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Items: 1 to 20 of 354

1.

rs1483954965 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    17:39792883 (GRCh38)
    17:37949136 (GRCh37)
    Canonical SPDI:
    NC_000017.11:39792882:A:G
    Gene:
    IKZF3 (Varview)
    Functional Consequence:
    coding_sequence_variant,intron_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:

    2.

    rs1483605389 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      17:39791520 (GRCh38)
      17:37947773 (GRCh37)
      Canonical SPDI:
      NC_000017.11:39791519:C:A,NC_000017.11:39791519:C:T
      Gene:
      IKZF3 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      A=0.000047/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000017.11:g.39791520C>A, NC_000017.11:g.39791520C>T, NC_000017.10:g.37947773C>A, NC_000017.10:g.37947773C>T, NG_029104.2:g.77669G>T, NG_029104.2:g.77669G>A, NM_012481.5:c.488G>T, NM_012481.5:c.488G>A, NM_012481.4:c.488G>T, NM_012481.4:c.488G>A, NM_183230.3:c.488G>T, NM_183230.3:c.488G>A, NM_183230.2:c.488G>T, NM_183230.2:c.488G>A, NM_183229.3:c.488G>T, NM_183229.3:c.488G>A, NM_183229.2:c.488G>T, NM_183229.2:c.488G>A, NM_183232.3:c.488G>T, NM_183232.3:c.488G>A, NM_183232.2:c.488G>T, NM_183232.2:c.488G>A, NM_001284514.2:c.-380G>T, NM_001284514.2:c.-380G>A, NM_001284514.1:c.-380G>T, NM_001284514.1:c.-380G>A, NM_001257408.2:c.386G>T, NM_001257408.2:c.386G>A, NM_001257408.1:c.386G>T, NM_001257408.1:c.386G>A, NM_001257409.2:c.386G>T, NM_001257409.2:c.386G>A, NM_001257409.1:c.386G>T, NM_001257409.1:c.386G>A, NM_001257410.2:c.227G>T, NM_001257410.2:c.227G>A, NM_001257410.1:c.227G>T, NM_001257410.1:c.227G>A, NR_047559.1:n.550G>T, NR_047559.1:n.550G>A, XM_047435625.1:c.389G>T, XM_047435625.1:c.389G>A, NP_036613.2:p.Arg163Leu, NP_036613.2:p.Arg163His, NP_899053.1:p.Arg163Leu, NP_899053.1:p.Arg163His, NP_899052.1:p.Arg163Leu, NP_899052.1:p.Arg163His, NP_899055.1:p.Arg163Leu, NP_899055.1:p.Arg163His, NP_001244337.1:p.Arg129Leu, NP_001244337.1:p.Arg129His, NP_001244338.1:p.Arg129Leu, NP_001244338.1:p.Arg129His, NP_001244339.1:p.Arg76Leu, NP_001244339.1:p.Arg76His, XP_047291581.1:p.Arg130Leu, XP_047291581.1:p.Arg130His

      3.

      rs1475483878 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:39792933 (GRCh38)
        17:37949186 (GRCh37)
        Canonical SPDI:
        NC_000017.11:39792932:T:C
        Gene:
        IKZF3 (Varview)
        Functional Consequence:
        coding_sequence_variant,intron_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        HGVS:
        NC_000017.11:g.39792933T>C, NC_000017.10:g.37949186T>C, NG_029104.2:g.76256A>G, NM_012481.5:c.164A>G, NM_012481.4:c.164A>G, NM_183230.3:c.164A>G, NM_183230.2:c.164A>G, NM_183229.3:c.164A>G, NM_183229.2:c.164A>G, NM_183228.3:c.164A>G, NM_183228.2:c.164A>G, NM_183232.3:c.164A>G, NM_183232.2:c.164A>G, NM_183231.3:c.164A>G, NM_183231.2:c.164A>G, NM_001284514.2:c.-704A>G, NM_001284514.1:c.-704A>G, NM_001284515.2:c.-536A>G, NM_001284515.1:c.-536A>G, NM_001257408.2:c.62A>G, NM_001257408.1:c.62A>G, NM_001257409.2:c.62A>G, NM_001257409.1:c.62A>G, NM_001257414.2:c.164A>G, NM_001257414.1:c.164A>G, NR_047559.1:n.226A>G, NR_047560.1:n.226A>G, XM_047435625.1:c.65A>G, NP_036613.2:p.Asp55Gly, NP_899053.1:p.Asp55Gly, NP_899052.1:p.Asp55Gly, NP_899051.1:p.Asp55Gly, NP_899055.1:p.Asp55Gly, NP_899054.1:p.Asp55Gly, NP_001244337.1:p.Asp21Gly, NP_001244338.1:p.Asp21Gly, NP_001244343.1:p.Asp55Gly, XP_047291581.1:p.Asp22Gly

        4.

        rs1472502756 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          17:39766259 (GRCh38)
          17:37922512 (GRCh37)
          Canonical SPDI:
          NC_000017.11:39766258:C:A
          Gene:
          IKZF3 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.39766259C>A, NC_000017.10:g.37922512C>A, NG_029104.2:g.102930G>T, NM_012481.5:c.1061G>T, NM_012481.4:c.1061G>T, NM_183230.3:c.944G>T, NM_183230.2:c.944G>T, NM_183229.3:c.944G>T, NM_183229.2:c.944G>T, NM_183228.3:c.893G>T, NM_183228.2:c.893G>T, NM_183232.3:c.827G>T, NM_183232.2:c.827G>T, NM_183231.3:c.776G>T, NM_183231.2:c.776G>T, NM_001284514.2:c.320G>T, NM_001284514.1:c.320G>T, NM_001284515.2:c.320G>T, NM_001284515.1:c.320G>T, NM_001257408.2:c.959G>T, NM_001257408.1:c.959G>T, NM_001257409.2:c.842G>T, NM_001257409.1:c.842G>T, NM_001257410.2:c.800G>T, NM_001257410.1:c.800G>T, NM_001257414.2:c.659G>T, NM_001257414.1:c.659G>T, NM_001257411.2:c.632G>T, NM_001257411.1:c.632G>T, NM_001257412.2:c.515G>T, NM_001257412.1:c.515G>T, NM_001257413.2:c.398G>T, NM_001257413.1:c.398G>T, NM_001284516.1:c.320G>T, NR_047559.1:n.1249G>T, NR_047560.1:n.1081G>T, XM_047435625.1:c.962G>T, NR_047561.1:n.693G>T, NP_036613.2:p.Gly354Val, NP_899053.1:p.Gly315Val, NP_899052.1:p.Gly315Val, NP_899051.1:p.Gly298Val, NP_899055.1:p.Gly276Val, NP_899054.1:p.Gly259Val, NP_001271443.1:p.Gly107Val, NP_001271444.1:p.Gly107Val, NP_001244337.1:p.Gly320Val, NP_001244338.1:p.Gly281Val, NP_001244339.1:p.Gly267Val, NP_001244343.1:p.Gly220Val, NP_001244340.1:p.Gly211Val, NP_001244341.1:p.Gly172Val, NP_001244342.1:p.Gly133Val, NP_001271445.1:p.Gly107Val, XP_047291581.1:p.Gly321Val

          5.

          rs1465013679 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:39829432 (GRCh38)
            17:37985685 (GRCh37)
            Canonical SPDI:
            NC_000017.11:39829431:C:T
            Gene:
            IKZF3 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            T=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000017.11:g.39829432C>T, NC_000017.10:g.37985685C>T, NG_029104.2:g.39757G>A, NM_012481.5:c.118G>A, NM_012481.4:c.118G>A, NM_183230.3:c.118G>A, NM_183230.2:c.118G>A, NM_183229.3:c.118G>A, NM_183229.2:c.118G>A, NM_183228.3:c.118G>A, NM_183228.2:c.118G>A, NM_183232.3:c.118G>A, NM_183232.2:c.118G>A, NM_183231.3:c.118G>A, NM_183231.2:c.118G>A, NM_001284514.2:c.-750G>A, NM_001284514.1:c.-750G>A, NM_001284515.2:c.-582G>A, NM_001284515.1:c.-582G>A, NM_001257410.2:c.118G>A, NM_001257410.1:c.118G>A, NM_001257414.2:c.118G>A, NM_001257414.1:c.118G>A, NM_001257411.2:c.118G>A, NM_001257411.1:c.118G>A, NM_001257412.2:c.118G>A, NM_001257412.1:c.118G>A, NM_001257413.2:c.118G>A, NM_001257413.1:c.118G>A, NR_047559.1:n.180G>A, NR_047560.1:n.180G>A, NP_036613.2:p.Val40Met, NP_899053.1:p.Val40Met, NP_899052.1:p.Val40Met, NP_899051.1:p.Val40Met, NP_899055.1:p.Val40Met, NP_899054.1:p.Val40Met, NP_001244339.1:p.Val40Met, NP_001244343.1:p.Val40Met, NP_001244340.1:p.Val40Met, NP_001244341.1:p.Val40Met, NP_001244342.1:p.Val40Met

            6.

            rs1464907015 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              17:39766082 (GRCh38)
              17:37922335 (GRCh37)
              Canonical SPDI:
              NC_000017.11:39766081:T:C
              Gene:
              IKZF3 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000007/1 (GnomAD)
              HGVS:
              NC_000017.11:g.39766082T>C, NC_000017.10:g.37922335T>C, NG_029104.2:g.103107A>G, NM_012481.5:c.1238A>G, NM_012481.4:c.1238A>G, NM_183230.3:c.1121A>G, NM_183230.2:c.1121A>G, NM_183229.3:c.1121A>G, NM_183229.2:c.1121A>G, NM_183228.3:c.1070A>G, NM_183228.2:c.1070A>G, NM_183232.3:c.1004A>G, NM_183232.2:c.1004A>G, NM_183231.3:c.953A>G, NM_183231.2:c.953A>G, NM_001284514.2:c.497A>G, NM_001284514.1:c.497A>G, NM_001284515.2:c.497A>G, NM_001284515.1:c.497A>G, NM_001257408.2:c.1136A>G, NM_001257408.1:c.1136A>G, NM_001257409.2:c.1019A>G, NM_001257409.1:c.1019A>G, NM_001257410.2:c.977A>G, NM_001257410.1:c.977A>G, NM_001257414.2:c.836A>G, NM_001257414.1:c.836A>G, NM_001257411.2:c.809A>G, NM_001257411.1:c.809A>G, NM_001257412.2:c.692A>G, NM_001257412.1:c.692A>G, NM_001257413.2:c.575A>G, NM_001257413.1:c.575A>G, NM_001284516.1:c.497A>G, NR_047559.1:n.1426A>G, NR_047560.1:n.1258A>G, XM_047435625.1:c.1139A>G, NR_047561.1:n.870A>G, NP_036613.2:p.Asn413Ser, NP_899053.1:p.Asn374Ser, NP_899052.1:p.Asn374Ser, NP_899051.1:p.Asn357Ser, NP_899055.1:p.Asn335Ser, NP_899054.1:p.Asn318Ser, NP_001271443.1:p.Asn166Ser, NP_001271444.1:p.Asn166Ser, NP_001244337.1:p.Asn379Ser, NP_001244338.1:p.Asn340Ser, NP_001244339.1:p.Asn326Ser, NP_001244343.1:p.Asn279Ser, NP_001244340.1:p.Asn270Ser, NP_001244341.1:p.Asn231Ser, NP_001244342.1:p.Asn192Ser, NP_001271445.1:p.Asn166Ser, XP_047291581.1:p.Asn380Ser

              7.

              rs1463659929 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                17:39766274 (GRCh38)
                17:37922527 (GRCh37)
                Canonical SPDI:
                NC_000017.11:39766273:G:A
                Gene:
                IKZF3 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.39766274G>A, NC_000017.10:g.37922527G>A, NG_029104.2:g.102915C>T, NM_012481.5:c.1046C>T, NM_012481.4:c.1046C>T, NM_183230.3:c.929C>T, NM_183230.2:c.929C>T, NM_183229.3:c.929C>T, NM_183229.2:c.929C>T, NM_183228.3:c.878C>T, NM_183228.2:c.878C>T, NM_183232.3:c.812C>T, NM_183232.2:c.812C>T, NM_183231.3:c.761C>T, NM_183231.2:c.761C>T, NM_001284514.2:c.305C>T, NM_001284514.1:c.305C>T, NM_001284515.2:c.305C>T, NM_001284515.1:c.305C>T, NM_001257408.2:c.944C>T, NM_001257408.1:c.944C>T, NM_001257409.2:c.827C>T, NM_001257409.1:c.827C>T, NM_001257410.2:c.785C>T, NM_001257410.1:c.785C>T, NM_001257414.2:c.644C>T, NM_001257414.1:c.644C>T, NM_001257411.2:c.617C>T, NM_001257411.1:c.617C>T, NM_001257412.2:c.500C>T, NM_001257412.1:c.500C>T, NM_001257413.2:c.383C>T, NM_001257413.1:c.383C>T, NM_001284516.1:c.305C>T, NR_047559.1:n.1234C>T, NR_047560.1:n.1066C>T, XM_047435625.1:c.947C>T, NR_047561.1:n.678C>T, NP_036613.2:p.Ala349Val, NP_899053.1:p.Ala310Val, NP_899052.1:p.Ala310Val, NP_899051.1:p.Ala293Val, NP_899055.1:p.Ala271Val, NP_899054.1:p.Ala254Val, NP_001271443.1:p.Ala102Val, NP_001271444.1:p.Ala102Val, NP_001244337.1:p.Ala315Val, NP_001244338.1:p.Ala276Val, NP_001244339.1:p.Ala262Val, NP_001244343.1:p.Ala215Val, NP_001244340.1:p.Ala206Val, NP_001244341.1:p.Ala167Val, NP_001244342.1:p.Ala128Val, NP_001271445.1:p.Ala102Val, XP_047291581.1:p.Ala316Val

                8.

                rs1459814005 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  17:39765995 (GRCh38)
                  17:37922248 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:39765994:A:G
                  Gene:
                  IKZF3 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  HGVS:
                  NC_000017.11:g.39765995A>G, NC_000017.10:g.37922248A>G, NG_029104.2:g.103194T>C, NM_012481.5:c.1325T>C, NM_012481.4:c.1325T>C, NM_183230.3:c.1208T>C, NM_183230.2:c.1208T>C, NM_183229.3:c.1208T>C, NM_183229.2:c.1208T>C, NM_183228.3:c.1157T>C, NM_183228.2:c.1157T>C, NM_183232.3:c.1091T>C, NM_183232.2:c.1091T>C, NM_183231.3:c.1040T>C, NM_183231.2:c.1040T>C, NM_001284514.2:c.584T>C, NM_001284514.1:c.584T>C, NM_001284515.2:c.584T>C, NM_001284515.1:c.584T>C, NM_001257408.2:c.1223T>C, NM_001257408.1:c.1223T>C, NM_001257409.2:c.1106T>C, NM_001257409.1:c.1106T>C, NM_001257410.2:c.1064T>C, NM_001257410.1:c.1064T>C, NM_001257414.2:c.923T>C, NM_001257414.1:c.923T>C, NM_001257411.2:c.896T>C, NM_001257411.1:c.896T>C, NM_001257412.2:c.779T>C, NM_001257412.1:c.779T>C, NM_001257413.2:c.662T>C, NM_001257413.1:c.662T>C, NM_001284516.1:c.584T>C, NR_047559.1:n.1513T>C, NR_047560.1:n.1345T>C, XM_047435625.1:c.1226T>C, NR_047561.1:n.957T>C, NP_036613.2:p.Ile442Thr, NP_899053.1:p.Ile403Thr, NP_899052.1:p.Ile403Thr, NP_899051.1:p.Ile386Thr, NP_899055.1:p.Ile364Thr, NP_899054.1:p.Ile347Thr, NP_001271443.1:p.Ile195Thr, NP_001271444.1:p.Ile195Thr, NP_001244337.1:p.Ile408Thr, NP_001244338.1:p.Ile369Thr, NP_001244339.1:p.Ile355Thr, NP_001244343.1:p.Ile308Thr, NP_001244340.1:p.Ile299Thr, NP_001244341.1:p.Ile260Thr, NP_001244342.1:p.Ile221Thr, NP_001271445.1:p.Ile195Thr, XP_047291581.1:p.Ile409Thr

                  9.

                  rs1453308879 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>C,G [Show Flanks]
                    Chromosome:
                    17:39829474 (GRCh38)
                    17:37985727 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:39829473:A:C,NC_000017.11:39829473:A:G
                    Gene:
                    IKZF3 (Varview)
                    Functional Consequence:
                    5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    G=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000017.11:g.39829474A>C, NC_000017.11:g.39829474A>G, NC_000017.10:g.37985727A>C, NC_000017.10:g.37985727A>G, NG_029104.2:g.39715T>G, NG_029104.2:g.39715T>C, NM_012481.5:c.76T>G, NM_012481.5:c.76T>C, NM_012481.4:c.76T>G, NM_012481.4:c.76T>C, NM_183230.3:c.76T>G, NM_183230.3:c.76T>C, NM_183230.2:c.76T>G, NM_183230.2:c.76T>C, NM_183229.3:c.76T>G, NM_183229.3:c.76T>C, NM_183229.2:c.76T>G, NM_183229.2:c.76T>C, NM_183228.3:c.76T>G, NM_183228.3:c.76T>C, NM_183228.2:c.76T>G, NM_183228.2:c.76T>C, NM_183232.3:c.76T>G, NM_183232.3:c.76T>C, NM_183232.2:c.76T>G, NM_183232.2:c.76T>C, NM_183231.3:c.76T>G, NM_183231.3:c.76T>C, NM_183231.2:c.76T>G, NM_183231.2:c.76T>C, NM_001284514.2:c.-792T>G, NM_001284514.2:c.-792T>C, NM_001284514.1:c.-792T>G, NM_001284514.1:c.-792T>C, NM_001284515.2:c.-624T>G, NM_001284515.2:c.-624T>C, NM_001284515.1:c.-624T>G, NM_001284515.1:c.-624T>C, NM_001257410.2:c.76T>G, NM_001257410.2:c.76T>C, NM_001257410.1:c.76T>G, NM_001257410.1:c.76T>C, NM_001257414.2:c.76T>G, NM_001257414.2:c.76T>C, NM_001257414.1:c.76T>G, NM_001257414.1:c.76T>C, NM_001257411.2:c.76T>G, NM_001257411.2:c.76T>C, NM_001257411.1:c.76T>G, NM_001257411.1:c.76T>C, NM_001257412.2:c.76T>G, NM_001257412.2:c.76T>C, NM_001257412.1:c.76T>G, NM_001257412.1:c.76T>C, NM_001257413.2:c.76T>G, NM_001257413.2:c.76T>C, NM_001257413.1:c.76T>G, NM_001257413.1:c.76T>C, NR_047559.1:n.138T>G, NR_047559.1:n.138T>C, NR_047560.1:n.138T>G, NR_047560.1:n.138T>C, NP_036613.2:p.Leu26Val, NP_899053.1:p.Leu26Val, NP_899052.1:p.Leu26Val, NP_899051.1:p.Leu26Val, NP_899055.1:p.Leu26Val, NP_899054.1:p.Leu26Val, NP_001244339.1:p.Leu26Val, NP_001244343.1:p.Leu26Val, NP_001244340.1:p.Leu26Val, NP_001244341.1:p.Leu26Val, NP_001244342.1:p.Leu26Val

                    10.

                    rs1451942379 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>T [Show Flanks]
                      Chromosome:
                      17:39792871 (GRCh38)
                      17:37949124 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:39792870:G:T
                      Gene:
                      IKZF3 (Varview)
                      Functional Consequence:
                      5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.39792871G>T, NC_000017.10:g.37949124G>T, NG_029104.2:g.76318C>A, NM_012481.5:c.226C>A, NM_012481.4:c.226C>A, NM_183230.3:c.226C>A, NM_183230.2:c.226C>A, NM_183229.3:c.226C>A, NM_183229.2:c.226C>A, NM_183228.3:c.226C>A, NM_183228.2:c.226C>A, NM_183232.3:c.226C>A, NM_183232.2:c.226C>A, NM_183231.3:c.226C>A, NM_183231.2:c.226C>A, NM_001284514.2:c.-642C>A, NM_001284514.1:c.-642C>A, NM_001284515.2:c.-474C>A, NM_001284515.1:c.-474C>A, NM_001257408.2:c.124C>A, NM_001257408.1:c.124C>A, NM_001257409.2:c.124C>A, NM_001257409.1:c.124C>A, NM_001257414.2:c.226C>A, NM_001257414.1:c.226C>A, NR_047559.1:n.288C>A, NR_047560.1:n.288C>A, XM_047435625.1:c.127C>A, NP_036613.2:p.Pro76Thr, NP_899053.1:p.Pro76Thr, NP_899052.1:p.Pro76Thr, NP_899051.1:p.Pro76Thr, NP_899055.1:p.Pro76Thr, NP_899054.1:p.Pro76Thr, NP_001244337.1:p.Pro42Thr, NP_001244338.1:p.Pro42Thr, NP_001244343.1:p.Pro76Thr, XP_047291581.1:p.Pro43Thr

                      11.

                      rs1451487927 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        17:39791561 (GRCh38)
                        17:37947814 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:39791560:A:G
                        Gene:
                        IKZF3 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        G=0.000047/1 (ALFA)
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:

                        12.

                        rs1450360234 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          17:39792909 (GRCh38)
                          17:37949162 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:39792908:T:A
                          Gene:
                          IKZF3 (Varview)
                          Functional Consequence:
                          5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.39792909T>A, NC_000017.10:g.37949162T>A, NG_029104.2:g.76280A>T, NM_012481.5:c.188A>T, NM_012481.4:c.188A>T, NM_183230.3:c.188A>T, NM_183230.2:c.188A>T, NM_183229.3:c.188A>T, NM_183229.2:c.188A>T, NM_183228.3:c.188A>T, NM_183228.2:c.188A>T, NM_183232.3:c.188A>T, NM_183232.2:c.188A>T, NM_183231.3:c.188A>T, NM_183231.2:c.188A>T, NM_001284514.2:c.-680A>T, NM_001284514.1:c.-680A>T, NM_001284515.2:c.-512A>T, NM_001284515.1:c.-512A>T, NM_001257408.2:c.86A>T, NM_001257408.1:c.86A>T, NM_001257409.2:c.86A>T, NM_001257409.1:c.86A>T, NM_001257414.2:c.188A>T, NM_001257414.1:c.188A>T, NR_047559.1:n.250A>T, NR_047560.1:n.250A>T, XM_047435625.1:c.89A>T, NP_036613.2:p.Glu63Val, NP_899053.1:p.Glu63Val, NP_899052.1:p.Glu63Val, NP_899051.1:p.Glu63Val, NP_899055.1:p.Glu63Val, NP_899054.1:p.Glu63Val, NP_001244337.1:p.Glu29Val, NP_001244338.1:p.Glu29Val, NP_001244343.1:p.Glu63Val, XP_047291581.1:p.Glu30Val

                          13.

                          rs1447817385 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            17:39766416 (GRCh38)
                            17:37922669 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:39766415:G:A
                            Gene:
                            IKZF3 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.39766416G>A, NC_000017.10:g.37922669G>A, NG_029104.2:g.102773C>T, NM_012481.5:c.904C>T, NM_012481.4:c.904C>T, NM_183230.3:c.787C>T, NM_183230.2:c.787C>T, NM_183229.3:c.787C>T, NM_183229.2:c.787C>T, NM_183228.3:c.736C>T, NM_183228.2:c.736C>T, NM_183232.3:c.670C>T, NM_183232.2:c.670C>T, NM_183231.3:c.619C>T, NM_183231.2:c.619C>T, NM_001284514.2:c.163C>T, NM_001284514.1:c.163C>T, NM_001284515.2:c.163C>T, NM_001284515.1:c.163C>T, NM_001257408.2:c.802C>T, NM_001257408.1:c.802C>T, NM_001257409.2:c.685C>T, NM_001257409.1:c.685C>T, NM_001257410.2:c.643C>T, NM_001257410.1:c.643C>T, NM_001257414.2:c.502C>T, NM_001257414.1:c.502C>T, NM_001257411.2:c.475C>T, NM_001257411.1:c.475C>T, NM_001257412.2:c.358C>T, NM_001257412.1:c.358C>T, NM_001257413.2:c.241C>T, NM_001257413.1:c.241C>T, NM_001284516.1:c.163C>T, NR_047559.1:n.1092C>T, NR_047560.1:n.924C>T, XM_047435625.1:c.805C>T, NR_047561.1:n.536C>T, NP_036613.2:p.Arg302Cys, NP_899053.1:p.Arg263Cys, NP_899052.1:p.Arg263Cys, NP_899051.1:p.Arg246Cys, NP_899055.1:p.Arg224Cys, NP_899054.1:p.Arg207Cys, NP_001271443.1:p.Arg55Cys, NP_001271444.1:p.Arg55Cys, NP_001244337.1:p.Arg268Cys, NP_001244338.1:p.Arg229Cys, NP_001244339.1:p.Arg215Cys, NP_001244343.1:p.Arg168Cys, NP_001244340.1:p.Arg159Cys, NP_001244341.1:p.Arg120Cys, NP_001244342.1:p.Arg81Cys, NP_001271445.1:p.Arg55Cys, XP_047291581.1:p.Arg269Cys

                            14.

                            rs1440909050 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              17:39791501 (GRCh38)
                              17:37947754 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:39791500:T:C
                              Gene:
                              IKZF3 (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000015/4 (TOPMED)
                              C=0.000021/3 (GnomAD)
                              HGVS:

                              15.

                              rs1436946084 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C,G [Show Flanks]
                                Chromosome:
                                17:39766023 (GRCh38)
                                17:37922276 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:39766022:T:C,NC_000017.11:39766022:T:G
                                Gene:
                                IKZF3 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000031/1 (ALFA)
                                C=0.000004/1 (TOPMED)
                                C=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000017.11:g.39766023T>C, NC_000017.11:g.39766023T>G, NC_000017.10:g.37922276T>C, NC_000017.10:g.37922276T>G, NG_029104.2:g.103166A>G, NG_029104.2:g.103166A>C, NM_012481.5:c.1297A>G, NM_012481.5:c.1297A>C, NM_012481.4:c.1297A>G, NM_012481.4:c.1297A>C, NM_183230.3:c.1180A>G, NM_183230.3:c.1180A>C, NM_183230.2:c.1180A>G, NM_183230.2:c.1180A>C, NM_183229.3:c.1180A>G, NM_183229.3:c.1180A>C, NM_183229.2:c.1180A>G, NM_183229.2:c.1180A>C, NM_183228.3:c.1129A>G, NM_183228.3:c.1129A>C, NM_183228.2:c.1129A>G, NM_183228.2:c.1129A>C, NM_183232.3:c.1063A>G, NM_183232.3:c.1063A>C, NM_183232.2:c.1063A>G, NM_183232.2:c.1063A>C, NM_183231.3:c.1012A>G, NM_183231.3:c.1012A>C, NM_183231.2:c.1012A>G, NM_183231.2:c.1012A>C, NM_001284514.2:c.556A>G, NM_001284514.2:c.556A>C, NM_001284514.1:c.556A>G, NM_001284514.1:c.556A>C, NM_001284515.2:c.556A>G, NM_001284515.2:c.556A>C, NM_001284515.1:c.556A>G, NM_001284515.1:c.556A>C, NM_001257408.2:c.1195A>G, NM_001257408.2:c.1195A>C, NM_001257408.1:c.1195A>G, NM_001257408.1:c.1195A>C, NM_001257409.2:c.1078A>G, NM_001257409.2:c.1078A>C, NM_001257409.1:c.1078A>G, NM_001257409.1:c.1078A>C, NM_001257410.2:c.1036A>G, NM_001257410.2:c.1036A>C, NM_001257410.1:c.1036A>G, NM_001257410.1:c.1036A>C, NM_001257414.2:c.895A>G, NM_001257414.2:c.895A>C, NM_001257414.1:c.895A>G, NM_001257414.1:c.895A>C, NM_001257411.2:c.868A>G, NM_001257411.2:c.868A>C, NM_001257411.1:c.868A>G, NM_001257411.1:c.868A>C, NM_001257412.2:c.751A>G, NM_001257412.2:c.751A>C, NM_001257412.1:c.751A>G, NM_001257412.1:c.751A>C, NM_001257413.2:c.634A>G, NM_001257413.2:c.634A>C, NM_001257413.1:c.634A>G, NM_001257413.1:c.634A>C, NM_001284516.1:c.556A>G, NM_001284516.1:c.556A>C, NR_047559.1:n.1485A>G, NR_047559.1:n.1485A>C, NR_047560.1:n.1317A>G, NR_047560.1:n.1317A>C, XM_047435625.1:c.1198A>G, XM_047435625.1:c.1198A>C, NR_047561.1:n.929A>G, NR_047561.1:n.929A>C, NP_036613.2:p.Ile433Val, NP_036613.2:p.Ile433Leu, NP_899053.1:p.Ile394Val, NP_899053.1:p.Ile394Leu, NP_899052.1:p.Ile394Val, NP_899052.1:p.Ile394Leu, NP_899051.1:p.Ile377Val, NP_899051.1:p.Ile377Leu, NP_899055.1:p.Ile355Val, NP_899055.1:p.Ile355Leu, NP_899054.1:p.Ile338Val, NP_899054.1:p.Ile338Leu, NP_001271443.1:p.Ile186Val, NP_001271443.1:p.Ile186Leu, NP_001271444.1:p.Ile186Val, NP_001271444.1:p.Ile186Leu, NP_001244337.1:p.Ile399Val, NP_001244337.1:p.Ile399Leu, NP_001244338.1:p.Ile360Val, NP_001244338.1:p.Ile360Leu, NP_001244339.1:p.Ile346Val, NP_001244339.1:p.Ile346Leu, NP_001244343.1:p.Ile299Val, NP_001244343.1:p.Ile299Leu, NP_001244340.1:p.Ile290Val, NP_001244340.1:p.Ile290Leu, NP_001244341.1:p.Ile251Val, NP_001244341.1:p.Ile251Leu, NP_001244342.1:p.Ile212Val, NP_001244342.1:p.Ile212Leu, NP_001271445.1:p.Ile186Val, NP_001271445.1:p.Ile186Leu, XP_047291581.1:p.Ile400Val, XP_047291581.1:p.Ile400Leu

                                16.

                                rs1435931657 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  17:39766470 (GRCh38)
                                  17:37922723 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:39766469:C:T
                                  Gene:
                                  IKZF3 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  HGVS:
                                  NC_000017.11:g.39766470C>T, NC_000017.10:g.37922723C>T, NG_029104.2:g.102719G>A, NM_012481.5:c.850G>A, NM_012481.4:c.850G>A, NM_183230.3:c.733G>A, NM_183230.2:c.733G>A, NM_183229.3:c.733G>A, NM_183229.2:c.733G>A, NM_183228.3:c.682G>A, NM_183228.2:c.682G>A, NM_183232.3:c.616G>A, NM_183232.2:c.616G>A, NM_183231.3:c.565G>A, NM_183231.2:c.565G>A, NM_001284514.2:c.109G>A, NM_001284514.1:c.109G>A, NM_001284515.2:c.109G>A, NM_001284515.1:c.109G>A, NM_001257408.2:c.748G>A, NM_001257408.1:c.748G>A, NM_001257409.2:c.631G>A, NM_001257409.1:c.631G>A, NM_001257410.2:c.589G>A, NM_001257410.1:c.589G>A, NM_001257414.2:c.448G>A, NM_001257414.1:c.448G>A, NM_001257411.2:c.421G>A, NM_001257411.1:c.421G>A, NM_001257412.2:c.304G>A, NM_001257412.1:c.304G>A, NM_001257413.2:c.187G>A, NM_001257413.1:c.187G>A, NM_001284516.1:c.109G>A, NR_047559.1:n.1038G>A, NR_047560.1:n.870G>A, XM_047435625.1:c.751G>A, NR_047561.1:n.482G>A, NP_036613.2:p.Val284Ile, NP_899053.1:p.Val245Ile, NP_899052.1:p.Val245Ile, NP_899051.1:p.Val228Ile, NP_899055.1:p.Val206Ile, NP_899054.1:p.Val189Ile, NP_001271443.1:p.Val37Ile, NP_001271444.1:p.Val37Ile, NP_001244337.1:p.Val250Ile, NP_001244338.1:p.Val211Ile, NP_001244339.1:p.Val197Ile, NP_001244343.1:p.Val150Ile, NP_001244340.1:p.Val141Ile, NP_001244341.1:p.Val102Ile, NP_001244342.1:p.Val63Ile, NP_001271445.1:p.Val37Ile, XP_047291581.1:p.Val251Ile

                                  17.

                                  rs1435045506 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    17:39766087 (GRCh38)
                                    17:37922340 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:39766086:G:A
                                    Gene:
                                    IKZF3 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000017.11:g.39766087G>A, NC_000017.10:g.37922340G>A, NG_029104.2:g.103102C>T, NM_012481.5:c.1233C>T, NM_012481.4:c.1233C>T, NM_183230.3:c.1116C>T, NM_183230.2:c.1116C>T, NM_183229.3:c.1116C>T, NM_183229.2:c.1116C>T, NM_183228.3:c.1065C>T, NM_183228.2:c.1065C>T, NM_183232.3:c.999C>T, NM_183232.2:c.999C>T, NM_183231.3:c.948C>T, NM_183231.2:c.948C>T, NM_001284514.2:c.492C>T, NM_001284514.1:c.492C>T, NM_001284515.2:c.492C>T, NM_001284515.1:c.492C>T, NM_001257408.2:c.1131C>T, NM_001257408.1:c.1131C>T, NM_001257409.2:c.1014C>T, NM_001257409.1:c.1014C>T, NM_001257410.2:c.972C>T, NM_001257410.1:c.972C>T, NM_001257414.2:c.831C>T, NM_001257414.1:c.831C>T, NM_001257411.2:c.804C>T, NM_001257411.1:c.804C>T, NM_001257412.2:c.687C>T, NM_001257412.1:c.687C>T, NM_001257413.2:c.570C>T, NM_001257413.1:c.570C>T, NM_001284516.1:c.492C>T, NR_047559.1:n.1421C>T, NR_047560.1:n.1253C>T, XM_047435625.1:c.1134C>T, NR_047561.1:n.865C>T

                                    18.

                                    rs1434210451 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:39765963 (GRCh38)
                                      17:37922216 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:39765962:G:A
                                      Gene:
                                      IKZF3 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000008/2 (TOPMED)
                                      A=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000017.11:g.39765963G>A, NC_000017.10:g.37922216G>A, NG_029104.2:g.103226C>T, NM_012481.5:c.1357C>T, NM_012481.4:c.1357C>T, NM_183230.3:c.1240C>T, NM_183230.2:c.1240C>T, NM_183229.3:c.1240C>T, NM_183229.2:c.1240C>T, NM_183228.3:c.1189C>T, NM_183228.2:c.1189C>T, NM_183232.3:c.1123C>T, NM_183232.2:c.1123C>T, NM_183231.3:c.1072C>T, NM_183231.2:c.1072C>T, NM_001284514.2:c.616C>T, NM_001284514.1:c.616C>T, NM_001284515.2:c.616C>T, NM_001284515.1:c.616C>T, NM_001257408.2:c.1255C>T, NM_001257408.1:c.1255C>T, NM_001257409.2:c.1138C>T, NM_001257409.1:c.1138C>T, NM_001257410.2:c.1096C>T, NM_001257410.1:c.1096C>T, NM_001257414.2:c.955C>T, NM_001257414.1:c.955C>T, NM_001257411.2:c.928C>T, NM_001257411.1:c.928C>T, NM_001257412.2:c.811C>T, NM_001257412.1:c.811C>T, NM_001257413.2:c.694C>T, NM_001257413.1:c.694C>T, NM_001284516.1:c.616C>T, NR_047559.1:n.1545C>T, NR_047560.1:n.1377C>T, XM_047435625.1:c.1258C>T, NR_047561.1:n.989C>T, NP_036613.2:p.Arg453Trp, NP_899053.1:p.Arg414Trp, NP_899052.1:p.Arg414Trp, NP_899051.1:p.Arg397Trp, NP_899055.1:p.Arg375Trp, NP_899054.1:p.Arg358Trp, NP_001271443.1:p.Arg206Trp, NP_001271444.1:p.Arg206Trp, NP_001244337.1:p.Arg419Trp, NP_001244338.1:p.Arg380Trp, NP_001244339.1:p.Arg366Trp, NP_001244343.1:p.Arg319Trp, NP_001244340.1:p.Arg310Trp, NP_001244341.1:p.Arg271Trp, NP_001244342.1:p.Arg232Trp, NP_001271445.1:p.Arg206Trp, XP_047291581.1:p.Arg420Trp

                                      19.

                                      rs1433918743 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        17:39766180 (GRCh38)
                                        17:37922433 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:39766179:G:A
                                        Gene:
                                        IKZF3 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.39766180G>A, NC_000017.10:g.37922433G>A, NG_029104.2:g.103009C>T, NM_012481.5:c.1140C>T, NM_012481.4:c.1140C>T, NM_183230.3:c.1023C>T, NM_183230.2:c.1023C>T, NM_183229.3:c.1023C>T, NM_183229.2:c.1023C>T, NM_183228.3:c.972C>T, NM_183228.2:c.972C>T, NM_183232.3:c.906C>T, NM_183232.2:c.906C>T, NM_183231.3:c.855C>T, NM_183231.2:c.855C>T, NM_001284514.2:c.399C>T, NM_001284514.1:c.399C>T, NM_001284515.2:c.399C>T, NM_001284515.1:c.399C>T, NM_001257408.2:c.1038C>T, NM_001257408.1:c.1038C>T, NM_001257409.2:c.921C>T, NM_001257409.1:c.921C>T, NM_001257410.2:c.879C>T, NM_001257410.1:c.879C>T, NM_001257414.2:c.738C>T, NM_001257414.1:c.738C>T, NM_001257411.2:c.711C>T, NM_001257411.1:c.711C>T, NM_001257412.2:c.594C>T, NM_001257412.1:c.594C>T, NM_001257413.2:c.477C>T, NM_001257413.1:c.477C>T, NM_001284516.1:c.399C>T, NR_047559.1:n.1328C>T, NR_047560.1:n.1160C>T, XM_047435625.1:c.1041C>T, NR_047561.1:n.772C>T

                                        20.

                                        rs1432830537 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          17:39766434 (GRCh38)
                                          17:37922687 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:39766433:T:C
                                          Gene:
                                          IKZF3 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          C=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000017.11:g.39766434T>C, NC_000017.10:g.37922687T>C, NG_029104.2:g.102755A>G, NM_012481.5:c.886A>G, NM_012481.4:c.886A>G, NM_183230.3:c.769A>G, NM_183230.2:c.769A>G, NM_183229.3:c.769A>G, NM_183229.2:c.769A>G, NM_183228.3:c.718A>G, NM_183228.2:c.718A>G, NM_183232.3:c.652A>G, NM_183232.2:c.652A>G, NM_183231.3:c.601A>G, NM_183231.2:c.601A>G, NM_001284514.2:c.145A>G, NM_001284514.1:c.145A>G, NM_001284515.2:c.145A>G, NM_001284515.1:c.145A>G, NM_001257408.2:c.784A>G, NM_001257408.1:c.784A>G, NM_001257409.2:c.667A>G, NM_001257409.1:c.667A>G, NM_001257410.2:c.625A>G, NM_001257410.1:c.625A>G, NM_001257414.2:c.484A>G, NM_001257414.1:c.484A>G, NM_001257411.2:c.457A>G, NM_001257411.1:c.457A>G, NM_001257412.2:c.340A>G, NM_001257412.1:c.340A>G, NM_001257413.2:c.223A>G, NM_001257413.1:c.223A>G, NM_001284516.1:c.145A>G, NR_047559.1:n.1074A>G, NR_047560.1:n.906A>G, XM_047435625.1:c.787A>G, NR_047561.1:n.518A>G, NP_036613.2:p.Ser296Gly, NP_899053.1:p.Ser257Gly, NP_899052.1:p.Ser257Gly, NP_899051.1:p.Ser240Gly, NP_899055.1:p.Ser218Gly, NP_899054.1:p.Ser201Gly, NP_001271443.1:p.Ser49Gly, NP_001271444.1:p.Ser49Gly, NP_001244337.1:p.Ser262Gly, NP_001244338.1:p.Ser223Gly, NP_001244339.1:p.Ser209Gly, NP_001244343.1:p.Ser162Gly, NP_001244340.1:p.Ser153Gly, NP_001244341.1:p.Ser114Gly, NP_001244342.1:p.Ser75Gly, NP_001271445.1:p.Ser49Gly, XP_047291581.1:p.Ser263Gly

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