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Items: 1 to 20 of 552

2.

rs1487854287 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    1:228411089 (GRCh38)
    1:228598790 (GRCh37)
    Canonical SPDI:
    NC_000001.11:228411088:G:A
    Gene:
    TRIM17 (Varview), LOC124904537 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,stop_gained,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (GnomAD_exomes)
    A=0.000004/1 (TOPMED)
    A=0.000014/2 (GnomAD)
    HGVS:
    NC_000001.11:g.228411089G>A, NC_000001.10:g.228598790G>A, NW_018654708.1:g.2288G>A, XM_011544209.4:c.613C>T, XM_011544209.3:c.613C>T, XM_011544209.2:c.613C>T, XM_011544209.1:c.613C>T, XM_006711779.4:c.613C>T, XM_006711779.3:c.613C>T, XM_006711779.2:c.613C>T, XM_006711779.1:c.613C>T, XM_011544210.4:c.613C>T, XM_011544210.3:c.613C>T, XM_011544210.2:c.613C>T, XM_011544210.1:c.613C>T, XM_011544211.4:c.532C>T, XM_011544211.3:c.532C>T, XM_011544211.2:c.532C>T, XM_011544211.1:c.532C>T, NM_016102.4:c.613C>T, NM_016102.3:c.613C>T, NM_001024940.3:c.613C>T, NM_001024940.2:c.613C>T, XM_017001419.2:c.613C>T, XM_017001419.1:c.613C>T, NM_001024941.2:c.532C>T, NM_001134855.2:c.613C>T, NM_001134855.1:c.613C>T, XM_047422091.1:c.613C>T, XM_047422078.1:c.613C>T, XR_007066918.1:n.869G>A, XM_047422098.1:c.613C>T, XM_047422103.1:c.613C>T, XM_047422088.1:c.532C>T, NM_001024941.1:c.532C>T, XP_011542511.1:p.Gln205Ter, XP_006711842.1:p.Gln205Ter, XP_011542512.1:p.Gln205Ter, XP_011542513.1:p.Gln178Ter, NP_057186.1:p.Gln205Ter, NP_001020111.1:p.Gln205Ter, XP_016856908.1:p.Gln205Ter, NP_001128327.1:p.Gln205Ter, XP_047278047.1:p.Gln205Ter, XP_047278034.1:p.Gln205Ter, XP_047278054.1:p.Gln205Ter, XP_047278059.1:p.Gln205Ter, XP_047278044.1:p.Gln178Ter
    3.

    rs1486263857 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      1:228414694 (GRCh38)
      1:228602395 (GRCh37)
      Canonical SPDI:
      NC_000001.11:228414693:G:A
      Gene:
      TRIM17 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (GnomAD_exomes)
      A=0.000008/2 (TOPMED)
      HGVS:
      NC_000001.11:g.228414694G>A, NC_000001.10:g.228602395G>A, NW_018654708.1:g.5893G>A, XM_011544209.4:c.379C>T, XM_011544209.3:c.379C>T, XM_011544209.2:c.379C>T, XM_011544209.1:c.379C>T, XM_006711779.4:c.379C>T, XM_006711779.3:c.379C>T, XM_006711779.2:c.379C>T, XM_006711779.1:c.379C>T, XM_011544210.4:c.379C>T, XM_011544210.3:c.379C>T, XM_011544210.2:c.379C>T, XM_011544210.1:c.379C>T, XM_011544211.4:c.298C>T, XM_011544211.3:c.298C>T, XM_011544211.2:c.298C>T, XM_011544211.1:c.298C>T, NM_016102.4:c.379C>T, NM_016102.3:c.379C>T, NM_001024940.3:c.379C>T, NM_001024940.2:c.379C>T, XM_017001419.2:c.379C>T, XM_017001419.1:c.379C>T, NM_001024941.2:c.298C>T, NM_001134855.2:c.379C>T, NM_001134855.1:c.379C>T, XM_047422091.1:c.379C>T, XM_047422078.1:c.379C>T, XM_047422098.1:c.379C>T, XM_047422103.1:c.379C>T, XM_047422088.1:c.298C>T, NM_001024941.1:c.298C>T, XP_011542511.1:p.His127Tyr, XP_006711842.1:p.His127Tyr, XP_011542512.1:p.His127Tyr, XP_011542513.1:p.His100Tyr, NP_057186.1:p.His127Tyr, NP_001020111.1:p.His127Tyr, XP_016856908.1:p.His127Tyr, NP_001128327.1:p.His127Tyr, XP_047278047.1:p.His127Tyr, XP_047278034.1:p.His127Tyr, XP_047278054.1:p.His127Tyr, XP_047278059.1:p.His127Tyr, XP_047278044.1:p.His100Tyr
      4.

      rs1485153778 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G [Show Flanks]
        Chromosome:
        1:228408750 (GRCh38)
        1:228596451 (GRCh37)
        Canonical SPDI:
        NC_000001.11:228408749:C:G
        Gene:
        TRIM17 (Varview), TRIM11 (Varview), LOC124904537 (Varview)
        Functional Consequence:
        upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000001.11:g.228408750C>G, NC_000001.10:g.228596451C>G, XM_011544209.4:c.885G>C, XM_011544209.3:c.885G>C, XM_011544209.2:c.885G>C, XM_011544209.1:c.885G>C, XM_006711779.4:c.885G>C, XM_006711779.3:c.885G>C, XM_006711779.2:c.885G>C, XM_006711779.1:c.885G>C, XM_011544210.4:c.885G>C, XM_011544210.3:c.885G>C, XM_011544210.2:c.885G>C, XM_011544210.1:c.885G>C, XM_011544211.4:c.804G>C, XM_011544211.3:c.804G>C, XM_011544211.2:c.804G>C, XM_011544211.1:c.804G>C, NM_016102.4:c.885G>C, NM_016102.3:c.885G>C, NM_001024940.3:c.885G>C, NM_001024940.2:c.885G>C, XM_017001419.2:c.*512G>C, XM_017001419.1:c.*512G>C, NM_001024941.2:c.804G>C, XM_047422091.1:c.*512G>C, XM_047422078.1:c.885G>C, XM_047422098.1:c.*512G>C, XM_047422103.1:c.*512G>C, XM_047422088.1:c.804G>C, NM_001024941.1:c.804G>C, XP_011542511.1:p.Glu295Asp, XP_006711842.1:p.Glu295Asp, XP_011542512.1:p.Glu295Asp, XP_011542513.1:p.Glu268Asp, NP_057186.1:p.Glu295Asp, NP_001020111.1:p.Glu295Asp, XP_047278034.1:p.Glu295Asp, XP_047278044.1:p.Glu268Asp
        5.

        rs1485081245 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          A>- [Show Flanks]
          Chromosome:
          1:228411009 (GRCh38)
          1:228598710 (GRCh37)
          Canonical SPDI:
          NC_000001.11:228411008:A:
          Gene:
          TRIM17 (Varview), LOC124904537 (Varview)
          Functional Consequence:
          frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.228411009del, NC_000001.10:g.228598710del, NW_018654708.1:g.2208del, XM_011544209.4:c.693del, XM_011544209.3:c.693del, XM_011544209.2:c.693del, XM_011544209.1:c.693del, XM_006711779.4:c.693del, XM_006711779.3:c.693del, XM_006711779.2:c.693del, XM_006711779.1:c.693del, XM_011544210.4:c.693del, XM_011544210.3:c.693del, XM_011544210.2:c.693del, XM_011544210.1:c.693del, XM_011544211.4:c.612del, XM_011544211.3:c.612del, XM_011544211.2:c.612del, XM_011544211.1:c.612del, NM_016102.4:c.693del, NM_016102.3:c.693del, NM_001024940.3:c.693del, NM_001024940.2:c.693del, XM_017001419.2:c.693del, XM_017001419.1:c.693del, NM_001024941.2:c.612del, NM_001134855.2:c.693del, NM_001134855.1:c.693del, XM_047422091.1:c.693del, XM_047422078.1:c.693del, XR_007066918.1:n.789del, XM_047422098.1:c.693del, XM_047422103.1:c.693del, XM_047422088.1:c.612del, NM_001024941.1:c.612del, XP_011542511.1:p.Leu232fs, XP_006711842.1:p.Leu232fs, XP_011542512.1:p.Leu232fs, XP_011542513.1:p.Leu205fs, NP_057186.1:p.Leu232fs, NP_001020111.1:p.Leu232fs, XP_016856908.1:p.Leu232fs, NP_001128327.1:p.Leu232fs, XP_047278047.1:p.Leu232fs, XP_047278034.1:p.Leu232fs, XP_047278054.1:p.Leu232fs, XP_047278059.1:p.Leu232fs, XP_047278044.1:p.Leu205fs
          6.
          7.

          rs1481745569 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:228408621 (GRCh38)
            1:228596322 (GRCh37)
            Canonical SPDI:
            NC_000001.11:228408620:G:A
            Gene:
            TRIM17 (Varview), TRIM11 (Varview), LOC124904537 (Varview)
            Functional Consequence:
            2KB_upstream_variant,downstream_transcript_variant,synonymous_variant,upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000008/2 (GnomAD_exomes)
            HGVS:
            8.

            rs1481713185 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              1:228409393 (GRCh38)
              1:228597094 (GRCh37)
              Canonical SPDI:
              NC_000001.11:228409392:T:C
              Gene:
              TRIM17 (Varview), LOC124904537 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,coding_sequence_variant,missense_variant
              Validated:
              by frequency
              MAF:
              C=0.000005/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.228409393T>C, NC_000001.10:g.228597094T>C, NW_018654708.1:g.592T>C, XM_011544209.4:c.775A>G, XM_011544209.3:c.775A>G, XM_011544209.2:c.775A>G, XM_011544209.1:c.775A>G, XM_006711779.4:c.775A>G, XM_006711779.3:c.775A>G, XM_006711779.2:c.775A>G, XM_006711779.1:c.775A>G, XM_011544210.4:c.775A>G, XM_011544210.3:c.775A>G, XM_011544210.2:c.775A>G, XM_011544210.1:c.775A>G, XM_011544211.4:c.694A>G, XM_011544211.3:c.694A>G, XM_011544211.2:c.694A>G, XM_011544211.1:c.694A>G, NM_016102.4:c.775A>G, NM_016102.3:c.775A>G, NM_001024940.3:c.775A>G, NM_001024940.2:c.775A>G, XM_017001419.2:c.775A>G, XM_017001419.1:c.775A>G, NM_001024941.2:c.694A>G, NM_001134855.2:c.775A>G, NM_001134855.1:c.775A>G, XM_047422091.1:c.775A>G, XM_047422078.1:c.775A>G, XR_007066918.1:n.123T>C, XM_047422098.1:c.775A>G, XM_047422103.1:c.775A>G, XM_047422088.1:c.694A>G, NM_001024941.1:c.694A>G, XP_011542511.1:p.Ser259Gly, XP_006711842.1:p.Ser259Gly, XP_011542512.1:p.Ser259Gly, XP_011542513.1:p.Ser232Gly, NP_057186.1:p.Ser259Gly, NP_001020111.1:p.Ser259Gly, XP_016856908.1:p.Ser259Gly, NP_001128327.1:p.Ser259Gly, XP_047278047.1:p.Ser259Gly, XP_047278034.1:p.Ser259Gly, XP_047278054.1:p.Ser259Gly, XP_047278059.1:p.Ser259Gly, XP_047278044.1:p.Ser232Gly
              9.

              rs1479042611 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                1:228408359 (GRCh38)
                1:228596060 (GRCh37)
                Canonical SPDI:
                NC_000001.11:228408358:C:T
                Gene:
                TRIM17 (Varview), TRIM11 (Varview), LOC124904537 (Varview)
                Functional Consequence:
                2KB_upstream_variant,downstream_transcript_variant,missense_variant,upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000001.11:g.228408359C>T, NC_000001.10:g.228596060C>T, XM_011544209.4:c.1276G>A, XM_011544209.3:c.1276G>A, XM_011544209.2:c.1276G>A, XM_011544209.1:c.1276G>A, XM_006711779.4:c.1276G>A, XM_006711779.3:c.1276G>A, XM_006711779.2:c.1276G>A, XM_006711779.1:c.1276G>A, XM_011544210.4:c.1276G>A, XM_011544210.3:c.1276G>A, XM_011544210.2:c.1276G>A, XM_011544210.1:c.1276G>A, XM_011544211.4:c.1195G>A, XM_011544211.3:c.1195G>A, XM_011544211.2:c.1195G>A, XM_011544211.1:c.1195G>A, NM_016102.4:c.1276G>A, NM_016102.3:c.1276G>A, NM_001024940.3:c.1276G>A, NM_001024940.2:c.1276G>A, XM_017001419.2:c.*903G>A, XM_017001419.1:c.*903G>A, NM_001024941.2:c.1195G>A, XM_047422091.1:c.*903G>A, XM_047422078.1:c.1276G>A, XM_047422098.1:c.*903G>A, XM_047422103.1:c.*903G>A, XM_047422088.1:c.1195G>A, NM_001024941.1:c.1195G>A, XP_011542511.1:p.Ala426Thr, XP_006711842.1:p.Ala426Thr, XP_011542512.1:p.Ala426Thr, XP_011542513.1:p.Ala399Thr, NP_057186.1:p.Ala426Thr, NP_001020111.1:p.Ala426Thr, XP_047278034.1:p.Ala426Thr, XP_047278044.1:p.Ala399Thr
                10.

                rs1478083791 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,T [Show Flanks]
                  Chromosome:
                  1:228408358 (GRCh38)
                  1:228596059 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:228408357:G:A,NC_000001.11:228408357:G:T
                  Gene:
                  TRIM17 (Varview), TRIM11 (Varview), LOC124904537 (Varview)
                  Functional Consequence:
                  2KB_upstream_variant,downstream_transcript_variant,missense_variant,upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000027/1 (ALFA)
                  T=0.000004/1 (GnomAD_exomes)
                  A=0.000004/1 (TOPMED)
                  A=0.000014/2 (GnomAD)
                  A=0.000223/1 (Estonian)
                  HGVS:
                  NC_000001.11:g.228408358G>A, NC_000001.11:g.228408358G>T, NC_000001.10:g.228596059G>A, NC_000001.10:g.228596059G>T, XM_011544209.4:c.1277C>T, XM_011544209.4:c.1277C>A, XM_011544209.3:c.1277C>T, XM_011544209.3:c.1277C>A, XM_011544209.2:c.1277C>T, XM_011544209.2:c.1277C>A, XM_011544209.1:c.1277C>T, XM_011544209.1:c.1277C>A, XM_006711779.4:c.1277C>T, XM_006711779.4:c.1277C>A, XM_006711779.3:c.1277C>T, XM_006711779.3:c.1277C>A, XM_006711779.2:c.1277C>T, XM_006711779.2:c.1277C>A, XM_006711779.1:c.1277C>T, XM_006711779.1:c.1277C>A, XM_011544210.4:c.1277C>T, XM_011544210.4:c.1277C>A, XM_011544210.3:c.1277C>T, XM_011544210.3:c.1277C>A, XM_011544210.2:c.1277C>T, XM_011544210.2:c.1277C>A, XM_011544210.1:c.1277C>T, XM_011544210.1:c.1277C>A, XM_011544211.4:c.1196C>T, XM_011544211.4:c.1196C>A, XM_011544211.3:c.1196C>T, XM_011544211.3:c.1196C>A, XM_011544211.2:c.1196C>T, XM_011544211.2:c.1196C>A, XM_011544211.1:c.1196C>T, XM_011544211.1:c.1196C>A, NM_016102.4:c.1277C>T, NM_016102.4:c.1277C>A, NM_016102.3:c.1277C>T, NM_016102.3:c.1277C>A, NM_001024940.3:c.1277C>T, NM_001024940.3:c.1277C>A, NM_001024940.2:c.1277C>T, NM_001024940.2:c.1277C>A, XM_017001419.2:c.*904C>T, XM_017001419.2:c.*904C>A, XM_017001419.1:c.*904C>T, XM_017001419.1:c.*904C>A, NM_001024941.2:c.1196C>T, NM_001024941.2:c.1196C>A, XM_047422091.1:c.*904C>T, XM_047422091.1:c.*904C>A, XM_047422078.1:c.1277C>T, XM_047422078.1:c.1277C>A, XM_047422098.1:c.*904C>T, XM_047422098.1:c.*904C>A, XM_047422103.1:c.*904C>T, XM_047422103.1:c.*904C>A, XM_047422088.1:c.1196C>T, XM_047422088.1:c.1196C>A, NM_001024941.1:c.1196C>T, NM_001024941.1:c.1196C>A, XP_011542511.1:p.Ala426Val, XP_011542511.1:p.Ala426Asp, XP_006711842.1:p.Ala426Val, XP_006711842.1:p.Ala426Asp, XP_011542512.1:p.Ala426Val, XP_011542512.1:p.Ala426Asp, XP_011542513.1:p.Ala399Val, XP_011542513.1:p.Ala399Asp, NP_057186.1:p.Ala426Val, NP_057186.1:p.Ala426Asp, NP_001020111.1:p.Ala426Val, NP_001020111.1:p.Ala426Asp, XP_047278034.1:p.Ala426Val, XP_047278034.1:p.Ala426Asp, XP_047278044.1:p.Ala399Val, XP_047278044.1:p.Ala399Asp
                  11.

                  rs1476053738 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:228411175 (GRCh38)
                    1:228598876 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:228411174:C:T
                    Gene:
                    TRIM17 (Varview), LOC124904537 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by cluster
                    MAF:
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000001.11:g.228411175C>T, NC_000001.10:g.228598876C>T, NW_018654708.1:g.2374C>T, XM_011544209.4:c.527G>A, XM_011544209.3:c.527G>A, XM_011544209.2:c.527G>A, XM_011544209.1:c.527G>A, XM_006711779.4:c.527G>A, XM_006711779.3:c.527G>A, XM_006711779.2:c.527G>A, XM_006711779.1:c.527G>A, XM_011544210.4:c.527G>A, XM_011544210.3:c.527G>A, XM_011544210.2:c.527G>A, XM_011544210.1:c.527G>A, XM_011544211.4:c.446G>A, XM_011544211.3:c.446G>A, XM_011544211.2:c.446G>A, XM_011544211.1:c.446G>A, NM_016102.4:c.527G>A, NM_016102.3:c.527G>A, NM_001024940.3:c.527G>A, NM_001024940.2:c.527G>A, XM_017001419.2:c.527G>A, XM_017001419.1:c.527G>A, NM_001024941.2:c.446G>A, NM_001134855.2:c.527G>A, NM_001134855.1:c.527G>A, XM_047422091.1:c.527G>A, XM_047422078.1:c.527G>A, XR_007066918.1:n.955C>T, XM_047422098.1:c.527G>A, XM_047422103.1:c.527G>A, XM_047422088.1:c.446G>A, NM_001024941.1:c.446G>A, XP_011542511.1:p.Gly176Asp, XP_006711842.1:p.Gly176Asp, XP_011542512.1:p.Gly176Asp, XP_011542513.1:p.Gly149Asp, NP_057186.1:p.Gly176Asp, NP_001020111.1:p.Gly176Asp, XP_016856908.1:p.Gly176Asp, NP_001128327.1:p.Gly176Asp, XP_047278047.1:p.Gly176Asp, XP_047278034.1:p.Gly176Asp, XP_047278054.1:p.Gly176Asp, XP_047278059.1:p.Gly176Asp, XP_047278044.1:p.Gly149Asp
                    12.

                    rs1476038720 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      1:228414644 (GRCh38)
                      1:228602345 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:228414643:C:G
                      Gene:
                      TRIM17 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000007/1 (GnomAD)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000001.11:g.228414644C>G, NC_000001.10:g.228602345C>G, NW_018654708.1:g.5843C>G, XM_011544209.4:c.429G>C, XM_011544209.3:c.429G>C, XM_011544209.2:c.429G>C, XM_011544209.1:c.429G>C, XM_006711779.4:c.429G>C, XM_006711779.3:c.429G>C, XM_006711779.2:c.429G>C, XM_006711779.1:c.429G>C, XM_011544210.4:c.429G>C, XM_011544210.3:c.429G>C, XM_011544210.2:c.429G>C, XM_011544210.1:c.429G>C, XM_011544211.4:c.348G>C, XM_011544211.3:c.348G>C, XM_011544211.2:c.348G>C, XM_011544211.1:c.348G>C, NM_016102.4:c.429G>C, NM_016102.3:c.429G>C, NM_001024940.3:c.429G>C, NM_001024940.2:c.429G>C, XM_017001419.2:c.429G>C, XM_017001419.1:c.429G>C, NM_001024941.2:c.348G>C, NM_001134855.2:c.429G>C, NM_001134855.1:c.429G>C, XM_047422091.1:c.429G>C, XM_047422078.1:c.429G>C, XM_047422098.1:c.429G>C, XM_047422103.1:c.429G>C, XM_047422088.1:c.348G>C, NM_001024941.1:c.348G>C, XP_011542511.1:p.Lys143Asn, XP_006711842.1:p.Lys143Asn, XP_011542512.1:p.Lys143Asn, XP_011542513.1:p.Lys116Asn, NP_057186.1:p.Lys143Asn, NP_001020111.1:p.Lys143Asn, XP_016856908.1:p.Lys143Asn, NP_001128327.1:p.Lys143Asn, XP_047278047.1:p.Lys143Asn, XP_047278034.1:p.Lys143Asn, XP_047278054.1:p.Lys143Asn, XP_047278059.1:p.Lys143Asn, XP_047278044.1:p.Lys116Asn
                      16.

                      rs1469880215 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CTTCT>- [Show Flanks]
                        Chromosome:
                        1:228411068 (GRCh38)
                        1:228598769 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:228411065:CTCTTCT:CT
                        Gene:
                        TRIM17 (Varview), LOC124904537 (Varview)
                        Functional Consequence:
                        frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        CT=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.228411068_228411072del, NC_000001.10:g.228598769_228598773del, NW_018654708.1:g.2267_2271del, XM_011544209.4:c.632_636del, XM_011544209.3:c.632_636del, XM_011544209.2:c.632_636del, XM_011544209.1:c.632_636del, XM_006711779.4:c.632_636del, XM_006711779.3:c.632_636del, XM_006711779.2:c.632_636del, XM_006711779.1:c.632_636del, XM_011544210.4:c.632_636del, XM_011544210.3:c.632_636del, XM_011544210.2:c.632_636del, XM_011544210.1:c.632_636del, XM_011544211.4:c.551_555del, XM_011544211.3:c.551_555del, XM_011544211.2:c.551_555del, XM_011544211.1:c.551_555del, NM_016102.4:c.632_636del, NM_016102.3:c.632_636del, NM_001024940.3:c.632_636del, NM_001024940.2:c.632_636del, XM_017001419.2:c.632_636del, XM_017001419.1:c.632_636del, NM_001024941.2:c.551_555del, NM_001134855.2:c.632_636del, NM_001134855.1:c.632_636del, XM_047422091.1:c.632_636del, XM_047422078.1:c.632_636del, XR_007066918.1:n.848_852del, XM_047422098.1:c.632_636del, XM_047422103.1:c.632_636del, XM_047422088.1:c.551_555del, NM_001024941.1:c.551_555del, XP_011542511.1:p.Glu211fs, XP_006711842.1:p.Glu211fs, XP_011542512.1:p.Glu211fs, XP_011542513.1:p.Glu184fs, NP_057186.1:p.Glu211fs, NP_001020111.1:p.Glu211fs, XP_016856908.1:p.Glu211fs, NP_001128327.1:p.Glu211fs, XP_047278047.1:p.Glu211fs, XP_047278034.1:p.Glu211fs, XP_047278054.1:p.Glu211fs, XP_047278059.1:p.Glu211fs, XP_047278044.1:p.Glu184fs
                        17.

                        rs1468697874 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          1:228408310 (GRCh38)
                          1:228596011 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:228408309:G:A
                          Gene:
                          TRIM17 (Varview), TRIM11 (Varview), LOC124904537 (Varview)
                          Functional Consequence:
                          2KB_upstream_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,missense_variant,downstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.228408310G>A, NC_000001.10:g.228596011G>A, XM_011544209.4:c.1325C>T, XM_011544209.3:c.1325C>T, XM_011544209.2:c.1325C>T, XM_011544209.1:c.1325C>T, XM_006711779.4:c.1325C>T, XM_006711779.3:c.1325C>T, XM_006711779.2:c.1325C>T, XM_006711779.1:c.1325C>T, XM_011544210.4:c.1325C>T, XM_011544210.3:c.1325C>T, XM_011544210.2:c.1325C>T, XM_011544210.1:c.1325C>T, XM_011544211.4:c.1244C>T, XM_011544211.3:c.1244C>T, XM_011544211.2:c.1244C>T, XM_011544211.1:c.1244C>T, NM_016102.4:c.1325C>T, NM_016102.3:c.1325C>T, NM_001024940.3:c.1325C>T, NM_001024940.2:c.1325C>T, XM_017001419.2:c.*952C>T, XM_017001419.1:c.*952C>T, NM_001024941.2:c.1244C>T, XM_047422091.1:c.*952C>T, XM_047422078.1:c.1325C>T, XM_047422098.1:c.*952C>T, XM_047422103.1:c.*952C>T, XM_047422088.1:c.1244C>T, NM_001024941.1:c.1244C>T, XP_011542511.1:p.Thr442Ile, XP_006711842.1:p.Thr442Ile, XP_011542512.1:p.Thr442Ile, XP_011542513.1:p.Thr415Ile, NP_057186.1:p.Thr442Ile, NP_001020111.1:p.Thr442Ile, XP_047278034.1:p.Thr442Ile, XP_047278044.1:p.Thr415Ile
                          20.

                          rs1466970779 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            1:228408551 (GRCh38)
                            1:228596252 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:228408550:C:A
                            Gene:
                            TRIM17 (Varview), TRIM11 (Varview), LOC124904537 (Varview)
                            Functional Consequence:
                            upstream_transcript_variant,2KB_upstream_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000001.11:g.228408551C>A, NC_000001.10:g.228596252C>A, XM_011544209.4:c.1084G>T, XM_011544209.3:c.1084G>T, XM_011544209.2:c.1084G>T, XM_011544209.1:c.1084G>T, XM_006711779.4:c.1084G>T, XM_006711779.3:c.1084G>T, XM_006711779.2:c.1084G>T, XM_006711779.1:c.1084G>T, XM_011544210.4:c.1084G>T, XM_011544210.3:c.1084G>T, XM_011544210.2:c.1084G>T, XM_011544210.1:c.1084G>T, XM_011544211.4:c.1003G>T, XM_011544211.3:c.1003G>T, XM_011544211.2:c.1003G>T, XM_011544211.1:c.1003G>T, NM_016102.4:c.1084G>T, NM_016102.3:c.1084G>T, NM_001024940.3:c.1084G>T, NM_001024940.2:c.1084G>T, XM_017001419.2:c.*711G>T, XM_017001419.1:c.*711G>T, NM_001024941.2:c.1003G>T, XM_047422091.1:c.*711G>T, XM_047422078.1:c.1084G>T, XM_047422098.1:c.*711G>T, XM_047422103.1:c.*711G>T, XM_047422088.1:c.1003G>T, NM_001024941.1:c.1003G>T, XP_011542511.1:p.Asp362Tyr, XP_006711842.1:p.Asp362Tyr, XP_011542512.1:p.Asp362Tyr, XP_011542513.1:p.Asp335Tyr, NP_057186.1:p.Asp362Tyr, NP_001020111.1:p.Asp362Tyr, XP_047278034.1:p.Asp362Tyr, XP_047278044.1:p.Asp335Tyr

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