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Items: 1 to 20 of 244

1.

rs1489840152 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    19:5039839 (GRCh38)
    19:5039850 (GRCh37)
    Canonical SPDI:
    NC_000019.10:5039838:A:G
    Gene:
    KDM4B (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.5039839A>G, NC_000019.9:g.5039850A>G, XM_005259521.5:c.145A>G, XM_005259521.4:c.145A>G, XM_005259521.3:c.145A>G, XM_005259521.2:c.145A>G, XM_005259521.1:c.145A>G, XM_017026505.3:c.145A>G, XM_017026505.2:c.145A>G, XM_017026505.1:c.145A>G, XM_011527819.3:c.145A>G, XM_011527819.2:c.145A>G, XM_011527819.1:c.145A>G, XM_011527820.3:c.145A>G, XM_011527820.2:c.145A>G, XM_011527820.1:c.145A>G, XM_011527821.3:c.145A>G, XM_011527821.2:c.145A>G, XM_011527821.1:c.145A>G, NM_015015.3:c.145A>G, NM_015015.2:c.145A>G, XM_011527814.3:c.-132A>G, XM_011527814.2:c.-132A>G, XM_011527814.1:c.-132A>G, XM_017026504.3:c.145A>G, XM_017026504.2:c.145A>G, XM_017026504.1:c.145A>G, XM_011527822.3:c.145A>G, XM_011527822.2:c.145A>G, XM_011527822.1:c.145A>G, XM_017026503.2:c.145A>G, XM_017026503.1:c.145A>G, XM_047438470.1:c.145A>G, XM_047438471.1:c.145A>G, NM_001411148.1:c.145A>G, XM_047438472.1:c.145A>G, NM_001370093.1:c.145A>G, NM_001370094.1:c.145A>G, XR_007066691.1:n.371A>G, XP_005259578.2:p.Ile49Val, XP_016881994.1:p.Ile49Val, XP_011526121.1:p.Ile49Val, XP_011526122.1:p.Ile49Val, XP_011526123.1:p.Ile49Val, NP_055830.1:p.Ile49Val, XP_016881993.1:p.Ile49Val, XP_011526124.1:p.Ile49Val, XP_016881992.1:p.Ile49Val, XP_047294426.1:p.Ile49Val, XP_047294427.1:p.Ile49Val, XP_047294428.1:p.Ile49Val, NP_001357022.1:p.Ile49Val, NP_001357023.1:p.Ile49Val

    2.

    rs1483365071 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      19:5082396 (GRCh38)
      19:5082407 (GRCh37)
      Canonical SPDI:
      NC_000019.10:5082395:C:G,NC_000019.10:5082395:C:T
      Gene:
      KDM4B (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000028/1 (ALFA)
      G=0.000004/1 (TOPMED)
      T=0.000035/1 (TOMMO)
      HGVS:
      NC_000019.10:g.5082396C>G, NC_000019.10:g.5082396C>T, NC_000019.9:g.5082407C>G, NC_000019.9:g.5082407C>T, XM_005259521.5:c.810C>G, XM_005259521.5:c.810C>T, XM_005259521.4:c.810C>G, XM_005259521.4:c.810C>T, XM_005259521.3:c.810C>G, XM_005259521.3:c.810C>T, XM_005259521.2:c.810C>G, XM_005259521.2:c.810C>T, XM_005259521.1:c.810C>G, XM_005259521.1:c.810C>T, XM_017026505.3:c.810C>G, XM_017026505.3:c.810C>T, XM_017026505.2:c.810C>G, XM_017026505.2:c.810C>T, XM_017026505.1:c.810C>G, XM_017026505.1:c.810C>T, XM_011527819.3:c.810C>G, XM_011527819.3:c.810C>T, XM_011527819.2:c.810C>G, XM_011527819.2:c.810C>T, XM_011527819.1:c.810C>G, XM_011527819.1:c.810C>T, XM_011527820.3:c.810C>G, XM_011527820.3:c.810C>T, XM_011527820.2:c.810C>G, XM_011527820.2:c.810C>T, XM_011527820.1:c.810C>G, XM_011527820.1:c.810C>T, XM_011527821.3:c.810C>G, XM_011527821.3:c.810C>T, XM_011527821.2:c.810C>G, XM_011527821.2:c.810C>T, XM_011527821.1:c.810C>G, XM_011527821.1:c.810C>T, NM_015015.3:c.810C>G, NM_015015.3:c.810C>T, NM_015015.2:c.810C>G, NM_015015.2:c.810C>T, XM_011527814.3:c.534C>G, XM_011527814.3:c.534C>T, XM_011527814.2:c.534C>G, XM_011527814.2:c.534C>T, XM_011527814.1:c.534C>G, XM_011527814.1:c.534C>T, XM_017026504.3:c.810C>G, XM_017026504.3:c.810C>T, XM_017026504.2:c.810C>G, XM_017026504.2:c.810C>T, XM_017026504.1:c.810C>G, XM_017026504.1:c.810C>T, XM_011527822.3:c.810C>G, XM_011527822.3:c.810C>T, XM_011527822.2:c.810C>G, XM_011527822.2:c.810C>T, XM_011527822.1:c.810C>G, XM_011527822.1:c.810C>T, XM_017026503.2:c.810C>G, XM_017026503.2:c.810C>T, XM_017026503.1:c.810C>G, XM_017026503.1:c.810C>T, XM_047438470.1:c.810C>G, XM_047438470.1:c.810C>T, XM_047438471.1:c.810C>G, XM_047438471.1:c.810C>T, NM_001411148.1:c.810C>G, NM_001411148.1:c.810C>T, XM_047438472.1:c.810C>G, XM_047438472.1:c.810C>T, NM_001370093.1:c.810C>G, NM_001370093.1:c.810C>T, NM_001370094.1:c.810C>G, NM_001370094.1:c.810C>T, XR_007066691.1:n.986C>G, XR_007066691.1:n.986C>T, XP_005259578.2:p.Ile270Met, XP_016881994.1:p.Ile270Met, XP_011526121.1:p.Ile270Met, XP_011526122.1:p.Ile270Met, XP_011526123.1:p.Ile270Met, NP_055830.1:p.Ile270Met, XP_011526116.1:p.Ile178Met, XP_016881993.1:p.Ile270Met, XP_011526124.1:p.Ile270Met, XP_016881992.1:p.Ile270Met, XP_047294426.1:p.Ile270Met, XP_047294427.1:p.Ile270Met, XP_047294428.1:p.Ile270Met, NP_001357022.1:p.Ile270Met, NP_001357023.1:p.Ile270Met

      3.

      rs1483224538 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        19:5047658 (GRCh38)
        19:5047669 (GRCh37)
        Canonical SPDI:
        NC_000019.10:5047657:G:A
        Gene:
        KDM4B (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
        HGVS:
        NC_000019.10:g.5047658G>A, NC_000019.9:g.5047669G>A, XM_005259521.5:c.615G>A, XM_005259521.4:c.615G>A, XM_005259521.3:c.615G>A, XM_005259521.2:c.615G>A, XM_005259521.1:c.615G>A, XM_017026505.3:c.615G>A, XM_017026505.2:c.615G>A, XM_017026505.1:c.615G>A, XM_011527819.3:c.615G>A, XM_011527819.2:c.615G>A, XM_011527819.1:c.615G>A, XM_011527820.3:c.615G>A, XM_011527820.2:c.615G>A, XM_011527820.1:c.615G>A, XM_011527821.3:c.615G>A, XM_011527821.2:c.615G>A, XM_011527821.1:c.615G>A, NM_015015.3:c.615G>A, NM_015015.2:c.615G>A, XM_011527814.3:c.339G>A, XM_011527814.2:c.339G>A, XM_011527814.1:c.339G>A, XM_017026504.3:c.615G>A, XM_017026504.2:c.615G>A, XM_017026504.1:c.615G>A, XM_011527822.3:c.615G>A, XM_011527822.2:c.615G>A, XM_011527822.1:c.615G>A, XM_017026503.2:c.615G>A, XM_017026503.1:c.615G>A, XM_047438470.1:c.615G>A, XM_047438471.1:c.615G>A, NM_001411148.1:c.615G>A, XM_047438472.1:c.615G>A, NM_001370093.1:c.615G>A, NM_001370094.1:c.615G>A, XR_007066691.1:n.841G>A

        4.

        rs1480950229 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          19:5077445 (GRCh38)
          19:5077456 (GRCh37)
          Canonical SPDI:
          NC_000019.10:5077444:A:G
          Gene:
          KDM4B (Varview)
          Functional Consequence:
          non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          G=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000019.10:g.5077445A>G, NC_000019.9:g.5077456A>G, XM_005259521.5:c.755A>G, XM_005259521.4:c.755A>G, XM_005259521.3:c.755A>G, XM_005259521.2:c.755A>G, XM_005259521.1:c.755A>G, XM_017026505.3:c.755A>G, XM_017026505.2:c.755A>G, XM_017026505.1:c.755A>G, XM_011527819.3:c.755A>G, XM_011527819.2:c.755A>G, XM_011527819.1:c.755A>G, XM_011527820.3:c.755A>G, XM_011527820.2:c.755A>G, XM_011527820.1:c.755A>G, XM_011527821.3:c.755A>G, XM_011527821.2:c.755A>G, XM_011527821.1:c.755A>G, NM_015015.3:c.755A>G, NM_015015.2:c.755A>G, XM_011527814.3:c.479A>G, XM_011527814.2:c.479A>G, XM_011527814.1:c.479A>G, XM_017026504.3:c.755A>G, XM_017026504.2:c.755A>G, XM_017026504.1:c.755A>G, XM_011527822.3:c.755A>G, XM_011527822.2:c.755A>G, XM_011527822.1:c.755A>G, XM_017026503.2:c.755A>G, XM_017026503.1:c.755A>G, XM_047438470.1:c.755A>G, XM_047438471.1:c.755A>G, NM_001411148.1:c.755A>G, XM_047438472.1:c.755A>G, NM_001370093.1:c.755A>G, NM_001370094.1:c.755A>G, XR_007066691.1:n.931A>G, XP_005259578.2:p.Lys252Arg, XP_016881994.1:p.Lys252Arg, XP_011526121.1:p.Lys252Arg, XP_011526122.1:p.Lys252Arg, XP_011526123.1:p.Lys252Arg, NP_055830.1:p.Lys252Arg, XP_011526116.1:p.Lys160Arg, XP_016881993.1:p.Lys252Arg, XP_011526124.1:p.Lys252Arg, XP_016881992.1:p.Lys252Arg, XP_047294426.1:p.Lys252Arg, XP_047294427.1:p.Lys252Arg, XP_047294428.1:p.Lys252Arg, NP_001357022.1:p.Lys252Arg, NP_001357023.1:p.Lys252Arg

          5.

          rs1478991540 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:5041197 (GRCh38)
            19:5041208 (GRCh37)
            Canonical SPDI:
            NC_000019.10:5041196:C:T
            Gene:
            KDM4B (Varview)
            Functional Consequence:
            non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000019.10:g.5041197C>T, NC_000019.9:g.5041208C>T, XM_005259521.5:c.378C>T, XM_005259521.4:c.378C>T, XM_005259521.3:c.378C>T, XM_005259521.2:c.378C>T, XM_005259521.1:c.378C>T, XM_017026505.3:c.378C>T, XM_017026505.2:c.378C>T, XM_017026505.1:c.378C>T, XM_011527819.3:c.378C>T, XM_011527819.2:c.378C>T, XM_011527819.1:c.378C>T, XM_011527820.3:c.378C>T, XM_011527820.2:c.378C>T, XM_011527820.1:c.378C>T, XM_011527821.3:c.378C>T, XM_011527821.2:c.378C>T, XM_011527821.1:c.378C>T, NM_015015.3:c.378C>T, NM_015015.2:c.378C>T, XM_011527814.3:c.102C>T, XM_011527814.2:c.102C>T, XM_011527814.1:c.102C>T, XM_017026504.3:c.378C>T, XM_017026504.2:c.378C>T, XM_017026504.1:c.378C>T, XM_011527822.3:c.378C>T, XM_011527822.2:c.378C>T, XM_011527822.1:c.378C>T, XM_017026503.2:c.378C>T, XM_017026503.1:c.378C>T, XM_047438470.1:c.378C>T, XM_047438471.1:c.378C>T, NM_001411148.1:c.378C>T, XM_047438472.1:c.378C>T, NM_001370093.1:c.378C>T, NM_001370094.1:c.378C>T, XR_007066691.1:n.604C>T

            6.

            rs1470477522 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:5047497 (GRCh38)
              19:5047508 (GRCh37)
              Canonical SPDI:
              NC_000019.10:5047496:G:A
              Gene:
              KDM4B (Varview)
              Functional Consequence:
              non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000071/1 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000008/2 (TOPMED)
              HGVS:
              NC_000019.10:g.5047497G>A, NC_000019.9:g.5047508G>A, XM_005259521.5:c.454G>A, XM_005259521.4:c.454G>A, XM_005259521.3:c.454G>A, XM_005259521.2:c.454G>A, XM_005259521.1:c.454G>A, XM_017026505.3:c.454G>A, XM_017026505.2:c.454G>A, XM_017026505.1:c.454G>A, XM_011527819.3:c.454G>A, XM_011527819.2:c.454G>A, XM_011527819.1:c.454G>A, XM_011527820.3:c.454G>A, XM_011527820.2:c.454G>A, XM_011527820.1:c.454G>A, XM_011527821.3:c.454G>A, XM_011527821.2:c.454G>A, XM_011527821.1:c.454G>A, NM_015015.3:c.454G>A, NM_015015.2:c.454G>A, XM_011527814.3:c.178G>A, XM_011527814.2:c.178G>A, XM_011527814.1:c.178G>A, XM_017026504.3:c.454G>A, XM_017026504.2:c.454G>A, XM_017026504.1:c.454G>A, XM_011527822.3:c.454G>A, XM_011527822.2:c.454G>A, XM_011527822.1:c.454G>A, XM_017026503.2:c.454G>A, XM_017026503.1:c.454G>A, XM_047438470.1:c.454G>A, XM_047438471.1:c.454G>A, NM_001411148.1:c.454G>A, XM_047438472.1:c.454G>A, NM_001370093.1:c.454G>A, NM_001370094.1:c.454G>A, XR_007066691.1:n.680G>A, XP_005259578.2:p.Gly152Arg, XP_016881994.1:p.Gly152Arg, XP_011526121.1:p.Gly152Arg, XP_011526122.1:p.Gly152Arg, XP_011526123.1:p.Gly152Arg, NP_055830.1:p.Gly152Arg, XP_011526116.1:p.Gly60Arg, XP_016881993.1:p.Gly152Arg, XP_011526124.1:p.Gly152Arg, XP_016881992.1:p.Gly152Arg, XP_047294426.1:p.Gly152Arg, XP_047294427.1:p.Gly152Arg, XP_047294428.1:p.Gly152Arg, NP_001357022.1:p.Gly152Arg, NP_001357023.1:p.Gly152Arg

              7.

              rs1468009703 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                19:5033000 (GRCh38)
                19:5033011 (GRCh37)
                Canonical SPDI:
                NC_000019.10:5032999:C:T
                Gene:
                KDM4B (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                T=0.000008/2 (GnomAD_exomes)
                T=0.000035/1 (TOMMO)
                HGVS:
                NC_000019.10:g.5033000C>T, NC_000019.9:g.5033011C>T, XM_005259521.5:c.110C>T, XM_005259521.4:c.110C>T, XM_005259521.3:c.110C>T, XM_005259521.2:c.110C>T, XM_005259521.1:c.110C>T, XM_017026505.3:c.110C>T, XM_017026505.2:c.110C>T, XM_017026505.1:c.110C>T, XM_011527819.3:c.110C>T, XM_011527819.2:c.110C>T, XM_011527819.1:c.110C>T, XM_011527820.3:c.110C>T, XM_011527820.2:c.110C>T, XM_011527820.1:c.110C>T, XM_011527821.3:c.110C>T, XM_011527821.2:c.110C>T, XM_011527821.1:c.110C>T, NM_015015.3:c.110C>T, NM_015015.2:c.110C>T, XM_017026504.3:c.110C>T, XM_017026504.2:c.110C>T, XM_017026504.1:c.110C>T, XM_011527822.3:c.110C>T, XM_011527822.2:c.110C>T, XM_011527822.1:c.110C>T, XM_017026503.2:c.110C>T, XM_017026503.1:c.110C>T, XM_047438470.1:c.110C>T, XM_047438471.1:c.110C>T, NM_001411148.1:c.110C>T, XM_047438472.1:c.110C>T, NM_001370093.1:c.110C>T, NM_001370094.1:c.110C>T, XR_007066691.1:n.336C>T, XP_005259578.2:p.Ser37Leu, XP_016881994.1:p.Ser37Leu, XP_011526121.1:p.Ser37Leu, XP_011526122.1:p.Ser37Leu, XP_011526123.1:p.Ser37Leu, NP_055830.1:p.Ser37Leu, XP_016881993.1:p.Ser37Leu, XP_011526124.1:p.Ser37Leu, XP_016881992.1:p.Ser37Leu, XP_047294426.1:p.Ser37Leu, XP_047294427.1:p.Ser37Leu, XP_047294428.1:p.Ser37Leu, NP_001357022.1:p.Ser37Leu, NP_001357023.1:p.Ser37Leu

                8.

                rs1467608195 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:5041236 (GRCh38)
                  19:5041247 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:5041235:C:T
                  Gene:
                  KDM4B (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000007/1 (GnomAD)
                  T=0.000011/3 (TOPMED)
                  HGVS:
                  NC_000019.10:g.5041236C>T, NC_000019.9:g.5041247C>T, XM_005259521.5:c.417C>T, XM_005259521.4:c.417C>T, XM_005259521.3:c.417C>T, XM_005259521.2:c.417C>T, XM_005259521.1:c.417C>T, XM_017026505.3:c.417C>T, XM_017026505.2:c.417C>T, XM_017026505.1:c.417C>T, XM_011527819.3:c.417C>T, XM_011527819.2:c.417C>T, XM_011527819.1:c.417C>T, XM_011527820.3:c.417C>T, XM_011527820.2:c.417C>T, XM_011527820.1:c.417C>T, XM_011527821.3:c.417C>T, XM_011527821.2:c.417C>T, XM_011527821.1:c.417C>T, NM_015015.3:c.417C>T, NM_015015.2:c.417C>T, XM_011527814.3:c.141C>T, XM_011527814.2:c.141C>T, XM_011527814.1:c.141C>T, XM_017026504.3:c.417C>T, XM_017026504.2:c.417C>T, XM_017026504.1:c.417C>T, XM_011527822.3:c.417C>T, XM_011527822.2:c.417C>T, XM_011527822.1:c.417C>T, XM_017026503.2:c.417C>T, XM_017026503.1:c.417C>T, XM_047438470.1:c.417C>T, XM_047438471.1:c.417C>T, NM_001411148.1:c.417C>T, XM_047438472.1:c.417C>T, NM_001370093.1:c.417C>T, NM_001370094.1:c.417C>T, XR_007066691.1:n.643C>T

                  9.

                  rs1459591837 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C,T [Show Flanks]
                    Chromosome:
                    19:5039868 (GRCh38)
                    19:5039879 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:5039867:G:C,NC_000019.10:5039867:G:T
                    Gene:
                    KDM4B (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
                    HGVS:
                    NC_000019.10:g.5039868G>C, NC_000019.10:g.5039868G>T, NC_000019.9:g.5039879G>C, NC_000019.9:g.5039879G>T, XM_005259521.5:c.174G>C, XM_005259521.5:c.174G>T, XM_005259521.4:c.174G>C, XM_005259521.4:c.174G>T, XM_005259521.3:c.174G>C, XM_005259521.3:c.174G>T, XM_005259521.2:c.174G>C, XM_005259521.2:c.174G>T, XM_005259521.1:c.174G>C, XM_005259521.1:c.174G>T, XM_017026505.3:c.174G>C, XM_017026505.3:c.174G>T, XM_017026505.2:c.174G>C, XM_017026505.2:c.174G>T, XM_017026505.1:c.174G>C, XM_017026505.1:c.174G>T, XM_011527819.3:c.174G>C, XM_011527819.3:c.174G>T, XM_011527819.2:c.174G>C, XM_011527819.2:c.174G>T, XM_011527819.1:c.174G>C, XM_011527819.1:c.174G>T, XM_011527820.3:c.174G>C, XM_011527820.3:c.174G>T, XM_011527820.2:c.174G>C, XM_011527820.2:c.174G>T, XM_011527820.1:c.174G>C, XM_011527820.1:c.174G>T, XM_011527821.3:c.174G>C, XM_011527821.3:c.174G>T, XM_011527821.2:c.174G>C, XM_011527821.2:c.174G>T, XM_011527821.1:c.174G>C, XM_011527821.1:c.174G>T, NM_015015.3:c.174G>C, NM_015015.3:c.174G>T, NM_015015.2:c.174G>C, NM_015015.2:c.174G>T, XM_011527814.3:c.-103G>C, XM_011527814.3:c.-103G>T, XM_011527814.2:c.-103G>C, XM_011527814.2:c.-103G>T, XM_011527814.1:c.-103G>C, XM_011527814.1:c.-103G>T, XM_017026504.3:c.174G>C, XM_017026504.3:c.174G>T, XM_017026504.2:c.174G>C, XM_017026504.2:c.174G>T, XM_017026504.1:c.174G>C, XM_017026504.1:c.174G>T, XM_011527822.3:c.174G>C, XM_011527822.3:c.174G>T, XM_011527822.2:c.174G>C, XM_011527822.2:c.174G>T, XM_011527822.1:c.174G>C, XM_011527822.1:c.174G>T, XM_017026503.2:c.174G>C, XM_017026503.2:c.174G>T, XM_017026503.1:c.174G>C, XM_017026503.1:c.174G>T, XM_047438470.1:c.174G>C, XM_047438470.1:c.174G>T, XM_047438471.1:c.174G>C, XM_047438471.1:c.174G>T, NM_001411148.1:c.174G>C, NM_001411148.1:c.174G>T, XM_047438472.1:c.174G>C, XM_047438472.1:c.174G>T, NM_001370093.1:c.174G>C, NM_001370093.1:c.174G>T, NM_001370094.1:c.174G>C, NM_001370094.1:c.174G>T, XR_007066691.1:n.400G>C, XR_007066691.1:n.400G>T, XP_005259578.2:p.Gln58His, XP_005259578.2:p.Gln58His, XP_016881994.1:p.Gln58His, XP_016881994.1:p.Gln58His, XP_011526121.1:p.Gln58His, XP_011526121.1:p.Gln58His, XP_011526122.1:p.Gln58His, XP_011526122.1:p.Gln58His, XP_011526123.1:p.Gln58His, XP_011526123.1:p.Gln58His, NP_055830.1:p.Gln58His, NP_055830.1:p.Gln58His, XP_016881993.1:p.Gln58His, XP_016881993.1:p.Gln58His, XP_011526124.1:p.Gln58His, XP_011526124.1:p.Gln58His, XP_016881992.1:p.Gln58His, XP_016881992.1:p.Gln58His, XP_047294426.1:p.Gln58His, XP_047294426.1:p.Gln58His, XP_047294427.1:p.Gln58His, XP_047294427.1:p.Gln58His, XP_047294428.1:p.Gln58His, XP_047294428.1:p.Gln58His, NP_001357022.1:p.Gln58His, NP_001357022.1:p.Gln58His, NP_001357023.1:p.Gln58His, NP_001357023.1:p.Gln58His

                    10.

                    rs1453688819 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      19:5088236 (GRCh38)
                      19:5088247 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:5088235:G:A,NC_000019.10:5088235:G:C
                      Gene:
                      KDM4B (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      A=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000019.10:g.5088236G>A, NC_000019.10:g.5088236G>C, NC_000019.9:g.5088247G>A, NC_000019.9:g.5088247G>C, XM_017026505.3:c.931G>A, XM_017026505.3:c.931G>C, XM_017026505.2:c.931G>A, XM_017026505.2:c.931G>C, XM_017026505.1:c.931G>A, XM_017026505.1:c.931G>C, XM_011527819.3:c.931G>A, XM_011527819.3:c.931G>C, XM_011527819.2:c.931G>A, XM_011527819.2:c.931G>C, XM_011527819.1:c.931G>A, XM_011527819.1:c.931G>C, XM_011527820.3:c.931G>A, XM_011527820.3:c.931G>C, XM_011527820.2:c.931G>A, XM_011527820.2:c.931G>C, XM_011527820.1:c.931G>A, XM_011527820.1:c.931G>C, XM_011527821.3:c.931G>A, XM_011527821.3:c.931G>C, XM_011527821.2:c.931G>A, XM_011527821.2:c.931G>C, XM_011527821.1:c.931G>A, XM_011527821.1:c.931G>C, XP_016881994.1:p.Gly311Ser, XP_016881994.1:p.Gly311Arg, XP_011526121.1:p.Gly311Ser, XP_011526121.1:p.Gly311Arg, XP_011526122.1:p.Gly311Ser, XP_011526122.1:p.Gly311Arg, XP_011526123.1:p.Gly311Ser, XP_011526123.1:p.Gly311Arg

                      11.

                      rs1452990403 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:5039995 (GRCh38)
                        19:5040006 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:5039994:C:T
                        Gene:
                        KDM4B (Varview)
                        Functional Consequence:
                        synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000019.10:g.5039995C>T, NC_000019.9:g.5040006C>T, XM_005259521.5:c.301C>T, XM_005259521.4:c.301C>T, XM_005259521.3:c.301C>T, XM_005259521.2:c.301C>T, XM_005259521.1:c.301C>T, XM_017026505.3:c.301C>T, XM_017026505.2:c.301C>T, XM_017026505.1:c.301C>T, XM_011527819.3:c.301C>T, XM_011527819.2:c.301C>T, XM_011527819.1:c.301C>T, XM_011527820.3:c.301C>T, XM_011527820.2:c.301C>T, XM_011527820.1:c.301C>T, XM_011527821.3:c.301C>T, XM_011527821.2:c.301C>T, XM_011527821.1:c.301C>T, NM_015015.3:c.301C>T, NM_015015.2:c.301C>T, XM_011527814.3:c.25C>T, XM_011527814.2:c.25C>T, XM_011527814.1:c.25C>T, XM_017026504.3:c.301C>T, XM_017026504.2:c.301C>T, XM_017026504.1:c.301C>T, XM_011527822.3:c.301C>T, XM_011527822.2:c.301C>T, XM_011527822.1:c.301C>T, XM_017026503.2:c.301C>T, XM_017026503.1:c.301C>T, XM_047438470.1:c.301C>T, XM_047438471.1:c.301C>T, NM_001411148.1:c.301C>T, XM_047438472.1:c.301C>T, NM_001370093.1:c.301C>T, NM_001370094.1:c.301C>T, XR_007066691.1:n.527C>T

                        12.

                        rs1452265328 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          19:5032910 (GRCh38)
                          19:5032921 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:5032909:G:A
                          Gene:
                          KDM4B (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          A=0.000106/2 (TOMMO)
                          HGVS:
                          NC_000019.10:g.5032910G>A, NC_000019.9:g.5032921G>A, XM_005259521.5:c.20G>A, XM_005259521.4:c.20G>A, XM_005259521.3:c.20G>A, XM_005259521.2:c.20G>A, XM_005259521.1:c.20G>A, XM_017026505.3:c.20G>A, XM_017026505.2:c.20G>A, XM_017026505.1:c.20G>A, XM_011527819.3:c.20G>A, XM_011527819.2:c.20G>A, XM_011527819.1:c.20G>A, XM_011527820.3:c.20G>A, XM_011527820.2:c.20G>A, XM_011527820.1:c.20G>A, XM_011527821.3:c.20G>A, XM_011527821.2:c.20G>A, XM_011527821.1:c.20G>A, NM_015015.3:c.20G>A, NM_015015.2:c.20G>A, XM_017026504.3:c.20G>A, XM_017026504.2:c.20G>A, XM_017026504.1:c.20G>A, XM_011527822.3:c.20G>A, XM_011527822.2:c.20G>A, XM_011527822.1:c.20G>A, XM_017026503.2:c.20G>A, XM_017026503.1:c.20G>A, XM_047438470.1:c.20G>A, XM_047438471.1:c.20G>A, NM_001411148.1:c.20G>A, XM_047438472.1:c.20G>A, NM_001370093.1:c.20G>A, NM_001370094.1:c.20G>A, XR_007066691.1:n.246G>A, XP_005259578.2:p.Gly7Asp, XP_016881994.1:p.Gly7Asp, XP_011526121.1:p.Gly7Asp, XP_011526122.1:p.Gly7Asp, XP_011526123.1:p.Gly7Asp, NP_055830.1:p.Gly7Asp, XP_016881993.1:p.Gly7Asp, XP_011526124.1:p.Gly7Asp, XP_016881992.1:p.Gly7Asp, XP_047294426.1:p.Gly7Asp, XP_047294427.1:p.Gly7Asp, XP_047294428.1:p.Gly7Asp, NP_001357022.1:p.Gly7Asp, NP_001357023.1:p.Gly7Asp

                          13.

                          rs1446270108 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            19:5039892 (GRCh38)
                            19:5039903 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:5039891:G:A
                            Gene:
                            KDM4B (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000028/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000019.10:g.5039892G>A, NC_000019.9:g.5039903G>A, XM_005259521.5:c.198G>A, XM_005259521.4:c.198G>A, XM_005259521.3:c.198G>A, XM_005259521.2:c.198G>A, XM_005259521.1:c.198G>A, XM_017026505.3:c.198G>A, XM_017026505.2:c.198G>A, XM_017026505.1:c.198G>A, XM_011527819.3:c.198G>A, XM_011527819.2:c.198G>A, XM_011527819.1:c.198G>A, XM_011527820.3:c.198G>A, XM_011527820.2:c.198G>A, XM_011527820.1:c.198G>A, XM_011527821.3:c.198G>A, XM_011527821.2:c.198G>A, XM_011527821.1:c.198G>A, NM_015015.3:c.198G>A, NM_015015.2:c.198G>A, XM_011527814.3:c.-79G>A, XM_011527814.2:c.-79G>A, XM_011527814.1:c.-79G>A, XM_017026504.3:c.198G>A, XM_017026504.2:c.198G>A, XM_017026504.1:c.198G>A, XM_011527822.3:c.198G>A, XM_011527822.2:c.198G>A, XM_011527822.1:c.198G>A, XM_017026503.2:c.198G>A, XM_017026503.1:c.198G>A, XM_047438470.1:c.198G>A, XM_047438471.1:c.198G>A, NM_001411148.1:c.198G>A, XM_047438472.1:c.198G>A, NM_001370093.1:c.198G>A, NM_001370094.1:c.198G>A, XR_007066691.1:n.424G>A

                            14.

                            rs1440353753 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              19:5039934 (GRCh38)
                              19:5039945 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:5039933:G:A
                              Gene:
                              KDM4B (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000019.10:g.5039934G>A, NC_000019.9:g.5039945G>A, XM_005259521.5:c.240G>A, XM_005259521.4:c.240G>A, XM_005259521.3:c.240G>A, XM_005259521.2:c.240G>A, XM_005259521.1:c.240G>A, XM_017026505.3:c.240G>A, XM_017026505.2:c.240G>A, XM_017026505.1:c.240G>A, XM_011527819.3:c.240G>A, XM_011527819.2:c.240G>A, XM_011527819.1:c.240G>A, XM_011527820.3:c.240G>A, XM_011527820.2:c.240G>A, XM_011527820.1:c.240G>A, XM_011527821.3:c.240G>A, XM_011527821.2:c.240G>A, XM_011527821.1:c.240G>A, NM_015015.3:c.240G>A, NM_015015.2:c.240G>A, XM_011527814.3:c.-37G>A, XM_011527814.2:c.-37G>A, XM_011527814.1:c.-37G>A, XM_017026504.3:c.240G>A, XM_017026504.2:c.240G>A, XM_017026504.1:c.240G>A, XM_011527822.3:c.240G>A, XM_011527822.2:c.240G>A, XM_011527822.1:c.240G>A, XM_017026503.2:c.240G>A, XM_017026503.1:c.240G>A, XM_047438470.1:c.240G>A, XM_047438471.1:c.240G>A, NM_001411148.1:c.240G>A, XM_047438472.1:c.240G>A, NM_001370093.1:c.240G>A, NM_001370094.1:c.240G>A, XR_007066691.1:n.466G>A

                              15.

                              rs1437943272 [Homo sapiens]
                                Variant type:
                                DEL
                                Alleles:
                                A>- [Show Flanks]
                                Chromosome:
                                19:5088274 (GRCh38)
                                19:5088285 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:5088273:A:
                                Gene:
                                KDM4B (Varview)
                                Functional Consequence:
                                frameshift_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                -=0./0 (ALFA)
                                -=0.000004/1 (TOPMED)
                                HGVS:

                                16.

                                rs1436065958 [Homo sapiens]
                                  Variant type:
                                  DEL
                                  Alleles:
                                  A>- [Show Flanks]
                                  Chromosome:
                                  19:5041231 (GRCh38)
                                  19:5041242 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:5041230:A:
                                  Gene:
                                  KDM4B (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  -=0./0 (ALFA)
                                  HGVS:
                                  NC_000019.10:g.5041231del, NC_000019.9:g.5041242del, XM_005259521.5:c.412del, XM_005259521.4:c.412del, XM_005259521.3:c.412del, XM_005259521.2:c.412del, XM_005259521.1:c.412del, XM_017026505.3:c.412del, XM_017026505.2:c.412del, XM_017026505.1:c.412del, XM_011527819.3:c.412del, XM_011527819.2:c.412del, XM_011527819.1:c.412del, XM_011527820.3:c.412del, XM_011527820.2:c.412del, XM_011527820.1:c.412del, XM_011527821.3:c.412del, XM_011527821.2:c.412del, XM_011527821.1:c.412del, NM_015015.3:c.412del, NM_015015.2:c.412del, XM_011527814.3:c.136del, XM_011527814.2:c.136del, XM_011527814.1:c.136del, XM_017026504.3:c.412del, XM_017026504.2:c.412del, XM_017026504.1:c.412del, XM_011527822.3:c.412del, XM_011527822.2:c.412del, XM_011527822.1:c.412del, XM_017026503.2:c.412del, XM_017026503.1:c.412del, XM_047438470.1:c.412del, XM_047438471.1:c.412del, NM_001411148.1:c.412del, XM_047438472.1:c.412del, NM_001370093.1:c.412del, NM_001370094.1:c.412del, XR_007066691.1:n.638del, XP_005259578.2:p.Ser138fs, XP_016881994.1:p.Ser138fs, XP_011526121.1:p.Ser138fs, XP_011526122.1:p.Ser138fs, XP_011526123.1:p.Ser138fs, NP_055830.1:p.Ser138fs, XP_011526116.1:p.Ser46fs, XP_016881993.1:p.Ser138fs, XP_011526124.1:p.Ser138fs, XP_016881992.1:p.Ser138fs, XP_047294426.1:p.Ser138fs, XP_047294427.1:p.Ser138fs, XP_047294428.1:p.Ser138fs, NP_001357022.1:p.Ser138fs, NP_001357023.1:p.Ser138fs

                                  17.

                                  rs1435232612 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A [Show Flanks]
                                    Chromosome:
                                    19:5047514 (GRCh38)
                                    19:5047525 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:5047513:C:A
                                    Gene:
                                    KDM4B (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000019.10:g.5047514C>A, NC_000019.9:g.5047525C>A, XM_005259521.5:c.471C>A, XM_005259521.4:c.471C>A, XM_005259521.3:c.471C>A, XM_005259521.2:c.471C>A, XM_005259521.1:c.471C>A, XM_017026505.3:c.471C>A, XM_017026505.2:c.471C>A, XM_017026505.1:c.471C>A, XM_011527819.3:c.471C>A, XM_011527819.2:c.471C>A, XM_011527819.1:c.471C>A, XM_011527820.3:c.471C>A, XM_011527820.2:c.471C>A, XM_011527820.1:c.471C>A, XM_011527821.3:c.471C>A, XM_011527821.2:c.471C>A, XM_011527821.1:c.471C>A, NM_015015.3:c.471C>A, NM_015015.2:c.471C>A, XM_011527814.3:c.195C>A, XM_011527814.2:c.195C>A, XM_011527814.1:c.195C>A, XM_017026504.3:c.471C>A, XM_017026504.2:c.471C>A, XM_017026504.1:c.471C>A, XM_011527822.3:c.471C>A, XM_011527822.2:c.471C>A, XM_011527822.1:c.471C>A, XM_017026503.2:c.471C>A, XM_017026503.1:c.471C>A, XM_047438470.1:c.471C>A, XM_047438471.1:c.471C>A, NM_001411148.1:c.471C>A, XM_047438472.1:c.471C>A, NM_001370093.1:c.471C>A, NM_001370094.1:c.471C>A, XR_007066691.1:n.697C>A

                                    18.

                                    rs1433829074 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      19:5032905 (GRCh38)
                                      19:5032916 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:5032904:C:T
                                      Gene:
                                      KDM4B (Varview)
                                      Functional Consequence:
                                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000019.10:g.5032905C>T, NC_000019.9:g.5032916C>T, XM_005259521.5:c.15C>T, XM_005259521.4:c.15C>T, XM_005259521.3:c.15C>T, XM_005259521.2:c.15C>T, XM_005259521.1:c.15C>T, XM_017026505.3:c.15C>T, XM_017026505.2:c.15C>T, XM_017026505.1:c.15C>T, XM_011527819.3:c.15C>T, XM_011527819.2:c.15C>T, XM_011527819.1:c.15C>T, XM_011527820.3:c.15C>T, XM_011527820.2:c.15C>T, XM_011527820.1:c.15C>T, XM_011527821.3:c.15C>T, XM_011527821.2:c.15C>T, XM_011527821.1:c.15C>T, NM_015015.3:c.15C>T, NM_015015.2:c.15C>T, XM_017026504.3:c.15C>T, XM_017026504.2:c.15C>T, XM_017026504.1:c.15C>T, XM_011527822.3:c.15C>T, XM_011527822.2:c.15C>T, XM_011527822.1:c.15C>T, XM_017026503.2:c.15C>T, XM_017026503.1:c.15C>T, XM_047438470.1:c.15C>T, XM_047438471.1:c.15C>T, NM_001411148.1:c.15C>T, XM_047438472.1:c.15C>T, NM_001370093.1:c.15C>T, NM_001370094.1:c.15C>T, XR_007066691.1:n.241C>T

                                      19.

                                      rs1424147271 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        19:5039848 (GRCh38)
                                        19:5039859 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:5039847:A:C
                                        Gene:
                                        KDM4B (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        C=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.5039848A>C, NC_000019.9:g.5039859A>C, XM_005259521.5:c.154A>C, XM_005259521.4:c.154A>C, XM_005259521.3:c.154A>C, XM_005259521.2:c.154A>C, XM_005259521.1:c.154A>C, XM_017026505.3:c.154A>C, XM_017026505.2:c.154A>C, XM_017026505.1:c.154A>C, XM_011527819.3:c.154A>C, XM_011527819.2:c.154A>C, XM_011527819.1:c.154A>C, XM_011527820.3:c.154A>C, XM_011527820.2:c.154A>C, XM_011527820.1:c.154A>C, XM_011527821.3:c.154A>C, XM_011527821.2:c.154A>C, XM_011527821.1:c.154A>C, NM_015015.3:c.154A>C, NM_015015.2:c.154A>C, XM_011527814.3:c.-123A>C, XM_011527814.2:c.-123A>C, XM_011527814.1:c.-123A>C, XM_017026504.3:c.154A>C, XM_017026504.2:c.154A>C, XM_017026504.1:c.154A>C, XM_011527822.3:c.154A>C, XM_011527822.2:c.154A>C, XM_011527822.1:c.154A>C, XM_017026503.2:c.154A>C, XM_017026503.1:c.154A>C, XM_047438470.1:c.154A>C, XM_047438471.1:c.154A>C, NM_001411148.1:c.154A>C, XM_047438472.1:c.154A>C, NM_001370093.1:c.154A>C, NM_001370094.1:c.154A>C, XR_007066691.1:n.380A>C, XP_005259578.2:p.Lys52Gln, XP_016881994.1:p.Lys52Gln, XP_011526121.1:p.Lys52Gln, XP_011526122.1:p.Lys52Gln, XP_011526123.1:p.Lys52Gln, NP_055830.1:p.Lys52Gln, XP_016881993.1:p.Lys52Gln, XP_011526124.1:p.Lys52Gln, XP_016881992.1:p.Lys52Gln, XP_047294426.1:p.Lys52Gln, XP_047294427.1:p.Lys52Gln, XP_047294428.1:p.Lys52Gln, NP_001357022.1:p.Lys52Gln, NP_001357023.1:p.Lys52Gln

                                        20.

                                        rs1422788948 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          19:5039983 (GRCh38)
                                          19:5039994 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:5039982:G:A
                                          Gene:
                                          KDM4B (Varview)
                                          Functional Consequence:
                                          genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000019.10:g.5039983G>A, NC_000019.9:g.5039994G>A, XM_005259521.5:c.289G>A, XM_005259521.4:c.289G>A, XM_005259521.3:c.289G>A, XM_005259521.2:c.289G>A, XM_005259521.1:c.289G>A, XM_017026505.3:c.289G>A, XM_017026505.2:c.289G>A, XM_017026505.1:c.289G>A, XM_011527819.3:c.289G>A, XM_011527819.2:c.289G>A, XM_011527819.1:c.289G>A, XM_011527820.3:c.289G>A, XM_011527820.2:c.289G>A, XM_011527820.1:c.289G>A, XM_011527821.3:c.289G>A, XM_011527821.2:c.289G>A, XM_011527821.1:c.289G>A, NM_015015.3:c.289G>A, NM_015015.2:c.289G>A, XM_011527814.3:c.13G>A, XM_011527814.2:c.13G>A, XM_011527814.1:c.13G>A, XM_017026504.3:c.289G>A, XM_017026504.2:c.289G>A, XM_017026504.1:c.289G>A, XM_011527822.3:c.289G>A, XM_011527822.2:c.289G>A, XM_011527822.1:c.289G>A, XM_017026503.2:c.289G>A, XM_017026503.1:c.289G>A, XM_047438470.1:c.289G>A, XM_047438471.1:c.289G>A, NM_001411148.1:c.289G>A, XM_047438472.1:c.289G>A, NM_001370093.1:c.289G>A, NM_001370094.1:c.289G>A, XR_007066691.1:n.515G>A, XP_005259578.2:p.Glu97Lys, XP_016881994.1:p.Glu97Lys, XP_011526121.1:p.Glu97Lys, XP_011526122.1:p.Glu97Lys, XP_011526123.1:p.Glu97Lys, NP_055830.1:p.Glu97Lys, XP_011526116.1:p.Glu5Lys, XP_016881993.1:p.Glu97Lys, XP_011526124.1:p.Glu97Lys, XP_016881992.1:p.Glu97Lys, XP_047294426.1:p.Glu97Lys, XP_047294427.1:p.Glu97Lys, XP_047294428.1:p.Glu97Lys, NP_001357022.1:p.Glu97Lys, NP_001357023.1:p.Glu97Lys

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