| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.113127561_113134033del | CA235502 | ClinVar | ||
| 2 | g.113132609G>T | CA2660765801 | IL1RN | c.217-47G>T (n.217-47G>T) c.*89-47G>T (n.*89-47G>T) n.264-47G>T c.319-47G>T (n.319-47G>T) c.328-47G>T (n.328-47G>T) c.265-47G>T (n.265-47G>T) | gnomAD v4 |
| 2 | g.113132610G= | CA1280073278 | IL1RN | c.217-46G= (n.217-46G=) c.*89-46G= (n.*89-46G=) n.264-46G= c.319-46G= (n.319-46G=) c.328-46G= (n.328-46G=) c.265-46G= (n.265-46G=) | |
| 2 | g.113132610G>T | CA1280073279 | IL1RN | c.217-46G>T (n.217-46G>T) c.*89-46G>T (n.*89-46G>T) n.264-46G>T c.319-46G>T (n.319-46G>T) c.328-46G>T (n.328-46G>T) c.265-46G>T (n.265-46G>T) | dbSNP gnomAD v4 |
| 2 | g.113132611A= | CA1280073280 | IL1RN | c.217-45A= (n.217-45A=) c.*89-45A= (n.*89-45A=) n.264-45A= c.319-45A= (n.319-45A=) c.328-45A= (n.328-45A=) c.265-45A= (n.265-45A=) | |
| 2 | g.113132611A>G | CA1035126662 | IL1RN | c.217-45A>G (n.217-45A>G) c.*89-45A>G (n.*89-45A>G) n.264-45A>G c.319-45A>G (n.319-45A>G) c.328-45A>G (n.328-45A>G) c.265-45A>G (n.265-45A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132612C>A | CA2660765802 | IL1RN | c.217-44C>A (n.217-44C>A) c.*89-44C>A (n.*89-44C>A) n.264-44C>A c.319-44C>A (n.319-44C>A) c.328-44C>A (n.328-44C>A) c.265-44C>A (n.265-44C>A) | gnomAD v4 |
| 2 | g.113132612C>T | CA2751751120 | IL1RN | c.217-44C>T (n.217-44C>T) c.*89-44C>T (n.*89-44C>T) n.264-44C>T c.319-44C>T (n.319-44C>T) c.328-44C>T (n.328-44C>T) c.265-44C>T (n.265-44C>T) | |
| 2 | g.113132613T>C | CA755277453 | IL1RN | c.217-43T>C (n.217-43T>C) c.*89-43T>C (n.*89-43T>C) n.264-43T>C c.319-43T>C (n.319-43T>C) c.328-43T>C (n.328-43T>C) c.265-43T>C (n.265-43T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132613T= | CA1280073281 | IL1RN | c.217-43T= (n.217-43T=) c.*89-43T= (n.*89-43T=) n.264-43T= c.319-43T= (n.319-43T=) c.328-43T= (n.328-43T=) c.265-43T= (n.265-43T=) | |
| 2 | g.113132614T>G | CA2660765803 | IL1RN | c.217-42T>G (n.217-42T>G) c.*89-42T>G (n.*89-42T>G) n.264-42T>G c.319-42T>G (n.319-42T>G) c.328-42T>G (n.328-42T>G) c.265-42T>G (n.265-42T>G) | gnomAD v4 |
| 2 | g.113132616C>G | CA2660765804 | IL1RN | c.217-40C>G (n.217-40C>G) c.*89-40C>G (n.*89-40C>G) n.264-40C>G c.319-40C>G (n.319-40C>G) c.328-40C>G (n.328-40C>G) c.265-40C>G (n.265-40C>G) | gnomAD v4 |
| 2 | g.113132617T>C | CA53697490 | IL1RN | c.217-39T>C (n.217-39T>C) c.*89-39T>C (n.*89-39T>C) n.264-39T>C c.319-39T>C (n.319-39T>C) c.328-39T>C (n.328-39T>C) c.265-39T>C (n.265-39T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132617T= | CA1280073282 | IL1RN | c.217-39T= (n.217-39T=) c.*89-39T= (n.*89-39T=) n.264-39T= c.319-39T= (n.319-39T=) c.328-39T= (n.328-39T=) c.265-39T= (n.265-39T=) | |
| 2 | g.113132619G>T | CA2660765805 | IL1RN | c.217-37G>T (n.217-37G>T) c.*89-37G>T (n.*89-37G>T) n.264-37G>T c.319-37G>T (n.319-37G>T) c.328-37G>T (n.328-37G>T) c.265-37G>T (n.265-37G>T) | gnomAD v4 |
| 2 | g.113132620G>T | CA2660765806 | IL1RN | c.217-36G>T (n.217-36G>T) c.*89-36G>T (n.*89-36G>T) n.264-36G>T c.319-36G>T (n.319-36G>T) c.328-36G>T (n.328-36G>T) c.265-36G>T (n.265-36G>T) | gnomAD v4 |
| 2 | g.113132621C>A | CA2660765807 | IL1RN | c.217-35C>A (n.217-35C>A) c.*89-35C>A (n.*89-35C>A) n.264-35C>A c.319-35C>A (n.319-35C>A) c.328-35C>A (n.328-35C>A) c.265-35C>A (n.265-35C>A) | gnomAD v4 |
| 2 | g.113132622C= | CA1280073283 | IL1RN | c.217-34C= (n.217-34C=) c.*89-34C= (n.*89-34C=) n.264-34C= c.319-34C= (n.319-34C=) c.328-34C= (n.328-34C=) c.265-34C= (n.265-34C=) | |
| 2 | g.113132622C>T | CA535596149 | IL1RN | c.217-34C>T (n.217-34C>T) c.*89-34C>T (n.*89-34C>T) n.264-34C>T c.319-34C>T (n.319-34C>T) c.328-34C>T (n.328-34C>T) c.265-34C>T (n.265-34C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132625A>G | CA2660765808 | IL1RN | c.217-31A>G (n.217-31A>G) c.*89-31A>G (n.*89-31A>G) n.264-31A>G c.319-31A>G (n.319-31A>G) c.328-31A>G (n.328-31A>G) c.265-31A>G (n.265-31A>G) | gnomAD v4 |
| 2 | g.113132626G>A | CA2577074964 | IL1RN | c.217-30G>A (n.217-30G>A) c.*89-30G>A (n.*89-30G>A) n.264-30G>A c.319-30G>A (n.319-30G>A) c.328-30G>A (n.328-30G>A) c.265-30G>A (n.265-30G>A) | |
| 2 | g.113132627C>A | CA2660765809 | IL1RN | c.217-29C>A (n.217-29C>A) c.*89-29C>A (n.*89-29C>A) n.264-29C>A c.319-29C>A (n.319-29C>A) c.328-29C>A (n.328-29C>A) c.265-29C>A (n.265-29C>A) | gnomAD v4 |
| 2 | g.113132627C= | CA1280073284 | IL1RN | c.217-29C= (n.217-29C=) c.*89-29C= (n.*89-29C=) n.264-29C= c.319-29C= (n.319-29C=) c.328-29C= (n.328-29C=) c.265-29C= (n.265-29C=) | |
| 2 | g.113132627C>G | CA755277456 | IL1RN | c.217-29C>G (n.217-29C>G) c.*89-29C>G (n.*89-29C>G) n.264-29C>G c.319-29C>G (n.319-29C>G) c.328-29C>G (n.328-29C>G) c.265-29C>G (n.265-29C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132628T>C | CA1838870 | IL1RN | c.217-28T>C (n.217-28T>C) c.*89-28T>C (n.*89-28T>C) n.264-28T>C c.319-28T>C (n.319-28T>C) c.328-28T>C (n.328-28T>C) c.265-28T>C (n.265-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132628T= | CA1280073285 | IL1RN | c.217-28T= (n.217-28T=) c.*89-28T= (n.*89-28T=) n.264-28T= c.319-28T= (n.319-28T=) c.328-28T= (n.328-28T=) c.265-28T= (n.265-28T=) | |
| 2 | g.113132631C>A | CA2660765810 | IL1RN | c.217-25C>A (n.217-25C>A) c.*89-25C>A (n.*89-25C>A) n.264-25C>A c.319-25C>A (n.319-25C>A) c.328-25C>A (n.328-25C>A) c.265-25C>A (n.265-25C>A) | gnomAD v4 |
| 2 | g.113132631C>T | CA2660765811 | IL1RN | c.217-25C>T (n.217-25C>T) c.*89-25C>T (n.*89-25C>T) n.264-25C>T c.319-25C>T (n.319-25C>T) c.328-25C>T (n.328-25C>T) c.265-25C>T (n.265-25C>T) | gnomAD v4 |
| 2 | g.113132632A= | CA1280073286 | IL1RN | c.217-24A= (n.217-24A=) c.*89-24A= (n.*89-24A=) n.264-24A= c.319-24A= (n.319-24A=) c.328-24A= (n.328-24A=) c.265-24A= (n.265-24A=) | |
| 2 | g.113132632A>G | CA1280073287 | IL1RN | c.217-24A>G (n.217-24A>G) c.*89-24A>G (n.*89-24A>G) n.264-24A>G c.319-24A>G (n.319-24A>G) c.328-24A>G (n.328-24A>G) c.265-24A>G (n.265-24A>G) | dbSNP |
| 2 | g.113132633C>A | CA2660765812 | IL1RN | c.217-23C>A (n.217-23C>A) c.*89-23C>A (n.*89-23C>A) n.264-23C>A c.319-23C>A (n.319-23C>A) c.328-23C>A (n.328-23C>A) c.265-23C>A (n.265-23C>A) | gnomAD v4 |
| 2 | g.113132634C>A | CA2751751121 | IL1RN | c.217-22C>A (n.217-22C>A) c.*89-22C>A (n.*89-22C>A) n.264-22C>A c.319-22C>A (n.319-22C>A) c.328-22C>A (n.328-22C>A) c.265-22C>A (n.265-22C>A) | |
| 2 | g.113132635T>C | CA535596150 | IL1RN | c.217-21T>C (n.217-21T>C) c.*89-21T>C (n.*89-21T>C) n.264-21T>C c.319-21T>C (n.319-21T>C) c.328-21T>C (n.328-21T>C) c.265-21T>C (n.265-21T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132635T= | CA1280073288 | IL1RN | c.217-21T= (n.217-21T=) c.*89-21T= (n.*89-21T=) n.264-21T= c.319-21T= (n.319-21T=) c.328-21T= (n.328-21T=) c.265-21T= (n.265-21T=) | |
| 2 | g.113132636G>A | CA535596152 | IL1RN | c.217-20G>A (n.217-20G>A) c.*89-20G>A (n.*89-20G>A) n.264-20G>A c.319-20G>A (n.319-20G>A) c.328-20G>A (n.328-20G>A) c.265-20G>A (n.265-20G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132636G>C | CA535596155 | IL1RN | c.217-20G>C (n.217-20G>C) c.*89-20G>C (n.*89-20G>C) n.264-20G>C c.319-20G>C (n.319-20G>C) c.328-20G>C (n.328-20G>C) c.265-20G>C (n.265-20G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132636G= | CA1280073289 | IL1RN | c.217-20G= (n.217-20G=) c.*89-20G= (n.*89-20G=) n.264-20G= c.319-20G= (n.319-20G=) c.328-20G= (n.328-20G=) c.265-20G= (n.265-20G=) | |
| 2 | g.113132636G>T | CA1838871 | IL1RN | c.217-20G>T (n.217-20G>T) c.*89-20G>T (n.*89-20G>T) n.264-20G>T c.319-20G>T (n.319-20G>T) c.328-20G>T (n.328-20G>T) c.265-20G>T (n.265-20G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132637C>A | CA2660765813 | IL1RN | c.217-19C>A (n.217-19C>A) c.*89-19C>A (n.*89-19C>A) n.264-19C>A c.319-19C>A (n.319-19C>A) c.328-19C>A (n.328-19C>A) c.265-19C>A (n.265-19C>A) | gnomAD v4 |
| 2 | g.113132637C>T | CA2577074965 | IL1RN | c.217-19C>T (n.217-19C>T) c.*89-19C>T (n.*89-19C>T) n.264-19C>T c.319-19C>T (n.319-19C>T) c.328-19C>T (n.328-19C>T) c.265-19C>T (n.265-19C>T) | gnomAD v4 |
| 2 | g.113132639C>A | CA2660765814 | IL1RN | c.217-17C>A (n.217-17C>A) c.*89-17C>A (n.*89-17C>A) n.264-17C>A c.319-17C>A (n.319-17C>A) c.328-17C>A (n.328-17C>A) c.265-17C>A (n.265-17C>A) | gnomAD v4 |
| 2 | g.113132639C= | CA1280073290 | IL1RN | c.217-17C= (n.217-17C=) c.*89-17C= (n.*89-17C=) n.264-17C= c.319-17C= (n.319-17C=) c.328-17C= (n.328-17C=) c.265-17C= (n.265-17C=) | |
| 2 | g.113132639C>T | CA1838872 | IL1RN | c.217-17C>T (n.217-17C>T) c.*89-17C>T (n.*89-17C>T) n.264-17C>T c.319-17C>T (n.319-17C>T) c.328-17C>T (n.328-17C>T) c.265-17C>T (n.265-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132640_113132644del | CA2573133166 | IL1RN | c.217-16_217-12del (n.217-16_217-12del) c.*89-16_*89-12del (n.*89-16_*89-12del) n.264-16_264-12del c.319-16_319-12del (n.319-16_319-12del) c.328-16_328-12del (n.328-16_328-12del) c.265-16_265-12del (n.265-16_265-12del) | ClinVar dbSNP |
| 2 | g.113132642C>A | CA2660765815 | IL1RN | c.217-14C>A (n.217-14C>A) c.*89-14C>A (n.*89-14C>A) n.264-14C>A c.319-14C>A (n.319-14C>A) c.328-14C>A (n.328-14C>A) c.265-14C>A (n.265-14C>A) | gnomAD v4 |
| 2 | g.113132644T>C | CA1280073292 | IL1RN | c.217-12T>C (n.217-12T>C) c.*89-12T>C (n.*89-12T>C) n.264-12T>C c.319-12T>C (n.319-12T>C) c.328-12T>C (n.328-12T>C) c.265-12T>C (n.265-12T>C) | ClinVar dbSNP |
| 2 | g.113132644T= | CA1280073291 | IL1RN | c.217-12T= (n.217-12T=) c.*89-12T= (n.*89-12T=) n.264-12T= c.319-12T= (n.319-12T=) c.328-12T= (n.328-12T=) c.265-12T= (n.265-12T=) | |
| 2 | g.113132647G>A | CA1280073294 | IL1RN | c.217-9G>A (n.217-9G>A) c.*89-9G>A (n.*89-9G>A) n.264-9G>A c.319-9G>A (n.319-9G>A) c.328-9G>A (n.328-9G>A) c.265-9G>A (n.265-9G>A) | dbSNP |
| 2 | g.113132647G= | CA1280073293 | IL1RN | c.217-9G= (n.217-9G=) c.*89-9G= (n.*89-9G=) n.264-9G= c.319-9G= (n.319-9G=) c.328-9G= (n.328-9G=) c.265-9G= (n.265-9G=) | |
| 2 | g.113132649T>C | CA2660765816 | IL1RN | c.217-7T>C (n.217-7T>C) c.*89-7T>C (n.*89-7T>C) n.264-7T>C c.319-7T>C (n.319-7T>C) c.328-7T>C (n.328-7T>C) c.265-7T>C (n.265-7T>C) | gnomAD v4 |
| 2 | g.113132651T>C | CA2660765817 | IL1RN | c.217-5T>C (n.217-5T>C) c.*89-5T>C (n.*89-5T>C) n.264-5T>C c.319-5T>C (n.319-5T>C) c.328-5T>C (n.328-5T>C) c.265-5T>C (n.265-5T>C) | gnomAD v4 |
| 2 | g.113132653C>T | CA2660765818 | IL1RN | c.217-3C>T (n.217-3C>T) c.*89-3C>T (n.*89-3C>T) n.264-3C>T c.319-3C>T (n.319-3C>T) c.328-3C>T (n.328-3C>T) c.265-3C>T (n.265-3C>T) | gnomAD v4 |
| 2 | g.113132654A>C | CA348295727 | IL1RN | c.217-2A>C (n.217-2A>C) c.*89-2A>C (n.*89-2A>C) n.264-2A>C c.319-2A>C (n.319-2A>C) c.328-2A>C (n.328-2A>C) c.265-2A>C (n.265-2A>C) | |
| 2 | g.113132654A>G | CA348295729 | IL1RN | c.217-2A>G (n.217-2A>G) c.*89-2A>G (n.*89-2A>G) n.264-2A>G c.319-2A>G (n.319-2A>G) c.328-2A>G (n.328-2A>G) c.265-2A>G (n.265-2A>G) | gnomAD v4 |
| 2 | g.113132654A>T | CA348295731 | IL1RN | c.217-2A>T (n.217-2A>T) c.*89-2A>T (n.*89-2A>T) n.264-2A>T c.319-2A>T (n.319-2A>T) c.328-2A>T (n.328-2A>T) c.265-2A>T (n.265-2A>T) | |
| 2 | g.113132655G>A | CA348295732 | IL1RN | c.217-1G>A (n.217-1G>A) c.*89-1G>A (n.*89-1G>A) n.264-1G>A c.319-1G>A (n.319-1G>A) c.328-1G>A (n.328-1G>A) c.265-1G>A (n.265-1G>A) | |
| 2 | g.113132655G>C | CA348295733 | IL1RN | c.217-1G>C (n.217-1G>C) c.*89-1G>C (n.*89-1G>C) n.264-1G>C c.319-1G>C (n.319-1G>C) c.328-1G>C (n.328-1G>C) c.265-1G>C (n.265-1G>C) | |
| 2 | g.113132655G>T | CA348295736 | IL1RN | c.217-1G>T (n.217-1G>T) c.*89-1G>T (n.*89-1G>T) n.264-1G>T c.319-1G>T (n.319-1G>T) c.328-1G>T (n.328-1G>T) c.265-1G>T (n.265-1G>T) | |
| 2 | g.113132656G>A | CA348295738 | IL1RN | c.217G>A (p.Ala73Thr) c.*89G>A (n.*89G>A) n.264G>A c.319G>A (p.Ala107Thr) c.328G>A (p.Ala110Thr) c.265G>A (p.Ala89Thr) | gnomAD v4 |
| 2 | g.113132656G>C | CA348295740 | IL1RN | c.217G>C (p.Ala73Pro) c.*89G>C (n.*89G>C) n.264G>C c.319G>C (p.Ala107Pro) c.328G>C (p.Ala110Pro) c.265G>C (p.Ala89Pro) | |
| 2 | g.113132656G>T | CA348295742 | IL1RN | c.217G>T (p.Ala73Ser) c.*89G>T (n.*89G>T) n.264G>T c.319G>T (p.Ala107Ser) c.328G>T (p.Ala110Ser) c.265G>T (p.Ala89Ser) | |
| 2 | g.113132657C>A | CA348295744 | IL1RN | c.218C>A (p.Ala73Glu) c.*90C>A (n.*90C>A) n.265C>A c.320C>A (p.Ala107Glu) c.329C>A (p.Ala110Glu) c.266C>A (p.Ala89Glu) | |
| 2 | g.113132657C>G | CA348295746 | IL1RN | c.218C>G (p.Ala73Gly) c.*90C>G (n.*90C>G) n.265C>G c.320C>G (p.Ala107Gly) c.329C>G (p.Ala110Gly) c.266C>G (p.Ala89Gly) | gnomAD v4 |
| 2 | g.113132657C>T | CA348295748 | IL1RN | c.218C>T (p.Ala73Val) c.*90C>T (n.*90C>T) n.265C>T c.320C>T (p.Ala107Val) c.329C>T (p.Ala110Val) c.266C>T (p.Ala89Val) | gnomAD v4 |
| 2 | g.113132658A>C | CA428554061 | IL1RN | c.219A>C (p.Ala73=) c.*91A>C (n.*91A>C) n.266A>C c.321A>C (p.Ala107=) c.330A>C (p.Ala110=) c.267A>C (p.Ala89=) | |
| 2 | g.113132658A>G | CA428554063 | IL1RN | c.219A>G (p.Ala73=) c.*91A>G (n.*91A>G) n.266A>G c.321A>G (p.Ala107=) c.330A>G (p.Ala110=) c.267A>G (p.Ala89=) | gnomAD v4 |
| 2 | g.113132658A>T | CA428554062 | IL1RN | c.219A>T (p.Ala73=) c.*91A>T (n.*91A>T) n.266A>T c.321A>T (p.Ala107=) c.330A>T (p.Ala110=) c.267A>T (p.Ala89=) | |
| 2 | g.113132659G>A | CA348295754 | IL1RN | c.220G>A (p.Val74Ile) c.*92G>A (n.*92G>A) n.267G>A c.322G>A (p.Val108Ile) c.331G>A (p.Val111Ile) c.268G>A (p.Val90Ile) | |
| 2 | g.113132659G>C | CA348295752 | IL1RN | c.220G>C (p.Val74Leu) c.*92G>C (n.*92G>C) n.267G>C c.322G>C (p.Val108Leu) c.331G>C (p.Val111Leu) c.268G>C (p.Val90Leu) | gnomAD v4 |
| 2 | g.113132659G>T | CA348295750 | IL1RN | c.220G>T (p.Val74Phe) c.*92G>T (n.*92G>T) n.267G>T c.322G>T (p.Val108Phe) c.331G>T (p.Val111Phe) c.268G>T (p.Val90Phe) | |
| 2 | g.113132660T>A | CA1838873 | IL1RN | c.221T>A (p.Val74Asp) c.*93T>A (n.*93T>A) n.268T>A c.323T>A (p.Val108Asp) c.332T>A (p.Val111Asp) c.269T>A (p.Val90Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132660T>C | CA348295757 | IL1RN | c.221T>C (p.Val74Ala) c.*93T>C (n.*93T>C) n.268T>C c.323T>C (p.Val108Ala) c.332T>C (p.Val111Ala) c.269T>C (p.Val90Ala) | |
| 2 | g.113132660T>G | CA348295759 | IL1RN | c.221T>G (p.Val74Gly) c.*93T>G (n.*93T>G) n.268T>G c.323T>G (p.Val108Gly) c.332T>G (p.Val111Gly) c.269T>G (p.Val90Gly) | |
| 2 | g.113132660T= | CA1280073295 | IL1RN | c.221T= (p.Val74=) c.*93T= (n.*93T=) n.268T= c.323T= (p.Val108=) c.332T= (p.Val111=) c.269T= (p.Val90=) | |
| 2 | g.113132661T>A | CA428554070 | IL1RN | c.222T>A (p.Val74=) c.*94T>A (n.*94T>A) n.269T>A c.324T>A (p.Val108=) c.333T>A (p.Val111=) c.270T>A (p.Val90=) | |
| 2 | g.113132661T>C | CA428554071 | IL1RN | c.222T>C (p.Val74=) c.*94T>C (n.*94T>C) n.269T>C c.324T>C (p.Val108=) c.333T>C (p.Val111=) c.270T>C (p.Val90=) | COSMIC COSMIC COSMIC |
| 2 | g.113132661T>G | CA428554072 | IL1RN | c.222T>G (p.Val74=) c.*94T>G (n.*94T>G) n.269T>G c.324T>G (p.Val108=) c.333T>G (p.Val111=) c.270T>G (p.Val90=) | |
| 2 | g.113132662A>C | CA348295761 | IL1RN | c.223A>C (p.Asn75His) c.*95A>C (n.*95A>C) n.270A>C c.325A>C (p.Asn109His) c.334A>C (p.Asn112His) c.271A>C (p.Asn91His) | |
| 2 | g.113132662A>G | CA348295763 | IL1RN | c.223A>G (p.Asn75Asp) c.*95A>G (n.*95A>G) n.270A>G c.325A>G (p.Asn109Asp) c.334A>G (p.Asn112Asp) c.271A>G (p.Asn91Asp) | |
| 2 | g.113132662A>T | CA348295764 | IL1RN | c.223A>T (p.Asn75Tyr) c.*95A>T (n.*95A>T) n.270A>T c.325A>T (p.Asn109Tyr) c.334A>T (p.Asn112Tyr) c.271A>T (p.Asn91Tyr) | |
| 2 | g.113132663A= | CA1280073296 | IL1RN | c.224A= (p.Asn75=) c.*96A= (n.*96A=) n.271A= c.326A= (p.Asn109=) c.335A= (p.Asn112=) c.272A= (p.Asn91=) | |
| 2 | g.113132663A>C | CA348295769 | IL1RN | c.224A>C (p.Asn75Thr) c.*96A>C (n.*96A>C) n.271A>C c.326A>C (p.Asn109Thr) c.335A>C (p.Asn112Thr) c.272A>C (p.Asn91Thr) | |
| 2 | g.113132663A>G | CA1838874 | IL1RN | c.224A>G (p.Asn75Ser) c.*96A>G (n.*96A>G) n.271A>G c.326A>G (p.Asn109Ser) c.335A>G (p.Asn112Ser) c.272A>G (p.Asn91Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132663A>T | CA348295768 | IL1RN | c.224A>T (p.Asn75Ile) c.*96A>T (n.*96A>T) n.271A>T c.326A>T (p.Asn109Ile) c.335A>T (p.Asn112Ile) c.272A>T (p.Asn91Ile) | |
| 2 | g.113132664C>A | CA348295772 | IL1RN | c.225C>A (p.Asn75Lys) c.*97C>A (n.*97C>A) n.272C>A c.327C>A (p.Asn109Lys) c.336C>A (p.Asn112Lys) c.273C>A (p.Asn91Lys) | |
| 2 | g.113132664C>G | CA348295774 | IL1RN | c.225C>G (p.Asn75Lys) c.*97C>G (n.*97C>G) n.272C>G c.327C>G (p.Asn109Lys) c.336C>G (p.Asn112Lys) c.273C>G (p.Asn91Lys) | |
| 2 | g.113132664C>T | CA428554075 | IL1RN | c.225C>T (p.Asn75=) c.*97C>T (n.*97C>T) n.272C>T c.327C>T (p.Asn109=) c.336C>T (p.Asn112=) c.273C>T (p.Asn91=) | |
| 2 | g.113132665A= | CA1280073297 | IL1RN | c.226A= (p.Ile76=) c.*98A= (n.*98A=) n.273A= c.328A= (p.Ile110=) c.337A= (p.Ile113=) c.274A= (p.Ile92=) | |
| 2 | g.113132665A>C | CA1838875 | IL1RN | c.226A>C (p.Ile76Leu) c.*98A>C (n.*98A>C) n.273A>C c.328A>C (p.Ile110Leu) c.337A>C (p.Ile113Leu) c.274A>C (p.Ile92Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132665A>G | CA348295776 | IL1RN | c.226A>G (p.Ile76Val) c.*98A>G (n.*98A>G) n.273A>G c.328A>G (p.Ile110Val) c.337A>G (p.Ile113Val) c.274A>G (p.Ile92Val) | |
| 2 | g.113132665A>T | CA348295778 | IL1RN | c.226A>T (p.Ile76Phe) c.*98A>T (n.*98A>T) n.273A>T c.328A>T (p.Ile110Phe) c.337A>T (p.Ile113Phe) c.274A>T (p.Ile92Phe) | |
| 2 | g.113132666T>A | CA348295784 | IL1RN | c.227T>A (p.Ile76Asn) c.*99T>A (n.*99T>A) n.274T>A c.329T>A (p.Ile110Asn) c.338T>A (p.Ile113Asn) c.275T>A (p.Ile92Asn) | gnomAD v4 |
| 2 | g.113132666T>C | CA348295780 | IL1RN | c.227T>C (p.Ile76Thr) c.*99T>C (n.*99T>C) n.274T>C c.329T>C (p.Ile110Thr) c.338T>C (p.Ile113Thr) c.275T>C (p.Ile92Thr) | |
| 2 | g.113132666T>G | CA348295782 | IL1RN | c.227T>G (p.Ile76Ser) c.*99T>G (n.*99T>G) n.274T>G c.329T>G (p.Ile110Ser) c.338T>G (p.Ile113Ser) c.275T>G (p.Ile92Ser) | |
| 2 | g.113132667C>A | CA428554078 | IL1RN | c.228C>A (p.Ile76=) c.*100C>A (n.*100C>A) n.275C>A c.330C>A (p.Ile110=) c.339C>A (p.Ile113=) c.276C>A (p.Ile92=) | |
| 2 | g.113132667C= | CA1280073298 | IL1RN | c.228C= (p.Ile76=) c.*100C= (n.*100C=) n.275C= c.330C= (p.Ile110=) c.339C= (p.Ile113=) c.276C= (p.Ile92=) | |
| 2 | g.113132667C>G | CA1838876 | IL1RN | c.228C>G (p.Ile76Met) c.*100C>G (n.*100C>G) n.275C>G c.330C>G (p.Ile110Met) c.339C>G (p.Ile113Met) c.276C>G (p.Ile92Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132667C>T | CA428554080 | IL1RN | c.228C>T (p.Ile76=) c.*100C>T (n.*100C>T) n.275C>T c.330C>T (p.Ile110=) c.339C>T (p.Ile113=) c.276C>T (p.Ile92=) | |
| 2 | g.113132668A>C | CA348295787 | IL1RN | c.229A>C (p.Thr77Pro) c.*101A>C (n.*101A>C) n.276A>C c.331A>C (p.Thr111Pro) c.340A>C (p.Thr114Pro) c.277A>C (p.Thr93Pro) | |
| 2 | g.113132668A>G | CA348295789 | IL1RN | c.229A>G (p.Thr77Ala) c.*101A>G (n.*101A>G) n.276A>G c.331A>G (p.Thr111Ala) c.340A>G (p.Thr114Ala) c.277A>G (p.Thr93Ala) | |
| 2 | g.113132668A>T | CA348295790 | IL1RN | c.229A>T (p.Thr77Ser) c.*101A>T (n.*101A>T) n.276A>T c.331A>T (p.Thr111Ser) c.340A>T (p.Thr114Ser) c.277A>T (p.Thr93Ser) | |
| 2 | g.113132668dup | CA1280073299 | IL1RN | c.229dup (p.Thr77AsnfsTer2) c.*101dup (n.*101dup) n.276dup c.331dup (p.Thr111AsnfsTer2) c.340dup (p.Thr114AsnfsTer2) c.277dup (p.Thr93AsnfsTer2) | ClinVar dbSNP gnomAD v4 |
| 2 | g.113132669C>A | CA348295791 | IL1RN | c.230C>A (p.Thr77Asn) c.*102C>A (n.*102C>A) n.277C>A c.332C>A (p.Thr111Asn) c.341C>A (p.Thr114Asn) c.278C>A (p.Thr93Asn) | |
| 2 | g.113132669C= | CA1280073300 | IL1RN | c.230C= (p.Thr77=) c.*102C= (n.*102C=) n.277C= c.332C= (p.Thr111=) c.341C= (p.Thr114=) c.278C= (p.Thr93=) | |
| 2 | g.113132669C>G | CA348295793 | IL1RN | c.230C>G (p.Thr77Ser) c.*102C>G (n.*102C>G) n.277C>G c.332C>G (p.Thr111Ser) c.341C>G (p.Thr114Ser) c.278C>G (p.Thr93Ser) | gnomAD v4 |
| 2 | g.113132669C>T | CA348295795 | IL1RN | c.230C>T (p.Thr77Ile) c.*102C>T (n.*102C>T) n.277C>T c.332C>T (p.Thr111Ile) c.341C>T (p.Thr114Ile) c.278C>T (p.Thr93Ile) | dbSNP |
| 2 | g.113132670T>A | CA428554084 | IL1RN | c.231T>A (p.Thr77=) c.*103T>A (n.*103T>A) n.278T>A c.333T>A (p.Thr111=) c.342T>A (p.Thr114=) c.279T>A (p.Thr93=) | |
| 2 | g.113132670T>C | CA428554085 | IL1RN | c.231T>C (p.Thr77=) c.*103T>C (n.*103T>C) n.278T>C c.333T>C (p.Thr111=) c.342T>C (p.Thr114=) c.279T>C (p.Thr93=) | |
| 2 | g.113132670T>G | CA428554086 | IL1RN | c.231T>G (p.Thr77=) c.*103T>G (n.*103T>G) n.278T>G c.333T>G (p.Thr111=) c.342T>G (p.Thr114=) c.279T>G (p.Thr93=) | |
| 2 | g.113132671G>A | CA348295796 | IL1RN | c.232G>A (p.Asp78Asn) c.*104G>A (n.*104G>A) n.279G>A c.334G>A (p.Asp112Asn) c.343G>A (p.Asp115Asn) c.280G>A (p.Asp94Asn) | gnomAD v4 |
| 2 | g.113132671G>C | CA348295797 | IL1RN | c.232G>C (p.Asp78His) c.*104G>C (n.*104G>C) n.279G>C c.334G>C (p.Asp112His) c.343G>C (p.Asp115His) c.280G>C (p.Asp94His) | |
| 2 | g.113132671G>T | CA348295799 | IL1RN | c.232G>T (p.Asp78Tyr) c.*104G>T (n.*104G>T) n.279G>T c.334G>T (p.Asp112Tyr) c.343G>T (p.Asp115Tyr) c.280G>T (p.Asp94Tyr) | gnomAD v4 |
| 2 | g.113132672A>C | CA348295800 | IL1RN | c.233A>C (p.Asp78Ala) c.*105A>C (n.*105A>C) n.280A>C c.335A>C (p.Asp112Ala) c.344A>C (p.Asp115Ala) c.281A>C (p.Asp94Ala) | |
| 2 | g.113132672A>G | CA348295802 | IL1RN | c.233A>G (p.Asp78Gly) c.*105A>G (n.*105A>G) n.280A>G c.335A>G (p.Asp112Gly) c.344A>G (p.Asp115Gly) c.281A>G (p.Asp94Gly) | |
| 2 | g.113132672A>T | CA348295803 | IL1RN | c.233A>T (p.Asp78Val) c.*105A>T (n.*105A>T) n.280A>T c.335A>T (p.Asp112Val) c.344A>T (p.Asp115Val) c.281A>T (p.Asp94Val) | |
| 2 | g.113132673C>A | CA53697569 | IL1RN | c.234C>A (p.Asp78Glu) c.*106C>A (n.*106C>A) n.281C>A c.336C>A (p.Asp112Glu) c.345C>A (p.Asp115Glu) c.282C>A (p.Asp94Glu) | dbSNP gnomAD v4 |
| 2 | g.113132673C= | CA1280073301 | IL1RN | c.234C= (p.Asp78=) c.*106C= (n.*106C=) n.281C= c.336C= (p.Asp112=) c.345C= (p.Asp115=) c.282C= (p.Asp94=) | |
| 2 | g.113132673C>G | CA348295807 | IL1RN | c.234C>G (p.Asp78Glu) c.*106C>G (n.*106C>G) n.281C>G c.336C>G (p.Asp112Glu) c.345C>G (p.Asp115Glu) c.282C>G (p.Asp94Glu) | |
| 2 | g.113132673C>T | CA1838877 | IL1RN | c.234C>T (p.Asp78=) c.*106C>T (n.*106C>T) n.281C>T c.336C>T (p.Asp112=) c.345C>T (p.Asp115=) c.282C>T (p.Asp94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132674C>A | CA348295809 | IL1RN | c.235C>A (p.Leu79Met) c.*107C>A (n.*107C>A) n.282C>A c.337C>A (p.Leu113Met) c.346C>A (p.Leu116Met) c.283C>A (p.Leu95Met) | |
| 2 | g.113132674C>G | CA348295811 | IL1RN | c.235C>G (p.Leu79Val) c.*107C>G (n.*107C>G) n.282C>G c.337C>G (p.Leu113Val) c.346C>G (p.Leu116Val) c.283C>G (p.Leu95Val) | |
| 2 | g.113132674C>T | CA428554090 | IL1RN | c.235C>T (p.Leu79=) c.*107C>T (n.*107C>T) n.282C>T c.337C>T (p.Leu113=) c.346C>T (p.Leu116=) c.283C>T (p.Leu95=) | ClinVar |
| 2 | g.113132675T>A | CA348295813 | IL1RN | c.236T>A (p.Leu79Gln) c.*108T>A (n.*108T>A) n.283T>A c.338T>A (p.Leu113Gln) c.347T>A (p.Leu116Gln) c.284T>A (p.Leu95Gln) | |
| 2 | g.113132675T>C | CA348295815 | IL1RN | c.236T>C (p.Leu79Pro) c.*108T>C (n.*108T>C) n.283T>C c.338T>C (p.Leu113Pro) c.347T>C (p.Leu116Pro) c.284T>C (p.Leu95Pro) | |
| 2 | g.113132675T>G | CA348295817 | IL1RN | c.236T>G (p.Leu79Arg) c.*108T>G (n.*108T>G) n.283T>G c.338T>G (p.Leu113Arg) c.347T>G (p.Leu116Arg) c.284T>G (p.Leu95Arg) | |
| 2 | g.113132675_113132679delinsTGAGC | CA1280073302 | IL1RN | c.236_240delinsTGAGC (p.Leu79=) c.*108_*112delinsTGAGC (n.*108_*112delinsTGAGC) n.283_287delinsTGAGC c.338_342delinsTGAGC (p.Leu113=) c.347_351delinsTGAGC (p.Leu116=) c.284_288delinsTGAGC (p.Leu95=) | |
| 2 | g.113132676G>A | CA428554400 | IL1RN | c.237G>A (p.Leu79=) c.*109G>A (n.*109G>A) n.284G>A c.339G>A (p.Leu113=) c.348G>A (p.Leu116=) c.285G>A (p.Leu95=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.113132676G>C | CA428554401 | IL1RN | c.237G>C (p.Leu79=) c.*109G>C (n.*109G>C) n.284G>C c.339G>C (p.Leu113=) c.348G>C (p.Leu116=) c.285G>C (p.Leu95=) | gnomAD v4 |
| 2 | g.113132676G= | CA1280073303 | IL1RN | c.237G= (p.Leu79=) c.*109G= (n.*109G=) n.284G= c.339G= (p.Leu113=) c.348G= (p.Leu116=) c.285G= (p.Leu95=) | |
| 2 | g.113132676G>T | CA428554402 | IL1RN | c.237G>T (p.Leu79=) c.*109G>T (n.*109G>T) n.284G>T c.339G>T (p.Leu113=) c.348G>T (p.Leu116=) c.285G>T (p.Leu95=) | |
| 2 | g.113132679_113132682del | CA53697577 | IL1RN | c.240_243del (p.Ser80ArgfsTer?) c.*112_*115del (n.*112_*115del) n.287_290del c.342_345del (p.Ser114ArgfsTer?) c.351_354del (p.Ser117ArgfsTer?) c.288_291del (p.Ser96ArgfsTer?) | dbSNP |
| 2 | g.113132677A>C | CA348295821 | IL1RN | c.238A>C (p.Ser80Arg) c.*110A>C (n.*110A>C) n.285A>C c.340A>C (p.Ser114Arg) c.349A>C (p.Ser117Arg) c.286A>C (p.Ser96Arg) | |
| 2 | g.113132677A>G | CA348295819 | IL1RN | c.238A>G (p.Ser80Gly) c.*110A>G (n.*110A>G) n.285A>G c.340A>G (p.Ser114Gly) c.349A>G (p.Ser117Gly) c.286A>G (p.Ser96Gly) | |
| 2 | g.113132677A>T | CA348295818 | IL1RN | c.238A>T (p.Ser80Cys) c.*110A>T (n.*110A>T) n.285A>T c.340A>T (p.Ser114Cys) c.349A>T (p.Ser117Cys) c.286A>T (p.Ser96Cys) | |
| 2 | g.113132678G>A | CA348295823 | IL1RN | c.239G>A (p.Ser80Asn) c.*111G>A (n.*111G>A) n.286G>A c.341G>A (p.Ser114Asn) c.350G>A (p.Ser117Asn) c.287G>A (p.Ser96Asn) | |
| 2 | g.113132678G>C | CA348295825 | IL1RN | c.239G>C (p.Ser80Thr) c.*111G>C (n.*111G>C) n.286G>C c.341G>C (p.Ser114Thr) c.350G>C (p.Ser117Thr) c.287G>C (p.Ser96Thr) | |
| 2 | g.113132678G>T | CA348295827 | IL1RN | c.239G>T (p.Ser80Ile) c.*111G>T (n.*111G>T) n.286G>T c.341G>T (p.Ser114Ile) c.350G>T (p.Ser117Ile) c.287G>T (p.Ser96Ile) | |
| 2 | g.113132679C>A | CA348295829 | IL1RN | c.240C>A (p.Ser80Arg) c.*112C>A (n.*112C>A) n.287C>A c.342C>A (p.Ser114Arg) c.351C>A (p.Ser117Arg) c.288C>A (p.Ser96Arg) | |
| 2 | g.113132679C= | CA1280073304 | IL1RN | c.240C= (p.Ser80=) c.*112C= (n.*112C=) n.287C= c.342C= (p.Ser114=) c.351C= (p.Ser117=) c.288C= (p.Ser96=) | |
| 2 | g.113132679C>G | CA348295831 | IL1RN | c.240C>G (p.Ser80Arg) c.*112C>G (n.*112C>G) n.287C>G c.342C>G (p.Ser114Arg) c.351C>G (p.Ser117Arg) c.288C>G (p.Ser96Arg) | gnomAD v4 |
| 2 | g.113132679C>T | CA1838878 | IL1RN | c.240C>T (p.Ser80=) c.*112C>T (n.*112C>T) n.287C>T c.342C>T (p.Ser114=) c.351C>T (p.Ser117=) c.288C>T (p.Ser96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132680G>A | CA1838879 | IL1RN | c.241G>A (p.Glu81Lys) c.*113G>A (n.*113G>A) n.288G>A c.343G>A (p.Glu115Lys) c.352G>A (p.Glu118Lys) c.289G>A (p.Glu97Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132680G>C | CA348295837 | IL1RN | c.241G>C (p.Glu81Gln) c.*113G>C (n.*113G>C) n.288G>C c.343G>C (p.Glu115Gln) c.352G>C (p.Glu118Gln) c.289G>C (p.Glu97Gln) | |
| 2 | g.113132680G= | CA1280073305 | IL1RN | c.241G= (p.Glu81=) c.*113G= (n.*113G=) n.288G= c.343G= (p.Glu115=) c.352G= (p.Glu118=) c.289G= (p.Glu97=) | |
| 2 | g.113132680G>T | CA348295834 | IL1RN | c.241G>T (p.Glu81Ter) c.*113G>T (n.*113G>T) n.288G>T c.343G>T (p.Glu115Ter) c.352G>T (p.Glu118Ter) c.289G>T (p.Glu97Ter) | |
| 2 | g.113132681A>C | CA348295839 | IL1RN | c.242A>C (p.Glu81Ala) c.*114A>C (n.*114A>C) n.289A>C c.344A>C (p.Glu115Ala) c.353A>C (p.Glu118Ala) c.290A>C (p.Glu97Ala) | gnomAD v4 |
| 2 | g.113132681A>G | CA348295841 | IL1RN | c.242A>G (p.Glu81Gly) c.*114A>G (n.*114A>G) n.289A>G c.344A>G (p.Glu115Gly) c.353A>G (p.Glu118Gly) c.290A>G (p.Glu97Gly) | |
| 2 | g.113132681A>T | CA348295844 | IL1RN | c.242A>T (p.Glu81Val) c.*114A>T (n.*114A>T) n.289A>T c.344A>T (p.Glu115Val) c.353A>T (p.Glu118Val) c.290A>T (p.Glu97Val) | |
| 2 | g.113132682G>A | CA428554405 | IL1RN | c.243G>A (p.Glu81=) c.*115G>A (n.*115G>A) n.290G>A c.345G>A (p.Glu115=) c.354G>A (p.Glu118=) c.291G>A (p.Glu97=) | |
| 2 | g.113132682G>C | CA348295845 | IL1RN | c.243G>C (p.Glu81Asp) c.*115G>C (n.*115G>C) n.290G>C c.345G>C (p.Glu115Asp) c.354G>C (p.Glu118Asp) c.291G>C (p.Glu97Asp) | |
| 2 | g.113132682G= | CA1280073306 | IL1RN | c.243G= (p.Glu81=) c.*115G= (n.*115G=) n.290G= c.345G= (p.Glu115=) c.354G= (p.Glu118=) c.291G= (p.Glu97=) | |
| 2 | g.113132682G>T | CA1838880 | IL1RN | c.243G>T (p.Glu81Asp) c.*115G>T (n.*115G>T) n.290G>T c.345G>T (p.Glu115Asp) c.354G>T (p.Glu118Asp) c.291G>T (p.Glu97Asp) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.113132683A>C | CA348295849 | IL1RN | c.244A>C (p.Asn82His) c.*116A>C (n.*116A>C) n.291A>C c.346A>C (p.Asn116His) c.355A>C (p.Asn119His) c.292A>C (p.Asn98His) | |
| 2 | g.113132683A>G | CA348295853 | IL1RN | c.244A>G (p.Asn82Asp) c.*116A>G (n.*116A>G) n.291A>G c.346A>G (p.Asn116Asp) c.355A>G (p.Asn119Asp) c.292A>G (p.Asn98Asp) | |
| 2 | g.113132683A>T | CA348295854 | IL1RN | c.244A>T (p.Asn82Tyr) c.*116A>T (n.*116A>T) n.291A>T c.346A>T (p.Asn116Tyr) c.355A>T (p.Asn119Tyr) c.292A>T (p.Asn98Tyr) | |
| 2 | g.113132684A= | CA1280073307 | IL1RN | c.245A= (p.Asn82=) c.*117A= (n.*117A=) n.292A= c.347A= (p.Asn116=) c.356A= (p.Asn119=) c.293A= (p.Asn98=) | |
| 2 | g.113132684A>C | CA348295856 | IL1RN | c.245A>C (p.Asn82Thr) c.*117A>C (n.*117A>C) n.292A>C c.347A>C (p.Asn116Thr) c.356A>C (p.Asn119Thr) c.293A>C (p.Asn98Thr) | |
| 2 | g.113132684A>G | CA348295860 | IL1RN | c.245A>G (p.Asn82Ser) c.*117A>G (n.*117A>G) n.292A>G c.347A>G (p.Asn116Ser) c.356A>G (p.Asn119Ser) c.293A>G (p.Asn98Ser) | |
| 2 | g.113132684A>T | CA348295863 | IL1RN | c.245A>T (p.Asn82Ile) c.*117A>T (n.*117A>T) n.292A>T c.347A>T (p.Asn116Ile) c.356A>T (p.Asn119Ile) c.293A>T (p.Asn98Ile) | dbSNP |
| 2 | g.113132685C>A | CA348295866 | IL1RN | c.246C>A (p.Asn82Lys) c.*118C>A (n.*118C>A) n.293C>A c.348C>A (p.Asn116Lys) c.357C>A (p.Asn119Lys) c.294C>A (p.Asn98Lys) | |
| 2 | g.113132685C>G | CA348295868 | IL1RN | c.246C>G (p.Asn82Lys) c.*118C>G (n.*118C>G) n.293C>G c.348C>G (p.Asn116Lys) c.357C>G (p.Asn119Lys) c.294C>G (p.Asn98Lys) | |
| 2 | g.113132685C>T | CA428554407 | IL1RN | c.246C>T (p.Asn82=) c.*118C>T (n.*118C>T) n.293C>T c.348C>T (p.Asn116=) c.357C>T (p.Asn119=) c.294C>T (p.Asn98=) | |
| 2 | g.113132686A>C | CA428554408 | IL1RN | c.247A>C (p.Arg83=) c.*119A>C (n.*119A>C) n.294A>C c.349A>C (p.Arg117=) c.358A>C (p.Arg120=) c.295A>C (p.Arg99=) | |
| 2 | g.113132686A>G | CA348295871 | IL1RN | c.247A>G (p.Arg83Gly) c.*119A>G (n.*119A>G) n.294A>G c.349A>G (p.Arg117Gly) c.358A>G (p.Arg120Gly) c.295A>G (p.Arg99Gly) | |
| 2 | g.113132686A>T | CA348295872 | IL1RN | c.247A>T (p.Arg83Ter) c.*119A>T (n.*119A>T) n.294A>T c.349A>T (p.Arg117Ter) c.358A>T (p.Arg120Ter) c.295A>T (p.Arg99Ter) | |
| 2 | g.113132687G>A | CA348295877 | IL1RN | c.248G>A (p.Arg83Lys) c.*120G>A (n.*120G>A) n.295G>A c.350G>A (p.Arg117Lys) c.359G>A (p.Arg120Lys) c.296G>A (p.Arg99Lys) | |
| 2 | g.113132687G>C | CA348295883 | IL1RN | c.248G>C (p.Arg83Thr) c.*120G>C (n.*120G>C) n.295G>C c.350G>C (p.Arg117Thr) c.359G>C (p.Arg120Thr) c.296G>C (p.Arg99Thr) | |
| 2 | g.113132687G>T | CA348295879 | IL1RN | c.248G>T (p.Arg83Ile) c.*120G>T (n.*120G>T) n.295G>T c.350G>T (p.Arg117Ile) c.359G>T (p.Arg120Ile) c.296G>T (p.Arg99Ile) | |
| 2 | g.113132688A>C | CA348295886 | IL1RN | c.249A>C (p.Arg83Ser) c.*121A>C (n.*121A>C) n.296A>C c.351A>C (p.Arg117Ser) c.360A>C (p.Arg120Ser) c.297A>C (p.Arg99Ser) | |
| 2 | g.113132688A>G | CA428554409 | IL1RN | c.249A>G (p.Arg83=) c.*121A>G (n.*121A>G) n.296A>G c.351A>G (p.Arg117=) c.360A>G (p.Arg120=) c.297A>G (p.Arg99=) | |
| 2 | g.113132688A>T | CA348295888 | IL1RN | c.249A>T (p.Arg83Ser) c.*121A>T (n.*121A>T) n.296A>T c.351A>T (p.Arg117Ser) c.360A>T (p.Arg120Ser) c.297A>T (p.Arg99Ser) | |
| 2 | g.113132689A>C | CA348295892 | IL1RN | c.250A>C (p.Lys84Gln) c.*122A>C (n.*122A>C) n.297A>C c.352A>C (p.Lys118Gln) c.361A>C (p.Lys121Gln) c.298A>C (p.Lys100Gln) | |
| 2 | g.113132689A>G | CA348295897 | IL1RN | c.250A>G (p.Lys84Glu) c.*122A>G (n.*122A>G) n.297A>G c.352A>G (p.Lys118Glu) c.361A>G (p.Lys121Glu) c.298A>G (p.Lys100Glu) | |
| 2 | g.113132689A>T | CA348295898 | IL1RN | c.250A>T (p.Lys84Ter) c.*122A>T (n.*122A>T) n.297A>T c.352A>T (p.Lys118Ter) c.361A>T (p.Lys121Ter) c.298A>T (p.Lys100Ter) | |
| 2 | g.113132690A>C | CA348295900 | IL1RN | c.251A>C (p.Lys84Thr) c.*123A>C (n.*123A>C) n.298A>C c.353A>C (p.Lys118Thr) c.362A>C (p.Lys121Thr) c.299A>C (p.Lys100Thr) | |
| 2 | g.113132690A>G | CA348295902 | IL1RN | c.251A>G (p.Lys84Arg) c.*123A>G (n.*123A>G) n.298A>G c.353A>G (p.Lys118Arg) c.362A>G (p.Lys121Arg) c.299A>G (p.Lys100Arg) | |
| 2 | g.113132690A>T | CA348295905 | IL1RN | c.251A>T (p.Lys84Met) c.*123A>T (n.*123A>T) n.298A>T c.353A>T (p.Lys118Met) c.362A>T (p.Lys121Met) c.299A>T (p.Lys100Met) | |
| 2 | g.113132691G>A | CA428554411 | IL1RN | c.252G>A (p.Lys84=) c.*124G>A (n.*124G>A) n.299G>A c.354G>A (p.Lys118=) c.363G>A (p.Lys121=) c.300G>A (p.Lys100=) | |
| 2 | g.113132691G>C | CA348295907 | IL1RN | c.252G>C (p.Lys84Asn) c.*124G>C (n.*124G>C) n.299G>C c.354G>C (p.Lys118Asn) c.363G>C (p.Lys121Asn) c.300G>C (p.Lys100Asn) | |
| 2 | g.113132691G= | CA1280073308 | IL1RN | c.252G= (p.Lys84=) c.*124G= (n.*124G=) n.299G= c.354G= (p.Lys118=) c.363G= (p.Lys121=) c.300G= (p.Lys100=) | |
| 2 | g.113132691G>T | CA1838881 | IL1RN | c.252G>T (p.Lys84Asn) c.*124G>T (n.*124G>T) n.299G>T c.354G>T (p.Lys118Asn) c.363G>T (p.Lys121Asn) c.300G>T (p.Lys100Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132692C>A | CA348295912 | IL1RN | c.253C>A (p.Gln85Lys) c.*125C>A (n.*125C>A) n.300C>A c.355C>A (p.Gln119Lys) c.364C>A (p.Gln122Lys) c.301C>A (p.Gln101Lys) | |
| 2 | g.113132692C>G | CA348295915 | IL1RN | c.253C>G (p.Gln85Glu) c.*125C>G (n.*125C>G) n.300C>G c.355C>G (p.Gln119Glu) c.364C>G (p.Gln122Glu) c.301C>G (p.Gln101Glu) | |
| 2 | g.113132692C>T | CA348295916 | IL1RN | c.253C>T (p.Gln85Ter) c.*125C>T (n.*125C>T) n.300C>T c.355C>T (p.Gln119Ter) c.364C>T (p.Gln122Ter) c.301C>T (p.Gln101Ter) | |
| 2 | g.113132693A>C | CA348295919 | IL1RN | c.254A>C (p.Gln85Pro) c.*126A>C (n.*126A>C) n.301A>C c.356A>C (p.Gln119Pro) c.365A>C (p.Gln122Pro) c.302A>C (p.Gln101Pro) | |
| 2 | g.113132693A>G | CA348295923 | IL1RN | c.254A>G (p.Gln85Arg) c.*126A>G (n.*126A>G) n.301A>G c.356A>G (p.Gln119Arg) c.365A>G (p.Gln122Arg) c.302A>G (p.Gln101Arg) | gnomAD v4 |
| 2 | g.113132693A>T | CA348295921 | IL1RN | c.254A>T (p.Gln85Leu) c.*126A>T (n.*126A>T) n.301A>T c.356A>T (p.Gln119Leu) c.365A>T (p.Gln122Leu) c.302A>T (p.Gln101Leu) | |
| 2 | g.113132694G>A | CA428554415 | IL1RN | c.255G>A (p.Gln85=) c.*127G>A (n.*127G>A) n.302G>A c.357G>A (p.Gln119=) c.366G>A (p.Gln122=) c.303G>A (p.Gln101=) | dbSNP gnomAD v4 |
| 2 | g.113132694G>C | CA348295926 | IL1RN | c.255G>C (p.Gln85His) c.*127G>C (n.*127G>C) n.302G>C c.357G>C (p.Gln119His) c.366G>C (p.Gln122His) c.303G>C (p.Gln101His) | gnomAD v4 |
| 2 | g.113132694G= | CA1280073309 | IL1RN | c.255G= (p.Gln85=) c.*127G= (n.*127G=) n.302G= c.357G= (p.Gln119=) c.366G= (p.Gln122=) c.303G= (p.Gln101=) | |
| 2 | g.113132694G>T | CA348295929 | IL1RN | c.255G>T (p.Gln85His) c.*127G>T (n.*127G>T) n.302G>T c.357G>T (p.Gln119His) c.366G>T (p.Gln122His) c.303G>T (p.Gln101His) | |
| 2 | g.113132695G>A | CA348295932 | IL1RN | c.256G>A (p.Asp86Asn) c.*128G>A (n.*128G>A) n.303G>A c.358G>A (p.Asp120Asn) c.367G>A (p.Asp123Asn) c.304G>A (p.Asp102Asn) | |
| 2 | g.113132695G>C | CA348295934 | IL1RN | c.256G>C (p.Asp86His) c.*128G>C (n.*128G>C) n.303G>C c.358G>C (p.Asp120His) c.367G>C (p.Asp123His) c.304G>C (p.Asp102His) | gnomAD v4 |
| 2 | g.113132695G>T | CA348295937 | IL1RN | c.256G>T (p.Asp86Tyr) c.*128G>T (n.*128G>T) n.303G>T c.358G>T (p.Asp120Tyr) c.367G>T (p.Asp123Tyr) c.304G>T (p.Asp102Tyr) | |
| 2 | g.113132696A>C | CA348295941 | IL1RN | c.257A>C (p.Asp86Ala) c.*129A>C (n.*129A>C) n.304A>C c.359A>C (p.Asp120Ala) c.368A>C (p.Asp123Ala) c.305A>C (p.Asp102Ala) | |
| 2 | g.113132696A>G | CA348295944 | IL1RN | c.257A>G (p.Asp86Gly) c.*129A>G (n.*129A>G) n.304A>G c.359A>G (p.Asp120Gly) c.368A>G (p.Asp123Gly) c.305A>G (p.Asp102Gly) | |
| 2 | g.113132696A>T | CA348295947 | IL1RN | c.257A>T (p.Asp86Val) c.*129A>T (n.*129A>T) n.304A>T c.359A>T (p.Asp120Val) c.368A>T (p.Asp123Val) c.305A>T (p.Asp102Val) | |
| 2 | g.113132697C>A | CA348295948 | IL1RN | c.258C>A (p.Asp86Glu) c.*130C>A (n.*130C>A) n.305C>A c.360C>A (p.Asp120Glu) c.369C>A (p.Asp123Glu) c.306C>A (p.Asp102Glu) | |
| 2 | g.113132697C>G | CA348295951 | IL1RN | c.258C>G (p.Asp86Glu) c.*130C>G (n.*130C>G) n.305C>G c.360C>G (p.Asp120Glu) c.369C>G (p.Asp123Glu) c.306C>G (p.Asp102Glu) | |
| 2 | g.113132697C>T | CA428554417 | IL1RN | c.258C>T (p.Asp86=) c.*130C>T (n.*130C>T) n.305C>T c.360C>T (p.Asp120=) c.369C>T (p.Asp123=) c.306C>T (p.Asp102=) | gnomAD v4 |
| 2 | g.113132698A>C | CA348295957 | IL1RN | c.259A>C (p.Lys87Gln) c.*131A>C (n.*131A>C) n.306A>C c.361A>C (p.Lys121Gln) c.370A>C (p.Lys124Gln) c.307A>C (p.Lys103Gln) | |
| 2 | g.113132698A>G | CA348295956 | IL1RN | c.259A>G (p.Lys87Glu) c.*131A>G (n.*131A>G) n.306A>G c.361A>G (p.Lys121Glu) c.370A>G (p.Lys124Glu) c.307A>G (p.Lys103Glu) | |
| 2 | g.113132698A>T | CA348295953 | IL1RN | c.259A>T (p.Lys87Ter) c.*131A>T (n.*131A>T) n.306A>T c.361A>T (p.Lys121Ter) c.370A>T (p.Lys124Ter) c.307A>T (p.Lys103Ter) | |
| 2 | g.113132699A>C | CA348295960 | IL1RN | c.260A>C (p.Lys87Thr) c.*132A>C (n.*132A>C) n.307A>C c.362A>C (p.Lys121Thr) c.371A>C (p.Lys124Thr) c.308A>C (p.Lys103Thr) | |
| 2 | g.113132699A>G | CA348295961 | IL1RN | c.260A>G (p.Lys87Arg) c.*132A>G (n.*132A>G) n.307A>G c.362A>G (p.Lys121Arg) c.371A>G (p.Lys124Arg) c.308A>G (p.Lys103Arg) | |
| 2 | g.113132699A>T | CA348295964 | IL1RN | c.260A>T (p.Lys87Met) c.*132A>T (n.*132A>T) n.307A>T c.362A>T (p.Lys121Met) c.371A>T (p.Lys124Met) c.308A>T (p.Lys103Met) | |
| 2 | g.113132700G>A | CA428554421 | IL1RN | c.261G>A (p.Lys87=) c.*133G>A (n.*133G>A) n.308G>A c.363G>A (p.Lys121=) c.372G>A (p.Lys124=) c.309G>A (p.Lys103=) | |
| 2 | g.113132700G>C | CA348295967 | IL1RN | c.261G>C (p.Lys87Asn) c.*133G>C (n.*133G>C) n.308G>C c.363G>C (p.Lys121Asn) c.372G>C (p.Lys124Asn) c.309G>C (p.Lys103Asn) | |
| 2 | g.113132700G>T | CA348295971 | IL1RN | c.261G>T (p.Lys87Asn) c.*133G>T (n.*133G>T) n.308G>T c.363G>T (p.Lys121Asn) c.372G>T (p.Lys124Asn) c.309G>T (p.Lys103Asn) | |
| 2 | g.113132701C>A | CA348295974 | IL1RN | c.262C>A (p.Arg88Ser) c.*134C>A (n.*134C>A) n.309C>A c.364C>A (p.Arg122Ser) c.373C>A (p.Arg125Ser) c.310C>A (p.Arg104Ser) | |
| 2 | g.113132701C= | CA1280073310 | IL1RN | c.262C= (p.Arg88=) c.*134C= (n.*134C=) n.309C= c.364C= (p.Arg122=) c.373C= (p.Arg125=) c.310C= (p.Arg104=) | |
| 2 | g.113132701C>G | CA348295977 | IL1RN | c.262C>G (p.Arg88Gly) c.*134C>G (n.*134C>G) n.309C>G c.364C>G (p.Arg122Gly) c.373C>G (p.Arg125Gly) c.310C>G (p.Arg104Gly) | |
| 2 | g.113132701C>T | CA1838882 | IL1RN | c.262C>T (p.Arg88Cys) c.*134C>T (n.*134C>T) n.309C>T c.364C>T (p.Arg122Cys) c.373C>T (p.Arg125Cys) c.310C>T (p.Arg104Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132702G>A | CA1838883 | IL1RN | c.263G>A (p.Arg88His) c.*135G>A (n.*135G>A) n.310G>A c.365G>A (p.Arg122His) c.374G>A (p.Arg125His) c.311G>A (p.Arg104His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.113132702G>C | CA348295981 | IL1RN | c.263G>C (p.Arg88Pro) c.*135G>C (n.*135G>C) n.310G>C c.365G>C (p.Arg122Pro) c.374G>C (p.Arg125Pro) c.311G>C (p.Arg104Pro) | dbSNP |
| 2 | g.113132702G= | CA1280073311 | IL1RN | c.263G= (p.Arg88=) c.*135G= (n.*135G=) n.310G= c.365G= (p.Arg122=) c.374G= (p.Arg125=) c.311G= (p.Arg104=) | |
| 2 | g.113132702G>T | CA348295983 | IL1RN | c.263G>T (p.Arg88Leu) c.*135G>T (n.*135G>T) n.310G>T c.365G>T (p.Arg122Leu) c.374G>T (p.Arg125Leu) c.311G>T (p.Arg104Leu) | |
| 2 | g.113132703C>A | CA428554423 | IL1RN | c.264C>A (p.Arg88=) c.*136C>A (n.*136C>A) n.311C>A c.366C>A (p.Arg122=) c.375C>A (p.Arg125=) c.312C>A (p.Arg104=) | gnomAD v4 |
| 2 | g.113132703C= | CA1280073312 | IL1RN | c.264C= (p.Arg88=) c.*136C= (n.*136C=) n.311C= c.366C= (p.Arg122=) c.375C= (p.Arg125=) c.312C= (p.Arg104=) | |
| 2 | g.113132703C>G | CA428554424 | IL1RN | c.264C>G (p.Arg88=) c.*136C>G (n.*136C>G) n.311C>G c.366C>G (p.Arg122=) c.375C>G (p.Arg125=) c.312C>G (p.Arg104=) | |
| 2 | g.113132703C>T | CA1838884 | IL1RN | c.264C>T (p.Arg88=) c.*136C>T (n.*136C>T) n.311C>T c.366C>T (p.Arg122=) c.375C>T (p.Arg125=) c.312C>T (p.Arg104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.113132704T>A | CA348295994 | IL1RN | c.265T>A (p.Phe89Ile) c.*137T>A (n.*137T>A) n.312T>A c.367T>A (p.Phe123Ile) c.376T>A (p.Phe126Ile) c.313T>A (p.Phe105Ile) | |
| 2 | g.113132704T>C | CA348295991 | IL1RN | c.265T>C (p.Phe89Leu) c.*137T>C (n.*137T>C) n.312T>C c.367T>C (p.Phe123Leu) c.376T>C (p.Phe126Leu) c.313T>C (p.Phe105Leu) | |
| 2 | g.113132704T>G | CA348295988 | IL1RN | c.265T>G (p.Phe89Val) c.*137T>G (n.*137T>G) n.312T>G c.367T>G (p.Phe123Val) c.376T>G (p.Phe126Val) c.313T>G (p.Phe105Val) | |
| 2 | g.113132705T>A | CA348295996 | IL1RN | c.266T>A (p.Phe89Tyr) c.*138T>A (n.*138T>A) n.313T>A c.368T>A (p.Phe123Tyr) c.377T>A (p.Phe126Tyr) c.314T>A (p.Phe105Tyr) | |
| 2 | g.113132705T>C | CA348295998 | IL1RN | c.266T>C (p.Phe89Ser) c.*138T>C (n.*138T>C) n.313T>C c.368T>C (p.Phe123Ser) c.377T>C (p.Phe126Ser) c.314T>C (p.Phe105Ser) | |
| 2 | g.113132705T>G | CA348296000 | IL1RN | c.266T>G (p.Phe89Cys) c.*138T>G (n.*138T>G) n.313T>G c.368T>G (p.Phe123Cys) c.377T>G (p.Phe126Cys) c.314T>G (p.Phe105Cys) | |
| 2 | g.113132706C>A | CA348296002 | IL1RN | c.267C>A (p.Phe89Leu) c.*139C>A (n.*139C>A) n.314C>A c.369C>A (p.Phe123Leu) c.378C>A (p.Phe126Leu) c.315C>A (p.Phe105Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132706C= | CA1280073313 | IL1RN | c.267C= (p.Phe89=) c.*139C= (n.*139C=) n.314C= c.369C= (p.Phe123=) c.378C= (p.Phe126=) c.315C= (p.Phe105=) | |
| 2 | g.113132706C>G | CA348296003 | IL1RN | c.267C>G (p.Phe89Leu) c.*139C>G (n.*139C>G) n.314C>G c.369C>G (p.Phe123Leu) c.378C>G (p.Phe126Leu) c.315C>G (p.Phe105Leu) | |
| 2 | g.113132706C>T | CA1838885 | IL1RN | c.267C>T (p.Phe89=) c.*139C>T (n.*139C>T) n.314C>T c.369C>T (p.Phe123=) c.378C>T (p.Phe126=) c.315C>T (p.Phe105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132707G>A | CA1838886 | IL1RN | c.268G>A (p.Ala90Thr) c.*140G>A (n.*140G>A) n.315G>A c.370G>A (p.Ala124Thr) c.379G>A (p.Ala127Thr) c.316G>A (p.Ala106Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.113132707G>C | CA348296007 | IL1RN | c.268G>C (p.Ala90Pro) c.*140G>C (n.*140G>C) n.315G>C c.370G>C (p.Ala124Pro) c.379G>C (p.Ala127Pro) c.316G>C (p.Ala106Pro) | gnomAD v4 |
| 2 | g.113132707G= | CA1280073314 | IL1RN | c.268G= (p.Ala90=) c.*140G= (n.*140G=) n.315G= c.370G= (p.Ala124=) c.379G= (p.Ala127=) c.316G= (p.Ala106=) | |
| 2 | g.113132707G>T | CA348296008 | IL1RN | c.268G>T (p.Ala90Ser) c.*140G>T (n.*140G>T) n.315G>T c.370G>T (p.Ala124Ser) c.379G>T (p.Ala127Ser) c.316G>T (p.Ala106Ser) | |
| 2 | g.113132708C>A | CA348296010 | IL1RN | c.269C>A (p.Ala90Asp) c.*141C>A (n.*141C>A) n.316C>A c.371C>A (p.Ala124Asp) c.380C>A (p.Ala127Asp) c.317C>A (p.Ala106Asp) | |
| 2 | g.113132708C= | CA1280073315 | IL1RN | c.269C= (p.Ala90=) c.*141C= (n.*141C=) n.316C= c.371C= (p.Ala124=) c.380C= (p.Ala127=) c.317C= (p.Ala106=) | |
| 2 | g.113132708C>G | CA348296012 | IL1RN | c.269C>G (p.Ala90Gly) c.*141C>G (n.*141C>G) n.316C>G c.371C>G (p.Ala124Gly) c.380C>G (p.Ala127Gly) c.317C>G (p.Ala106Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132708C>T | CA348296014 | IL1RN | c.269C>T (p.Ala90Val) c.*141C>T (n.*141C>T) n.316C>T c.371C>T (p.Ala124Val) c.380C>T (p.Ala127Val) c.317C>T (p.Ala106Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132709C>A | CA428554429 | IL1RN | c.270C>A (p.Ala90=) c.*142C>A (n.*142C>A) n.317C>A c.372C>A (p.Ala124=) c.381C>A (p.Ala127=) c.318C>A (p.Ala106=) | |
| 2 | g.113132709C>G | CA428554430 | IL1RN | c.270C>G (p.Ala90=) c.*142C>G (n.*142C>G) n.317C>G c.372C>G (p.Ala124=) c.381C>G (p.Ala127=) c.318C>G (p.Ala106=) | |
| 2 | g.113132709C>T | CA428554431 | IL1RN | c.270C>T (p.Ala90=) c.*142C>T (n.*142C>T) n.317C>T c.372C>T (p.Ala124=) c.381C>T (p.Ala127=) c.318C>T (p.Ala106=) | gnomAD v4 |