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Items: 1 to 20 of 456

1.

rs1487570289 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    3:190648592 (GRCh38)
    3:190366381 (GRCh37)
    Canonical SPDI:
    NC_000003.12:190648591:C:A
    Gene:
    IL1RAP (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
    Validated:
    by frequency
    MAF:
    A=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000003.12:g.190648592C>A, NC_000003.11:g.190366381C>A, NG_029105.2:g.139542C>A, NM_002182.4:c.1600C>A, NM_002182.3:c.1600C>A, NM_001167928.2:c.1600C>A, NM_001167928.1:c.1600C>A, NM_001364881.2:c.1600C>A, NM_001364881.1:c.1600C>A, NM_001167929.2:c.1600C>A, NM_001167929.1:c.1600C>A, NR_157352.2:n.1674C>A, NR_157352.1:n.1674C>A, NR_157353.2:n.1587C>A, NR_157353.1:n.1587C>A, XM_017006348.3:c.1018C>A, XM_017006348.2:c.1018C>A, XM_017006348.1:c.1018C>A, XM_047448081.1:c.1600C>A, XM_047448084.1:c.1600C>A, XM_047448082.1:c.1600C>A, XM_047448083.1:c.1600C>A, NP_002173.1:p.Pro534Thr, NP_001161400.1:p.Pro534Thr, NP_001351810.1:p.Pro534Thr, NP_001161401.1:p.Pro534Thr, XP_016861837.1:p.Pro340Thr, XP_047304037.1:p.Pro534Thr, XP_047304040.1:p.Pro534Thr, XP_047304038.1:p.Pro534Thr, XP_047304039.1:p.Pro534Thr

    2.

    rs1484070359 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      3:190645812 (GRCh38)
      3:190363601 (GRCh37)
      Canonical SPDI:
      NC_000003.12:190645811:A:G
      Gene:
      IL1RAP (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000003.12:g.190645812A>G, NC_000003.11:g.190363601A>G, NG_029105.2:g.136762A>G, NM_002182.4:c.1315A>G, NM_002182.3:c.1315A>G, NM_001167931.2:c.1315A>G, NM_001167931.1:c.1315A>G, NM_001167928.2:c.1315A>G, NM_001167928.1:c.1315A>G, NM_001364881.2:c.1315A>G, NM_001364881.1:c.1315A>G, NM_001167929.2:c.1315A>G, NM_001167929.1:c.1315A>G, NR_157352.2:n.1389A>G, NR_157352.1:n.1389A>G, NR_157353.2:n.1302A>G, NR_157353.1:n.1302A>G, NM_001364879.1:c.1315A>G, XM_017006348.3:c.733A>G, XM_017006348.2:c.733A>G, XM_017006348.1:c.733A>G, XM_047448081.1:c.1315A>G, XM_047448084.1:c.1315A>G, XM_047448082.1:c.1315A>G, XM_047448083.1:c.1315A>G, NP_002173.1:p.Ile439Val, NP_001161403.1:p.Ile439Val, NP_001161400.1:p.Ile439Val, NP_001351810.1:p.Ile439Val, NP_001161401.1:p.Ile439Val, NP_001351808.1:p.Ile439Val, XP_016861837.1:p.Ile245Val, XP_047304037.1:p.Ile439Val, XP_047304040.1:p.Ile439Val, XP_047304038.1:p.Ile439Val, XP_047304039.1:p.Ile439Val

      3.

      rs1481919436 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        3:190564339 (GRCh38)
        3:190282128 (GRCh37)
        Canonical SPDI:
        NC_000003.12:190564338:A:C
        Gene:
        IL1RAP (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant
        HGVS:
        NC_000003.12:g.190564339A>C, NC_000003.11:g.190282128A>C, NG_029105.2:g.55289A>C, NM_002182.4:c.50A>C, NM_002182.3:c.50A>C, NM_134470.4:c.50A>C, NM_134470.3:c.50A>C, NM_001167931.2:c.50A>C, NM_001167931.1:c.50A>C, NM_001167928.2:c.50A>C, NM_001167928.1:c.50A>C, NM_001364881.2:c.50A>C, NM_001364881.1:c.50A>C, NM_001167929.2:c.50A>C, NM_001167929.1:c.50A>C, NR_157352.2:n.273A>C, NR_157352.1:n.273A>C, NR_157353.2:n.186A>C, NR_157353.1:n.186A>C, NM_001364880.2:c.50A>C, NM_001364880.1:c.50A>C, NM_001167930.2:c.50A>C, NM_001167930.1:c.50A>C, NM_001364879.1:c.50A>C, XM_047448081.1:c.50A>C, XM_047448084.1:c.50A>C, XM_047448082.1:c.50A>C, XM_047448085.1:c.50A>C, XM_047448083.1:c.50A>C, NP_002173.1:p.Gln17Pro, NP_608273.1:p.Gln17Pro, NP_001161403.1:p.Gln17Pro, NP_001161400.1:p.Gln17Pro, NP_001351810.1:p.Gln17Pro, NP_001161401.1:p.Gln17Pro, NP_001351809.1:p.Gln17Pro, NP_001161402.1:p.Gln17Pro, NP_001351808.1:p.Gln17Pro, XP_047304037.1:p.Gln17Pro, XP_047304040.1:p.Gln17Pro, XP_047304038.1:p.Gln17Pro, XP_047304041.1:p.Gln17Pro, XP_047304039.1:p.Gln17Pro

        4.

        rs1480983914 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          3:190604319 (GRCh38)
          3:190322108 (GRCh37)
          Canonical SPDI:
          NC_000003.12:190604318:C:A,NC_000003.12:190604318:C:T
          Gene:
          IL1RAP (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          HGVS:
          NC_000003.12:g.190604319C>A, NC_000003.12:g.190604319C>T, NC_000003.11:g.190322108C>A, NC_000003.11:g.190322108C>T, NG_029105.2:g.95269C>A, NG_029105.2:g.95269C>T, NM_002182.4:c.256C>A, NM_002182.4:c.256C>T, NM_002182.3:c.256C>A, NM_002182.3:c.256C>T, NM_134470.4:c.256C>A, NM_134470.4:c.256C>T, NM_134470.3:c.256C>A, NM_134470.3:c.256C>T, NM_001167931.2:c.256C>A, NM_001167931.2:c.256C>T, NM_001167931.1:c.256C>A, NM_001167931.1:c.256C>T, NM_001167928.2:c.256C>A, NM_001167928.2:c.256C>T, NM_001167928.1:c.256C>A, NM_001167928.1:c.256C>T, NM_001364881.2:c.256C>A, NM_001364881.2:c.256C>T, NM_001364881.1:c.256C>A, NM_001364881.1:c.256C>T, NM_001167929.2:c.256C>A, NM_001167929.2:c.256C>T, NM_001167929.1:c.256C>A, NM_001167929.1:c.256C>T, NR_157352.2:n.479C>A, NR_157352.2:n.479C>T, NR_157352.1:n.479C>A, NR_157352.1:n.479C>T, NR_157353.2:n.392C>A, NR_157353.2:n.392C>T, NR_157353.1:n.392C>A, NR_157353.1:n.392C>T, NM_001364880.2:c.256C>A, NM_001364880.2:c.256C>T, NM_001364880.1:c.256C>A, NM_001364880.1:c.256C>T, NM_001167930.2:c.256C>A, NM_001167930.2:c.256C>T, NM_001167930.1:c.256C>A, NM_001167930.1:c.256C>T, NM_001364879.1:c.256C>A, NM_001364879.1:c.256C>T, XM_047448081.1:c.256C>A, XM_047448081.1:c.256C>T, XM_047448084.1:c.256C>A, XM_047448084.1:c.256C>T, XM_047448082.1:c.256C>A, XM_047448082.1:c.256C>T, XM_047448085.1:c.256C>A, XM_047448085.1:c.256C>T, XM_047448083.1:c.256C>A, XM_047448083.1:c.256C>T, XM_047448086.1:c.163C>A, XM_047448086.1:c.163C>T, NP_002173.1:p.Arg86Ser, NP_002173.1:p.Arg86Cys, NP_608273.1:p.Arg86Ser, NP_608273.1:p.Arg86Cys, NP_001161403.1:p.Arg86Ser, NP_001161403.1:p.Arg86Cys, NP_001161400.1:p.Arg86Ser, NP_001161400.1:p.Arg86Cys, NP_001351810.1:p.Arg86Ser, NP_001351810.1:p.Arg86Cys, NP_001161401.1:p.Arg86Ser, NP_001161401.1:p.Arg86Cys, NP_001351809.1:p.Arg86Ser, NP_001351809.1:p.Arg86Cys, NP_001161402.1:p.Arg86Ser, NP_001161402.1:p.Arg86Cys, NP_001351808.1:p.Arg86Ser, NP_001351808.1:p.Arg86Cys, XP_047304037.1:p.Arg86Ser, XP_047304037.1:p.Arg86Cys, XP_047304040.1:p.Arg86Ser, XP_047304040.1:p.Arg86Cys, XP_047304038.1:p.Arg86Ser, XP_047304038.1:p.Arg86Cys, XP_047304041.1:p.Arg86Ser, XP_047304041.1:p.Arg86Cys, XP_047304039.1:p.Arg86Ser, XP_047304039.1:p.Arg86Cys, XP_047304042.1:p.Arg55Ser, XP_047304042.1:p.Arg55Cys

          5.

          rs1478516899 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            3:190648613 (GRCh38)
            3:190366402 (GRCh37)
            Canonical SPDI:
            NC_000003.12:190648612:C:A
            Gene:
            IL1RAP (Varview)
            Functional Consequence:
            coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000012/3 (GnomAD_exomes)
            HGVS:
            NC_000003.12:g.190648613C>A, NC_000003.11:g.190366402C>A, NG_029105.2:g.139563C>A, NM_002182.4:c.1621C>A, NM_002182.3:c.1621C>A, NM_001167928.2:c.1621C>A, NM_001167928.1:c.1621C>A, NM_001364881.2:c.1621C>A, NM_001364881.1:c.1621C>A, NM_001167929.2:c.1621C>A, NM_001167929.1:c.1621C>A, NR_157352.2:n.1695C>A, NR_157352.1:n.1695C>A, NR_157353.2:n.1608C>A, NR_157353.1:n.1608C>A, XM_017006348.3:c.1039C>A, XM_017006348.2:c.1039C>A, XM_017006348.1:c.1039C>A, XM_047448081.1:c.1621C>A, XM_047448084.1:c.1621C>A, XM_047448082.1:c.1621C>A, XM_047448083.1:c.1621C>A, NP_002173.1:p.Gln541Lys, NP_001161400.1:p.Gln541Lys, NP_001351810.1:p.Gln541Lys, NP_001161401.1:p.Gln541Lys, XP_016861837.1:p.Gln347Lys, XP_047304037.1:p.Gln541Lys, XP_047304040.1:p.Gln541Lys, XP_047304038.1:p.Gln541Lys, XP_047304039.1:p.Gln541Lys

            6.

            rs1478130316 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              3:190648691 (GRCh38)
              3:190366480 (GRCh37)
              Canonical SPDI:
              NC_000003.12:190648690:T:C
              Gene:
              IL1RAP (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.000047/1 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000007/1 (GnomAD)
              HGVS:

              7.

              rs1478079389 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G,T [Show Flanks]
                Chromosome:
                3:190644261 (GRCh38)
                3:190362050 (GRCh37)
                Canonical SPDI:
                NC_000003.12:190644260:A:G,NC_000003.12:190644260:A:T
                Gene:
                IL1RAP (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000003.12:g.190644261A>G, NC_000003.12:g.190644261A>T, NC_000003.11:g.190362050A>G, NC_000003.11:g.190362050A>T, NG_029105.2:g.135211A>G, NG_029105.2:g.135211A>T, NM_002182.4:c.1065A>G, NM_002182.4:c.1065A>T, NM_002182.3:c.1065A>G, NM_002182.3:c.1065A>T, NM_001167931.2:c.1065A>G, NM_001167931.2:c.1065A>T, NM_001167931.1:c.1065A>G, NM_001167931.1:c.1065A>T, NM_001167928.2:c.1065A>G, NM_001167928.2:c.1065A>T, NM_001167928.1:c.1065A>G, NM_001167928.1:c.1065A>T, NM_001364881.2:c.1065A>G, NM_001364881.2:c.1065A>T, NM_001364881.1:c.1065A>G, NM_001364881.1:c.1065A>T, NM_001167929.2:c.1065A>G, NM_001167929.2:c.1065A>T, NM_001167929.1:c.1065A>G, NM_001167929.1:c.1065A>T, NR_157352.2:n.1139A>G, NR_157352.2:n.1139A>T, NR_157352.1:n.1139A>G, NR_157352.1:n.1139A>T, NR_157353.2:n.1052A>G, NR_157353.2:n.1052A>T, NR_157353.1:n.1052A>G, NR_157353.1:n.1052A>T, NM_001364879.1:c.1065A>G, NM_001364879.1:c.1065A>T, XM_017006348.3:c.483A>G, XM_017006348.3:c.483A>T, XM_017006348.2:c.483A>G, XM_017006348.2:c.483A>T, XM_017006348.1:c.483A>G, XM_017006348.1:c.483A>T, XM_047448081.1:c.1065A>G, XM_047448081.1:c.1065A>T, XM_047448084.1:c.1065A>G, XM_047448084.1:c.1065A>T, XM_047448082.1:c.1065A>G, XM_047448082.1:c.1065A>T, XM_047448083.1:c.1065A>G, XM_047448083.1:c.1065A>T, NP_002173.1:p.Arg355Ser, NP_001161403.1:p.Arg355Ser, NP_001161400.1:p.Arg355Ser, NP_001351810.1:p.Arg355Ser, NP_001161401.1:p.Arg355Ser, NP_001351808.1:p.Arg355Ser, XP_016861837.1:p.Arg161Ser, XP_047304037.1:p.Arg355Ser, XP_047304040.1:p.Arg355Ser, XP_047304038.1:p.Arg355Ser, XP_047304039.1:p.Arg355Ser

                8.

                rs1472539010 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  3:190604275 (GRCh38)
                  3:190322064 (GRCh37)
                  Canonical SPDI:
                  NC_000003.12:190604274:A:G
                  Gene:
                  IL1RAP (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  G=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000003.12:g.190604275A>G, NC_000003.11:g.190322064A>G, NG_029105.2:g.95225A>G, NM_002182.4:c.212A>G, NM_002182.3:c.212A>G, NM_134470.4:c.212A>G, NM_134470.3:c.212A>G, NM_001167931.2:c.212A>G, NM_001167931.1:c.212A>G, NM_001167928.2:c.212A>G, NM_001167928.1:c.212A>G, NM_001364881.2:c.212A>G, NM_001364881.1:c.212A>G, NM_001167929.2:c.212A>G, NM_001167929.1:c.212A>G, NR_157352.2:n.435A>G, NR_157352.1:n.435A>G, NR_157353.2:n.348A>G, NR_157353.1:n.348A>G, NM_001364880.2:c.212A>G, NM_001364880.1:c.212A>G, NM_001167930.2:c.212A>G, NM_001167930.1:c.212A>G, NM_001364879.1:c.212A>G, XM_047448081.1:c.212A>G, XM_047448084.1:c.212A>G, XM_047448082.1:c.212A>G, XM_047448085.1:c.212A>G, XM_047448083.1:c.212A>G, XM_047448086.1:c.119A>G, NP_002173.1:p.Tyr71Cys, NP_608273.1:p.Tyr71Cys, NP_001161403.1:p.Tyr71Cys, NP_001161400.1:p.Tyr71Cys, NP_001351810.1:p.Tyr71Cys, NP_001161401.1:p.Tyr71Cys, NP_001351809.1:p.Tyr71Cys, NP_001161402.1:p.Tyr71Cys, NP_001351808.1:p.Tyr71Cys, XP_047304037.1:p.Tyr71Cys, XP_047304040.1:p.Tyr71Cys, XP_047304038.1:p.Tyr71Cys, XP_047304041.1:p.Tyr71Cys, XP_047304039.1:p.Tyr71Cys, XP_047304042.1:p.Tyr40Cys

                  9.

                  rs1471253135 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    3:190644262 (GRCh38)
                    3:190362051 (GRCh37)
                    Canonical SPDI:
                    NC_000003.12:190644261:T:C
                    Gene:
                    IL1RAP (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000003.12:g.190644262T>C, NC_000003.11:g.190362051T>C, NG_029105.2:g.135212T>C, NM_002182.4:c.1066T>C, NM_002182.3:c.1066T>C, NM_001167931.2:c.1066T>C, NM_001167931.1:c.1066T>C, NM_001167928.2:c.1066T>C, NM_001167928.1:c.1066T>C, NM_001364881.2:c.1066T>C, NM_001364881.1:c.1066T>C, NM_001167929.2:c.1066T>C, NM_001167929.1:c.1066T>C, NR_157352.2:n.1140T>C, NR_157352.1:n.1140T>C, NR_157353.2:n.1053T>C, NR_157353.1:n.1053T>C, NM_001364879.1:c.1066T>C, XM_017006348.3:c.484T>C, XM_017006348.2:c.484T>C, XM_017006348.1:c.484T>C, XM_047448081.1:c.1066T>C, XM_047448084.1:c.1066T>C, XM_047448082.1:c.1066T>C, XM_047448083.1:c.1066T>C, NP_002173.1:p.Tyr356His, NP_001161403.1:p.Tyr356His, NP_001161400.1:p.Tyr356His, NP_001351810.1:p.Tyr356His, NP_001161401.1:p.Tyr356His, NP_001351808.1:p.Tyr356His, XP_016861837.1:p.Tyr162His, XP_047304037.1:p.Tyr356His, XP_047304040.1:p.Tyr356His, XP_047304038.1:p.Tyr356His, XP_047304039.1:p.Tyr356His

                    10.

                    rs1470176242 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      3:190604199 (GRCh38)
                      3:190321988 (GRCh37)
                      Canonical SPDI:
                      NC_000003.12:190604198:A:G
                      Gene:
                      IL1RAP (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000003.12:g.190604199A>G, NC_000003.11:g.190321988A>G, NG_029105.2:g.95149A>G, NM_002182.4:c.136A>G, NM_002182.3:c.136A>G, NM_134470.4:c.136A>G, NM_134470.3:c.136A>G, NM_001167931.2:c.136A>G, NM_001167931.1:c.136A>G, NM_001167928.2:c.136A>G, NM_001167928.1:c.136A>G, NM_001364881.2:c.136A>G, NM_001364881.1:c.136A>G, NM_001167929.2:c.136A>G, NM_001167929.1:c.136A>G, NR_157352.2:n.359A>G, NR_157352.1:n.359A>G, NR_157353.2:n.272A>G, NR_157353.1:n.272A>G, NM_001364880.2:c.136A>G, NM_001364880.1:c.136A>G, NM_001167930.2:c.136A>G, NM_001167930.1:c.136A>G, NM_001364879.1:c.136A>G, XM_047448081.1:c.136A>G, XM_047448084.1:c.136A>G, XM_047448082.1:c.136A>G, XM_047448085.1:c.136A>G, XM_047448083.1:c.136A>G, XM_047448086.1:c.43A>G, NP_002173.1:p.Lys46Glu, NP_608273.1:p.Lys46Glu, NP_001161403.1:p.Lys46Glu, NP_001161400.1:p.Lys46Glu, NP_001351810.1:p.Lys46Glu, NP_001161401.1:p.Lys46Glu, NP_001351809.1:p.Lys46Glu, NP_001161402.1:p.Lys46Glu, NP_001351808.1:p.Lys46Glu, XP_047304037.1:p.Lys46Glu, XP_047304040.1:p.Lys46Glu, XP_047304038.1:p.Lys46Glu, XP_047304041.1:p.Lys46Glu, XP_047304039.1:p.Lys46Glu, XP_047304042.1:p.Lys15Glu

                      11.

                      rs1467736796 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        3:190627424 (GRCh38)
                        3:190345213 (GRCh37)
                        Canonical SPDI:
                        NC_000003.12:190627423:A:G
                        Gene:
                        IL1RAP (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000003.12:g.190627424A>G, NC_000003.11:g.190345213A>G, NG_029105.2:g.118374A>G, NM_002182.4:c.877A>G, NM_002182.3:c.877A>G, NM_134470.4:c.877A>G, NM_134470.3:c.877A>G, NM_001167931.2:c.877A>G, NM_001167931.1:c.877A>G, NM_001167928.2:c.877A>G, NM_001167928.1:c.877A>G, NM_001364881.2:c.877A>G, NM_001364881.1:c.877A>G, NM_001167929.2:c.877A>G, NM_001167929.1:c.877A>G, NR_157352.2:n.1100A>G, NR_157352.1:n.1100A>G, NR_157353.2:n.1013A>G, NR_157353.1:n.1013A>G, NM_001364880.2:c.877A>G, NM_001364880.1:c.877A>G, NM_001167930.2:c.877A>G, NM_001167930.1:c.877A>G, NM_001364879.1:c.877A>G, XM_017006348.3:c.295A>G, XM_017006348.2:c.295A>G, XM_017006348.1:c.295A>G, XM_047448081.1:c.877A>G, XM_047448084.1:c.877A>G, XM_047448082.1:c.877A>G, XM_047448085.1:c.877A>G, XM_047448083.1:c.877A>G, XM_047448086.1:c.784A>G, NP_002173.1:p.Thr293Ala, NP_608273.1:p.Thr293Ala, NP_001161403.1:p.Thr293Ala, NP_001161400.1:p.Thr293Ala, NP_001351810.1:p.Thr293Ala, NP_001161401.1:p.Thr293Ala, NP_001351809.1:p.Thr293Ala, NP_001161402.1:p.Thr293Ala, NP_001351808.1:p.Thr293Ala, XP_016861837.1:p.Thr99Ala, XP_047304037.1:p.Thr293Ala, XP_047304040.1:p.Thr293Ala, XP_047304038.1:p.Thr293Ala, XP_047304041.1:p.Thr293Ala, XP_047304039.1:p.Thr293Ala, XP_047304042.1:p.Thr262Ala

                        12.

                        rs1466734320 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          3:190629478 (GRCh38)
                          3:190347267 (GRCh37)
                          Canonical SPDI:
                          NC_000003.12:190629477:C:T
                          Gene:
                          IL1RAP (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          T=0.000008/2 (GnomAD_exomes)
                          T=0.000106/2 (TOMMO)
                          HGVS:
                          NC_000003.12:g.190629478C>T, NC_000003.11:g.190347267C>T, NG_029105.2:g.120428C>T, NM_002182.4:c.1031C>T, NM_002182.3:c.1031C>T, NM_134470.4:c.1031C>T, NM_134470.3:c.1031C>T, NM_001167931.2:c.1031C>T, NM_001167931.1:c.1031C>T, NM_001167928.2:c.1031C>T, NM_001167928.1:c.1031C>T, NM_001364881.2:c.1031C>T, NM_001364881.1:c.1031C>T, NM_001167929.2:c.1031C>T, NM_001167929.1:c.1031C>T, NM_001364880.2:c.1031C>T, NM_001364880.1:c.1031C>T, NM_001167930.2:c.1031C>T, NM_001167930.1:c.1031C>T, NM_001364879.1:c.1031C>T, XM_017006348.3:c.449C>T, XM_017006348.2:c.449C>T, XM_017006348.1:c.449C>T, XM_047448081.1:c.1031C>T, XM_047448084.1:c.1031C>T, XM_047448082.1:c.1031C>T, XM_047448085.1:c.1031C>T, XM_047448083.1:c.1031C>T, XM_047448086.1:c.938C>T, NP_002173.1:p.Ala344Val, NP_608273.1:p.Ala344Val, NP_001161403.1:p.Ala344Val, NP_001161400.1:p.Ala344Val, NP_001351810.1:p.Ala344Val, NP_001161401.1:p.Ala344Val, NP_001351809.1:p.Ala344Val, NP_001161402.1:p.Ala344Val, NP_001351808.1:p.Ala344Val, XP_016861837.1:p.Ala150Val, XP_047304037.1:p.Ala344Val, XP_047304040.1:p.Ala344Val, XP_047304038.1:p.Ala344Val, XP_047304041.1:p.Ala344Val, XP_047304039.1:p.Ala344Val, XP_047304042.1:p.Ala313Val

                          13.

                          rs1462408626 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            3:190627342 (GRCh38)
                            3:190345131 (GRCh37)
                            Canonical SPDI:
                            NC_000003.12:190627341:C:T
                            Gene:
                            IL1RAP (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            T=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000003.12:g.190627342C>T, NC_000003.11:g.190345131C>T, NG_029105.2:g.118292C>T, NM_002182.4:c.795C>T, NM_002182.3:c.795C>T, NM_134470.4:c.795C>T, NM_134470.3:c.795C>T, NM_001167931.2:c.795C>T, NM_001167931.1:c.795C>T, NM_001167928.2:c.795C>T, NM_001167928.1:c.795C>T, NM_001364881.2:c.795C>T, NM_001364881.1:c.795C>T, NM_001167929.2:c.795C>T, NM_001167929.1:c.795C>T, NR_157352.2:n.1018C>T, NR_157352.1:n.1018C>T, NR_157353.2:n.931C>T, NR_157353.1:n.931C>T, NM_001364880.2:c.795C>T, NM_001364880.1:c.795C>T, NM_001167930.2:c.795C>T, NM_001167930.1:c.795C>T, NM_001364879.1:c.795C>T, XM_017006348.3:c.213C>T, XM_017006348.2:c.213C>T, XM_017006348.1:c.213C>T, XM_047448081.1:c.795C>T, XM_047448084.1:c.795C>T, XM_047448082.1:c.795C>T, XM_047448085.1:c.795C>T, XM_047448083.1:c.795C>T, XM_047448086.1:c.702C>T

                            14.

                            rs1462324618 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              3:190609009 (GRCh38)
                              3:190326798 (GRCh37)
                              Canonical SPDI:
                              NC_000003.12:190609008:G:A
                              Gene:
                              IL1RAP (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency
                              MAF:
                              A=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000003.12:g.190609009G>A, NC_000003.11:g.190326798G>A, NG_029105.2:g.99959G>A, NM_002182.4:c.365G>A, NM_002182.3:c.365G>A, NM_134470.4:c.365G>A, NM_134470.3:c.365G>A, NM_001167931.2:c.365G>A, NM_001167931.1:c.365G>A, NM_001167928.2:c.365G>A, NM_001167928.1:c.365G>A, NM_001364881.2:c.365G>A, NM_001364881.1:c.365G>A, NM_001167929.2:c.365G>A, NM_001167929.1:c.365G>A, NR_157352.2:n.588G>A, NR_157352.1:n.588G>A, NR_157353.2:n.501G>A, NR_157353.1:n.501G>A, NM_001364880.2:c.365G>A, NM_001364880.1:c.365G>A, NM_001167930.2:c.365G>A, NM_001167930.1:c.365G>A, NM_001364879.1:c.365G>A, XM_047448081.1:c.365G>A, XM_047448084.1:c.365G>A, XM_047448082.1:c.365G>A, XM_047448085.1:c.365G>A, XM_047448083.1:c.365G>A, XM_047448086.1:c.272G>A, NP_002173.1:p.Cys122Tyr, NP_608273.1:p.Cys122Tyr, NP_001161403.1:p.Cys122Tyr, NP_001161400.1:p.Cys122Tyr, NP_001351810.1:p.Cys122Tyr, NP_001161401.1:p.Cys122Tyr, NP_001351809.1:p.Cys122Tyr, NP_001161402.1:p.Cys122Tyr, NP_001351808.1:p.Cys122Tyr, XP_047304037.1:p.Cys122Tyr, XP_047304040.1:p.Cys122Tyr, XP_047304038.1:p.Cys122Tyr, XP_047304041.1:p.Cys122Tyr, XP_047304039.1:p.Cys122Tyr, XP_047304042.1:p.Cys91Tyr

                              15.

                              rs1459674535 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>T [Show Flanks]
                                Chromosome:
                                3:190645708 (GRCh38)
                                3:190363497 (GRCh37)
                                Canonical SPDI:
                                NC_000003.12:190645707:A:T
                                Gene:
                                IL1RAP (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                T=0.000008/2 (GnomAD_exomes)
                                T=0.000019/5 (TOPMED)
                                HGVS:
                                NC_000003.12:g.190645708A>T, NC_000003.11:g.190363497A>T, NG_029105.2:g.136658A>T, NM_002182.4:c.1211A>T, NM_002182.3:c.1211A>T, NM_001167931.2:c.1211A>T, NM_001167931.1:c.1211A>T, NM_001167928.2:c.1211A>T, NM_001167928.1:c.1211A>T, NM_001364881.2:c.1211A>T, NM_001364881.1:c.1211A>T, NM_001167929.2:c.1211A>T, NM_001167929.1:c.1211A>T, NR_157352.2:n.1285A>T, NR_157352.1:n.1285A>T, NR_157353.2:n.1198A>T, NR_157353.1:n.1198A>T, NM_001364879.1:c.1211A>T, XM_017006348.3:c.629A>T, XM_017006348.2:c.629A>T, XM_017006348.1:c.629A>T, XM_047448081.1:c.1211A>T, XM_047448084.1:c.1211A>T, XM_047448082.1:c.1211A>T, XM_047448083.1:c.1211A>T, NP_002173.1:p.Glu404Val, NP_001161403.1:p.Glu404Val, NP_001161400.1:p.Glu404Val, NP_001351810.1:p.Glu404Val, NP_001161401.1:p.Glu404Val, NP_001351808.1:p.Glu404Val, XP_016861837.1:p.Glu210Val, XP_047304037.1:p.Glu404Val, XP_047304040.1:p.Glu404Val, XP_047304038.1:p.Glu404Val, XP_047304039.1:p.Glu404Val

                                16.

                                rs1457889115 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  3:190648365 (GRCh38)
                                  3:190366154 (GRCh37)
                                  Canonical SPDI:
                                  NC_000003.12:190648364:T:C
                                  Gene:
                                  IL1RAP (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000003.12:g.190648365T>C, NC_000003.11:g.190366154T>C, NG_029105.2:g.139315T>C, NM_002182.4:c.1373T>C, NM_002182.3:c.1373T>C, NM_001167928.2:c.1373T>C, NM_001167928.1:c.1373T>C, NM_001364881.2:c.1373T>C, NM_001364881.1:c.1373T>C, NM_001167929.2:c.1373T>C, NM_001167929.1:c.1373T>C, NR_157352.2:n.1447T>C, NR_157352.1:n.1447T>C, NR_157353.2:n.1360T>C, NR_157353.1:n.1360T>C, XM_017006348.3:c.791T>C, XM_017006348.2:c.791T>C, XM_017006348.1:c.791T>C, XM_047448081.1:c.1373T>C, XM_047448084.1:c.1373T>C, XM_047448082.1:c.1373T>C, XM_047448083.1:c.1373T>C, NP_002173.1:p.Ile458Thr, NP_001161400.1:p.Ile458Thr, NP_001351810.1:p.Ile458Thr, NP_001161401.1:p.Ile458Thr, XP_016861837.1:p.Ile264Thr, XP_047304037.1:p.Ile458Thr, XP_047304040.1:p.Ile458Thr, XP_047304038.1:p.Ile458Thr, XP_047304039.1:p.Ile458Thr

                                  17.

                                  rs1454661687 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    3:190609137 (GRCh38)
                                    3:190326926 (GRCh37)
                                    Canonical SPDI:
                                    NC_000003.12:190609136:G:A
                                    Gene:
                                    IL1RAP (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000003.12:g.190609137G>A, NC_000003.11:g.190326926G>A, NG_029105.2:g.100087G>A, NM_002182.4:c.493G>A, NM_002182.3:c.493G>A, NM_134470.4:c.493G>A, NM_134470.3:c.493G>A, NM_001167931.2:c.493G>A, NM_001167931.1:c.493G>A, NM_001167928.2:c.493G>A, NM_001167928.1:c.493G>A, NM_001364881.2:c.493G>A, NM_001364881.1:c.493G>A, NM_001167929.2:c.493G>A, NM_001167929.1:c.493G>A, NR_157352.2:n.716G>A, NR_157352.1:n.716G>A, NR_157353.2:n.629G>A, NR_157353.1:n.629G>A, NM_001364880.2:c.493G>A, NM_001364880.1:c.493G>A, NM_001167930.2:c.493G>A, NM_001167930.1:c.493G>A, NM_001364879.1:c.493G>A, XM_047448081.1:c.493G>A, XM_047448084.1:c.493G>A, XM_047448082.1:c.493G>A, XM_047448085.1:c.493G>A, XM_047448083.1:c.493G>A, XM_047448086.1:c.400G>A, NP_002173.1:p.Gly165Arg, NP_608273.1:p.Gly165Arg, NP_001161403.1:p.Gly165Arg, NP_001161400.1:p.Gly165Arg, NP_001351810.1:p.Gly165Arg, NP_001161401.1:p.Gly165Arg, NP_001351809.1:p.Gly165Arg, NP_001161402.1:p.Gly165Arg, NP_001351808.1:p.Gly165Arg, XP_047304037.1:p.Gly165Arg, XP_047304040.1:p.Gly165Arg, XP_047304038.1:p.Gly165Arg, XP_047304041.1:p.Gly165Arg, XP_047304039.1:p.Gly165Arg, XP_047304042.1:p.Gly134Arg

                                    18.

                                    rs1454621148 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      3:190648402 (GRCh38)
                                      3:190366191 (GRCh37)
                                      Canonical SPDI:
                                      NC_000003.12:190648401:C:T
                                      Gene:
                                      IL1RAP (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1452866079 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>T [Show Flanks]
                                        Chromosome:
                                        3:190620282 (GRCh38)
                                        3:190338071 (GRCh37)
                                        Canonical SPDI:
                                        NC_000003.12:190620281:A:T
                                        Gene:
                                        IL1RAP (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000009/2 (GnomAD_exomes)
                                        HGVS:
                                        NC_000003.12:g.190620282A>T, NC_000003.11:g.190338071A>T, NG_029105.2:g.111232A>T, NM_002182.4:c.545A>T, NM_002182.3:c.545A>T, NM_134470.4:c.545A>T, NM_134470.3:c.545A>T, NM_001167931.2:c.545A>T, NM_001167931.1:c.545A>T, NM_001167928.2:c.545A>T, NM_001167928.1:c.545A>T, NM_001364881.2:c.545A>T, NM_001364881.1:c.545A>T, NM_001167929.2:c.545A>T, NM_001167929.1:c.545A>T, NR_157352.2:n.768A>T, NR_157352.1:n.768A>T, NR_157353.2:n.681A>T, NR_157353.1:n.681A>T, NM_001364880.2:c.545A>T, NM_001364880.1:c.545A>T, NM_001167930.2:c.545A>T, NM_001167930.1:c.545A>T, NM_001364879.1:c.545A>T, XM_017006348.3:c.-38A>T, XM_017006348.2:c.-38A>T, XM_017006348.1:c.-38A>T, XM_047448081.1:c.545A>T, XM_047448084.1:c.545A>T, XM_047448082.1:c.545A>T, XM_047448085.1:c.545A>T, XM_047448083.1:c.545A>T, XM_047448086.1:c.452A>T, NP_002173.1:p.Tyr182Phe, NP_608273.1:p.Tyr182Phe, NP_001161403.1:p.Tyr182Phe, NP_001161400.1:p.Tyr182Phe, NP_001351810.1:p.Tyr182Phe, NP_001161401.1:p.Tyr182Phe, NP_001351809.1:p.Tyr182Phe, NP_001161402.1:p.Tyr182Phe, NP_001351808.1:p.Tyr182Phe, XP_047304037.1:p.Tyr182Phe, XP_047304040.1:p.Tyr182Phe, XP_047304038.1:p.Tyr182Phe, XP_047304041.1:p.Tyr182Phe, XP_047304039.1:p.Tyr182Phe, XP_047304042.1:p.Tyr151Phe

                                        20.

                                        rs1452762979 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>G [Show Flanks]
                                          Chromosome:
                                          3:190644335 (GRCh38)
                                          3:190362124 (GRCh37)
                                          Canonical SPDI:
                                          NC_000003.12:190644334:T:G
                                          Gene:
                                          IL1RAP (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant
                                          HGVS:
                                          NC_000003.12:g.190644335T>G, NC_000003.11:g.190362124T>G, NG_029105.2:g.135285T>G, NM_002182.4:c.1139T>G, NM_002182.3:c.1139T>G, NM_001167931.2:c.1139T>G, NM_001167931.1:c.1139T>G, NM_001167928.2:c.1139T>G, NM_001167928.1:c.1139T>G, NM_001364881.2:c.1139T>G, NM_001364881.1:c.1139T>G, NM_001167929.2:c.1139T>G, NM_001167929.1:c.1139T>G, NR_157352.2:n.1213T>G, NR_157352.1:n.1213T>G, NR_157353.2:n.1126T>G, NR_157353.1:n.1126T>G, NM_001364879.1:c.1139T>G, XM_017006348.3:c.557T>G, XM_017006348.2:c.557T>G, XM_017006348.1:c.557T>G, XM_047448081.1:c.1139T>G, XM_047448084.1:c.1139T>G, XM_047448082.1:c.1139T>G, XM_047448083.1:c.1139T>G, NP_002173.1:p.Val380Gly, NP_001161403.1:p.Val380Gly, NP_001161400.1:p.Val380Gly, NP_001351810.1:p.Val380Gly, NP_001161401.1:p.Val380Gly, NP_001351808.1:p.Val380Gly, XP_016861837.1:p.Val186Gly, XP_047304037.1:p.Val380Gly, XP_047304040.1:p.Val380Gly, XP_047304038.1:p.Val380Gly, XP_047304039.1:p.Val380Gly

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