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Items: 1 to 20 of 345

1.

rs1490288939 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    19:38217464 (GRCh38)
    19:38708104 (GRCh37)
    Canonical SPDI:
    NC_000019.10:38217463:A:G
    Gene:
    DPF1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000011/3 (TOPMED)
    HGVS:
    NC_000019.10:g.38217464A>G, NC_000019.9:g.38708104A>G, XM_005259292.6:c.720T>C, XM_005259292.5:c.720T>C, XM_005259292.4:c.720T>C, XM_005259292.3:c.720T>C, XM_005259292.2:c.720T>C, XM_005259292.1:c.720T>C, XM_006723408.4:c.720T>C, XM_006723408.3:c.720T>C, XM_006723408.2:c.720T>C, XM_006723408.1:c.720T>C, XM_011527358.3:c.558T>C, XM_011527358.2:c.558T>C, XM_011527358.1:c.558T>C, XM_006723407.3:c.726T>C, XM_006723407.2:c.726T>C, XM_006723407.1:c.726T>C, NM_001135156.3:c.558T>C, NM_001135156.2:c.558T>C, NM_001135156.1:c.558T>C, XM_011527357.3:c.720T>C, XM_011527357.2:c.720T>C, XM_011527357.1:c.720T>C, NM_001135155.3:c.723T>C, NM_001135155.2:c.804T>C, NM_001135155.1:c.804T>C, XM_005259289.3:c.723T>C, XM_005259289.2:c.804T>C, XM_005259289.1:c.804T>C, XM_006723409.3:c.258T>C, XM_006723409.2:c.258T>C, XM_006723409.1:c.258T>C, NM_001289978.2:c.723T>C, NM_001289978.1:c.804T>C, XM_024451731.2:c.720T>C, XM_024451731.1:c.720T>C, XM_011527356.2:c.723T>C, XM_011527356.1:c.804T>C, XM_006723410.2:c.258T>C, XM_006723410.1:c.258T>C, NM_001363579.1:c.726T>C, XM_047439490.1:c.717T>C, XM_047439492.1:c.726T>C, XM_047439491.1:c.717T>C, XM_047439493.1:c.726T>C

    2.

    rs1487960981 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      19:38213728 (GRCh38)
      19:38704368 (GRCh37)
      Canonical SPDI:
      NC_000019.10:38213727:C:T
      Gene:
      DPF1 (Varview)
      Functional Consequence:
      synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.000031/1 (ALFA)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000019.10:g.38213728C>T, NC_000019.9:g.38704368C>T, XM_005259292.6:c.873G>A, XM_005259292.5:c.873G>A, XM_005259292.4:c.873G>A, XM_005259292.3:c.873G>A, XM_005259292.2:c.873G>A, XM_005259292.1:c.873G>A, XM_006723408.4:c.924G>A, XM_006723408.3:c.924G>A, XM_006723408.2:c.924G>A, XM_006723408.1:c.924G>A, NM_004647.4:c.795G>A, NM_004647.3:c.876G>A, NM_004647.2:c.876G>A, XM_011527358.3:c.762G>A, XM_011527358.2:c.762G>A, XM_011527358.1:c.762G>A, XM_006723407.3:c.930G>A, XM_006723407.2:c.930G>A, XM_006723407.1:c.930G>A, NM_001135156.3:c.762G>A, NM_001135156.2:c.762G>A, NM_001135156.1:c.762G>A, XM_011527357.3:c.873G>A, XM_011527357.2:c.873G>A, XM_011527357.1:c.873G>A, NM_001135155.3:c.927G>A, NM_001135155.2:c.1008G>A, NM_001135155.1:c.1008G>A, XM_005259289.3:c.876G>A, XM_005259289.2:c.957G>A, XM_005259289.1:c.957G>A, XM_006723409.3:c.462G>A, XM_006723409.2:c.462G>A, XM_006723409.1:c.462G>A, NM_001289978.2:c.927G>A, NM_001289978.1:c.1008G>A, XM_024451731.2:c.924G>A, XM_024451731.1:c.924G>A, XM_011527356.2:c.876G>A, XM_011527356.1:c.957G>A, XM_006723410.2:c.462G>A, XM_006723410.1:c.462G>A, NM_001363579.1:c.930G>A, XM_047439490.1:c.921G>A, XM_047439492.1:c.879G>A, XM_047439491.1:c.921G>A, XM_047439493.1:c.879G>A

      3.

      rs1487355727 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        19:38219026 (GRCh38)
        19:38709666 (GRCh37)
        Canonical SPDI:
        NC_000019.10:38219025:G:T
        Gene:
        DPF1 (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000071/1 (ALFA)
        T=0.000007/1 (GnomAD)
        T=0.000008/2 (TOPMED)
        HGVS:
        NC_000019.10:g.38219026G>T, NC_000019.9:g.38709666G>T, XM_005259292.6:c.334C>A, XM_005259292.5:c.334C>A, XM_005259292.4:c.334C>A, XM_005259292.3:c.334C>A, XM_005259292.2:c.334C>A, XM_005259292.1:c.334C>A, XM_006723408.4:c.334C>A, XM_006723408.3:c.334C>A, XM_006723408.2:c.334C>A, XM_006723408.1:c.334C>A, NM_004647.4:c.331C>A, NM_004647.3:c.412C>A, NM_004647.2:c.412C>A, XM_011527358.3:c.166C>A, XM_011527358.2:c.166C>A, XM_011527358.1:c.166C>A, XM_006723407.3:c.334C>A, XM_006723407.2:c.334C>A, XM_006723407.1:c.334C>A, NM_001135156.3:c.166C>A, NM_001135156.2:c.166C>A, NM_001135156.1:c.166C>A, XM_011527357.3:c.334C>A, XM_011527357.2:c.334C>A, XM_011527357.1:c.334C>A, NM_001135155.3:c.331C>A, NM_001135155.2:c.412C>A, NM_001135155.1:c.412C>A, XM_005259289.3:c.331C>A, XM_005259289.2:c.412C>A, XM_005259289.1:c.412C>A, NM_001289978.2:c.331C>A, NM_001289978.1:c.412C>A, XM_024451731.2:c.334C>A, XM_024451731.1:c.334C>A, XM_011527356.2:c.331C>A, XM_011527356.1:c.412C>A, NM_001363579.1:c.334C>A, XM_047439490.1:c.331C>A, XM_047439492.1:c.334C>A, XM_047439491.1:c.331C>A, XM_047439493.1:c.334C>A, XM_047439494.1:c.334C>A, XP_005259349.1:p.Leu112Ile, XP_006723471.1:p.Leu112Ile, NP_004638.3:p.Leu111Ile, XP_011525660.1:p.Leu56Ile, XP_006723470.1:p.Leu112Ile, NP_001128628.1:p.Leu56Ile, XP_011525659.1:p.Leu112Ile, NP_001128627.2:p.Leu111Ile, XP_005259346.2:p.Leu111Ile, NP_001276907.2:p.Leu111Ile, XP_024307499.1:p.Leu112Ile, XP_011525658.2:p.Leu111Ile, NP_001350508.1:p.Leu112Ile, XP_047295446.1:p.Leu111Ile, XP_047295448.1:p.Leu112Ile, XP_047295447.1:p.Leu111Ile, XP_047295449.1:p.Leu112Ile, XP_047295450.1:p.Leu112Ile

        4.

        rs1484042087 [Homo sapiens]
          Variant type:
          INS
          Alleles:
          ->CT [Show Flanks]
          Chromosome:
          19:38229569 (GRCh38)
          19:38720210 (GRCh37)
          Canonical SPDI:
          NC_000019.10:38229569::CT
          Gene:
          DPF1 (Varview)
          Functional Consequence:
          5_prime_UTR_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
          HGVS:
          NC_000019.10:g.38229569_38229570insCT, NC_000019.9:g.38720209_38720210insCT, XM_005259292.6:c.21_22insAG, XM_005259292.5:c.21_22insAG, XM_005259292.4:c.21_22insAG, XM_005259292.3:c.21_22insAG, XM_005259292.2:c.21_22insAG, XM_005259292.1:c.21_22insAG, XM_006723408.4:c.21_22insAG, XM_006723408.3:c.21_22insAG, XM_006723408.2:c.21_22insAG, XM_006723408.1:c.21_22insAG, XM_006723407.3:c.21_22insAG, XM_006723407.2:c.21_22insAG, XM_006723407.1:c.21_22insAG, NM_001135156.3:c.-143_-142insAG, NM_001135156.2:c.-143_-142insAG, NM_001135156.1:c.-143_-142insAG, XM_011527357.3:c.21_22insAG, XM_011527357.2:c.21_22insAG, XM_011527357.1:c.21_22insAG, XM_024451731.2:c.21_22insAG, XM_024451731.1:c.21_22insAG, NM_001363579.1:c.21_22insAG, XM_047439492.1:c.21_22insAG, XM_047439493.1:c.21_22insAG, XM_047439494.1:c.21_22insAG, XP_005259349.1:p.Pro8fs, XP_006723471.1:p.Pro8fs, XP_006723470.1:p.Pro8fs, XP_011525659.1:p.Pro8fs, XP_024307499.1:p.Pro8fs, NP_001350508.1:p.Pro8fs, XP_047295448.1:p.Pro8fs, XP_047295449.1:p.Pro8fs, XP_047295450.1:p.Pro8fs

          5.

          rs1482851515 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            19:38218961 (GRCh38)
            19:38709601 (GRCh37)
            Canonical SPDI:
            NC_000019.10:38218960:C:T
            Gene:
            DPF1 (Varview)
            Functional Consequence:
            5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa
            MAF:
            T=0./0 (ALFA)
            HGVS:
            NC_000019.10:g.38218961C>T, NC_000019.9:g.38709601C>T, XM_005259292.6:c.399G>A, XM_005259292.5:c.399G>A, XM_005259292.4:c.399G>A, XM_005259292.3:c.399G>A, XM_005259292.2:c.399G>A, XM_005259292.1:c.399G>A, XM_006723408.4:c.399G>A, XM_006723408.3:c.399G>A, XM_006723408.2:c.399G>A, XM_006723408.1:c.399G>A, NM_004647.4:c.396G>A, NM_004647.3:c.477G>A, NM_004647.2:c.477G>A, XM_011527358.3:c.231G>A, XM_011527358.2:c.231G>A, XM_011527358.1:c.231G>A, XM_006723407.3:c.399G>A, XM_006723407.2:c.399G>A, XM_006723407.1:c.399G>A, NM_001135156.3:c.231G>A, NM_001135156.2:c.231G>A, NM_001135156.1:c.231G>A, XM_011527357.3:c.399G>A, XM_011527357.2:c.399G>A, XM_011527357.1:c.399G>A, NM_001135155.3:c.396G>A, NM_001135155.2:c.477G>A, NM_001135155.1:c.477G>A, XM_005259289.3:c.396G>A, XM_005259289.2:c.477G>A, XM_005259289.1:c.477G>A, XM_006723409.3:c.-56G>A, XM_006723409.2:c.-56G>A, XM_006723409.1:c.-56G>A, NM_001289978.2:c.396G>A, NM_001289978.1:c.477G>A, XM_024451731.2:c.399G>A, XM_024451731.1:c.399G>A, XM_011527356.2:c.396G>A, XM_011527356.1:c.477G>A, XM_006723410.2:c.-50G>A, XM_006723410.1:c.-50G>A, NM_001363579.1:c.399G>A, XM_047439490.1:c.396G>A, XM_047439492.1:c.399G>A, XM_047439491.1:c.396G>A, XM_047439493.1:c.399G>A, XM_047439494.1:c.399G>A

            6.

            rs1481143258 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              19:38218631 (GRCh38)
              19:38709271 (GRCh37)
              Canonical SPDI:
              NC_000019.10:38218630:A:G
              Gene:
              DPF1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              HGVS:
              NC_000019.10:g.38218631A>G, NC_000019.9:g.38709271A>G, XM_005259292.6:c.455T>C, XM_005259292.5:c.455T>C, XM_005259292.4:c.455T>C, XM_005259292.3:c.455T>C, XM_005259292.2:c.455T>C, XM_005259292.1:c.455T>C, XM_006723408.4:c.455T>C, XM_006723408.3:c.455T>C, XM_006723408.2:c.455T>C, XM_006723408.1:c.455T>C, NM_004647.4:c.458T>C, NM_004647.3:c.539T>C, NM_004647.2:c.539T>C, XM_011527358.3:c.293T>C, XM_011527358.2:c.293T>C, XM_011527358.1:c.293T>C, XM_006723407.3:c.461T>C, XM_006723407.2:c.461T>C, XM_006723407.1:c.461T>C, NM_001135156.3:c.293T>C, NM_001135156.2:c.293T>C, NM_001135156.1:c.293T>C, XM_011527357.3:c.455T>C, XM_011527357.2:c.455T>C, XM_011527357.1:c.455T>C, NM_001135155.3:c.458T>C, NM_001135155.2:c.539T>C, NM_001135155.1:c.539T>C, XM_005259289.3:c.458T>C, XM_005259289.2:c.539T>C, XM_005259289.1:c.539T>C, XM_006723409.3:c.7T>C, XM_006723409.2:c.7T>C, XM_006723409.1:c.7T>C, NM_001289978.2:c.458T>C, NM_001289978.1:c.539T>C, XM_024451731.2:c.455T>C, XM_024451731.1:c.455T>C, XM_011527356.2:c.458T>C, XM_011527356.1:c.539T>C, XM_006723410.2:c.7T>C, XM_006723410.1:c.7T>C, NM_001363579.1:c.461T>C, XM_047439490.1:c.452T>C, XM_047439492.1:c.461T>C, XM_047439491.1:c.452T>C, XM_047439493.1:c.461T>C, XM_047439494.1:c.461T>C, XP_005259349.1:p.Leu152Pro, XP_006723471.1:p.Leu152Pro, NP_004638.3:p.Leu153Pro, XP_011525660.1:p.Leu98Pro, XP_006723470.1:p.Leu154Pro, NP_001128628.1:p.Leu98Pro, XP_011525659.1:p.Leu152Pro, NP_001128627.2:p.Leu153Pro, XP_005259346.2:p.Leu153Pro, XP_006723472.1:p.Ser3Pro, NP_001276907.2:p.Leu153Pro, XP_024307499.1:p.Leu152Pro, XP_011525658.2:p.Leu153Pro, XP_006723473.1:p.Ser3Pro, NP_001350508.1:p.Leu154Pro, XP_047295446.1:p.Leu151Pro, XP_047295448.1:p.Leu154Pro, XP_047295447.1:p.Leu151Pro, XP_047295449.1:p.Leu154Pro, XP_047295450.1:p.Leu154Pro

              7.

              rs1477545932 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                19:38213664 (GRCh38)
                19:38704304 (GRCh37)
                Canonical SPDI:
                NC_000019.10:38213663:A:G
                Gene:
                DPF1 (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000111/1 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000019.10:g.38213664A>G, NC_000019.9:g.38704304A>G, XM_005259292.6:c.937T>C, XM_005259292.5:c.937T>C, XM_005259292.4:c.937T>C, XM_005259292.3:c.937T>C, XM_005259292.2:c.937T>C, XM_005259292.1:c.937T>C, XM_006723408.4:c.988T>C, XM_006723408.3:c.988T>C, XM_006723408.2:c.988T>C, XM_006723408.1:c.988T>C, NM_004647.4:c.859T>C, NM_004647.3:c.940T>C, NM_004647.2:c.940T>C, XM_011527358.3:c.826T>C, XM_011527358.2:c.826T>C, XM_011527358.1:c.826T>C, XM_006723407.3:c.994T>C, XM_006723407.2:c.994T>C, XM_006723407.1:c.994T>C, NM_001135156.3:c.826T>C, NM_001135156.2:c.826T>C, NM_001135156.1:c.826T>C, XM_011527357.3:c.937T>C, XM_011527357.2:c.937T>C, XM_011527357.1:c.937T>C, NM_001135155.3:c.991T>C, NM_001135155.2:c.1072T>C, NM_001135155.1:c.1072T>C, XM_005259289.3:c.940T>C, XM_005259289.2:c.1021T>C, XM_005259289.1:c.1021T>C, XM_006723409.3:c.526T>C, XM_006723409.2:c.526T>C, XM_006723409.1:c.526T>C, NM_001289978.2:c.991T>C, NM_001289978.1:c.1072T>C, XM_024451731.2:c.988T>C, XM_024451731.1:c.988T>C, XM_011527356.2:c.940T>C, XM_011527356.1:c.1021T>C, XM_006723410.2:c.526T>C, XM_006723410.1:c.526T>C, NM_001363579.1:c.994T>C, XM_047439490.1:c.985T>C, XM_047439492.1:c.943T>C, XM_047439491.1:c.985T>C, XM_047439493.1:c.943T>C, XP_005259349.1:p.Cys313Arg, XP_006723471.1:p.Cys330Arg, NP_004638.3:p.Cys287Arg, XP_011525660.1:p.Cys276Arg, XP_006723470.1:p.Cys332Arg, NP_001128628.1:p.Cys276Arg, XP_011525659.1:p.Cys313Arg, NP_001128627.2:p.Cys331Arg, XP_005259346.2:p.Cys314Arg, XP_006723472.1:p.Cys176Arg, NP_001276907.2:p.Cys331Arg, XP_024307499.1:p.Cys330Arg, XP_011525658.2:p.Cys314Arg, XP_006723473.1:p.Cys176Arg, NP_001350508.1:p.Cys332Arg, XP_047295446.1:p.Cys329Arg, XP_047295448.1:p.Cys315Arg, XP_047295447.1:p.Cys329Arg, XP_047295449.1:p.Cys315Arg

                8.

                rs1476395972 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  19:38222557 (GRCh38)
                  19:38713197 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:38222556:G:C
                  Gene:
                  DPF1 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,missense_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)
                  HGVS:
                  NC_000019.10:g.38222557G>C, NC_000019.9:g.38713197G>C, XM_005259292.6:c.184C>G, XM_005259292.5:c.184C>G, XM_005259292.4:c.184C>G, XM_005259292.3:c.184C>G, XM_005259292.2:c.184C>G, XM_005259292.1:c.184C>G, XM_006723408.4:c.184C>G, XM_006723408.3:c.184C>G, XM_006723408.2:c.184C>G, XM_006723408.1:c.184C>G, NM_004647.4:c.181C>G, NM_004647.3:c.262C>G, NM_004647.2:c.262C>G, XM_011527358.3:c.16C>G, XM_011527358.2:c.16C>G, XM_011527358.1:c.16C>G, XM_006723407.3:c.184C>G, XM_006723407.2:c.184C>G, XM_006723407.1:c.184C>G, NM_001135156.3:c.16C>G, NM_001135156.2:c.16C>G, NM_001135156.1:c.16C>G, XM_011527357.3:c.184C>G, XM_011527357.2:c.184C>G, XM_011527357.1:c.184C>G, NM_001135155.3:c.181C>G, NM_001135155.2:c.262C>G, NM_001135155.1:c.262C>G, XM_005259289.3:c.181C>G, XM_005259289.2:c.262C>G, XM_005259289.1:c.262C>G, NM_001289978.2:c.181C>G, NM_001289978.1:c.262C>G, XM_024451731.2:c.184C>G, XM_024451731.1:c.184C>G, XM_011527356.2:c.181C>G, XM_011527356.1:c.262C>G, NM_001363579.1:c.184C>G, XM_047439490.1:c.181C>G, XM_047439492.1:c.184C>G, XM_047439491.1:c.181C>G, XM_047439493.1:c.184C>G, XM_047439494.1:c.184C>G, XP_005259349.1:p.Arg62Gly, XP_006723471.1:p.Arg62Gly, NP_004638.3:p.Arg61Gly, XP_011525660.1:p.Arg6Gly, XP_006723470.1:p.Arg62Gly, NP_001128628.1:p.Arg6Gly, XP_011525659.1:p.Arg62Gly, NP_001128627.2:p.Arg61Gly, XP_005259346.2:p.Arg61Gly, NP_001276907.2:p.Arg61Gly, XP_024307499.1:p.Arg62Gly, XP_011525658.2:p.Arg61Gly, NP_001350508.1:p.Arg62Gly, XP_047295446.1:p.Arg61Gly, XP_047295448.1:p.Arg62Gly, XP_047295447.1:p.Arg61Gly, XP_047295449.1:p.Arg62Gly, XP_047295450.1:p.Arg62Gly

                  9.

                  rs1471146482 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    19:38217506 (GRCh38)
                    19:38708146 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:38217505:G:T
                    Gene:
                    DPF1 (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000049/2 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000019/3 (GnomAD_exomes)
                    HGVS:
                    NC_000019.10:g.38217506G>T, NC_000019.9:g.38708146G>T, XM_005259292.6:c.678C>A, XM_005259292.5:c.678C>A, XM_005259292.4:c.678C>A, XM_005259292.3:c.678C>A, XM_005259292.2:c.678C>A, XM_005259292.1:c.678C>A, XM_006723408.4:c.678C>A, XM_006723408.3:c.678C>A, XM_006723408.2:c.678C>A, XM_006723408.1:c.678C>A, XM_011527358.3:c.516C>A, XM_011527358.2:c.516C>A, XM_011527358.1:c.516C>A, XM_006723407.3:c.684C>A, XM_006723407.2:c.684C>A, XM_006723407.1:c.684C>A, NM_001135156.3:c.516C>A, NM_001135156.2:c.516C>A, NM_001135156.1:c.516C>A, XM_011527357.3:c.678C>A, XM_011527357.2:c.678C>A, XM_011527357.1:c.678C>A, NM_001135155.3:c.681C>A, NM_001135155.2:c.762C>A, NM_001135155.1:c.762C>A, XM_005259289.3:c.681C>A, XM_005259289.2:c.762C>A, XM_005259289.1:c.762C>A, XM_006723409.3:c.216C>A, XM_006723409.2:c.216C>A, XM_006723409.1:c.216C>A, NM_001289978.2:c.681C>A, NM_001289978.1:c.762C>A, XM_024451731.2:c.678C>A, XM_024451731.1:c.678C>A, XM_011527356.2:c.681C>A, XM_011527356.1:c.762C>A, XM_006723410.2:c.216C>A, XM_006723410.1:c.216C>A, NM_001363579.1:c.684C>A, XM_047439490.1:c.675C>A, XM_047439492.1:c.684C>A, XM_047439491.1:c.675C>A, XM_047439493.1:c.684C>A, XM_047439494.1:c.*67C>A, XP_005259349.1:p.Asn226Lys, XP_006723471.1:p.Asn226Lys, XP_011525660.1:p.Asn172Lys, XP_006723470.1:p.Asn228Lys, NP_001128628.1:p.Asn172Lys, XP_011525659.1:p.Asn226Lys, NP_001128627.2:p.Asn227Lys, XP_005259346.2:p.Asn227Lys, XP_006723472.1:p.Asn72Lys, NP_001276907.2:p.Asn227Lys, XP_024307499.1:p.Asn226Lys, XP_011525658.2:p.Asn227Lys, XP_006723473.1:p.Asn72Lys, NP_001350508.1:p.Asn228Lys, XP_047295446.1:p.Asn225Lys, XP_047295448.1:p.Asn228Lys, XP_047295447.1:p.Asn225Lys, XP_047295449.1:p.Asn228Lys

                    10.

                    rs1470648029 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      19:38216163 (GRCh38)
                      19:38706803 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:38216162:G:A
                      Gene:
                      DPF1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000019.10:g.38216163G>A, NC_000019.9:g.38706803G>A, XM_005259292.6:c.821C>T, XM_005259292.5:c.821C>T, XM_005259292.4:c.821C>T, XM_005259292.3:c.821C>T, XM_005259292.2:c.821C>T, XM_005259292.1:c.821C>T, XM_006723408.4:c.872C>T, XM_006723408.3:c.872C>T, XM_006723408.2:c.872C>T, XM_006723408.1:c.872C>T, NM_004647.4:c.743C>T, NM_004647.3:c.824C>T, NM_004647.2:c.824C>T, XM_011527358.3:c.710C>T, XM_011527358.2:c.710C>T, XM_011527358.1:c.710C>T, XM_006723407.3:c.878C>T, XM_006723407.2:c.878C>T, XM_006723407.1:c.878C>T, NM_001135156.3:c.710C>T, NM_001135156.2:c.710C>T, NM_001135156.1:c.710C>T, XM_011527357.3:c.821C>T, XM_011527357.2:c.821C>T, XM_011527357.1:c.821C>T, NM_001135155.3:c.875C>T, NM_001135155.2:c.956C>T, NM_001135155.1:c.956C>T, XM_005259289.3:c.824C>T, XM_005259289.2:c.905C>T, XM_005259289.1:c.905C>T, XM_006723409.3:c.410C>T, XM_006723409.2:c.410C>T, XM_006723409.1:c.410C>T, NM_001289978.2:c.875C>T, NM_001289978.1:c.956C>T, XM_024451731.2:c.872C>T, XM_024451731.1:c.872C>T, XM_011527356.2:c.824C>T, XM_011527356.1:c.905C>T, XM_006723410.2:c.410C>T, XM_006723410.1:c.410C>T, NM_001363579.1:c.878C>T, XM_047439490.1:c.869C>T, XM_047439492.1:c.827C>T, XM_047439491.1:c.869C>T, XM_047439493.1:c.827C>T, XP_005259349.1:p.Ser274Phe, XP_006723471.1:p.Ser291Phe, NP_004638.3:p.Ser248Phe, XP_011525660.1:p.Ser237Phe, XP_006723470.1:p.Ser293Phe, NP_001128628.1:p.Ser237Phe, XP_011525659.1:p.Ser274Phe, NP_001128627.2:p.Ser292Phe, XP_005259346.2:p.Ser275Phe, XP_006723472.1:p.Ser137Phe, NP_001276907.2:p.Ser292Phe, XP_024307499.1:p.Ser291Phe, XP_011525658.2:p.Ser275Phe, XP_006723473.1:p.Ser137Phe, NP_001350508.1:p.Ser293Phe, XP_047295446.1:p.Ser290Phe, XP_047295448.1:p.Ser276Phe, XP_047295447.1:p.Ser290Phe, XP_047295449.1:p.Ser276Phe

                      11.

                      rs1470161762 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        19:38222415 (GRCh38)
                        19:38713055 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:38222414:C:T
                        Gene:
                        DPF1 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000019.10:g.38222415C>T, NC_000019.9:g.38713055C>T, XM_005259292.6:c.243G>A, XM_005259292.5:c.243G>A, XM_005259292.4:c.243G>A, XM_005259292.3:c.243G>A, XM_005259292.2:c.243G>A, XM_005259292.1:c.243G>A, XM_006723408.4:c.243G>A, XM_006723408.3:c.243G>A, XM_006723408.2:c.243G>A, XM_006723408.1:c.243G>A, NM_004647.4:c.240G>A, NM_004647.3:c.321G>A, NM_004647.2:c.321G>A, XM_011527358.3:c.75G>A, XM_011527358.2:c.75G>A, XM_011527358.1:c.75G>A, XM_006723407.3:c.243G>A, XM_006723407.2:c.243G>A, XM_006723407.1:c.243G>A, NM_001135156.3:c.75G>A, NM_001135156.2:c.75G>A, NM_001135156.1:c.75G>A, XM_011527357.3:c.243G>A, XM_011527357.2:c.243G>A, XM_011527357.1:c.243G>A, NM_001135155.3:c.240G>A, NM_001135155.2:c.321G>A, NM_001135155.1:c.321G>A, XM_005259289.3:c.240G>A, XM_005259289.2:c.321G>A, XM_005259289.1:c.321G>A, NM_001289978.2:c.240G>A, NM_001289978.1:c.321G>A, XM_024451731.2:c.243G>A, XM_024451731.1:c.243G>A, XM_011527356.2:c.240G>A, XM_011527356.1:c.321G>A, NM_001363579.1:c.243G>A, XM_047439490.1:c.240G>A, XM_047439492.1:c.243G>A, XM_047439491.1:c.240G>A, XM_047439493.1:c.243G>A, XM_047439494.1:c.243G>A

                        12.

                        rs1469363354 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C [Show Flanks]
                          Chromosome:
                          19:38217859 (GRCh38)
                          19:38708499 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:38217858:A:C
                          Gene:
                          DPF1 (Varview)
                          Functional Consequence:
                          synonymous_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000019.10:g.38217859A>C, NC_000019.9:g.38708499A>C, XM_005259292.6:c.531T>G, XM_005259292.5:c.531T>G, XM_005259292.4:c.531T>G, XM_005259292.3:c.531T>G, XM_005259292.2:c.531T>G, XM_005259292.1:c.531T>G, XM_006723408.4:c.531T>G, XM_006723408.3:c.531T>G, XM_006723408.2:c.531T>G, XM_006723408.1:c.531T>G, NM_004647.4:c.534T>G, NM_004647.3:c.615T>G, NM_004647.2:c.615T>G, XM_011527358.3:c.369T>G, XM_011527358.2:c.369T>G, XM_011527358.1:c.369T>G, XM_006723407.3:c.537T>G, XM_006723407.2:c.537T>G, XM_006723407.1:c.537T>G, NM_001135156.3:c.369T>G, NM_001135156.2:c.369T>G, NM_001135156.1:c.369T>G, XM_011527357.3:c.531T>G, XM_011527357.2:c.531T>G, XM_011527357.1:c.531T>G, NM_001135155.3:c.534T>G, NM_001135155.2:c.615T>G, NM_001135155.1:c.615T>G, XM_005259289.3:c.534T>G, XM_005259289.2:c.615T>G, XM_005259289.1:c.615T>G, XM_006723409.3:c.83T>G, XM_006723409.2:c.83T>G, XM_006723409.1:c.83T>G, NM_001289978.2:c.534T>G, NM_001289978.1:c.615T>G, XM_024451731.2:c.531T>G, XM_024451731.1:c.531T>G, XM_011527356.2:c.534T>G, XM_011527356.1:c.615T>G, XM_006723410.2:c.83T>G, XM_006723410.1:c.83T>G, NM_001363579.1:c.537T>G, XM_047439490.1:c.528T>G, XM_047439492.1:c.537T>G, XM_047439491.1:c.528T>G, XM_047439493.1:c.537T>G, XM_047439494.1:c.537T>G, XP_006723472.1:p.Val28Gly, XP_006723473.1:p.Val28Gly

                          13.

                          rs1467149851 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            19:38217537 (GRCh38)
                            19:38708177 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:38217536:G:T
                            Gene:
                            DPF1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,missense_variant,intron_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000028/1 (ALFA)
                            T=0.000008/2 (TOPMED)
                            T=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000019.10:g.38217537G>T, NC_000019.9:g.38708177G>T, XM_005259292.6:c.647C>A, XM_005259292.5:c.647C>A, XM_005259292.4:c.647C>A, XM_005259292.3:c.647C>A, XM_005259292.2:c.647C>A, XM_005259292.1:c.647C>A, XM_006723408.4:c.647C>A, XM_006723408.3:c.647C>A, XM_006723408.2:c.647C>A, XM_006723408.1:c.647C>A, XM_011527358.3:c.485C>A, XM_011527358.2:c.485C>A, XM_011527358.1:c.485C>A, XM_006723407.3:c.653C>A, XM_006723407.2:c.653C>A, XM_006723407.1:c.653C>A, NM_001135156.3:c.485C>A, NM_001135156.2:c.485C>A, NM_001135156.1:c.485C>A, XM_011527357.3:c.647C>A, XM_011527357.2:c.647C>A, XM_011527357.1:c.647C>A, NM_001135155.3:c.650C>A, NM_001135155.2:c.731C>A, NM_001135155.1:c.731C>A, XM_005259289.3:c.650C>A, XM_005259289.2:c.731C>A, XM_005259289.1:c.731C>A, XM_006723409.3:c.185C>A, XM_006723409.2:c.185C>A, XM_006723409.1:c.185C>A, NM_001289978.2:c.650C>A, NM_001289978.1:c.731C>A, XM_024451731.2:c.647C>A, XM_024451731.1:c.647C>A, XM_011527356.2:c.650C>A, XM_011527356.1:c.731C>A, XM_006723410.2:c.185C>A, XM_006723410.1:c.185C>A, NM_001363579.1:c.653C>A, XM_047439490.1:c.644C>A, XM_047439492.1:c.653C>A, XM_047439491.1:c.644C>A, XM_047439493.1:c.653C>A, XM_047439494.1:c.*36C>A, XP_005259349.1:p.Thr216Asn, XP_006723471.1:p.Thr216Asn, XP_011525660.1:p.Thr162Asn, XP_006723470.1:p.Thr218Asn, NP_001128628.1:p.Thr162Asn, XP_011525659.1:p.Thr216Asn, NP_001128627.2:p.Thr217Asn, XP_005259346.2:p.Thr217Asn, XP_006723472.1:p.Thr62Asn, NP_001276907.2:p.Thr217Asn, XP_024307499.1:p.Thr216Asn, XP_011525658.2:p.Thr217Asn, XP_006723473.1:p.Thr62Asn, NP_001350508.1:p.Thr218Asn, XP_047295446.1:p.Thr215Asn, XP_047295448.1:p.Thr218Asn, XP_047295447.1:p.Thr215Asn, XP_047295449.1:p.Thr218Asn

                            14.

                            rs1464843280 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              19:38216238 (GRCh38)
                              19:38706878 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:38216237:G:C
                              Gene:
                              DPF1 (Varview)
                              Functional Consequence:
                              genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (TOPMED)
                              C=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000019.10:g.38216238G>C, NC_000019.9:g.38706878G>C, XM_005259292.6:c.746C>G, XM_005259292.5:c.746C>G, XM_005259292.4:c.746C>G, XM_005259292.3:c.746C>G, XM_005259292.2:c.746C>G, XM_005259292.1:c.746C>G, XM_006723408.4:c.797C>G, XM_006723408.3:c.797C>G, XM_006723408.2:c.797C>G, XM_006723408.1:c.797C>G, NM_004647.4:c.668C>G, NM_004647.3:c.749C>G, NM_004647.2:c.749C>G, XM_011527358.3:c.635C>G, XM_011527358.2:c.635C>G, XM_011527358.1:c.635C>G, XM_006723407.3:c.803C>G, XM_006723407.2:c.803C>G, XM_006723407.1:c.803C>G, NM_001135156.3:c.635C>G, NM_001135156.2:c.635C>G, NM_001135156.1:c.635C>G, XM_011527357.3:c.746C>G, XM_011527357.2:c.746C>G, XM_011527357.1:c.746C>G, NM_001135155.3:c.800C>G, NM_001135155.2:c.881C>G, NM_001135155.1:c.881C>G, XM_005259289.3:c.749C>G, XM_005259289.2:c.830C>G, XM_005259289.1:c.830C>G, XM_006723409.3:c.335C>G, XM_006723409.2:c.335C>G, XM_006723409.1:c.335C>G, NM_001289978.2:c.800C>G, NM_001289978.1:c.881C>G, XM_024451731.2:c.797C>G, XM_024451731.1:c.797C>G, XM_011527356.2:c.749C>G, XM_011527356.1:c.830C>G, XM_006723410.2:c.335C>G, XM_006723410.1:c.335C>G, NM_001363579.1:c.803C>G, XM_047439490.1:c.794C>G, XM_047439492.1:c.752C>G, XM_047439491.1:c.794C>G, XM_047439493.1:c.752C>G, XP_005259349.1:p.Thr249Ser, XP_006723471.1:p.Thr266Ser, NP_004638.3:p.Thr223Ser, XP_011525660.1:p.Thr212Ser, XP_006723470.1:p.Thr268Ser, NP_001128628.1:p.Thr212Ser, XP_011525659.1:p.Thr249Ser, NP_001128627.2:p.Thr267Ser, XP_005259346.2:p.Thr250Ser, XP_006723472.1:p.Thr112Ser, NP_001276907.2:p.Thr267Ser, XP_024307499.1:p.Thr266Ser, XP_011525658.2:p.Thr250Ser, XP_006723473.1:p.Thr112Ser, NP_001350508.1:p.Thr268Ser, XP_047295446.1:p.Thr265Ser, XP_047295448.1:p.Thr251Ser, XP_047295447.1:p.Thr265Ser, XP_047295449.1:p.Thr251Ser

                              15.

                              rs1462073835 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                19:38213729 (GRCh38)
                                19:38704369 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:38213728:A:G
                                Gene:
                                DPF1 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                G=0./0 (ALFA)
                                HGVS:
                                NC_000019.10:g.38213729A>G, NC_000019.9:g.38704369A>G, XM_005259292.6:c.872T>C, XM_005259292.5:c.872T>C, XM_005259292.4:c.872T>C, XM_005259292.3:c.872T>C, XM_005259292.2:c.872T>C, XM_005259292.1:c.872T>C, XM_006723408.4:c.923T>C, XM_006723408.3:c.923T>C, XM_006723408.2:c.923T>C, XM_006723408.1:c.923T>C, NM_004647.4:c.794T>C, NM_004647.3:c.875T>C, NM_004647.2:c.875T>C, XM_011527358.3:c.761T>C, XM_011527358.2:c.761T>C, XM_011527358.1:c.761T>C, XM_006723407.3:c.929T>C, XM_006723407.2:c.929T>C, XM_006723407.1:c.929T>C, NM_001135156.3:c.761T>C, NM_001135156.2:c.761T>C, NM_001135156.1:c.761T>C, XM_011527357.3:c.872T>C, XM_011527357.2:c.872T>C, XM_011527357.1:c.872T>C, NM_001135155.3:c.926T>C, NM_001135155.2:c.1007T>C, NM_001135155.1:c.1007T>C, XM_005259289.3:c.875T>C, XM_005259289.2:c.956T>C, XM_005259289.1:c.956T>C, XM_006723409.3:c.461T>C, XM_006723409.2:c.461T>C, XM_006723409.1:c.461T>C, NM_001289978.2:c.926T>C, NM_001289978.1:c.1007T>C, XM_024451731.2:c.923T>C, XM_024451731.1:c.923T>C, XM_011527356.2:c.875T>C, XM_011527356.1:c.956T>C, XM_006723410.2:c.461T>C, XM_006723410.1:c.461T>C, NM_001363579.1:c.929T>C, XM_047439490.1:c.920T>C, XM_047439492.1:c.878T>C, XM_047439491.1:c.920T>C, XM_047439493.1:c.878T>C, XP_005259349.1:p.Val291Ala, XP_006723471.1:p.Val308Ala, NP_004638.3:p.Val265Ala, XP_011525660.1:p.Val254Ala, XP_006723470.1:p.Val310Ala, NP_001128628.1:p.Val254Ala, XP_011525659.1:p.Val291Ala, NP_001128627.2:p.Val309Ala, XP_005259346.2:p.Val292Ala, XP_006723472.1:p.Val154Ala, NP_001276907.2:p.Val309Ala, XP_024307499.1:p.Val308Ala, XP_011525658.2:p.Val292Ala, XP_006723473.1:p.Val154Ala, NP_001350508.1:p.Val310Ala, XP_047295446.1:p.Val307Ala, XP_047295448.1:p.Val293Ala, XP_047295447.1:p.Val307Ala, XP_047295449.1:p.Val293Ala

                                16.

                                rs1456289275 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  19:38217502 (GRCh38)
                                  19:38708142 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:38217501:C:T
                                  Gene:
                                  DPF1 (Varview)
                                  Functional Consequence:
                                  3_prime_UTR_variant,intron_variant,coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000013/2 (GnomAD_exomes)
                                  T=0.000156/1 (1000Genomes)
                                  HGVS:
                                  NC_000019.10:g.38217502C>T, NC_000019.9:g.38708142C>T, XM_005259292.6:c.682G>A, XM_005259292.5:c.682G>A, XM_005259292.4:c.682G>A, XM_005259292.3:c.682G>A, XM_005259292.2:c.682G>A, XM_005259292.1:c.682G>A, XM_006723408.4:c.682G>A, XM_006723408.3:c.682G>A, XM_006723408.2:c.682G>A, XM_006723408.1:c.682G>A, XM_011527358.3:c.520G>A, XM_011527358.2:c.520G>A, XM_011527358.1:c.520G>A, XM_006723407.3:c.688G>A, XM_006723407.2:c.688G>A, XM_006723407.1:c.688G>A, NM_001135156.3:c.520G>A, NM_001135156.2:c.520G>A, NM_001135156.1:c.520G>A, XM_011527357.3:c.682G>A, XM_011527357.2:c.682G>A, XM_011527357.1:c.682G>A, NM_001135155.3:c.685G>A, NM_001135155.2:c.766G>A, NM_001135155.1:c.766G>A, XM_005259289.3:c.685G>A, XM_005259289.2:c.766G>A, XM_005259289.1:c.766G>A, XM_006723409.3:c.220G>A, XM_006723409.2:c.220G>A, XM_006723409.1:c.220G>A, NM_001289978.2:c.685G>A, NM_001289978.1:c.766G>A, XM_024451731.2:c.682G>A, XM_024451731.1:c.682G>A, XM_011527356.2:c.685G>A, XM_011527356.1:c.766G>A, XM_006723410.2:c.220G>A, XM_006723410.1:c.220G>A, NM_001363579.1:c.688G>A, XM_047439490.1:c.679G>A, XM_047439492.1:c.688G>A, XM_047439491.1:c.679G>A, XM_047439493.1:c.688G>A, XM_047439494.1:c.*71G>A, XP_005259349.1:p.Glu228Lys, XP_006723471.1:p.Glu228Lys, XP_011525660.1:p.Glu174Lys, XP_006723470.1:p.Glu230Lys, NP_001128628.1:p.Glu174Lys, XP_011525659.1:p.Glu228Lys, NP_001128627.2:p.Glu229Lys, XP_005259346.2:p.Glu229Lys, XP_006723472.1:p.Glu74Lys, NP_001276907.2:p.Glu229Lys, XP_024307499.1:p.Glu228Lys, XP_011525658.2:p.Glu229Lys, XP_006723473.1:p.Glu74Lys, NP_001350508.1:p.Glu230Lys, XP_047295446.1:p.Glu227Lys, XP_047295448.1:p.Glu230Lys, XP_047295447.1:p.Glu227Lys, XP_047295449.1:p.Glu230Lys

                                  17.

                                  rs1451922074 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C,G [Show Flanks]
                                    Chromosome:
                                    19:38213659 (GRCh38)
                                    19:38704299 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:38213658:T:C,NC_000019.10:38213658:T:G
                                    Gene:
                                    DPF1 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0.000031/1 (ALFA)
                                    C=0.000007/1 (GnomAD)
                                    C=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000019.10:g.38213659T>C, NC_000019.10:g.38213659T>G, NC_000019.9:g.38704299T>C, NC_000019.9:g.38704299T>G, XM_005259292.6:c.942A>G, XM_005259292.6:c.942A>C, XM_005259292.5:c.942A>G, XM_005259292.5:c.942A>C, XM_005259292.4:c.942A>G, XM_005259292.4:c.942A>C, XM_005259292.3:c.942A>G, XM_005259292.3:c.942A>C, XM_005259292.2:c.942A>G, XM_005259292.2:c.942A>C, XM_005259292.1:c.942A>G, XM_005259292.1:c.942A>C, XM_006723408.4:c.993A>G, XM_006723408.4:c.993A>C, XM_006723408.3:c.993A>G, XM_006723408.3:c.993A>C, XM_006723408.2:c.993A>G, XM_006723408.2:c.993A>C, XM_006723408.1:c.993A>G, XM_006723408.1:c.993A>C, NM_004647.4:c.864A>G, NM_004647.4:c.864A>C, NM_004647.3:c.945A>G, NM_004647.3:c.945A>C, NM_004647.2:c.945A>G, NM_004647.2:c.945A>C, XM_011527358.3:c.831A>G, XM_011527358.3:c.831A>C, XM_011527358.2:c.831A>G, XM_011527358.2:c.831A>C, XM_011527358.1:c.831A>G, XM_011527358.1:c.831A>C, XM_006723407.3:c.999A>G, XM_006723407.3:c.999A>C, XM_006723407.2:c.999A>G, XM_006723407.2:c.999A>C, XM_006723407.1:c.999A>G, XM_006723407.1:c.999A>C, NM_001135156.3:c.831A>G, NM_001135156.3:c.831A>C, NM_001135156.2:c.831A>G, NM_001135156.2:c.831A>C, NM_001135156.1:c.831A>G, NM_001135156.1:c.831A>C, XM_011527357.3:c.942A>G, XM_011527357.3:c.942A>C, XM_011527357.2:c.942A>G, XM_011527357.2:c.942A>C, XM_011527357.1:c.942A>G, XM_011527357.1:c.942A>C, NM_001135155.3:c.996A>G, NM_001135155.3:c.996A>C, NM_001135155.2:c.1077A>G, NM_001135155.2:c.1077A>C, NM_001135155.1:c.1077A>G, NM_001135155.1:c.1077A>C, XM_005259289.3:c.945A>G, XM_005259289.3:c.945A>C, XM_005259289.2:c.1026A>G, XM_005259289.2:c.1026A>C, XM_005259289.1:c.1026A>G, XM_005259289.1:c.1026A>C, XM_006723409.3:c.531A>G, XM_006723409.3:c.531A>C, XM_006723409.2:c.531A>G, XM_006723409.2:c.531A>C, XM_006723409.1:c.531A>G, XM_006723409.1:c.531A>C, NM_001289978.2:c.996A>G, NM_001289978.2:c.996A>C, NM_001289978.1:c.1077A>G, NM_001289978.1:c.1077A>C, XM_024451731.2:c.993A>G, XM_024451731.2:c.993A>C, XM_024451731.1:c.993A>G, XM_024451731.1:c.993A>C, XM_011527356.2:c.945A>G, XM_011527356.2:c.945A>C, XM_011527356.1:c.1026A>G, XM_011527356.1:c.1026A>C, XM_006723410.2:c.531A>G, XM_006723410.2:c.531A>C, XM_006723410.1:c.531A>G, XM_006723410.1:c.531A>C, NM_001363579.1:c.999A>G, NM_001363579.1:c.999A>C, XM_047439490.1:c.990A>G, XM_047439490.1:c.990A>C, XM_047439492.1:c.948A>G, XM_047439492.1:c.948A>C, XM_047439491.1:c.990A>G, XM_047439491.1:c.990A>C, XM_047439493.1:c.948A>G, XM_047439493.1:c.948A>C

                                    18.

                                    rs1448760977 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      19:38212300 (GRCh38)
                                      19:38702940 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:38212299:G:A,NC_000019.10:38212299:G:C
                                      Gene:
                                      DPF1 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000006/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000019.10:g.38212300G>A, NC_000019.10:g.38212300G>C, NC_000019.9:g.38702940G>A, NC_000019.9:g.38702940G>C, XM_005259292.6:c.1019C>T, XM_005259292.6:c.1019C>G, XM_005259292.5:c.1019C>T, XM_005259292.5:c.1019C>G, XM_005259292.4:c.1019C>T, XM_005259292.4:c.1019C>G, XM_005259292.3:c.1019C>T, XM_005259292.3:c.1019C>G, XM_005259292.2:c.1019C>T, XM_005259292.2:c.1019C>G, XM_005259292.1:c.1019C>T, XM_005259292.1:c.1019C>G, XM_006723408.4:c.1100C>T, XM_006723408.4:c.1100C>G, XM_006723408.3:c.1100C>T, XM_006723408.3:c.1100C>G, XM_006723408.2:c.1100C>T, XM_006723408.2:c.1100C>G, XM_006723408.1:c.1100C>T, XM_006723408.1:c.1100C>G, NM_004647.4:c.971C>T, NM_004647.4:c.971C>G, NM_004647.3:c.1052C>T, NM_004647.3:c.1052C>G, NM_004647.2:c.1052C>T, NM_004647.2:c.1052C>G, XM_011527358.3:c.938C>T, XM_011527358.3:c.938C>G, XM_011527358.2:c.938C>T, XM_011527358.2:c.938C>G, XM_011527358.1:c.938C>T, XM_011527358.1:c.938C>G, XM_006723407.3:c.1106C>T, XM_006723407.3:c.1106C>G, XM_006723407.2:c.1106C>T, XM_006723407.2:c.1106C>G, XM_006723407.1:c.1106C>T, XM_006723407.1:c.1106C>G, NM_001135156.3:c.908C>T, NM_001135156.3:c.908C>G, NM_001135156.2:c.908C>T, NM_001135156.2:c.908C>G, NM_001135156.1:c.908C>T, NM_001135156.1:c.908C>G, XM_011527357.3:c.1049C>T, XM_011527357.3:c.1049C>G, XM_011527357.2:c.1049C>T, XM_011527357.2:c.1049C>G, XM_011527357.1:c.1049C>T, XM_011527357.1:c.1049C>G, NM_001135155.3:c.1073C>T, NM_001135155.3:c.1073C>G, NM_001135155.2:c.1154C>T, NM_001135155.2:c.1154C>G, NM_001135155.1:c.1154C>T, NM_001135155.1:c.1154C>G, XM_005259289.3:c.1022C>T, XM_005259289.3:c.1022C>G, XM_005259289.2:c.1103C>T, XM_005259289.2:c.1103C>G, XM_005259289.1:c.1103C>T, XM_005259289.1:c.1103C>G, XM_006723409.3:c.638C>T, XM_006723409.3:c.638C>G, XM_006723409.2:c.638C>T, XM_006723409.2:c.638C>G, XM_006723409.1:c.638C>T, XM_006723409.1:c.638C>G, NM_001289978.2:c.1103C>T, NM_001289978.2:c.1103C>G, NM_001289978.1:c.1184C>T, NM_001289978.1:c.1184C>G, XM_024451731.2:c.1070C>T, XM_024451731.2:c.1070C>G, XM_024451731.1:c.1070C>T, XM_024451731.1:c.1070C>G, XM_011527356.2:c.1052C>T, XM_011527356.2:c.1052C>G, XM_011527356.1:c.1133C>T, XM_011527356.1:c.1133C>G, XM_006723410.2:c.638C>T, XM_006723410.2:c.638C>G, XM_006723410.1:c.638C>T, XM_006723410.1:c.638C>G, NM_001363579.1:c.1076C>T, NM_001363579.1:c.1076C>G, XM_047439490.1:c.1097C>T, XM_047439490.1:c.1097C>G, XM_047439492.1:c.1055C>T, XM_047439492.1:c.1055C>G, XM_047439491.1:c.1067C>T, XM_047439491.1:c.1067C>G, XM_047439493.1:c.1025C>T, XM_047439493.1:c.1025C>G, XP_005259349.1:p.Pro340Leu, XP_005259349.1:p.Pro340Arg, XP_006723471.1:p.Pro367Leu, XP_006723471.1:p.Pro367Arg, NP_004638.3:p.Pro324Leu, NP_004638.3:p.Pro324Arg, XP_011525660.1:p.Pro313Leu, XP_011525660.1:p.Pro313Arg, XP_006723470.1:p.Pro369Leu, XP_006723470.1:p.Pro369Arg, NP_001128628.1:p.Pro303Leu, NP_001128628.1:p.Pro303Arg, XP_011525659.1:p.Pro350Leu, XP_011525659.1:p.Pro350Arg, NP_001128627.2:p.Pro358Leu, NP_001128627.2:p.Pro358Arg, XP_005259346.2:p.Pro341Leu, XP_005259346.2:p.Pro341Arg, XP_006723472.1:p.Pro213Leu, XP_006723472.1:p.Pro213Arg, NP_001276907.2:p.Pro368Leu, NP_001276907.2:p.Pro368Arg, XP_024307499.1:p.Pro357Leu, XP_024307499.1:p.Pro357Arg, XP_011525658.2:p.Pro351Leu, XP_011525658.2:p.Pro351Arg, XP_006723473.1:p.Pro213Leu, XP_006723473.1:p.Pro213Arg, NP_001350508.1:p.Pro359Leu, NP_001350508.1:p.Pro359Arg, XP_047295446.1:p.Pro366Leu, XP_047295446.1:p.Pro366Arg, XP_047295448.1:p.Pro352Leu, XP_047295448.1:p.Pro352Arg, XP_047295447.1:p.Pro356Leu, XP_047295447.1:p.Pro356Arg, XP_047295449.1:p.Pro342Leu, XP_047295449.1:p.Pro342Arg

                                      19.

                                      rs1446655648 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        19:38213754 (GRCh38)
                                        19:38704394 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:38213753:G:A
                                        Gene:
                                        DPF1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000019.10:g.38213754G>A, NC_000019.9:g.38704394G>A, XM_005259292.6:c.847C>T, XM_005259292.5:c.847C>T, XM_005259292.4:c.847C>T, XM_005259292.3:c.847C>T, XM_005259292.2:c.847C>T, XM_005259292.1:c.847C>T, XM_006723408.4:c.898C>T, XM_006723408.3:c.898C>T, XM_006723408.2:c.898C>T, XM_006723408.1:c.898C>T, NM_004647.4:c.769C>T, NM_004647.3:c.850C>T, NM_004647.2:c.850C>T, XM_011527358.3:c.736C>T, XM_011527358.2:c.736C>T, XM_011527358.1:c.736C>T, XM_006723407.3:c.904C>T, XM_006723407.2:c.904C>T, XM_006723407.1:c.904C>T, NM_001135156.3:c.736C>T, NM_001135156.2:c.736C>T, NM_001135156.1:c.736C>T, XM_011527357.3:c.847C>T, XM_011527357.2:c.847C>T, XM_011527357.1:c.847C>T, NM_001135155.3:c.901C>T, NM_001135155.2:c.982C>T, NM_001135155.1:c.982C>T, XM_005259289.3:c.850C>T, XM_005259289.2:c.931C>T, XM_005259289.1:c.931C>T, XM_006723409.3:c.436C>T, XM_006723409.2:c.436C>T, XM_006723409.1:c.436C>T, NM_001289978.2:c.901C>T, NM_001289978.1:c.982C>T, XM_024451731.2:c.898C>T, XM_024451731.1:c.898C>T, XM_011527356.2:c.850C>T, XM_011527356.1:c.931C>T, XM_006723410.2:c.436C>T, XM_006723410.1:c.436C>T, NM_001363579.1:c.904C>T, XM_047439490.1:c.895C>T, XM_047439492.1:c.853C>T, XM_047439491.1:c.895C>T, XM_047439493.1:c.853C>T, XP_005259349.1:p.His283Tyr, XP_006723471.1:p.His300Tyr, NP_004638.3:p.His257Tyr, XP_011525660.1:p.His246Tyr, XP_006723470.1:p.His302Tyr, NP_001128628.1:p.His246Tyr, XP_011525659.1:p.His283Tyr, NP_001128627.2:p.His301Tyr, XP_005259346.2:p.His284Tyr, XP_006723472.1:p.His146Tyr, NP_001276907.2:p.His301Tyr, XP_024307499.1:p.His300Tyr, XP_011525658.2:p.His284Tyr, XP_006723473.1:p.His146Tyr, NP_001350508.1:p.His302Tyr, XP_047295446.1:p.His299Tyr, XP_047295448.1:p.His285Tyr, XP_047295447.1:p.His299Tyr, XP_047295449.1:p.His285Tyr

                                        20.

                                        rs1438700317 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          19:38222397 (GRCh38)
                                          19:38713037 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:38222396:G:C
                                          Gene:
                                          DPF1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0./0 (ALFA)
                                          C=0.000014/2 (GnomAD)
                                          C=0.000019/5 (TOPMED)
                                          HGVS:
                                          NC_000019.10:g.38222397G>C, NC_000019.9:g.38713037G>C, XM_005259292.6:c.261C>G, XM_005259292.5:c.261C>G, XM_005259292.4:c.261C>G, XM_005259292.3:c.261C>G, XM_005259292.2:c.261C>G, XM_005259292.1:c.261C>G, XM_006723408.4:c.261C>G, XM_006723408.3:c.261C>G, XM_006723408.2:c.261C>G, XM_006723408.1:c.261C>G, NM_004647.4:c.258C>G, NM_004647.3:c.339C>G, NM_004647.2:c.339C>G, XM_011527358.3:c.93C>G, XM_011527358.2:c.93C>G, XM_011527358.1:c.93C>G, XM_006723407.3:c.261C>G, XM_006723407.2:c.261C>G, XM_006723407.1:c.261C>G, NM_001135156.3:c.93C>G, NM_001135156.2:c.93C>G, NM_001135156.1:c.93C>G, XM_011527357.3:c.261C>G, XM_011527357.2:c.261C>G, XM_011527357.1:c.261C>G, NM_001135155.3:c.258C>G, NM_001135155.2:c.339C>G, NM_001135155.1:c.339C>G, XM_005259289.3:c.258C>G, XM_005259289.2:c.339C>G, XM_005259289.1:c.339C>G, NM_001289978.2:c.258C>G, NM_001289978.1:c.339C>G, XM_024451731.2:c.261C>G, XM_024451731.1:c.261C>G, XM_011527356.2:c.258C>G, XM_011527356.1:c.339C>G, NM_001363579.1:c.261C>G, XM_047439490.1:c.258C>G, XM_047439492.1:c.261C>G, XM_047439491.1:c.258C>G, XM_047439493.1:c.261C>G, XM_047439494.1:c.261C>G, XP_005259349.1:p.Ile87Met, XP_006723471.1:p.Ile87Met, NP_004638.3:p.Ile86Met, XP_011525660.1:p.Ile31Met, XP_006723470.1:p.Ile87Met, NP_001128628.1:p.Ile31Met, XP_011525659.1:p.Ile87Met, NP_001128627.2:p.Ile86Met, XP_005259346.2:p.Ile86Met, NP_001276907.2:p.Ile86Met, XP_024307499.1:p.Ile87Met, XP_011525658.2:p.Ile86Met, NP_001350508.1:p.Ile87Met, XP_047295446.1:p.Ile86Met, XP_047295448.1:p.Ile87Met, XP_047295447.1:p.Ile86Met, XP_047295449.1:p.Ile87Met, XP_047295450.1:p.Ile87Met

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