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 |
|---|---|---|---|---|---|
| 2 | g.113127561_113134033del | CA235502 | ClinVar | ||
| 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 |
| 2 | g.113132710T>A | CA348296020 | IL1RN | c.271T>A (p.Phe91Ile) c.*143T>A (n.*143T>A) n.318T>A c.373T>A (p.Phe125Ile) c.382T>A (p.Phe128Ile) c.319T>A (p.Phe107Ile) | |
| 2 | g.113132710T>C | CA348296018 | IL1RN | c.271T>C (p.Phe91Leu) c.*143T>C (n.*143T>C) n.318T>C c.373T>C (p.Phe125Leu) c.382T>C (p.Phe128Leu) c.319T>C (p.Phe107Leu) | |
| 2 | g.113132710T>G | CA348296017 | IL1RN | c.271T>G (p.Phe91Val) c.*143T>G (n.*143T>G) n.318T>G c.373T>G (p.Phe125Val) c.382T>G (p.Phe128Val) c.319T>G (p.Phe107Val) | gnomAD v4 |
| 2 | g.113132711T>A | CA348296022 | IL1RN | c.272T>A (p.Phe91Tyr) c.*144T>A (n.*144T>A) n.319T>A c.374T>A (p.Phe125Tyr) c.383T>A (p.Phe128Tyr) c.320T>A (p.Phe107Tyr) | |
| 2 | g.113132711T>C | CA348296025 | IL1RN | c.272T>C (p.Phe91Ser) c.*144T>C (n.*144T>C) n.319T>C c.374T>C (p.Phe125Ser) c.383T>C (p.Phe128Ser) c.320T>C (p.Phe107Ser) | |
| 2 | g.113132711T>G | CA348296024 | IL1RN | c.272T>G (p.Phe91Cys) c.*144T>G (n.*144T>G) n.319T>G c.374T>G (p.Phe125Cys) c.383T>G (p.Phe128Cys) c.320T>G (p.Phe107Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132711T= | CA1280073316 | IL1RN | c.272T= (p.Phe91=) c.*144T= (n.*144T=) n.319T= c.374T= (p.Phe125=) c.383T= (p.Phe128=) c.320T= (p.Phe107=) | |
| 2 | g.113132712C>A | CA348296027 | IL1RN | c.273C>A (p.Phe91Leu) c.*145C>A (n.*145C>A) n.320C>A c.375C>A (p.Phe125Leu) c.384C>A (p.Phe128Leu) c.321C>A (p.Phe107Leu) | |
| 2 | g.113132712C>G | CA348296028 | IL1RN | c.273C>G (p.Phe91Leu) c.*145C>G (n.*145C>G) n.320C>G c.375C>G (p.Phe125Leu) c.384C>G (p.Phe128Leu) c.321C>G (p.Phe107Leu) | |
| 2 | g.113132712C>T | CA428554435 | IL1RN | c.273C>T (p.Phe91=) c.*145C>T (n.*145C>T) n.320C>T c.375C>T (p.Phe125=) c.384C>T (p.Phe128=) c.321C>T (p.Phe107=) | gnomAD v4 |
| 2 | g.113132713A>C | CA348296030 | IL1RN | c.274A>C (p.Ile92Leu) c.*146A>C (n.*146A>C) n.321A>C c.376A>C (p.Ile126Leu) c.385A>C (p.Ile129Leu) c.322A>C (p.Ile108Leu) | |
| 2 | g.113132713A>G | CA348296032 | IL1RN | c.274A>G (p.Ile92Val) c.*146A>G (n.*146A>G) n.321A>G c.376A>G (p.Ile126Val) c.385A>G (p.Ile129Val) c.322A>G (p.Ile108Val) | |
| 2 | g.113132713A>T | CA348296033 | IL1RN | c.274A>T (p.Ile92Phe) c.*146A>T (n.*146A>T) n.321A>T c.376A>T (p.Ile126Phe) c.385A>T (p.Ile129Phe) c.322A>T (p.Ile108Phe) | |
| 2 | g.113132714T>A | CA348296036 | IL1RN | c.275T>A (p.Ile92Asn) c.*147T>A (n.*147T>A) n.322T>A c.377T>A (p.Ile126Asn) c.386T>A (p.Ile129Asn) c.323T>A (p.Ile108Asn) | gnomAD v4 |
| 2 | g.113132714T>C | CA348296037 | IL1RN | c.275T>C (p.Ile92Thr) c.*147T>C (n.*147T>C) n.322T>C c.377T>C (p.Ile126Thr) c.386T>C (p.Ile129Thr) c.323T>C (p.Ile108Thr) | ClinVar dbSNP |
| 2 | g.113132714T>G | CA348296039 | IL1RN | c.275T>G (p.Ile92Ser) c.*147T>G (n.*147T>G) n.322T>G c.377T>G (p.Ile126Ser) c.386T>G (p.Ile129Ser) c.323T>G (p.Ile108Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132714T= | CA1280073317 | IL1RN | c.275T= (p.Ile92=) c.*147T= (n.*147T=) n.322T= c.377T= (p.Ile126=) c.386T= (p.Ile129=) c.323T= (p.Ile108=) | |
| 2 | g.113132715C>A | CA428554439 | IL1RN | c.276C>A (p.Ile92=) c.*148C>A (n.*148C>A) n.323C>A c.378C>A (p.Ile126=) c.387C>A (p.Ile129=) c.324C>A (p.Ile108=) | |
| 2 | g.113132715C>G | CA348296040 | IL1RN | c.276C>G (p.Ile92Met) c.*148C>G (n.*148C>G) n.323C>G c.378C>G (p.Ile126Met) c.387C>G (p.Ile129Met) c.324C>G (p.Ile108Met) | |
| 2 | g.113132715C>T | CA428554440 | IL1RN | c.276C>T (p.Ile92=) c.*148C>T (n.*148C>T) n.323C>T c.378C>T (p.Ile126=) c.387C>T (p.Ile129=) c.324C>T (p.Ile108=) | |
| 2 | g.113132716C>A | CA348296042 | IL1RN | c.277C>A (p.Arg93Ser) c.*149C>A (n.*149C>A) n.324C>A c.379C>A (p.Arg127Ser) c.388C>A (p.Arg130Ser) c.325C>A (p.Arg109Ser) | gnomAD v4 |
| 2 | g.113132716C= | CA1280073318 | IL1RN | c.277C= (p.Arg93=) c.*149C= (n.*149C=) n.324C= c.379C= (p.Arg127=) c.388C= (p.Arg130=) c.325C= (p.Arg109=) | |
| 2 | g.113132716C>G | CA348296044 | IL1RN | c.277C>G (p.Arg93Gly) c.*149C>G (n.*149C>G) n.324C>G c.379C>G (p.Arg127Gly) c.388C>G (p.Arg130Gly) c.325C>G (p.Arg109Gly) | |
| 2 | g.113132716C>T | CA1838887 | IL1RN | c.277C>T (p.Arg93Cys) c.*149C>T (n.*149C>T) n.324C>T c.379C>T (p.Arg127Cys) c.388C>T (p.Arg130Cys) c.325C>T (p.Arg109Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132717G>A | CA1838888 | IL1RN | c.278G>A (p.Arg93His) c.*150G>A (n.*150G>A) n.325G>A c.380G>A (p.Arg127His) c.389G>A (p.Arg130His) c.326G>A (p.Arg109His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.113132717G>C | CA348296048 | IL1RN | c.278G>C (p.Arg93Pro) c.*150G>C (n.*150G>C) n.325G>C c.380G>C (p.Arg127Pro) c.389G>C (p.Arg130Pro) c.326G>C (p.Arg109Pro) | |
| 2 | g.113132717G= | CA1280073319 | IL1RN | c.278G= (p.Arg93=) c.*150G= (n.*150G=) n.325G= c.380G= (p.Arg127=) c.389G= (p.Arg130=) c.326G= (p.Arg109=) | |
| 2 | g.113132717G>T | CA348296047 | IL1RN | c.278G>T (p.Arg93Leu) c.*150G>T (n.*150G>T) n.325G>T c.380G>T (p.Arg127Leu) c.389G>T (p.Arg130Leu) c.326G>T (p.Arg109Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132718C>A | CA428554444 | IL1RN | c.279C>A (p.Arg93=) c.*151C>A (n.*151C>A) n.326C>A c.381C>A (p.Arg127=) c.390C>A (p.Arg130=) c.327C>A (p.Arg109=) | |
| 2 | g.113132718C>G | CA428554445 | IL1RN | c.279C>G (p.Arg93=) c.*151C>G (n.*151C>G) n.326C>G c.381C>G (p.Arg127=) c.390C>G (p.Arg130=) c.327C>G (p.Arg109=) | |
| 2 | g.113132718C>T | CA428554446 | IL1RN | c.279C>T (p.Arg93=) c.*151C>T (n.*151C>T) n.326C>T c.381C>T (p.Arg127=) c.390C>T (p.Arg130=) c.327C>T (p.Arg109=) | |
| 2 | g.113132719T>A | CA348296051 | IL1RN | c.280T>A (p.Ser94Thr) c.*152T>A (n.*152T>A) n.327T>A c.382T>A (p.Ser128Thr) c.391T>A (p.Ser131Thr) c.328T>A (p.Ser110Thr) | |
| 2 | g.113132719T>C | CA348296052 | IL1RN | c.280T>C (p.Ser94Pro) c.*152T>C (n.*152T>C) n.327T>C c.382T>C (p.Ser128Pro) c.391T>C (p.Ser131Pro) c.328T>C (p.Ser110Pro) | |
| 2 | g.113132719T>G | CA348296054 | IL1RN | c.280T>G (p.Ser94Ala) c.*152T>G (n.*152T>G) n.327T>G c.382T>G (p.Ser128Ala) c.391T>G (p.Ser131Ala) c.328T>G (p.Ser110Ala) | |
| 2 | g.113132720C>A | CA348296055 | IL1RN | c.281C>A (p.Ser94Ter) c.*153C>A (n.*153C>A) n.328C>A c.383C>A (p.Ser128Ter) c.392C>A (p.Ser131Ter) c.329C>A (p.Ser110Ter) | |
| 2 | g.113132720C>G | CA348296056 | IL1RN | c.281C>G (p.Ser94Ter) c.*153C>G (n.*153C>G) n.328C>G c.383C>G (p.Ser128Ter) c.392C>G (p.Ser131Ter) c.329C>G (p.Ser110Ter) | |
| 2 | g.113132720C>T | CA348296058 | IL1RN | c.281C>T (p.Ser94Leu) c.*153C>T (n.*153C>T) n.328C>T c.383C>T (p.Ser128Leu) c.392C>T (p.Ser131Leu) c.329C>T (p.Ser110Leu) | COSMIC COSMIC COSMIC |
| 2 | g.113132723_113132726del | CA2499214957 | IL1RN | c.284_287del (p.Asp95ValfsTer?) c.*156_*159del (n.*156_*159del) n.331_334del c.386_389del (p.Asp129ValfsTer?) c.395_398del (p.Asp132ValfsTer?) c.332_335del (p.Asp111ValfsTer?) | ClinVar dbSNP |
| 2 | g.113132721A= | CA1280073320 | IL1RN | c.282A= (p.Ser94=) c.*154A= (n.*154A=) n.329A= c.384A= (p.Ser128=) c.393A= (p.Ser131=) c.330A= (p.Ser110=) | |
| 2 | g.113132721A>C | CA428554448 | IL1RN | c.282A>C (p.Ser94=) c.*154A>C (n.*154A>C) n.329A>C c.384A>C (p.Ser128=) c.393A>C (p.Ser131=) c.330A>C (p.Ser110=) | |
| 2 | g.113132721A>G | CA53697673 | IL1RN | c.282A>G (p.Ser94=) c.*154A>G (n.*154A>G) n.329A>G c.384A>G (p.Ser128=) c.393A>G (p.Ser131=) c.330A>G (p.Ser110=) | dbSNP |
| 2 | g.113132721A>T | CA428554449 | IL1RN | c.282A>T (p.Ser94=) c.*154A>T (n.*154A>T) n.329A>T c.384A>T (p.Ser128=) c.393A>T (p.Ser131=) c.330A>T (p.Ser110=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.113132722G>A | CA1838889 | IL1RN | c.283G>A (p.Asp95Asn) c.*155G>A (n.*155G>A) n.330G>A c.385G>A (p.Asp129Asn) c.394G>A (p.Asp132Asn) c.331G>A (p.Asp111Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132722G>C | CA348296061 | IL1RN | c.283G>C (p.Asp95His) c.*155G>C (n.*155G>C) n.330G>C c.385G>C (p.Asp129His) c.394G>C (p.Asp132His) c.331G>C (p.Asp111His) | gnomAD v4 |
| 2 | g.113132722G= | CA1280073321 | IL1RN | c.283G= (p.Asp95=) c.*155G= (n.*155G=) n.330G= c.385G= (p.Asp129=) c.394G= (p.Asp132=) c.331G= (p.Asp111=) | |
| 2 | g.113132722G>T | CA348296063 | IL1RN | c.283G>T (p.Asp95Tyr) c.*155G>T (n.*155G>T) n.330G>T c.385G>T (p.Asp129Tyr) c.394G>T (p.Asp132Tyr) c.331G>T (p.Asp111Tyr) | |
| 2 | g.113132723del | CA2660765819 | IL1RN | c.284del (p.Asp95AlafsTer?) c.*156del (n.*156del) n.331del c.386del (p.Asp129AlafsTer?) c.395del (p.Asp132AlafsTer?) c.332del (p.Asp111AlafsTer?) | gnomAD v4 |
| 2 | g.113132723A>C | CA348296066 | IL1RN | c.284A>C (p.Asp95Ala) c.*156A>C (n.*156A>C) n.331A>C c.386A>C (p.Asp129Ala) c.395A>C (p.Asp132Ala) c.332A>C (p.Asp111Ala) | |
| 2 | g.113132723A>G | CA348296068 | IL1RN | c.284A>G (p.Asp95Gly) c.*156A>G (n.*156A>G) n.331A>G c.386A>G (p.Asp129Gly) c.395A>G (p.Asp132Gly) c.332A>G (p.Asp111Gly) | |
| 2 | g.113132723A>T | CA348296065 | IL1RN | c.284A>T (p.Asp95Val) c.*156A>T (n.*156A>T) n.331A>T c.386A>T (p.Asp129Val) c.395A>T (p.Asp132Val) c.332A>T (p.Asp111Val) | COSMIC COSMIC COSMIC |
| 2 | g.113132724C>A | CA348296069 | IL1RN | c.285C>A (p.Asp95Glu) c.*157C>A (n.*157C>A) n.332C>A c.387C>A (p.Asp129Glu) c.396C>A (p.Asp132Glu) c.333C>A (p.Asp111Glu) | |
| 2 | g.113132724C= | CA1280073322 | IL1RN | c.285C= (p.Asp95=) c.*157C= (n.*157C=) n.332C= c.387C= (p.Asp129=) c.396C= (p.Asp132=) c.333C= (p.Asp111=) | |
| 2 | g.113132724C>G | CA53697692 | IL1RN | c.285C>G (p.Asp95Glu) c.*157C>G (n.*157C>G) n.332C>G c.387C>G (p.Asp129Glu) c.396C>G (p.Asp132Glu) c.333C>G (p.Asp111Glu) | dbSNP gnomAD v4 |
| 2 | g.113132724C>T | CA428554451 | IL1RN | c.285C>T (p.Asp95=) c.*157C>T (n.*157C>T) n.332C>T c.387C>T (p.Asp129=) c.396C>T (p.Asp132=) c.333C>T (p.Asp111=) | |
| 2 | g.113132725A= | CA1280073323 | IL1RN | c.286A= (p.Ser96=) c.*158A= (n.*158A=) n.333A= c.388A= (p.Ser130=) c.397A= (p.Ser133=) c.334A= (p.Ser112=) | |
| 2 | g.113132725A>C | CA348296072 | IL1RN | c.286A>C (p.Ser96Arg) c.*158A>C (n.*158A>C) n.333A>C c.388A>C (p.Ser130Arg) c.397A>C (p.Ser133Arg) c.334A>C (p.Ser112Arg) | gnomAD v4 |
| 2 | g.113132725A>G | CA348296073 | IL1RN | c.286A>G (p.Ser96Gly) c.*158A>G (n.*158A>G) n.333A>G c.388A>G (p.Ser130Gly) c.397A>G (p.Ser133Gly) c.334A>G (p.Ser112Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132725A>T | CA348296075 | IL1RN | c.286A>T (p.Ser96Cys) c.*158A>T (n.*158A>T) n.333A>T c.388A>T (p.Ser130Cys) c.397A>T (p.Ser133Cys) c.334A>T (p.Ser112Cys) | |
| 2 | g.113132726G>A | CA348296080 | IL1RN | c.287G>A (p.Ser96Asn) c.*159G>A (n.*159G>A) n.334G>A c.389G>A (p.Ser130Asn) c.398G>A (p.Ser133Asn) c.335G>A (p.Ser112Asn) | dbSNP gnomAD v4 |
| 2 | g.113132726G>C | CA348296079 | IL1RN | c.287G>C (p.Ser96Thr) c.*159G>C (n.*159G>C) n.334G>C c.389G>C (p.Ser130Thr) c.398G>C (p.Ser133Thr) c.335G>C (p.Ser112Thr) | gnomAD v4 |
| 2 | g.113132726G= | CA1280073324 | IL1RN | c.287G= (p.Ser96=) c.*159G= (n.*159G=) n.334G= c.389G= (p.Ser130=) c.398G= (p.Ser133=) c.335G= (p.Ser112=) | |
| 2 | g.113132726G>T | CA348296078 | IL1RN | c.287G>T (p.Ser96Ile) c.*159G>T (n.*159G>T) n.334G>T c.389G>T (p.Ser130Ile) c.398G>T (p.Ser133Ile) c.335G>T (p.Ser112Ile) | |
| 2 | g.113132726_113132727insCGGC | CA2660765820 | IL1RN | c.287_288insCGGC (p.Pro98TrpfsTer7) c.*159_*160insCGGC (n.*159_*160insCGGC) n.334_335insCGGC c.389_390insCGGC (p.Pro132TrpfsTer7) c.398_399insCGGC (p.Pro135TrpfsTer7) c.335_336insCGGC (p.Pro114TrpfsTer7) | gnomAD v4 |
| 2 | g.113132727T>A | CA1838891 | IL1RN | c.288T>A (p.Ser96Arg) c.*160T>A (n.*160T>A) n.335T>A c.390T>A (p.Ser130Arg) c.399T>A (p.Ser133Arg) c.336T>A (p.Ser112Arg) | dbSNP ExAC |
| 2 | g.113132727T>C | CA1838890 | IL1RN | c.288T>C (p.Ser96=) c.*160T>C (n.*160T>C) n.335T>C c.390T>C (p.Ser130=) c.399T>C (p.Ser133=) c.336T>C (p.Ser112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132727T>G | CA348296084 | IL1RN | c.288T>G (p.Ser96Arg) c.*160T>G (n.*160T>G) n.335T>G c.390T>G (p.Ser130Arg) c.399T>G (p.Ser133Arg) c.336T>G (p.Ser112Arg) | |
| 2 | g.113132727T= | CA1280073325 | IL1RN | c.288T= (p.Ser96=) c.*160T= (n.*160T=) n.335T= c.390T= (p.Ser130=) c.399T= (p.Ser133=) c.336T= (p.Ser112=) | |
| 2 | g.113132727_113132728delinsCA | CA2580063758 | IL1RN | c.288_289delinsCA (p.Gly97Ser) c.*160_*161delinsCA (n.*160_*161delinsCA) n.335_336delinsCA c.390_391delinsCA (p.Gly131Ser) c.399_400delinsCA (p.Gly134Ser) c.336_337delinsCA (p.Gly113Ser) | ClinVar |
| 2 | g.113132728G>A | CA348296086 | IL1RN | c.289G>A (p.Gly97Ser) c.*161G>A (n.*161G>A) n.336G>A c.391G>A (p.Gly131Ser) c.400G>A (p.Gly134Ser) c.337G>A (p.Gly113Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 2 | g.113132728G>C | CA348296087 | IL1RN | c.289G>C (p.Gly97Arg) c.*161G>C (n.*161G>C) n.336G>C c.391G>C (p.Gly131Arg) c.400G>C (p.Gly134Arg) c.337G>C (p.Gly113Arg) | |
| 2 | g.113132728G= | CA1280073326 | IL1RN | c.289G= (p.Gly97=) c.*161G= (n.*161G=) n.336G= c.391G= (p.Gly131=) c.400G= (p.Gly134=) c.337G= (p.Gly113=) | |
| 2 | g.113132728G>T | CA348296088 | IL1RN | c.289G>T (p.Gly97Cys) c.*161G>T (n.*161G>T) n.336G>T c.391G>T (p.Gly131Cys) c.400G>T (p.Gly134Cys) c.337G>T (p.Gly113Cys) | ClinVar dbSNP gnomAD v4 |
| 2 | g.113132729G>A | CA348296089 | IL1RN | c.290G>A (p.Gly97Asp) c.*162G>A (n.*162G>A) n.337G>A c.392G>A (p.Gly131Asp) c.401G>A (p.Gly134Asp) c.338G>A (p.Gly113Asp) | |
| 2 | g.113132729G>C | CA348296091 | IL1RN | c.290G>C (p.Gly97Ala) c.*162G>C (n.*162G>C) n.337G>C c.392G>C (p.Gly131Ala) c.401G>C (p.Gly134Ala) c.338G>C (p.Gly113Ala) | |
| 2 | g.113132729G>T | CA348296090 | IL1RN | c.290G>T (p.Gly97Val) c.*162G>T (n.*162G>T) n.337G>T c.392G>T (p.Gly131Val) c.401G>T (p.Gly134Val) c.338G>T (p.Gly113Val) | |
| 2 | g.113132730C>A | CA428554455 | IL1RN | c.291C>A (p.Gly97=) c.*163C>A (n.*163C>A) n.338C>A c.393C>A (p.Gly131=) c.402C>A (p.Gly134=) c.339C>A (p.Gly113=) | |
| 2 | g.113132730C= | CA1280073327 | IL1RN | c.291C= (p.Gly97=) c.*163C= (n.*163C=) n.338C= c.393C= (p.Gly131=) c.402C= (p.Gly134=) c.339C= (p.Gly113=) | |
| 2 | g.113132730C>G | CA428554456 | IL1RN | c.291C>G (p.Gly97=) c.*163C>G (n.*163C>G) n.338C>G c.393C>G (p.Gly131=) c.402C>G (p.Gly134=) c.339C>G (p.Gly113=) | gnomAD v4 |
| 2 | g.113132730C>T | CA428554457 | IL1RN | c.291C>T (p.Gly97=) c.*163C>T (n.*163C>T) n.338C>T c.393C>T (p.Gly131=) c.402C>T (p.Gly134=) c.339C>T (p.Gly113=) | dbSNP gnomAD v4 |
| 2 | g.113132733del | CA2660765821 | IL1RN | c.294del (p.Thr99ProfsTer?) c.*166del (n.*166del) n.341del c.396del (p.Thr133ProfsTer?) c.405del (p.Thr136ProfsTer?) c.342del (p.Thr115ProfsTer?) | gnomAD v4 |
| 2 | g.113132731C>A | CA348296092 | IL1RN | c.292C>A (p.Pro98Thr) c.*164C>A (n.*164C>A) n.339C>A c.394C>A (p.Pro132Thr) c.403C>A (p.Pro135Thr) c.340C>A (p.Pro114Thr) | |
| 2 | g.113132731C>G | CA348296093 | IL1RN | c.292C>G (p.Pro98Ala) c.*164C>G (n.*164C>G) n.339C>G c.394C>G (p.Pro132Ala) c.403C>G (p.Pro135Ala) c.340C>G (p.Pro114Ala) | |
| 2 | g.113132731C>T | CA348296094 | IL1RN | c.292C>T (p.Pro98Ser) c.*164C>T (n.*164C>T) n.339C>T c.394C>T (p.Pro132Ser) c.403C>T (p.Pro135Ser) c.340C>T (p.Pro114Ser) | |
| 2 | g.113132732C>A | CA348296095 | IL1RN | c.293C>A (p.Pro98His) c.*165C>A (n.*165C>A) n.340C>A c.395C>A (p.Pro132His) c.404C>A (p.Pro135His) c.341C>A (p.Pro114His) | |
| 2 | g.113132732C>G | CA348296096 | IL1RN | c.293C>G (p.Pro98Arg) c.*165C>G (n.*165C>G) n.340C>G c.395C>G (p.Pro132Arg) c.404C>G (p.Pro135Arg) c.341C>G (p.Pro114Arg) | |
| 2 | g.113132732C>T | CA348296097 | IL1RN | c.293C>T (p.Pro98Leu) c.*165C>T (n.*165C>T) n.340C>T c.395C>T (p.Pro132Leu) c.404C>T (p.Pro135Leu) c.341C>T (p.Pro114Leu) | |
| 2 | g.113132733C>A | CA428554461 | IL1RN | c.294C>A (p.Pro98=) c.*166C>A (n.*166C>A) n.341C>A c.396C>A (p.Pro132=) c.405C>A (p.Pro135=) c.342C>A (p.Pro114=) | |
| 2 | g.113132733C>G | CA428554462 | IL1RN | c.294C>G (p.Pro98=) c.*166C>G (n.*166C>G) n.341C>G c.396C>G (p.Pro132=) c.405C>G (p.Pro135=) c.342C>G (p.Pro114=) | ClinVar |
| 2 | g.113132733C>T | CA428554460 | IL1RN | c.294C>T (p.Pro98=) c.*166C>T (n.*166C>T) n.341C>T c.396C>T (p.Pro132=) c.405C>T (p.Pro135=) c.342C>T (p.Pro114=) | |
| 2 | g.113132734A= | CA1280073328 | IL1RN | c.295A= (p.Thr99=) c.*167A= (n.*167A=) n.342A= c.397A= (p.Thr133=) c.406A= (p.Thr136=) c.343A= (p.Thr115=) | |
| 2 | g.113132734A>C | CA348296098 | IL1RN | c.295A>C (p.Thr99Pro) c.*167A>C (n.*167A>C) n.342A>C c.397A>C (p.Thr133Pro) c.406A>C (p.Thr136Pro) c.343A>C (p.Thr115Pro) | |
| 2 | g.113132734A>G | CA1838892 | IL1RN | c.295A>G (p.Thr99Ala) c.*167A>G (n.*167A>G) n.342A>G c.397A>G (p.Thr133Ala) c.406A>G (p.Thr136Ala) c.343A>G (p.Thr115Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132734A>T | CA348296099 | IL1RN | c.295A>T (p.Thr99Ser) c.*167A>T (n.*167A>T) n.342A>T c.397A>T (p.Thr133Ser) c.406A>T (p.Thr136Ser) c.343A>T (p.Thr115Ser) | |
| 2 | g.113132735C>A | CA348296100 | IL1RN | c.296C>A (p.Thr99Asn) c.*168C>A (n.*168C>A) n.343C>A c.398C>A (p.Thr133Asn) c.407C>A (p.Thr136Asn) c.344C>A (p.Thr115Asn) | |
| 2 | g.113132735C>G | CA348296101 | IL1RN | c.296C>G (p.Thr99Ser) c.*168C>G (n.*168C>G) n.343C>G c.398C>G (p.Thr133Ser) c.407C>G (p.Thr136Ser) c.344C>G (p.Thr115Ser) | |
| 2 | g.113132735C>T | CA348296102 | IL1RN | c.296C>T (p.Thr99Ile) c.*168C>T (n.*168C>T) n.343C>T c.398C>T (p.Thr133Ile) c.407C>T (p.Thr136Ile) c.344C>T (p.Thr115Ile) | |
| 2 | g.113132736C>A | CA428554465 | IL1RN | c.297C>A (p.Thr99=) c.*169C>A (n.*169C>A) n.344C>A c.399C>A (p.Thr133=) c.408C>A (p.Thr136=) c.345C>A (p.Thr115=) | |
| 2 | g.113132736C>G | CA428554464 | IL1RN | c.297C>G (p.Thr99=) c.*169C>G (n.*169C>G) n.344C>G c.399C>G (p.Thr133=) c.408C>G (p.Thr136=) c.345C>G (p.Thr115=) | |
| 2 | g.113132736C>T | CA428554463 | IL1RN | c.297C>T (p.Thr99=) c.*169C>T (n.*169C>T) n.344C>T c.399C>T (p.Thr133=) c.408C>T (p.Thr136=) c.345C>T (p.Thr115=) | |
| 2 | g.113132737A>C | CA348296103 | IL1RN | c.298A>C (p.Thr100Pro) c.*170A>C (n.*170A>C) n.345A>C c.400A>C (p.Thr134Pro) c.409A>C (p.Thr137Pro) c.346A>C (p.Thr116Pro) | |
| 2 | g.113132737A>G | CA348296105 | IL1RN | c.298A>G (p.Thr100Ala) c.*170A>G (n.*170A>G) n.345A>G c.400A>G (p.Thr134Ala) c.409A>G (p.Thr137Ala) c.346A>G (p.Thr116Ala) | |
| 2 | g.113132737A>T | CA348296104 | IL1RN | c.298A>T (p.Thr100Ser) c.*170A>T (n.*170A>T) n.345A>T c.400A>T (p.Thr134Ser) c.409A>T (p.Thr137Ser) c.346A>T (p.Thr116Ser) | |
| 2 | g.113132738C>A | CA348296106 | IL1RN | c.299C>A (p.Thr100Asn) c.*171C>A (n.*171C>A) n.346C>A c.401C>A (p.Thr134Asn) c.410C>A (p.Thr137Asn) c.347C>A (p.Thr116Asn) | |
| 2 | g.113132738C= | CA1280073329 | IL1RN | c.299C= (p.Thr100=) c.*171C= (n.*171C=) n.346C= c.401C= (p.Thr134=) c.410C= (p.Thr137=) c.347C= (p.Thr116=) | |
| 2 | g.113132738C>G | CA348296107 | IL1RN | c.299C>G (p.Thr100Ser) c.*171C>G (n.*171C>G) n.346C>G c.401C>G (p.Thr134Ser) c.410C>G (p.Thr137Ser) c.347C>G (p.Thr116Ser) | |
| 2 | g.113132738C>T | CA1838893 | IL1RN | c.299C>T (p.Thr100Ile) c.*171C>T (n.*171C>T) n.346C>T c.401C>T (p.Thr134Ile) c.410C>T (p.Thr137Ile) c.347C>T (p.Thr116Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132739C>A | CA428554468 | IL1RN | c.300C>A (p.Thr100=) c.*172C>A (n.*172C>A) n.347C>A c.402C>A (p.Thr134=) c.411C>A (p.Thr137=) c.348C>A (p.Thr116=) | gnomAD v4 |
| 2 | g.113132739C= | CA1280073330 | IL1RN | c.300C= (p.Thr100=) c.*172C= (n.*172C=) n.347C= c.402C= (p.Thr134=) c.411C= (p.Thr137=) c.348C= (p.Thr116=) | |
| 2 | g.113132739C>G | CA428554470 | IL1RN | c.300C>G (p.Thr100=) c.*172C>G (n.*172C>G) n.347C>G c.402C>G (p.Thr134=) c.411C>G (p.Thr137=) c.348C>G (p.Thr116=) | gnomAD v4 |
| 2 | g.113132739C>T | CA428554469 | IL1RN | c.300C>T (p.Thr100=) c.*172C>T (n.*172C>T) n.347C>T c.402C>T (p.Thr134=) c.411C>T (p.Thr137=) c.348C>T (p.Thr116=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132740A>C | CA348296108 | IL1RN | c.301A>C (p.Ser101Arg) c.*173A>C (n.*173A>C) n.348A>C c.403A>C (p.Ser135Arg) c.412A>C (p.Ser138Arg) c.349A>C (p.Ser117Arg) | |
| 2 | g.113132740A>G | CA348296110 | IL1RN | c.301A>G (p.Ser101Gly) c.*173A>G (n.*173A>G) n.348A>G c.403A>G (p.Ser135Gly) c.412A>G (p.Ser138Gly) c.349A>G (p.Ser117Gly) | |
| 2 | g.113132740A>T | CA348296109 | IL1RN | c.301A>T (p.Ser101Cys) c.*173A>T (n.*173A>T) n.348A>T c.403A>T (p.Ser135Cys) c.412A>T (p.Ser138Cys) c.349A>T (p.Ser117Cys) | |
| 2 | g.113132741G>A | CA348296111 | IL1RN | c.302G>A (p.Ser101Asn) c.*174G>A (n.*174G>A) n.349G>A c.404G>A (p.Ser135Asn) c.413G>A (p.Ser138Asn) c.350G>A (p.Ser117Asn) | |
| 2 | g.113132741G>C | CA348296113 | IL1RN | c.302G>C (p.Ser101Thr) c.*174G>C (n.*174G>C) n.349G>C c.404G>C (p.Ser135Thr) c.413G>C (p.Ser138Thr) c.350G>C (p.Ser117Thr) | |
| 2 | g.113132741G>T | CA348296112 | IL1RN | c.302G>T (p.Ser101Ile) c.*174G>T (n.*174G>T) n.349G>T c.404G>T (p.Ser135Ile) c.413G>T (p.Ser138Ile) c.350G>T (p.Ser117Ile) | |
| 2 | g.113132742T>A | CA348296114 | IL1RN | c.303T>A (p.Ser101Arg) c.*175T>A (n.*175T>A) n.350T>A c.405T>A (p.Ser135Arg) c.414T>A (p.Ser138Arg) c.351T>A (p.Ser117Arg) | |
| 2 | g.113132742T>C | CA428554473 | IL1RN | c.303T>C (p.Ser101=) c.*175T>C (n.*175T>C) n.350T>C c.405T>C (p.Ser135=) c.414T>C (p.Ser138=) c.351T>C (p.Ser117=) | |
| 2 | g.113132742T>G | CA348296115 | IL1RN | c.303T>G (p.Ser101Arg) c.*175T>G (n.*175T>G) n.350T>G c.405T>G (p.Ser135Arg) c.414T>G (p.Ser138Arg) c.351T>G (p.Ser117Arg) | |
| 2 | g.113132743T>A | CA348296116 | IL1RN | c.304T>A (p.Phe102Ile) c.*176T>A (n.*176T>A) n.351T>A c.406T>A (p.Phe136Ile) c.415T>A (p.Phe139Ile) c.352T>A (p.Phe118Ile) | |
| 2 | g.113132743T>C | CA348296117 | IL1RN | c.304T>C (p.Phe102Leu) c.*176T>C (n.*176T>C) n.351T>C c.406T>C (p.Phe136Leu) c.415T>C (p.Phe139Leu) c.352T>C (p.Phe118Leu) | |
| 2 | g.113132743T>G | CA348296118 | IL1RN | c.304T>G (p.Phe102Val) c.*176T>G (n.*176T>G) n.351T>G c.406T>G (p.Phe136Val) c.415T>G (p.Phe139Val) c.352T>G (p.Phe118Val) | |
| 2 | g.113132744T>A | CA348296119 | IL1RN | c.305T>A (p.Phe102Tyr) c.*177T>A (n.*177T>A) n.352T>A c.407T>A (p.Phe136Tyr) c.416T>A (p.Phe139Tyr) c.353T>A (p.Phe118Tyr) | |
| 2 | g.113132744T>C | CA348296120 | IL1RN | c.305T>C (p.Phe102Ser) c.*177T>C (n.*177T>C) n.352T>C c.407T>C (p.Phe136Ser) c.416T>C (p.Phe139Ser) c.353T>C (p.Phe118Ser) | |
| 2 | g.113132744T>G | CA348296121 | IL1RN | c.305T>G (p.Phe102Cys) c.*177T>G (n.*177T>G) n.352T>G c.407T>G (p.Phe136Cys) c.416T>G (p.Phe139Cys) c.353T>G (p.Phe118Cys) | |
| 2 | g.113132745T>A | CA348296122 | IL1RN | c.306T>A (p.Phe102Leu) c.*178T>A (n.*178T>A) n.353T>A c.408T>A (p.Phe136Leu) c.417T>A (p.Phe139Leu) c.354T>A (p.Phe118Leu) | |
| 2 | g.113132745T>C | CA428554474 | IL1RN | c.306T>C (p.Phe102=) c.*178T>C (n.*178T>C) n.353T>C c.408T>C (p.Phe136=) c.417T>C (p.Phe139=) c.354T>C (p.Phe118=) | gnomAD v4 |
| 2 | g.113132745T>G | CA348296123 | IL1RN | c.306T>G (p.Phe102Leu) c.*178T>G (n.*178T>G) n.353T>G c.408T>G (p.Phe136Leu) c.417T>G (p.Phe139Leu) c.354T>G (p.Phe118Leu) | gnomAD v4 |
| 2 | g.113132746G>A | CA348296124 | IL1RN | c.307G>A (p.Glu103Lys) c.*179G>A (n.*179G>A) n.354G>A c.409G>A (p.Glu137Lys) c.418G>A (p.Glu140Lys) c.355G>A (p.Glu119Lys) | gnomAD v4 |
| 2 | g.113132746G>C | CA348296125 | IL1RN | c.307G>C (p.Glu103Gln) c.*179G>C (n.*179G>C) n.354G>C c.409G>C (p.Glu137Gln) c.418G>C (p.Glu140Gln) c.355G>C (p.Glu119Gln) | |
| 2 | g.113132746G>T | CA348296126 | IL1RN | c.307G>T (p.Glu103Ter) c.*179G>T (n.*179G>T) n.354G>T c.409G>T (p.Glu137Ter) c.418G>T (p.Glu140Ter) c.355G>T (p.Glu119Ter) | |
| 2 | g.113132747A= | CA1280073331 | IL1RN | c.308A= (p.Glu103=) c.*180A= (n.*180A=) n.355A= c.410A= (p.Glu137=) c.419A= (p.Glu140=) c.356A= (p.Glu119=) | |
| 2 | g.113132747A>C | CA348296127 | IL1RN | c.308A>C (p.Glu103Ala) c.*180A>C (n.*180A>C) n.355A>C c.410A>C (p.Glu137Ala) c.419A>C (p.Glu140Ala) c.356A>C (p.Glu119Ala) | |
| 2 | g.113132747A>G | CA348296129 | IL1RN | c.308A>G (p.Glu103Gly) c.*180A>G (n.*180A>G) n.355A>G c.410A>G (p.Glu137Gly) c.419A>G (p.Glu140Gly) c.356A>G (p.Glu119Gly) | |
| 2 | g.113132747A>T | CA348296128 | IL1RN | c.308A>T (p.Glu103Val) c.*180A>T (n.*180A>T) n.355A>T c.410A>T (p.Glu137Val) c.419A>T (p.Glu140Val) c.356A>T (p.Glu119Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.113132748G>A | CA428554480 | IL1RN | c.309G>A (p.Glu103=) c.*181G>A (n.*181G>A) n.356G>A c.411G>A (p.Glu137=) c.420G>A (p.Glu140=) c.357G>A (p.Glu119=) | |
| 2 | g.113132748G>C | CA348296130 | IL1RN | c.309G>C (p.Glu103Asp) c.*181G>C (n.*181G>C) n.356G>C c.411G>C (p.Glu137Asp) c.420G>C (p.Glu140Asp) c.357G>C (p.Glu119Asp) | |
| 2 | g.113132748G>T | CA348296131 | IL1RN | c.309G>T (p.Glu103Asp) c.*181G>T (n.*181G>T) n.356G>T c.411G>T (p.Glu137Asp) c.420G>T (p.Glu140Asp) c.357G>T (p.Glu119Asp) | |
| 2 | g.113132749T>A | CA348296132 | IL1RN | c.310T>A (p.Ser104Thr) c.*182T>A (n.*182T>A) n.357T>A c.412T>A (p.Ser138Thr) c.421T>A (p.Ser141Thr) c.358T>A (p.Ser120Thr) | |
| 2 | g.113132749T>C | CA348296133 | IL1RN | c.310T>C (p.Ser104Pro) c.*182T>C (n.*182T>C) n.357T>C c.412T>C (p.Ser138Pro) c.421T>C (p.Ser141Pro) c.358T>C (p.Ser120Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132749T>G | CA348296134 | IL1RN | c.310T>G (p.Ser104Ala) c.*182T>G (n.*182T>G) n.357T>G c.412T>G (p.Ser138Ala) c.421T>G (p.Ser141Ala) c.358T>G (p.Ser120Ala) | dbSNP gnomAD v4 |
| 2 | g.113132749T= | CA1280073332 | IL1RN | c.310T= (p.Ser104=) c.*182T= (n.*182T=) n.357T= c.412T= (p.Ser138=) c.421T= (p.Ser141=) c.358T= (p.Ser120=) | |
| 2 | g.113132750C>A | CA348296135 | IL1RN | c.311C>A (p.Ser104Tyr) c.*183C>A (n.*183C>A) n.358C>A c.413C>A (p.Ser138Tyr) c.422C>A (p.Ser141Tyr) c.359C>A (p.Ser120Tyr) | |
| 2 | g.113132750C>G | CA348296136 | IL1RN | c.311C>G (p.Ser104Cys) c.*183C>G (n.*183C>G) n.358C>G c.413C>G (p.Ser138Cys) c.422C>G (p.Ser141Cys) c.359C>G (p.Ser120Cys) | |
| 2 | g.113132750C>T | CA348296137 | IL1RN | c.311C>T (p.Ser104Phe) c.*183C>T (n.*183C>T) n.358C>T c.413C>T (p.Ser138Phe) c.422C>T (p.Ser141Phe) c.359C>T (p.Ser120Phe) | |
| 2 | g.113132751T>A | CA428554483 | IL1RN | c.312T>A (p.Ser104=) c.*184T>A (n.*184T>A) n.359T>A c.414T>A (p.Ser138=) c.423T>A (p.Ser141=) c.360T>A (p.Ser120=) | |
| 2 | g.113132751T>C | CA1838894 | IL1RN | c.312T>C (p.Ser104=) c.*184T>C (n.*184T>C) n.359T>C c.414T>C (p.Ser138=) c.423T>C (p.Ser141=) c.360T>C (p.Ser120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132751T>G | CA428554484 | IL1RN | c.312T>G (p.Ser104=) c.*184T>G (n.*184T>G) n.359T>G c.414T>G (p.Ser138=) c.423T>G (p.Ser141=) c.360T>G (p.Ser120=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132751T= | CA1280073333 | IL1RN | c.312T= (p.Ser104=) c.*184T= (n.*184T=) n.359T= c.414T= (p.Ser138=) c.423T= (p.Ser141=) c.360T= (p.Ser120=) | |
| 2 | g.113132752G>A | CA348296140 | IL1RN | c.313G>A (p.Ala105Thr) c.*185G>A (n.*185G>A) n.360G>A c.415G>A (p.Ala139Thr) c.424G>A (p.Ala142Thr) c.361G>A (p.Ala121Thr) | dbSNP |
| 2 | g.113132752G>C | CA348296139 | IL1RN | c.313G>C (p.Ala105Pro) c.*185G>C (n.*185G>C) n.360G>C c.415G>C (p.Ala139Pro) c.424G>C (p.Ala142Pro) c.361G>C (p.Ala121Pro) | |
| 2 | g.113132752G>T | CA348296138 | IL1RN | c.313G>T (p.Ala105Ser) c.*185G>T (n.*185G>T) n.360G>T c.415G>T (p.Ala139Ser) c.424G>T (p.Ala142Ser) c.361G>T (p.Ala121Ser) | |
| 2 | g.113132753C>A | CA348296141 | IL1RN | c.314C>A (p.Ala105Asp) c.*186C>A (n.*186C>A) n.361C>A c.416C>A (p.Ala139Asp) c.425C>A (p.Ala142Asp) c.362C>A (p.Ala121Asp) | COSMIC COSMIC |
| 2 | g.113132753C>G | CA348296142 | IL1RN | c.314C>G (p.Ala105Gly) c.*186C>G (n.*186C>G) n.361C>G c.416C>G (p.Ala139Gly) c.425C>G (p.Ala142Gly) c.362C>G (p.Ala121Gly) | |
| 2 | g.113132753C>T | CA348296143 | IL1RN | c.314C>T (p.Ala105Val) c.*186C>T (n.*186C>T) n.361C>T c.416C>T (p.Ala139Val) c.425C>T (p.Ala142Val) c.362C>T (p.Ala121Val) | |
| 2 | g.113132754C>A | CA428554490 | IL1RN | c.315C>A (p.Ala105=) c.*187C>A (n.*187C>A) n.362C>A c.417C>A (p.Ala139=) c.426C>A (p.Ala142=) c.363C>A (p.Ala121=) | |
| 2 | g.113132754C= | CA1280073334 | IL1RN | c.315C= (p.Ala105=) c.*187C= (n.*187C=) n.362C= c.417C= (p.Ala139=) c.426C= (p.Ala142=) c.363C= (p.Ala121=) | |
| 2 | g.113132754C>G | CA428554491 | IL1RN | c.315C>G (p.Ala105=) c.*187C>G (n.*187C>G) n.362C>G c.417C>G (p.Ala139=) c.426C>G (p.Ala142=) c.363C>G (p.Ala121=) | |
| 2 | g.113132754C>T | CA1838895 | IL1RN | c.315C>T (p.Ala105=) c.*187C>T (n.*187C>T) n.362C>T c.417C>T (p.Ala139=) c.426C>T (p.Ala142=) c.363C>T (p.Ala121=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132755G>A | CA1838896 | IL1RN | c.316G>A (p.Ala106Thr) c.*188G>A (n.*188G>A) n.363G>A c.418G>A (p.Ala140Thr) c.427G>A (p.Ala143Thr) c.364G>A (p.Ala122Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132755G>C | CA348296144 | IL1RN | c.316G>C (p.Ala106Pro) c.*188G>C (n.*188G>C) n.363G>C c.418G>C (p.Ala140Pro) c.427G>C (p.Ala143Pro) c.364G>C (p.Ala122Pro) | |
| 2 | g.113132755G= | CA1280073335 | IL1RN | c.316G= (p.Ala106=) c.*188G= (n.*188G=) n.363G= c.418G= (p.Ala140=) c.427G= (p.Ala143=) c.364G= (p.Ala122=) | |
| 2 | g.113132755G>T | CA348296145 | IL1RN | c.316G>T (p.Ala106Ser) c.*188G>T (n.*188G>T) n.363G>T c.418G>T (p.Ala140Ser) c.427G>T (p.Ala143Ser) c.364G>T (p.Ala122Ser) | gnomAD v4 |
| 2 | g.113132756C>A | CA348296146 | IL1RN | c.317C>A (p.Ala106Asp) c.*189C>A (n.*189C>A) n.364C>A c.419C>A (p.Ala140Asp) c.428C>A (p.Ala143Asp) c.365C>A (p.Ala122Asp) | |
| 2 | g.113132756C= | CA1280073336 | IL1RN | c.317C= (p.Ala106=) c.*189C= (n.*189C=) n.364C= c.419C= (p.Ala140=) c.428C= (p.Ala143=) c.365C= (p.Ala122=) | |
| 2 | g.113132756C>G | CA348296147 | IL1RN | c.317C>G (p.Ala106Gly) c.*189C>G (n.*189C>G) n.364C>G c.419C>G (p.Ala140Gly) c.428C>G (p.Ala143Gly) c.365C>G (p.Ala122Gly) | |
| 2 | g.113132756C>T | CA348296148 | IL1RN | c.317C>T (p.Ala106Val) c.*189C>T (n.*189C>T) n.364C>T c.419C>T (p.Ala140Val) c.428C>T (p.Ala143Val) c.365C>T (p.Ala122Val) | dbSNP gnomAD v4 |
| 2 | g.113132757C>A | CA428554496 | IL1RN | c.318C>A (p.Ala106=) c.*190C>A (n.*190C>A) n.365C>A c.420C>A (p.Ala140=) c.429C>A (p.Ala143=) c.366C>A (p.Ala122=) | |
| 2 | g.113132757C>G | CA428554498 | IL1RN | c.318C>G (p.Ala106=) c.*190C>G (n.*190C>G) n.365C>G c.420C>G (p.Ala140=) c.429C>G (p.Ala143=) c.366C>G (p.Ala122=) | |
| 2 | g.113132757C>T | CA428554501 | IL1RN | c.318C>T (p.Ala106=) c.*190C>T (n.*190C>T) n.365C>T c.420C>T (p.Ala140=) c.429C>T (p.Ala143=) c.366C>T (p.Ala122=) | gnomAD v4 |
| 2 | g.113132758T>A | CA348296149 | IL1RN | c.319T>A (p.Cys107Ser) c.*191T>A (n.*191T>A) n.366T>A c.421T>A (p.Cys141Ser) c.430T>A (p.Cys144Ser) c.367T>A (p.Cys123Ser) | |
| 2 | g.113132758T>C | CA348296150 | IL1RN | c.319T>C (p.Cys107Arg) c.*191T>C (n.*191T>C) n.366T>C c.421T>C (p.Cys141Arg) c.430T>C (p.Cys144Arg) c.367T>C (p.Cys123Arg) | |
| 2 | g.113132758T>G | CA348296151 | IL1RN | c.319T>G (p.Cys107Gly) c.*191T>G (n.*191T>G) n.366T>G c.421T>G (p.Cys141Gly) c.430T>G (p.Cys144Gly) c.367T>G (p.Cys123Gly) | |
| 2 | g.113132759G>A | CA348296152 | IL1RN | c.320G>A (p.Cys107Tyr) c.*192G>A (n.*192G>A) n.367G>A c.422G>A (p.Cys141Tyr) c.431G>A (p.Cys144Tyr) c.368G>A (p.Cys123Tyr) | |
| 2 | g.113132759G>C | CA348296154 | IL1RN | c.320G>C (p.Cys107Ser) c.*192G>C (n.*192G>C) n.367G>C c.422G>C (p.Cys141Ser) c.431G>C (p.Cys144Ser) c.368G>C (p.Cys123Ser) | ClinVar dbSNP |
| 2 | g.113132759G>T | CA348296153 | IL1RN | c.320G>T (p.Cys107Phe) c.*192G>T (n.*192G>T) n.367G>T c.422G>T (p.Cys141Phe) c.431G>T (p.Cys144Phe) c.368G>T (p.Cys123Phe) | |
| 2 | g.113132760C>A | CA348296155 | IL1RN | c.321C>A (p.Cys107Ter) c.*193C>A (n.*193C>A) n.368C>A c.423C>A (p.Cys141Ter) c.432C>A (p.Cys144Ter) c.369C>A (p.Cys123Ter) | |
| 2 | g.113132760C= | CA1280073337 | IL1RN | c.321C= (p.Cys107=) c.*193C= (n.*193C=) n.368C= c.423C= (p.Cys141=) c.432C= (p.Cys144=) c.369C= (p.Cys123=) | |
| 2 | g.113132760C>G | CA348296156 | IL1RN | c.321C>G (p.Cys107Trp) c.*193C>G (n.*193C>G) n.368C>G c.423C>G (p.Cys141Trp) c.432C>G (p.Cys144Trp) c.369C>G (p.Cys123Trp) | |
| 2 | g.113132760C>T | CA1838897 | IL1RN | c.321C>T (p.Cys107=) c.*193C>T (n.*193C>T) n.368C>T c.423C>T (p.Cys141=) c.432C>T (p.Cys144=) c.369C>T (p.Cys123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132761C>A | CA53697741 | IL1RN | c.322C>A (p.Pro108Thr) c.*194C>A (n.*194C>A) n.369C>A c.424C>A (p.Pro142Thr) c.433C>A (p.Pro145Thr) c.370C>A (p.Pro124Thr) | dbSNP gnomAD v4 |
| 2 | g.113132761C= | CA1280073338 | IL1RN | c.322C= (p.Pro108=) c.*194C= (n.*194C=) n.369C= c.424C= (p.Pro142=) c.433C= (p.Pro145=) c.370C= (p.Pro124=) | |
| 2 | g.113132761C>G | CA348296157 | IL1RN | c.322C>G (p.Pro108Ala) c.*194C>G (n.*194C>G) n.369C>G c.424C>G (p.Pro142Ala) c.433C>G (p.Pro145Ala) c.370C>G (p.Pro124Ala) | |
| 2 | g.113132761C>T | CA348296158 | IL1RN | c.322C>T (p.Pro108Ser) c.*194C>T (n.*194C>T) n.369C>T c.424C>T (p.Pro142Ser) c.433C>T (p.Pro145Ser) c.370C>T (p.Pro124Ser) | |
| 2 | g.113132762C>A | CA348296159 | IL1RN | c.323C>A (p.Pro108His) c.*195C>A (n.*195C>A) n.370C>A c.425C>A (p.Pro142His) c.434C>A (p.Pro145His) c.371C>A (p.Pro124His) | |
| 2 | g.113132762C>G | CA348296160 | IL1RN | c.323C>G (p.Pro108Arg) c.*195C>G (n.*195C>G) n.370C>G c.425C>G (p.Pro142Arg) c.434C>G (p.Pro145Arg) c.371C>G (p.Pro124Arg) | |
| 2 | g.113132762C>T | CA348296161 | IL1RN | c.323C>T (p.Pro108Leu) c.*195C>T (n.*195C>T) n.370C>T c.425C>T (p.Pro142Leu) c.434C>T (p.Pro145Leu) c.371C>T (p.Pro124Leu) | |
| 2 | g.113132763C>A | CA428554507 | IL1RN | c.324C>A (p.Pro108=) c.*196C>A (n.*196C>A) n.371C>A c.426C>A (p.Pro142=) c.435C>A (p.Pro145=) c.372C>A (p.Pro124=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132763C= | CA1280073339 | IL1RN | c.324C= (p.Pro108=) c.*196C= (n.*196C=) n.371C= c.426C= (p.Pro142=) c.435C= (p.Pro145=) c.372C= (p.Pro124=) | |
| 2 | g.113132763C>G | CA428554508 | IL1RN | c.324C>G (p.Pro108=) c.*196C>G (n.*196C>G) n.371C>G c.426C>G (p.Pro142=) c.435C>G (p.Pro145=) c.372C>G (p.Pro124=) | ClinVar dbSNP |
| 2 | g.113132763C>T | CA1838898 | IL1RN | c.324C>T (p.Pro108=) c.*196C>T (n.*196C>T) n.371C>T c.426C>T (p.Pro142=) c.435C>T (p.Pro145=) c.372C>T (p.Pro124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132764G>A | CA1838899 | IL1RN | c.325G>A (p.Gly109Ser) c.*197G>A (n.*197G>A) n.372G>A c.427G>A (p.Gly143Ser) c.436G>A (p.Gly146Ser) c.373G>A (p.Gly125Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132764G>C | CA348296163 | IL1RN | c.325G>C (p.Gly109Arg) c.*197G>C (n.*197G>C) n.372G>C c.427G>C (p.Gly143Arg) c.436G>C (p.Gly146Arg) c.373G>C (p.Gly125Arg) | |
| 2 | g.113132764G= | CA1280073340 | IL1RN | c.325G= (p.Gly109=) c.*197G= (n.*197G=) n.372G= c.427G= (p.Gly143=) c.436G= (p.Gly146=) c.373G= (p.Gly125=) | |
| 2 | g.113132764G>T | CA348296162 | IL1RN | c.325G>T (p.Gly109Cys) c.*197G>T (n.*197G>T) n.372G>T c.427G>T (p.Gly143Cys) c.436G>T (p.Gly146Cys) c.373G>T (p.Gly125Cys) | gnomAD v4 |
| 2 | g.113132765G>A | CA348296164 | IL1RN | c.326G>A (p.Gly109Asp) c.*198G>A (n.*198G>A) n.373G>A c.428G>A (p.Gly143Asp) c.437G>A (p.Gly146Asp) c.374G>A (p.Gly125Asp) | |
| 2 | g.113132765G>C | CA348296166 | IL1RN | c.326G>C (p.Gly109Ala) c.*198G>C (n.*198G>C) n.373G>C c.428G>C (p.Gly143Ala) c.437G>C (p.Gly146Ala) c.374G>C (p.Gly125Ala) | |
| 2 | g.113132765G>T | CA348296165 | IL1RN | c.326G>T (p.Gly109Val) c.*198G>T (n.*198G>T) n.373G>T c.428G>T (p.Gly143Val) c.437G>T (p.Gly146Val) c.374G>T (p.Gly125Val) | |
| 2 | g.113132766T>A | CA428554510 | IL1RN | c.327T>A (p.Gly109=) c.*199T>A (n.*199T>A) n.374T>A c.429T>A (p.Gly143=) c.438T>A (p.Gly146=) c.375T>A (p.Gly125=) | |
| 2 | g.113132766T>C | CA1838900 | IL1RN | c.327T>C (p.Gly109=) c.*199T>C (n.*199T>C) n.374T>C c.429T>C (p.Gly143=) c.438T>C (p.Gly146=) c.375T>C (p.Gly125=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132766T>G | CA428554512 | IL1RN | c.327T>G (p.Gly109=) c.*199T>G (n.*199T>G) n.374T>G c.429T>G (p.Gly143=) c.438T>G (p.Gly146=) c.375T>G (p.Gly125=) | gnomAD v4 |
| 2 | g.113132766T= | CA1280073341 | IL1RN | c.327T= (p.Gly109=) c.*199T= (n.*199T=) n.374T= c.429T= (p.Gly143=) c.438T= (p.Gly146=) c.375T= (p.Gly125=) | |
| 2 | g.113132767T>A | CA348296167 | IL1RN | c.328T>A (p.Trp110Arg) c.*200T>A (n.*200T>A) n.375T>A c.430T>A (p.Trp144Arg) c.439T>A (p.Trp147Arg) c.376T>A (p.Trp126Arg) | |
| 2 | g.113132767T>C | CA348296168 | IL1RN | c.328T>C (p.Trp110Arg) c.*200T>C (n.*200T>C) n.375T>C c.430T>C (p.Trp144Arg) c.439T>C (p.Trp147Arg) c.376T>C (p.Trp126Arg) | gnomAD v4 |
| 2 | g.113132767T>G | CA348296169 | IL1RN | c.328T>G (p.Trp110Gly) c.*200T>G (n.*200T>G) n.375T>G c.430T>G (p.Trp144Gly) c.439T>G (p.Trp147Gly) c.376T>G (p.Trp126Gly) | |
| 2 | g.113132768G>A | CA348296170 | IL1RN | c.329G>A (p.Trp110Ter) c.*201G>A (n.*201G>A) n.376G>A c.431G>A (p.Trp144Ter) c.440G>A (p.Trp147Ter) c.377G>A (p.Trp126Ter) | |
| 2 | g.113132768G>C | CA348296171 | IL1RN | c.329G>C (p.Trp110Ser) c.*201G>C (n.*201G>C) n.376G>C c.431G>C (p.Trp144Ser) c.440G>C (p.Trp147Ser) c.377G>C (p.Trp126Ser) | |
| 2 | g.113132768G= | CA1280073342 | IL1RN | c.329G= (p.Trp110=) c.*201G= (n.*201G=) n.376G= c.431G= (p.Trp144=) c.440G= (p.Trp147=) c.377G= (p.Trp126=) | |
| 2 | g.113132768G>T | CA1838901 | IL1RN | c.329G>T (p.Trp110Leu) c.*201G>T (n.*201G>T) n.376G>T c.431G>T (p.Trp144Leu) c.440G>T (p.Trp147Leu) c.377G>T (p.Trp126Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132768_113132769insCA | CA2660765822 | IL1RN | c.329_330insCA (p.Trp110CysfsTer?) c.*201_*202insCA (n.*201_*202insCA) n.376_377insCA c.431_432insCA (p.Trp144CysfsTer?) c.440_441insCA (p.Trp147CysfsTer?) c.377_378insCA (p.Trp126CysfsTer?) | gnomAD v4 |
| 2 | g.113132769G>A | CA348296172 | IL1RN | c.330G>A (p.Trp110Ter) c.*202G>A (n.*202G>A) n.377G>A c.432G>A (p.Trp144Ter) c.441G>A (p.Trp147Ter) c.378G>A (p.Trp126Ter) | |
| 2 | g.113132769G>C | CA348296173 | IL1RN | c.330G>C (p.Trp110Cys) c.*202G>C (n.*202G>C) n.377G>C c.432G>C (p.Trp144Cys) c.441G>C (p.Trp147Cys) c.378G>C (p.Trp126Cys) | |
| 2 | g.113132769G>T | CA348296174 | IL1RN | c.330G>T (p.Trp110Cys) c.*202G>T (n.*202G>T) n.377G>T c.432G>T (p.Trp144Cys) c.441G>T (p.Trp147Cys) c.378G>T (p.Trp126Cys) | gnomAD v4 |
| 2 | g.113132769_113132770insAGTC | CA2660765823 | IL1RN | c.330_331insAGTC (p.Phe111SerfsTer10) c.*202_*203insAGTC (n.*202_*203insAGTC) n.377_378insAGTC c.432_433insAGTC (p.Phe145SerfsTer10) c.441_442insAGTC (p.Phe148SerfsTer10) c.378_379insAGTC (p.Phe127SerfsTer10) | gnomAD v4 |
| 2 | g.113132770T>A | CA348296176 | IL1RN | c.331T>A (p.Phe111Ile) c.*203T>A (n.*203T>A) n.378T>A c.433T>A (p.Phe145Ile) c.442T>A (p.Phe148Ile) c.379T>A (p.Phe127Ile) | |
| 2 | g.113132770T>C | CA348296175 | IL1RN | c.331T>C (p.Phe111Leu) c.*203T>C (n.*203T>C) n.378T>C c.433T>C (p.Phe145Leu) c.442T>C (p.Phe148Leu) c.379T>C (p.Phe127Leu) | |
| 2 | g.113132770T>G | CA53697782 | IL1RN | c.331T>G (p.Phe111Val) c.*203T>G (n.*203T>G) n.378T>G c.433T>G (p.Phe145Val) c.442T>G (p.Phe148Val) c.379T>G (p.Phe127Val) | dbSNP COSMIC |
| 2 | g.113132770T= | CA1280073343 | IL1RN | c.331T= (p.Phe111=) c.*203T= (n.*203T=) n.378T= c.433T= (p.Phe145=) c.442T= (p.Phe148=) c.379T= (p.Phe127=) | |
| 2 | g.113132771T>A | CA348296177 | IL1RN | c.332T>A (p.Phe111Tyr) c.*204T>A (n.*204T>A) n.379T>A c.434T>A (p.Phe145Tyr) c.443T>A (p.Phe148Tyr) c.380T>A (p.Phe127Tyr) | |
| 2 | g.113132771T>C | CA348296178 | IL1RN | c.332T>C (p.Phe111Ser) c.*204T>C (n.*204T>C) n.379T>C c.434T>C (p.Phe145Ser) c.443T>C (p.Phe148Ser) c.380T>C (p.Phe127Ser) | |
| 2 | g.113132771T>G | CA348296179 | IL1RN | c.332T>G (p.Phe111Cys) c.*204T>G (n.*204T>G) n.379T>G c.434T>G (p.Phe145Cys) c.443T>G (p.Phe148Cys) c.380T>G (p.Phe127Cys) | gnomAD v4 |
| 2 | g.113132772C>A | CA348296180 | IL1RN | c.333C>A (p.Phe111Leu) c.*205C>A (n.*205C>A) n.380C>A c.435C>A (p.Phe145Leu) c.444C>A (p.Phe148Leu) c.381C>A (p.Phe127Leu) | |
| 2 | g.113132772C>G | CA348296181 | IL1RN | c.333C>G (p.Phe111Leu) c.*205C>G (n.*205C>G) n.380C>G c.435C>G (p.Phe145Leu) c.444C>G (p.Phe148Leu) c.381C>G (p.Phe127Leu) | |
| 2 | g.113132772C>T | CA428554520 | IL1RN | c.333C>T (p.Phe111=) c.*205C>T (n.*205C>T) n.380C>T c.435C>T (p.Phe145=) c.444C>T (p.Phe148=) c.381C>T (p.Phe127=) | COSMIC COSMIC COSMIC |
| 2 | g.113132773C>A | CA348296182 | IL1RN | c.334C>A (p.Leu112Ile) c.*206C>A (n.*206C>A) n.381C>A c.436C>A (p.Leu146Ile) c.445C>A (p.Leu149Ile) c.382C>A (p.Leu128Ile) | |
| 2 | g.113132773C>G | CA348296183 | IL1RN | c.334C>G (p.Leu112Val) c.*206C>G (n.*206C>G) n.381C>G c.436C>G (p.Leu146Val) c.445C>G (p.Leu149Val) c.382C>G (p.Leu128Val) | |
| 2 | g.113132773C>T | CA348296184 | IL1RN | c.334C>T (p.Leu112Phe) c.*206C>T (n.*206C>T) n.381C>T c.436C>T (p.Leu146Phe) c.445C>T (p.Leu149Phe) c.382C>T (p.Leu128Phe) | |
| 2 | g.113132774T>A | CA348296185 | IL1RN | c.335T>A (p.Leu112His) c.*207T>A (n.*207T>A) n.382T>A c.437T>A (p.Leu146His) c.446T>A (p.Leu149His) c.383T>A (p.Leu128His) | |
| 2 | g.113132774T>C | CA348296186 | IL1RN | c.335T>C (p.Leu112Pro) c.*207T>C (n.*207T>C) n.382T>C c.437T>C (p.Leu146Pro) c.446T>C (p.Leu149Pro) c.383T>C (p.Leu128Pro) | |
| 2 | g.113132774T>G | CA348296187 | IL1RN | c.335T>G (p.Leu112Arg) c.*207T>G (n.*207T>G) n.382T>G c.437T>G (p.Leu146Arg) c.446T>G (p.Leu149Arg) c.383T>G (p.Leu128Arg) | |
| 2 | g.113132775C>A | CA428554523 | IL1RN | c.336C>A (p.Leu112=) c.*208C>A (n.*208C>A) n.383C>A c.438C>A (p.Leu146=) c.447C>A (p.Leu149=) c.384C>A (p.Leu128=) | |
| 2 | g.113132775C>G | CA428554524 | IL1RN | c.336C>G (p.Leu112=) c.*208C>G (n.*208C>G) n.383C>G c.438C>G (p.Leu146=) c.447C>G (p.Leu149=) c.384C>G (p.Leu128=) | |
| 2 | g.113132775C>T | CA428554522 | IL1RN | c.336C>T (p.Leu112=) c.*208C>T (n.*208C>T) n.383C>T c.438C>T (p.Leu146=) c.447C>T (p.Leu149=) c.384C>T (p.Leu128=) | |
| 2 | g.113132776T>A | CA348296189 | IL1RN | c.337T>A (p.Cys113Ser) c.*209T>A (n.*209T>A) n.384T>A c.439T>A (p.Cys147Ser) c.448T>A (p.Cys150Ser) c.385T>A (p.Cys129Ser) | |
| 2 | g.113132776T>C | CA348296190 | IL1RN | c.337T>C (p.Cys113Arg) c.*209T>C (n.*209T>C) n.384T>C c.439T>C (p.Cys147Arg) c.448T>C (p.Cys150Arg) c.385T>C (p.Cys129Arg) | |
| 2 | g.113132776T>G | CA348296188 | IL1RN | c.337T>G (p.Cys113Gly) c.*209T>G (n.*209T>G) n.384T>G c.439T>G (p.Cys147Gly) c.448T>G (p.Cys150Gly) c.385T>G (p.Cys129Gly) | |
| 2 | g.113132777G>A | CA348296191 | IL1RN | c.338G>A (p.Cys113Tyr) c.*210G>A (n.*210G>A) n.385G>A c.440G>A (p.Cys147Tyr) c.449G>A (p.Cys150Tyr) c.386G>A (p.Cys129Tyr) | |
| 2 | g.113132777G>C | CA348296192 | IL1RN | c.338G>C (p.Cys113Ser) c.*210G>C (n.*210G>C) n.385G>C c.440G>C (p.Cys147Ser) c.449G>C (p.Cys150Ser) c.386G>C (p.Cys129Ser) | |
| 2 | g.113132777G>T | CA348296193 | IL1RN | c.338G>T (p.Cys113Phe) c.*210G>T (n.*210G>T) n.385G>T c.440G>T (p.Cys147Phe) c.449G>T (p.Cys150Phe) c.386G>T (p.Cys129Phe) | |
| 2 | g.113132778C>A | CA348296194 | IL1RN | c.339C>A (p.Cys113Ter) c.*211C>A (n.*211C>A) n.386C>A c.441C>A (p.Cys147Ter) c.450C>A (p.Cys150Ter) c.387C>A (p.Cys129Ter) | |
| 2 | g.113132778C>G | CA348296195 | IL1RN | c.339C>G (p.Cys113Trp) c.*211C>G (n.*211C>G) n.386C>G c.441C>G (p.Cys147Trp) c.450C>G (p.Cys150Trp) c.387C>G (p.Cys129Trp) | |
| 2 | g.113132778C>T | CA428554530 | IL1RN | c.339C>T (p.Cys113=) c.*211C>T (n.*211C>T) n.386C>T c.441C>T (p.Cys147=) c.450C>T (p.Cys150=) c.387C>T (p.Cys129=) | gnomAD v4 |
| 2 | g.113132779A>C | CA348296196 | IL1RN | c.340A>C (p.Thr114Pro) c.*212A>C (n.*212A>C) n.387A>C c.442A>C (p.Thr148Pro) c.451A>C (p.Thr151Pro) c.388A>C (p.Thr130Pro) | |
| 2 | g.113132779A>G | CA348296197 | IL1RN | c.340A>G (p.Thr114Ala) c.*212A>G (n.*212A>G) n.387A>G c.442A>G (p.Thr148Ala) c.451A>G (p.Thr151Ala) c.388A>G (p.Thr130Ala) | |
| 2 | g.113132779A>T | CA348296198 | IL1RN | c.340A>T (p.Thr114Ser) c.*212A>T (n.*212A>T) n.387A>T c.442A>T (p.Thr148Ser) c.451A>T (p.Thr151Ser) c.388A>T (p.Thr130Ser) | |
| 2 | g.113132780C>A | CA348296199 | IL1RN | c.341C>A (p.Thr114Lys) c.*213C>A (n.*213C>A) n.388C>A c.443C>A (p.Thr148Lys) c.452C>A (p.Thr151Lys) c.389C>A (p.Thr130Lys) | |
| 2 | g.113132780C>G | CA348296200 | IL1RN | c.341C>G (p.Thr114Arg) c.*213C>G (n.*213C>G) n.388C>G c.443C>G (p.Thr148Arg) c.452C>G (p.Thr151Arg) c.389C>G (p.Thr130Arg) | |
| 2 | g.113132780C>T | CA348296201 | IL1RN | c.341C>T (p.Thr114Ile) c.*213C>T (n.*213C>T) n.388C>T c.443C>T (p.Thr148Ile) c.452C>T (p.Thr151Ile) c.389C>T (p.Thr130Ile) | |
| 2 | g.113132781A= | CA1280073344 | IL1RN | c.342A= (p.Thr114=) c.*214A= (n.*214A=) n.389A= c.444A= (p.Thr148=) c.453A= (p.Thr151=) c.390A= (p.Thr130=) | |
| 2 | g.113132781A>C | CA428554538 | IL1RN | c.342A>C (p.Thr114=) c.*214A>C (n.*214A>C) n.389A>C c.444A>C (p.Thr148=) c.453A>C (p.Thr151=) c.390A>C (p.Thr130=) | |
| 2 | g.113132781A>G | CA1838902 | IL1RN | c.342A>G (p.Thr114=) c.*214A>G (n.*214A>G) n.389A>G c.444A>G (p.Thr148=) c.453A>G (p.Thr151=) c.390A>G (p.Thr130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132781A>T | CA428554540 | IL1RN | c.342A>T (p.Thr114=) c.*214A>T (n.*214A>T) n.389A>T c.444A>T (p.Thr148=) c.453A>T (p.Thr151=) c.390A>T (p.Thr130=) | |
| 2 | g.113132782G>A | CA348296203 | IL1RN | c.343G>A (p.Ala115Thr) c.*215G>A (n.*215G>A) n.390G>A c.445G>A (p.Ala149Thr) c.454G>A (p.Ala152Thr) c.391G>A (p.Ala131Thr) | |
| 2 | g.113132782G>C | CA348296204 | IL1RN | c.343G>C (p.Ala115Pro) c.*215G>C (n.*215G>C) n.390G>C c.445G>C (p.Ala149Pro) c.454G>C (p.Ala152Pro) c.391G>C (p.Ala131Pro) | |
| 2 | g.113132782G>T | CA348296202 | IL1RN | c.343G>T (p.Ala115Ser) c.*215G>T (n.*215G>T) n.390G>T c.445G>T (p.Ala149Ser) c.454G>T (p.Ala152Ser) c.391G>T (p.Ala131Ser) | |
| 2 | g.113132783C>A | CA348296205 | IL1RN | c.344C>A (p.Ala115Glu) c.*216C>A (n.*216C>A) n.391C>A c.446C>A (p.Ala149Glu) c.455C>A (p.Ala152Glu) c.392C>A (p.Ala131Glu) | |
| 2 | g.113132783C= | CA1280073345 | IL1RN | c.344C= (p.Ala115=) c.*216C= (n.*216C=) n.391C= c.446C= (p.Ala149=) c.455C= (p.Ala152=) c.392C= (p.Ala131=) | |
| 2 | g.113132783C>G | CA348296206 | IL1RN | c.344C>G (p.Ala115Gly) c.*216C>G (n.*216C>G) n.391C>G c.446C>G (p.Ala149Gly) c.455C>G (p.Ala152Gly) c.392C>G (p.Ala131Gly) | |
| 2 | g.113132783C>T | CA1838903 | IL1RN | c.344C>T (p.Ala115Val) c.*216C>T (n.*216C>T) n.391C>T c.446C>T (p.Ala149Val) c.455C>T (p.Ala152Val) c.392C>T (p.Ala131Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132784G>A | CA1838904 | IL1RN | c.345G>A (p.Ala115=) c.*217G>A (n.*217G>A) n.392G>A c.447G>A (p.Ala149=) c.456G>A (p.Ala152=) c.393G>A (p.Ala131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.113132784G>C | CA428554544 | IL1RN | c.345G>C (p.Ala115=) c.*217G>C (n.*217G>C) n.392G>C c.447G>C (p.Ala149=) c.456G>C (p.Ala152=) c.393G>C (p.Ala131=) | |
| 2 | g.113132784G= | CA1280073346 | IL1RN | c.345G= (p.Ala115=) c.*217G= (n.*217G=) n.392G= c.447G= (p.Ala149=) c.456G= (p.Ala152=) c.393G= (p.Ala131=) | |
| 2 | g.113132784G>T | CA428554545 | IL1RN | c.345G>T (p.Ala115=) c.*217G>T (n.*217G>T) n.392G>T c.447G>T (p.Ala149=) c.456G>T (p.Ala152=) c.393G>T (p.Ala131=) | |
| 2 | g.113132785A>C | CA348296209 | IL1RN | c.346A>C (p.Met116Leu) c.*218A>C (n.*218A>C) n.393A>C c.448A>C (p.Met150Leu) c.457A>C (p.Met153Leu) c.394A>C (p.Met132Leu) | |
| 2 | g.113132785A>G | CA348296208 | IL1RN | c.346A>G (p.Met116Val) c.*218A>G (n.*218A>G) n.393A>G c.448A>G (p.Met150Val) c.457A>G (p.Met153Val) c.394A>G (p.Met132Val) | |
| 2 | g.113132785A>T | CA348296207 | IL1RN | c.346A>T (p.Met116Leu) c.*218A>T (n.*218A>T) n.393A>T c.448A>T (p.Met150Leu) c.457A>T (p.Met153Leu) c.394A>T (p.Met132Leu) | |
| 2 | g.113132786T>A | CA348296210 | IL1RN | c.347T>A (p.Met116Lys) c.*219T>A (n.*219T>A) n.394T>A c.449T>A (p.Met150Lys) c.458T>A (p.Met153Lys) c.395T>A (p.Met132Lys) | |
| 2 | g.113132786T>C | CA1838905 | IL1RN | c.347T>C (p.Met116Thr) c.*219T>C (n.*219T>C) n.394T>C c.449T>C (p.Met150Thr) c.458T>C (p.Met153Thr) c.395T>C (p.Met132Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.113132786T>G | CA348296211 | IL1RN | c.347T>G (p.Met116Arg) c.*219T>G (n.*219T>G) n.394T>G c.449T>G (p.Met150Arg) c.458T>G (p.Met153Arg) c.395T>G (p.Met132Arg) | |
| 2 | g.113132786T= | CA1280073347 | IL1RN | c.347T= (p.Met116=) c.*219T= (n.*219T=) n.394T= c.449T= (p.Met150=) c.458T= (p.Met153=) c.395T= (p.Met132=) | |
| 2 | g.113132787G>A | CA348296212 | IL1RN | c.348G>A (p.Met116Ile) c.*220G>A (n.*220G>A) n.395G>A c.450G>A (p.Met150Ile) c.459G>A (p.Met153Ile) c.396G>A (p.Met132Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.113132787G>C | CA348296213 | IL1RN | c.348G>C (p.Met116Ile) c.*220G>C (n.*220G>C) n.395G>C c.450G>C (p.Met150Ile) c.459G>C (p.Met153Ile) c.396G>C (p.Met132Ile) | |
| 2 | g.113132787G= | CA1280073348 | IL1RN | c.348G= (p.Met116=) c.*220G= (n.*220G=) n.395G= c.450G= (p.Met150=) c.459G= (p.Met153=) c.396G= (p.Met132=) | |
| 2 | g.113132787G>T | CA348296214 | IL1RN | c.348G>T (p.Met116Ile) c.*220G>T (n.*220G>T) n.395G>T c.450G>T (p.Met150Ile) c.459G>T (p.Met153Ile) c.396G>T (p.Met132Ile) | |
| 2 | g.113132788G>A | CA348296217 | IL1RN | c.349G>A (p.Glu117Lys) c.*221G>A (n.*221G>A) n.396G>A c.451G>A (p.Glu151Lys) c.460G>A (p.Glu154Lys) c.397G>A (p.Glu133Lys) | COSMIC COSMIC COSMIC |
| 2 | g.113132788G>C | CA348296216 | IL1RN | c.349G>C (p.Glu117Gln) c.*221G>C (n.*221G>C) n.396G>C c.451G>C (p.Glu151Gln) c.460G>C (p.Glu154Gln) c.397G>C (p.Glu133Gln) | |
| 2 | g.113132788G>T | CA348296215 | IL1RN | c.349G>T (p.Glu117Ter) c.*221G>T (n.*221G>T) n.396G>T c.451G>T (p.Glu151Ter) c.460G>T (p.Glu154Ter) c.397G>T (p.Glu133Ter) | |
| 2 | g.113132789A>C | CA348296218 | IL1RN | c.350A>C (p.Glu117Ala) c.*222A>C (n.*222A>C) n.397A>C c.452A>C (p.Glu151Ala) c.461A>C (p.Glu154Ala) c.398A>C (p.Glu133Ala) | |
| 2 | g.113132789A>G | CA348296220 | IL1RN | c.350A>G (p.Glu117Gly) c.*222A>G (n.*222A>G) n.397A>G c.452A>G (p.Glu151Gly) c.461A>G (p.Glu154Gly) c.398A>G (p.Glu133Gly) | gnomAD v4 |
| 2 | g.113132789A>T | CA348296219 | IL1RN | c.350A>T (p.Glu117Val) c.*222A>T (n.*222A>T) n.397A>T c.452A>T (p.Glu151Val) c.461A>T (p.Glu154Val) c.398A>T (p.Glu133Val) | |
| 2 | g.113132790A>C | CA348296221 | IL1RN | c.351A>C (p.Glu117Asp) c.*223A>C (n.*223A>C) n.398A>C c.453A>C (p.Glu151Asp) c.462A>C (p.Glu154Asp) c.399A>C (p.Glu133Asp) | |
| 2 | g.113132790A>G | CA428554554 | IL1RN | c.351A>G (p.Glu117=) c.*223A>G (n.*223A>G) n.398A>G c.453A>G (p.Glu151=) c.462A>G (p.Glu154=) c.399A>G (p.Glu133=) | gnomAD v4 |
| 2 | g.113132790A>T | CA348296222 | IL1RN | c.351A>T (p.Glu117Asp) c.*223A>T (n.*223A>T) n.398A>T c.453A>T (p.Glu151Asp) c.462A>T (p.Glu154Asp) c.399A>T (p.Glu133Asp) | |
| 2 | g.113132791G>A | CA348296223 | IL1RN | c.352G>A (p.Ala118Thr) c.*224G>A (n.*224G>A) n.399G>A c.454G>A (p.Ala152Thr) c.463G>A (p.Ala155Thr) c.400G>A (p.Ala134Thr) | dbSNP gnomAD v4 |
| 2 | g.113132791G>C | CA348296224 | IL1RN | c.352G>C (p.Ala118Pro) c.*224G>C (n.*224G>C) n.399G>C c.454G>C (p.Ala152Pro) c.463G>C (p.Ala155Pro) c.400G>C (p.Ala134Pro) | |
| 2 | g.113132791G= | CA1280073349 | IL1RN | c.352G= (p.Ala118=) c.*224G= (n.*224G=) n.399G= c.454G= (p.Ala152=) c.463G= (p.Ala155=) c.400G= (p.Ala134=) | |
| 2 | g.113132791G>T | CA348296225 | IL1RN | c.352G>T (p.Ala118Ser) c.*224G>T (n.*224G>T) n.399G>T c.454G>T (p.Ala152Ser) c.463G>T (p.Ala155Ser) c.400G>T (p.Ala134Ser) | |
| 2 | g.113132792C>A | CA348296226 | IL1RN | c.353C>A (p.Ala118Asp) c.*225C>A (n.*225C>A) n.400C>A c.455C>A (p.Ala152Asp) c.464C>A (p.Ala155Asp) c.401C>A (p.Ala134Asp) | |
| 2 | g.113132792C>G | CA348296227 | IL1RN | c.353C>G (p.Ala118Gly) c.*225C>G (n.*225C>G) n.400C>G c.455C>G (p.Ala152Gly) c.464C>G (p.Ala155Gly) c.401C>G (p.Ala134Gly) | |
| 2 | g.113132792C>T | CA348296228 | IL1RN | c.353C>T (p.Ala118Val) c.*225C>T (n.*225C>T) n.400C>T c.455C>T (p.Ala152Val) c.464C>T (p.Ala155Val) c.401C>T (p.Ala134Val) | gnomAD v4 |
| 2 | g.113132793T>A | CA428554562 | IL1RN | c.354T>A (p.Ala118=) c.*226T>A (n.*226T>A) n.401T>A c.456T>A (p.Ala152=) c.465T>A (p.Ala155=) c.402T>A (p.Ala134=) | |
| 2 | g.113132793T>C | CA428554563 | IL1RN | c.354T>C (p.Ala118=) c.*226T>C (n.*226T>C) n.401T>C c.456T>C (p.Ala152=) c.465T>C (p.Ala155=) c.402T>C (p.Ala134=) | dbSNP |
| 2 | g.113132793T>G | CA428554564 | IL1RN | c.354T>G (p.Ala118=) c.*226T>G (n.*226T>G) n.401T>G c.456T>G (p.Ala152=) c.465T>G (p.Ala155=) c.402T>G (p.Ala134=) | |
| 2 | g.113132793T= | CA1280073350 | IL1RN | c.354T= (p.Ala118=) c.*226T= (n.*226T=) n.401T= c.456T= (p.Ala152=) c.465T= (p.Ala155=) c.402T= (p.Ala134=) | |
| 2 | g.113132794G>A | CA348296229 | IL1RN | c.355G>A (p.Asp119Asn) c.*227G>A (n.*227G>A) n.402G>A c.457G>A (p.Asp153Asn) c.466G>A (p.Asp156Asn) c.403G>A (p.Asp135Asn) | |
| 2 | g.113132794G>C | CA348296230 | IL1RN | c.355G>C (p.Asp119His) c.*227G>C (n.*227G>C) n.402G>C c.457G>C (p.Asp153His) c.466G>C (p.Asp156His) c.403G>C (p.Asp135His) | dbSNP |
| 2 | g.113132794G>T | CA348296231 | IL1RN | c.355G>T (p.Asp119Tyr) c.*227G>T (n.*227G>T) n.402G>T c.457G>T (p.Asp153Tyr) c.466G>T (p.Asp156Tyr) c.403G>T (p.Asp135Tyr) | |
| 2 | g.113132795A>C | CA348296232 | IL1RN | c.356A>C (p.Asp119Ala) c.*228A>C (n.*228A>C) n.403A>C c.458A>C (p.Asp153Ala) c.467A>C (p.Asp156Ala) c.404A>C (p.Asp135Ala) | |
| 2 | g.113132795A>G | CA348296233 | IL1RN | c.356A>G (p.Asp119Gly) c.*228A>G (n.*228A>G) n.403A>G c.458A>G (p.Asp153Gly) c.467A>G (p.Asp156Gly) c.404A>G (p.Asp135Gly) | gnomAD v4 |
| 2 | g.113132795A>T | CA348296234 | IL1RN | c.356A>T (p.Asp119Val) c.*228A>T (n.*228A>T) n.403A>T c.458A>T (p.Asp153Val) c.467A>T (p.Asp156Val) c.404A>T (p.Asp135Val) | |
| 2 | g.113132796C>A | CA348296236 | IL1RN | c.357C>A (p.Asp119Glu) c.*229C>A (n.*229C>A) n.404C>A c.459C>A (p.Asp153Glu) c.468C>A (p.Asp156Glu) c.405C>A (p.Asp135Glu) | |
| 2 | g.113132796C= | CA1280073351 | IL1RN | c.357C= (p.Asp119=) c.*229C= (n.*229C=) n.404C= c.459C= (p.Asp153=) c.468C= (p.Asp156=) c.405C= (p.Asp135=) | |
| 2 | g.113132796C>G | CA348296235 | IL1RN | c.357C>G (p.Asp119Glu) c.*229C>G (n.*229C>G) n.404C>G c.459C>G (p.Asp153Glu) c.468C>G (p.Asp156Glu) c.405C>G (p.Asp135Glu) | |
| 2 | g.113132796C>T | CA1838906 | IL1RN | c.357C>T (p.Asp119=) c.*229C>T (n.*229C>T) n.404C>T c.459C>T (p.Asp153=) c.468C>T (p.Asp156=) c.405C>T (p.Asp135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |