253A>G
c.616-665A>G (n.616-665A>G)
c.*845A>G (n.*845A>G)
c.829A>G (p.Lys277Glu)
c.850A>G (p.Lys284Glu)
n.284A>G
c.1057A>G (p.Lys353Glu)
c.832A>G (p.Lys278Glu)
c.1054A>G (p.Lys352Glu)
c.904A>G (p.Lys302Glu)
c.697A>G (p.Lys233Glu)
c.484A>G (p.Lys162Glu)
n.722A>G
Xg.154562894A>TCA415216503IKBKGc.817A>T (p.Lys273Ter)
c.853A>T (p.Lys285Ter)
c.451A>T (p.Lys151Ter)
c.*234A>T (n.*234A>T)
n.2250A>T
c.700A>T (p.Lys234Ter)
c.910A>T (p.Lys304Ter)
n.2253A>T
c.616-665A>T (n.616-665A>T)
c.*845A>T (n.*845A>T)
c.829A>T (p.Lys277Ter)
c.850A>T (p.Lys284Ter)
n.284A>T
c.1057A>T (p.Lys353Ter)
c.832A>T (p.Lys278Ter)
c.1054A>T (p.Lys352Ter)
c.904A>T (p.Lys302Ter)
c.697A>T (p.Lys233Ter)
c.484A>T (p.Lys162Ter)
n.722A>T
Xg.154562895A>CCA415216511IKBKGc.818A>C (p.Lys273Thr)
c.854A>C (p.Lys285Thr)
c.452A>C (p.Lys151Thr)
c.*235A>C (n.*235A>C)
n.2251A>C
c.701A>C (p.Lys234Thr)
c.911A>C (p.Lys304Thr)
n.2254A>C
c.616-664A>C (n.616-664A>C)
c.*846A>C (n.*846A>C)
c.830A>C (p.Lys277Thr)
c.851A>C (p.Lys284Thr)
n.285A>C
c.1058A>C (p.Lys353Thr)
c.833A>C (p.Lys278Thr)
c.1055A>C (p.Lys352Thr)
c.905A>C (p.Lys302Thr)
c.698A>C (p.Lys233Thr)
c.485A>C (p.Lys162Thr)
n.723A>C
Xg.154562895A>GCA415216514IKBKGc.818A>G (p.Lys273Arg)
c.854A>G (p.Lys285Arg)
c.452A>G (p.Lys151Arg)
c.*235A>G (n.*235A>G)
n.2251A>G
c.701A>G (p.Lys234Arg)
c.911A>G (p.Lys304Arg)
n.2254A>G
c.616-664A>G (n.616-664A>G)
c.*846A>G (n.*846A>G)
c.830A>G (p.Lys277Arg)
c.851A>G (p.Lys284Arg)
n.285A>G
c.1058A>G (p.Lys353Arg)
c.833A>G (p.Lys278Arg)
c.1055A>G (p.Lys352Arg)
c.905A>G (p.Lys302Arg)
c.698A>G (p.Lys233Arg)
c.485A>G (p.Lys162Arg)
n.723A>G
gnomAD v4
Xg.154562895A>TCA415216518IKBKGc.818A>T (p.Lys273Met)
c.854A>T (p.Lys285Met)
c.452A>T (p.Lys151Met)
c.*235A>T (n.*235A>T)
n.2251A>T
c.701A>T (p.Lys234Met)
c.911A>T (p.Lys304Met)
n.2254A>T
c.616-664A>T (n.616-664A>T)
c.*846A>T (n.*846A>T)
c.830A>T (p.Lys277Met)
c.851A>T (p.Lys284Met)
n.285A>T
c.1058A>T (p.Lys353Met)
c.833A>T (p.Lys278Met)
c.1055A>T (p.Lys352Met)
c.905A>T (p.Lys302Met)
c.698A>T (p.Lys233Met)
c.485A>T (p.Lys162Met)
n.723A>T
Xg.154562901_154562903delCA2695237085IKBKGc.824_826del (p.Glu275del)
c.860_862del (p.Glu287del)
c.458_460del (p.Glu153del)
c.*241_*243del (n.*241_*243del)
n.2257_2259del
c.707_709del (p.Glu236del)
c.917_919del (p.Glu306del)
n.2260_2262del
c.616-658_616-656del (n.616-658_616-656del)
c.*852_*854del (n.*852_*854del)
c.836_838del (p.Glu279del)
c.857_859del (p.Glu286del)
c.1064_1066del (p.Glu355del)
c.839_841del (p.Glu280del)
c.1061_1063del (p.Glu354del)
c.911_913del (p.Glu304del)
c.704_706del (p.Glu235del)
c.491_493del (p.Glu164del)
n.729_731del
Xg.154562896G>ACA519286474IKBKGc.819G>A (p.Lys273=)
c.855G>A (p.Lys285=)
c.453G>A (p.Lys151=)
c.*236G>A (n.*236G>A)
n.2252G>A
c.702G>A (p.Lys234=)
c.912G>A (p.Lys304=)
n.2255G>A
c.616-663G>A (n.616-663G>A)
c.*847G>A (n.*847G>A)
c.831G>A (p.Lys277=)
c.852G>A (p.Lys284=)
c.1059G>A (p.Lys353=)
c.834G>A (p.Lys278=)
c.1056G>A (p.Lys352=)
c.906G>A (p.Lys302=)
c.699G>A (p.Lys233=)
c.486G>A (p.Lys162=)
n.724G>A
Xg.154562896G>CCA415216522IKBKGc.819G>C (p.Lys273Asn)
c.855G>C (p.Lys285Asn)
c.453G>C (p.Lys151Asn)
c.*236G>C (n.*236G>C)
n.2252G>C
c.702G>C (p.Lys234Asn)
c.912G>C (p.Lys304Asn)
n.2255G>C
c.616-663G>C (n.616-663G>C)
c.*847G>C (n.*847G>C)
c.831G>C (p.Lys277Asn)
c.852G>C (p.Lys284Asn)
c.1059G>C (p.Lys353Asn)
c.834G>C (p.Lys278Asn)
c.1056G>C (p.Lys352Asn)
c.906G>C (p.Lys302Asn)
c.699G>C (p.Lys233Asn)
c.486G>C (p.Lys162Asn)
n.724G>C
Xg.154562896G>TCA415216523IKBKGc.819G>T (p.Lys273Asn)
c.855G>T (p.Lys285Asn)
c.453G>T (p.Lys151Asn)
c.*236G>T (n.*236G>T)
n.2252G>T
c.702G>T (p.Lys234Asn)
c.912G>T (p.Lys304Asn)
n.2255G>T
c.616-663G>T (n.616-663G>T)
c.*847G>T (n.*847G>T)
c.831G>T (p.Lys277Asn)
c.852G>T (p.Lys284Asn)
c.1059G>T (p.Lys353Asn)
c.834G>T (p.Lys278Asn)
c.1056G>T (p.Lys352Asn)
c.906G>T (p.Lys302Asn)
c.699G>T (p.Lys233Asn)
c.486G>T (p.Lys162Asn)
n.724G>T
gnomAD v4
Xg.154562897G>ACA415216524IKBKGc.820G>A (p.Glu274Lys)
c.856G>A (p.Glu286Lys)
c.454G>A (p.Glu152Lys)
c.*237G>A (n.*237G>A)
n.2253G>A
c.703G>A (p.Glu235Lys)
c.913G>A (p.Glu305Lys)
n.2256G>A
c.616-662G>A (n.616-662G>A)
c.*848G>A (n.*848G>A)
c.832G>A (p.Glu278Lys)
c.853G>A (p.Glu285Lys)
c.1060G>A (p.Glu354Lys)
c.835G>A (p.Glu279Lys)
c.1057G>A (p.Glu353Lys)
c.907G>A (p.Glu303Lys)
c.700G>A (p.Glu234Lys)
c.487G>A (p.Glu163Lys)
n.725G>A
Xg.154562897G>CCA415216529IKBKGc.820G>C (p.Glu274Gln)
c.856G>C (p.Glu286Gln)
c.454G>C (p.Glu152Gln)
c.*237G>C (n.*237G>C)
n.2253G>C
c.703G>C (p.Glu235Gln)
c.913G>C (p.Glu305Gln)
n.2256G>C
c.616-662G>C (n.616-662G>C)
c.*848G>C (n.*848G>C)
c.832G>C (p.Glu278Gln)
c.853G>C (p.Glu285Gln)
c.1060G>C (p.Glu354Gln)
c.835G>C (p.Glu279Gln)
c.1057G>C (p.Glu353Gln)
c.907G>C (p.Glu303Gln)
c.700G>C (p.Glu234Gln)
c.487G>C (p.Glu163Gln)
n.725G>C
Xg.154562897G>TCA415216542IKBKGc.820G>T (p.Glu274Ter)
c.856G>T (p.Glu286Ter)
c.454G>T (p.Glu152Ter)
c.*237G>T (n.*237G>T)
n.2253G>T
c.703G>T (p.Glu235Ter)
c.913G>T (p.Glu305Ter)
n.2256G>T
c.616-662G>T (n.616-662G>T)
c.*848G>T (n.*848G>T)
c.832G>T (p.Glu278Ter)
c.853G>T (p.Glu285Ter)
c.1060G>T (p.Glu354Ter)
c.835G>T (p.Glu279Ter)
c.1057G>T (p.Glu353Ter)
c.907G>T (p.Glu303Ter)
c.700G>T (p.Glu234Ter)
c.487G>T (p.Glu163Ter)
n.725G>T
Xg.154562898A>CCA415216550IKBKGc.821A>C (p.Glu274Ala)
c.857A>C (p.Glu286Ala)
c.455A>C (p.Glu152Ala)
c.*238A>C (n.*238A>C)
n.2254A>C
c.704A>C (p.Glu235Ala)
c.914A>C (p.Glu305Ala)
n.2257A>C
c.616-661A>C (n.616-661A>C)
c.*849A>C (n.*849A>C)
c.833A>C (p.Glu278Ala)
c.854A>C (p.Glu285Ala)
c.1061A>C (p.Glu354Ala)
c.836A>C (p.Glu279Ala)
c.1058A>C (p.Glu353Ala)
c.908A>C (p.Glu303Ala)
c.701A>C (p.Glu234Ala)
c.488A>C (p.Glu163Ala)
n.726A>C
Xg.154562898A>GCA415216553IKBKGc.821A>G (p.Glu274Gly)
c.857A>G (p.Glu286Gly)
c.455A>G (p.Glu152Gly)
c.*238A>G (n.*238A>G)
n.2254A>G
c.704A>G (p.Glu235Gly)
c.914A>G (p.Glu305Gly)
n.2257A>G
c.616-661A>G (n.616-661A>G)
c.*849A>G (n.*849A>G)
c.833A>G (p.Glu278Gly)
c.854A>G (p.Glu285Gly)
c.1061A>G (p.Glu354Gly)
c.836A>G (p.Glu279Gly)
c.1058A>G (p.Glu353Gly)
c.908A>G (p.Glu303Gly)
c.701A>G (p.Glu234Gly)
c.488A>G (p.Glu163Gly)
n.726A>G
gnomAD v3 gnomAD v4
Xg.154562898A>TCA415216555IKBKGc.821A>T (p.Glu274Val)
c.857A>T (p.Glu286Val)
c.455A>T (p.Glu152Val)
c.*238A>T (n.*238A>T)
n.2254A>T
c.704A>T (p.Glu235Val)
c.914A>T (p.Glu305Val)
n.2257A>T
c.616-661A>T (n.616-661A>T)
c.*849A>T (n.*849A>T)
c.833A>T (p.Glu278Val)
c.854A>T (p.Glu285Val)
c.1061A>T (p.Glu354Val)
c.836A>T (p.Glu279Val)
c.1058A>T (p.Glu353Val)
c.908A>T (p.Glu303Val)
c.701A>T (p.Glu234Val)
c.488A>T (p.Glu163Val)
n.726A>T
gnomAD v4
Xg.154562899G>ACA519286475IKBKGc.822G>A (p.Glu274=)
c.858G>A (p.Glu286=)
c.456G>A (p.Glu152=)
c.*239G>A (n.*239G>A)
n.2255G>A
c.705G>A (p.Glu235=)
c.915G>A (p.Glu305=)
n.2258G>A
c.616-660G>A (n.616-660G>A)
c.*850G>A (n.*850G>A)
c.834G>A (p.Glu278=)
c.855G>A (p.Glu285=)
c.1062G>A (p.Glu354=)
c.837G>A (p.Glu279=)
c.1059G>A (p.Glu353=)
c.909G>A (p.Glu303=)
c.702G>A (p.Glu234=)
c.489G>A (p.Glu163=)
n.727G>A
gnomAD v4
Xg.154562899G>CCA415216561IKBKGc.822G>C (p.Glu274Asp)
c.858G>C (p.Glu286Asp)
c.456G>C (p.Glu152Asp)
c.*239G>C (n.*239G>C)
n.2255G>C
c.705G>C (p.Glu235Asp)
c.915G>C (p.Glu305Asp)
n.2258G>C
c.616-660G>C (n.616-660G>C)
c.*850G>C (n.*850G>C)
c.834G>C (p.Glu278Asp)
c.855G>C (p.Glu285Asp)
c.1062G>C (p.Glu354Asp)
c.837G>C (p.Glu279Asp)
c.1059G>C (p.Glu353Asp)
c.909G>C (p.Glu303Asp)
c.702G>C (p.Glu234Asp)
c.489G>C (p.Glu163Asp)
n.727G>C
Xg.154562899G>TCA415216565IKBKGc.822G>T (p.Glu274Asp)
c.858G>T (p.Glu286Asp)
c.456G>T (p.Glu152Asp)
c.*239G>T (n.*239G>T)
n.2255G>T
c.705G>T (p.Glu235Asp)
c.915G>T (p.Glu305Asp)
n.2258G>T
c.616-660G>T (n.616-660G>T)
c.*850G>T (n.*850G>T)
c.834G>T (p.Glu278Asp)
c.855G>T (p.Glu285Asp)
c.1062G>T (p.Glu354Asp)
c.837G>T (p.Glu279Asp)
c.1059G>T (p.Glu353Asp)
c.909G>T (p.Glu303Asp)
c.702G>T (p.Glu234Asp)
c.489G>T (p.Glu163Asp)
n.727G>T
gnomAD v4
Xg.154562900G>ACA415216572IKBKGc.823G>A (p.Glu275Lys)
c.859G>A (p.Glu287Lys)
c.457G>A (p.Glu153Lys)
c.*240G>A (n.*240G>A)
n.2256G>A
c.706G>A (p.Glu236Lys)
c.916G>A (p.Glu306Lys)
n.2259G>A
c.616-659G>A (n.616-659G>A)
c.*851G>A (n.*851G>A)
c.835G>A (p.Glu279Lys)
c.856G>A (p.Glu286Lys)
c.1063G>A (p.Glu355Lys)
c.838G>A (p.Glu280Lys)
c.1060G>A (p.Glu354Lys)
c.910G>A (p.Glu304Lys)
c.703G>A (p.Glu235Lys)
c.490G>A (p.Glu164Lys)
n.728G>A
Xg.154562900G>CCA415216575IKBKGc.823G>C (p.Glu275Gln)
c.859G>C (p.Glu287Gln)
c.457G>C (p.Glu153Gln)
c.*240G>C (n.*240G>C)
n.2256G>C
c.706G>C (p.Glu236Gln)
c.916G>C (p.Glu306Gln)
n.2259G>C
c.616-659G>C (n.616-659G>C)
c.*851G>C (n.*851G>C)
c.835G>C (p.Glu279Gln)
c.856G>C (p.Glu286Gln)
c.1063G>C (p.Glu355Gln)
c.838G>C (p.Glu280Gln)
c.1060G>C (p.Glu354Gln)
c.910G>C (p.Glu304Gln)
c.703G>C (p.Glu235Gln)
c.490G>C (p.Glu164Gln)
n.728G>C
Xg.154562900G>TCA415216579IKBKGc.823G>T (p.Glu275Ter)
c.859G>T (p.Glu287Ter)
c.457G>T (p.Glu153Ter)
c.*240G>T (n.*240G>T)
n.2256G>T
c.706G>T (p.Glu236Ter)
c.916G>T (p.Glu306Ter)
n.2259G>T
c.616-659G>T (n.616-659G>T)
c.*851G>T (n.*851G>T)
c.835G>T (p.Glu279Ter)
c.856G>T (p.Glu286Ter)
c.1063G>T (p.Glu355Ter)
c.838G>T (p.Glu280Ter)
c.1060G>T (p.Glu354Ter)
c.910G>T (p.Glu304Ter)
c.703G>T (p.Glu235Ter)
c.490G>T (p.Glu164Ter)
n.728G>T
Xg.154562901A>CCA415216592IKBKGc.824A>C (p.Glu275Ala)
c.860A>C (p.Glu287Ala)
c.458A>C (p.Glu153Ala)
c.*241A>C (n.*241A>C)
n.2257A>C
c.707A>C (p.Glu236Ala)
c.917A>C (p.Glu306Ala)
n.2260A>C
c.616-658A>C (n.616-658A>C)
c.*852A>C (n.*852A>C)
c.836A>C (p.Glu279Ala)
c.857A>C (p.Glu286Ala)
c.1064A>C (p.Glu355Ala)
c.839A>C (p.Glu280Ala)
c.1061A>C (p.Glu354Ala)
c.911A>C (p.Glu304Ala)
c.704A>C (p.Glu235Ala)
c.491A>C (p.Glu164Ala)
n.729A>C
Xg.154562901A>GCA415216586IKBKGc.824A>G (p.Glu275Gly)
c.860A>G (p.Glu287Gly)
c.458A>G (p.Glu153Gly)
c.*241A>G (n.*241A>G)
n.2257A>G
c.707A>G (p.Glu236Gly)
c.917A>G (p.Glu306Gly)
n.2260A>G
c.616-658A>G (n.616-658A>G)
c.*852A>G (n.*852A>G)
c.836A>G (p.Glu279Gly)
c.857A>G (p.Glu286Gly)
c.1064A>G (p.Glu355Gly)
c.839A>G (p.Glu280Gly)
c.1061A>G (p.Glu354Gly)
c.911A>G (p.Glu304Gly)
c.704A>G (p.Glu235Gly)
c.491A>G (p.Glu164Gly)
n.729A>G
gnomAD v4
Xg.154562901A>TCA415216589IKBKGc.824A>T (p.Glu275Val)
c.860A>T (p.Glu287Val)
c.458A>T (p.Glu153Val)
c.*241A>T (n.*241A>T)
n.2257A>T
c.707A>T (p.Glu236Val)
c.917A>T (p.Glu306Val)
n.2260A>T
c.616-658A>T (n.616-658A>T)
c.*852A>T (n.*852A>T)
c.836A>T (p.Glu279Val)
c.857A>T (p.Glu286Val)
c.1064A>T (p.Glu355Val)
c.839A>T (p.Glu280Val)
c.1061A>T (p.Glu354Val)
c.911A>T (p.Glu304Val)
c.704A>T (p.Glu235Val)
c.491A>T (p.Glu164Val)
n.729A>T
gnomAD v4
Xg.154562902G>ACA519286476IKBKGc.825G>A (p.Glu275=)
c.861G>A (p.Glu287=)
c.459G>A (p.Glu153=)
c.*242G>A (n.*242G>A)
n.2258G>A
c.708G>A (p.Glu236=)
c.918G>A (p.Glu306=)
n.2261G>A
c.616-657G>A (n.616-657G>A)
c.*853G>A (n.*853G>A)
c.837G>A (p.Glu279=)
c.858G>A (p.Glu286=)
c.1065G>A (p.Glu355=)
c.840G>A (p.Glu280=)
c.1062G>A (p.Glu354=)
c.912G>A (p.Glu304=)
c.705G>A (p.Glu235=)
c.492G>A (p.Glu164=)
n.730G>A
dbSNP gnomAD v3 gnomAD v4
Xg.154562902G>CCA415216599IKBKGc.825G>C (p.Glu275Asp)
c.861G>C (p.Glu287Asp)
c.459G>C (p.Glu153Asp)
c.*242G>C (n.*242G>C)
n.2258G>C
c.708G>C (p.Glu236Asp)
c.918G>C (p.Glu306Asp)
n.2261G>C
c.616-657G>C (n.616-657G>C)
c.*853G>C (n.*853G>C)
c.837G>C (p.Glu279Asp)
c.858G>C (p.Glu286Asp)
c.1065G>C (p.Glu355Asp)
c.840G>C (p.Glu280Asp)
c.1062G>C (p.Glu354Asp)
c.912G>C (p.Glu304Asp)
c.705G>C (p.Glu235Asp)
c.492G>C (p.Glu164Asp)
n.730G>C
Xg.154562902G=CA2466734043IKBKGc.825G= (p.Glu275=)
c.861G= (p.Glu287=)
c.459G= (p.Glu153=)
c.*242G= (n.*242G=)
n.2258G=
c.708G= (p.Glu236=)
c.918G= (p.Glu306=)
n.2261G=
c.616-657G= (n.616-657G=)
c.*853G= (n.*853G=)
c.837G= (p.Glu279=)
c.858G= (p.Glu286=)
c.1065G= (p.Glu355=)
c.840G= (p.Glu280=)
c.1062G= (p.Glu354=)
c.912G= (p.Glu304=)
c.705G= (p.Glu235=)
c.492G= (p.Glu164=)
n.730G=
Xg.154562902G>TCA415216604IKBKGc.825G>T (p.Glu275Asp)
c.861G>T (p.Glu287Asp)
c.459G>T (p.Glu153Asp)
c.*242G>T (n.*242G>T)
n.2258G>T
c.708G>T (p.Glu236Asp)
c.918G>T (p.Glu306Asp)
n.2261G>T
c.616-657G>T (n.616-657G>T)
c.*853G>T (n.*853G>T)
c.837G>T (p.Glu279Asp)
c.858G>T (p.Glu286Asp)
c.1065G>T (p.Glu355Asp)
c.840G>T (p.Glu280Asp)
c.1062G>T (p.Glu354Asp)
c.912G>T (p.Glu304Asp)
c.705G>T (p.Glu235Asp)
c.492G>T (p.Glu164Asp)
n.730G>T
Xg.154562903G>ACA415216611IKBKGc.826G>A (p.Ala276Thr)
c.862G>A (p.Ala288Thr)
c.460G>A (p.Ala154Thr)
c.*243G>A (n.*243G>A)
n.2259G>A
c.709G>A (p.Ala237Thr)
c.919G>A (p.Ala307Thr)
n.2262G>A
c.616-656G>A (n.616-656G>A)
c.*854G>A (n.*854G>A)
c.838G>A (p.Ala280Thr)
c.859G>A (p.Ala287Thr)
c.1066G>A (p.Ala356Thr)
c.841G>A (p.Ala281Thr)
c.1063G>A (p.Ala355Thr)
c.913G>A (p.Ala305Thr)
c.706G>A (p.Ala236Thr)
c.493G>A (p.Ala165Thr)
n.731G>A
gnomAD v4
Xg.154562903G>CCA415216631IKBKGc.826G>C (p.Ala276Pro)
c.862G>C (p.Ala288Pro)
c.460G>C (p.Ala154Pro)
c.*243G>C (n.*243G>C)
n.2259G>C
c.709G>C (p.Ala237Pro)
c.919G>C (p.Ala307Pro)
n.2262G>C
c.616-656G>C (n.616-656G>C)
c.*854G>C (n.*854G>C)
c.838G>C (p.Ala280Pro)
c.859G>C (p.Ala287Pro)
c.1066G>C (p.Ala356Pro)
c.841G>C (p.Ala281Pro)
c.1063G>C (p.Ala355Pro)
c.913G>C (p.Ala305Pro)
c.706G>C (p.Ala236Pro)
c.493G>C (p.Ala165Pro)
n.731G>C
Xg.154562903G>TCA415216635IKBKGc.826G>T (p.Ala276Ser)
c.862G>T (p.Ala288Ser)
c.460G>T (p.Ala154Ser)
c.*243G>T (n.*243G>T)
n.2259G>T
c.709G>T (p.Ala237Ser)
c.919G>T (p.Ala307Ser)
n.2262G>T
c.616-656G>T (n.616-656G>T)
c.*854G>T (n.*854G>T)
c.838G>T (p.Ala280Ser)
c.859G>T (p.Ala287Ser)
c.1066G>T (p.Ala356Ser)
c.841G>T (p.Ala281Ser)
c.1063G>T (p.Ala355Ser)
c.913G>T (p.Ala305Ser)
c.706G>T (p.Ala236Ser)
c.493G>T (p.Ala165Ser)
n.731G>T
Xg.154562904C>ACA415216639IKBKGc.827C>A (p.Ala276Asp)
c.863C>A (p.Ala288Asp)
c.461C>A (p.Ala154Asp)
c.*244C>A (n.*244C>A)
n.2260C>A
c.710C>A (p.Ala237Asp)
c.920C>A (p.Ala307Asp)
n.2263C>A
c.616-655C>A (n.616-655C>A)
c.*855C>A (n.*855C>A)
c.839C>A (p.Ala280Asp)
c.860C>A (p.Ala287Asp)
c.1067C>A (p.Ala356Asp)
c.842C>A (p.Ala281Asp)
c.1064C>A (p.Ala355Asp)
c.914C>A (p.Ala305Asp)
c.707C>A (p.Ala236Asp)
c.494C>A (p.Ala165Asp)
n.732C>A
Xg.154562904C=CA2466734046IKBKGc.827C= (p.Ala276=)
c.863C= (p.Ala288=)
c.461C= (p.Ala154=)
c.*244C= (n.*244C=)
n.2260C=
c.710C= (p.Ala237=)
c.920C= (p.Ala307=)
n.2263C=
c.616-655C= (n.616-655C=)
c.*855C= (n.*855C=)
c.839C= (p.Ala280=)
c.860C= (p.Ala287=)
c.1067C= (p.Ala356=)
c.842C= (p.Ala281=)
c.1064C= (p.Ala355=)
c.914C= (p.Ala305=)
c.707C= (p.Ala236=)
c.494C= (p.Ala165=)
n.732C=
Xg.154562904C>GCA121488IKBKGc.827C>G (p.Ala276Gly)
c.863C>G (p.Ala288Gly)
c.461C>G (p.Ala154Gly)
c.*244C>G (n.*244C>G)
n.2260C>G
c.710C>G (p.Ala237Gly)
c.920C>G (p.Ala307Gly)
n.2263C>G
c.616-655C>G (n.616-655C>G)
c.*855C>G (n.*855C>G)
c.839C>G (p.Ala280Gly)
c.860C>G (p.Ala287Gly)
c.1067C>G (p.Ala356Gly)
c.842C>G (p.Ala281Gly)
c.1064C>G (p.Ala355Gly)
c.914C>G (p.Ala305Gly)
c.707C>G (p.Ala236Gly)
c.494C>G (p.Ala165Gly)
n.732C>G
ClinVar dbSNP
Xg.154562904C>TCA415216643IKBKGc.827C>T (p.Ala276Val)
c.863C>T (p.Ala288Val)
c.461C>T (p.Ala154Val)
c.*244C>T (n.*244C>T)
n.2260C>T
c.710C>T (p.Ala237Val)
c.920C>T (p.Ala307Val)
n.2263C>T
c.616-655C>T (n.616-655C>T)
c.*855C>T (n.*855C>T)
c.839C>T (p.Ala280Val)
c.860C>T (p.Ala287Val)
c.1067C>T (p.Ala356Val)
c.842C>T (p.Ala281Val)
c.1064C>T (p.Ala355Val)
c.914C>T (p.Ala305Val)
c.707C>T (p.Ala236Val)
c.494C>T (p.Ala165Val)
n.732C>T
gnomAD v4

Number of alleles fetched