Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154556172_154563959del | CA1139532681 | IKBKG | c.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 | |
X | g.154558532_154564461del | CA2580617548 | IKBKG | c.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 | |
X | g.154562791_154562804del | CA1138590682 | IKBKG | c.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 |
X | g.154562807T>G | CA2526777943 | IKBKG | c.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 |
X | g.154562808A>C | CA415215858 | IKBKG | c.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 |
X | g.154562808A>G | CA415215860 | IKBKG | c.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 |
X | g.154562808A>T | CA415215867 | IKBKG | c.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 | |
X | g.154562809G>A | CA415215871 | IKBKG | c.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 | |
X | g.154562809G>C | CA415215877 | IKBKG | c.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 | |
X | g.154562809G>T | CA415215873 | IKBKG | c.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 | |
X | g.154562810G>A | CA415215883 | IKBKG | c.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 | |
X | g.154562810G>C | CA415215887 | IKBKG | c.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 | |
X | g.154562810G>T | CA415215885 | IKBKG | c.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 | |
X | g.154562811G>A | CA415215894 | IKBKG | c.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 | |
X | g.154562811G>C | CA415215898 | IKBKG | c.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 | |
X | g.154562811G>T | CA415215900 | IKBKG | c.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 | |
X | g.154562812A>C | CA519286338 | IKBKG | c.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 |
X | g.154562812A>G | CA519286340 | IKBKG | c.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 | |
X | g.154562812A>T | CA519286341 | IKBKG | c.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 |
X | g.154562813A= | CA2466733992 | IKBKG | c.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= | |
X | g.154562813A>C | CA415215903 | IKBKG | c.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 |
X | g.154562813A>G | CA415215904 | IKBKG | c.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 |
X | g.154562813A>T | CA415215907 | IKBKG | c.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 | |
X | g.154562814T>A | CA415215911 | IKBKG | c.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 | |
X | g.154562814T>C | CA415215913 | IKBKG | c.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 |
X | g.154562814T>G | CA415215917 | IKBKG | c.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 | |
X | g.154562815G>A | CA415215926 | IKBKG | c.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 | |
X | g.154562815G>C | CA415215924 | IKBKG | c.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 | |
X | g.154562815G>T | CA415215921 | IKBKG | c.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 |
X | g.154562816C>A | CA415215929 | IKBKG | c.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 | |
X | g.154562816C>G | CA415215930 | IKBKG | c.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 | |
X | g.154562816C>T | CA415215932 | IKBKG | c.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 |
X | g.154562817A>C | CA415215934 | IKBKG | c.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 | |
X | g.154562817A>G | CA415215935 | IKBKG | c.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 | |
X | g.154562817A>T | CA415215937 | IKBKG | c.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 | |
X | g.154562818G>A | CA519286347 | IKBKG | c.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 | |
X | g.154562818G>C | CA415215943 | IKBKG | c.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 | |
X | g.154562818G>T | CA415215950 | IKBKG | c.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 | |
X | g.154562819C>A | CA415215954 | IKBKG | c.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 | |
X | g.154562819C>G | CA415215957 | IKBKG | c.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 | |
X | g.154562819C>T | CA519286349 | IKBKG | c.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 | |
X | g.154562820T>A | CA415215968 | IKBKG | c.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 | |
X | g.154562820T>C | CA415215967 | IKBKG | c.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 | |
X | g.154562820T>G | CA415215961 | IKBKG | c.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 | |
X | g.154562821G>A | CA519286354 | IKBKG | c.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 |
X | g.154562821G>C | CA519286353 | IKBKG | c.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 | |
X | g.154562821G>T | CA519286352 | IKBKG | c.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 | |
X | g.154562822G>A | CA415215972 | IKBKG | c.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 | |
X | g.154562822G>C | CA415215975 | IKBKG | c.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 | |
X | g.154562822G>T | CA415215979 | IKBKG | c.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 | |
X | g.154562823A>C | CA415215983 | IKBKG | c.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 | |
X | g.154562823A>G | CA415215985 | IKBKG | c.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 | |
X | g.154562823A>T | CA415215988 | IKBKG | c.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 | |
X | g.154562824A>C | CA415215992 | IKBKG | c.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 | |
X | g.154562824A>G | CA519286360 | IKBKG | c.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 | |
X | g.154562824A>T | CA415215994 | IKBKG | c.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 | |
X | g.154562825G>A | CA415215998 | IKBKG | c.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 | |
X | g.154562825G>C | CA415216001 | IKBKG | c.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 | |
X | g.154562825G= | CA2466733994 | IKBKG | c.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= | |
X | g.154562825G>T | CA415216005 | IKBKG | c.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 |
X | g.154562826A>C | CA415216016 | IKBKG | c.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 | |
X | g.154562826A>G | CA415216009 | IKBKG | c.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 | |
X | g.154562826A>T | CA415216013 | IKBKG | c.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 | |
X | g.154562827T>A | CA415216019 | IKBKG | c.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 |
X | g.154562827T>C | CA519286366 | IKBKG | c.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 | |
X | g.154562827T>G | CA415216021 | IKBKG | c.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 | |
X | g.154562827T= | CA2466733997 | IKBKG | c.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= | |
X | g.154562828C>A | CA415216026 | IKBKG | c.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 | |
X | g.154562828C>G | CA415216027 | IKBKG | c.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 |
X | g.154562828C>T | CA415216030 | IKBKG | c.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 |
X | g.154562829T>A | CA415216034 | IKBKG | c.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 | |
X | g.154562829T>C | CA415216036 | IKBKG | c.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 | |
X | g.154562829T>G | CA415216039 | IKBKG | c.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 | |
X | g.154562830C>A | CA519286371 | IKBKG | c.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 | |
X | g.154562830C= | CA2466734001 | IKBKG | c.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= | |
X | g.154562830C>G | CA519286372 | IKBKG | c.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 | |
X | g.154562830C>T | CA519286374 | IKBKG | c.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 | |
X | g.154562831A>C | CA415216045 | IKBKG | c.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 | |
X | g.154562831A>G | CA415216046 | IKBKG | c.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 | |
X | g.154562831A>T | CA415216050 | IKBKG | c.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 |
X | g.154562833dup | CA658659076 | IKBKG | c.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 |
X | g.154562832A>C | CA415216057 | IKBKG | c.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 | |
X | g.154562832A>G | CA415216060 | IKBKG | c.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 | |
X | g.154562832A>T | CA415216054 | IKBKG | c.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 | |
X | g.154562833A>C | CA415216064 | IKBKG | c.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 | |
X | g.154562833A>G | CA519286375 | IKBKG | c.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 | |
X | g.154562833A>T | CA415216067 | IKBKG | c.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 | |
X | g.154562834C>A | CA415216072 | IKBKG | c.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 | |
X | g.154562834C>G | CA415216079 | IKBKG | c.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 | |
X | g.154562834C>T | CA415216082 | IKBKG | c.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 | |
X | g.154562835A= | CA2466734009 | IKBKG | c.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= | |
X | g.154562835A>C | CA415216090 | IKBKG | c.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 | |
X | g.154562835A>G | CA415216085 | IKBKG | c.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 |
X | g.154562835A>T | CA415216088 | IKBKG | c.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 | |
X | g.154562836G>A | CA519286380 | IKBKG | c.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 | |
X | g.154562836G>C | CA415216093 | IKBKG | c.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 | |
X | g.154562836G>T | CA415216094 | IKBKG | c.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 | |
X | g.154562837C>A | CA415216095 | IKBKG | c.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 | |
X | g.154562837C>G | CA415216096 | IKBKG | c.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 | |
X | g.154562837C>T | CA415216097 | IKBKG | c.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 | |
X | g.154562838A= | CA2466734012 | IKBKG | c.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= | |
X | g.154562838A>C | CA415216098 | IKBKG | c.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 |
X | g.154562838A>G | CA415216100 | IKBKG | c.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 |
X | g.154562838A>T | CA415216099 | IKBKG | c.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 | |
X | g.154562839G>A | CA519286388 | IKBKG | c.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 | |
X | g.154562839G>C | CA415216101 | IKBKG | c.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 | |
X | g.154562839G>T | CA415216102 | IKBKG | c.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 | |
X | g.154562840C>A | CA415216103 | IKBKG | c.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 | |
X | g.154562840C>G | CA415216104 | IKBKG | c.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 | |
X | g.154562840C>T | CA415216105 | IKBKG | c.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 | |
X | g.154562841T>A | CA415216106 | IKBKG | c.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 | |
X | g.154562841T>C | CA415216107 | IKBKG | c.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 | |
X | g.154562841T>G | CA415216108 | IKBKG | c.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 | |
X | g.154562842C>A | CA519286395 | IKBKG | c.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 |
X | g.154562842C= | CA2466734017 | IKBKG | c.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= | |
X | g.154562842C>G | CA519286398 | IKBKG | c.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 | |
X | g.154562842C>T | CA519286396 | IKBKG | c.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 |
X | g.154562843C>A | CA415216109 | IKBKG | c.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 | |
X | g.154562843C>G | CA415216110 | IKBKG | c.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 | |
X | g.154562843C>T | CA415216111 | IKBKG | c.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 | |
X | g.154562844A>C | CA415216114 | IKBKG | c.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 |
X | g.154562844A>G | CA415216112 | IKBKG | c.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 | |
X | g.154562844A>T | CA415216113 | IKBKG | c.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 | |
X | g.154562845G>A | CA519286402 | IKBKG | c.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 | |
X | g.154562845G>C | CA415216115 | IKBKG | c.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 | |
X | g.154562845G>T | CA415216116 | IKBKG | c.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 | |
X | g.154562846C>A | CA415216117 | IKBKG | c.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 | |
X | g.154562846C>G | CA415216118 | IKBKG | c.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 | |
X | g.154562846C>T | CA415216120 | IKBKG | c.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 |
X | g.154562847A>C | CA415216122 | IKBKG | c.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 | |
X | g.154562847A>G | CA415216124 | IKBKG | c.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 | |
X | g.154562847A>T | CA415216125 | IKBKG | c.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 | |
X | g.154562847_154562865delinsAGGCCGAGGAGGCCCTGGT | CA2466734021 | IKBKG | c.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 | |
X | g.154562848G>A | CA519286408 | IKBKG | c.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 | |
X | g.154562848G>C | CA415216127 | IKBKG | c.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 | |
X | g.154562848G>T | CA415216129 | IKBKG | c.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 | |
X | g.154562852_154562869del | CA1139667924 | IKBKG | c.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 |
X | g.154562849G>A | CA415216130 | IKBKG | c.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 |
X | g.154562849G>C | CA415216131 | IKBKG | c.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 | |
X | g.154562849G>T | CA415216133 | IKBKG | c.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 | |
X | g.154562850C>A | CA415216139 | IKBKG | c.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 | |
X | g.154562850C>G | CA415216135 | IKBKG | c.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 |
X | g.154562850C>T | CA415216137 | IKBKG | c.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 | |
X | g.154562851C>A | CA519286417 | IKBKG | c.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 | |
X | g.154562851C= | CA2466734026 | IKBKG | c.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= | |
X | g.154562851C>G | CA519286416 | IKBKG | c.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 | |
X | g.154562851C>T | CA519286415 | IKBKG | c.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 |
X | g.154562852G>A | CA415216142 | IKBKG | c.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 |
X | g.154562852G>C | CA415216144 | IKBKG | c.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 |
X | g.154562852G>T | CA415216146 | IKBKG | c.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 | |
X | g.154562853A>C | CA415216148 | IKBKG | c.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 | |
X | g.154562853A>G | CA415216149 | IKBKG | c.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 | |
X | g.154562853A>T | CA415216151 | IKBKG | c.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 | |
X | g.154562854G>A | CA519286421 | IKBKG | c.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 | |
X | g.154562854G>C | CA415216153 | IKBKG | c.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 | |
X | g.154562854G>T | CA415216155 | IKBKG | c.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 | |
X | g.154562855G>A | CA415216156 | IKBKG | c.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 | |
X | g.154562855G>C | CA415216157 | IKBKG | c.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 | |
X | g.154562855G>T | CA415216159 | IKBKG | c.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 | |
X | g.154562856A>C | CA415216166 | IKBKG | c.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 | |
X | g.154562856A>G | CA415216169 | IKBKG | c.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 | |
X | g.154562856A>T | CA415216168 | IKBKG | c.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 | |
X | g.154562857G>A | CA519286426 | IKBKG | c.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 | |
X | g.154562857G>C | CA415216172 | IKBKG | c.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 | |
X | g.154562857G>T | CA415216173 | IKBKG | c.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 | |
X | g.154562858G>A | CA415216175 | IKBKG | c.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 |
X | g.154562858G>C | CA415216178 | IKBKG | c.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 | |
X | g.154562858G>T | CA415216180 | IKBKG | c.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 | |
X | g.154562859C>A | CA415216182 | IKBKG | c.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 | |
X | g.154562859C>G | CA415216184 | IKBKG | c.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 | |
X | g.154562859C>T | CA415216186 | IKBKG | c.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 | |
X | g.154562860C>A | CA519286431 | IKBKG | c.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 | |
X | g.154562860C>G | CA519286432 | IKBKG | c.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 | |
X | g.154562860C>T | CA519286433 | IKBKG | c.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 | |
X | g.154562861C>A | CA415216188 | IKBKG | c.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 | |
X | g.154562861C>G | CA415216190 | IKBKG | c.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 | |
X | g.154562861C>T | CA519286435 | IKBKG | c.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 | |
X | g.154562862T>A | CA415216193 | IKBKG | c.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 | |
X | g.154562862T>C | CA415216194 | IKBKG | c.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 | |
X | g.154562862T>G | CA415216196 | IKBKG | c.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 | |
X | g.154562863G>A | CA519286438 | IKBKG | c.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 | |
X | g.154562863G>C | CA519286439 | IKBKG | c.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 | |
X | g.154562863G>T | CA519286440 | IKBKG | c.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 | |
X | g.154562864G>A | CA415216198 | IKBKG | c.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 | |
X | g.154562864G>C | CA415216201 | IKBKG | c.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 |
X | g.154562864G>T | CA415216200 | IKBKG | c.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 | |
X | g.154562865T>A | CA415216203 | IKBKG | c.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 | |
X | g.154562865T>C | CA415216205 | IKBKG | c.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 | |
X | g.154562865T>G | CA415216209 | IKBKG | c.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 | |
X | g.154562866G>A | CA519286442 | IKBKG | c.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 | |
X | g.154562866G>C | CA519286443 | IKBKG | c.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 | |
X | g.154562866G>T | CA519286445 | IKBKG | c.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 | |
X | g.154562867G>A | CA415216213 | IKBKG | c.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 |
X | g.154562867G>C | CA415216215 | IKBKG | c.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 | |
X | g.154562867G>T | CA415216224 | IKBKG | c.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 | |
X | g.154562868C>A | CA415216233 | IKBKG | c.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 | |
X | g.154562868C= | CA2466734028 | IKBKG | c.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= | |
X | g.154562868C>G | CA415216242 | IKBKG | c.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 | |
X | g.154562868C>T | CA415216246 | IKBKG | c.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 |
X | g.154562869C>A | CA519286448 | IKBKG | c.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 | |
X | g.154562869C= | CA2466734038 | IKBKG | c.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= | |
X | g.154562869C>G | CA519286449 | IKBKG | c.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 | |
X | g.154562869C>T | CA519286450 | IKBKG | c.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 |
X | g.154562870A>C | CA415216253 | IKBKG | c.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 | |
X | g.154562870A>G | CA415216260 | IKBKG | c.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 | |
X | g.154562870A>T | CA415216249 | IKBKG | c.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 | |
X | g.154562871A>C | CA415216264 | IKBKG | c.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 | |
X | g.154562871A>G | CA415216267 | IKBKG | c.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 | |
X | g.154562871A>T | CA415216269 | IKBKG | c.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 | |
X | g.154562872A>C | CA415216270 | IKBKG | c.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 | |
X | g.154562872A>G | CA519286451 | IKBKG | c.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 |
X | g.154562872A>T | CA415216271 | IKBKG | c.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 | |
X | g.154562873C>A | CA415216277 | IKBKG | c.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 | |
X | g.154562873C>G | CA415216273 | IKBKG | c.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 | |
X | g.154562873C>T | CA415216275 | IKBKG | c.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 | |
X | g.154562874A>C | CA415216279 | IKBKG | c.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 | |
X | g.154562874A>G | CA415216282 | IKBKG | c.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 | |
X | g.154562874A>T | CA415216285 | IKBKG | c.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 | |
X | g.154562877_154562879del | CA2580612533 | IKBKG | c.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 |
X | g.154562875G>A | CA519286456 | IKBKG | c.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 | |
X | g.154562875G>C | CA415216289 | IKBKG | c.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 | |
X | g.154562875G>T | CA415216290 | IKBKG | c.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 | |
X | g.154562876G>A | CA415216294 | IKBKG | c.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 | |
X | g.154562876G>C | CA415216299 | IKBKG | c.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 | |
X | g.154562876G>T | CA415216296 | IKBKG | c.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 | |
X | g.154562877A>C | CA415216302 | IKBKG | c.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 | |
X | g.154562877A>G | CA415216303 | IKBKG | c.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 | |
X | g.154562877A>T | CA415216307 | IKBKG | c.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 | |
X | g.154562878G>A | CA519286458 | IKBKG | c.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 |
X | g.154562878G>C | CA415216311 | IKBKG | c.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 | |
X | g.154562878G>T | CA415216315 | IKBKG | c.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 | |
X | g.154562879G>A | CA415216319 | IKBKG | c.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 | |
X | g.154562879G>C | CA415216324 | IKBKG | c.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 | |
X | g.154562879G>T | CA415216327 | IKBKG | c.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 | |
X | g.154562880T>A | CA415216332 | IKBKG | c.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 |
X | g.154562880T>C | CA415216336 | IKBKG | c.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 | |
X | g.154562880T>G | CA415216342 | IKBKG | c.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 |
X | g.154562881G>A | CA519286460 | IKBKG | c.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 | |
X | g.154562881G>C | CA519286461 | IKBKG | c.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 | |
X | g.154562881G>T | CA519286462 | IKBKG | c.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 | |
X | g.154562882A>C | CA415216351 | IKBKG | c.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 | |
X | g.154562882A>G | CA415216357 | IKBKG | c.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 | |
X | g.154562882A>T | CA415216347 | IKBKG | c.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 | |
X | g.154562883T>A | CA415216363 | IKBKG | c.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 | |
X | g.154562883T>C | CA415216359 | IKBKG | c.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 | |
X | g.154562883T>G | CA415216374 | IKBKG | c.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 | |
X | g.154562884C>A | CA519286464 | IKBKG | c.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 |
X | g.154562884C>G | CA415216380 | IKBKG | c.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 | |
X | g.154562884C>T | CA519286465 | IKBKG | c.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 |
X | g.154562885G>A | CA415216390 | IKBKG | c.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 |
X | g.154562885G>C | CA415216385 | IKBKG | c.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 | |
X | g.154562885G>T | CA415216393 | IKBKG | c.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 | |
X | g.154562886A>C | CA415216397 | IKBKG | c.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 | |
X | g.154562886A>G | CA415216400 | IKBKG | c.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 | |
X | g.154562886A>T | CA415216406 | IKBKG | c.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 | |
X | g.154562887T>A | CA415216411 | IKBKG | c.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 | |
X | g.154562887T>C | CA519286467 | IKBKG | c.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 | |
X | g.154562887T>G | CA415216414 | IKBKG | c.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 | |
X | g.154562888A>C | CA415216419 | IKBKG | c.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 | |
X | g.154562888A>G | CA415216423 | IKBKG | c.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 | |
X | g.154562888A>T | CA415216426 | IKBKG | c.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 | |
X | g.154562889A= | CA2466734040 | IKBKG | c.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= | |
X | g.154562889A>C | CA415216433 | IKBKG | c.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 | |
X | g.154562889A>G | CA415216439 | IKBKG | c.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 |
X | g.154562889A>T | CA415216442 | IKBKG | c.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 | |
X | g.154562890G>A | CA519286468 | IKBKG | c.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 | |
X | g.154562890G>C | CA415216445 | IKBKG | c.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 | |
X | g.154562890G>T | CA415216443 | IKBKG | c.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 | |
X | g.154562891C>A | CA415216470 | IKBKG | c.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 | |
X | g.154562891C>G | CA415216475 | IKBKG | c.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 | |
X | g.154562891C>T | CA519286469 | IKBKG | c.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 | |
X | g.154562892T>A | CA415216482 | IKBKG | c.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 | |
X | g.154562892T>C | CA415216486 | IKBKG | c.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 |
X | g.154562892T>G | CA415216490 | IKBKG | c.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 |
X | g.154562892T= | CA2466734041 | IKBKG | c.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= | |
X | g.154562893G>A | CA519286470 | IKBKG | c.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 | |
X | g.154562893G>C | CA519286472 | IKBKG | c.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 | |
X | g.154562893G>T | CA519286471 | IKBKG | c.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 |
X | g.154562894A>C | CA415216494 | IKBKG | c.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 | |
X | g.154562894A>G | CA415216499 | IKBKG | c.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 | |
X | g.154562894A>T | CA415216503 | IKBKG | c.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 | |
X | g.154562895A>C | CA415216511 | IKBKG | c.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 | |
X | g.154562895A>G | CA415216514 | IKBKG | c.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 |
X | g.154562895A>T | CA415216518 | IKBKG | c.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 | |
X | g.154562901_154562903del | CA2695237085 | IKBKG | c.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 | |
X | g.154562896G>A | CA519286474 | IKBKG | c.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 | |
X | g.154562896G>C | CA415216522 | IKBKG | c.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 | |
X | g.154562896G>T | CA415216523 | IKBKG | c.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 |
X | g.154562897G>A | CA415216524 | IKBKG | c.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 | |
X | g.154562897G>C | CA415216529 | IKBKG | c.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 | |
X | g.154562897G>T | CA415216542 | IKBKG | c.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 | |
X | g.154562898A>C | CA415216550 | IKBKG | c.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 | |
X | g.154562898A>G | CA415216553 | IKBKG | c.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 |
X | g.154562898A>T | CA415216555 | IKBKG | c.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 |
X | g.154562899G>A | CA519286475 | IKBKG | c.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 |
X | g.154562899G>C | CA415216561 | IKBKG | c.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 | |
X | g.154562899G>T | CA415216565 | IKBKG | c.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 |
X | g.154562900G>A | CA415216572 | IKBKG | c.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 | |
X | g.154562900G>C | CA415216575 | IKBKG | c.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 | |
X | g.154562900G>T | CA415216579 | IKBKG | c.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 | |
X | g.154562901A>C | CA415216592 | IKBKG | c.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 | |
X | g.154562901A>G | CA415216586 | IKBKG | c.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 |
X | g.154562901A>T | CA415216589 | IKBKG | c.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 |
X | g.154562902G>A | CA519286476 | IKBKG | c.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 |
X | g.154562902G>C | CA415216599 | IKBKG | c.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 | |
X | g.154562902G= | CA2466734043 | IKBKG | c.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= | |
X | g.154562902G>T | CA415216604 | IKBKG | c.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 | |
X | g.154562903G>A | CA415216611 | IKBKG | c.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 |
X | g.154562903G>C | CA415216631 | IKBKG | c.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 | |
X | g.154562903G>T | CA415216635 | IKBKG | c.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 | |
X | g.154562904C>A | CA415216639 | IKBKG | c.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 | |
X | g.154562904C= | CA2466734046 | IKBKG | c.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= | |
X | g.154562904C>G | CA121488 | IKBKG | c.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 |
X | g.154562904C>T | CA415216643 | IKBKG | c.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 |