UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.154563490G>A | CA2739244998 | IKBKG | c.877-69G>A (n.877-69G>A) c.913-69G>A (n.913-69G>A) c.511-69G>A (n.511-69G>A) c.*294-69G>A (n.*294-69G>A) n.2310-69G>A c.760-69G>A (n.760-69G>A) c.970-69G>A (n.970-69G>A) n.2313-69G>A c.616-69G>A (n.616-69G>A) c.*905-69G>A (n.*905-69G>A) c.889-69G>A (n.889-69G>A) c.910-69G>A (n.910-69G>A) c.1117-69G>A (n.1117-69G>A) c.892-69G>A (n.892-69G>A) c.1114-69G>A (n.1114-69G>A) c.964-69G>A (n.964-69G>A) c.757-69G>A (n.757-69G>A) c.544-69G>A (n.544-69G>A) n.782-69G>A | dbSNP |
| X | g.154563499G>A | CA873344269 | IKBKG | c.877-60G>A (n.877-60G>A) c.913-60G>A (n.913-60G>A) c.511-60G>A (n.511-60G>A) c.*294-60G>A (n.*294-60G>A) n.2310-60G>A c.760-60G>A (n.760-60G>A) c.970-60G>A (n.970-60G>A) n.2313-60G>A c.616-60G>A (n.616-60G>A) c.*905-60G>A (n.*905-60G>A) c.889-60G>A (n.889-60G>A) c.910-60G>A (n.910-60G>A) c.1117-60G>A (n.1117-60G>A) c.892-60G>A (n.892-60G>A) c.1114-60G>A (n.1114-60G>A) c.964-60G>A (n.964-60G>A) c.757-60G>A (n.757-60G>A) c.544-60G>A (n.544-60G>A) n.782-60G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154563499G= | CA2466733752 | IKBKG | c.877-60G= (n.877-60G=) c.913-60G= (n.913-60G=) c.511-60G= (n.511-60G=) c.*294-60G= (n.*294-60G=) n.2310-60G= c.760-60G= (n.760-60G=) c.970-60G= (n.970-60G=) n.2313-60G= c.616-60G= (n.616-60G=) c.*905-60G= (n.*905-60G=) c.889-60G= (n.889-60G=) c.910-60G= (n.910-60G=) c.1117-60G= (n.1117-60G=) c.892-60G= (n.892-60G=) c.1114-60G= (n.1114-60G=) c.964-60G= (n.964-60G=) c.757-60G= (n.757-60G=) c.544-60G= (n.544-60G=) n.782-60G= | |
| X | g.154563512G= | CA2466733753 | IKBKG | c.877-47G= (n.877-47G=) c.913-47G= (n.913-47G=) c.511-47G= (n.511-47G=) c.*294-47G= (n.*294-47G=) n.2310-47G= c.760-47G= (n.760-47G=) c.970-47G= (n.970-47G=) n.2313-47G= c.616-47G= (n.616-47G=) c.*905-47G= (n.*905-47G=) c.889-47G= (n.889-47G=) c.910-47G= (n.910-47G=) c.1117-47G= (n.1117-47G=) c.892-47G= (n.892-47G=) c.1114-47G= (n.1114-47G=) c.964-47G= (n.964-47G=) c.757-47G= (n.757-47G=) c.544-47G= (n.544-47G=) n.782-47G= | |
| X | g.154563512G>T | CA645183458 | IKBKG | c.877-47G>T (n.877-47G>T) c.913-47G>T (n.913-47G>T) c.511-47G>T (n.511-47G>T) c.*294-47G>T (n.*294-47G>T) n.2310-47G>T c.760-47G>T (n.760-47G>T) c.970-47G>T (n.970-47G>T) n.2313-47G>T c.616-47G>T (n.616-47G>T) c.*905-47G>T (n.*905-47G>T) c.889-47G>T (n.889-47G>T) c.910-47G>T (n.910-47G>T) c.1117-47G>T (n.1117-47G>T) c.892-47G>T (n.892-47G>T) c.1114-47G>T (n.1114-47G>T) c.964-47G>T (n.964-47G>T) c.757-47G>T (n.757-47G>T) c.544-47G>T (n.544-47G>T) n.782-47G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154563514T>G | CA2824303919 | IKBKG | c.877-45T>G (n.877-45T>G) c.913-45T>G (n.913-45T>G) c.511-45T>G (n.511-45T>G) c.*294-45T>G (n.*294-45T>G) n.2310-45T>G c.760-45T>G (n.760-45T>G) c.970-45T>G (n.970-45T>G) n.2313-45T>G c.616-45T>G (n.616-45T>G) c.*905-45T>G (n.*905-45T>G) c.889-45T>G (n.889-45T>G) c.910-45T>G (n.910-45T>G) c.1117-45T>G (n.1117-45T>G) c.892-45T>G (n.892-45T>G) c.1114-45T>G (n.1114-45T>G) c.964-45T>G (n.964-45T>G) c.757-45T>G (n.757-45T>G) c.544-45T>G (n.544-45T>G) n.782-45T>G | |
| X | g.154563519G>C | CA2466733757 | IKBKG | c.877-40G>C (n.877-40G>C) c.913-40G>C (n.913-40G>C) c.511-40G>C (n.511-40G>C) c.*294-40G>C (n.*294-40G>C) n.2310-40G>C c.760-40G>C (n.760-40G>C) c.970-40G>C (n.970-40G>C) n.2313-40G>C c.616-40G>C (n.616-40G>C) c.*905-40G>C (n.*905-40G>C) c.889-40G>C (n.889-40G>C) c.910-40G>C (n.910-40G>C) c.1117-40G>C (n.1117-40G>C) c.892-40G>C (n.892-40G>C) c.1114-40G>C (n.1114-40G>C) c.964-40G>C (n.964-40G>C) c.757-40G>C (n.757-40G>C) c.544-40G>C (n.544-40G>C) n.782-40G>C | dbSNP |
| X | g.154563519G= | CA2466733756 | IKBKG | c.877-40G= (n.877-40G=) c.913-40G= (n.913-40G=) c.511-40G= (n.511-40G=) c.*294-40G= (n.*294-40G=) n.2310-40G= c.760-40G= (n.760-40G=) c.970-40G= (n.970-40G=) n.2313-40G= c.616-40G= (n.616-40G=) c.*905-40G= (n.*905-40G=) c.889-40G= (n.889-40G=) c.910-40G= (n.910-40G=) c.1117-40G= (n.1117-40G=) c.892-40G= (n.892-40G=) c.1114-40G= (n.1114-40G=) c.964-40G= (n.964-40G=) c.757-40G= (n.757-40G=) c.544-40G= (n.544-40G=) n.782-40G= | |
| X | g.154563528C= | CA2466733759 | IKBKG | c.877-31C= (n.877-31C=) c.913-31C= (n.913-31C=) c.511-31C= (n.511-31C=) c.*294-31C= (n.*294-31C=) n.2310-31C= c.760-31C= (n.760-31C=) c.970-31C= (n.970-31C=) n.2313-31C= c.616-31C= (n.616-31C=) c.*905-31C= (n.*905-31C=) c.889-31C= (n.889-31C=) c.910-31C= (n.910-31C=) c.1117-31C= (n.1117-31C=) c.892-31C= (n.892-31C=) c.1114-31C= (n.1114-31C=) c.964-31C= (n.964-31C=) c.757-31C= (n.757-31C=) c.544-31C= (n.544-31C=) n.782-31C= | |
| X | g.154563528C>T | CA645183459 | IKBKG | c.877-31C>T (n.877-31C>T) c.913-31C>T (n.913-31C>T) c.511-31C>T (n.511-31C>T) c.*294-31C>T (n.*294-31C>T) n.2310-31C>T c.760-31C>T (n.760-31C>T) c.970-31C>T (n.970-31C>T) n.2313-31C>T c.616-31C>T (n.616-31C>T) c.*905-31C>T (n.*905-31C>T) c.889-31C>T (n.889-31C>T) c.910-31C>T (n.910-31C>T) c.1117-31C>T (n.1117-31C>T) c.892-31C>T (n.892-31C>T) c.1114-31C>T (n.1114-31C>T) c.964-31C>T (n.964-31C>T) c.757-31C>T (n.757-31C>T) c.544-31C>T (n.544-31C>T) n.782-31C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154563529G>A | CA645183460 | IKBKG | c.877-30G>A (n.877-30G>A) c.913-30G>A (n.913-30G>A) c.511-30G>A (n.511-30G>A) c.*294-30G>A (n.*294-30G>A) n.2310-30G>A c.760-30G>A (n.760-30G>A) c.970-30G>A (n.970-30G>A) n.2313-30G>A c.616-30G>A (n.616-30G>A) c.*905-30G>A (n.*905-30G>A) c.889-30G>A (n.889-30G>A) c.910-30G>A (n.910-30G>A) c.1117-30G>A (n.1117-30G>A) c.892-30G>A (n.892-30G>A) c.1114-30G>A (n.1114-30G>A) c.964-30G>A (n.964-30G>A) c.757-30G>A (n.757-30G>A) c.544-30G>A (n.544-30G>A) n.782-30G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154563529G= | CA2466733761 | IKBKG | c.877-30G= (n.877-30G=) c.913-30G= (n.913-30G=) c.511-30G= (n.511-30G=) c.*294-30G= (n.*294-30G=) n.2310-30G= c.760-30G= (n.760-30G=) c.970-30G= (n.970-30G=) n.2313-30G= c.616-30G= (n.616-30G=) c.*905-30G= (n.*905-30G=) c.889-30G= (n.889-30G=) c.910-30G= (n.910-30G=) c.1117-30G= (n.1117-30G=) c.892-30G= (n.892-30G=) c.1114-30G= (n.1114-30G=) c.964-30G= (n.964-30G=) c.757-30G= (n.757-30G=) c.544-30G= (n.544-30G=) n.782-30G= | |
| X | g.154563536T>G | CA2557063094 | IKBKG | c.877-23T>G (n.877-23T>G) c.913-23T>G (n.913-23T>G) c.511-23T>G (n.511-23T>G) c.*294-23T>G (n.*294-23T>G) n.2310-23T>G c.760-23T>G (n.760-23T>G) c.970-23T>G (n.970-23T>G) n.2313-23T>G c.616-23T>G (n.616-23T>G) c.*905-23T>G (n.*905-23T>G) c.889-23T>G (n.889-23T>G) c.910-23T>G (n.910-23T>G) c.1117-23T>G (n.1117-23T>G) c.892-23T>G (n.892-23T>G) c.1114-23T>G (n.1114-23T>G) c.964-23T>G (n.964-23T>G) c.757-23T>G (n.757-23T>G) c.544-23T>G (n.544-23T>G) n.782-23T>G | |
| X | g.154563541T>G | CA2824303920 | IKBKG | c.877-18T>G (n.877-18T>G) c.913-18T>G (n.913-18T>G) c.511-18T>G (n.511-18T>G) c.*294-18T>G (n.*294-18T>G) n.2310-18T>G c.760-18T>G (n.760-18T>G) c.970-18T>G (n.970-18T>G) n.2313-18T>G c.616-18T>G (n.616-18T>G) c.*905-18T>G (n.*905-18T>G) c.889-18T>G (n.889-18T>G) c.910-18T>G (n.910-18T>G) c.1117-18T>G (n.1117-18T>G) c.892-18T>G (n.892-18T>G) c.1114-18T>G (n.1114-18T>G) c.964-18T>G (n.964-18T>G) c.757-18T>G (n.757-18T>G) c.544-18T>G (n.544-18T>G) n.782-18T>G | |
| X | g.154563552T>G | CA2824303921 | IKBKG | c.877-7T>G (n.877-7T>G) c.913-7T>G (n.913-7T>G) c.511-7T>G (n.511-7T>G) c.*294-7T>G (n.*294-7T>G) n.2310-7T>G c.760-7T>G (n.760-7T>G) c.970-7T>G (n.970-7T>G) n.2313-7T>G c.616-7T>G (n.616-7T>G) c.*905-7T>G (n.*905-7T>G) c.889-7T>G (n.889-7T>G) c.910-7T>G (n.910-7T>G) c.1117-7T>G (n.1117-7T>G) c.892-7T>G (n.892-7T>G) c.1114-7T>G (n.1114-7T>G) c.964-7T>G (n.964-7T>G) c.757-7T>G (n.757-7T>G) c.544-7T>G (n.544-7T>G) n.782-7T>G | |
| X | g.154563553T>G | CA2824303922 | IKBKG | c.877-6T>G (n.877-6T>G) c.913-6T>G (n.913-6T>G) c.511-6T>G (n.511-6T>G) c.*294-6T>G (n.*294-6T>G) n.2310-6T>G c.760-6T>G (n.760-6T>G) c.970-6T>G (n.970-6T>G) n.2313-6T>G c.616-6T>G (n.616-6T>G) c.*905-6T>G (n.*905-6T>G) c.889-6T>G (n.889-6T>G) c.910-6T>G (n.910-6T>G) c.1117-6T>G (n.1117-6T>G) c.892-6T>G (n.892-6T>G) c.1114-6T>G (n.1114-6T>G) c.964-6T>G (n.964-6T>G) c.757-6T>G (n.757-6T>G) c.544-6T>G (n.544-6T>G) n.782-6T>G | |
| X | g.154563556del | CA2695237086 | IKBKG | c.877-3del (n.877-3del) c.913-3del (n.913-3del) c.511-3del (n.511-3del) c.*294-3del (n.*294-3del) n.2310-3del c.760-3del (n.760-3del) c.970-3del (n.970-3del) n.2313-3del c.616-3del (n.616-3del) c.*905-3del (n.*905-3del) c.889-3del (n.889-3del) c.910-3del (n.910-3del) c.1117-3del (n.1117-3del) c.892-3del (n.892-3del) c.1114-3del (n.1114-3del) c.964-3del (n.964-3del) c.757-3del (n.757-3del) c.544-3del (n.544-3del) n.782-3del | |
| X | g.154563557A>C | CA415217244 | IKBKG | c.877-2A>C (n.877-2A>C) c.913-2A>C (n.913-2A>C) c.511-2A>C (n.511-2A>C) c.*294-2A>C (n.*294-2A>C) n.2310-2A>C c.760-2A>C (n.760-2A>C) c.970-2A>C (n.970-2A>C) n.2313-2A>C c.616-2A>C (n.616-2A>C) c.*905-2A>C (n.*905-2A>C) c.889-2A>C (n.889-2A>C) c.910-2A>C (n.910-2A>C) c.1117-2A>C (n.1117-2A>C) c.892-2A>C (n.892-2A>C) c.1114-2A>C (n.1114-2A>C) c.964-2A>C (n.964-2A>C) c.757-2A>C (n.757-2A>C) c.544-2A>C (n.544-2A>C) n.782-2A>C | |
| X | g.154563557A>G | CA415217248 | IKBKG | c.877-2A>G (n.877-2A>G) c.913-2A>G (n.913-2A>G) c.511-2A>G (n.511-2A>G) c.*294-2A>G (n.*294-2A>G) n.2310-2A>G c.760-2A>G (n.760-2A>G) c.970-2A>G (n.970-2A>G) n.2313-2A>G c.616-2A>G (n.616-2A>G) c.*905-2A>G (n.*905-2A>G) c.889-2A>G (n.889-2A>G) c.910-2A>G (n.910-2A>G) c.1117-2A>G (n.1117-2A>G) c.892-2A>G (n.892-2A>G) c.1114-2A>G (n.1114-2A>G) c.964-2A>G (n.964-2A>G) c.757-2A>G (n.757-2A>G) c.544-2A>G (n.544-2A>G) n.782-2A>G | |
| X | g.154563557A>T | CA415217252 | IKBKG | c.877-2A>T (n.877-2A>T) c.913-2A>T (n.913-2A>T) c.511-2A>T (n.511-2A>T) c.*294-2A>T (n.*294-2A>T) n.2310-2A>T c.760-2A>T (n.760-2A>T) c.970-2A>T (n.970-2A>T) n.2313-2A>T c.616-2A>T (n.616-2A>T) c.*905-2A>T (n.*905-2A>T) c.889-2A>T (n.889-2A>T) c.910-2A>T (n.910-2A>T) c.1117-2A>T (n.1117-2A>T) c.892-2A>T (n.892-2A>T) c.1114-2A>T (n.1114-2A>T) c.964-2A>T (n.964-2A>T) c.757-2A>T (n.757-2A>T) c.544-2A>T (n.544-2A>T) n.782-2A>T | |
| X | g.154563558G>A | CA415217257 | IKBKG | c.877-1G>A (n.877-1G>A) c.913-1G>A (n.913-1G>A) c.511-1G>A (n.511-1G>A) c.*294-1G>A (n.*294-1G>A) n.2310-1G>A c.760-1G>A (n.760-1G>A) c.970-1G>A (n.970-1G>A) n.2313-1G>A c.616-1G>A (n.616-1G>A) c.*905-1G>A (n.*905-1G>A) c.889-1G>A (n.889-1G>A) c.910-1G>A (n.910-1G>A) c.1117-1G>A (n.1117-1G>A) c.892-1G>A (n.892-1G>A) c.1114-1G>A (n.1114-1G>A) c.964-1G>A (n.964-1G>A) c.757-1G>A (n.757-1G>A) c.544-1G>A (n.544-1G>A) n.782-1G>A | |
| X | g.154563558G>C | CA415217263 | IKBKG | c.877-1G>C (n.877-1G>C) c.913-1G>C (n.913-1G>C) c.511-1G>C (n.511-1G>C) c.*294-1G>C (n.*294-1G>C) n.2310-1G>C c.760-1G>C (n.760-1G>C) c.970-1G>C (n.970-1G>C) n.2313-1G>C c.616-1G>C (n.616-1G>C) c.*905-1G>C (n.*905-1G>C) c.889-1G>C (n.889-1G>C) c.910-1G>C (n.910-1G>C) c.1117-1G>C (n.1117-1G>C) c.892-1G>C (n.892-1G>C) c.1114-1G>C (n.1114-1G>C) c.964-1G>C (n.964-1G>C) c.757-1G>C (n.757-1G>C) c.544-1G>C (n.544-1G>C) n.782-1G>C | |
| X | g.154563558G>T | CA415217261 | IKBKG | c.877-1G>T (n.877-1G>T) c.913-1G>T (n.913-1G>T) c.511-1G>T (n.511-1G>T) c.*294-1G>T (n.*294-1G>T) n.2310-1G>T c.760-1G>T (n.760-1G>T) c.970-1G>T (n.970-1G>T) n.2313-1G>T c.616-1G>T (n.616-1G>T) c.*905-1G>T (n.*905-1G>T) c.889-1G>T (n.889-1G>T) c.910-1G>T (n.910-1G>T) c.1117-1G>T (n.1117-1G>T) c.892-1G>T (n.892-1G>T) c.1114-1G>T (n.1114-1G>T) c.964-1G>T (n.964-1G>T) c.757-1G>T (n.757-1G>T) c.544-1G>T (n.544-1G>T) n.782-1G>T | |
| X | g.154563559G>A | CA415217268 | IKBKG | c.877G>A (p.Ala293Thr) c.913G>A (p.Ala305Thr) c.511G>A (p.Ala171Thr) c.*294G>A (n.*294G>A) n.2310G>A c.760G>A (p.Ala254Thr) c.970G>A (p.Ala324Thr) n.2313G>A c.616G>A (p.Ala206Thr) c.*905G>A (n.*905G>A) c.889G>A (p.Ala297Thr) c.910G>A (p.Ala304Thr) c.1117G>A (p.Ala373Thr) c.892G>A (p.Ala298Thr) c.1114G>A (p.Ala372Thr) c.964G>A (p.Ala322Thr) c.757G>A (p.Ala253Thr) c.544G>A (p.Ala182Thr) n.782G>A | |
| X | g.154563559G>C | CA415217276 | IKBKG | c.877G>C (p.Ala293Pro) c.913G>C (p.Ala305Pro) c.511G>C (p.Ala171Pro) c.*294G>C (n.*294G>C) n.2310G>C c.760G>C (p.Ala254Pro) c.970G>C (p.Ala324Pro) n.2313G>C c.616G>C (p.Ala206Pro) c.*905G>C (n.*905G>C) c.889G>C (p.Ala297Pro) c.910G>C (p.Ala304Pro) c.1117G>C (p.Ala373Pro) c.892G>C (p.Ala298Pro) c.1114G>C (p.Ala372Pro) c.964G>C (p.Ala322Pro) c.757G>C (p.Ala253Pro) c.544G>C (p.Ala182Pro) n.782G>C | |
| X | g.154563559G>T | CA415217272 | IKBKG | c.877G>T (p.Ala293Ser) c.913G>T (p.Ala305Ser) c.511G>T (p.Ala171Ser) c.*294G>T (n.*294G>T) n.2310G>T c.760G>T (p.Ala254Ser) c.970G>T (p.Ala324Ser) n.2313G>T c.616G>T (p.Ala206Ser) c.*905G>T (n.*905G>T) c.889G>T (p.Ala297Ser) c.910G>T (p.Ala304Ser) c.1117G>T (p.Ala373Ser) c.892G>T (p.Ala298Ser) c.1114G>T (p.Ala372Ser) c.964G>T (p.Ala322Ser) c.757G>T (p.Ala253Ser) c.544G>T (p.Ala182Ser) n.782G>T | |
| X | g.154563560C>A | CA415217281 | IKBKG | c.878C>A (p.Ala293Glu) c.914C>A (p.Ala305Glu) c.512C>A (p.Ala171Glu) c.*295C>A (n.*295C>A) n.2311C>A c.761C>A (p.Ala254Glu) c.971C>A (p.Ala324Glu) n.2314C>A c.617C>A (p.Ala206Glu) c.*906C>A (n.*906C>A) c.890C>A (p.Ala297Glu) c.911C>A (p.Ala304Glu) c.1118C>A (p.Ala373Glu) c.893C>A (p.Ala298Glu) c.1115C>A (p.Ala372Glu) c.965C>A (p.Ala322Glu) c.758C>A (p.Ala253Glu) c.545C>A (p.Ala182Glu) n.783C>A | |
| X | g.154563560C>G | CA415217285 | IKBKG | c.878C>G (p.Ala293Gly) c.914C>G (p.Ala305Gly) c.512C>G (p.Ala171Gly) c.*295C>G (n.*295C>G) n.2311C>G c.761C>G (p.Ala254Gly) c.971C>G (p.Ala324Gly) n.2314C>G c.617C>G (p.Ala206Gly) c.*906C>G (n.*906C>G) c.890C>G (p.Ala297Gly) c.911C>G (p.Ala304Gly) c.1118C>G (p.Ala373Gly) c.893C>G (p.Ala298Gly) c.1115C>G (p.Ala372Gly) c.965C>G (p.Ala322Gly) c.758C>G (p.Ala253Gly) c.545C>G (p.Ala182Gly) n.783C>G | |
| X | g.154563560C>T | CA415217289 | IKBKG | c.878C>T (p.Ala293Val) c.914C>T (p.Ala305Val) c.512C>T (p.Ala171Val) c.*295C>T (n.*295C>T) n.2311C>T c.761C>T (p.Ala254Val) c.971C>T (p.Ala324Val) n.2314C>T c.617C>T (p.Ala206Val) c.*906C>T (n.*906C>T) c.890C>T (p.Ala297Val) c.911C>T (p.Ala304Val) c.1118C>T (p.Ala373Val) c.893C>T (p.Ala298Val) c.1115C>T (p.Ala372Val) c.965C>T (p.Ala322Val) c.758C>T (p.Ala253Val) c.545C>T (p.Ala182Val) n.783C>T | |
| X | g.154563561G>A | CA519286602 | IKBKG | c.879G>A (p.Ala293=) c.915G>A (p.Ala305=) c.513G>A (p.Ala171=) c.*296G>A (n.*296G>A) n.2312G>A c.762G>A (p.Ala254=) c.972G>A (p.Ala324=) n.2315G>A c.618G>A (p.Ala206=) c.*907G>A (n.*907G>A) c.891G>A (p.Ala297=) c.912G>A (p.Ala304=) c.1119G>A (p.Ala373=) c.894G>A (p.Ala298=) c.1116G>A (p.Ala372=) c.966G>A (p.Ala322=) c.759G>A (p.Ala253=) c.546G>A (p.Ala182=) n.784G>A | |
| X | g.154563561G>C | CA519286598 | IKBKG | c.879G>C (p.Ala293=) c.915G>C (p.Ala305=) c.513G>C (p.Ala171=) c.*296G>C (n.*296G>C) n.2312G>C c.762G>C (p.Ala254=) c.972G>C (p.Ala324=) n.2315G>C c.618G>C (p.Ala206=) c.*907G>C (n.*907G>C) c.891G>C (p.Ala297=) c.912G>C (p.Ala304=) c.1119G>C (p.Ala373=) c.894G>C (p.Ala298=) c.1116G>C (p.Ala372=) c.966G>C (p.Ala322=) c.759G>C (p.Ala253=) c.546G>C (p.Ala182=) n.784G>C | |
| X | g.154563561G>T | CA519286600 | IKBKG | c.879G>T (p.Ala293=) c.915G>T (p.Ala305=) c.513G>T (p.Ala171=) c.*296G>T (n.*296G>T) n.2312G>T c.762G>T (p.Ala254=) c.972G>T (p.Ala324=) n.2315G>T c.618G>T (p.Ala206=) c.*907G>T (n.*907G>T) c.891G>T (p.Ala297=) c.912G>T (p.Ala304=) c.1119G>T (p.Ala373=) c.894G>T (p.Ala298=) c.1116G>T (p.Ala372=) c.966G>T (p.Ala322=) c.759G>T (p.Ala253=) c.546G>T (p.Ala182=) n.784G>T | |
| X | g.154563562G>A | CA415217295 | IKBKG | c.880G>A (p.Asp294Asn) c.916G>A (p.Asp306Asn) c.514G>A (p.Asp172Asn) c.*297G>A (n.*297G>A) n.2313G>A c.763G>A (p.Asp255Asn) c.973G>A (p.Asp325Asn) n.2316G>A c.619G>A (p.Asp207Asn) c.*908G>A (n.*908G>A) c.892G>A (p.Asp298Asn) c.913G>A (p.Asp305Asn) c.1120G>A (p.Asp374Asn) c.895G>A (p.Asp299Asn) c.1117G>A (p.Asp373Asn) c.967G>A (p.Asp323Asn) c.760G>A (p.Asp254Asn) c.547G>A (p.Asp183Asn) n.785G>A | |
| X | g.154563562G>C | CA415217296 | IKBKG | c.880G>C (p.Asp294His) c.916G>C (p.Asp306His) c.514G>C (p.Asp172His) c.*297G>C (n.*297G>C) n.2313G>C c.763G>C (p.Asp255His) c.973G>C (p.Asp325His) n.2316G>C c.619G>C (p.Asp207His) c.*908G>C (n.*908G>C) c.892G>C (p.Asp298His) c.913G>C (p.Asp305His) c.1120G>C (p.Asp374His) c.895G>C (p.Asp299His) c.1117G>C (p.Asp373His) c.967G>C (p.Asp323His) c.760G>C (p.Asp254His) c.547G>C (p.Asp183His) n.785G>C | |
| X | g.154563562G>T | CA415217297 | IKBKG | c.880G>T (p.Asp294Tyr) c.916G>T (p.Asp306Tyr) c.514G>T (p.Asp172Tyr) c.*297G>T (n.*297G>T) n.2313G>T c.763G>T (p.Asp255Tyr) c.973G>T (p.Asp325Tyr) n.2316G>T c.619G>T (p.Asp207Tyr) c.*908G>T (n.*908G>T) c.892G>T (p.Asp298Tyr) c.913G>T (p.Asp305Tyr) c.1120G>T (p.Asp374Tyr) c.895G>T (p.Asp299Tyr) c.1117G>T (p.Asp373Tyr) c.967G>T (p.Asp323Tyr) c.760G>T (p.Asp254Tyr) c.547G>T (p.Asp183Tyr) n.785G>T | |
| X | g.154563563A>C | CA415217299 | IKBKG | c.881A>C (p.Asp294Ala) c.917A>C (p.Asp306Ala) c.515A>C (p.Asp172Ala) c.*298A>C (n.*298A>C) n.2314A>C c.764A>C (p.Asp255Ala) c.974A>C (p.Asp325Ala) n.2317A>C c.620A>C (p.Asp207Ala) c.*909A>C (n.*909A>C) c.893A>C (p.Asp298Ala) c.914A>C (p.Asp305Ala) c.1121A>C (p.Asp374Ala) c.896A>C (p.Asp299Ala) c.1118A>C (p.Asp373Ala) c.968A>C (p.Asp323Ala) c.761A>C (p.Asp254Ala) c.548A>C (p.Asp183Ala) n.786A>C | |
| X | g.154563563A>G | CA415217300 | IKBKG | c.881A>G (p.Asp294Gly) c.917A>G (p.Asp306Gly) c.515A>G (p.Asp172Gly) c.*298A>G (n.*298A>G) n.2314A>G c.764A>G (p.Asp255Gly) c.974A>G (p.Asp325Gly) n.2317A>G c.620A>G (p.Asp207Gly) c.*909A>G (n.*909A>G) c.893A>G (p.Asp298Gly) c.914A>G (p.Asp305Gly) c.1121A>G (p.Asp374Gly) c.896A>G (p.Asp299Gly) c.1118A>G (p.Asp373Gly) c.968A>G (p.Asp323Gly) c.761A>G (p.Asp254Gly) c.548A>G (p.Asp183Gly) n.786A>G | |
| X | g.154563563A>T | CA415217302 | IKBKG | c.881A>T (p.Asp294Val) c.917A>T (p.Asp306Val) c.515A>T (p.Asp172Val) c.*298A>T (n.*298A>T) n.2314A>T c.764A>T (p.Asp255Val) c.974A>T (p.Asp325Val) n.2317A>T c.620A>T (p.Asp207Val) c.*909A>T (n.*909A>T) c.893A>T (p.Asp298Val) c.914A>T (p.Asp305Val) c.1121A>T (p.Asp374Val) c.896A>T (p.Asp299Val) c.1118A>T (p.Asp373Val) c.968A>T (p.Asp323Val) c.761A>T (p.Asp254Val) c.548A>T (p.Asp183Val) n.786A>T | |
| X | g.154563564T>A | CA415217306 | IKBKG | c.882T>A (p.Asp294Glu) c.918T>A (p.Asp306Glu) c.516T>A (p.Asp172Glu) c.*299T>A (n.*299T>A) n.2315T>A c.765T>A (p.Asp255Glu) c.975T>A (p.Asp325Glu) n.2318T>A c.621T>A (p.Asp207Glu) c.*910T>A (n.*910T>A) c.894T>A (p.Asp298Glu) c.915T>A (p.Asp305Glu) c.1122T>A (p.Asp374Glu) c.897T>A (p.Asp299Glu) c.1119T>A (p.Asp373Glu) c.969T>A (p.Asp323Glu) c.762T>A (p.Asp254Glu) c.549T>A (p.Asp183Glu) n.787T>A | |
| X | g.154563564T>C | CA519286607 | IKBKG | c.882T>C (p.Asp294=) c.918T>C (p.Asp306=) c.516T>C (p.Asp172=) c.*299T>C (n.*299T>C) n.2315T>C c.765T>C (p.Asp255=) c.975T>C (p.Asp325=) n.2318T>C c.621T>C (p.Asp207=) c.*910T>C (n.*910T>C) c.894T>C (p.Asp298=) c.915T>C (p.Asp305=) c.1122T>C (p.Asp374=) c.897T>C (p.Asp299=) c.1119T>C (p.Asp373=) c.969T>C (p.Asp323=) c.762T>C (p.Asp254=) c.549T>C (p.Asp183=) n.787T>C | |
| X | g.154563564T>G | CA415217307 | IKBKG | c.882T>G (p.Asp294Glu) c.918T>G (p.Asp306Glu) c.516T>G (p.Asp172Glu) c.*299T>G (n.*299T>G) n.2315T>G c.765T>G (p.Asp255Glu) c.975T>G (p.Asp325Glu) n.2318T>G c.621T>G (p.Asp207Glu) c.*910T>G (n.*910T>G) c.894T>G (p.Asp298Glu) c.915T>G (p.Asp305Glu) c.1122T>G (p.Asp374Glu) c.897T>G (p.Asp299Glu) c.1119T>G (p.Asp373Glu) c.969T>G (p.Asp323Glu) c.762T>G (p.Asp254Glu) c.549T>G (p.Asp183Glu) n.787T>G | |
| X | g.154563565A>C | CA415217319 | IKBKG | c.883A>C (p.Ile295Leu) c.919A>C (p.Ile307Leu) c.517A>C (p.Ile173Leu) c.*300A>C (n.*300A>C) n.2316A>C c.766A>C (p.Ile256Leu) c.976A>C (p.Ile326Leu) n.2319A>C c.622A>C (p.Ile208Leu) c.*911A>C (n.*911A>C) c.895A>C (p.Ile299Leu) c.916A>C (p.Ile306Leu) c.1123A>C (p.Ile375Leu) c.898A>C (p.Ile300Leu) c.1120A>C (p.Ile374Leu) c.970A>C (p.Ile324Leu) c.763A>C (p.Ile255Leu) c.550A>C (p.Ile184Leu) n.788A>C | |
| X | g.154563565A>G | CA415217313 | IKBKG | c.883A>G (p.Ile295Val) c.919A>G (p.Ile307Val) c.517A>G (p.Ile173Val) c.*300A>G (n.*300A>G) n.2316A>G c.766A>G (p.Ile256Val) c.976A>G (p.Ile326Val) n.2319A>G c.622A>G (p.Ile208Val) c.*911A>G (n.*911A>G) c.895A>G (p.Ile299Val) c.916A>G (p.Ile306Val) c.1123A>G (p.Ile375Val) c.898A>G (p.Ile300Val) c.1120A>G (p.Ile374Val) c.970A>G (p.Ile324Val) c.763A>G (p.Ile255Val) c.550A>G (p.Ile184Val) n.788A>G | |
| X | g.154563565A>T | CA415217315 | IKBKG | c.883A>T (p.Ile295Phe) c.919A>T (p.Ile307Phe) c.517A>T (p.Ile173Phe) c.*300A>T (n.*300A>T) n.2316A>T c.766A>T (p.Ile256Phe) c.976A>T (p.Ile326Phe) n.2319A>T c.622A>T (p.Ile208Phe) c.*911A>T (n.*911A>T) c.895A>T (p.Ile299Phe) c.916A>T (p.Ile306Phe) c.1123A>T (p.Ile375Phe) c.898A>T (p.Ile300Phe) c.1120A>T (p.Ile374Phe) c.970A>T (p.Ile324Phe) c.763A>T (p.Ile255Phe) c.550A>T (p.Ile184Phe) n.788A>T | |
| X | g.154563566T>A | CA415217325 | IKBKG | c.884T>A (p.Ile295Asn) c.920T>A (p.Ile307Asn) c.518T>A (p.Ile173Asn) c.*301T>A (n.*301T>A) n.2317T>A c.767T>A (p.Ile256Asn) c.977T>A (p.Ile326Asn) n.2320T>A c.623T>A (p.Ile208Asn) c.*912T>A (n.*912T>A) c.896T>A (p.Ile299Asn) c.917T>A (p.Ile306Asn) c.1124T>A (p.Ile375Asn) c.899T>A (p.Ile300Asn) c.1121T>A (p.Ile374Asn) c.971T>A (p.Ile324Asn) c.764T>A (p.Ile255Asn) c.551T>A (p.Ile184Asn) n.789T>A | |
| X | g.154563566T>C | CA415217329 | IKBKG | c.884T>C (p.Ile295Thr) c.920T>C (p.Ile307Thr) c.518T>C (p.Ile173Thr) c.*301T>C (n.*301T>C) n.2317T>C c.767T>C (p.Ile256Thr) c.977T>C (p.Ile326Thr) n.2320T>C c.623T>C (p.Ile208Thr) c.*912T>C (n.*912T>C) c.896T>C (p.Ile299Thr) c.917T>C (p.Ile306Thr) c.1124T>C (p.Ile375Thr) c.899T>C (p.Ile300Thr) c.1121T>C (p.Ile374Thr) c.971T>C (p.Ile324Thr) c.764T>C (p.Ile255Thr) c.551T>C (p.Ile184Thr) n.789T>C | |
| X | g.154563566T>G | CA415217332 | IKBKG | c.884T>G (p.Ile295Ser) c.920T>G (p.Ile307Ser) c.518T>G (p.Ile173Ser) c.*301T>G (n.*301T>G) n.2317T>G c.767T>G (p.Ile256Ser) c.977T>G (p.Ile326Ser) n.2320T>G c.623T>G (p.Ile208Ser) c.*912T>G (n.*912T>G) c.896T>G (p.Ile299Ser) c.917T>G (p.Ile306Ser) c.1124T>G (p.Ile375Ser) c.899T>G (p.Ile300Ser) c.1121T>G (p.Ile374Ser) c.971T>G (p.Ile324Ser) c.764T>G (p.Ile255Ser) c.551T>G (p.Ile184Ser) n.789T>G | |
| X | g.154563567_154563580del | CA2695237087 | IKBKG | c.885_898del (p.Tyr296ProfsTer3) c.921_934del (p.Tyr308ProfsTer3) c.519_532del (p.Tyr174ProfsTer3) c.*302_*315del (n.*302_*315del) n.2318_2331del c.768_781del (p.Tyr257ProfsTer3) c.978_991del (p.Tyr327ProfsTer3) n.2321_2334del c.624_637del (p.Tyr209ProfsTer3) c.*913_*926del (n.*913_*926del) c.897_910del (p.Tyr300ProfsTer3) c.918_931del (p.Tyr307ProfsTer3) c.1125_1138del (p.Tyr376ProfsTer3) c.900_913del (p.Tyr301ProfsTer3) c.1122_1135del (p.Tyr375ProfsTer3) c.972_985del (p.Tyr325ProfsTer3) c.765_778del (p.Tyr256ProfsTer3) c.552_565del (p.Tyr185ProfsTer3) n.790_803del | |
| X | g.154563567C>A | CA519286615 | IKBKG | c.885C>A (p.Ile295=) c.921C>A (p.Ile307=) c.519C>A (p.Ile173=) c.*302C>A (n.*302C>A) n.2318C>A c.768C>A (p.Ile256=) c.978C>A (p.Ile326=) n.2321C>A c.624C>A (p.Ile208=) c.*913C>A (n.*913C>A) c.897C>A (p.Ile299=) c.918C>A (p.Ile306=) c.1125C>A (p.Ile375=) c.900C>A (p.Ile300=) c.1122C>A (p.Ile374=) c.972C>A (p.Ile324=) c.765C>A (p.Ile255=) c.552C>A (p.Ile184=) n.790C>A | |
| X | g.154563567C>G | CA415217335 | IKBKG | c.885C>G (p.Ile295Met) c.921C>G (p.Ile307Met) c.519C>G (p.Ile173Met) c.*302C>G (n.*302C>G) n.2318C>G c.768C>G (p.Ile256Met) c.978C>G (p.Ile326Met) n.2321C>G c.624C>G (p.Ile208Met) c.*913C>G (n.*913C>G) c.897C>G (p.Ile299Met) c.918C>G (p.Ile306Met) c.1125C>G (p.Ile375Met) c.900C>G (p.Ile300Met) c.1122C>G (p.Ile374Met) c.972C>G (p.Ile324Met) c.765C>G (p.Ile255Met) c.552C>G (p.Ile184Met) n.790C>G | |
| X | g.154563567C>T | CA519286618 | IKBKG | c.885C>T (p.Ile295=) c.921C>T (p.Ile307=) c.519C>T (p.Ile173=) c.*302C>T (n.*302C>T) n.2318C>T c.768C>T (p.Ile256=) c.978C>T (p.Ile326=) n.2321C>T c.624C>T (p.Ile208=) c.*913C>T (n.*913C>T) c.897C>T (p.Ile299=) c.918C>T (p.Ile306=) c.1125C>T (p.Ile375=) c.900C>T (p.Ile300=) c.1122C>T (p.Ile374=) c.972C>T (p.Ile324=) c.765C>T (p.Ile255=) c.552C>T (p.Ile184=) n.790C>T | |
| X | g.154563568T>A | CA415217340 | IKBKG | c.886T>A (p.Tyr296Asn) c.922T>A (p.Tyr308Asn) c.520T>A (p.Tyr174Asn) c.*303T>A (n.*303T>A) n.2319T>A c.769T>A (p.Tyr257Asn) c.979T>A (p.Tyr327Asn) n.2322T>A c.625T>A (p.Tyr209Asn) c.*914T>A (n.*914T>A) c.898T>A (p.Tyr300Asn) c.919T>A (p.Tyr307Asn) c.1126T>A (p.Tyr376Asn) c.901T>A (p.Tyr301Asn) c.1123T>A (p.Tyr375Asn) c.973T>A (p.Tyr325Asn) c.766T>A (p.Tyr256Asn) c.553T>A (p.Tyr185Asn) n.791T>A | |
| X | g.154563568T>C | CA415217343 | IKBKG | c.886T>C (p.Tyr296His) c.922T>C (p.Tyr308His) c.520T>C (p.Tyr174His) c.*303T>C (n.*303T>C) n.2319T>C c.769T>C (p.Tyr257His) c.979T>C (p.Tyr327His) n.2322T>C c.625T>C (p.Tyr209His) c.*914T>C (n.*914T>C) c.898T>C (p.Tyr300His) c.919T>C (p.Tyr307His) c.1126T>C (p.Tyr376His) c.901T>C (p.Tyr301His) c.1123T>C (p.Tyr375His) c.973T>C (p.Tyr325His) c.766T>C (p.Tyr256His) c.553T>C (p.Tyr185His) n.791T>C | |
| X | g.154563568T>G | CA415217358 | IKBKG | c.886T>G (p.Tyr296Asp) c.922T>G (p.Tyr308Asp) c.520T>G (p.Tyr174Asp) c.*303T>G (n.*303T>G) n.2319T>G c.769T>G (p.Tyr257Asp) c.979T>G (p.Tyr327Asp) n.2322T>G c.625T>G (p.Tyr209Asp) c.*914T>G (n.*914T>G) c.898T>G (p.Tyr300Asp) c.919T>G (p.Tyr307Asp) c.1126T>G (p.Tyr376Asp) c.901T>G (p.Tyr301Asp) c.1123T>G (p.Tyr375Asp) c.973T>G (p.Tyr325Asp) c.766T>G (p.Tyr256Asp) c.553T>G (p.Tyr185Asp) n.791T>G | |
| X | g.154563569A>C | CA415217361 | IKBKG | c.887A>C (p.Tyr296Ser) c.923A>C (p.Tyr308Ser) c.521A>C (p.Tyr174Ser) c.*304A>C (n.*304A>C) n.2320A>C c.770A>C (p.Tyr257Ser) c.980A>C (p.Tyr327Ser) n.2323A>C c.626A>C (p.Tyr209Ser) c.*915A>C (n.*915A>C) c.899A>C (p.Tyr300Ser) c.920A>C (p.Tyr307Ser) c.1127A>C (p.Tyr376Ser) c.902A>C (p.Tyr301Ser) c.1124A>C (p.Tyr375Ser) c.974A>C (p.Tyr325Ser) c.767A>C (p.Tyr256Ser) c.554A>C (p.Tyr185Ser) n.792A>C | |
| X | g.154563569A>G | CA415217362 | IKBKG | c.887A>G (p.Tyr296Cys) c.923A>G (p.Tyr308Cys) c.521A>G (p.Tyr174Cys) c.*304A>G (n.*304A>G) n.2320A>G c.770A>G (p.Tyr257Cys) c.980A>G (p.Tyr327Cys) n.2323A>G c.626A>G (p.Tyr209Cys) c.*915A>G (n.*915A>G) c.899A>G (p.Tyr300Cys) c.920A>G (p.Tyr307Cys) c.1127A>G (p.Tyr376Cys) c.902A>G (p.Tyr301Cys) c.1124A>G (p.Tyr375Cys) c.974A>G (p.Tyr325Cys) c.767A>G (p.Tyr256Cys) c.554A>G (p.Tyr185Cys) n.792A>G | |
| X | g.154563569A>T | CA415217363 | IKBKG | c.887A>T (p.Tyr296Phe) c.923A>T (p.Tyr308Phe) c.521A>T (p.Tyr174Phe) c.*304A>T (n.*304A>T) n.2320A>T c.770A>T (p.Tyr257Phe) c.980A>T (p.Tyr327Phe) n.2323A>T c.626A>T (p.Tyr209Phe) c.*915A>T (n.*915A>T) c.899A>T (p.Tyr300Phe) c.920A>T (p.Tyr307Phe) c.1127A>T (p.Tyr376Phe) c.902A>T (p.Tyr301Phe) c.1124A>T (p.Tyr375Phe) c.974A>T (p.Tyr325Phe) c.767A>T (p.Tyr256Phe) c.554A>T (p.Tyr185Phe) n.792A>T | |
| X | g.154563570C>A | CA415217365 | IKBKG | c.888C>A (p.Tyr296Ter) c.924C>A (p.Tyr308Ter) c.522C>A (p.Tyr174Ter) c.*305C>A (n.*305C>A) n.2321C>A c.771C>A (p.Tyr257Ter) c.981C>A (p.Tyr327Ter) n.2324C>A c.627C>A (p.Tyr209Ter) c.*916C>A (n.*916C>A) c.900C>A (p.Tyr300Ter) c.921C>A (p.Tyr307Ter) c.1128C>A (p.Tyr376Ter) c.903C>A (p.Tyr301Ter) c.1125C>A (p.Tyr375Ter) c.975C>A (p.Tyr325Ter) c.768C>A (p.Tyr256Ter) c.555C>A (p.Tyr185Ter) n.793C>A | |
| X | g.154563570C>G | CA415217367 | IKBKG | c.888C>G (p.Tyr296Ter) c.924C>G (p.Tyr308Ter) c.522C>G (p.Tyr174Ter) c.*305C>G (n.*305C>G) n.2321C>G c.771C>G (p.Tyr257Ter) c.981C>G (p.Tyr327Ter) n.2324C>G c.627C>G (p.Tyr209Ter) c.*916C>G (n.*916C>G) c.900C>G (p.Tyr300Ter) c.921C>G (p.Tyr307Ter) c.1128C>G (p.Tyr376Ter) c.903C>G (p.Tyr301Ter) c.1125C>G (p.Tyr375Ter) c.975C>G (p.Tyr325Ter) c.768C>G (p.Tyr256Ter) c.555C>G (p.Tyr185Ter) n.793C>G | |
| X | g.154563570C>T | CA519286624 | IKBKG | c.888C>T (p.Tyr296=) c.924C>T (p.Tyr308=) c.522C>T (p.Tyr174=) c.*305C>T (n.*305C>T) n.2321C>T c.771C>T (p.Tyr257=) c.981C>T (p.Tyr327=) n.2324C>T c.627C>T (p.Tyr209=) c.*916C>T (n.*916C>T) c.900C>T (p.Tyr300=) c.921C>T (p.Tyr307=) c.1128C>T (p.Tyr376=) c.903C>T (p.Tyr301=) c.1125C>T (p.Tyr375=) c.975C>T (p.Tyr325=) c.768C>T (p.Tyr256=) c.555C>T (p.Tyr185=) n.793C>T | |
| X | g.154563571A>C | CA415217373 | IKBKG | c.889A>C (p.Lys297Gln) c.925A>C (p.Lys309Gln) c.523A>C (p.Lys175Gln) c.*306A>C (n.*306A>C) n.2322A>C c.772A>C (p.Lys258Gln) c.982A>C (p.Lys328Gln) n.2325A>C c.628A>C (p.Lys210Gln) c.*917A>C (n.*917A>C) c.901A>C (p.Lys301Gln) c.922A>C (p.Lys308Gln) c.1129A>C (p.Lys377Gln) c.904A>C (p.Lys302Gln) c.1126A>C (p.Lys376Gln) c.976A>C (p.Lys326Gln) c.769A>C (p.Lys257Gln) c.556A>C (p.Lys186Gln) n.794A>C | |
| X | g.154563571A>G | CA415217375 | IKBKG | c.889A>G (p.Lys297Glu) c.925A>G (p.Lys309Glu) c.523A>G (p.Lys175Glu) c.*306A>G (n.*306A>G) n.2322A>G c.772A>G (p.Lys258Glu) c.982A>G (p.Lys328Glu) n.2325A>G c.628A>G (p.Lys210Glu) c.*917A>G (n.*917A>G) c.901A>G (p.Lys301Glu) c.922A>G (p.Lys308Glu) c.1129A>G (p.Lys377Glu) c.904A>G (p.Lys302Glu) c.1126A>G (p.Lys376Glu) c.976A>G (p.Lys326Glu) c.769A>G (p.Lys257Glu) c.556A>G (p.Lys186Glu) n.794A>G | |
| X | g.154563571A>T | CA415217378 | IKBKG | c.889A>T (p.Lys297Ter) c.925A>T (p.Lys309Ter) c.523A>T (p.Lys175Ter) c.*306A>T (n.*306A>T) n.2322A>T c.772A>T (p.Lys258Ter) c.982A>T (p.Lys328Ter) n.2325A>T c.628A>T (p.Lys210Ter) c.*917A>T (n.*917A>T) c.901A>T (p.Lys301Ter) c.922A>T (p.Lys308Ter) c.1129A>T (p.Lys377Ter) c.904A>T (p.Lys302Ter) c.1126A>T (p.Lys376Ter) c.976A>T (p.Lys326Ter) c.769A>T (p.Lys257Ter) c.556A>T (p.Lys186Ter) n.794A>T | |
| X | g.154563572A>C | CA415217382 | IKBKG | c.890A>C (p.Lys297Thr) c.926A>C (p.Lys309Thr) c.524A>C (p.Lys175Thr) c.*307A>C (n.*307A>C) n.2323A>C c.773A>C (p.Lys258Thr) c.983A>C (p.Lys328Thr) n.2326A>C c.629A>C (p.Lys210Thr) c.*918A>C (n.*918A>C) c.902A>C (p.Lys301Thr) c.923A>C (p.Lys308Thr) c.1130A>C (p.Lys377Thr) c.905A>C (p.Lys302Thr) c.1127A>C (p.Lys376Thr) c.977A>C (p.Lys326Thr) c.770A>C (p.Lys257Thr) c.557A>C (p.Lys186Thr) n.795A>C | |
| X | g.154563572A>G | CA415217389 | IKBKG | c.890A>G (p.Lys297Arg) c.926A>G (p.Lys309Arg) c.524A>G (p.Lys175Arg) c.*307A>G (n.*307A>G) n.2323A>G c.773A>G (p.Lys258Arg) c.983A>G (p.Lys328Arg) n.2326A>G c.629A>G (p.Lys210Arg) c.*918A>G (n.*918A>G) c.902A>G (p.Lys301Arg) c.923A>G (p.Lys308Arg) c.1130A>G (p.Lys377Arg) c.905A>G (p.Lys302Arg) c.1127A>G (p.Lys376Arg) c.977A>G (p.Lys326Arg) c.770A>G (p.Lys257Arg) c.557A>G (p.Lys186Arg) n.795A>G | |
| X | g.154563572A>T | CA415217392 | IKBKG | c.890A>T (p.Lys297Met) c.926A>T (p.Lys309Met) c.524A>T (p.Lys175Met) c.*307A>T (n.*307A>T) n.2323A>T c.773A>T (p.Lys258Met) c.983A>T (p.Lys328Met) n.2326A>T c.629A>T (p.Lys210Met) c.*918A>T (n.*918A>T) c.902A>T (p.Lys301Met) c.923A>T (p.Lys308Met) c.1130A>T (p.Lys377Met) c.905A>T (p.Lys302Met) c.1127A>T (p.Lys376Met) c.977A>T (p.Lys326Met) c.770A>T (p.Lys257Met) c.557A>T (p.Lys186Met) n.795A>T | |
| X | g.154563573G>A | CA519286630 | IKBKG | c.891G>A (p.Lys297=) c.927G>A (p.Lys309=) c.525G>A (p.Lys175=) c.*308G>A (n.*308G>A) n.2324G>A c.774G>A (p.Lys258=) c.984G>A (p.Lys328=) n.2327G>A c.630G>A (p.Lys210=) c.*919G>A (n.*919G>A) c.903G>A (p.Lys301=) c.924G>A (p.Lys308=) c.1131G>A (p.Lys377=) c.906G>A (p.Lys302=) c.1128G>A (p.Lys376=) c.978G>A (p.Lys326=) c.771G>A (p.Lys257=) c.558G>A (p.Lys186=) n.796G>A | |
| X | g.154563573G>C | CA415217394 | IKBKG | c.891G>C (p.Lys297Asn) c.927G>C (p.Lys309Asn) c.525G>C (p.Lys175Asn) c.*308G>C (n.*308G>C) n.2324G>C c.774G>C (p.Lys258Asn) c.984G>C (p.Lys328Asn) n.2327G>C c.630G>C (p.Lys210Asn) c.*919G>C (n.*919G>C) c.903G>C (p.Lys301Asn) c.924G>C (p.Lys308Asn) c.1131G>C (p.Lys377Asn) c.906G>C (p.Lys302Asn) c.1128G>C (p.Lys376Asn) c.978G>C (p.Lys326Asn) c.771G>C (p.Lys257Asn) c.558G>C (p.Lys186Asn) n.796G>C | |
| X | g.154563573G>T | CA415217399 | IKBKG | c.891G>T (p.Lys297Asn) c.927G>T (p.Lys309Asn) c.525G>T (p.Lys175Asn) c.*308G>T (n.*308G>T) n.2324G>T c.774G>T (p.Lys258Asn) c.984G>T (p.Lys328Asn) n.2327G>T c.630G>T (p.Lys210Asn) c.*919G>T (n.*919G>T) c.903G>T (p.Lys301Asn) c.924G>T (p.Lys308Asn) c.1131G>T (p.Lys377Asn) c.906G>T (p.Lys302Asn) c.1128G>T (p.Lys376Asn) c.978G>T (p.Lys326Asn) c.771G>T (p.Lys257Asn) c.558G>T (p.Lys186Asn) n.796G>T | |
| X | g.154563574G>A | CA415217403 | IKBKG | c.892G>A (p.Ala298Thr) c.928G>A (p.Ala310Thr) c.526G>A (p.Ala176Thr) c.*309G>A (n.*309G>A) n.2325G>A c.775G>A (p.Ala259Thr) c.985G>A (p.Ala329Thr) n.2328G>A c.631G>A (p.Ala211Thr) c.*920G>A (n.*920G>A) c.904G>A (p.Ala302Thr) c.925G>A (p.Ala309Thr) c.1132G>A (p.Ala378Thr) c.907G>A (p.Ala303Thr) c.1129G>A (p.Ala377Thr) c.979G>A (p.Ala327Thr) c.772G>A (p.Ala258Thr) c.559G>A (p.Ala187Thr) n.797G>A | |
| X | g.154563574G>C | CA415217406 | IKBKG | c.892G>C (p.Ala298Pro) c.928G>C (p.Ala310Pro) c.526G>C (p.Ala176Pro) c.*309G>C (n.*309G>C) n.2325G>C c.775G>C (p.Ala259Pro) c.985G>C (p.Ala329Pro) n.2328G>C c.631G>C (p.Ala211Pro) c.*920G>C (n.*920G>C) c.904G>C (p.Ala302Pro) c.925G>C (p.Ala309Pro) c.1132G>C (p.Ala378Pro) c.907G>C (p.Ala303Pro) c.1129G>C (p.Ala377Pro) c.979G>C (p.Ala327Pro) c.772G>C (p.Ala258Pro) c.559G>C (p.Ala187Pro) n.797G>C | |
| X | g.154563574G>T | CA415217417 | IKBKG | c.892G>T (p.Ala298Ser) c.928G>T (p.Ala310Ser) c.526G>T (p.Ala176Ser) c.*309G>T (n.*309G>T) n.2325G>T c.775G>T (p.Ala259Ser) c.985G>T (p.Ala329Ser) n.2328G>T c.631G>T (p.Ala211Ser) c.*920G>T (n.*920G>T) c.904G>T (p.Ala302Ser) c.925G>T (p.Ala309Ser) c.1132G>T (p.Ala378Ser) c.907G>T (p.Ala303Ser) c.1129G>T (p.Ala377Ser) c.979G>T (p.Ala327Ser) c.772G>T (p.Ala258Ser) c.559G>T (p.Ala187Ser) n.797G>T | |
| X | g.154563575C>A | CA415217433 | IKBKG | c.893C>A (p.Ala298Glu) c.929C>A (p.Ala310Glu) c.527C>A (p.Ala176Glu) c.*310C>A (n.*310C>A) n.2326C>A c.776C>A (p.Ala259Glu) c.986C>A (p.Ala329Glu) n.2329C>A c.632C>A (p.Ala211Glu) c.*921C>A (n.*921C>A) c.905C>A (p.Ala302Glu) c.926C>A (p.Ala309Glu) c.1133C>A (p.Ala378Glu) c.908C>A (p.Ala303Glu) c.1130C>A (p.Ala377Glu) c.980C>A (p.Ala327Glu) c.773C>A (p.Ala258Glu) c.560C>A (p.Ala187Glu) n.798C>A | |
| X | g.154563575C>G | CA415217430 | IKBKG | c.893C>G (p.Ala298Gly) c.929C>G (p.Ala310Gly) c.527C>G (p.Ala176Gly) c.*310C>G (n.*310C>G) n.2326C>G c.776C>G (p.Ala259Gly) c.986C>G (p.Ala329Gly) n.2329C>G c.632C>G (p.Ala211Gly) c.*921C>G (n.*921C>G) c.905C>G (p.Ala302Gly) c.926C>G (p.Ala309Gly) c.1133C>G (p.Ala378Gly) c.908C>G (p.Ala303Gly) c.1130C>G (p.Ala377Gly) c.980C>G (p.Ala327Gly) c.773C>G (p.Ala258Gly) c.560C>G (p.Ala187Gly) n.798C>G | |
| X | g.154563575C>T | CA415217424 | IKBKG | c.893C>T (p.Ala298Val) c.929C>T (p.Ala310Val) c.527C>T (p.Ala176Val) c.*310C>T (n.*310C>T) n.2326C>T c.776C>T (p.Ala259Val) c.986C>T (p.Ala329Val) n.2329C>T c.632C>T (p.Ala211Val) c.*921C>T (n.*921C>T) c.905C>T (p.Ala302Val) c.926C>T (p.Ala309Val) c.1133C>T (p.Ala378Val) c.908C>T (p.Ala303Val) c.1130C>T (p.Ala377Val) c.980C>T (p.Ala327Val) c.773C>T (p.Ala258Val) c.560C>T (p.Ala187Val) n.798C>T | |
| X | g.154563576G>A | CA519286643 | IKBKG | c.894G>A (p.Ala298=) c.930G>A (p.Ala310=) c.528G>A (p.Ala176=) c.*311G>A (n.*311G>A) n.2327G>A c.777G>A (p.Ala259=) c.987G>A (p.Ala329=) n.2330G>A c.633G>A (p.Ala211=) c.*922G>A (n.*922G>A) c.906G>A (p.Ala302=) c.927G>A (p.Ala309=) c.1134G>A (p.Ala378=) c.909G>A (p.Ala303=) c.1131G>A (p.Ala377=) c.981G>A (p.Ala327=) c.774G>A (p.Ala258=) c.561G>A (p.Ala187=) n.799G>A | |
| X | g.154563576G>C | CA519286645 | IKBKG | c.894G>C (p.Ala298=) c.930G>C (p.Ala310=) c.528G>C (p.Ala176=) c.*311G>C (n.*311G>C) n.2327G>C c.777G>C (p.Ala259=) c.987G>C (p.Ala329=) n.2330G>C c.633G>C (p.Ala211=) c.*922G>C (n.*922G>C) c.906G>C (p.Ala302=) c.927G>C (p.Ala309=) c.1134G>C (p.Ala378=) c.909G>C (p.Ala303=) c.1131G>C (p.Ala377=) c.981G>C (p.Ala327=) c.774G>C (p.Ala258=) c.561G>C (p.Ala187=) n.799G>C | |
| X | g.154563576G>T | CA519286647 | IKBKG | c.894G>T (p.Ala298=) c.930G>T (p.Ala310=) c.528G>T (p.Ala176=) c.*311G>T (n.*311G>T) n.2327G>T c.777G>T (p.Ala259=) c.987G>T (p.Ala329=) n.2330G>T c.633G>T (p.Ala211=) c.*922G>T (n.*922G>T) c.906G>T (p.Ala302=) c.927G>T (p.Ala309=) c.1134G>T (p.Ala378=) c.909G>T (p.Ala303=) c.1131G>T (p.Ala377=) c.981G>T (p.Ala327=) c.774G>T (p.Ala258=) c.561G>T (p.Ala187=) n.799G>T | |
| X | g.154563577G>A | CA219237 | IKBKG | c.895G>A (p.Asp299Asn) c.931G>A (p.Asp311Asn) c.529G>A (p.Asp177Asn) c.*312G>A (n.*312G>A) n.2328G>A c.778G>A (p.Asp260Asn) c.988G>A (p.Asp330Asn) n.2331G>A c.634G>A (p.Asp212Asn) c.*923G>A (n.*923G>A) c.907G>A (p.Asp303Asn) c.928G>A (p.Asp310Asn) c.1135G>A (p.Asp379Asn) c.910G>A (p.Asp304Asn) c.1132G>A (p.Asp378Asn) c.982G>A (p.Asp328Asn) c.775G>A (p.Asp259Asn) c.562G>A (p.Asp188Asn) n.800G>A | ClinVar dbSNP |
| X | g.154563577G>C | CA415217444 | IKBKG | c.895G>C (p.Asp299His) c.931G>C (p.Asp311His) c.529G>C (p.Asp177His) c.*312G>C (n.*312G>C) n.2328G>C c.778G>C (p.Asp260His) c.988G>C (p.Asp330His) n.2331G>C c.634G>C (p.Asp212His) c.*923G>C (n.*923G>C) c.907G>C (p.Asp303His) c.928G>C (p.Asp310His) c.1135G>C (p.Asp379His) c.910G>C (p.Asp304His) c.1132G>C (p.Asp378His) c.982G>C (p.Asp328His) c.775G>C (p.Asp259His) c.562G>C (p.Asp188His) n.800G>C | |
| X | g.154563577G= | CA2466733768 | IKBKG | c.895G= (p.Asp299=) c.931G= (p.Asp311=) c.529G= (p.Asp177=) c.*312G= (n.*312G=) n.2328G= c.778G= (p.Asp260=) c.988G= (p.Asp330=) n.2331G= c.634G= (p.Asp212=) c.*923G= (n.*923G=) c.907G= (p.Asp303=) c.928G= (p.Asp310=) c.1135G= (p.Asp379=) c.910G= (p.Asp304=) c.1132G= (p.Asp378=) c.982G= (p.Asp328=) c.775G= (p.Asp259=) c.562G= (p.Asp188=) n.800G= | |
| X | g.154563577G>T | CA415217445 | IKBKG | c.895G>T (p.Asp299Tyr) c.931G>T (p.Asp311Tyr) c.529G>T (p.Asp177Tyr) c.*312G>T (n.*312G>T) n.2328G>T c.778G>T (p.Asp260Tyr) c.988G>T (p.Asp330Tyr) n.2331G>T c.634G>T (p.Asp212Tyr) c.*923G>T (n.*923G>T) c.907G>T (p.Asp303Tyr) c.928G>T (p.Asp310Tyr) c.1135G>T (p.Asp379Tyr) c.910G>T (p.Asp304Tyr) c.1132G>T (p.Asp378Tyr) c.982G>T (p.Asp328Tyr) c.775G>T (p.Asp259Tyr) c.562G>T (p.Asp188Tyr) n.800G>T | |
| X | g.154563578A>C | CA415217447 | IKBKG | c.896A>C (p.Asp299Ala) c.932A>C (p.Asp311Ala) c.530A>C (p.Asp177Ala) c.*313A>C (n.*313A>C) n.2329A>C c.779A>C (p.Asp260Ala) c.989A>C (p.Asp330Ala) n.2332A>C c.635A>C (p.Asp212Ala) c.*924A>C (n.*924A>C) c.908A>C (p.Asp303Ala) c.929A>C (p.Asp310Ala) c.1136A>C (p.Asp379Ala) c.911A>C (p.Asp304Ala) c.1133A>C (p.Asp378Ala) c.983A>C (p.Asp328Ala) c.776A>C (p.Asp259Ala) c.563A>C (p.Asp188Ala) n.801A>C | |
| X | g.154563578A>G | CA415217449 | IKBKG | c.896A>G (p.Asp299Gly) c.932A>G (p.Asp311Gly) c.530A>G (p.Asp177Gly) c.*313A>G (n.*313A>G) n.2329A>G c.779A>G (p.Asp260Gly) c.989A>G (p.Asp330Gly) n.2332A>G c.635A>G (p.Asp212Gly) c.*924A>G (n.*924A>G) c.908A>G (p.Asp303Gly) c.929A>G (p.Asp310Gly) c.1136A>G (p.Asp379Gly) c.911A>G (p.Asp304Gly) c.1133A>G (p.Asp378Gly) c.983A>G (p.Asp328Gly) c.776A>G (p.Asp259Gly) c.563A>G (p.Asp188Gly) n.801A>G | |
| X | g.154563578A>T | CA415217452 | IKBKG | c.896A>T (p.Asp299Val) c.932A>T (p.Asp311Val) c.530A>T (p.Asp177Val) c.*313A>T (n.*313A>T) n.2329A>T c.779A>T (p.Asp260Val) c.989A>T (p.Asp330Val) n.2332A>T c.635A>T (p.Asp212Val) c.*924A>T (n.*924A>T) c.908A>T (p.Asp303Val) c.929A>T (p.Asp310Val) c.1136A>T (p.Asp379Val) c.911A>T (p.Asp304Val) c.1133A>T (p.Asp378Val) c.983A>T (p.Asp328Val) c.776A>T (p.Asp259Val) c.563A>T (p.Asp188Val) n.801A>T | |
| X | g.154563579C>A | CA415217455 | IKBKG | c.897C>A (p.Asp299Glu) c.933C>A (p.Asp311Glu) c.531C>A (p.Asp177Glu) c.*314C>A (n.*314C>A) n.2330C>A c.780C>A (p.Asp260Glu) c.990C>A (p.Asp330Glu) n.2333C>A c.636C>A (p.Asp212Glu) c.*925C>A (n.*925C>A) c.909C>A (p.Asp303Glu) c.930C>A (p.Asp310Glu) c.1137C>A (p.Asp379Glu) c.912C>A (p.Asp304Glu) c.1134C>A (p.Asp378Glu) c.984C>A (p.Asp328Glu) c.777C>A (p.Asp259Glu) c.564C>A (p.Asp188Glu) n.802C>A | |
| X | g.154563579C>G | CA415217456 | IKBKG | c.897C>G (p.Asp299Glu) c.933C>G (p.Asp311Glu) c.531C>G (p.Asp177Glu) c.*314C>G (n.*314C>G) n.2330C>G c.780C>G (p.Asp260Glu) c.990C>G (p.Asp330Glu) n.2333C>G c.636C>G (p.Asp212Glu) c.*925C>G (n.*925C>G) c.909C>G (p.Asp303Glu) c.930C>G (p.Asp310Glu) c.1137C>G (p.Asp379Glu) c.912C>G (p.Asp304Glu) c.1134C>G (p.Asp378Glu) c.984C>G (p.Asp328Glu) c.777C>G (p.Asp259Glu) c.564C>G (p.Asp188Glu) n.802C>G | |
| X | g.154563579C>T | CA519286656 | IKBKG | c.897C>T (p.Asp299=) c.933C>T (p.Asp311=) c.531C>T (p.Asp177=) c.*314C>T (n.*314C>T) n.2330C>T c.780C>T (p.Asp260=) c.990C>T (p.Asp330=) n.2333C>T c.636C>T (p.Asp212=) c.*925C>T (n.*925C>T) c.909C>T (p.Asp303=) c.930C>T (p.Asp310=) c.1137C>T (p.Asp379=) c.912C>T (p.Asp304=) c.1134C>T (p.Asp378=) c.984C>T (p.Asp328=) c.777C>T (p.Asp259=) c.564C>T (p.Asp188=) n.802C>T | |
| X | g.154563580T>A | CA415217459 | IKBKG | c.898T>A (p.Phe300Ile) c.934T>A (p.Phe312Ile) c.532T>A (p.Phe178Ile) c.*315T>A (n.*315T>A) n.2331T>A c.781T>A (p.Phe261Ile) c.991T>A (p.Phe331Ile) n.2334T>A c.637T>A (p.Phe213Ile) c.*926T>A (n.*926T>A) c.910T>A (p.Phe304Ile) c.931T>A (p.Phe311Ile) c.1138T>A (p.Phe380Ile) c.913T>A (p.Phe305Ile) c.1135T>A (p.Phe379Ile) c.985T>A (p.Phe329Ile) c.778T>A (p.Phe260Ile) c.565T>A (p.Phe189Ile) n.803T>A | |
| X | g.154563580T>C | CA415217460 | IKBKG | c.898T>C (p.Phe300Leu) c.934T>C (p.Phe312Leu) c.532T>C (p.Phe178Leu) c.*315T>C (n.*315T>C) n.2331T>C c.781T>C (p.Phe261Leu) c.991T>C (p.Phe331Leu) n.2334T>C c.637T>C (p.Phe213Leu) c.*926T>C (n.*926T>C) c.910T>C (p.Phe304Leu) c.931T>C (p.Phe311Leu) c.1138T>C (p.Phe380Leu) c.913T>C (p.Phe305Leu) c.1135T>C (p.Phe379Leu) c.985T>C (p.Phe329Leu) c.778T>C (p.Phe260Leu) c.565T>C (p.Phe189Leu) n.803T>C | |
| X | g.154563580T>G | CA415217462 | IKBKG | c.898T>G (p.Phe300Val) c.934T>G (p.Phe312Val) c.532T>G (p.Phe178Val) c.*315T>G (n.*315T>G) n.2331T>G c.781T>G (p.Phe261Val) c.991T>G (p.Phe331Val) n.2334T>G c.637T>G (p.Phe213Val) c.*926T>G (n.*926T>G) c.910T>G (p.Phe304Val) c.931T>G (p.Phe311Val) c.1138T>G (p.Phe380Val) c.913T>G (p.Phe305Val) c.1135T>G (p.Phe379Val) c.985T>G (p.Phe329Val) c.778T>G (p.Phe260Val) c.565T>G (p.Phe189Val) n.803T>G | |
| X | g.154563581T>A | CA415217482 | IKBKG | c.899T>A (p.Phe300Tyr) c.935T>A (p.Phe312Tyr) c.533T>A (p.Phe178Tyr) c.*316T>A (n.*316T>A) n.2332T>A c.782T>A (p.Phe261Tyr) c.992T>A (p.Phe331Tyr) n.2335T>A c.638T>A (p.Phe213Tyr) c.*927T>A (n.*927T>A) c.911T>A (p.Phe304Tyr) c.932T>A (p.Phe311Tyr) c.1139T>A (p.Phe380Tyr) c.914T>A (p.Phe305Tyr) c.1136T>A (p.Phe379Tyr) c.986T>A (p.Phe329Tyr) c.779T>A (p.Phe260Tyr) c.566T>A (p.Phe189Tyr) n.804T>A | |
| X | g.154563581T>C | CA415217476 | IKBKG | c.899T>C (p.Phe300Ser) c.935T>C (p.Phe312Ser) c.533T>C (p.Phe178Ser) c.*316T>C (n.*316T>C) n.2332T>C c.782T>C (p.Phe261Ser) c.992T>C (p.Phe331Ser) n.2335T>C c.638T>C (p.Phe213Ser) c.*927T>C (n.*927T>C) c.911T>C (p.Phe304Ser) c.932T>C (p.Phe311Ser) c.1139T>C (p.Phe380Ser) c.914T>C (p.Phe305Ser) c.1136T>C (p.Phe379Ser) c.986T>C (p.Phe329Ser) c.779T>C (p.Phe260Ser) c.566T>C (p.Phe189Ser) n.804T>C | |
| X | g.154563581T>G | CA415217464 | IKBKG | c.899T>G (p.Phe300Cys) c.935T>G (p.Phe312Cys) c.533T>G (p.Phe178Cys) c.*316T>G (n.*316T>G) n.2332T>G c.782T>G (p.Phe261Cys) c.992T>G (p.Phe331Cys) n.2335T>G c.638T>G (p.Phe213Cys) c.*927T>G (n.*927T>G) c.911T>G (p.Phe304Cys) c.932T>G (p.Phe311Cys) c.1139T>G (p.Phe380Cys) c.914T>G (p.Phe305Cys) c.1136T>G (p.Phe379Cys) c.986T>G (p.Phe329Cys) c.779T>G (p.Phe260Cys) c.566T>G (p.Phe189Cys) n.804T>G | |
| X | g.154563582C>A | CA415217485 | IKBKG | c.900C>A (p.Phe300Leu) c.936C>A (p.Phe312Leu) c.534C>A (p.Phe178Leu) c.*317C>A (n.*317C>A) n.2333C>A c.783C>A (p.Phe261Leu) c.993C>A (p.Phe331Leu) n.2336C>A c.639C>A (p.Phe213Leu) c.*928C>A (n.*928C>A) c.912C>A (p.Phe304Leu) c.933C>A (p.Phe311Leu) c.1140C>A (p.Phe380Leu) c.915C>A (p.Phe305Leu) c.1137C>A (p.Phe379Leu) c.987C>A (p.Phe329Leu) c.780C>A (p.Phe260Leu) c.567C>A (p.Phe189Leu) n.805C>A | |
| X | g.154563582C>G | CA415217486 | IKBKG | c.900C>G (p.Phe300Leu) c.936C>G (p.Phe312Leu) c.534C>G (p.Phe178Leu) c.*317C>G (n.*317C>G) n.2333C>G c.783C>G (p.Phe261Leu) c.993C>G (p.Phe331Leu) n.2336C>G c.639C>G (p.Phe213Leu) c.*928C>G (n.*928C>G) c.912C>G (p.Phe304Leu) c.933C>G (p.Phe311Leu) c.1140C>G (p.Phe380Leu) c.915C>G (p.Phe305Leu) c.1137C>G (p.Phe379Leu) c.987C>G (p.Phe329Leu) c.780C>G (p.Phe260Leu) c.567C>G (p.Phe189Leu) n.805C>G | ClinVar dbSNP |
| X | g.154563582C>T | CA519286666 | IKBKG | c.900C>T (p.Phe300=) c.936C>T (p.Phe312=) c.534C>T (p.Phe178=) c.*317C>T (n.*317C>T) n.2333C>T c.783C>T (p.Phe261=) c.993C>T (p.Phe331=) n.2336C>T c.639C>T (p.Phe213=) c.*928C>T (n.*928C>T) c.912C>T (p.Phe304=) c.933C>T (p.Phe311=) c.1140C>T (p.Phe380=) c.915C>T (p.Phe305=) c.1137C>T (p.Phe379=) c.987C>T (p.Phe329=) c.780C>T (p.Phe260=) c.567C>T (p.Phe189=) n.805C>T | |
| X | g.154563583C>A | CA415217488 | IKBKG | c.901C>A (p.Gln301Lys) c.937C>A (p.Gln313Lys) c.535C>A (p.Gln179Lys) c.*318C>A (n.*318C>A) n.2334C>A c.784C>A (p.Gln262Lys) c.994C>A (p.Gln332Lys) n.2337C>A c.640C>A (p.Gln214Lys) c.*929C>A (n.*929C>A) c.913C>A (p.Gln305Lys) c.934C>A (p.Gln312Lys) c.1141C>A (p.Gln381Lys) c.916C>A (p.Gln306Lys) c.1138C>A (p.Gln380Lys) c.988C>A (p.Gln330Lys) c.781C>A (p.Gln261Lys) c.568C>A (p.Gln190Lys) n.806C>A | |
| X | g.154563583C>G | CA415217491 | IKBKG | c.901C>G (p.Gln301Glu) c.937C>G (p.Gln313Glu) c.535C>G (p.Gln179Glu) c.*318C>G (n.*318C>G) n.2334C>G c.784C>G (p.Gln262Glu) c.994C>G (p.Gln332Glu) n.2337C>G c.640C>G (p.Gln214Glu) c.*929C>G (n.*929C>G) c.913C>G (p.Gln305Glu) c.934C>G (p.Gln312Glu) c.1141C>G (p.Gln381Glu) c.916C>G (p.Gln306Glu) c.1138C>G (p.Gln380Glu) c.988C>G (p.Gln330Glu) c.781C>G (p.Gln261Glu) c.568C>G (p.Gln190Glu) n.806C>G | |
| X | g.154563583C>T | CA415217494 | IKBKG | c.901C>T (p.Gln301Ter) c.937C>T (p.Gln313Ter) c.535C>T (p.Gln179Ter) c.*318C>T (n.*318C>T) n.2334C>T c.784C>T (p.Gln262Ter) c.994C>T (p.Gln332Ter) n.2337C>T c.640C>T (p.Gln214Ter) c.*929C>T (n.*929C>T) c.913C>T (p.Gln305Ter) c.934C>T (p.Gln312Ter) c.1141C>T (p.Gln381Ter) c.916C>T (p.Gln306Ter) c.1138C>T (p.Gln380Ter) c.988C>T (p.Gln330Ter) c.781C>T (p.Gln261Ter) c.568C>T (p.Gln190Ter) n.806C>T | |
| X | g.154563584A>C | CA415217496 | IKBKG | c.902A>C (p.Gln301Pro) c.938A>C (p.Gln313Pro) c.536A>C (p.Gln179Pro) c.*319A>C (n.*319A>C) n.2335A>C c.785A>C (p.Gln262Pro) c.995A>C (p.Gln332Pro) n.2338A>C c.641A>C (p.Gln214Pro) c.*930A>C (n.*930A>C) c.914A>C (p.Gln305Pro) c.935A>C (p.Gln312Pro) c.1142A>C (p.Gln381Pro) c.917A>C (p.Gln306Pro) c.1139A>C (p.Gln380Pro) c.989A>C (p.Gln330Pro) c.782A>C (p.Gln261Pro) c.569A>C (p.Gln190Pro) n.807A>C | |
| X | g.154563584A>G | CA415217499 | IKBKG | c.902A>G (p.Gln301Arg) c.938A>G (p.Gln313Arg) c.536A>G (p.Gln179Arg) c.*319A>G (n.*319A>G) n.2335A>G c.785A>G (p.Gln262Arg) c.995A>G (p.Gln332Arg) n.2338A>G c.641A>G (p.Gln214Arg) c.*930A>G (n.*930A>G) c.914A>G (p.Gln305Arg) c.935A>G (p.Gln312Arg) c.1142A>G (p.Gln381Arg) c.917A>G (p.Gln306Arg) c.1139A>G (p.Gln380Arg) c.989A>G (p.Gln330Arg) c.782A>G (p.Gln261Arg) c.569A>G (p.Gln190Arg) n.807A>G | |
| X | g.154563584A>T | CA415217500 | IKBKG | c.902A>T (p.Gln301Leu) c.938A>T (p.Gln313Leu) c.536A>T (p.Gln179Leu) c.*319A>T (n.*319A>T) n.2335A>T c.785A>T (p.Gln262Leu) c.995A>T (p.Gln332Leu) n.2338A>T c.641A>T (p.Gln214Leu) c.*930A>T (n.*930A>T) c.914A>T (p.Gln305Leu) c.935A>T (p.Gln312Leu) c.1142A>T (p.Gln381Leu) c.917A>T (p.Gln306Leu) c.1139A>T (p.Gln380Leu) c.989A>T (p.Gln330Leu) c.782A>T (p.Gln261Leu) c.569A>T (p.Gln190Leu) n.807A>T | |
| X | g.154563585G>A | CA519286679 | IKBKG | c.903G>A (p.Gln301=) c.939G>A (p.Gln313=) c.537G>A (p.Gln179=) c.*320G>A (n.*320G>A) n.2336G>A c.786G>A (p.Gln262=) c.996G>A (p.Gln332=) n.2339G>A c.642G>A (p.Gln214=) c.*931G>A (n.*931G>A) c.915G>A (p.Gln305=) c.936G>A (p.Gln312=) c.1143G>A (p.Gln381=) c.918G>A (p.Gln306=) c.1140G>A (p.Gln380=) c.990G>A (p.Gln330=) c.783G>A (p.Gln261=) c.570G>A (p.Gln190=) n.808G>A | |
| X | g.154563585G>C | CA415217501 | IKBKG | c.903G>C (p.Gln301His) c.939G>C (p.Gln313His) c.537G>C (p.Gln179His) c.*320G>C (n.*320G>C) n.2336G>C c.786G>C (p.Gln262His) c.996G>C (p.Gln332His) n.2339G>C c.642G>C (p.Gln214His) c.*931G>C (n.*931G>C) c.915G>C (p.Gln305His) c.936G>C (p.Gln312His) c.1143G>C (p.Gln381His) c.918G>C (p.Gln306His) c.1140G>C (p.Gln380His) c.990G>C (p.Gln330His) c.783G>C (p.Gln261His) c.570G>C (p.Gln190His) n.808G>C | |
| X | g.154563585G>T | CA415217503 | IKBKG | c.903G>T (p.Gln301His) c.939G>T (p.Gln313His) c.537G>T (p.Gln179His) c.*320G>T (n.*320G>T) n.2336G>T c.786G>T (p.Gln262His) c.996G>T (p.Gln332His) n.2339G>T c.642G>T (p.Gln214His) c.*931G>T (n.*931G>T) c.915G>T (p.Gln305His) c.936G>T (p.Gln312His) c.1143G>T (p.Gln381His) c.918G>T (p.Gln306His) c.1140G>T (p.Gln380His) c.990G>T (p.Gln330His) c.783G>T (p.Gln261His) c.570G>T (p.Gln190His) n.808G>T | |
| X | g.154563586G>A | CA415217506 | IKBKG | c.904G>A (p.Ala302Thr) c.940G>A (p.Ala314Thr) c.538G>A (p.Ala180Thr) c.*321G>A (n.*321G>A) n.2337G>A c.787G>A (p.Ala263Thr) c.997G>A (p.Ala333Thr) n.2340G>A c.643G>A (p.Ala215Thr) c.*932G>A (n.*932G>A) c.916G>A (p.Ala306Thr) c.937G>A (p.Ala313Thr) c.1144G>A (p.Ala382Thr) c.919G>A (p.Ala307Thr) c.1141G>A (p.Ala381Thr) c.991G>A (p.Ala331Thr) c.784G>A (p.Ala262Thr) c.571G>A (p.Ala191Thr) n.809G>A | |
| X | g.154563586G>C | CA415217514 | IKBKG | c.904G>C (p.Ala302Pro) c.940G>C (p.Ala314Pro) c.538G>C (p.Ala180Pro) c.*321G>C (n.*321G>C) n.2337G>C c.787G>C (p.Ala263Pro) c.997G>C (p.Ala333Pro) n.2340G>C c.643G>C (p.Ala215Pro) c.*932G>C (n.*932G>C) c.916G>C (p.Ala306Pro) c.937G>C (p.Ala313Pro) c.1144G>C (p.Ala382Pro) c.919G>C (p.Ala307Pro) c.1141G>C (p.Ala381Pro) c.991G>C (p.Ala331Pro) c.784G>C (p.Ala262Pro) c.571G>C (p.Ala191Pro) n.809G>C | |
| X | g.154563586G>T | CA415217517 | IKBKG | c.904G>T (p.Ala302Ser) c.940G>T (p.Ala314Ser) c.538G>T (p.Ala180Ser) c.*321G>T (n.*321G>T) n.2337G>T c.787G>T (p.Ala263Ser) c.997G>T (p.Ala333Ser) n.2340G>T c.643G>T (p.Ala215Ser) c.*932G>T (n.*932G>T) c.916G>T (p.Ala306Ser) c.937G>T (p.Ala313Ser) c.1144G>T (p.Ala382Ser) c.919G>T (p.Ala307Ser) c.1141G>T (p.Ala381Ser) c.991G>T (p.Ala331Ser) c.784G>T (p.Ala262Ser) c.571G>T (p.Ala191Ser) n.809G>T | |
| X | g.154563587C>A | CA415217526 | IKBKG | c.905C>A (p.Ala302Asp) c.941C>A (p.Ala314Asp) c.539C>A (p.Ala180Asp) c.*322C>A (n.*322C>A) n.2338C>A c.788C>A (p.Ala263Asp) c.998C>A (p.Ala333Asp) n.2341C>A c.644C>A (p.Ala215Asp) c.*933C>A (n.*933C>A) c.917C>A (p.Ala306Asp) c.938C>A (p.Ala313Asp) c.1145C>A (p.Ala382Asp) c.920C>A (p.Ala307Asp) c.1142C>A (p.Ala381Asp) c.992C>A (p.Ala331Asp) c.785C>A (p.Ala262Asp) c.572C>A (p.Ala191Asp) n.810C>A | |
| X | g.154563587C>G | CA415217524 | IKBKG | c.905C>G (p.Ala302Gly) c.941C>G (p.Ala314Gly) c.539C>G (p.Ala180Gly) c.*322C>G (n.*322C>G) n.2338C>G c.788C>G (p.Ala263Gly) c.998C>G (p.Ala333Gly) n.2341C>G c.644C>G (p.Ala215Gly) c.*933C>G (n.*933C>G) c.917C>G (p.Ala306Gly) c.938C>G (p.Ala313Gly) c.1145C>G (p.Ala382Gly) c.920C>G (p.Ala307Gly) c.1142C>G (p.Ala381Gly) c.992C>G (p.Ala331Gly) c.785C>G (p.Ala262Gly) c.572C>G (p.Ala191Gly) n.810C>G | |
| X | g.154563587C>T | CA415217521 | IKBKG | c.905C>T (p.Ala302Val) c.941C>T (p.Ala314Val) c.539C>T (p.Ala180Val) c.*322C>T (n.*322C>T) n.2338C>T c.788C>T (p.Ala263Val) c.998C>T (p.Ala333Val) n.2341C>T c.644C>T (p.Ala215Val) c.*933C>T (n.*933C>T) c.917C>T (p.Ala306Val) c.938C>T (p.Ala313Val) c.1145C>T (p.Ala382Val) c.920C>T (p.Ala307Val) c.1142C>T (p.Ala381Val) c.992C>T (p.Ala331Val) c.785C>T (p.Ala262Val) c.572C>T (p.Ala191Val) n.810C>T | |
| X | g.154563588T>A | CA519286687 | IKBKG | c.906T>A (p.Ala302=) c.942T>A (p.Ala314=) c.540T>A (p.Ala180=) c.*323T>A (n.*323T>A) n.2339T>A c.789T>A (p.Ala263=) c.999T>A (p.Ala333=) n.2342T>A c.645T>A (p.Ala215=) c.*934T>A (n.*934T>A) c.918T>A (p.Ala306=) c.939T>A (p.Ala313=) c.1146T>A (p.Ala382=) c.921T>A (p.Ala307=) c.1143T>A (p.Ala381=) c.993T>A (p.Ala331=) c.786T>A (p.Ala262=) c.573T>A (p.Ala191=) n.811T>A | |
| X | g.154563588T>C | CA519286689 | IKBKG | c.906T>C (p.Ala302=) c.942T>C (p.Ala314=) c.540T>C (p.Ala180=) c.*323T>C (n.*323T>C) n.2339T>C c.789T>C (p.Ala263=) c.999T>C (p.Ala333=) n.2342T>C c.645T>C (p.Ala215=) c.*934T>C (n.*934T>C) c.918T>C (p.Ala306=) c.939T>C (p.Ala313=) c.1146T>C (p.Ala382=) c.921T>C (p.Ala307=) c.1143T>C (p.Ala381=) c.993T>C (p.Ala331=) c.786T>C (p.Ala262=) c.573T>C (p.Ala191=) n.811T>C | |
| X | g.154563588T>G | CA519286691 | IKBKG | c.906T>G (p.Ala302=) c.942T>G (p.Ala314=) c.540T>G (p.Ala180=) c.*323T>G (n.*323T>G) n.2339T>G c.789T>G (p.Ala263=) c.999T>G (p.Ala333=) n.2342T>G c.645T>G (p.Ala215=) c.*934T>G (n.*934T>G) c.918T>G (p.Ala306=) c.939T>G (p.Ala313=) c.1146T>G (p.Ala382=) c.921T>G (p.Ala307=) c.1143T>G (p.Ala381=) c.993T>G (p.Ala331=) c.786T>G (p.Ala262=) c.573T>G (p.Ala191=) n.811T>G | |
| X | g.154563589G>A | CA415217528 | IKBKG | c.907G>A (p.Glu303Lys) c.943G>A (p.Glu315Lys) c.541G>A (p.Glu181Lys) c.*324G>A (n.*324G>A) n.2340G>A c.790G>A (p.Glu264Lys) c.1000G>A (p.Glu334Lys) n.2343G>A c.646G>A (p.Glu216Lys) c.*935G>A (n.*935G>A) c.919G>A (p.Glu307Lys) c.940G>A (p.Glu314Lys) c.1147G>A (p.Glu383Lys) c.922G>A (p.Glu308Lys) c.1144G>A (p.Glu382Lys) c.994G>A (p.Glu332Lys) c.787G>A (p.Glu263Lys) c.574G>A (p.Glu192Lys) n.812G>A | |
| X | g.154563589G>C | CA415217529 | IKBKG | c.907G>C (p.Glu303Gln) c.943G>C (p.Glu315Gln) c.541G>C (p.Glu181Gln) c.*324G>C (n.*324G>C) n.2340G>C c.790G>C (p.Glu264Gln) c.1000G>C (p.Glu334Gln) n.2343G>C c.646G>C (p.Glu216Gln) c.*935G>C (n.*935G>C) c.919G>C (p.Glu307Gln) c.940G>C (p.Glu314Gln) c.1147G>C (p.Glu383Gln) c.922G>C (p.Glu308Gln) c.1144G>C (p.Glu382Gln) c.994G>C (p.Glu332Gln) c.787G>C (p.Glu263Gln) c.574G>C (p.Glu192Gln) n.812G>C | |
| X | g.154563589G>T | CA415217530 | IKBKG | c.907G>T (p.Glu303Ter) c.943G>T (p.Glu315Ter) c.541G>T (p.Glu181Ter) c.*324G>T (n.*324G>T) n.2340G>T c.790G>T (p.Glu264Ter) c.1000G>T (p.Glu334Ter) n.2343G>T c.646G>T (p.Glu216Ter) c.*935G>T (n.*935G>T) c.919G>T (p.Glu307Ter) c.940G>T (p.Glu314Ter) c.1147G>T (p.Glu383Ter) c.922G>T (p.Glu308Ter) c.1144G>T (p.Glu382Ter) c.994G>T (p.Glu332Ter) c.787G>T (p.Glu263Ter) c.574G>T (p.Glu192Ter) n.812G>T | |
| X | g.154563589dup | CA2573119328 | IKBKG | c.907dup (p.Glu303GlyfsTer?) c.943dup (p.Glu315GlyfsTer?) c.541dup (p.Glu181GlyfsTer?) c.*324dup (n.*324dup) n.2340dup c.790dup (p.Glu264GlyfsTer?) c.1000dup (p.Glu334GlyfsTer?) n.2343dup c.646dup (p.Glu216GlyfsTer?) c.*935dup (n.*935dup) c.919dup (p.Glu307GlyfsTer?) c.940dup (p.Glu314GlyfsTer?) c.1147dup (p.Glu383GlyfsTer?) c.922dup (p.Glu308GlyfsTer?) c.1144dup (p.Glu382GlyfsTer?) c.994dup (p.Glu332GlyfsTer?) c.787dup (p.Glu263GlyfsTer?) c.574dup (p.Glu192GlyfsTer?) n.812dup | |
| X | g.154563590A= | CA2466733773 | IKBKG | c.908A= (p.Glu303=) c.944A= (p.Glu315=) c.542A= (p.Glu181=) c.*325A= (n.*325A=) n.2341A= c.791A= (p.Glu264=) c.1001A= (p.Glu334=) n.2344A= c.647A= (p.Glu216=) c.*936A= (n.*936A=) c.920A= (p.Glu307=) c.941A= (p.Glu314=) c.1148A= (p.Glu383=) c.923A= (p.Glu308=) c.1145A= (p.Glu382=) c.995A= (p.Glu332=) c.788A= (p.Glu263=) c.575A= (p.Glu192=) n.813A= | |
| X | g.154563590A>C | CA121491 | IKBKG | c.908A>C (p.Glu303Ala) c.944A>C (p.Glu315Ala) c.542A>C (p.Glu181Ala) c.*325A>C (n.*325A>C) n.2341A>C c.791A>C (p.Glu264Ala) c.1001A>C (p.Glu334Ala) n.2344A>C c.647A>C (p.Glu216Ala) c.*936A>C (n.*936A>C) c.920A>C (p.Glu307Ala) c.941A>C (p.Glu314Ala) c.1148A>C (p.Glu383Ala) c.923A>C (p.Glu308Ala) c.1145A>C (p.Glu382Ala) c.995A>C (p.Glu332Ala) c.788A>C (p.Glu263Ala) c.575A>C (p.Glu192Ala) n.813A>C | ClinVar dbSNP |
| X | g.154563590A>G | CA415217533 | IKBKG | c.908A>G (p.Glu303Gly) c.944A>G (p.Glu315Gly) c.542A>G (p.Glu181Gly) c.*325A>G (n.*325A>G) n.2341A>G c.791A>G (p.Glu264Gly) c.1001A>G (p.Glu334Gly) n.2344A>G c.647A>G (p.Glu216Gly) c.*936A>G (n.*936A>G) c.920A>G (p.Glu307Gly) c.941A>G (p.Glu314Gly) c.1148A>G (p.Glu383Gly) c.923A>G (p.Glu308Gly) c.1145A>G (p.Glu382Gly) c.995A>G (p.Glu332Gly) c.788A>G (p.Glu263Gly) c.575A>G (p.Glu192Gly) n.813A>G | |
| X | g.154563590A>T | CA415217538 | IKBKG | c.908A>T (p.Glu303Val) c.944A>T (p.Glu315Val) c.542A>T (p.Glu181Val) c.*325A>T (n.*325A>T) n.2341A>T c.791A>T (p.Glu264Val) c.1001A>T (p.Glu334Val) n.2344A>T c.647A>T (p.Glu216Val) c.*936A>T (n.*936A>T) c.920A>T (p.Glu307Val) c.941A>T (p.Glu314Val) c.1148A>T (p.Glu383Val) c.923A>T (p.Glu308Val) c.1145A>T (p.Glu382Val) c.995A>T (p.Glu332Val) c.788A>T (p.Glu263Val) c.575A>T (p.Glu192Val) n.813A>T |