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Items: 1 to 20 of 335

1.

rs1490143105 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    17:75892286 (GRCh38)
    17:73888367 (GRCh37)
    Canonical SPDI:
    NC_000017.11:75892285:T:C
    Gene:
    TRIM65 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000012/3 (GnomAD_exomes)
    HGVS:
    NC_000017.11:g.75892286T>C, NC_000017.10:g.73888367T>C, XM_006721760.4:c.764A>G, XM_006721760.3:c.764A>G, XM_006721760.2:c.764A>G, XM_006721760.1:c.764A>G, NM_173547.4:c.725A>G, NM_173547.3:c.725A>G, XM_006721761.4:c.764A>G, XM_006721761.3:c.764A>G, XM_006721761.2:c.764A>G, XM_006721761.1:c.764A>G, XM_011524503.3:c.764A>G, XM_011524503.2:c.764A>G, XM_011524503.1:c.764A>G, XM_011524499.3:c.764A>G, XM_011524499.2:c.764A>G, XM_011524499.1:c.764A>G, XM_011524501.3:c.764A>G, XM_011524501.2:c.764A>G, XM_011524501.1:c.764A>G, XR_934419.3:n.778A>G, XR_934419.2:n.835A>G, XR_934419.1:n.824A>G, XM_011524500.3:c.764A>G, XM_011524500.2:c.764A>G, XM_011524500.1:c.764A>G, XM_011524502.3:c.764A>G, XM_011524502.2:c.764A>G, XM_011524502.1:c.764A>G, NM_001256124.2:c.725A>G, NM_001256124.1:c.725A>G, XM_017024344.2:c.725A>G, XM_017024344.1:c.725A>G, XM_047435580.1:c.764A>G, XM_047435581.1:c.725A>G, XM_047435583.1:c.725A>G, XM_047435584.1:c.725A>G, XM_047435585.1:c.725A>G, XP_006721823.1:p.Asp255Gly, NP_775818.2:p.Asp242Gly, XP_006721824.1:p.Asp255Gly, XP_011522805.1:p.Asp255Gly, XP_011522801.1:p.Asp255Gly, XP_011522803.1:p.Asp255Gly, XP_011522802.1:p.Asp255Gly, XP_011522804.1:p.Asp255Gly, NP_001243053.1:p.Asp242Gly, XP_016879833.1:p.Asp242Gly, XP_047291536.1:p.Asp255Gly, XP_047291537.1:p.Asp242Gly, XP_047291539.1:p.Asp242Gly, XP_047291540.1:p.Asp242Gly, XP_047291541.1:p.Asp242Gly
    2.

    rs1489884593 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      17:75892481 (GRCh38)
      17:73888562 (GRCh37)
      Canonical SPDI:
      NC_000017.11:75892480:G:A
      Gene:
      TRIM65 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0./0 (KOREAN)
      HGVS:
      NC_000017.11:g.75892481G>A, NC_000017.10:g.73888562G>A, XM_006721760.4:c.569C>T, XM_006721760.3:c.569C>T, XM_006721760.2:c.569C>T, XM_006721760.1:c.569C>T, NM_173547.4:c.530C>T, NM_173547.3:c.530C>T, XM_006721761.4:c.569C>T, XM_006721761.3:c.569C>T, XM_006721761.2:c.569C>T, XM_006721761.1:c.569C>T, XM_011524503.3:c.569C>T, XM_011524503.2:c.569C>T, XM_011524503.1:c.569C>T, XM_011524499.3:c.569C>T, XM_011524499.2:c.569C>T, XM_011524499.1:c.569C>T, XM_011524501.3:c.569C>T, XM_011524501.2:c.569C>T, XM_011524501.1:c.569C>T, XR_934419.3:n.583C>T, XR_934419.2:n.640C>T, XR_934419.1:n.629C>T, XM_011524500.3:c.569C>T, XM_011524500.2:c.569C>T, XM_011524500.1:c.569C>T, XM_011524502.3:c.569C>T, XM_011524502.2:c.569C>T, XM_011524502.1:c.569C>T, NM_001256124.2:c.530C>T, NM_001256124.1:c.530C>T, XM_017024344.2:c.530C>T, XM_017024344.1:c.530C>T, XM_047435580.1:c.569C>T, XM_047435581.1:c.530C>T, XM_047435583.1:c.530C>T, XM_047435584.1:c.530C>T, XM_047435585.1:c.530C>T, XP_006721823.1:p.Ala190Val, NP_775818.2:p.Ala177Val, XP_006721824.1:p.Ala190Val, XP_011522805.1:p.Ala190Val, XP_011522801.1:p.Ala190Val, XP_011522803.1:p.Ala190Val, XP_011522802.1:p.Ala190Val, XP_011522804.1:p.Ala190Val, NP_001243053.1:p.Ala177Val, XP_016879833.1:p.Ala177Val, XP_047291536.1:p.Ala190Val, XP_047291537.1:p.Ala177Val, XP_047291539.1:p.Ala177Val, XP_047291540.1:p.Ala177Val, XP_047291541.1:p.Ala177Val
      3.

      rs1488860498 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,T [Show Flanks]
        Chromosome:
        17:75892538 (GRCh38)
        17:73888619 (GRCh37)
        Canonical SPDI:
        NC_000017.11:75892537:C:A,NC_000017.11:75892537:C:T
        Gene:
        TRIM65 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        A=0.000035/1 (TOMMO)
        HGVS:
        NC_000017.11:g.75892538C>A, NC_000017.11:g.75892538C>T, NC_000017.10:g.73888619C>A, NC_000017.10:g.73888619C>T, XM_006721760.4:c.512G>T, XM_006721760.4:c.512G>A, XM_006721760.3:c.512G>T, XM_006721760.3:c.512G>A, XM_006721760.2:c.512G>T, XM_006721760.2:c.512G>A, XM_006721760.1:c.512G>T, XM_006721760.1:c.512G>A, XM_006721761.4:c.512G>T, XM_006721761.4:c.512G>A, XM_006721761.3:c.512G>T, XM_006721761.3:c.512G>A, XM_006721761.2:c.512G>T, XM_006721761.2:c.512G>A, XM_006721761.1:c.512G>T, XM_006721761.1:c.512G>A, XM_011524503.3:c.512G>T, XM_011524503.3:c.512G>A, XM_011524503.2:c.512G>T, XM_011524503.2:c.512G>A, XM_011524503.1:c.512G>T, XM_011524503.1:c.512G>A, XM_011524499.3:c.512G>T, XM_011524499.3:c.512G>A, XM_011524499.2:c.512G>T, XM_011524499.2:c.512G>A, XM_011524499.1:c.512G>T, XM_011524499.1:c.512G>A, XM_011524501.3:c.512G>T, XM_011524501.3:c.512G>A, XM_011524501.2:c.512G>T, XM_011524501.2:c.512G>A, XM_011524501.1:c.512G>T, XM_011524501.1:c.512G>A, XR_934419.3:n.526G>T, XR_934419.3:n.526G>A, XR_934419.2:n.583G>T, XR_934419.2:n.583G>A, XR_934419.1:n.572G>T, XR_934419.1:n.572G>A, XM_011524500.3:c.512G>T, XM_011524500.3:c.512G>A, XM_011524500.2:c.512G>T, XM_011524500.2:c.512G>A, XM_011524500.1:c.512G>T, XM_011524500.1:c.512G>A, XM_011524502.3:c.512G>T, XM_011524502.3:c.512G>A, XM_011524502.2:c.512G>T, XM_011524502.2:c.512G>A, XM_011524502.1:c.512G>T, XM_011524502.1:c.512G>A, XM_047435580.1:c.512G>T, XM_047435580.1:c.512G>A, XP_006721823.1:p.Gly171Val, XP_006721823.1:p.Gly171Asp, XP_006721824.1:p.Gly171Val, XP_006721824.1:p.Gly171Asp, XP_011522805.1:p.Gly171Val, XP_011522805.1:p.Gly171Asp, XP_011522801.1:p.Gly171Val, XP_011522801.1:p.Gly171Asp, XP_011522803.1:p.Gly171Val, XP_011522803.1:p.Gly171Asp, XP_011522802.1:p.Gly171Val, XP_011522802.1:p.Gly171Asp, XP_011522804.1:p.Gly171Val, XP_011522804.1:p.Gly171Asp, XP_047291536.1:p.Gly171Val, XP_047291536.1:p.Gly171Asp
        4.

        rs1488850129 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          17:75896637 (GRCh38)
          17:73892718 (GRCh37)
          Canonical SPDI:
          NC_000017.11:75896636:G:A
          Gene:
          TRIM65 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,missense_variant
          HGVS:
          NC_000017.11:g.75896637G>A, NC_000017.10:g.73892718G>A, XM_006721760.4:c.301C>T, XM_006721760.3:c.301C>T, XM_006721760.2:c.301C>T, XM_006721760.1:c.301C>T, NM_173547.4:c.301C>T, NM_173547.3:c.301C>T, XM_006721761.4:c.301C>T, XM_006721761.3:c.301C>T, XM_006721761.2:c.301C>T, XM_006721761.1:c.301C>T, XM_011524503.3:c.301C>T, XM_011524503.2:c.301C>T, XM_011524503.1:c.301C>T, XM_011524499.3:c.301C>T, XM_011524499.2:c.301C>T, XM_011524499.1:c.301C>T, XM_011524501.3:c.301C>T, XM_011524501.2:c.301C>T, XM_011524501.1:c.301C>T, XR_934419.3:n.315C>T, XR_934419.2:n.372C>T, XR_934419.1:n.361C>T, XM_011524500.3:c.301C>T, XM_011524500.2:c.301C>T, XM_011524500.1:c.301C>T, XM_011524502.3:c.301C>T, XM_011524502.2:c.301C>T, XM_011524502.1:c.301C>T, NM_001256124.2:c.301C>T, NM_001256124.1:c.301C>T, XM_017024344.2:c.301C>T, XM_017024344.1:c.301C>T, XM_047435580.1:c.301C>T, XM_047435581.1:c.301C>T, XM_047435583.1:c.301C>T, XM_047435584.1:c.301C>T, XM_047435585.1:c.301C>T, XP_006721823.1:p.Pro101Ser, NP_775818.2:p.Pro101Ser, XP_006721824.1:p.Pro101Ser, XP_011522805.1:p.Pro101Ser, XP_011522801.1:p.Pro101Ser, XP_011522803.1:p.Pro101Ser, XP_011522802.1:p.Pro101Ser, XP_011522804.1:p.Pro101Ser, NP_001243053.1:p.Pro101Ser, XP_016879833.1:p.Pro101Ser, XP_047291536.1:p.Pro101Ser, XP_047291537.1:p.Pro101Ser, XP_047291539.1:p.Pro101Ser, XP_047291540.1:p.Pro101Ser, XP_047291541.1:p.Pro101Ser
          5.

          rs1484305856 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            17:75896790 (GRCh38)
            17:73892871 (GRCh37)
            Canonical SPDI:
            NC_000017.11:75896789:A:C
            Gene:
            TRIM65 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa
            MAF:
            C=0./0 (ALFA)
            HGVS:
            NC_000017.11:g.75896790A>C, NC_000017.10:g.73892871A>C, XM_006721760.4:c.148T>G, XM_006721760.3:c.148T>G, XM_006721760.2:c.148T>G, XM_006721760.1:c.148T>G, NM_173547.4:c.148T>G, NM_173547.3:c.148T>G, XM_006721761.4:c.148T>G, XM_006721761.3:c.148T>G, XM_006721761.2:c.148T>G, XM_006721761.1:c.148T>G, XM_011524503.3:c.148T>G, XM_011524503.2:c.148T>G, XM_011524503.1:c.148T>G, XM_011524499.3:c.148T>G, XM_011524499.2:c.148T>G, XM_011524499.1:c.148T>G, XM_011524501.3:c.148T>G, XM_011524501.2:c.148T>G, XM_011524501.1:c.148T>G, XR_934419.3:n.162T>G, XR_934419.2:n.219T>G, XR_934419.1:n.208T>G, XM_011524500.3:c.148T>G, XM_011524500.2:c.148T>G, XM_011524500.1:c.148T>G, XM_011524502.3:c.148T>G, XM_011524502.2:c.148T>G, XM_011524502.1:c.148T>G, NM_001256124.2:c.148T>G, NM_001256124.1:c.148T>G, XM_017024344.2:c.148T>G, XM_017024344.1:c.148T>G, XM_047435580.1:c.148T>G, XM_047435581.1:c.148T>G, XM_047435583.1:c.148T>G, XM_047435584.1:c.148T>G, XM_047435585.1:c.148T>G, XP_006721823.1:p.Cys50Gly, NP_775818.2:p.Cys50Gly, XP_006721824.1:p.Cys50Gly, XP_011522805.1:p.Cys50Gly, XP_011522801.1:p.Cys50Gly, XP_011522803.1:p.Cys50Gly, XP_011522802.1:p.Cys50Gly, XP_011522804.1:p.Cys50Gly, NP_001243053.1:p.Cys50Gly, XP_016879833.1:p.Cys50Gly, XP_047291536.1:p.Cys50Gly, XP_047291537.1:p.Cys50Gly, XP_047291539.1:p.Cys50Gly, XP_047291540.1:p.Cys50Gly, XP_047291541.1:p.Cys50Gly
            7.

            rs1476966961 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C,T [Show Flanks]
              Chromosome:
              17:75896921 (GRCh38)
              17:73893002 (GRCh37)
              Canonical SPDI:
              NC_000017.11:75896920:A:C,NC_000017.11:75896920:A:T
              Gene:
              TRIM65 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000019/5 (TOPMED)
              HGVS:
              NC_000017.11:g.75896921A>C, NC_000017.11:g.75896921A>T, NC_000017.10:g.73893002A>C, NC_000017.10:g.73893002A>T, XM_006721760.4:c.17T>G, XM_006721760.4:c.17T>A, XM_006721760.3:c.17T>G, XM_006721760.3:c.17T>A, XM_006721760.2:c.17T>G, XM_006721760.2:c.17T>A, XM_006721760.1:c.17T>G, XM_006721760.1:c.17T>A, NM_173547.4:c.17T>G, NM_173547.4:c.17T>A, NM_173547.3:c.17T>G, NM_173547.3:c.17T>A, XM_006721761.4:c.17T>G, XM_006721761.4:c.17T>A, XM_006721761.3:c.17T>G, XM_006721761.3:c.17T>A, XM_006721761.2:c.17T>G, XM_006721761.2:c.17T>A, XM_006721761.1:c.17T>G, XM_006721761.1:c.17T>A, XM_011524503.3:c.17T>G, XM_011524503.3:c.17T>A, XM_011524503.2:c.17T>G, XM_011524503.2:c.17T>A, XM_011524503.1:c.17T>G, XM_011524503.1:c.17T>A, XM_011524499.3:c.17T>G, XM_011524499.3:c.17T>A, XM_011524499.2:c.17T>G, XM_011524499.2:c.17T>A, XM_011524499.1:c.17T>G, XM_011524499.1:c.17T>A, XM_011524501.3:c.17T>G, XM_011524501.3:c.17T>A, XM_011524501.2:c.17T>G, XM_011524501.2:c.17T>A, XM_011524501.1:c.17T>G, XM_011524501.1:c.17T>A, XR_934419.3:n.31T>G, XR_934419.3:n.31T>A, XR_934419.2:n.88T>G, XR_934419.2:n.88T>A, XR_934419.1:n.77T>G, XR_934419.1:n.77T>A, XM_011524500.3:c.17T>G, XM_011524500.3:c.17T>A, XM_011524500.2:c.17T>G, XM_011524500.2:c.17T>A, XM_011524500.1:c.17T>G, XM_011524500.1:c.17T>A, XM_011524502.3:c.17T>G, XM_011524502.3:c.17T>A, XM_011524502.2:c.17T>G, XM_011524502.2:c.17T>A, XM_011524502.1:c.17T>G, XM_011524502.1:c.17T>A, NM_001256124.2:c.17T>G, NM_001256124.2:c.17T>A, NM_001256124.1:c.17T>G, NM_001256124.1:c.17T>A, XM_017024344.2:c.17T>G, XM_017024344.2:c.17T>A, XM_017024344.1:c.17T>G, XM_017024344.1:c.17T>A, XM_047435580.1:c.17T>G, XM_047435580.1:c.17T>A, XM_047435581.1:c.17T>G, XM_047435581.1:c.17T>A, XM_047435583.1:c.17T>G, XM_047435583.1:c.17T>A, XM_047435584.1:c.17T>G, XM_047435584.1:c.17T>A, XM_047435585.1:c.17T>G, XM_047435585.1:c.17T>A, XP_006721823.1:p.Leu6Arg, XP_006721823.1:p.Leu6Gln, NP_775818.2:p.Leu6Arg, NP_775818.2:p.Leu6Gln, XP_006721824.1:p.Leu6Arg, XP_006721824.1:p.Leu6Gln, XP_011522805.1:p.Leu6Arg, XP_011522805.1:p.Leu6Gln, XP_011522801.1:p.Leu6Arg, XP_011522801.1:p.Leu6Gln, XP_011522803.1:p.Leu6Arg, XP_011522803.1:p.Leu6Gln, XP_011522802.1:p.Leu6Arg, XP_011522802.1:p.Leu6Gln, XP_011522804.1:p.Leu6Arg, XP_011522804.1:p.Leu6Gln, NP_001243053.1:p.Leu6Arg, NP_001243053.1:p.Leu6Gln, XP_016879833.1:p.Leu6Arg, XP_016879833.1:p.Leu6Gln, XP_047291536.1:p.Leu6Arg, XP_047291536.1:p.Leu6Gln, XP_047291537.1:p.Leu6Arg, XP_047291537.1:p.Leu6Gln, XP_047291539.1:p.Leu6Arg, XP_047291539.1:p.Leu6Gln, XP_047291540.1:p.Leu6Arg, XP_047291540.1:p.Leu6Gln, XP_047291541.1:p.Leu6Arg, XP_047291541.1:p.Leu6Gln
              8.

              rs1475338205 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                17:75892428 (GRCh38)
                17:73888509 (GRCh37)
                Canonical SPDI:
                NC_000017.11:75892427:G:C
                Gene:
                TRIM65 (Varview)
                Functional Consequence:
                non_coding_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_000017.11:g.75892428G>C, NC_000017.10:g.73888509G>C, XM_006721760.4:c.622C>G, XM_006721760.3:c.622C>G, XM_006721760.2:c.622C>G, XM_006721760.1:c.622C>G, NM_173547.4:c.583C>G, NM_173547.3:c.583C>G, XM_006721761.4:c.622C>G, XM_006721761.3:c.622C>G, XM_006721761.2:c.622C>G, XM_006721761.1:c.622C>G, XM_011524503.3:c.622C>G, XM_011524503.2:c.622C>G, XM_011524503.1:c.622C>G, XM_011524499.3:c.622C>G, XM_011524499.2:c.622C>G, XM_011524499.1:c.622C>G, XM_011524501.3:c.622C>G, XM_011524501.2:c.622C>G, XM_011524501.1:c.622C>G, XR_934419.3:n.636C>G, XR_934419.2:n.693C>G, XR_934419.1:n.682C>G, XM_011524500.3:c.622C>G, XM_011524500.2:c.622C>G, XM_011524500.1:c.622C>G, XM_011524502.3:c.622C>G, XM_011524502.2:c.622C>G, XM_011524502.1:c.622C>G, NM_001256124.2:c.583C>G, NM_001256124.1:c.583C>G, XM_017024344.2:c.583C>G, XM_017024344.1:c.583C>G, XM_047435580.1:c.622C>G, XM_047435581.1:c.583C>G, XM_047435583.1:c.583C>G, XM_047435584.1:c.583C>G, XM_047435585.1:c.583C>G, XP_006721823.1:p.His208Asp, NP_775818.2:p.His195Asp, XP_006721824.1:p.His208Asp, XP_011522805.1:p.His208Asp, XP_011522801.1:p.His208Asp, XP_011522803.1:p.His208Asp, XP_011522802.1:p.His208Asp, XP_011522804.1:p.His208Asp, NP_001243053.1:p.His195Asp, XP_016879833.1:p.His195Asp, XP_047291536.1:p.His208Asp, XP_047291537.1:p.His195Asp, XP_047291539.1:p.His195Asp, XP_047291540.1:p.His195Asp, XP_047291541.1:p.His195Asp
                10.

                rs1467114143 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  17:75896796 (GRCh38)
                  17:73892877 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:75896795:G:C
                  Gene:
                  TRIM65 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,missense_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000017.11:g.75896796G>C, NC_000017.10:g.73892877G>C, XM_006721760.4:c.142C>G, XM_006721760.3:c.142C>G, XM_006721760.2:c.142C>G, XM_006721760.1:c.142C>G, NM_173547.4:c.142C>G, NM_173547.3:c.142C>G, XM_006721761.4:c.142C>G, XM_006721761.3:c.142C>G, XM_006721761.2:c.142C>G, XM_006721761.1:c.142C>G, XM_011524503.3:c.142C>G, XM_011524503.2:c.142C>G, XM_011524503.1:c.142C>G, XM_011524499.3:c.142C>G, XM_011524499.2:c.142C>G, XM_011524499.1:c.142C>G, XM_011524501.3:c.142C>G, XM_011524501.2:c.142C>G, XM_011524501.1:c.142C>G, XR_934419.3:n.156C>G, XR_934419.2:n.213C>G, XR_934419.1:n.202C>G, XM_011524500.3:c.142C>G, XM_011524500.2:c.142C>G, XM_011524500.1:c.142C>G, XM_011524502.3:c.142C>G, XM_011524502.2:c.142C>G, XM_011524502.1:c.142C>G, NM_001256124.2:c.142C>G, NM_001256124.1:c.142C>G, XM_017024344.2:c.142C>G, XM_017024344.1:c.142C>G, XM_047435580.1:c.142C>G, XM_047435581.1:c.142C>G, XM_047435583.1:c.142C>G, XM_047435584.1:c.142C>G, XM_047435585.1:c.142C>G, XP_006721823.1:p.Pro48Ala, NP_775818.2:p.Pro48Ala, XP_006721824.1:p.Pro48Ala, XP_011522805.1:p.Pro48Ala, XP_011522801.1:p.Pro48Ala, XP_011522803.1:p.Pro48Ala, XP_011522802.1:p.Pro48Ala, XP_011522804.1:p.Pro48Ala, NP_001243053.1:p.Pro48Ala, XP_016879833.1:p.Pro48Ala, XP_047291536.1:p.Pro48Ala, XP_047291537.1:p.Pro48Ala, XP_047291539.1:p.Pro48Ala, XP_047291540.1:p.Pro48Ala, XP_047291541.1:p.Pro48Ala
                  11.

                  rs1461673720 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    17:75896787 (GRCh38)
                    17:73892868 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:75896786:G:A
                    Gene:
                    TRIM65 (Varview)
                    Functional Consequence:
                    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_000017.11:g.75896787G>A, NC_000017.10:g.73892868G>A, XM_006721760.4:c.151C>T, XM_006721760.3:c.151C>T, XM_006721760.2:c.151C>T, XM_006721760.1:c.151C>T, NM_173547.4:c.151C>T, NM_173547.3:c.151C>T, XM_006721761.4:c.151C>T, XM_006721761.3:c.151C>T, XM_006721761.2:c.151C>T, XM_006721761.1:c.151C>T, XM_011524503.3:c.151C>T, XM_011524503.2:c.151C>T, XM_011524503.1:c.151C>T, XM_011524499.3:c.151C>T, XM_011524499.2:c.151C>T, XM_011524499.1:c.151C>T, XM_011524501.3:c.151C>T, XM_011524501.2:c.151C>T, XM_011524501.1:c.151C>T, XR_934419.3:n.165C>T, XR_934419.2:n.222C>T, XR_934419.1:n.211C>T, XM_011524500.3:c.151C>T, XM_011524500.2:c.151C>T, XM_011524500.1:c.151C>T, XM_011524502.3:c.151C>T, XM_011524502.2:c.151C>T, XM_011524502.1:c.151C>T, NM_001256124.2:c.151C>T, NM_001256124.1:c.151C>T, XM_017024344.2:c.151C>T, XM_017024344.1:c.151C>T, XM_047435580.1:c.151C>T, XM_047435581.1:c.151C>T, XM_047435583.1:c.151C>T, XM_047435584.1:c.151C>T, XM_047435585.1:c.151C>T, XP_006721823.1:p.Arg51Trp, NP_775818.2:p.Arg51Trp, XP_006721824.1:p.Arg51Trp, XP_011522805.1:p.Arg51Trp, XP_011522801.1:p.Arg51Trp, XP_011522803.1:p.Arg51Trp, XP_011522802.1:p.Arg51Trp, XP_011522804.1:p.Arg51Trp, NP_001243053.1:p.Arg51Trp, XP_016879833.1:p.Arg51Trp, XP_047291536.1:p.Arg51Trp, XP_047291537.1:p.Arg51Trp, XP_047291539.1:p.Arg51Trp, XP_047291540.1:p.Arg51Trp, XP_047291541.1:p.Arg51Trp
                    13.

                    rs1459466393 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,T [Show Flanks]
                      Chromosome:
                      17:75896754 (GRCh38)
                      17:73892835 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:75896753:G:A,NC_000017.11:75896753:G:T
                      Gene:
                      TRIM65 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0.000071/1 (ALFA)
                      T=0.000008/2 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000017.11:g.75896754G>A, NC_000017.11:g.75896754G>T, NC_000017.10:g.73892835G>A, NC_000017.10:g.73892835G>T, XM_006721760.4:c.184C>T, XM_006721760.4:c.184C>A, XM_006721760.3:c.184C>T, XM_006721760.3:c.184C>A, XM_006721760.2:c.184C>T, XM_006721760.2:c.184C>A, XM_006721760.1:c.184C>T, XM_006721760.1:c.184C>A, NM_173547.4:c.184C>T, NM_173547.4:c.184C>A, NM_173547.3:c.184C>T, NM_173547.3:c.184C>A, XM_006721761.4:c.184C>T, XM_006721761.4:c.184C>A, XM_006721761.3:c.184C>T, XM_006721761.3:c.184C>A, XM_006721761.2:c.184C>T, XM_006721761.2:c.184C>A, XM_006721761.1:c.184C>T, XM_006721761.1:c.184C>A, XM_011524503.3:c.184C>T, XM_011524503.3:c.184C>A, XM_011524503.2:c.184C>T, XM_011524503.2:c.184C>A, XM_011524503.1:c.184C>T, XM_011524503.1:c.184C>A, XM_011524499.3:c.184C>T, XM_011524499.3:c.184C>A, XM_011524499.2:c.184C>T, XM_011524499.2:c.184C>A, XM_011524499.1:c.184C>T, XM_011524499.1:c.184C>A, XM_011524501.3:c.184C>T, XM_011524501.3:c.184C>A, XM_011524501.2:c.184C>T, XM_011524501.2:c.184C>A, XM_011524501.1:c.184C>T, XM_011524501.1:c.184C>A, XR_934419.3:n.198C>T, XR_934419.3:n.198C>A, XR_934419.2:n.255C>T, XR_934419.2:n.255C>A, XR_934419.1:n.244C>T, XR_934419.1:n.244C>A, XM_011524500.3:c.184C>T, XM_011524500.3:c.184C>A, XM_011524500.2:c.184C>T, XM_011524500.2:c.184C>A, XM_011524500.1:c.184C>T, XM_011524500.1:c.184C>A, XM_011524502.3:c.184C>T, XM_011524502.3:c.184C>A, XM_011524502.2:c.184C>T, XM_011524502.2:c.184C>A, XM_011524502.1:c.184C>T, XM_011524502.1:c.184C>A, NM_001256124.2:c.184C>T, NM_001256124.2:c.184C>A, NM_001256124.1:c.184C>T, NM_001256124.1:c.184C>A, XM_017024344.2:c.184C>T, XM_017024344.2:c.184C>A, XM_017024344.1:c.184C>T, XM_017024344.1:c.184C>A, XM_047435580.1:c.184C>T, XM_047435580.1:c.184C>A, XM_047435581.1:c.184C>T, XM_047435581.1:c.184C>A, XM_047435583.1:c.184C>T, XM_047435583.1:c.184C>A, XM_047435584.1:c.184C>T, XM_047435584.1:c.184C>A, XM_047435585.1:c.184C>T, XM_047435585.1:c.184C>A, XP_006721823.1:p.Arg62Cys, XP_006721823.1:p.Arg62Ser, NP_775818.2:p.Arg62Cys, NP_775818.2:p.Arg62Ser, XP_006721824.1:p.Arg62Cys, XP_006721824.1:p.Arg62Ser, XP_011522805.1:p.Arg62Cys, XP_011522805.1:p.Arg62Ser, XP_011522801.1:p.Arg62Cys, XP_011522801.1:p.Arg62Ser, XP_011522803.1:p.Arg62Cys, XP_011522803.1:p.Arg62Ser, XP_011522802.1:p.Arg62Cys, XP_011522802.1:p.Arg62Ser, XP_011522804.1:p.Arg62Cys, XP_011522804.1:p.Arg62Ser, NP_001243053.1:p.Arg62Cys, NP_001243053.1:p.Arg62Ser, XP_016879833.1:p.Arg62Cys, XP_016879833.1:p.Arg62Ser, XP_047291536.1:p.Arg62Cys, XP_047291536.1:p.Arg62Ser, XP_047291537.1:p.Arg62Cys, XP_047291537.1:p.Arg62Ser, XP_047291539.1:p.Arg62Cys, XP_047291539.1:p.Arg62Ser, XP_047291540.1:p.Arg62Cys, XP_047291540.1:p.Arg62Ser, XP_047291541.1:p.Arg62Cys, XP_047291541.1:p.Arg62Ser
                      15.

                      rs1456381234 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        17:75896778 (GRCh38)
                        17:73892859 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:75896777:A:G
                        Gene:
                        TRIM65 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000017.11:g.75896778A>G, NC_000017.10:g.73892859A>G, XM_006721760.4:c.160T>C, XM_006721760.3:c.160T>C, XM_006721760.2:c.160T>C, XM_006721760.1:c.160T>C, NM_173547.4:c.160T>C, NM_173547.3:c.160T>C, XM_006721761.4:c.160T>C, XM_006721761.3:c.160T>C, XM_006721761.2:c.160T>C, XM_006721761.1:c.160T>C, XM_011524503.3:c.160T>C, XM_011524503.2:c.160T>C, XM_011524503.1:c.160T>C, XM_011524499.3:c.160T>C, XM_011524499.2:c.160T>C, XM_011524499.1:c.160T>C, XM_011524501.3:c.160T>C, XM_011524501.2:c.160T>C, XM_011524501.1:c.160T>C, XR_934419.3:n.174T>C, XR_934419.2:n.231T>C, XR_934419.1:n.220T>C, XM_011524500.3:c.160T>C, XM_011524500.2:c.160T>C, XM_011524500.1:c.160T>C, XM_011524502.3:c.160T>C, XM_011524502.2:c.160T>C, XM_011524502.1:c.160T>C, NM_001256124.2:c.160T>C, NM_001256124.1:c.160T>C, XM_017024344.2:c.160T>C, XM_017024344.1:c.160T>C, XM_047435580.1:c.160T>C, XM_047435581.1:c.160T>C, XM_047435583.1:c.160T>C, XM_047435584.1:c.160T>C, XM_047435585.1:c.160T>C, XP_006721823.1:p.Phe54Leu, NP_775818.2:p.Phe54Leu, XP_006721824.1:p.Phe54Leu, XP_011522805.1:p.Phe54Leu, XP_011522801.1:p.Phe54Leu, XP_011522803.1:p.Phe54Leu, XP_011522802.1:p.Phe54Leu, XP_011522804.1:p.Phe54Leu, NP_001243053.1:p.Phe54Leu, XP_016879833.1:p.Phe54Leu, XP_047291536.1:p.Phe54Leu, XP_047291537.1:p.Phe54Leu, XP_047291539.1:p.Phe54Leu, XP_047291540.1:p.Phe54Leu, XP_047291541.1:p.Phe54Leu
                        16.

                        rs1456257210 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          17:75896643 (GRCh38)
                          17:73892724 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:75896642:C:G,NC_000017.11:75896642:C:T
                          Gene:
                          TRIM65 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          G=0.000035/1 (TOMMO)
                          HGVS:
                          NC_000017.11:g.75896643C>G, NC_000017.11:g.75896643C>T, NC_000017.10:g.73892724C>G, NC_000017.10:g.73892724C>T, XM_006721760.4:c.295G>C, XM_006721760.4:c.295G>A, XM_006721760.3:c.295G>C, XM_006721760.3:c.295G>A, XM_006721760.2:c.295G>C, XM_006721760.2:c.295G>A, XM_006721760.1:c.295G>C, XM_006721760.1:c.295G>A, NM_173547.4:c.295G>C, NM_173547.4:c.295G>A, NM_173547.3:c.295G>C, NM_173547.3:c.295G>A, XM_006721761.4:c.295G>C, XM_006721761.4:c.295G>A, XM_006721761.3:c.295G>C, XM_006721761.3:c.295G>A, XM_006721761.2:c.295G>C, XM_006721761.2:c.295G>A, XM_006721761.1:c.295G>C, XM_006721761.1:c.295G>A, XM_011524503.3:c.295G>C, XM_011524503.3:c.295G>A, XM_011524503.2:c.295G>C, XM_011524503.2:c.295G>A, XM_011524503.1:c.295G>C, XM_011524503.1:c.295G>A, XM_011524499.3:c.295G>C, XM_011524499.3:c.295G>A, XM_011524499.2:c.295G>C, XM_011524499.2:c.295G>A, XM_011524499.1:c.295G>C, XM_011524499.1:c.295G>A, XM_011524501.3:c.295G>C, XM_011524501.3:c.295G>A, XM_011524501.2:c.295G>C, XM_011524501.2:c.295G>A, XM_011524501.1:c.295G>C, XM_011524501.1:c.295G>A, XR_934419.3:n.309G>C, XR_934419.3:n.309G>A, XR_934419.2:n.366G>C, XR_934419.2:n.366G>A, XR_934419.1:n.355G>C, XR_934419.1:n.355G>A, XM_011524500.3:c.295G>C, XM_011524500.3:c.295G>A, XM_011524500.2:c.295G>C, XM_011524500.2:c.295G>A, XM_011524500.1:c.295G>C, XM_011524500.1:c.295G>A, XM_011524502.3:c.295G>C, XM_011524502.3:c.295G>A, XM_011524502.2:c.295G>C, XM_011524502.2:c.295G>A, XM_011524502.1:c.295G>C, XM_011524502.1:c.295G>A, NM_001256124.2:c.295G>C, NM_001256124.2:c.295G>A, NM_001256124.1:c.295G>C, NM_001256124.1:c.295G>A, XM_017024344.2:c.295G>C, XM_017024344.2:c.295G>A, XM_017024344.1:c.295G>C, XM_017024344.1:c.295G>A, XM_047435580.1:c.295G>C, XM_047435580.1:c.295G>A, XM_047435581.1:c.295G>C, XM_047435581.1:c.295G>A, XM_047435583.1:c.295G>C, XM_047435583.1:c.295G>A, XM_047435584.1:c.295G>C, XM_047435584.1:c.295G>A, XM_047435585.1:c.295G>C, XM_047435585.1:c.295G>A, XP_006721823.1:p.Gly99Arg, XP_006721823.1:p.Gly99Arg, NP_775818.2:p.Gly99Arg, NP_775818.2:p.Gly99Arg, XP_006721824.1:p.Gly99Arg, XP_006721824.1:p.Gly99Arg, XP_011522805.1:p.Gly99Arg, XP_011522805.1:p.Gly99Arg, XP_011522801.1:p.Gly99Arg, XP_011522801.1:p.Gly99Arg, XP_011522803.1:p.Gly99Arg, XP_011522803.1:p.Gly99Arg, XP_011522802.1:p.Gly99Arg, XP_011522802.1:p.Gly99Arg, XP_011522804.1:p.Gly99Arg, XP_011522804.1:p.Gly99Arg, NP_001243053.1:p.Gly99Arg, NP_001243053.1:p.Gly99Arg, XP_016879833.1:p.Gly99Arg, XP_016879833.1:p.Gly99Arg, XP_047291536.1:p.Gly99Arg, XP_047291536.1:p.Gly99Arg, XP_047291537.1:p.Gly99Arg, XP_047291537.1:p.Gly99Arg, XP_047291539.1:p.Gly99Arg, XP_047291539.1:p.Gly99Arg, XP_047291540.1:p.Gly99Arg, XP_047291540.1:p.Gly99Arg, XP_047291541.1:p.Gly99Arg, XP_047291541.1:p.Gly99Arg
                          18.

                          rs1452494570 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            17:75896804 (GRCh38)
                            17:73892885 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:75896803:TTT:TT
                            Gene:
                            TRIM65 (Varview)
                            Functional Consequence:
                            frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            TT=0./0 (ALFA)
                            -=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000017.11:g.75896806del, NC_000017.10:g.73892887del, XM_006721760.4:c.134del, XM_006721760.3:c.134del, XM_006721760.2:c.134del, XM_006721760.1:c.134del, NM_173547.4:c.134del, NM_173547.3:c.134del, XM_006721761.4:c.134del, XM_006721761.3:c.134del, XM_006721761.2:c.134del, XM_006721761.1:c.134del, XM_011524503.3:c.134del, XM_011524503.2:c.134del, XM_011524503.1:c.134del, XM_011524499.3:c.134del, XM_011524499.2:c.134del, XM_011524499.1:c.134del, XM_011524501.3:c.134del, XM_011524501.2:c.134del, XM_011524501.1:c.134del, XR_934419.3:n.148del, XR_934419.2:n.205del, XR_934419.1:n.194del, XM_011524500.3:c.134del, XM_011524500.2:c.134del, XM_011524500.1:c.134del, XM_011524502.3:c.134del, XM_011524502.2:c.134del, XM_011524502.1:c.134del, NM_001256124.2:c.134del, NM_001256124.1:c.134del, XM_017024344.2:c.134del, XM_017024344.1:c.134del, XM_047435580.1:c.134del, XM_047435581.1:c.134del, XM_047435583.1:c.134del, XM_047435584.1:c.134del, XM_047435585.1:c.134del, XP_006721823.1:p.Lys45fs, NP_775818.2:p.Lys45fs, XP_006721824.1:p.Lys45fs, XP_011522805.1:p.Lys45fs, XP_011522801.1:p.Lys45fs, XP_011522803.1:p.Lys45fs, XP_011522802.1:p.Lys45fs, XP_011522804.1:p.Lys45fs, NP_001243053.1:p.Lys45fs, XP_016879833.1:p.Lys45fs, XP_047291536.1:p.Lys45fs, XP_047291537.1:p.Lys45fs, XP_047291539.1:p.Lys45fs, XP_047291540.1:p.Lys45fs, XP_047291541.1:p.Lys45fs
                            19.

                            rs1450388573 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>T [Show Flanks]
                              Chromosome:
                              17:75896652 (GRCh38)
                              17:73892733 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:75896651:G:T
                              Gene:
                              TRIM65 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000017.11:g.75896652G>T, NC_000017.10:g.73892733G>T, XM_006721760.4:c.286C>A, XM_006721760.3:c.286C>A, XM_006721760.2:c.286C>A, XM_006721760.1:c.286C>A, NM_173547.4:c.286C>A, NM_173547.3:c.286C>A, XM_006721761.4:c.286C>A, XM_006721761.3:c.286C>A, XM_006721761.2:c.286C>A, XM_006721761.1:c.286C>A, XM_011524503.3:c.286C>A, XM_011524503.2:c.286C>A, XM_011524503.1:c.286C>A, XM_011524499.3:c.286C>A, XM_011524499.2:c.286C>A, XM_011524499.1:c.286C>A, XM_011524501.3:c.286C>A, XM_011524501.2:c.286C>A, XM_011524501.1:c.286C>A, XR_934419.3:n.300C>A, XR_934419.2:n.357C>A, XR_934419.1:n.346C>A, XM_011524500.3:c.286C>A, XM_011524500.2:c.286C>A, XM_011524500.1:c.286C>A, XM_011524502.3:c.286C>A, XM_011524502.2:c.286C>A, XM_011524502.1:c.286C>A, NM_001256124.2:c.286C>A, NM_001256124.1:c.286C>A, XM_017024344.2:c.286C>A, XM_017024344.1:c.286C>A, XM_047435580.1:c.286C>A, XM_047435581.1:c.286C>A, XM_047435583.1:c.286C>A, XM_047435584.1:c.286C>A, XM_047435585.1:c.286C>A, XP_006721823.1:p.Pro96Thr, NP_775818.2:p.Pro96Thr, XP_006721824.1:p.Pro96Thr, XP_011522805.1:p.Pro96Thr, XP_011522801.1:p.Pro96Thr, XP_011522803.1:p.Pro96Thr, XP_011522802.1:p.Pro96Thr, XP_011522804.1:p.Pro96Thr, NP_001243053.1:p.Pro96Thr, XP_016879833.1:p.Pro96Thr, XP_047291536.1:p.Pro96Thr, XP_047291537.1:p.Pro96Thr, XP_047291539.1:p.Pro96Thr, XP_047291540.1:p.Pro96Thr, XP_047291541.1:p.Pro96Thr
                              20.

                              rs1449055513 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                17:75896702 (GRCh38)
                                17:73892783 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:75896701:C:T
                                Gene:
                                TRIM65 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,non_coding_transcript_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_000017.11:g.75896702C>T, NC_000017.10:g.73892783C>T, XM_006721760.4:c.236G>A, XM_006721760.3:c.236G>A, XM_006721760.2:c.236G>A, XM_006721760.1:c.236G>A, NM_173547.4:c.236G>A, NM_173547.3:c.236G>A, XM_006721761.4:c.236G>A, XM_006721761.3:c.236G>A, XM_006721761.2:c.236G>A, XM_006721761.1:c.236G>A, XM_011524503.3:c.236G>A, XM_011524503.2:c.236G>A, XM_011524503.1:c.236G>A, XM_011524499.3:c.236G>A, XM_011524499.2:c.236G>A, XM_011524499.1:c.236G>A, XM_011524501.3:c.236G>A, XM_011524501.2:c.236G>A, XM_011524501.1:c.236G>A, XR_934419.3:n.250G>A, XR_934419.2:n.307G>A, XR_934419.1:n.296G>A, XM_011524500.3:c.236G>A, XM_011524500.2:c.236G>A, XM_011524500.1:c.236G>A, XM_011524502.3:c.236G>A, XM_011524502.2:c.236G>A, XM_011524502.1:c.236G>A, NM_001256124.2:c.236G>A, NM_001256124.1:c.236G>A, XM_017024344.2:c.236G>A, XM_017024344.1:c.236G>A, XM_047435580.1:c.236G>A, XM_047435581.1:c.236G>A, XM_047435583.1:c.236G>A, XM_047435584.1:c.236G>A, XM_047435585.1:c.236G>A, XP_006721823.1:p.Arg79Gln, NP_775818.2:p.Arg79Gln, XP_006721824.1:p.Arg79Gln, XP_011522805.1:p.Arg79Gln, XP_011522801.1:p.Arg79Gln, XP_011522803.1:p.Arg79Gln, XP_011522802.1:p.Arg79Gln, XP_011522804.1:p.Arg79Gln, NP_001243053.1:p.Arg79Gln, XP_016879833.1:p.Arg79Gln, XP_047291536.1:p.Arg79Gln, XP_047291537.1:p.Arg79Gln, XP_047291539.1:p.Arg79Gln, XP_047291540.1:p.Arg79Gln, XP_047291541.1:p.Arg79Gln

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