Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154556172_154563959delCA1139532681IKBKGc.159_1020del
c.195_1056del
c.-87-121_654del
n.570_2453del
c.195_903del
c.195_1113del
n.570_2713del
c.195_759del
c.*187_*1048del
c.195_1032del
c.195_1053del
c.399_1260del
c.195_1035del
c.399_1257del
c.399_1107del
c.195_900del
c.195_687del
n.336_925del
Xg.154558532_154564461delCA2580617548IKBKGc.364_1224del
c.400_1260del
c.-3_858del
c.400_1107del
c.400_1317del
c.400_963del
c.*392_*1252del
c.400-3_1236del
c.400-3_1257del
c.604_1464del
c.400_1239del
c.604-3_1461del
c.604_1321+441del
c.604_1311del
c.400-3_1104del
c.399+2156_891del
n.540+2156_1129del
Xg.154558534G>ACA415213667IKBKGc.366G>A (p.Gln122=)
c.402G>A (p.Gln134=)
c.-1G>A (n.-1G>A)
n.775-1G>A
n.777G>A
c.*394G>A (n.*394G>A)
c.400-1G>A (n.400-1G>A)
n.200-4276G>A
c.606G>A (p.Gln202=)
c.604-1G>A (n.604-1G>A)
c.399+2158G>A (n.399+2158G>A)
n.540+2158G>A
Xg.154558534G>CCA415213646IKBKGc.366G>C (p.Gln122His)
c.402G>C (p.Gln134His)
c.-1G>C (n.-1G>C)
n.775-1G>C
n.777G>C
c.*394G>C (n.*394G>C)
c.400-1G>C (n.400-1G>C)
n.200-4276G>C
c.606G>C (p.Gln202His)
c.604-1G>C (n.604-1G>C)
c.399+2158G>C (n.399+2158G>C)
n.540+2158G>C
 gnomAD v4
Xg.154558534G>TCA415213650IKBKGc.366G>T (p.Gln122His)
c.402G>T (p.Gln134His)
c.-1G>T (n.-1G>T)
n.775-1G>T
n.777G>T
c.*394G>T (n.*394G>T)
c.400-1G>T (n.400-1G>T)
n.200-4276G>T
c.606G>T (p.Gln202His)
c.604-1G>T (n.604-1G>T)
c.399+2158G>T (n.399+2158G>T)
n.540+2158G>T
Xg.154558535A>CCA415213685IKBKGc.367A>C (p.Met123Leu)
c.403A>C (p.Met135Leu)
c.1A>C (p.Met1Leu)
n.775A>C
n.778A>C
c.*395A>C (n.*395A>C)
c.400A>C (p.Met134Leu)
n.200-4275A>C
c.607A>C (p.Met203Leu)
c.604A>C (p.Met202Leu)
c.399+2159A>C (n.399+2159A>C)
n.540+2159A>C
Xg.154558535A>GCA415213688IKBKGc.367A>G (p.Met123Val)
c.403A>G (p.Met135Val)
c.1A>G (p.Met1Val)
n.775A>G
n.778A>G
c.*395A>G (n.*395A>G)
c.400A>G (p.Met134Val)
n.200-4275A>G
c.607A>G (p.Met203Val)
c.604A>G (p.Met202Val)
c.399+2159A>G (n.399+2159A>G)
n.540+2159A>G
Xg.154558535A>TCA415213691IKBKGc.367A>T (p.Met123Leu)
c.403A>T (p.Met135Leu)
c.1A>T (p.Met1Leu)
n.775A>T
n.778A>T
c.*395A>T (n.*395A>T)
c.400A>T (p.Met134Leu)
n.200-4275A>T
c.607A>T (p.Met203Leu)
c.604A>T (p.Met202Leu)
c.399+2159A>T (n.399+2159A>T)
n.540+2159A>T
Xg.154558536T>ACA415213703IKBKGc.368T>A (p.Met123Lys)
c.404T>A (p.Met135Lys)
c.2T>A (p.Met1Lys)
n.776T>A
n.779T>A
c.*396T>A (n.*396T>A)
c.401T>A (p.Met134Lys)
n.200-4274T>A
c.608T>A (p.Met203Lys)
c.605T>A (p.Met202Lys)
c.399+2160T>A (n.399+2160T>A)
n.540+2160T>A
Xg.154558536T>CCA415213699IKBKGc.368T>C (p.Met123Thr)
c.404T>C (p.Met135Thr)
c.2T>C (p.Met1Thr)
n.776T>C
n.779T>C
c.*396T>C (n.*396T>C)
c.401T>C (p.Met134Thr)
n.200-4274T>C
c.608T>C (p.Met203Thr)
c.605T>C (p.Met202Thr)
c.399+2160T>C (n.399+2160T>C)
n.540+2160T>C
Xg.154558536T>GCA415213694IKBKGc.368T>G (p.Met123Arg)
c.404T>G (p.Met135Arg)
c.2T>G (p.Met1Arg)
n.776T>G
n.779T>G
c.*396T>G (n.*396T>G)
c.401T>G (p.Met134Arg)
n.200-4274T>G
c.608T>G (p.Met203Arg)
c.605T>G (p.Met202Arg)
c.399+2160T>G (n.399+2160T>G)
n.540+2160T>G
Xg.154558537G>ACA415213706IKBKGc.369G>A (p.Met123Ile)
c.405G>A (p.Met135Ile)
c.3G>A (p.Met1Ile)
n.777G>A
n.780G>A
c.*397G>A (n.*397G>A)
c.402G>A (p.Met134Ile)
n.200-4273G>A
c.609G>A (p.Met203Ile)
c.606G>A (p.Met202Ile)
c.399+2161G>A (n.399+2161G>A)
n.540+2161G>A
Xg.154558537G>CCA415213710IKBKGc.369G>C (p.Met123Ile)
c.405G>C (p.Met135Ile)
c.3G>C (p.Met1Ile)
n.777G>C
n.780G>C
c.*397G>C (n.*397G>C)
c.402G>C (p.Met134Ile)
n.200-4273G>C
c.609G>C (p.Met203Ile)
c.606G>C (p.Met202Ile)
c.399+2161G>C (n.399+2161G>C)
n.540+2161G>C
Xg.154558537G>TCA415213722IKBKGc.369G>T (p.Met123Ile)
c.405G>T (p.Met135Ile)
c.3G>T (p.Met1Ile)
n.777G>T
n.780G>T
c.*397G>T (n.*397G>T)
c.402G>T (p.Met134Ile)
n.200-4273G>T
c.609G>T (p.Met203Ile)
c.606G>T (p.Met202Ile)
c.399+2161G>T (n.399+2161G>T)
n.540+2161G>T
Xg.154558538G>ACA415213734IKBKGc.370G>A (p.Ala124Thr)
c.406G>A (p.Ala136Thr)
c.4G>A (p.Ala2Thr)
n.778G>A
n.781G>A
c.*398G>A (n.*398G>A)
c.403G>A (p.Ala135Thr)
n.200-4272G>A
c.610G>A (p.Ala204Thr)
c.607G>A (p.Ala203Thr)
c.399+2162G>A (n.399+2162G>A)
n.540+2162G>A
Xg.154558538G>CCA415213739IKBKGc.370G>C (p.Ala124Pro)
c.406G>C (p.Ala136Pro)
c.4G>C (p.Ala2Pro)
n.778G>C
n.781G>C
c.*398G>C (n.*398G>C)
c.403G>C (p.Ala135Pro)
n.200-4272G>C
c.610G>C (p.Ala204Pro)
c.607G>C (p.Ala203Pro)
c.399+2162G>C (n.399+2162G>C)
n.540+2162G>C
Xg.154558538G>TCA415213741IKBKGc.370G>T (p.Ala124Ser)
c.406G>T (p.Ala136Ser)
c.4G>T (p.Ala2Ser)
n.778G>T
n.781G>T
c.*398G>T (n.*398G>T)
c.403G>T (p.Ala135Ser)
n.200-4272G>T
c.610G>T (p.Ala204Ser)
c.607G>T (p.Ala203Ser)
c.399+2162G>T (n.399+2162G>T)
n.540+2162G>T
Xg.154558539C>ACA415213748IKBKGc.371C>A (p.Ala124Asp)
c.407C>A (p.Ala136Asp)
c.5C>A (p.Ala2Asp)
n.779C>A
n.782C>A
c.*399C>A (n.*399C>A)
c.404C>A (p.Ala135Asp)
n.200-4271C>A
c.611C>A (p.Ala204Asp)
c.608C>A (p.Ala203Asp)
c.399+2163C>A (n.399+2163C>A)
n.540+2163C>A
Xg.154558539C>GCA415213755IKBKGc.371C>G (p.Ala124Gly)
c.407C>G (p.Ala136Gly)
c.5C>G (p.Ala2Gly)
n.779C>G
n.782C>G
c.*399C>G (n.*399C>G)
c.404C>G (p.Ala135Gly)
n.200-4271C>G
c.611C>G (p.Ala204Gly)
c.608C>G (p.Ala203Gly)
c.399+2163C>G (n.399+2163C>G)
n.540+2163C>G
Xg.154558539C>TCA415213752IKBKGc.371C>T (p.Ala124Val)
c.407C>T (p.Ala136Val)
c.5C>T (p.Ala2Val)
n.779C>T
n.782C>T
c.*399C>T (n.*399C>T)
c.404C>T (p.Ala135Val)
n.200-4271C>T
c.611C>T (p.Ala204Val)
c.608C>T (p.Ala203Val)
c.399+2163C>T (n.399+2163C>T)
n.540+2163C>T
 gnomAD v4
Xg.154558540T>ACA519284437IKBKGc.372T>A (p.Ala124=)
c.408T>A (p.Ala136=)
c.6T>A (p.Ala2=)
n.780T>A
n.783T>A
c.*400T>A (n.*400T>A)
c.405T>A (p.Ala135=)
n.200-4270T>A
c.612T>A (p.Ala204=)
c.609T>A (p.Ala203=)
c.399+2164T>A (n.399+2164T>A)
n.540+2164T>A
Xg.154558540T>CCA519284438IKBKGc.372T>C (p.Ala124=)
c.408T>C (p.Ala136=)
c.6T>C (p.Ala2=)
n.780T>C
n.783T>C
c.*400T>C (n.*400T>C)
c.405T>C (p.Ala135=)
n.200-4270T>C
c.612T>C (p.Ala204=)
c.609T>C (p.Ala203=)
c.399+2164T>C (n.399+2164T>C)
n.540+2164T>C
Xg.154558540T>GCA519284440IKBKGc.372T>G (p.Ala124=)
c.408T>G (p.Ala136=)
c.6T>G (p.Ala2=)
n.780T>G
n.783T>G
c.*400T>G (n.*400T>G)
c.405T>G (p.Ala135=)
n.200-4270T>G
c.612T>G (p.Ala204=)
c.609T>G (p.Ala203=)
c.399+2164T>G (n.399+2164T>G)
n.540+2164T>G
Xg.154558541G>ACA415213764IKBKGc.373G>A (p.Glu125Lys)
c.409G>A (p.Glu137Lys)
c.7G>A (p.Glu3Lys)
n.781G>A
n.784G>A
c.*401G>A (n.*401G>A)
c.406G>A (p.Glu136Lys)
n.200-4269G>A
c.613G>A (p.Glu205Lys)
c.610G>A (p.Glu204Lys)
c.399+2165G>A (n.399+2165G>A)
n.540+2165G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.154558541G>CCA415213767IKBKGc.373G>C (p.Glu125Gln)
c.409G>C (p.Glu137Gln)
c.7G>C (p.Glu3Gln)
n.781G>C
n.784G>C
c.*401G>C (n.*401G>C)
c.406G>C (p.Glu136Gln)
n.200-4269G>C
c.613G>C (p.Glu205Gln)
c.610G>C (p.Glu204Gln)
c.399+2165G>C (n.399+2165G>C)
n.540+2165G>C
 dbSNP gnomAD v3 gnomAD v4
Xg.154558541G=CA2466732889IKBKGc.373G= (p.Glu125=)
c.409G= (p.Glu137=)
c.7G= (p.Glu3=)
n.781G=
n.784G=
c.*401G= (n.*401G=)
c.406G= (p.Glu136=)
n.200-4269G=
c.613G= (p.Glu205=)
c.610G= (p.Glu204=)
c.399+2165G= (n.399+2165G=)
n.540+2165G=
Xg.154558541G>TCA415213769IKBKGc.373G>T (p.Glu125Ter)
c.409G>T (p.Glu137Ter)
c.7G>T (p.Glu3Ter)
n.781G>T
n.784G>T
c.*401G>T (n.*401G>T)
c.406G>T (p.Glu136Ter)
n.200-4269G>T
c.613G>T (p.Glu205Ter)
c.610G>T (p.Glu204Ter)
c.399+2165G>T (n.399+2165G>T)
n.540+2165G>T
 gnomAD v4
Xg.154558542A>CCA415213772IKBKGc.374A>C (p.Glu125Ala)
c.410A>C (p.Glu137Ala)
c.8A>C (p.Glu3Ala)
n.782A>C
n.785A>C
c.*402A>C (n.*402A>C)
c.407A>C (p.Glu136Ala)
n.200-4268A>C
c.614A>C (p.Glu205Ala)
c.611A>C (p.Glu204Ala)
c.399+2166A>C (n.399+2166A>C)
n.540+2166A>C
Xg.154558542A>GCA415213774IKBKGc.374A>G (p.Glu125Gly)
c.410A>G (p.Glu137Gly)
c.8A>G (p.Glu3Gly)
n.782A>G
n.785A>G
c.*402A>G (n.*402A>G)
c.407A>G (p.Glu136Gly)
n.200-4268A>G
c.614A>G (p.Glu205Gly)
c.611A>G (p.Glu204Gly)
c.399+2166A>G (n.399+2166A>G)
n.540+2166A>G
Xg.154558542A>TCA415213780IKBKGc.374A>T (p.Glu125Val)
c.410A>T (p.Glu137Val)
c.8A>T (p.Glu3Val)
n.782A>T
n.785A>T
c.*402A>T (n.*402A>T)
c.407A>T (p.Glu136Val)
n.200-4268A>T
c.614A>T (p.Glu205Val)
c.611A>T (p.Glu204Val)
c.399+2166A>T (n.399+2166A>T)
n.540+2166A>T
Xg.154558543G>ACA519284445IKBKGc.375G>A (p.Glu125=)
c.411G>A (p.Glu137=)
c.9G>A (p.Glu3=)
n.783G>A
n.786G>A
c.*403G>A (n.*403G>A)
c.408G>A (p.Glu136=)
n.200-4267G>A
c.615G>A (p.Glu205=)
c.612G>A (p.Glu204=)
c.399+2167G>A (n.399+2167G>A)
n.540+2167G>A
Xg.154558543G>CCA415213785IKBKGc.375G>C (p.Glu125Asp)
c.411G>C (p.Glu137Asp)
c.9G>C (p.Glu3Asp)
n.783G>C
n.786G>C
c.*403G>C (n.*403G>C)
c.408G>C (p.Glu136Asp)
n.200-4267G>C
c.615G>C (p.Glu205Asp)
c.612G>C (p.Glu204Asp)
c.399+2167G>C (n.399+2167G>C)
n.540+2167G>C
Xg.154558543G>TCA415213786IKBKGc.375G>T (p.Glu125Asp)
c.411G>T (p.Glu137Asp)
c.9G>T (p.Glu3Asp)
n.783G>T
n.786G>T
c.*403G>T (n.*403G>T)
c.408G>T (p.Glu136Asp)
n.200-4267G>T
c.615G>T (p.Glu205Asp)
c.612G>T (p.Glu204Asp)
c.399+2167G>T (n.399+2167G>T)
n.540+2167G>T
Xg.154558544G>ACA415213791IKBKGc.376G>A (p.Asp126Asn)
c.412G>A (p.Asp138Asn)
c.10G>A (p.Asp4Asn)
n.784G>A
n.787G>A
c.*404G>A (n.*404G>A)
c.409G>A (p.Asp137Asn)
n.200-4266G>A
c.616G>A (p.Asp206Asn)
c.613G>A (p.Asp205Asn)
c.399+2168G>A (n.399+2168G>A)
n.540+2168G>A
 gnomAD v4
Xg.154558544G>CCA415213806IKBKGc.376G>C (p.Asp126His)
c.412G>C (p.Asp138His)
c.10G>C (p.Asp4His)
n.784G>C
n.787G>C
c.*404G>C (n.*404G>C)
c.409G>C (p.Asp137His)
n.200-4266G>C
c.616G>C (p.Asp206His)
c.613G>C (p.Asp205His)
c.399+2168G>C (n.399+2168G>C)
n.540+2168G>C
Xg.154558544G>TCA415213809IKBKGc.376G>T (p.Asp126Tyr)
c.412G>T (p.Asp138Tyr)
c.10G>T (p.Asp4Tyr)
n.784G>T
n.787G>T
c.*404G>T (n.*404G>T)
c.409G>T (p.Asp137Tyr)
n.200-4266G>T
c.616G>T (p.Asp206Tyr)
c.613G>T (p.Asp205Tyr)
c.399+2168G>T (n.399+2168G>T)
n.540+2168G>T
Xg.154558545A>CCA415213811IKBKGc.377A>C (p.Asp126Ala)
c.413A>C (p.Asp138Ala)
c.11A>C (p.Asp4Ala)
n.785A>C
n.788A>C
c.*405A>C (n.*405A>C)
c.410A>C (p.Asp137Ala)
n.200-4265A>C
c.617A>C (p.Asp206Ala)
c.614A>C (p.Asp205Ala)
c.399+2169A>C (n.399+2169A>C)
n.540+2169A>C
Xg.154558545A>GCA415213824IKBKGc.377A>G (p.Asp126Gly)
c.413A>G (p.Asp138Gly)
c.11A>G (p.Asp4Gly)
n.785A>G
n.788A>G
c.*405A>G (n.*405A>G)
c.410A>G (p.Asp137Gly)
n.200-4265A>G
c.617A>G (p.Asp206Gly)
c.614A>G (p.Asp205Gly)
c.399+2169A>G (n.399+2169A>G)
n.540+2169A>G
 gnomAD v4
Xg.154558545A>TCA415213819IKBKGc.377A>T (p.Asp126Val)
c.413A>T (p.Asp138Val)
c.11A>T (p.Asp4Val)
n.785A>T
n.788A>T
c.*405A>T (n.*405A>T)
c.410A>T (p.Asp137Val)
n.200-4265A>T
c.617A>T (p.Asp206Val)
c.614A>T (p.Asp205Val)
c.399+2169A>T (n.399+2169A>T)
n.540+2169A>T
Xg.154558546C>ACA415213831IKBKGc.378C>A (p.Asp126Glu)
c.414C>A (p.Asp138Glu)
c.12C>A (p.Asp4Glu)
n.786C>A
n.789C>A
c.*406C>A (n.*406C>A)
c.411C>A (p.Asp137Glu)
n.200-4264C>A
c.618C>A (p.Asp206Glu)
c.615C>A (p.Asp205Glu)
c.399+2170C>A (n.399+2170C>A)
n.540+2170C>A
Xg.154558546C>GCA415213833IKBKGc.378C>G (p.Asp126Glu)
c.414C>G (p.Asp138Glu)
c.12C>G (p.Asp4Glu)
n.786C>G
n.789C>G
c.*406C>G (n.*406C>G)
c.411C>G (p.Asp137Glu)
n.200-4264C>G
c.618C>G (p.Asp206Glu)
c.615C>G (p.Asp205Glu)
c.399+2170C>G (n.399+2170C>G)
n.540+2170C>G
Xg.154558546C>TCA519284450IKBKGc.378C>T (p.Asp126=)
c.414C>T (p.Asp138=)
c.12C>T (p.Asp4=)
n.786C>T
n.789C>T
c.*406C>T (n.*406C>T)
c.411C>T (p.Asp137=)
n.200-4264C>T
c.618C>T (p.Asp206=)
c.615C>T (p.Asp205=)
c.399+2170C>T (n.399+2170C>T)
n.540+2170C>T
Xg.154558547A>CCA415213835IKBKGc.379A>C (p.Lys127Gln)
c.415A>C (p.Lys139Gln)
c.13A>C (p.Lys5Gln)
n.787A>C
n.790A>C
c.*407A>C (n.*407A>C)
c.412A>C (p.Lys138Gln)
n.200-4263A>C
c.619A>C (p.Lys207Gln)
c.616A>C (p.Lys206Gln)
c.399+2171A>C (n.399+2171A>C)
n.540+2171A>C
Xg.154558547A>GCA415213838IKBKGc.379A>G (p.Lys127Glu)
c.415A>G (p.Lys139Glu)
c.13A>G (p.Lys5Glu)
n.787A>G
n.790A>G
c.*407A>G (n.*407A>G)
c.412A>G (p.Lys138Glu)
n.200-4263A>G
c.619A>G (p.Lys207Glu)
c.616A>G (p.Lys206Glu)
c.399+2171A>G (n.399+2171A>G)
n.540+2171A>G
 gnomAD v4
Xg.154558547A>TCA415213843IKBKGc.379A>T (p.Lys127Ter)
c.415A>T (p.Lys139Ter)
c.13A>T (p.Lys5Ter)
n.787A>T
n.790A>T
c.*407A>T (n.*407A>T)
c.412A>T (p.Lys138Ter)
n.200-4263A>T
c.619A>T (p.Lys207Ter)
c.616A>T (p.Lys206Ter)
c.399+2171A>T (n.399+2171A>T)
n.540+2171A>T
Xg.154558548A>CCA415213846IKBKGc.380A>C (p.Lys127Thr)
c.416A>C (p.Lys139Thr)
c.14A>C (p.Lys5Thr)
n.788A>C
n.791A>C
c.*408A>C (n.*408A>C)
c.413A>C (p.Lys138Thr)
n.200-4262A>C
c.620A>C (p.Lys207Thr)
c.617A>C (p.Lys206Thr)
c.399+2172A>C (n.399+2172A>C)
n.540+2172A>C
 gnomAD v4
Xg.154558548A>GCA415213850IKBKGc.380A>G (p.Lys127Arg)
c.416A>G (p.Lys139Arg)
c.14A>G (p.Lys5Arg)
n.788A>G
n.791A>G
c.*408A>G (n.*408A>G)
c.413A>G (p.Lys138Arg)
n.200-4262A>G
c.620A>G (p.Lys207Arg)
c.617A>G (p.Lys206Arg)
c.399+2172A>G (n.399+2172A>G)
n.540+2172A>G
Xg.154558548A>TCA415213852IKBKGc.380A>T (p.Lys127Met)
c.416A>T (p.Lys139Met)
c.14A>T (p.Lys5Met)
n.788A>T
n.791A>T
c.*408A>T (n.*408A>T)
c.413A>T (p.Lys138Met)
n.200-4262A>T
c.620A>T (p.Lys207Met)
c.617A>T (p.Lys206Met)
c.399+2172A>T (n.399+2172A>T)
n.540+2172A>T
Xg.154558549G>ACA519284456IKBKGc.381G>A (p.Lys127=)
c.417G>A (p.Lys139=)
c.15G>A (p.Lys5=)
n.789G>A
n.792G>A
c.*409G>A (n.*409G>A)
c.414G>A (p.Lys138=)
n.200-4261G>A
c.621G>A (p.Lys207=)
c.618G>A (p.Lys206=)
c.399+2173G>A (n.399+2173G>A)
n.540+2173G>A
Xg.154558549G>CCA415213855IKBKGc.381G>C (p.Lys127Asn)
c.417G>C (p.Lys139Asn)
c.15G>C (p.Lys5Asn)
n.789G>C
n.792G>C
c.*409G>C (n.*409G>C)
c.414G>C (p.Lys138Asn)
n.200-4261G>C
c.621G>C (p.Lys207Asn)
c.618G>C (p.Lys206Asn)
c.399+2173G>C (n.399+2173G>C)
n.540+2173G>C
 gnomAD v4
Xg.154558549G>TCA415213857IKBKGc.381G>T (p.Lys127Asn)
c.417G>T (p.Lys139Asn)
c.15G>T (p.Lys5Asn)
n.789G>T
n.792G>T
c.*409G>T (n.*409G>T)
c.414G>T (p.Lys138Asn)
n.200-4261G>T
c.621G>T (p.Lys207Asn)
c.618G>T (p.Lys206Asn)
c.399+2173G>T (n.399+2173G>T)
n.540+2173G>T
Xg.154558550G>ACA415213862IKBKGc.382G>A (p.Ala128Thr)
c.418G>A (p.Ala140Thr)
c.16G>A (p.Ala6Thr)
n.790G>A
n.793G>A
c.*410G>A (n.*410G>A)
c.415G>A (p.Ala139Thr)
n.200-4260G>A
c.622G>A (p.Ala208Thr)
c.619G>A (p.Ala207Thr)
c.399+2174G>A (n.399+2174G>A)
n.540+2174G>A
Xg.154558550G>CCA415213865IKBKGc.382G>C (p.Ala128Pro)
c.418G>C (p.Ala140Pro)
c.16G>C (p.Ala6Pro)
n.790G>C
n.793G>C
c.*410G>C (n.*410G>C)
c.415G>C (p.Ala139Pro)
n.200-4260G>C
c.622G>C (p.Ala208Pro)
c.619G>C (p.Ala207Pro)
c.399+2174G>C (n.399+2174G>C)
n.540+2174G>C
Xg.154558550G>TCA415213868IKBKGc.382G>T (p.Ala128Ser)
c.418G>T (p.Ala140Ser)
c.16G>T (p.Ala6Ser)
n.790G>T
n.793G>T
c.*410G>T (n.*410G>T)
c.415G>T (p.Ala139Ser)
n.200-4260G>T
c.622G>T (p.Ala208Ser)
c.619G>T (p.Ala207Ser)
c.399+2174G>T (n.399+2174G>T)
n.540+2174G>T
 gnomAD v3 gnomAD v4
Xg.154558551C>ACA415213871IKBKGc.383C>A (p.Ala128Asp)
c.419C>A (p.Ala140Asp)
c.17C>A (p.Ala6Asp)
n.791C>A
n.794C>A
c.*411C>A (n.*411C>A)
c.416C>A (p.Ala139Asp)
n.200-4259C>A
c.623C>A (p.Ala208Asp)
c.620C>A (p.Ala207Asp)
c.399+2175C>A (n.399+2175C>A)
n.540+2175C>A
 dbSNP gnomAD v3 gnomAD v4
Xg.154558551C=CA2466732890IKBKGc.383C= (p.Ala128=)
c.419C= (p.Ala140=)
c.17C= (p.Ala6=)
n.791C=
n.794C=
c.*411C= (n.*411C=)
c.416C= (p.Ala139=)
n.200-4259C=
c.623C= (p.Ala208=)
c.620C= (p.Ala207=)
c.399+2175C= (n.399+2175C=)
n.540+2175C=
Xg.154558551C>GCA415213878IKBKGc.383C>G (p.Ala128Gly)
c.419C>G (p.Ala140Gly)
c.17C>G (p.Ala6Gly)
n.791C>G
n.794C>G
c.*411C>G (n.*411C>G)
c.416C>G (p.Ala139Gly)
n.200-4259C>G
c.623C>G (p.Ala208Gly)
c.620C>G (p.Ala207Gly)
c.399+2175C>G (n.399+2175C>G)
n.540+2175C>G
Xg.154558551C>TCA415213874IKBKGc.383C>T (p.Ala128Val)
c.419C>T (p.Ala140Val)
c.17C>T (p.Ala6Val)
n.791C>T
n.794C>T
c.*411C>T (n.*411C>T)
c.416C>T (p.Ala139Val)
n.200-4259C>T
c.623C>T (p.Ala208Val)
c.620C>T (p.Ala207Val)
c.399+2175C>T (n.399+2175C>T)
n.540+2175C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.154558552C>ACA519284467IKBKGc.384C>A (p.Ala128=)
c.420C>A (p.Ala140=)
c.18C>A (p.Ala6=)
n.792C>A
n.795C>A
c.*412C>A (n.*412C>A)
c.417C>A (p.Ala139=)
n.200-4258C>A
c.624C>A (p.Ala208=)
c.621C>A (p.Ala207=)
c.399+2176C>A (n.399+2176C>A)
n.540+2176C>A
Xg.154558552C=CA2466732891IKBKGc.384C= (p.Ala128=)
c.420C= (p.Ala140=)
c.18C= (p.Ala6=)
n.792C=
n.795C=
c.*412C= (n.*412C=)
c.417C= (p.Ala139=)
n.200-4258C=
c.624C= (p.Ala208=)
c.621C= (p.Ala207=)
c.399+2176C= (n.399+2176C=)
n.540+2176C=
Xg.154558552C>GCA519284469IKBKGc.384C>G (p.Ala128=)
c.420C>G (p.Ala140=)
c.18C>G (p.Ala6=)
n.792C>G
n.795C>G
c.*412C>G (n.*412C>G)
c.417C>G (p.Ala139=)
n.200-4258C>G
c.624C>G (p.Ala208=)
c.621C>G (p.Ala207=)
c.399+2176C>G (n.399+2176C>G)
n.540+2176C>G
Xg.154558552C>TCA519284470IKBKGc.384C>T (p.Ala128=)
c.420C>T (p.Ala140=)
c.18C>T (p.Ala6=)
n.792C>T
n.795C>T
c.*412C>T (n.*412C>T)
c.417C>T (p.Ala139=)
n.200-4258C>T
c.624C>T (p.Ala208=)
c.621C>T (p.Ala207=)
c.399+2176C>T (n.399+2176C>T)
n.540+2176C>T
 dbSNP gnomAD v4
Xg.154558553T>ACA415213880IKBKGc.385T>A (p.Ser129Thr)
c.421T>A (p.Ser141Thr)
c.19T>A (p.Ser7Thr)
n.793T>A
n.796T>A
c.*413T>A (n.*413T>A)
c.418T>A (p.Ser140Thr)
n.200-4257T>A
c.625T>A (p.Ser209Thr)
c.622T>A (p.Ser208Thr)
c.399+2177T>A (n.399+2177T>A)
n.540+2177T>A
Xg.154558553T>CCA415213892IKBKGc.385T>C (p.Ser129Pro)
c.421T>C (p.Ser141Pro)
c.19T>C (p.Ser7Pro)
n.793T>C
n.796T>C
c.*413T>C (n.*413T>C)
c.418T>C (p.Ser140Pro)
n.200-4257T>C
c.625T>C (p.Ser209Pro)
c.622T>C (p.Ser208Pro)
c.399+2177T>C (n.399+2177T>C)
n.540+2177T>C
Xg.154558553T>GCA415213895IKBKGc.385T>G (p.Ser129Ala)
c.421T>G (p.Ser141Ala)
c.19T>G (p.Ser7Ala)
n.793T>G
n.796T>G
c.*413T>G (n.*413T>G)
c.418T>G (p.Ser140Ala)
n.200-4257T>G
c.625T>G (p.Ser209Ala)
c.622T>G (p.Ser208Ala)
c.399+2177T>G (n.399+2177T>G)
n.540+2177T>G
Xg.154558554C>ACA415213901IKBKGc.386C>A (p.Ser129Tyr)
c.422C>A (p.Ser141Tyr)
c.20C>A (p.Ser7Tyr)
n.794C>A
n.797C>A
c.*414C>A (n.*414C>A)
c.419C>A (p.Ser140Tyr)
n.200-4256C>A
c.626C>A (p.Ser209Tyr)
c.623C>A (p.Ser208Tyr)
c.399+2178C>A (n.399+2178C>A)
n.540+2178C>A
Xg.154558554C>GCA415213905IKBKGc.386C>G (p.Ser129Cys)
c.422C>G (p.Ser141Cys)
c.20C>G (p.Ser7Cys)
n.794C>G
n.797C>G
c.*414C>G (n.*414C>G)
c.419C>G (p.Ser140Cys)
n.200-4256C>G
c.626C>G (p.Ser209Cys)
c.623C>G (p.Ser208Cys)
c.399+2178C>G (n.399+2178C>G)
n.540+2178C>G
Xg.154558554C>TCA415213907IKBKGc.386C>T (p.Ser129Phe)
c.422C>T (p.Ser141Phe)
c.20C>T (p.Ser7Phe)
n.794C>T
n.797C>T
c.*414C>T (n.*414C>T)
c.419C>T (p.Ser140Phe)
n.200-4256C>T
c.626C>T (p.Ser209Phe)
c.623C>T (p.Ser208Phe)
c.399+2178C>T (n.399+2178C>T)
n.540+2178C>T
Xg.154558555T>ACA519284478IKBKGc.387T>A (p.Ser129=)
c.423T>A (p.Ser141=)
c.21T>A (p.Ser7=)
n.795T>A
n.798T>A
c.*415T>A (n.*415T>A)
c.420T>A (p.Ser140=)
n.200-4255T>A
c.627T>A (p.Ser209=)
c.624T>A (p.Ser208=)
c.399+2179T>A (n.399+2179T>A)
n.540+2179T>A
Xg.154558555T>CCA519284480IKBKGc.387T>C (p.Ser129=)
c.423T>C (p.Ser141=)
c.21T>C (p.Ser7=)
n.795T>C
n.798T>C
c.*415T>C (n.*415T>C)
c.420T>C (p.Ser140=)
n.200-4255T>C
c.627T>C (p.Ser209=)
c.624T>C (p.Ser208=)
c.399+2179T>C (n.399+2179T>C)
n.540+2179T>C
 gnomAD v4
Xg.154558555T>GCA519284482IKBKGc.387T>G (p.Ser129=)
c.423T>G (p.Ser141=)
c.21T>G (p.Ser7=)
n.795T>G
n.798T>G
c.*415T>G (n.*415T>G)
c.420T>G (p.Ser140=)
n.200-4255T>G
c.627T>G (p.Ser209=)
c.624T>G (p.Ser208=)
c.399+2179T>G (n.399+2179T>G)
n.540+2179T>G
Xg.154558557_154558558delCA2695237072IKBKGc.389_390del (p.Val130GlufsTer23)
c.425_426del (p.Val142GlufsTer23)
c.23_24del (p.Val8GlufsTer23)
n.797_798del
n.800_801del
c.*417_*418del (n.*417_*418del)
c.422_423del (p.Val141GlufsTer23)
n.200-4253_200-4252del
c.629_630del (p.Val210GlufsTer23)
c.626_627del (p.Val209GlufsTer23)
c.399+2181_399+2182del (n.399+2181_399+2182del)
n.540+2181_540+2182del
Xg.154558556G>ACA415213912IKBKGc.388G>A (p.Val130Met)
c.424G>A (p.Val142Met)
c.22G>A (p.Val8Met)
n.796G>A
n.799G>A
c.*416G>A (n.*416G>A)
c.421G>A (p.Val141Met)
n.200-4254G>A
c.628G>A (p.Val210Met)
c.625G>A (p.Val209Met)
c.399+2180G>A (n.399+2180G>A)
n.540+2180G>A
Xg.154558556G>CCA415213914IKBKGc.388G>C (p.Val130Leu)
c.424G>C (p.Val142Leu)
c.22G>C (p.Val8Leu)
n.796G>C
n.799G>C
c.*416G>C (n.*416G>C)
c.421G>C (p.Val141Leu)
n.200-4254G>C
c.628G>C (p.Val210Leu)
c.625G>C (p.Val209Leu)
c.399+2180G>C (n.399+2180G>C)
n.540+2180G>C
Xg.154558556G>TCA415213915IKBKGc.388G>T (p.Val130Leu)
c.424G>T (p.Val142Leu)
c.22G>T (p.Val8Leu)
n.796G>T
n.799G>T
c.*416G>T (n.*416G>T)
c.421G>T (p.Val141Leu)
n.200-4254G>T
c.628G>T (p.Val210Leu)
c.625G>T (p.Val209Leu)
c.399+2180G>T (n.399+2180G>T)
n.540+2180G>T
Xg.154558557T>ACA415213922IKBKGc.389T>A (p.Val130Glu)
c.425T>A (p.Val142Glu)
c.23T>A (p.Val8Glu)
n.797T>A
n.800T>A
c.*417T>A (n.*417T>A)
c.422T>A (p.Val141Glu)
n.200-4253T>A
c.629T>A (p.Val210Glu)
c.626T>A (p.Val209Glu)
c.399+2181T>A (n.399+2181T>A)
n.540+2181T>A
Xg.154558557T>CCA415213920IKBKGc.389T>C (p.Val130Ala)
c.425T>C (p.Val142Ala)
c.23T>C (p.Val8Ala)
n.797T>C
n.800T>C
c.*417T>C (n.*417T>C)
c.422T>C (p.Val141Ala)
n.200-4253T>C
c.629T>C (p.Val210Ala)
c.626T>C (p.Val209Ala)
c.399+2181T>C (n.399+2181T>C)
n.540+2181T>C
Xg.154558557T>GCA415213918IKBKGc.389T>G (p.Val130Gly)
c.425T>G (p.Val142Gly)
c.23T>G (p.Val8Gly)
n.797T>G
n.800T>G
c.*417T>G (n.*417T>G)
c.422T>G (p.Val141Gly)
n.200-4253T>G
c.629T>G (p.Val210Gly)
c.626T>G (p.Val209Gly)
c.399+2181T>G (n.399+2181T>G)
n.540+2181T>G
Xg.154558558G>ACA519284489IKBKGc.390G>A (p.Val130=)
c.426G>A (p.Val142=)
c.24G>A (p.Val8=)
n.798G>A
n.801G>A
c.*418G>A (n.*418G>A)
c.423G>A (p.Val141=)
n.200-4252G>A
c.630G>A (p.Val210=)
c.627G>A (p.Val209=)
c.399+2182G>A (n.399+2182G>A)
n.540+2182G>A
 gnomAD v4
Xg.154558558G>CCA519284492IKBKGc.390G>C (p.Val130=)
c.426G>C (p.Val142=)
c.24G>C (p.Val8=)
n.798G>C
n.801G>C
c.*418G>C (n.*418G>C)
c.423G>C (p.Val141=)
n.200-4252G>C
c.630G>C (p.Val210=)
c.627G>C (p.Val209=)
c.399+2182G>C (n.399+2182G>C)
n.540+2182G>C
Xg.154558558G>TCA519284494IKBKGc.390G>T (p.Val130=)
c.426G>T (p.Val142=)
c.24G>T (p.Val8=)
n.798G>T
n.801G>T
c.*418G>T (n.*418G>T)
c.423G>T (p.Val141=)
n.200-4252G>T
c.630G>T (p.Val210=)
c.627G>T (p.Val209=)
c.399+2182G>T (n.399+2182G>T)
n.540+2182G>T
Xg.154558559A=CA2466732892IKBKGc.391A= (p.Lys131=)
c.427A= (p.Lys143=)
c.25A= (p.Lys9=)
n.799A=
n.802A=
c.*419A= (n.*419A=)
c.424A= (p.Lys142=)
n.200-4251A=
c.631A= (p.Lys211=)
c.628A= (p.Lys210=)
c.399+2183A= (n.399+2183A=)
n.540+2183A=
Xg.154558559A>CCA415213925IKBKGc.391A>C (p.Lys131Gln)
c.427A>C (p.Lys143Gln)
c.25A>C (p.Lys9Gln)
n.799A>C
n.802A>C
c.*419A>C (n.*419A>C)
c.424A>C (p.Lys142Gln)
n.200-4251A>C
c.631A>C (p.Lys211Gln)
c.628A>C (p.Lys210Gln)
c.399+2183A>C (n.399+2183A>C)
n.540+2183A>C
Xg.154558559A>GCA415213927IKBKGc.391A>G (p.Lys131Glu)
c.427A>G (p.Lys143Glu)
c.25A>G (p.Lys9Glu)
n.799A>G
n.802A>G
c.*419A>G (n.*419A>G)
c.424A>G (p.Lys142Glu)
n.200-4251A>G
c.631A>G (p.Lys211Glu)
c.628A>G (p.Lys210Glu)
c.399+2183A>G (n.399+2183A>G)
n.540+2183A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.154558559A>TCA415213930IKBKGc.391A>T (p.Lys131Ter)
c.427A>T (p.Lys143Ter)
c.25A>T (p.Lys9Ter)
n.799A>T
n.802A>T
c.*419A>T (n.*419A>T)
c.424A>T (p.Lys142Ter)
n.200-4251A>T
c.631A>T (p.Lys211Ter)
c.628A>T (p.Lys210Ter)
c.399+2183A>T (n.399+2183A>T)
n.540+2183A>T
Xg.154558560A=CA2466732893IKBKGc.392A= (p.Lys131=)
c.428A= (p.Lys143=)
c.26A= (p.Lys9=)
n.800A=
n.803A=
c.*420A= (n.*420A=)
c.425A= (p.Lys142=)
n.200-4250A=
c.632A= (p.Lys211=)
c.629A= (p.Lys210=)
c.399+2184A= (n.399+2184A=)
n.540+2184A=
Xg.154558560A>CCA415213933IKBKGc.392A>C (p.Lys131Thr)
c.428A>C (p.Lys143Thr)
c.26A>C (p.Lys9Thr)
n.800A>C
n.803A>C
c.*420A>C (n.*420A>C)
c.425A>C (p.Lys142Thr)
n.200-4250A>C
c.632A>C (p.Lys211Thr)
c.629A>C (p.Lys210Thr)
c.399+2184A>C (n.399+2184A>C)
n.540+2184A>C
Xg.154558560A>GCA415213936IKBKGc.392A>G (p.Lys131Arg)
c.428A>G (p.Lys143Arg)
c.26A>G (p.Lys9Arg)
n.800A>G
n.803A>G
c.*420A>G (n.*420A>G)
c.425A>G (p.Lys142Arg)
n.200-4250A>G
c.632A>G (p.Lys211Arg)
c.629A>G (p.Lys210Arg)
c.399+2184A>G (n.399+2184A>G)
n.540+2184A>G
Xg.154558560A>TCA415213939IKBKGc.392A>T (p.Lys131Ile)
c.428A>T (p.Lys143Ile)
c.26A>T (p.Lys9Ile)
n.800A>T
n.803A>T
c.*420A>T (n.*420A>T)
c.425A>T (p.Lys142Ile)
n.200-4250A>T
c.632A>T (p.Lys211Ile)
c.629A>T (p.Lys210Ile)
c.399+2184A>T (n.399+2184A>T)
n.540+2184A>T
 dbSNP
Xg.154558561A>CCA415213946IKBKGc.393A>C (p.Lys131Asn)
c.429A>C (p.Lys143Asn)
c.27A>C (p.Lys9Asn)
n.801A>C
n.804A>C
c.*421A>C (n.*421A>C)
c.426A>C (p.Lys142Asn)
n.200-4249A>C
c.633A>C (p.Lys211Asn)
c.630A>C (p.Lys210Asn)
c.399+2185A>C (n.399+2185A>C)
n.540+2185A>C
Xg.154558561A>GCA519284504IKBKGc.393A>G (p.Lys131=)
c.429A>G (p.Lys143=)
c.27A>G (p.Lys9=)
n.801A>G
n.804A>G
c.*421A>G (n.*421A>G)
c.426A>G (p.Lys142=)
n.200-4249A>G
c.633A>G (p.Lys211=)
c.630A>G (p.Lys210=)
c.399+2185A>G (n.399+2185A>G)
n.540+2185A>G
Xg.154558561A>TCA415213944IKBKGc.393A>T (p.Lys131Asn)
c.429A>T (p.Lys143Asn)
c.27A>T (p.Lys9Asn)
n.801A>T
n.804A>T
c.*421A>T (n.*421A>T)
c.426A>T (p.Lys142Asn)
n.200-4249A>T
c.633A>T (p.Lys211Asn)
c.630A>T (p.Lys210Asn)
c.399+2185A>T (n.399+2185A>T)
n.540+2185A>T
Xg.154558562G>ACA415213949IKBKGc.394G>A (p.Ala132Thr)
c.430G>A (p.Ala144Thr)
c.28G>A (p.Ala10Thr)
n.802G>A
n.805G>A
c.*422G>A (n.*422G>A)
c.427G>A (p.Ala143Thr)
n.200-4248G>A
c.634G>A (p.Ala212Thr)
c.631G>A (p.Ala211Thr)
c.399+2186G>A (n.399+2186G>A)
n.540+2186G>A
Xg.154558562G>CCA415213951IKBKGc.394G>C (p.Ala132Pro)
c.430G>C (p.Ala144Pro)
c.28G>C (p.Ala10Pro)
n.802G>C
n.805G>C
c.*422G>C (n.*422G>C)
c.427G>C (p.Ala143Pro)
n.200-4248G>C
c.634G>C (p.Ala212Pro)
c.631G>C (p.Ala211Pro)
c.399+2186G>C (n.399+2186G>C)
n.540+2186G>C
 dbSNP gnomAD v3 gnomAD v4
Xg.154558562G=CA2466732894IKBKGc.394G= (p.Ala132=)
c.430G= (p.Ala144=)
c.28G= (p.Ala10=)
n.802G=
n.805G=
c.*422G= (n.*422G=)
c.427G= (p.Ala143=)
n.200-4248G=
c.634G= (p.Ala212=)
c.631G= (p.Ala211=)
c.399+2186G= (n.399+2186G=)
n.540+2186G=
Xg.154558562G>TCA415213953IKBKGc.394G>T (p.Ala132Ser)
c.430G>T (p.Ala144Ser)
c.28G>T (p.Ala10Ser)
n.802G>T
n.805G>T
c.*422G>T (n.*422G>T)
c.427G>T (p.Ala143Ser)
n.200-4248G>T
c.634G>T (p.Ala212Ser)
c.631G>T (p.Ala211Ser)
c.399+2186G>T (n.399+2186G>T)
n.540+2186G>T
Xg.154558563C>ACA415213959IKBKGc.395C>A (p.Ala132Asp)
c.431C>A (p.Ala144Asp)
c.29C>A (p.Ala10Asp)
n.803C>A
n.806C>A
c.*423C>A (n.*423C>A)
c.428C>A (p.Ala143Asp)
n.200-4247C>A
c.635C>A (p.Ala212Asp)
c.632C>A (p.Ala211Asp)
c.399+2187C>A (n.399+2187C>A)
n.540+2187C>A
 gnomAD v4
Xg.154558563C>GCA415213962IKBKGc.395C>G (p.Ala132Gly)
c.431C>G (p.Ala144Gly)
c.29C>G (p.Ala10Gly)
n.803C>G
n.806C>G
c.*423C>G (n.*423C>G)
c.428C>G (p.Ala143Gly)
n.200-4247C>G
c.635C>G (p.Ala212Gly)
c.632C>G (p.Ala211Gly)
c.399+2187C>G (n.399+2187C>G)
n.540+2187C>G
Xg.154558563C>TCA415213964IKBKGc.395C>T (p.Ala132Val)
c.431C>T (p.Ala144Val)
c.29C>T (p.Ala10Val)
n.803C>T
n.806C>T
c.*423C>T (n.*423C>T)
c.428C>T (p.Ala143Val)
n.200-4247C>T
c.635C>T (p.Ala212Val)
c.632C>T (p.Ala211Val)
c.399+2187C>T (n.399+2187C>T)
n.540+2187C>T
Xg.154558565delCA2538541764IKBKGc.397del (p.Gln133ArgfsTer2)
c.433del (p.Gln145ArgfsTer2)
c.31del (p.Gln11ArgfsTer2)
n.805del
n.808del
c.*425del (n.*425del)
c.430del (p.Gln144ArgfsTer2)
n.200-4245del
c.637del (p.Gln213ArgfsTer2)
c.634del (p.Gln212ArgfsTer2)
c.399+2189del (n.399+2189del)
n.540+2189del
Xg.154558564C>ACA519284518IKBKGc.396C>A (p.Ala132=)
c.432C>A (p.Ala144=)
c.30C>A (p.Ala10=)
n.804C>A
n.807C>A
c.*424C>A (n.*424C>A)
c.429C>A (p.Ala143=)
n.200-4246C>A
c.636C>A (p.Ala212=)
c.633C>A (p.Ala211=)
c.399+2188C>A (n.399+2188C>A)
n.540+2188C>A
Xg.154558564C>GCA519284510IKBKGc.396C>G (p.Ala132=)
c.432C>G (p.Ala144=)
c.30C>G (p.Ala10=)
n.804C>G
n.807C>G
c.*424C>G (n.*424C>G)
c.429C>G (p.Ala143=)
n.200-4246C>G
c.636C>G (p.Ala212=)
c.633C>G (p.Ala211=)
c.399+2188C>G (n.399+2188C>G)
n.540+2188C>G
Xg.154558564C>TCA519284512IKBKGc.396C>T (p.Ala132=)
c.432C>T (p.Ala144=)
c.30C>T (p.Ala10=)
n.804C>T
n.807C>T
c.*424C>T (n.*424C>T)
c.429C>T (p.Ala143=)
n.200-4246C>T
c.636C>T (p.Ala212=)
c.633C>T (p.Ala211=)
c.399+2188C>T (n.399+2188C>T)
n.540+2188C>T
Xg.154558565C>ACA415213968IKBKGc.397C>A (p.Gln133Lys)
c.433C>A (p.Gln145Lys)
c.31C>A (p.Gln11Lys)
n.805C>A
n.808C>A
c.*425C>A (n.*425C>A)
c.430C>A (p.Gln144Lys)
n.200-4245C>A
c.637C>A (p.Gln213Lys)
c.634C>A (p.Gln212Lys)
c.399+2189C>A (n.399+2189C>A)
n.540+2189C>A
Xg.154558565C>GCA415213974IKBKGc.397C>G (p.Gln133Glu)
c.433C>G (p.Gln145Glu)
c.31C>G (p.Gln11Glu)
n.805C>G
n.808C>G
c.*425C>G (n.*425C>G)
c.430C>G (p.Gln144Glu)
n.200-4245C>G
c.637C>G (p.Gln213Glu)
c.634C>G (p.Gln212Glu)
c.399+2189C>G (n.399+2189C>G)
n.540+2189C>G
Xg.154558565C>TCA415213970IKBKGc.397C>T (p.Gln133Ter)
c.433C>T (p.Gln145Ter)
c.31C>T (p.Gln11Ter)
n.805C>T
n.808C>T
c.*425C>T (n.*425C>T)
c.430C>T (p.Gln144Ter)
n.200-4245C>T
c.637C>T (p.Gln213Ter)
c.634C>T (p.Gln212Ter)
c.399+2189C>T (n.399+2189C>T)
n.540+2189C>T
Xg.154558566A>CCA415213977IKBKGc.398A>C (p.Gln133Pro)
c.434A>C (p.Gln145Pro)
c.32A>C (p.Gln11Pro)
n.806A>C
n.809A>C
c.*426A>C (n.*426A>C)
c.431A>C (p.Gln144Pro)
n.200-4244A>C
c.638A>C (p.Gln213Pro)
c.635A>C (p.Gln212Pro)
c.399+2190A>C (n.399+2190A>C)
n.540+2190A>C
Xg.154558566A>GCA415213980IKBKGc.398A>G (p.Gln133Arg)
c.434A>G (p.Gln145Arg)
c.32A>G (p.Gln11Arg)
n.806A>G
n.809A>G
c.*426A>G (n.*426A>G)
c.431A>G (p.Gln144Arg)
n.200-4244A>G
c.638A>G (p.Gln213Arg)
c.635A>G (p.Gln212Arg)
c.399+2190A>G (n.399+2190A>G)
n.540+2190A>G
Xg.154558566A>TCA415213984IKBKGc.398A>T (p.Gln133Leu)
c.434A>T (p.Gln145Leu)
c.32A>T (p.Gln11Leu)
n.806A>T
n.809A>T
c.*426A>T (n.*426A>T)
c.431A>T (p.Gln144Leu)
n.200-4244A>T
c.638A>T (p.Gln213Leu)
c.635A>T (p.Gln212Leu)
c.399+2190A>T (n.399+2190A>T)
n.540+2190A>T
Xg.154558567G>ACA519284526IKBKGc.399G>A (p.Gln133=)
c.435G>A (p.Gln145=)
c.33G>A (p.Gln11=)
n.807G>A
n.810G>A
c.*427G>A (n.*427G>A)
c.432G>A (p.Gln144=)
n.200-4243G>A
c.639G>A (p.Gln213=)
c.636G>A (p.Gln212=)
c.399+2191G>A (n.399+2191G>A)
n.540+2191G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.154558567G>CCA415213987IKBKGc.399G>C (p.Gln133His)
c.435G>C (p.Gln145His)
c.33G>C (p.Gln11His)
n.807G>C
n.810G>C
c.*427G>C (n.*427G>C)
c.432G>C (p.Gln144His)
n.200-4243G>C
c.639G>C (p.Gln213His)
c.636G>C (p.Gln212His)
c.399+2191G>C (n.399+2191G>C)
n.540+2191G>C
Xg.154558567G=CA2466732895IKBKGc.399G= (p.Gln133=)
c.435G= (p.Gln145=)
c.33G= (p.Gln11=)
n.807G=
n.810G=
c.*427G= (n.*427G=)
c.432G= (p.Gln144=)
n.200-4243G=
c.639G= (p.Gln213=)
c.636G= (p.Gln212=)
c.399+2191G= (n.399+2191G=)
n.540+2191G=
Xg.154558567G>TCA415213989IKBKGc.399G>T (p.Gln133His)
c.435G>T (p.Gln145His)
c.33G>T (p.Gln11His)
n.807G>T
n.810G>T
c.*427G>T (n.*427G>T)
c.432G>T (p.Gln144His)
n.200-4243G>T
c.639G>T (p.Gln213His)
c.636G>T (p.Gln212His)
c.399+2191G>T (n.399+2191G>T)
n.540+2191G>T
Xg.154558568G>ACA415213995IKBKGc.400G>A (p.Val134Met)
c.436G>A (p.Val146Met)
c.34G>A (p.Val12Met)
n.808G>A
n.811G>A
c.*428G>A (n.*428G>A)
c.433G>A (p.Val145Met)
n.200-4242G>A
c.640G>A (p.Val214Met)
c.637G>A (p.Val213Met)
c.399+2192G>A (n.399+2192G>A)
n.540+2192G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.154558568G>CCA415213997IKBKGc.400G>C (p.Val134Leu)
c.436G>C (p.Val146Leu)
c.34G>C (p.Val12Leu)
n.808G>C
n.811G>C
c.*428G>C (n.*428G>C)
c.433G>C (p.Val145Leu)
n.200-4242G>C
c.640G>C (p.Val214Leu)
c.637G>C (p.Val213Leu)
c.399+2192G>C (n.399+2192G>C)
n.540+2192G>C
Xg.154558568G=CA2466732896IKBKGc.400G= (p.Val134=)
c.436G= (p.Val146=)
c.34G= (p.Val12=)
n.808G=
n.811G=
c.*428G= (n.*428G=)
c.433G= (p.Val145=)
n.200-4242G=
c.640G= (p.Val214=)
c.637G= (p.Val213=)
c.399+2192G= (n.399+2192G=)
n.540+2192G=
Xg.154558568G>TCA415214000IKBKGc.400G>T (p.Val134Leu)
c.436G>T (p.Val146Leu)
c.34G>T (p.Val12Leu)
n.808G>T
n.811G>T
c.*428G>T (n.*428G>T)
c.433G>T (p.Val145Leu)
n.200-4242G>T
c.640G>T (p.Val214Leu)
c.637G>T (p.Val213Leu)
c.399+2192G>T (n.399+2192G>T)
n.540+2192G>T
Xg.154558569T>ACA415214003IKBKGc.401T>A (p.Val134Glu)
c.437T>A (p.Val146Glu)
c.35T>A (p.Val12Glu)
n.809T>A
n.812T>A
c.*429T>A (n.*429T>A)
c.434T>A (p.Val145Glu)
n.200-4241T>A
c.641T>A (p.Val214Glu)
c.638T>A (p.Val213Glu)
c.399+2193T>A (n.399+2193T>A)
n.540+2193T>A
Xg.154558569T>CCA415214007IKBKGc.401T>C (p.Val134Ala)
c.437T>C (p.Val146Ala)
c.35T>C (p.Val12Ala)
n.809T>C
n.812T>C
c.*429T>C (n.*429T>C)
c.434T>C (p.Val145Ala)
n.200-4241T>C
c.641T>C (p.Val214Ala)
c.638T>C (p.Val213Ala)
c.399+2193T>C (n.399+2193T>C)
n.540+2193T>C
 gnomAD v4
Xg.154558569T>GCA415214010IKBKGc.401T>G (p.Val134Gly)
c.437T>G (p.Val146Gly)
c.35T>G (p.Val12Gly)
n.809T>G
n.812T>G
c.*429T>G (n.*429T>G)
c.434T>G (p.Val145Gly)
n.200-4241T>G
c.641T>G (p.Val214Gly)
c.638T>G (p.Val213Gly)
c.399+2193T>G (n.399+2193T>G)
n.540+2193T>G
Xg.154558570G>ACA519284539IKBKGc.402G>A (p.Val134=)
c.438G>A (p.Val146=)
c.36G>A (p.Val12=)
n.810G>A
n.813G>A
c.*430G>A (n.*430G>A)
c.435G>A (p.Val145=)
n.200-4240G>A
c.642G>A (p.Val214=)
c.639G>A (p.Val213=)
c.399+2194G>A (n.399+2194G>A)
n.540+2194G>A
 gnomAD v4
Xg.154558570G>CCA519284540IKBKGc.402G>C (p.Val134=)
c.438G>C (p.Val146=)
c.36G>C (p.Val12=)
n.810G>C
n.813G>C
c.*430G>C (n.*430G>C)
c.435G>C (p.Val145=)
n.200-4240G>C
c.642G>C (p.Val214=)
c.639G>C (p.Val213=)
c.399+2194G>C (n.399+2194G>C)
n.540+2194G>C
Xg.154558570G>TCA519284542IKBKGc.402G>T (p.Val134=)
c.438G>T (p.Val146=)
c.36G>T (p.Val12=)
n.810G>T
n.813G>T
c.*430G>T (n.*430G>T)
c.435G>T (p.Val145=)
n.200-4240G>T
c.642G>T (p.Val214=)
c.639G>T (p.Val213=)
c.399+2194G>T (n.399+2194G>T)
n.540+2194G>T
Xg.154558571A>CCA415214014IKBKGc.403A>C (p.Thr135Pro)
c.439A>C (p.Thr147Pro)
c.37A>C (p.Thr13Pro)
n.811A>C
n.814A>C
c.*431A>C (n.*431A>C)
c.436A>C (p.Thr146Pro)
n.200-4239A>C
c.643A>C (p.Thr215Pro)
c.640A>C (p.Thr214Pro)
c.399+2195A>C (n.399+2195A>C)
n.540+2195A>C
Xg.154558571A>GCA415214021IKBKGc.403A>G (p.Thr135Ala)
c.439A>G (p.Thr147Ala)
c.37A>G (p.Thr13Ala)
n.811A>G
n.814A>G
c.*431A>G (n.*431A>G)
c.436A>G (p.Thr146Ala)
n.200-4239A>G
c.643A>G (p.Thr215Ala)
c.640A>G (p.Thr214Ala)
c.399+2195A>G (n.399+2195A>G)
n.540+2195A>G
 gnomAD v4
Xg.154558571A>TCA415214018IKBKGc.403A>T (p.Thr135Ser)
c.439A>T (p.Thr147Ser)
c.37A>T (p.Thr13Ser)
n.811A>T
n.814A>T
c.*431A>T (n.*431A>T)
c.436A>T (p.Thr146Ser)
n.200-4239A>T
c.643A>T (p.Thr215Ser)
c.640A>T (p.Thr214Ser)
c.399+2195A>T (n.399+2195A>T)
n.540+2195A>T
Xg.154558572C>ACA415214025IKBKGc.404C>A (p.Thr135Lys)
c.440C>A (p.Thr147Lys)
c.38C>A (p.Thr13Lys)
n.812C>A
n.815C>A
c.*432C>A (n.*432C>A)
c.437C>A (p.Thr146Lys)
n.200-4238C>A
c.644C>A (p.Thr215Lys)
c.641C>A (p.Thr214Lys)
c.399+2196C>A (n.399+2196C>A)
n.540+2196C>A
Xg.154558572C=CA2466732897IKBKGc.404C= (p.Thr135=)
c.440C= (p.Thr147=)
c.38C= (p.Thr13=)
n.812C=
n.815C=
c.*432C= (n.*432C=)
c.437C= (p.Thr146=)
n.200-4238C=
c.644C= (p.Thr215=)
c.641C= (p.Thr214=)
c.399+2196C= (n.399+2196C=)
n.540+2196C=
Xg.154558572C>GCA415214028IKBKGc.404C>G (p.Thr135Arg)
c.440C>G (p.Thr147Arg)
c.38C>G (p.Thr13Arg)
n.812C>G
n.815C>G
c.*432C>G (n.*432C>G)
c.437C>G (p.Thr146Arg)
n.200-4238C>G
c.644C>G (p.Thr215Arg)
c.641C>G (p.Thr214Arg)
c.399+2196C>G (n.399+2196C>G)
n.540+2196C>G
Xg.154558572C>TCA415214030IKBKGc.404C>T (p.Thr135Met)
c.440C>T (p.Thr147Met)
c.38C>T (p.Thr13Met)
n.812C>T
n.815C>T
c.*432C>T (n.*432C>T)
c.437C>T (p.Thr146Met)
n.200-4238C>T
c.644C>T (p.Thr215Met)
c.641C>T (p.Thr214Met)
c.399+2196C>T (n.399+2196C>T)
n.540+2196C>T
 ClinVar dbSNP gnomAD v4
Xg.154558573G>ACA519284549IKBKGc.405G>A (p.Thr135=)
c.441G>A (p.Thr147=)
c.39G>A (p.Thr13=)
n.813G>A
n.816G>A
c.*433G>A (n.*433G>A)
c.438G>A (p.Thr146=)
n.200-4237G>A
c.645G>A (p.Thr215=)
c.642G>A (p.Thr214=)
c.399+2197G>A (n.399+2197G>A)
n.540+2197G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.154558573G>CCA519284552IKBKGc.405G>C (p.Thr135=)
c.441G>C (p.Thr147=)
c.39G>C (p.Thr13=)
n.813G>C
n.816G>C
c.*433G>C (n.*433G>C)
c.438G>C (p.Thr146=)
n.200-4237G>C
c.645G>C (p.Thr215=)
c.642G>C (p.Thr214=)
c.399+2197G>C (n.399+2197G>C)
n.540+2197G>C
Xg.154558573G=CA2466732898IKBKGc.405G= (p.Thr135=)
c.441G= (p.Thr147=)
c.39G= (p.Thr13=)
n.813G=
n.816G=
c.*433G= (n.*433G=)
c.438G= (p.Thr146=)
n.200-4237G=
c.645G= (p.Thr215=)
c.642G= (p.Thr214=)
c.399+2197G= (n.399+2197G=)
n.540+2197G=
Xg.154558573G>TCA519284554IKBKGc.405G>T (p.Thr135=)
c.441G>T (p.Thr147=)
c.39G>T (p.Thr13=)
n.813G>T
n.816G>T
c.*433G>T (n.*433G>T)
c.438G>T (p.Thr146=)
n.200-4237G>T
c.645G>T (p.Thr215=)
c.642G>T (p.Thr214=)
c.399+2197G>T (n.399+2197G>T)
n.540+2197G>T
Xg.154558574T>ACA415214034IKBKGc.406T>A (p.Ser136Thr)
c.442T>A (p.Ser148Thr)
c.40T>A (p.Ser14Thr)
n.814T>A
n.817T>A
c.*434T>A (n.*434T>A)
c.439T>A (p.Ser147Thr)
n.200-4236T>A
c.646T>A (p.Ser216Thr)
c.643T>A (p.Ser215Thr)
c.399+2198T>A (n.399+2198T>A)
n.540+2198T>A
Xg.154558574T>CCA415214036IKBKGc.406T>C (p.Ser136Pro)
c.442T>C (p.Ser148Pro)
c.40T>C (p.Ser14Pro)
n.814T>C
n.817T>C
c.*434T>C (n.*434T>C)
c.439T>C (p.Ser147Pro)
n.200-4236T>C
c.646T>C (p.Ser216Pro)
c.643T>C (p.Ser215Pro)
c.399+2198T>C (n.399+2198T>C)
n.540+2198T>C
Xg.154558574T>GCA415214041IKBKGc.406T>G (p.Ser136Ala)
c.442T>G (p.Ser148Ala)
c.40T>G (p.Ser14Ala)
n.814T>G
n.817T>G
c.*434T>G (n.*434T>G)
c.439T>G (p.Ser147Ala)
n.200-4236T>G
c.646T>G (p.Ser216Ala)
c.643T>G (p.Ser215Ala)
c.399+2198T>G (n.399+2198T>G)
n.540+2198T>G
Xg.154558575C>ACA415214044IKBKGc.407C>A (p.Ser136Tyr)
c.443C>A (p.Ser148Tyr)
c.41C>A (p.Ser14Tyr)
n.815C>A
n.818C>A
c.*435C>A (n.*435C>A)
c.440C>A (p.Ser147Tyr)
n.200-4235C>A
c.647C>A (p.Ser216Tyr)
c.644C>A (p.Ser215Tyr)
c.399+2199C>A (n.399+2199C>A)
n.540+2199C>A
Xg.154558575C>GCA415214048IKBKGc.407C>G (p.Ser136Cys)
c.443C>G (p.Ser148Cys)
c.41C>G (p.Ser14Cys)
n.815C>G
n.818C>G
c.*435C>G (n.*435C>G)
c.440C>G (p.Ser147Cys)
n.200-4235C>G
c.647C>G (p.Ser216Cys)
c.644C>G (p.Ser215Cys)
c.399+2199C>G (n.399+2199C>G)
n.540+2199C>G
Xg.154558575C>TCA415214051IKBKGc.407C>T (p.Ser136Phe)
c.443C>T (p.Ser148Phe)
c.41C>T (p.Ser14Phe)
n.815C>T
n.818C>T
c.*435C>T (n.*435C>T)
c.440C>T (p.Ser147Phe)
n.200-4235C>T
c.647C>T (p.Ser216Phe)
c.644C>T (p.Ser215Phe)
c.399+2199C>T (n.399+2199C>T)
n.540+2199C>T
Xg.154558576C>ACA519284564IKBKGc.408C>A (p.Ser136=)
c.444C>A (p.Ser148=)
c.42C>A (p.Ser14=)
n.816C>A
n.819C>A
c.*436C>A (n.*436C>A)
c.441C>A (p.Ser147=)
n.200-4234C>A
c.648C>A (p.Ser216=)
c.645C>A (p.Ser215=)
c.399+2200C>A (n.399+2200C>A)
n.540+2200C>A
Xg.154558576C>GCA519284567IKBKGc.408C>G (p.Ser136=)
c.444C>G (p.Ser148=)
c.42C>G (p.Ser14=)
n.816C>G
n.819C>G
c.*436C>G (n.*436C>G)
c.441C>G (p.Ser147=)
n.200-4234C>G
c.648C>G (p.Ser216=)
c.645C>G (p.Ser215=)
c.399+2200C>G (n.399+2200C>G)
n.540+2200C>G
Xg.154558576C>TCA519284569IKBKGc.408C>T (p.Ser136=)
c.444C>T (p.Ser148=)
c.42C>T (p.Ser14=)
n.816C>T
n.819C>T
c.*436C>T (n.*436C>T)
c.441C>T (p.Ser147=)
n.200-4234C>T
c.648C>T (p.Ser216=)
c.645C>T (p.Ser215=)
c.399+2200C>T (n.399+2200C>T)
n.540+2200C>T
 gnomAD v4
Xg.154558577T>ACA415214052IKBKGc.409T>A (p.Leu137Met)
c.445T>A (p.Leu149Met)
c.43T>A (p.Leu15Met)
n.817T>A
n.820T>A
c.*437T>A (n.*437T>A)
c.442T>A (p.Leu148Met)
n.200-4233T>A
c.649T>A (p.Leu217Met)
c.646T>A (p.Leu216Met)
c.399+2201T>A (n.399+2201T>A)
n.540+2201T>A
Xg.154558577T>CCA519284572IKBKGc.409T>C (p.Leu137=)
c.445T>C (p.Leu149=)
c.43T>C (p.Leu15=)
n.817T>C
n.820T>C
c.*437T>C (n.*437T>C)
c.442T>C (p.Leu148=)
n.200-4233T>C
c.649T>C (p.Leu217=)
c.646T>C (p.Leu216=)
c.399+2201T>C (n.399+2201T>C)
n.540+2201T>C
Xg.154558577T>GCA415214053IKBKGc.409T>G (p.Leu137Val)
c.445T>G (p.Leu149Val)
c.43T>G (p.Leu15Val)
n.817T>G
n.820T>G
c.*437T>G (n.*437T>G)
c.442T>G (p.Leu148Val)
n.200-4233T>G
c.649T>G (p.Leu217Val)
c.646T>G (p.Leu216Val)
c.399+2201T>G (n.399+2201T>G)
n.540+2201T>G
Xg.154558578T>ACA415214059IKBKGc.410T>A (p.Leu137Ter)
c.446T>A (p.Leu149Ter)
c.44T>A (p.Leu15Ter)
n.818T>A
n.821T>A
c.*438T>A (n.*438T>A)
c.443T>A (p.Leu148Ter)
n.200-4232T>A
c.650T>A (p.Leu217Ter)
c.647T>A (p.Leu216Ter)
c.399+2202T>A (n.399+2202T>A)
n.540+2202T>A
Xg.154558578T>CCA415214057IKBKGc.410T>C (p.Leu137Ser)
c.446T>C (p.Leu149Ser)
c.44T>C (p.Leu15Ser)
n.818T>C
n.821T>C
c.*438T>C (n.*438T>C)
c.443T>C (p.Leu148Ser)
n.200-4232T>C
c.650T>C (p.Leu217Ser)
c.647T>C (p.Leu216Ser)
c.399+2202T>C (n.399+2202T>C)
n.540+2202T>C
Xg.154558578T>GCA415214056IKBKGc.410T>G (p.Leu137Trp)
c.446T>G (p.Leu149Trp)
c.44T>G (p.Leu15Trp)
n.818T>G
n.821T>G
c.*438T>G (n.*438T>G)
c.443T>G (p.Leu148Trp)
n.200-4232T>G
c.650T>G (p.Leu217Trp)
c.647T>G (p.Leu216Trp)
c.399+2202T>G (n.399+2202T>G)
n.540+2202T>G
Xg.154558579G>ACA519284577IKBKGc.411G>A (p.Leu137=)
c.447G>A (p.Leu149=)
c.45G>A (p.Leu15=)
n.819G>A
n.822G>A
c.*439G>A (n.*439G>A)
c.444G>A (p.Leu148=)
n.200-4231G>A
c.651G>A (p.Leu217=)
c.648G>A (p.Leu216=)
c.399+2203G>A (n.399+2203G>A)
n.540+2203G>A
 dbSNP
Xg.154558579G>CCA415214061IKBKGc.411G>C (p.Leu137Phe)
c.447G>C (p.Leu149Phe)
c.45G>C (p.Leu15Phe)
n.819G>C
n.822G>C
c.*439G>C (n.*439G>C)
c.444G>C (p.Leu148Phe)
n.200-4231G>C
c.651G>C (p.Leu217Phe)
c.648G>C (p.Leu216Phe)
c.399+2203G>C (n.399+2203G>C)
n.540+2203G>C
 dbSNP gnomAD v3 gnomAD v4
Xg.154558579G=CA2466732899IKBKGc.411G= (p.Leu137=)
c.447G= (p.Leu149=)
c.45G= (p.Leu15=)
n.819G=
n.822G=
c.*439G= (n.*439G=)
c.444G= (p.Leu148=)
n.200-4231G=
c.651G= (p.Leu217=)
c.648G= (p.Leu216=)
c.399+2203G= (n.399+2203G=)
n.540+2203G=
Xg.154558579G>TCA415214063IKBKGc.411G>T (p.Leu137Phe)
c.447G>T (p.Leu149Phe)
c.45G>T (p.Leu15Phe)
n.819G>T
n.822G>T
c.*439G>T (n.*439G>T)
c.444G>T (p.Leu148Phe)
n.200-4231G>T
c.651G>T (p.Leu217Phe)
c.648G>T (p.Leu216Phe)
c.399+2203G>T (n.399+2203G>T)
n.540+2203G>T
Xg.154558580C>ACA415214067IKBKGc.412C>A (p.Leu138Ile)
c.448C>A (p.Leu150Ile)
c.46C>A (p.Leu16Ile)
n.820C>A
n.823C>A
c.*440C>A (n.*440C>A)
c.445C>A (p.Leu149Ile)
n.200-4230C>A
c.652C>A (p.Leu218Ile)
c.649C>A (p.Leu217Ile)
c.399+2204C>A (n.399+2204C>A)
n.540+2204C>A
Xg.154558580C>GCA415214069IKBKGc.412C>G (p.Leu138Val)
c.448C>G (p.Leu150Val)
c.46C>G (p.Leu16Val)
n.820C>G
n.823C>G
c.*440C>G (n.*440C>G)
c.445C>G (p.Leu149Val)
n.200-4230C>G
c.652C>G (p.Leu218Val)
c.649C>G (p.Leu217Val)
c.399+2204C>G (n.399+2204C>G)
n.540+2204C>G
Xg.154558580C>TCA415214071IKBKGc.412C>T (p.Leu138Phe)
c.448C>T (p.Leu150Phe)
c.46C>T (p.Leu16Phe)
n.820C>T
n.823C>T
c.*440C>T (n.*440C>T)
c.445C>T (p.Leu149Phe)
n.200-4230C>T
c.652C>T (p.Leu218Phe)
c.649C>T (p.Leu217Phe)
c.399+2204C>T (n.399+2204C>T)
n.540+2204C>T
Xg.154558581T>ACA415214074IKBKGc.413T>A (p.Leu138His)
c.449T>A (p.Leu150His)
c.47T>A (p.Leu16His)
n.821T>A
n.824T>A
c.*441T>A (n.*441T>A)
c.446T>A (p.Leu149His)
n.200-4229T>A
c.653T>A (p.Leu218His)
c.650T>A (p.Leu217His)
c.399+2205T>A (n.399+2205T>A)
n.540+2205T>A
Xg.154558581T>CCA415214075IKBKGc.413T>C (p.Leu138Pro)
c.449T>C (p.Leu150Pro)
c.47T>C (p.Leu16Pro)
n.821T>C
n.824T>C
c.*441T>C (n.*441T>C)
c.446T>C (p.Leu149Pro)
n.200-4229T>C
c.653T>C (p.Leu218Pro)
c.650T>C (p.Leu217Pro)
c.399+2205T>C (n.399+2205T>C)
n.540+2205T>C
Xg.154558581T>GCA415214077IKBKGc.413T>G (p.Leu138Arg)
c.449T>G (p.Leu150Arg)
c.47T>G (p.Leu16Arg)
n.821T>G
n.824T>G
c.*441T>G (n.*441T>G)
c.446T>G (p.Leu149Arg)
n.200-4229T>G
c.653T>G (p.Leu218Arg)
c.650T>G (p.Leu217Arg)
c.399+2205T>G (n.399+2205T>G)
n.540+2205T>G
Xg.154558582C>ACA519284587IKBKGc.414C>A (p.Leu138=)
c.450C>A (p.Leu150=)
c.48C>A (p.Leu16=)
n.822C>A
n.825C>A
c.*442C>A (n.*442C>A)
c.447C>A (p.Leu149=)
n.200-4228C>A
c.654C>A (p.Leu218=)
c.651C>A (p.Leu217=)
c.399+2206C>A (n.399+2206C>A)
n.540+2206C>A
 gnomAD v4
Xg.154558582C=CA2466732900IKBKGc.414C= (p.Leu138=)
c.450C= (p.Leu150=)
c.48C= (p.Leu16=)
n.822C=
n.825C=
c.*442C= (n.*442C=)
c.447C= (p.Leu149=)
n.200-4228C=
c.654C= (p.Leu218=)
c.651C= (p.Leu217=)
c.399+2206C= (n.399+2206C=)
n.540+2206C=
Xg.154558582C>GCA519284588IKBKGc.414C>G (p.Leu138=)
c.450C>G (p.Leu150=)
c.48C>G (p.Leu16=)
n.822C>G
n.825C>G
c.*442C>G (n.*442C>G)
c.447C>G (p.Leu149=)
n.200-4228C>G
c.654C>G (p.Leu218=)
c.651C>G (p.Leu217=)
c.399+2206C>G (n.399+2206C>G)
n.540+2206C>G
Xg.154558582C>TCA519284589IKBKGc.414C>T (p.Leu138=)
c.450C>T (p.Leu150=)
c.48C>T (p.Leu16=)
n.822C>T
n.825C>T
c.*442C>T (n.*442C>T)
c.447C>T (p.Leu149=)
n.200-4228C>T
c.654C>T (p.Leu218=)
c.651C>T (p.Leu217=)
c.399+2206C>T (n.399+2206C>T)
n.540+2206C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.154558583G>ACA415214081IKBKGc.415G>A (p.Gly139Arg)
c.451G>A (p.Gly151Arg)
c.49G>A (p.Gly17Arg)
n.823G>A
n.826G>A
c.*443G>A (n.*443G>A)
c.448G>A (p.Gly150Arg)
n.200-4227G>A
c.655G>A (p.Gly219Arg)
c.652G>A (p.Gly218Arg)
c.399+2207G>A (n.399+2207G>A)
n.540+2207G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.154558583G>CCA415214083IKBKGc.415G>C (p.Gly139Arg)
c.451G>C (p.Gly151Arg)
c.49G>C (p.Gly17Arg)
n.823G>C
n.826G>C
c.*443G>C (n.*443G>C)
c.448G>C (p.Gly150Arg)
n.200-4227G>C
c.655G>C (p.Gly219Arg)
c.652G>C (p.Gly218Arg)
c.399+2207G>C (n.399+2207G>C)
n.540+2207G>C
Xg.154558583G=CA2466732901IKBKGc.415G= (p.Gly139=)
c.451G= (p.Gly151=)
c.49G= (p.Gly17=)
n.823G=
n.826G=
c.*443G= (n.*443G=)
c.448G= (p.Gly150=)
n.200-4227G=
c.655G= (p.Gly219=)
c.652G= (p.Gly218=)
c.399+2207G= (n.399+2207G=)
n.540+2207G=
Xg.154558583G>TCA415214085IKBKGc.415G>T (p.Gly139Trp)
c.451G>T (p.Gly151Trp)
c.49G>T (p.Gly17Trp)
n.823G>T
n.826G>T
c.*443G>T (n.*443G>T)
c.448G>T (p.Gly150Trp)
n.200-4227G>T
c.655G>T (p.Gly219Trp)
c.652G>T (p.Gly218Trp)
c.399+2207G>T (n.399+2207G>T)
n.540+2207G>T
Xg.154558586delCA2573119313IKBKGc.418del (p.Glu140SerfsTer?)
c.454del (p.Glu152SerfsTer?)
c.52del (p.Glu18SerfsTer?)
n.826del
n.829del
c.*446del (n.*446del)
c.451del (p.Glu151SerfsTer?)
n.200-4224del
c.658del (p.Glu220SerfsTer?)
c.655del (p.Glu219SerfsTer?)
c.399+2210del (n.399+2210del)
n.540+2210del
Xg.154558584G>ACA415214090IKBKGc.416G>A (p.Gly139Glu)
c.452G>A (p.Gly151Glu)
c.50G>A (p.Gly17Glu)
n.824G>A
n.827G>A
c.*444G>A (n.*444G>A)
c.449G>A (p.Gly150Glu)
n.200-4226G>A
c.656G>A (p.Gly219Glu)
c.653G>A (p.Gly218Glu)
c.399+2208G>A (n.399+2208G>A)
n.540+2208G>A
Xg.154558584G>CCA415214089IKBKGc.416G>C (p.Gly139Ala)
c.452G>C (p.Gly151Ala)
c.50G>C (p.Gly17Ala)
n.824G>C
n.827G>C
c.*444G>C (n.*444G>C)
c.449G>C (p.Gly150Ala)
n.200-4226G>C
c.656G>C (p.Gly219Ala)
c.653G>C (p.Gly218Ala)
c.399+2208G>C (n.399+2208G>C)
n.540+2208G>C
Xg.154558584G>TCA415214087IKBKGc.416G>T (p.Gly139Val)
c.452G>T (p.Gly151Val)
c.50G>T (p.Gly17Val)
n.824G>T
n.827G>T
c.*444G>T (n.*444G>T)
c.449G>T (p.Gly150Val)
n.200-4226G>T
c.656G>T (p.Gly219Val)
c.653G>T (p.Gly218Val)
c.399+2208G>T (n.399+2208G>T)
n.540+2208G>T
Xg.154558585G>ACA519284600IKBKGc.417G>A (p.Gly139=)
c.453G>A (p.Gly151=)
c.51G>A (p.Gly17=)
n.825G>A
n.828G>A
c.*445G>A (n.*445G>A)
c.450G>A (p.Gly150=)
n.200-4225G>A
c.657G>A (p.Gly219=)
c.654G>A (p.Gly218=)
c.399+2209G>A (n.399+2209G>A)
n.540+2209G>A
Xg.154558585G>CCA519284597IKBKGc.417G>C (p.Gly139=)
c.453G>C (p.Gly151=)
c.51G>C (p.Gly17=)
n.825G>C
n.828G>C
c.*445G>C (n.*445G>C)
c.450G>C (p.Gly150=)
n.200-4225G>C
c.657G>C (p.Gly219=)
c.654G>C (p.Gly218=)
c.399+2209G>C (n.399+2209G>C)
n.540+2209G>C
Xg.154558585G>TCA519284595IKBKGc.417G>T (p.Gly139=)
c.453G>T (p.Gly151=)
c.51G>T (p.Gly17=)
n.825G>T
n.828G>T
c.*445G>T (n.*445G>T)
c.450G>T (p.Gly150=)
n.200-4225G>T
c.657G>T (p.Gly219=)
c.654G>T (p.Gly218=)
c.399+2209G>T (n.399+2209G>T)
n.540+2209G>T
Xg.154558586G>ACA415214093IKBKGc.418G>A (p.Glu140Lys)
c.454G>A (p.Glu152Lys)
c.52G>A (p.Glu18Lys)
n.826G>A
n.829G>A
c.*446G>A (n.*446G>A)
c.451G>A (p.Glu151Lys)
n.200-4224G>A
c.658G>A (p.Glu220Lys)
c.655G>A (p.Glu219Lys)
c.399+2210G>A (n.399+2210G>A)
n.540+2210G>A
Xg.154558586G>CCA415214096IKBKGc.418G>C (p.Glu140Gln)
c.454G>C (p.Glu152Gln)
c.52G>C (p.Glu18Gln)
n.826G>C
n.829G>C
c.*446G>C (n.*446G>C)
c.451G>C (p.Glu151Gln)
n.200-4224G>C
c.658G>C (p.Glu220Gln)
c.655G>C (p.Glu219Gln)
c.399+2210G>C (n.399+2210G>C)
n.540+2210G>C
Xg.154558586G>TCA415214094IKBKGc.418G>T (p.Glu140Ter)
c.454G>T (p.Glu152Ter)
c.52G>T (p.Glu18Ter)
n.826G>T
n.829G>T
c.*446G>T (n.*446G>T)
c.451G>T (p.Glu151Ter)
n.200-4224G>T
c.658G>T (p.Glu220Ter)
c.655G>T (p.Glu219Ter)
c.399+2210G>T (n.399+2210G>T)
n.540+2210G>T
Xg.154558587A>CCA415214099IKBKGc.419A>C (p.Glu140Ala)
c.455A>C (p.Glu152Ala)
c.53A>C (p.Glu18Ala)
n.827A>C
n.830A>C
c.*447A>C (n.*447A>C)
c.452A>C (p.Glu151Ala)
n.200-4223A>C
c.659A>C (p.Glu220Ala)
c.656A>C (p.Glu219Ala)
c.399+2211A>C (n.399+2211A>C)
n.540+2211A>C
Xg.154558587A>GCA415214100IKBKGc.419A>G (p.Glu140Gly)
c.455A>G (p.Glu152Gly)
c.53A>G (p.Glu18Gly)
n.827A>G
n.830A>G
c.*447A>G (n.*447A>G)
c.452A>G (p.Glu151Gly)
n.200-4223A>G
c.659A>G (p.Glu220Gly)
c.656A>G (p.Glu219Gly)
c.399+2211A>G (n.399+2211A>G)
n.540+2211A>G
Xg.154558587A>TCA415214103IKBKGc.419A>T (p.Glu140Val)
c.455A>T (p.Glu152Val)
c.53A>T (p.Glu18Val)
n.827A>T
n.830A>T
c.*447A>T (n.*447A>T)
c.452A>T (p.Glu151Val)
n.200-4223A>T
c.659A>T (p.Glu220Val)
c.656A>T (p.Glu219Val)
c.399+2211A>T (n.399+2211A>T)
n.540+2211A>T
Xg.154558588G>ACA519284609IKBKGc.420G>A (p.Glu140=)
c.456G>A (p.Glu152=)
c.54G>A (p.Glu18=)
n.828G>A
n.831G>A
c.*448G>A (n.*448G>A)
c.453G>A (p.Glu151=)
n.200-4222G>A
c.660G>A (p.Glu220=)
c.657G>A (p.Glu219=)
c.399+2212G>A (n.399+2212G>A)
n.540+2212G>A
 gnomAD v4
Xg.154558588G>CCA415214105IKBKGc.420G>C (p.Glu140Asp)
c.456G>C (p.Glu152Asp)
c.54G>C (p.Glu18Asp)
n.828G>C
n.831G>C
c.*448G>C (n.*448G>C)
c.453G>C (p.Glu151Asp)
n.200-4222G>C
c.660G>C (p.Glu220Asp)
c.657G>C (p.Glu219Asp)
c.399+2212G>C (n.399+2212G>C)
n.540+2212G>C
Xg.154558588G>TCA415214107IKBKGc.420G>T (p.Glu140Asp)
c.456G>T (p.Glu152Asp)
c.54G>T (p.Glu18Asp)
n.828G>T
n.831G>T
c.*448G>T (n.*448G>T)
c.453G>T (p.Glu151Asp)
n.200-4222G>T
c.660G>T (p.Glu220Asp)
c.657G>T (p.Glu219Asp)
c.399+2212G>T (n.399+2212G>T)
n.540+2212G>T
Xg.154558589C>ACA415214109IKBKGc.421C>A (p.Leu141Met)
c.457C>A (p.Leu153Met)
c.55C>A (p.Leu19Met)
n.829C>A
n.832C>A
c.*449C>A (n.*449C>A)
c.454C>A (p.Leu152Met)
n.200-4221C>A
c.661C>A (p.Leu221Met)
c.658C>A (p.Leu220Met)
c.399+2213C>A (n.399+2213C>A)
n.540+2213C>A
Xg.154558589C>GCA415214111IKBKGc.421C>G (p.Leu141Val)
c.457C>G (p.Leu153Val)
c.55C>G (p.Leu19Val)
n.829C>G
n.832C>G
c.*449C>G (n.*449C>G)
c.454C>G (p.Leu152Val)
n.200-4221C>G
c.661C>G (p.Leu221Val)
c.658C>G (p.Leu220Val)
c.399+2213C>G (n.399+2213C>G)
n.540+2213C>G
 gnomAD v4
Xg.154558589C>TCA519284614IKBKGc.421C>T (p.Leu141=)
c.457C>T (p.Leu153=)
c.55C>T (p.Leu19=)
n.829C>T
n.832C>T
c.*449C>T (n.*449C>T)
c.454C>T (p.Leu152=)
n.200-4221C>T
c.661C>T (p.Leu221=)
c.658C>T (p.Leu220=)
c.399+2213C>T (n.399+2213C>T)
n.540+2213C>T
 gnomAD v4
Xg.154558590T>ACA415214114IKBKGc.422T>A (p.Leu141Gln)
c.458T>A (p.Leu153Gln)
c.56T>A (p.Leu19Gln)
n.830T>A
n.833T>A
c.*450T>A (n.*450T>A)
c.455T>A (p.Leu152Gln)
n.200-4220T>A
c.662T>A (p.Leu221Gln)
c.659T>A (p.Leu220Gln)
c.399+2214T>A (n.399+2214T>A)
n.540+2214T>A
Xg.154558590T>CCA415214116IKBKGc.422T>C (p.Leu141Pro)
c.458T>C (p.Leu153Pro)
c.56T>C (p.Leu19Pro)
n.830T>C
n.833T>C
c.*450T>C (n.*450T>C)
c.455T>C (p.Leu152Pro)
n.200-4220T>C
c.662T>C (p.Leu221Pro)
c.659T>C (p.Leu220Pro)
c.399+2214T>C (n.399+2214T>C)
n.540+2214T>C
Xg.154558590T>GCA121482IKBKGc.422T>G (p.Leu141Arg)
c.458T>G (p.Leu153Arg)
c.56T>G (p.Leu19Arg)
n.830T>G
n.833T>G
c.*450T>G (n.*450T>G)
c.455T>G (p.Leu152Arg)
n.200-4220T>G
c.662T>G (p.Leu221Arg)
c.659T>G (p.Leu220Arg)
c.399+2214T>G (n.399+2214T>G)
n.540+2214T>G
 ClinVar dbSNP
Xg.154558590T=CA2466732902IKBKGc.422T= (p.Leu141=)
c.458T= (p.Leu153=)
c.56T= (p.Leu19=)
n.830T=
n.833T=
c.*450T= (n.*450T=)
c.455T= (p.Leu152=)
n.200-4220T=
c.662T= (p.Leu221=)
c.659T= (p.Leu220=)
c.399+2214T= (n.399+2214T=)
n.540+2214T=
Xg.154558591G>ACA519284621IKBKGc.423G>A (p.Leu141=)
c.459G>A (p.Leu153=)
c.57G>A (p.Leu19=)
n.831G>A
n.834G>A
c.*451G>A (n.*451G>A)
c.456G>A (p.Leu152=)
n.200-4219G>A
c.663G>A (p.Leu221=)
c.660G>A (p.Leu220=)
c.399+2215G>A (n.399+2215G>A)
n.540+2215G>A
Xg.154558591G>CCA519284625IKBKGc.423G>C (p.Leu141=)
c.459G>C (p.Leu153=)
c.57G>C (p.Leu19=)
n.831G>C
n.834G>C
c.*451G>C (n.*451G>C)
c.456G>C (p.Leu152=)
n.200-4219G>C
c.663G>C (p.Leu221=)
c.660G>C (p.Leu220=)
c.399+2215G>C (n.399+2215G>C)
n.540+2215G>C
Xg.154558591G>TCA519284623IKBKGc.423G>T (p.Leu141=)
c.459G>T (p.Leu153=)
c.57G>T (p.Leu19=)
n.831G>T
n.834G>T
c.*451G>T (n.*451G>T)
c.456G>T (p.Leu152=)
n.200-4219G>T
c.663G>T (p.Leu221=)
c.660G>T (p.Leu220=)
c.399+2215G>T (n.399+2215G>T)
n.540+2215G>T
Xg.154558592C>ACA415214120IKBKGc.424C>A (p.Gln142Lys)
c.460C>A (p.Gln154Lys)
c.58C>A (p.Gln20Lys)
n.832C>A
n.835C>A
c.*452C>A (n.*452C>A)
c.457C>A (p.Gln153Lys)
n.200-4218C>A
c.664C>A (p.Gln222Lys)
c.661C>A (p.Gln221Lys)
c.399+2216C>A (n.399+2216C>A)
n.540+2216C>A
 dbSNP gnomAD v3 gnomAD v4
Xg.154558592C=CA2466732903IKBKGc.424C= (p.Gln142=)
c.460C= (p.Gln154=)
c.58C= (p.Gln20=)
n.832C=
n.835C=
c.*452C= (n.*452C=)
c.457C= (p.Gln153=)
n.200-4218C=
c.664C= (p.Gln222=)
c.661C= (p.Gln221=)
c.399+2216C= (n.399+2216C=)
n.540+2216C=
Xg.154558592C>GCA415214122IKBKGc.424C>G (p.Gln142Glu)
c.460C>G (p.Gln154Glu)
c.58C>G (p.Gln20Glu)
n.832C>G
n.835C>G
c.*452C>G (n.*452C>G)
c.457C>G (p.Gln153Glu)
n.200-4218C>G
c.664C>G (p.Gln222Glu)
c.661C>G (p.Gln221Glu)
c.399+2216C>G (n.399+2216C>G)
n.540+2216C>G
Xg.154558592C>TCA415214124IKBKGc.424C>T (p.Gln142Ter)
c.460C>T (p.Gln154Ter)
c.58C>T (p.Gln20Ter)
n.832C>T
n.835C>T
c.*452C>T (n.*452C>T)
c.457C>T (p.Gln153Ter)
n.200-4218C>T
c.664C>T (p.Gln222Ter)
c.661C>T (p.Gln221Ter)
c.399+2216C>T (n.399+2216C>T)
n.540+2216C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.154558593A>CCA415214129IKBKGc.425A>C (p.Gln142Pro)
c.461A>C (p.Gln154Pro)
c.59A>C (p.Gln20Pro)
n.833A>C
n.836A>C
c.*453A>C (n.*453A>C)
c.458A>C (p.Gln153Pro)
n.200-4217A>C
c.665A>C (p.Gln222Pro)
c.662A>C (p.Gln221Pro)
c.399+2217A>C (n.399+2217A>C)
n.540+2217A>C
Xg.154558593A>GCA415214127IKBKGc.425A>G (p.Gln142Arg)
c.461A>G (p.Gln154Arg)
c.59A>G (p.Gln20Arg)
n.833A>G
n.836A>G
c.*453A>G (n.*453A>G)
c.458A>G (p.Gln153Arg)
n.200-4217A>G
c.665A>G (p.Gln222Arg)
c.662A>G (p.Gln221Arg)
c.399+2217A>G (n.399+2217A>G)
n.540+2217A>G
Xg.154558593A>TCA415214125IKBKGc.425A>T (p.Gln142Leu)
c.461A>T (p.Gln154Leu)
c.59A>T (p.Gln20Leu)
n.833A>T
n.836A>T
c.*453A>T (n.*453A>T)
c.458A>T (p.Gln153Leu)
n.200-4217A>T
c.665A>T (p.Gln222Leu)
c.662A>T (p.Gln221Leu)
c.399+2217A>T (n.399+2217A>T)
n.540+2217A>T
Xg.154558594G>ACA519284631IKBKGc.426G>A (p.Gln142=)
c.462G>A (p.Gln154=)
c.60G>A (p.Gln20=)
n.834G>A
n.837G>A
c.*454G>A (n.*454G>A)
c.459G>A (p.Gln153=)
n.200-4216G>A
c.666G>A (p.Gln222=)
c.663G>A (p.Gln221=)
c.399+2218G>A (n.399+2218G>A)
n.540+2218G>A
Xg.154558594G>CCA415214131IKBKGc.426G>C (p.Gln142His)
c.462G>C (p.Gln154His)
c.60G>C (p.Gln20His)
n.834G>C
n.837G>C
c.*454G>C (n.*454G>C)
c.459G>C (p.Gln153His)
n.200-4216G>C
c.666G>C (p.Gln222His)
c.663G>C (p.Gln221His)
c.399+2218G>C (n.399+2218G>C)
n.540+2218G>C
Xg.154558594G>TCA415214133IKBKGc.426G>T (p.Gln142His)
c.462G>T (p.Gln154His)
c.60G>T (p.Gln20His)
n.834G>T
n.837G>T
c.*454G>T (n.*454G>T)
c.459G>T (p.Gln153His)
n.200-4216G>T
c.666G>T (p.Gln222His)
c.663G>T (p.Gln221His)
c.399+2218G>T (n.399+2218G>T)
n.540+2218G>T
Xg.154558595G>ACA415214136IKBKGc.427G>A (p.Glu143Lys)
c.463G>A (p.Glu155Lys)
c.61G>A (p.Glu21Lys)
n.835G>A
n.838G>A
c.*455G>A (n.*455G>A)
c.460G>A (p.Glu154Lys)
n.200-4215G>A
c.667G>A (p.Glu223Lys)
c.664G>A (p.Glu222Lys)
c.399+2219G>A (n.399+2219G>A)
n.540+2219G>A
Xg.154558595G>CCA415214138IKBKGc.427G>C (p.Glu143Gln)
c.463G>C (p.Glu155Gln)
c.61G>C (p.Glu21Gln)
n.835G>C
n.838G>C
c.*455G>C (n.*455G>C)
c.460G>C (p.Glu154Gln)
n.200-4215G>C
c.667G>C (p.Glu223Gln)
c.664G>C (p.Glu222Gln)
c.399+2219G>C (n.399+2219G>C)
n.540+2219G>C
Xg.154558595G>TCA415214140IKBKGc.427G>T (p.Glu143Ter)
c.463G>T (p.Glu155Ter)
c.61G>T (p.Glu21Ter)
n.835G>T
n.838G>T
c.*455G>T (n.*455G>T)
c.460G>T (p.Glu154Ter)
n.200-4215G>T
c.667G>T (p.Glu223Ter)
c.664G>T (p.Glu222Ter)
c.399+2219G>T (n.399+2219G>T)
n.540+2219G>T
Xg.154558596A>CCA415214143IKBKGc.428A>C (p.Glu143Ala)
c.464A>C (p.Glu155Ala)
c.62A>C (p.Glu21Ala)
n.836A>C
n.839A>C
c.*456A>C (n.*456A>C)
c.461A>C (p.Glu154Ala)
n.200-4214A>C
c.668A>C (p.Glu223Ala)
c.665A>C (p.Glu222Ala)
c.399+2220A>C (n.399+2220A>C)
n.540+2220A>C
Xg.154558596A>GCA415214145IKBKGc.428A>G (p.Glu143Gly)
c.464A>G (p.Glu155Gly)
c.62A>G (p.Glu21Gly)
n.836A>G
n.839A>G
c.*456A>G (n.*456A>G)
c.461A>G (p.Glu154Gly)
n.200-4214A>G
c.668A>G (p.Glu223Gly)
c.665A>G (p.Glu222Gly)
c.399+2220A>G (n.399+2220A>G)
n.540+2220A>G
Xg.154558596A>TCA415214146IKBKGc.428A>T (p.Glu143Val)
c.464A>T (p.Glu155Val)
c.62A>T (p.Glu21Val)
n.836A>T
n.839A>T
c.*456A>T (n.*456A>T)
c.461A>T (p.Glu154Val)
n.200-4214A>T
c.668A>T (p.Glu223Val)
c.665A>T (p.Glu222Val)
c.399+2220A>T (n.399+2220A>T)
n.540+2220A>T
Xg.154558597G>ACA519284641IKBKGc.429G>A (p.Glu143=)
c.465G>A (p.Glu155=)
c.63G>A (p.Glu21=)
n.837G>A
n.840G>A
c.*457G>A (n.*457G>A)
c.462G>A (p.Glu154=)
n.200-4213G>A
c.669G>A (p.Glu223=)
c.666G>A (p.Glu222=)
c.399+2221G>A (n.399+2221G>A)
n.540+2221G>A
Xg.154558597G>CCA415214150IKBKGc.429G>C (p.Glu143Asp)
c.465G>C (p.Glu155Asp)
c.63G>C (p.Glu21Asp)
n.837G>C
n.840G>C
c.*457G>C (n.*457G>C)
c.462G>C (p.Glu154Asp)
n.200-4213G>C
c.669G>C (p.Glu223Asp)
c.666G>C (p.Glu222Asp)
c.399+2221G>C (n.399+2221G>C)
n.540+2221G>C
 dbSNP gnomAD v4
Xg.154558597G=CA2466732904IKBKGc.429G= (p.Glu143=)
c.465G= (p.Glu155=)
c.63G= (p.Glu21=)
n.837G=
n.840G=
c.*457G= (n.*457G=)
c.462G= (p.Glu154=)
n.200-4213G=
c.669G= (p.Glu223=)
c.666G= (p.Glu222=)
c.399+2221G= (n.399+2221G=)
n.540+2221G=
Xg.154558597G>TCA415214151IKBKGc.429G>T (p.Glu143Asp)
c.465G>T (p.Glu155Asp)
c.63G>T (p.Glu21Asp)
n.837G>T
n.840G>T
c.*457G>T (n.*457G>T)
c.462G>T (p.Glu154Asp)
n.200-4213G>T
c.669G>T (p.Glu223Asp)
c.666G>T (p.Glu222Asp)
c.399+2221G>T (n.399+2221G>T)
n.540+2221G>T
Xg.154558598A=CA2466732905IKBKGc.430A= (p.Ser144=)
c.466A= (p.Ser156=)
c.64A= (p.Ser22=)
n.838A=
n.841A=
c.*458A= (n.*458A=)
c.463A= (p.Ser155=)
n.200-4212A=
c.670A= (p.Ser224=)
c.667A= (p.Ser223=)
c.399+2222A= (n.399+2222A=)
n.540+2222A=
Xg.154558598A>CCA415214153IKBKGc.430A>C (p.Ser144Arg)
c.466A>C (p.Ser156Arg)
c.64A>C (p.Ser22Arg)
n.838A>C
n.841A>C
c.*458A>C (n.*458A>C)
c.463A>C (p.Ser155Arg)
n.200-4212A>C
c.670A>C (p.Ser224Arg)
c.667A>C (p.Ser223Arg)
c.399+2222A>C (n.399+2222A>C)
n.540+2222A>C
Xg.154558598A>GCA415214156IKBKGc.430A>G (p.Ser144Gly)
c.466A>G (p.Ser156Gly)
c.64A>G (p.Ser22Gly)
n.838A>G
n.841A>G
c.*458A>G (n.*458A>G)
c.463A>G (p.Ser155Gly)
n.200-4212A>G
c.670A>G (p.Ser224Gly)
c.667A>G (p.Ser223Gly)
c.399+2222A>G (n.399+2222A>G)
n.540+2222A>G
 dbSNP
Xg.154558598A>TCA415214157IKBKGc.430A>T (p.Ser144Cys)
c.466A>T (p.Ser156Cys)
c.64A>T (p.Ser22Cys)
n.838A>T
n.841A>T
c.*458A>T (n.*458A>T)
c.463A>T (p.Ser155Cys)
n.200-4212A>T
c.670A>T (p.Ser224Cys)
c.667A>T (p.Ser223Cys)
c.399+2222A>T (n.399+2222A>T)
n.540+2222A>T
Xg.154558599G>ACA415214162IKBKGc.431G>A (p.Ser144Asn)
c.467G>A (p.Ser156Asn)
c.65G>A (p.Ser22Asn)
n.839G>A
n.842G>A
c.*459G>A (n.*459G>A)
c.464G>A (p.Ser155Asn)
n.200-4211G>A
c.671G>A (p.Ser224Asn)
c.668G>A (p.Ser223Asn)
c.399+2223G>A (n.399+2223G>A)
n.540+2223G>A
Xg.154558599G>CCA415214163IKBKGc.431G>C (p.Ser144Thr)
c.467G>C (p.Ser156Thr)
c.65G>C (p.Ser22Thr)
n.839G>C
n.842G>C
c.*459G>C (n.*459G>C)
c.464G>C (p.Ser155Thr)
n.200-4211G>C
c.671G>C (p.Ser224Thr)
c.668G>C (p.Ser223Thr)
c.399+2223G>C (n.399+2223G>C)
n.540+2223G>C
Xg.154558599G>TCA415214160IKBKGc.431G>T (p.Ser144Ile)
c.467G>T (p.Ser156Ile)
c.65G>T (p.Ser22Ile)
n.839G>T
n.842G>T
c.*459G>T (n.*459G>T)
c.464G>T (p.Ser155Ile)
n.200-4211G>T
c.671G>T (p.Ser224Ile)
c.668G>T (p.Ser223Ile)
c.399+2223G>T (n.399+2223G>T)
n.540+2223G>T
 gnomAD v4
Xg.154558600C>ACA415214166IKBKGc.432C>A (p.Ser144Arg)
c.468C>A (p.Ser156Arg)
c.66C>A (p.Ser22Arg)
n.840C>A
n.843C>A
c.*460C>A (n.*460C>A)
c.465C>A (p.Ser155Arg)
n.200-4210C>A
c.672C>A (p.Ser224Arg)
c.669C>A (p.Ser223Arg)
c.399+2224C>A (n.399+2224C>A)
n.540+2224C>A
 gnomAD v4
Xg.154558600C>GCA415214168IKBKGc.432C>G (p.Ser144Arg)
c.468C>G (p.Ser156Arg)
c.66C>G (p.Ser22Arg)
n.840C>G
n.843C>G
c.*460C>G (n.*460C>G)
c.465C>G (p.Ser155Arg)
n.200-4210C>G
c.672C>G (p.Ser224Arg)
c.669C>G (p.Ser223Arg)
c.399+2224C>G (n.399+2224C>G)
n.540+2224C>G
Xg.154558600C>TCA519284648IKBKGc.432C>T (p.Ser144=)
c.468C>T (p.Ser156=)
c.66C>T (p.Ser22=)
n.840C>T
n.843C>T
c.*460C>T (n.*460C>T)
c.465C>T (p.Ser155=)
n.200-4210C>T
c.672C>T (p.Ser224=)
c.669C>T (p.Ser223=)
c.399+2224C>T (n.399+2224C>T)
n.540+2224C>T
Xg.154558601C>ACA415214170IKBKGc.433C>A (p.Gln145Lys)
c.469C>A (p.Gln157Lys)
c.67C>A (p.Gln23Lys)
n.841C>A
n.844C>A
c.*461C>A (n.*461C>A)
c.466C>A (p.Gln156Lys)
n.200-4209C>A
c.673C>A (p.Gln225Lys)
c.670C>A (p.Gln224Lys)
c.399+2225C>A (n.399+2225C>A)
n.540+2225C>A
Xg.154558601C>GCA415214172IKBKGc.433C>G (p.Gln145Glu)
c.469C>G (p.Gln157Glu)
c.67C>G (p.Gln23Glu)
n.841C>G
n.844C>G
c.*461C>G (n.*461C>G)
c.466C>G (p.Gln156Glu)
n.200-4209C>G
c.673C>G (p.Gln225Glu)
c.670C>G (p.Gln224Glu)
c.399+2225C>G (n.399+2225C>G)
n.540+2225C>G
Xg.154558601C>TCA415214174IKBKGc.433C>T (p.Gln145Ter)
c.469C>T (p.Gln157Ter)
c.67C>T (p.Gln23Ter)
n.841C>T
n.844C>T
c.*461C>T (n.*461C>T)
c.466C>T (p.Gln156Ter)
n.200-4209C>T
c.673C>T (p.Gln225Ter)
c.670C>T (p.Gln224Ter)
c.399+2225C>T (n.399+2225C>T)
n.540+2225C>T
Xg.154558602A=CA2466732906IKBKGc.434A= (p.Gln145=)
c.470A= (p.Gln157=)
c.68A= (p.Gln23=)
n.842A=
n.845A=
c.*462A= (n.*462A=)
c.467A= (p.Gln156=)
n.200-4208A=
c.674A= (p.Gln225=)
c.671A= (p.Gln224=)
c.399+2226A= (n.399+2226A=)
n.540+2226A=
Xg.154558602A>CCA214035IKBKGc.434A>C (p.Gln145Pro)
c.470A>C (p.Gln157Pro)
c.68A>C (p.Gln23Pro)
n.842A>C
n.845A>C
c.*462A>C (n.*462A>C)
c.467A>C (p.Gln156Pro)
n.200-4208A>C
c.674A>C (p.Gln225Pro)
c.671A>C (p.Gln224Pro)
c.399+2226A>C (n.399+2226A>C)
n.540+2226A>C
 ClinVar dbSNP
Xg.154558602A>GCA415214177IKBKGc.434A>G (p.Gln145Arg)
c.470A>G (p.Gln157Arg)
c.68A>G (p.Gln23Arg)
n.842A>G
n.845A>G
c.*462A>G (n.*462A>G)
c.467A>G (p.Gln156Arg)
n.200-4208A>G
c.674A>G (p.Gln225Arg)
c.671A>G (p.Gln224Arg)
c.399+2226A>G (n.399+2226A>G)
n.540+2226A>G
Xg.154558602A>TCA415214180IKBKGc.434A>T (p.Gln145Leu)
c.470A>T (p.Gln157Leu)
c.68A>T (p.Gln23Leu)
n.842A>T
n.845A>T
c.*462A>T (n.*462A>T)
c.467A>T (p.Gln156Leu)
n.200-4208A>T
c.674A>T (p.Gln225Leu)
c.671A>T (p.Gln224Leu)
c.399+2226A>T (n.399+2226A>T)
n.540+2226A>T
Xg.154558603G>ACA519284656IKBKGc.435G>A (p.Gln145=)
c.471G>A (p.Gln157=)
c.69G>A (p.Gln23=)
n.843G>A
n.846G>A
c.*463G>A (n.*463G>A)
c.468G>A (p.Gln156=)
n.200-4207G>A
c.675G>A (p.Gln225=)
c.672G>A (p.Gln224=)
c.399+2227G>A (n.399+2227G>A)
n.540+2227G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.154558603G>CCA415214182IKBKGc.435G>C (p.Gln145His)
c.471G>C (p.Gln157His)
c.69G>C (p.Gln23His)
n.843G>C
n.846G>C
c.*463G>C (n.*463G>C)
c.468G>C (p.Gln156His)
n.200-4207G>C
c.675G>C (p.Gln225His)
c.672G>C (p.Gln224His)
c.399+2227G>C (n.399+2227G>C)
n.540+2227G>C
Xg.154558603G=CA2466732907IKBKGc.435G= (p.Gln145=)
c.471G= (p.Gln157=)
c.69G= (p.Gln23=)
n.843G=
n.846G=
c.*463G= (n.*463G=)
c.468G= (p.Gln156=)
n.200-4207G=
c.675G= (p.Gln225=)
c.672G= (p.Gln224=)
c.399+2227G= (n.399+2227G=)
n.540+2227G=
Xg.154558603G>TCA415214184IKBKGc.435G>T (p.Gln145His)
c.471G>T (p.Gln157His)
c.69G>T (p.Gln23His)
n.843G>T
n.846G>T
c.*463G>T (n.*463G>T)
c.468G>T (p.Gln156His)
n.200-4207G>T
c.675G>T (p.Gln225His)
c.672G>T (p.Gln224His)
c.399+2227G>T (n.399+2227G>T)
n.540+2227G>T
Xg.154558604A>CCA415214187IKBKGc.436A>C (p.Ser146Arg)
c.472A>C (p.Ser158Arg)
c.70A>C (p.Ser24Arg)
n.844A>C
n.847A>C
c.*464A>C (n.*464A>C)
c.469A>C (p.Ser157Arg)
n.200-4206A>C
c.676A>C (p.Ser226Arg)
c.673A>C (p.Ser225Arg)
c.399+2228A>C (n.399+2228A>C)
n.540+2228A>C
Xg.154558604A>GCA415214188IKBKGc.436A>G (p.Ser146Gly)
c.472A>G (p.Ser158Gly)
c.70A>G (p.Ser24Gly)
n.844A>G
n.847A>G
c.*464A>G (n.*464A>G)
c.469A>G (p.Ser157Gly)
n.200-4206A>G
c.676A>G (p.Ser226Gly)
c.673A>G (p.Ser225Gly)
c.399+2228A>G (n.399+2228A>G)
n.540+2228A>G
 gnomAD v4
Xg.154558604A>TCA415214190IKBKGc.436A>T (p.Ser146Cys)
c.472A>T (p.Ser158Cys)
c.70A>T (p.Ser24Cys)
n.844A>T
n.847A>T
c.*464A>T (n.*464A>T)
c.469A>T (p.Ser157Cys)
n.200-4206A>T
c.676A>T (p.Ser226Cys)
c.673A>T (p.Ser225Cys)
c.399+2228A>T (n.399+2228A>T)
n.540+2228A>T
Xg.154558605G>ACA415214192IKBKGc.437G>A (p.Ser146Asn)
c.473G>A (p.Ser158Asn)
c.71G>A (p.Ser24Asn)
n.845G>A
n.848G>A
c.*465G>A (n.*465G>A)
c.470G>A (p.Ser157Asn)
n.200-4205G>A
c.677G>A (p.Ser226Asn)
c.674G>A (p.Ser225Asn)
c.399+2229G>A (n.399+2229G>A)
n.540+2229G>A
Xg.154558605G>CCA415214196IKBKGc.437G>C (p.Ser146Thr)
c.473G>C (p.Ser158Thr)
c.71G>C (p.Ser24Thr)
n.845G>C
n.848G>C
c.*465G>C (n.*465G>C)
c.470G>C (p.Ser157Thr)
n.200-4205G>C
c.677G>C (p.Ser226Thr)
c.674G>C (p.Ser225Thr)
c.399+2229G>C (n.399+2229G>C)
n.540+2229G>C
Xg.154558605G>TCA415214194IKBKGc.437G>T (p.Ser146Ile)
c.473G>T (p.Ser158Ile)
c.71G>T (p.Ser24Ile)
n.845G>T
n.848G>T
c.*465G>T (n.*465G>T)
c.470G>T (p.Ser157Ile)
n.200-4205G>T
c.677G>T (p.Ser226Ile)
c.674G>T (p.Ser225Ile)
c.399+2229G>T (n.399+2229G>T)
n.540+2229G>T
Xg.154558606T>ACA415214198IKBKGc.438T>A (p.Ser146Arg)
c.474T>A (p.Ser158Arg)
c.72T>A (p.Ser24Arg)
n.846T>A
n.849T>A
c.*466T>A (n.*466T>A)
c.471T>A (p.Ser157Arg)
n.200-4204T>A
c.678T>A (p.Ser226Arg)
c.675T>A (p.Ser225Arg)
c.399+2230T>A (n.399+2230T>A)
n.540+2230T>A
Xg.154558606T>CCA519284664IKBKGc.438T>C (p.Ser146=)
c.474T>C (p.Ser158=)
c.72T>C (p.Ser24=)
n.846T>C
n.849T>C
c.*466T>C (n.*466T>C)
c.471T>C (p.Ser157=)
n.200-4204T>C
c.678T>C (p.Ser226=)
c.675T>C (p.Ser225=)
c.399+2230T>C (n.399+2230T>C)
n.540+2230T>C
Xg.154558606T>GCA415214200IKBKGc.438T>G (p.Ser146Arg)
c.474T>G (p.Ser158Arg)
c.72T>G (p.Ser24Arg)
n.846T>G
n.849T>G
c.*466T>G (n.*466T>G)
c.471T>G (p.Ser157Arg)
n.200-4204T>G
c.678T>G (p.Ser226Arg)
c.675T>G (p.Ser225Arg)
c.399+2230T>G (n.399+2230T>G)
n.540+2230T>G
Xg.154558607C>ACA415214204IKBKGc.439C>A (p.Arg147Ser)
c.475C>A (p.Arg159Ser)
c.73C>A (p.Arg25Ser)
n.847C>A
n.850C>A
c.*467C>A (n.*467C>A)
c.472C>A (p.Arg158Ser)
n.200-4203C>A
c.679C>A (p.Arg227Ser)
c.676C>A (p.Arg226Ser)
c.399+2231C>A (n.399+2231C>A)
n.540+2231C>A
 gnomAD v4
Xg.154558607C=CA2466732908IKBKGc.439C= (p.Arg147=)
c.475C= (p.Arg159=)
c.73C= (p.Arg25=)
n.847C=
n.850C=
c.*467C= (n.*467C=)
c.472C= (p.Arg158=)
n.200-4203C=
c.679C= (p.Arg227=)
c.676C= (p.Arg226=)
c.399+2231C= (n.399+2231C=)
n.540+2231C=
Xg.154558607C>GCA415214205IKBKGc.439C>G (p.Arg147Gly)
c.475C>G (p.Arg159Gly)
c.73C>G (p.Arg25Gly)
n.847C>G
n.850C>G
c.*467C>G (n.*467C>G)
c.472C>G (p.Arg158Gly)
n.200-4203C>G
c.679C>G (p.Arg227Gly)
c.676C>G (p.Arg226Gly)
c.399+2231C>G (n.399+2231C>G)
n.540+2231C>G
Xg.154558607C>TCA415214207IKBKGc.439C>T (p.Arg147Cys)
c.475C>T (p.Arg159Cys)
c.73C>T (p.Arg25Cys)
n.847C>T
n.850C>T
c.*467C>T (n.*467C>T)
c.472C>T (p.Arg158Cys)
n.200-4203C>T
c.679C>T (p.Arg227Cys)
c.676C>T (p.Arg226Cys)
c.399+2231C>T (n.399+2231C>T)
n.540+2231C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.154558608G>ACA415214209IKBKGc.440G>A (p.Arg147His)
c.476G>A (p.Arg159His)
c.74G>A (p.Arg25His)
n.848G>A
n.851G>A
c.*468G>A (n.*468G>A)
c.473G>A (p.Arg158His)
n.200-4202G>A
c.680G>A (p.Arg227His)
c.677G>A (p.Arg226His)
c.399+2232G>A (n.399+2232G>A)
n.540+2232G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.154558608G>CCA415214210IKBKGc.440G>C (p.Arg147Pro)
c.476G>C (p.Arg159Pro)
c.74G>C (p.Arg25Pro)
n.848G>C
n.851G>C
c.*468G>C (n.*468G>C)
c.473G>C (p.Arg158Pro)
n.200-4202G>C
c.680G>C (p.Arg227Pro)
c.677G>C (p.Arg226Pro)
c.399+2232G>C (n.399+2232G>C)
n.540+2232G>C
Xg.154558608G=CA2466732909IKBKGc.440G= (p.Arg147=)
c.476G= (p.Arg159=)
c.74G= (p.Arg25=)
n.848G=
n.851G=
c.*468G= (n.*468G=)
c.473G= (p.Arg158=)
n.200-4202G=
c.680G= (p.Arg227=)
c.677G= (p.Arg226=)
c.399+2232G= (n.399+2232G=)
n.540+2232G=
Xg.154558608G>TCA415214212IKBKGc.440G>T (p.Arg147Leu)
c.476G>T (p.Arg159Leu)
c.74G>T (p.Arg25Leu)
n.848G>T
n.851G>T
c.*468G>T (n.*468G>T)
c.473G>T (p.Arg158Leu)
n.200-4202G>T
c.680G>T (p.Arg227Leu)
c.677G>T (p.Arg226Leu)
c.399+2232G>T (n.399+2232G>T)
n.540+2232G>T
 dbSNP gnomAD v3 gnomAD v4
Xg.154558609C>ACA519284670IKBKGc.441C>A (p.Arg147=)
c.477C>A (p.Arg159=)
c.75C>A (p.Arg25=)
n.849C>A
n.852C>A
c.*469C>A (n.*469C>A)
c.474C>A (p.Arg158=)
n.200-4201C>A
c.681C>A (p.Arg227=)
c.678C>A (p.Arg226=)
c.399+2233C>A (n.399+2233C>A)
n.540+2233C>A
Xg.154558609C>GCA519284672IKBKGc.441C>G (p.Arg147=)
c.477C>G (p.Arg159=)
c.75C>G (p.Arg25=)
n.849C>G
n.852C>G
c.*469C>G (n.*469C>G)
c.474C>G (p.Arg158=)
n.200-4201C>G
c.681C>G (p.Arg227=)
c.678C>G (p.Arg226=)
c.399+2233C>G (n.399+2233C>G)
n.540+2233C>G
Xg.154558609C>TCA519284673IKBKGc.441C>T (p.Arg147=)
c.477C>T (p.Arg159=)
c.75C>T (p.Arg25=)
n.849C>T
n.852C>T
c.*469C>T (n.*469C>T)
c.474C>T (p.Arg158=)
n.200-4201C>T
c.681C>T (p.Arg227=)
c.678C>T (p.Arg226=)
c.399+2233C>T (n.399+2233C>T)
n.540+2233C>T
Xg.154558610T>ACA415214214IKBKGc.442T>A (p.Leu148Met)
c.478T>A (p.Leu160Met)
c.76T>A (p.Leu26Met)
n.850T>A
n.853T>A
c.*470T>A (n.*470T>A)
c.475T>A (p.Leu159Met)
n.200-4200T>A
c.682T>A (p.Leu228Met)
c.679T>A (p.Leu227Met)
c.399+2234T>A (n.399+2234T>A)
n.540+2234T>A
Xg.154558610T>CCA519284677IKBKGc.442T>C (p.Leu148=)
c.478T>C (p.Leu160=)
c.76T>C (p.Leu26=)
n.850T>C
n.853T>C
c.*470T>C (n.*470T>C)
c.475T>C (p.Leu159=)
n.200-4200T>C
c.682T>C (p.Leu228=)
c.679T>C (p.Leu227=)
c.399+2234T>C (n.399+2234T>C)
n.540+2234T>C
 gnomAD v4
Xg.154558610T>GCA415214216IKBKGc.442T>G (p.Leu148Val)
c.478T>G (p.Leu160Val)
c.76T>G (p.Leu26Val)
n.850T>G
n.853T>G
c.*470T>G (n.*470T>G)
c.475T>G (p.Leu159Val)
n.200-4200T>G
c.682T>G (p.Leu228Val)
c.679T>G (p.Leu227Val)
c.399+2234T>G (n.399+2234T>G)
n.540+2234T>G
 gnomAD v4
Xg.154558610_154558611delCA2695153304IKBKGc.442_443del (p.Leu148GlyfsTer5)
c.478_479del (p.Leu160GlyfsTer5)
c.76_77del (p.Leu26GlyfsTer5)
n.850_851del
n.853_854del
c.*470_*471del (n.*470_*471del)
c.475_476del (p.Leu159GlyfsTer5)
n.200-4200_200-4199del
c.682_683del (p.Leu228GlyfsTer5)
c.679_680del (p.Leu227GlyfsTer5)
c.399+2234_399+2235del (n.399+2234_399+2235del)
n.540+2234_540+2235del
 gnomAD v4
Xg.154558611T>ACA415214219IKBKGc.443T>A (p.Leu148Ter)
c.479T>A (p.Leu160Ter)
c.77T>A (p.Leu26Ter)
n.851T>A
n.854T>A
c.*471T>A (n.*471T>A)
c.476T>A (p.Leu159Ter)
n.200-4199T>A
c.683T>A (p.Leu228Ter)
c.680T>A (p.Leu227Ter)
c.399+2235T>A (n.399+2235T>A)
n.540+2235T>A
Xg.154558611T>CCA415214222IKBKGc.443T>C (p.Leu148Ser)
c.479T>C (p.Leu160Ser)
c.77T>C (p.Leu26Ser)
n.851T>C
n.854T>C
c.*471T>C (n.*471T>C)
c.476T>C (p.Leu159Ser)
n.200-4199T>C
c.683T>C (p.Leu228Ser)
c.680T>C (p.Leu227Ser)
c.399+2235T>C (n.399+2235T>C)
n.540+2235T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.154558611T>GCA415214221IKBKGc.443T>G (p.Leu148Trp)
c.479T>G (p.Leu160Trp)
c.77T>G (p.Leu26Trp)
n.851T>G
n.854T>G
c.*471T>G (n.*471T>G)
c.476T>G (p.Leu159Trp)
n.200-4199T>G
c.683T>G (p.Leu228Trp)
c.680T>G (p.Leu227Trp)
c.399+2235T>G (n.399+2235T>G)
n.540+2235T>G
 gnomAD v4
Xg.154558611T=CA2466732910IKBKGc.443T= (p.Leu148=)
c.479T= (p.Leu160=)
c.77T= (p.Leu26=)
n.851T=
n.854T=
c.*471T= (n.*471T=)
c.476T= (p.Leu159=)
n.200-4199T=
c.683T= (p.Leu228=)
c.680T= (p.Leu227=)
c.399+2235T= (n.399+2235T=)
n.540+2235T=
Xg.154558612G>ACA519284681IKBKGc.444G>A (p.Leu148=)
c.480G>A (p.Leu160=)
c.78G>A (p.Leu26=)
n.852G>A
n.855G>A
c.*472G>A (n.*472G>A)
c.477G>A (p.Leu159=)
n.200-4198G>A
c.684G>A (p.Leu228=)
c.681G>A (p.Leu227=)
c.399+2236G>A (n.399+2236G>A)
n.540+2236G>A
 gnomAD v4
Xg.154558612G>CCA415214223IKBKGc.444G>C (p.Leu148Phe)
c.480G>C (p.Leu160Phe)
c.78G>C (p.Leu26Phe)
n.852G>C
n.855G>C
c.*472G>C (n.*472G>C)
c.477G>C (p.Leu159Phe)
n.200-4198G>C
c.684G>C (p.Leu228Phe)
c.681G>C (p.Leu227Phe)
c.399+2236G>C (n.399+2236G>C)
n.540+2236G>C
Xg.154558612G>TCA415214224IKBKGc.444G>T (p.Leu148Phe)
c.480G>T (p.Leu160Phe)
c.78G>T (p.Leu26Phe)
n.852G>T
n.855G>T
c.*472G>T (n.*472G>T)
c.477G>T (p.Leu159Phe)
n.200-4198G>T
c.684G>T (p.Leu228Phe)
c.681G>T (p.Leu227Phe)
c.399+2236G>T (n.399+2236G>T)
n.540+2236G>T
 gnomAD v4
Xg.154558613G>ACA415214227IKBKGc.445G>A (p.Glu149Lys)
c.481G>A (p.Glu161Lys)
c.79G>A (p.Glu27Lys)
n.853G>A
n.856G>A
c.*473G>A (n.*473G>A)
c.478G>A (p.Glu160Lys)
n.200-4197G>A
c.685G>A (p.Glu229Lys)
c.682G>A (p.Glu228Lys)
c.399+2237G>A (n.399+2237G>A)
n.540+2237G>A
 dbSNP gnomAD v4
Xg.154558613G>CCA415214229IKBKGc.445G>C (p.Glu149Gln)
c.481G>C (p.Glu161Gln)
c.79G>C (p.Glu27Gln)
n.853G>C
n.856G>C
c.*473G>C (n.*473G>C)
c.478G>C (p.Glu160Gln)
n.200-4197G>C
c.685G>C (p.Glu229Gln)
c.682G>C (p.Glu228Gln)
c.399+2237G>C (n.399+2237G>C)
n.540+2237G>C
Xg.154558613G=CA2466732911IKBKGc.445G= (p.Glu149=)
c.481G= (p.Glu161=)
c.79G= (p.Glu27=)
n.853G=
n.856G=
c.*473G= (n.*473G=)
c.478G= (p.Glu160=)
n.200-4197G=
c.685G= (p.Glu229=)
c.682G= (p.Glu228=)
c.399+2237G= (n.399+2237G=)
n.540+2237G=
Xg.154558613G>TCA415214230IKBKGc.445G>T (p.Glu149Ter)
c.481G>T (p.Glu161Ter)
c.79G>T (p.Glu27Ter)
n.853G>T
n.856G>T
c.*473G>T (n.*473G>T)
c.478G>T (p.Glu160Ter)
n.200-4197G>T
c.685G>T (p.Glu229Ter)
c.682G>T (p.Glu228Ter)
c.399+2237G>T (n.399+2237G>T)
n.540+2237G>T
 gnomAD v4
Xg.154558614A>CCA415214233IKBKGc.446A>C (p.Glu149Ala)
c.482A>C (p.Glu161Ala)
c.80A>C (p.Glu27Ala)
n.854A>C
n.857A>C
c.*474A>C (n.*474A>C)
c.479A>C (p.Glu160Ala)
n.200-4196A>C
c.686A>C (p.Glu229Ala)
c.683A>C (p.Glu228Ala)
c.399+2238A>C (n.399+2238A>C)
n.540+2238A>C
 gnomAD v4
Xg.154558614A>GCA415214235IKBKGc.446A>G (p.Glu149Gly)
c.482A>G (p.Glu161Gly)
c.80A>G (p.Glu27Gly)
n.854A>G
n.857A>G
c.*474A>G (n.*474A>G)
c.479A>G (p.Glu160Gly)
n.200-4196A>G
c.686A>G (p.Glu229Gly)
c.683A>G (p.Glu228Gly)
c.399+2238A>G (n.399+2238A>G)
n.540+2238A>G
 gnomAD v4
Xg.154558614A>TCA415214237IKBKGc.446A>T (p.Glu149Val)
c.482A>T (p.Glu161Val)
c.80A>T (p.Glu27Val)
n.854A>T
n.857A>T
c.*474A>T (n.*474A>T)
c.479A>T (p.Glu160Val)
n.200-4196A>T
c.686A>T (p.Glu229Val)
c.683A>T (p.Glu228Val)
c.399+2238A>T (n.399+2238A>T)
n.540+2238A>T
 gnomAD v4
Xg.154558615G>ACA519284689IKBKGc.447G>A (p.Glu149=)
c.483G>A (p.Glu161=)
c.81G>A (p.Glu27=)
n.855G>A
n.858G>A
c.*475G>A (n.*475G>A)
c.480G>A (p.Glu160=)
n.200-4195G>A
c.687G>A (p.Glu229=)
c.684G>A (p.Glu228=)
c.399+2239G>A (n.399+2239G>A)
n.540+2239G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.154558615G>CCA415214239IKBKGc.447G>C (p.Glu149Asp)
c.483G>C (p.Glu161Asp)
c.81G>C (p.Glu27Asp)
n.855G>C
n.858G>C
c.*475G>C (n.*475G>C)
c.480G>C (p.Glu160Asp)
n.200-4195G>C
c.687G>C (p.Glu229Asp)
c.684G>C (p.Glu228Asp)
c.399+2239G>C (n.399+2239G>C)
n.540+2239G>C
Xg.154558615G=CA2466732912IKBKGc.447G= (p.Glu149=)
c.483G= (p.Glu161=)
c.81G= (p.Glu27=)
n.855G=
n.858G=
c.*475G= (n.*475G=)
c.480G= (p.Glu160=)
n.200-4195G=
c.687G= (p.Glu229=)
c.684G= (p.Glu228=)
c.399+2239G= (n.399+2239G=)
n.540+2239G=
Xg.154558615G>TCA415214241IKBKGc.447G>T (p.Glu149Asp)
c.483G>T (p.Glu161Asp)
c.81G>T (p.Glu27Asp)
n.855G>T
n.858G>T
c.*475G>T (n.*475G>T)
c.480G>T (p.Glu160Asp)
n.200-4195G>T
c.687G>T (p.Glu229Asp)
c.684G>T (p.Glu228Asp)
c.399+2239G>T (n.399+2239G>T)
n.540+2239G>T
 gnomAD v4
Xg.154558616delCA2695237073IKBKGc.448del (p.Ala150LeufsTer?)
c.484del (p.Ala162LeufsTer?)
c.82del (p.Ala28LeufsTer?)
n.856del
n.859del
c.*476del (n.*476del)
c.481del (p.Ala161LeufsTer?)
n.200-4194del
c.688del (p.Ala230LeufsTer?)
c.685del (p.Ala229LeufsTer?)
c.399+2240del (n.399+2240del)
n.540+2240del
Xg.154558616G>ACA415214244IKBKGc.448G>A (p.Ala150Thr)
c.484G>A (p.Ala162Thr)
c.82G>A (p.Ala28Thr)
n.856G>A
n.859G>A
c.*476G>A (n.*476G>A)
c.481G>A (p.Ala161Thr)
n.200-4194G>A
c.688G>A (p.Ala230Thr)
c.685G>A (p.Ala229Thr)
c.399+2240G>A (n.399+2240G>A)
n.540+2240G>A
 gnomAD v4
Xg.154558616G>CCA415214245IKBKGc.448G>C (p.Ala150Pro)
c.484G>C (p.Ala162Pro)
c.82G>C (p.Ala28Pro)
n.856G>C
n.859G>C
c.*476G>C (n.*476G>C)
c.481G>C (p.Ala161Pro)
n.200-4194G>C
c.688G>C (p.Ala230Pro)
c.685G>C (p.Ala229Pro)
c.399+2240G>C (n.399+2240G>C)
n.540+2240G>C
 gnomAD v4
Xg.154558616G>TCA415214247IKBKGc.448G>T (p.Ala150Ser)
c.484G>T (p.Ala162Ser)
c.82G>T (p.Ala28Ser)
n.856G>T
n.859G>T
c.*476G>T (n.*476G>T)
c.481G>T (p.Ala161Ser)
n.200-4194G>T
c.688G>T (p.Ala230Ser)
c.685G>T (p.Ala229Ser)
c.399+2240G>T (n.399+2240G>T)
n.540+2240G>T
 gnomAD v4
Xg.154558617C>ACA415214254IKBKGc.449C>A (p.Ala150Asp)
c.485C>A (p.Ala162Asp)
c.83C>A (p.Ala28Asp)
n.857C>A
n.860C>A
c.*477C>A (n.*477C>A)
c.482C>A (p.Ala161Asp)
n.200-4193C>A
c.689C>A (p.Ala230Asp)
c.686C>A (p.Ala229Asp)
c.399+2241C>A (n.399+2241C>A)
n.540+2241C>A
 gnomAD v4
Xg.154558617C>GCA415214250IKBKGc.449C>G (p.Ala150Gly)
c.485C>G (p.Ala162Gly)
c.83C>G (p.Ala28Gly)
n.857C>G
n.860C>G
c.*477C>G (n.*477C>G)
c.482C>G (p.Ala161Gly)
n.200-4193C>G
c.689C>G (p.Ala230Gly)
c.686C>G (p.Ala229Gly)
c.399+2241C>G (n.399+2241C>G)
n.540+2241C>G
 gnomAD v4
Xg.154558617C>TCA415214252IKBKGc.449C>T (p.Ala150Val)
c.485C>T (p.Ala162Val)
c.83C>T (p.Ala28Val)
n.857C>T
n.860C>T
c.*477C>T (n.*477C>T)
c.482C>T (p.Ala161Val)
n.200-4193C>T
c.689C>T (p.Ala230Val)
c.686C>T (p.Ala229Val)
c.399+2241C>T (n.399+2241C>T)
n.540+2241C>T
 gnomAD v4
Xg.154558619_154558624delCA2573055175IKBKGc.451_456del (p.Ala151_Thr152del)
c.487_492del (p.Ala163_Thr164del)
c.85_90del (p.Ala29_Thr30del)
n.859_864del
n.862_867del
c.*479_*484del (n.*479_*484del)
c.484_489del (p.Ala162_Thr163del)
n.200-4191_200-4186del
c.691_696del (p.Ala231_Thr232del)
c.688_693del (p.Ala230_Thr231del)
c.399+2243_399+2248del (n.399+2243_399+2248del)
n.540+2243_540+2248del
 ClinVar dbSNP
Xg.154558618T>ACA519284695IKBKGc.450T>A (p.Ala150=)
c.486T>A (p.Ala162=)
c.84T>A (p.Ala28=)
n.858T>A
n.861T>A
c.*478T>A (n.*478T>A)
c.483T>A (p.Ala161=)
n.200-4192T>A
c.690T>A (p.Ala230=)
c.687T>A (p.Ala229=)
c.399+2242T>A (n.399+2242T>A)
n.540+2242T>A
 gnomAD v4
Xg.154558618T>CCA519284699IKBKGc.450T>C (p.Ala150=)
c.486T>C (p.Ala162=)
c.84T>C (p.Ala28=)
n.858T>C
n.861T>C
c.*478T>C (n.*478T>C)
c.483T>C (p.Ala161=)
n.200-4192T>C
c.690T>C (p.Ala230=)
c.687T>C (p.Ala229=)
c.399+2242T>C (n.399+2242T>C)
n.540+2242T>C
 gnomAD v4
Xg.154558618T>GCA519284697IKBKGc.450T>G (p.Ala150=)
c.486T>G (p.Ala162=)
c.84T>G (p.Ala28=)
n.858T>G
n.861T>G
c.*478T>G (n.*478T>G)
c.483T>G (p.Ala161=)
n.200-4192T>G
c.690T>G (p.Ala230=)
c.687T>G (p.Ala229=)
c.399+2242T>G (n.399+2242T>G)
n.540+2242T>G
 gnomAD v4
Xg.154558619G>ACA415214257IKBKGc.451G>A (p.Ala151Thr)
c.487G>A (p.Ala163Thr)
c.85G>A (p.Ala29Thr)
n.859G>A
n.862G>A
c.*479G>A (n.*479G>A)
c.484G>A (p.Ala162Thr)
n.200-4191G>A
c.691G>A (p.Ala231Thr)
c.688G>A (p.Ala230Thr)
c.399+2243G>A (n.399+2243G>A)
n.540+2243G>A
 gnomAD v4
Xg.154558619G>CCA415214259IKBKGc.451G>C (p.Ala151Pro)
c.487G>C (p.Ala163Pro)
c.85G>C (p.Ala29Pro)
n.859G>C
n.862G>C
c.*479G>C (n.*479G>C)
c.484G>C (p.Ala162Pro)
n.200-4191G>C
c.691G>C (p.Ala231Pro)
c.688G>C (p.Ala230Pro)
c.399+2243G>C (n.399+2243G>C)
n.540+2243G>C
Xg.154558619G>TCA415214261IKBKGc.451G>T (p.Ala151Ser)
c.487G>T (p.Ala163Ser)
c.85G>T (p.Ala29Ser)
n.859G>T
n.862G>T
c.*479G>T (n.*479G>T)
c.484G>T (p.Ala162Ser)
n.200-4191G>T
c.691G>T (p.Ala231Ser)
c.688G>T (p.Ala230Ser)
c.399+2243G>T (n.399+2243G>T)
n.540+2243G>T
 gnomAD v4
Xg.154558620C>ACA415214263IKBKGc.452C>A (p.Ala151Asp)
c.488C>A (p.Ala163Asp)
c.86C>A (p.Ala29Asp)
n.860C>A
n.863C>A
c.*480C>A (n.*480C>A)
c.485C>A (p.Ala162Asp)
n.200-4190C>A
c.692C>A (p.Ala231Asp)
c.689C>A (p.Ala230Asp)
c.399+2244C>A (n.399+2244C>A)
n.540+2244C>A
 gnomAD v4
Xg.154558620C>GCA415214265IKBKGc.452C>G (p.Ala151Gly)
c.488C>G (p.Ala163Gly)
c.86C>G (p.Ala29Gly)
n.860C>G
n.863C>G
c.*480C>G (n.*480C>G)
c.485C>G (p.Ala162Gly)
n.200-4190C>G
c.692C>G (p.Ala231Gly)
c.689C>G (p.Ala230Gly)
c.399+2244C>G (n.399+2244C>G)
n.540+2244C>G
Xg.154558620C>TCA415214267IKBKGc.452C>T (p.Ala151Val)
c.488C>T (p.Ala163Val)
c.86C>T (p.Ala29Val)
n.860C>T
n.863C>T
c.*480C>T (n.*480C>T)
c.485C>T (p.Ala162Val)
n.200-4190C>T
c.692C>T (p.Ala231Val)
c.689C>T (p.Ala230Val)
c.399+2244C>T (n.399+2244C>T)
n.540+2244C>T
 gnomAD v4
Xg.154558621delCA2695153305IKBKGc.453del (p.Thr152LeufsTer?)
c.489del (p.Thr164LeufsTer?)
c.87del (p.Thr30LeufsTer?)
n.861del
n.864del
c.*481del (n.*481del)
c.486del (p.Thr163LeufsTer?)
n.200-4189del
c.693del (p.Thr232LeufsTer?)
c.690del (p.Thr231LeufsTer?)
c.399+2245del (n.399+2245del)
n.540+2245del
 gnomAD v4
Xg.154558621C>ACA519284704IKBKGc.453C>A (p.Ala151=)
c.489C>A (p.Ala163=)
c.87C>A (p.Ala29=)
n.861C>A
n.864C>A
c.*481C>A (n.*481C>A)
c.486C>A (p.Ala162=)
n.200-4189C>A
c.693C>A (p.Ala231=)
c.690C>A (p.Ala230=)
c.399+2245C>A (n.399+2245C>A)
n.540+2245C>A
 gnomAD v4
Xg.154558621C>GCA519284705IKBKGc.453C>G (p.Ala151=)
c.489C>G (p.Ala163=)
c.87C>G (p.Ala29=)
n.861C>G
n.864C>G
c.*481C>G (n.*481C>G)
c.486C>G (p.Ala162=)
n.200-4189C>G
c.693C>G (p.Ala231=)
c.690C>G (p.Ala230=)
c.399+2245C>G (n.399+2245C>G)
n.540+2245C>G
Xg.154558621C>TCA519284707IKBKGc.453C>T (p.Ala151=)
c.489C>T (p.Ala163=)
c.87C>T (p.Ala29=)
n.861C>T
n.864C>T
c.*481C>T (n.*481C>T)
c.486C>T (p.Ala162=)
n.200-4189C>T
c.693C>T (p.Ala231=)
c.690C>T (p.Ala230=)
c.399+2245C>T (n.399+2245C>T)
n.540+2245C>T
 gnomAD v4
Xg.154558622A>CCA415214269IKBKGc.454A>C (p.Thr152Pro)
c.490A>C (p.Thr164Pro)
c.88A>C (p.Thr30Pro)
n.862A>C
n.865A>C
c.*482A>C (n.*482A>C)
c.487A>C (p.Thr163Pro)
n.200-4188A>C
c.694A>C (p.Thr232Pro)
c.691A>C (p.Thr231Pro)
c.399+2246A>C (n.399+2246A>C)
n.540+2246A>C
 gnomAD v4
Xg.154558622A>GCA415214271IKBKGc.454A>G (p.Thr152Ala)
c.490A>G (p.Thr164Ala)
c.88A>G (p.Thr30Ala)
n.862A>G
n.865A>G
c.*482A>G (n.*482A>G)
c.487A>G (p.Thr163Ala)
n.200-4188A>G
c.694A>G (p.Thr232Ala)
c.691A>G (p.Thr231Ala)
c.399+2246A>G (n.399+2246A>G)
n.540+2246A>G
 gnomAD v4
Xg.154558622A>TCA415214273IKBKGc.454A>T (p.Thr152Ser)
c.490A>T (p.Thr164Ser)
c.88A>T (p.Thr30Ser)
n.862A>T
n.865A>T
c.*482A>T (n.*482A>T)
c.487A>T (p.Thr163Ser)
n.200-4188A>T
c.694A>T (p.Thr232Ser)
c.691A>T (p.Thr231Ser)
c.399+2246A>T (n.399+2246A>T)
n.540+2246A>T
 gnomAD v4
Xg.154558623C>ACA415214276IKBKGc.455C>A (p.Thr152Asn)
c.491C>A (p.Thr164Asn)
c.89C>A (p.Thr30Asn)
n.863C>A
n.866C>A
c.*483C>A (n.*483C>A)
c.488C>A (p.Thr163Asn)
n.200-4187C>A
c.695C>A (p.Thr232Asn)
c.692C>A (p.Thr231Asn)
c.399+2247C>A (n.399+2247C>A)
n.540+2247C>A
 gnomAD v4
Xg.154558623C=CA2466732913IKBKGc.455C= (p.Thr152=)
c.491C= (p.Thr164=)
c.89C= (p.Thr30=)
n.863C=
n.866C=
c.*483C= (n.*483C=)
c.488C= (p.Thr163=)
n.200-4187C=
c.695C= (p.Thr232=)
c.692C= (p.Thr231=)
c.399+2247C= (n.399+2247C=)
n.540+2247C=
Xg.154558623C>GCA415214278IKBKGc.455C>G (p.Thr152Ser)
c.491C>G (p.Thr164Ser)
c.89C>G (p.Thr30Ser)
n.863C>G
n.866C>G
c.*483C>G (n.*483C>G)
c.488C>G (p.Thr163Ser)
n.200-4187C>G
c.695C>G (p.Thr232Ser)
c.692C>G (p.Thr231Ser)
c.399+2247C>G (n.399+2247C>G)
n.540+2247C>G
 dbSNP gnomAD v4
Xg.154558623C>TCA415214279IKBKGc.455C>T (p.Thr152Ile)
c.491C>T (p.Thr164Ile)
c.89C>T (p.Thr30Ile)
n.863C>T
n.866C>T
c.*483C>T (n.*483C>T)
c.488C>T (p.Thr163Ile)
n.200-4187C>T
c.695C>T (p.Thr232Ile)
c.692C>T (p.Thr231Ile)
c.399+2247C>T (n.399+2247C>T)
n.540+2247C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.154558624T>ACA519284713IKBKGc.456T>A (p.Thr152=)
c.492T>A (p.Thr164=)
c.90T>A (p.Thr30=)
n.864T>A
n.867T>A
c.*484T>A (n.*484T>A)
c.489T>A (p.Thr163=)
n.200-4186T>A
c.696T>A (p.Thr232=)
c.693T>A (p.Thr231=)
c.399+2248T>A (n.399+2248T>A)
n.540+2248T>A
 gnomAD v4
Xg.154558624T>CCA519284715IKBKGc.456T>C (p.Thr152=)
c.492T>C (p.Thr164=)
c.90T>C (p.Thr30=)
n.864T>C
n.867T>C
c.*484T>C (n.*484T>C)
c.489T>C (p.Thr163=)
n.200-4186T>C
c.696T>C (p.Thr232=)
c.693T>C (p.Thr231=)
c.399+2248T>C (n.399+2248T>C)
n.540+2248T>C
 gnomAD v4
Xg.154558624T>GCA519284717IKBKGc.456T>G (p.Thr152=)
c.492T>G (p.Thr164=)
c.90T>G (p.Thr30=)
n.864T>G
n.867T>G
c.*484T>G (n.*484T>G)
c.489T>G (p.Thr163=)
n.200-4186T>G
c.696T>G (p.Thr232=)
c.693T>G (p.Thr231=)
c.399+2248T>G (n.399+2248T>G)
n.540+2248T>G
 gnomAD v4
Xg.154558625A>CCA415214282IKBKGc.457A>C (p.Lys153Gln)
c.493A>C (p.Lys165Gln)
c.91A>C (p.Lys31Gln)
n.865A>C
n.868A>C
c.*485A>C (n.*485A>C)
c.490A>C (p.Lys164Gln)
n.200-4185A>C
c.697A>C (p.Lys233Gln)
c.694A>C (p.Lys232Gln)
c.399+2249A>C (n.399+2249A>C)
n.540+2249A>C
Xg.154558625A>GCA415214285IKBKGc.457A>G (p.Lys153Glu)
c.493A>G (p.Lys165Glu)
c.91A>G (p.Lys31Glu)
n.865A>G
n.868A>G
c.*485A>G (n.*485A>G)
c.490A>G (p.Lys164Glu)
n.200-4185A>G
c.697A>G (p.Lys233Glu)
c.694A>G (p.Lys232Glu)
c.399+2249A>G (n.399+2249A>G)
n.540+2249A>G
 gnomAD v4
Xg.154558625A>TCA415214284IKBKGc.457A>T (p.Lys153Ter)
c.493A>T (p.Lys165Ter)
c.91A>T (p.Lys31Ter)
n.865A>T
n.868A>T
c.*485A>T (n.*485A>T)
c.490A>T (p.Lys164Ter)
n.200-4185A>T
c.697A>T (p.Lys233Ter)
c.694A>T (p.Lys232Ter)
c.399+2249A>T (n.399+2249A>T)
n.540+2249A>T
 gnomAD v4
Xg.154558626delCA2579742502IKBKGc.458del (p.Lys153ArgfsTer?)
c.494del (p.Lys165ArgfsTer?)
c.92del (p.Lys31ArgfsTer?)
n.866del
n.869del
c.*486del (n.*486del)
c.491del (p.Lys164ArgfsTer?)
n.200-4184del
c.698del (p.Lys233ArgfsTer?)
c.695del (p.Lys232ArgfsTer?)
c.399+2250del (n.399+2250del)
n.540+2250del
 gnomAD v4
Xg.154558626A>CCA415214289IKBKGc.458A>C (p.Lys153Thr)
c.494A>C (p.Lys165Thr)
c.92A>C (p.Lys31Thr)
n.866A>C
n.869A>C
c.*486A>C (n.*486A>C)
c.491A>C (p.Lys164Thr)
n.200-4184A>C
c.698A>C (p.Lys233Thr)
c.695A>C (p.Lys232Thr)
c.399+2250A>C (n.399+2250A>C)
n.540+2250A>C
Xg.154558626A>GCA415214290IKBKGc.458A>G (p.Lys153Arg)
c.494A>G (p.Lys165Arg)
c.92A>G (p.Lys31Arg)
n.866A>G
n.869A>G
c.*486A>G (n.*486A>G)
c.491A>G (p.Lys164Arg)
n.200-4184A>G
c.698A>G (p.Lys233Arg)
c.695A>G (p.Lys232Arg)
c.399+2250A>G (n.399+2250A>G)
n.540+2250A>G
 gnomAD v4
Xg.154558626A>TCA415214292IKBKGc.458A>T (p.Lys153Met)
c.494A>T (p.Lys165Met)
c.92A>T (p.Lys31Met)
n.866A>T
n.869A>T
c.*486A>T (n.*486A>T)
c.491A>T (p.Lys164Met)
n.200-4184A>T
c.698A>T (p.Lys233Met)
c.695A>T (p.Lys232Met)
c.399+2250A>T (n.399+2250A>T)
n.540+2250A>T
Xg.154558627G>ACA519284722IKBKGc.459G>A (p.Lys153=)
c.495G>A (p.Lys165=)
c.93G>A (p.Lys31=)
n.867G>A
n.870G>A
c.*487G>A (n.*487G>A)
c.492G>A (p.Lys164=)
n.200-4183G>A
c.699G>A (p.Lys233=)
c.696G>A (p.Lys232=)
c.399+2251G>A (n.399+2251G>A)
n.540+2251G>A
 dbSNP gnomAD v4
Xg.154558627G>CCA415214294IKBKGc.459G>C (p.Lys153Asn)
c.495G>C (p.Lys165Asn)
c.93G>C (p.Lys31Asn)
n.867G>C
n.870G>C
c.*487G>C (n.*487G>C)
c.492G>C (p.Lys164Asn)
n.200-4183G>C
c.699G>C (p.Lys233Asn)
c.696G>C (p.Lys232Asn)
c.399+2251G>C (n.399+2251G>C)
n.540+2251G>C
Xg.154558627G=CA2466732914IKBKGc.459G= (p.Lys153=)
c.495G= (p.Lys165=)
c.93G= (p.Lys31=)
n.867G=
n.870G=
c.*487G= (n.*487G=)
c.492G= (p.Lys164=)
n.200-4183G=
c.699G= (p.Lys233=)
c.696G= (p.Lys232=)
c.399+2251G= (n.399+2251G=)
n.540+2251G=
Xg.154558627G>TCA415214296IKBKGc.459G>T (p.Lys153Asn)
c.495G>T (p.Lys165Asn)
c.93G>T (p.Lys31Asn)
n.867G>T
n.870G>T
c.*487G>T (n.*487G>T)
c.492G>T (p.Lys164Asn)
n.200-4183G>T
c.699G>T (p.Lys233Asn)
c.696G>T (p.Lys232Asn)
c.399+2251G>T (n.399+2251G>T)
n.540+2251G>T
 gnomAD v4
Xg.154558628G>ACA415214298IKBKGc.460G>A (p.Glu154Lys)
c.496G>A (p.Glu166Lys)
c.94G>A (p.Glu32Lys)
n.868G>A
n.871G>A
c.*488G>A (n.*488G>A)
c.493G>A (p.Glu165Lys)
n.200-4182G>A
c.700G>A (p.Glu234Lys)
c.697G>A (p.Glu233Lys)
c.399+2252G>A (n.399+2252G>A)
n.540+2252G>A
 gnomAD v4
Xg.154558628G>CCA415214300IKBKGc.460G>C (p.Glu154Gln)
c.496G>C (p.Glu166Gln)
c.94G>C (p.Glu32Gln)
n.868G>C
n.871G>C
c.*488G>C (n.*488G>C)
c.493G>C (p.Glu165Gln)
n.200-4182G>C
c.700G>C (p.Glu234Gln)
c.697G>C (p.Glu233Gln)
c.399+2252G>C (n.399+2252G>C)
n.540+2252G>C
 gnomAD v4
Xg.154558628G>TCA415214301IKBKGc.460G>T (p.Glu154Ter)
c.496G>T (p.Glu166Ter)
c.94G>T (p.Glu32Ter)
n.868G>T
n.871G>T
c.*488G>T (n.*488G>T)
c.493G>T (p.Glu165Ter)
n.200-4182G>T
c.700G>T (p.Glu234Ter)
c.697G>T (p.Glu233Ter)
c.399+2252G>T (n.399+2252G>T)
n.540+2252G>T
 gnomAD v4
Xg.154558629A=CA2466732915IKBKGc.461A= (p.Glu154=)
c.497A= (p.Glu166=)
c.95A= (p.Glu32=)
n.869A=
n.872A=
c.*489A= (n.*489A=)
c.494A= (p.Glu165=)
n.200-4181A=
c.701A= (p.Glu234=)
c.698A= (p.Glu233=)
c.399+2253A= (n.399+2253A=)
n.540+2253A=
Xg.154558629A>CCA415214303IKBKGc.461A>C (p.Glu154Ala)
c.497A>C (p.Glu166Ala)
c.95A>C (p.Glu32Ala)
n.869A>C
n.872A>C
c.*489A>C (n.*489A>C)
c.494A>C (p.Glu165Ala)
n.200-4181A>C
c.701A>C (p.Glu234Ala)
c.698A>C (p.Glu233Ala)
c.399+2253A>C (n.399+2253A>C)
n.540+2253A>C
Xg.154558629A>GCA415214304IKBKGc.461A>G (p.Glu154Gly)
c.497A>G (p.Glu166Gly)
c.95A>G (p.Glu32Gly)
n.869A>G
n.872A>G
c.*489A>G (n.*489A>G)
c.494A>G (p.Glu165Gly)
n.200-4181A>G
c.701A>G (p.Glu234Gly)
c.698A>G (p.Glu233Gly)
c.399+2253A>G (n.399+2253A>G)
n.540+2253A>G
 gnomAD v4
Xg.154558629A>TCA415214306IKBKGc.461A>T (p.Glu154Val)
c.497A>T (p.Glu166Val)
c.95A>T (p.Glu32Val)
n.869A>T
n.872A>T
c.*489A>T (n.*489A>T)
c.494A>T (p.Glu165Val)
n.200-4181A>T
c.701A>T (p.Glu234Val)
c.698A>T (p.Glu233Val)
c.399+2253A>T (n.399+2253A>T)
n.540+2253A>T
 ClinVar dbSNP gnomAD v4
Xg.154558630A>CCA415214310IKBKGc.462A>C (p.Glu154Asp)
c.498A>C (p.Glu166Asp)
c.96A>C (p.Glu32Asp)
n.870A>C
n.873A>C
c.*490A>C (n.*490A>C)
c.495A>C (p.Glu165Asp)
n.200-4180A>C
c.702A>C (p.Glu234Asp)
c.699A>C (p.Glu233Asp)
c.399+2254A>C (n.399+2254A>C)
n.540+2254A>C
Xg.154558630A>GCA519284731IKBKGc.462A>G (p.Glu154=)
c.498A>G (p.Glu166=)
c.96A>G (p.Glu32=)
n.870A>G
n.873A>G
c.*490A>G (n.*490A>G)
c.495A>G (p.Glu165=)
n.200-4180A>G
c.702A>G (p.Glu234=)
c.699A>G (p.Glu233=)
c.399+2254A>G (n.399+2254A>G)
n.540+2254A>G
 gnomAD v4
Xg.154558630A>TCA415214308IKBKGc.462A>T (p.Glu154Asp)
c.498A>T (p.Glu166Asp)
c.96A>T (p.Glu32Asp)
n.870A>T
n.873A>T
c.*490A>T (n.*490A>T)
c.495A>T (p.Glu165Asp)
n.200-4180A>T
c.702A>T (p.Glu234Asp)
c.699A>T (p.Glu233Asp)
c.399+2254A>T (n.399+2254A>T)
n.540+2254A>T
Xg.154558631T>ACA415214312IKBKGc.463T>A (p.Cys155Ser)
c.499T>A (p.Cys167Ser)
c.97T>A (p.Cys33Ser)
n.871T>A
n.874T>A
c.*491T>A (n.*491T>A)
c.496T>A (p.Cys166Ser)
n.200-4179T>A
c.703T>A (p.Cys235Ser)
c.700T>A (p.Cys234Ser)
c.399+2255T>A (n.399+2255T>A)
n.540+2255T>A
 gnomAD v4
Xg.154558631T>CCA415214314IKBKGc.463T>C (p.Cys155Arg)
c.499T>C (p.Cys167Arg)
c.97T>C (p.Cys33Arg)
n.871T>C
n.874T>C
c.*491T>C (n.*491T>C)
c.496T>C (p.Cys166Arg)
n.200-4179T>C
c.703T>C (p.Cys235Arg)
c.700T>C (p.Cys234Arg)
c.399+2255T>C (n.399+2255T>C)
n.540+2255T>C
 gnomAD v4
Xg.154558631T>GCA415214315IKBKGc.463T>G (p.Cys155Gly)
c.499T>G (p.Cys167Gly)
c.97T>G (p.Cys33Gly)
n.871T>G
n.874T>G
c.*491T>G (n.*491T>G)
c.496T>G (p.Cys166Gly)
n.200-4179T>G
c.703T>G (p.Cys235Gly)
c.700T>G (p.Cys234Gly)
c.399+2255T>G (n.399+2255T>G)
n.540+2255T>G
Xg.154558632G>ACA415214318IKBKGc.464G>A (p.Cys155Tyr)
c.500G>A (p.Cys167Tyr)
c.98G>A (p.Cys33Tyr)
n.872G>A
n.875G>A
c.*492G>A (n.*492G>A)
c.497G>A (p.Cys166Tyr)
n.200-4178G>A
c.704G>A (p.Cys235Tyr)
c.701G>A (p.Cys234Tyr)
c.399+2256G>A (n.399+2256G>A)
n.540+2256G>A
 gnomAD v4
Xg.154558632G>CCA415214319IKBKGc.464G>C (p.Cys155Ser)
c.500G>C (p.Cys167Ser)
c.98G>C (p.Cys33Ser)
n.872G>C
n.875G>C
c.*492G>C (n.*492G>C)
c.497G>C (p.Cys166Ser)
n.200-4178G>C
c.704G>C (p.Cys235Ser)
c.701G>C (p.Cys234Ser)
c.399+2256G>C (n.399+2256G>C)
n.540+2256G>C
Xg.154558632G>TCA415214321IKBKGc.464G>T (p.Cys155Phe)
c.500G>T (p.Cys167Phe)
c.98G>T (p.Cys33Phe)
n.872G>T
n.875G>T
c.*492G>T (n.*492G>T)
c.497G>T (p.Cys166Phe)
n.200-4178G>T
c.704G>T (p.Cys235Phe)
c.701G>T (p.Cys234Phe)
c.399+2256G>T (n.399+2256G>T)
n.540+2256G>T
 gnomAD v4
Xg.154558633C>ACA415214322IKBKGc.465C>A (p.Cys155Ter)
c.501C>A (p.Cys167Ter)
c.99C>A (p.Cys33Ter)
n.873C>A
n.876C>A
c.*493C>A (n.*493C>A)
c.498C>A (p.Cys166Ter)
n.200-4177C>A
c.705C>A (p.Cys235Ter)
c.702C>A (p.Cys234Ter)
c.399+2257C>A (n.399+2257C>A)
n.540+2257C>A
 gnomAD v4
Xg.154558633C=CA2466732916IKBKGc.465C= (p.Cys155=)
c.501C= (p.Cys167=)
c.99C= (p.Cys33=)
n.873C=
n.876C=
c.*493C= (n.*493C=)
c.498C= (p.Cys166=)
n.200-4177C=
c.705C= (p.Cys235=)
c.702C= (p.Cys234=)
c.399+2257C= (n.399+2257C=)
n.540+2257C=
Xg.154558633C>GCA415214324IKBKGc.465C>G (p.Cys155Trp)
c.501C>G (p.Cys167Trp)
c.99C>G (p.Cys33Trp)
n.873C>G
n.876C>G
c.*493C>G (n.*493C>G)
c.498C>G (p.Cys166Trp)
n.200-4177C>G
c.705C>G (p.Cys235Trp)
c.702C>G (p.Cys234Trp)
c.399+2257C>G (n.399+2257C>G)
n.540+2257C>G
Xg.154558633C>TCA519284738IKBKGc.465C>T (p.Cys155=)
c.501C>T (p.Cys167=)
c.99C>T (p.Cys33=)
n.873C>T
n.876C>T
c.*493C>T (n.*493C>T)
c.498C>T (p.Cys166=)
n.200-4177C>T
c.705C>T (p.Cys235=)
c.702C>T (p.Cys234=)
c.399+2257C>T (n.399+2257C>T)
n.540+2257C>T
 dbSNP gnomAD v4
Xg.154558634delCA2695153306IKBKGc.466del (p.Gln156ArgfsTer?)
c.502del (p.Gln168ArgfsTer?)
c.100del (p.Gln34ArgfsTer?)
n.874del
n.877del
c.*494del (n.*494del)
c.499del (p.Gln167ArgfsTer?)
n.200-4176del
c.706del (p.Gln236ArgfsTer?)
c.703del (p.Gln235ArgfsTer?)
c.399+2258del (n.399+2258del)
n.540+2258del
 gnomAD v4
Xg.154558634C>ACA415214327IKBKGc.466C>A (p.Gln156Lys)
c.502C>A (p.Gln168Lys)
c.100C>A (p.Gln34Lys)
n.874C>A
n.877C>A
c.*494C>A (n.*494C>A)
c.499C>A (p.Gln167Lys)
n.200-4176C>A
c.706C>A (p.Gln236Lys)
c.703C>A (p.Gln235Lys)
c.399+2258C>A (n.399+2258C>A)
n.540+2258C>A
 gnomAD v4
Xg.154558634C=CA2466732917IKBKGc.466C= (p.Gln156=)
c.502C= (p.Gln168=)
c.100C= (p.Gln34=)
n.874C=
n.877C=
c.*494C= (n.*494C=)
c.499C= (p.Gln167=)
n.200-4176C=
c.706C= (p.Gln236=)
c.703C= (p.Gln235=)
c.399+2258C= (n.399+2258C=)
n.540+2258C=
Xg.154558634C>GCA415214329IKBKGc.466C>G (p.Gln156Glu)
c.502C>G (p.Gln168Glu)
c.100C>G (p.Gln34Glu)
n.874C>G
n.877C>G
c.*494C>G (n.*494C>G)
c.499C>G (p.Gln167Glu)
n.200-4176C>G
c.706C>G (p.Gln236Glu)
c.703C>G (p.Gln235Glu)
c.399+2258C>G (n.399+2258C>G)
n.540+2258C>G
Xg.154558634C>TCA16608843IKBKGc.466C>T (p.Gln156Ter)
c.502C>T (p.Gln168Ter)
c.100C>T (p.Gln34Ter)
n.874C>T
n.877C>T
c.*494C>T (n.*494C>T)
c.499C>T (p.Gln167Ter)
n.200-4176C>T
c.706C>T (p.Gln236Ter)
c.703C>T (p.Gln235Ter)
c.399+2258C>T (n.399+2258C>T)
n.540+2258C>T
 ClinVar dbSNP gnomAD v4

Number of alleles fetched