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Items: 1 to 20 of 283

1.

rs1482189840 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    11:64225822 (GRCh38)
    11:63993294 (GRCh37)
    Canonical SPDI:
    NC_000011.10:64225821:C:A,NC_000011.10:64225821:C:T
    Gene:
    TRPT1 (Varview), NUDT22 (Varview)
    Functional Consequence:
    intron_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    T=0.000006/1 (GnomAD_exomes)
    HGVS:
    NC_000011.10:g.64225822C>A, NC_000011.10:g.64225822C>T, NC_000011.9:g.63993294C>A, NC_000011.9:g.63993294C>T, NG_016360.1:g.24143C>A, NG_016360.1:g.24143C>T, XM_005274345.5:c.39G>T, XM_005274345.5:c.39G>A, XM_005274345.4:c.39G>T, XM_005274345.4:c.39G>A, XM_005274345.3:c.39G>T, XM_005274345.3:c.39G>A, XM_005274345.2:c.39G>T, XM_005274345.2:c.39G>A, XM_005274345.1:c.39G>T, XM_005274345.1:c.39G>A, XM_005274346.5:c.39G>T, XM_005274346.5:c.39G>A, XM_005274346.4:c.39G>T, XM_005274346.4:c.39G>A, XM_005274346.3:c.39G>T, XM_005274346.3:c.39G>A, XM_005274346.2:c.39G>T, XM_005274346.2:c.39G>A, XM_005274346.1:c.39G>T, XM_005274346.1:c.39G>A, NM_001033678.4:c.39G>T, NM_001033678.4:c.39G>A, NM_001033678.3:c.39G>T, NM_001033678.3:c.39G>A, XM_006718707.4:c.39G>T, XM_006718707.4:c.39G>A, XM_006718707.3:c.39G>T, XM_006718707.3:c.39G>A, XM_006718707.2:c.39G>T, XM_006718707.2:c.39G>A, XM_006718707.1:c.39G>T, XM_006718707.1:c.39G>A, NM_001160389.2:c.39G>T, NM_001160389.2:c.39G>A, NM_001160389.1:c.39G>T, NM_001160389.1:c.39G>A, NM_001160390.2:c.39G>T, NM_001160390.2:c.39G>A, NM_001160390.1:c.39G>T, NM_001160390.1:c.39G>A, XM_024448708.2:c.39G>T, XM_024448708.2:c.39G>A, XM_024448708.1:c.39G>T, XM_024448708.1:c.39G>A, XM_024448709.2:c.39G>T, XM_024448709.2:c.39G>A, XM_024448709.1:c.39G>T, XM_024448709.1:c.39G>A, NM_001160392.2:c.39G>T, NM_001160392.2:c.39G>A, NM_001160392.1:c.39G>T, NM_001160392.1:c.39G>A, XM_047427680.1:c.39G>T, XM_047427680.1:c.39G>A, NM_001160393.1:c.39G>T, NM_001160393.1:c.39G>A, XM_047427679.1:c.39G>T, XM_047427679.1:c.39G>A

    2.

    rs1482029889 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      11:64223925 (GRCh38)
      11:63991397 (GRCh37)
      Canonical SPDI:
      NC_000011.10:64223924:T:G
      Gene:
      FERMT3 (Varview), TRPT1 (Varview)
      Functional Consequence:
      missense_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0.000047/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000011.10:g.64223925T>G, NC_000011.9:g.63991397T>G, NG_016360.1:g.22246T>G, XM_005274345.5:c.716A>C, XM_005274345.4:c.716A>C, XM_005274345.3:c.716A>C, XM_005274345.2:c.716A>C, XM_005274345.1:c.716A>C, XM_005274346.5:c.716A>C, XM_005274346.4:c.716A>C, XM_005274346.3:c.716A>C, XM_005274346.2:c.716A>C, XM_005274346.1:c.716A>C, XM_005274347.5:c.569A>C, XM_005274347.4:c.569A>C, XM_005274347.3:c.569A>C, XM_005274347.2:c.569A>C, XM_005274347.1:c.569A>C, NM_001033678.4:c.713A>C, NM_001033678.3:c.713A>C, XM_006718707.4:c.716A>C, XM_006718707.3:c.716A>C, XM_006718707.2:c.716A>C, XM_006718707.1:c.716A>C, NM_031472.4:c.566A>C, NM_031472.3:c.566A>C, NM_001160389.2:c.719A>C, NM_001160389.1:c.719A>C, NM_001160390.2:c.713A>C, NM_001160390.1:c.713A>C, XM_024448708.2:c.713A>C, XM_024448708.1:c.713A>C, XM_024448709.2:c.713A>C, XM_024448709.1:c.713A>C, XM_017018400.2:c.569A>C, XM_017018400.1:c.569A>C, NM_001160392.2:c.602A>C, NM_001160392.1:c.602A>C, NM_001330298.2:c.455A>C, NM_001330298.1:c.455A>C, XM_047427681.1:c.566A>C, XM_047427680.1:c.602A>C, NM_001160393.1:c.716A>C, XM_047427679.1:c.602A>C, XM_047427682.1:c.368A>C, XP_005274402.1:p.Gln239Pro, XP_005274403.1:p.Gln239Pro, XP_005274404.1:p.Gln190Pro, NP_001028850.2:p.Gln238Pro, XP_006718770.1:p.Gln239Pro, NP_113660.1:p.Gln189Pro, NP_001153861.1:p.Gln240Pro, NP_001153862.1:p.Gln238Pro, XP_024304476.1:p.Gln238Pro, XP_024304477.1:p.Gln238Pro, XP_016873889.1:p.Gln190Pro, NP_001153864.1:p.Gln201Pro, NP_001317227.1:p.Gln152Pro, XP_047283637.1:p.Gln189Pro, XP_047283636.1:p.Gln201Pro, NP_001153865.1:p.Gln239Pro, XP_047283635.1:p.Gln201Pro, XP_047283638.1:p.Gln123Pro

      3.

      rs1472705806 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        11:64224902 (GRCh38)
        11:63992374 (GRCh37)
        Canonical SPDI:
        NC_000011.10:64224901:G:A
        Gene:
        TRPT1 (Varview), NUDT22 (Varview)
        Functional Consequence:
        intron_variant,2KB_upstream_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant
        HGVS:
        NC_000011.10:g.64224902G>A, NC_000011.9:g.63992374G>A, NG_016360.1:g.23223G>A, XM_005274345.5:c.226C>T, XM_005274345.4:c.226C>T, XM_005274345.3:c.226C>T, XM_005274345.2:c.226C>T, XM_005274345.1:c.226C>T, XM_005274346.5:c.226C>T, XM_005274346.4:c.226C>T, XM_005274346.3:c.226C>T, XM_005274346.2:c.226C>T, XM_005274346.1:c.226C>T, XM_005274347.5:c.79C>T, XM_005274347.4:c.79C>T, XM_005274347.3:c.79C>T, XM_005274347.2:c.79C>T, XM_005274347.1:c.79C>T, NM_001033678.4:c.226C>T, NM_001033678.3:c.226C>T, XM_006718707.4:c.226C>T, XM_006718707.3:c.226C>T, XM_006718707.2:c.226C>T, XM_006718707.1:c.226C>T, NM_031472.4:c.79C>T, NM_031472.3:c.79C>T, NM_001160389.2:c.226C>T, NM_001160389.1:c.226C>T, NM_001160390.2:c.226C>T, NM_001160390.1:c.226C>T, XM_024448708.2:c.226C>T, XM_024448708.1:c.226C>T, XM_024448709.2:c.226C>T, XM_024448709.1:c.226C>T, XM_017018400.2:c.79C>T, XM_017018400.1:c.79C>T, NM_001160392.2:c.226C>T, NM_001160392.1:c.226C>T, NM_001330298.2:c.79C>T, NM_001330298.1:c.79C>T, XM_047427681.1:c.79C>T, XM_047427680.1:c.226C>T, NM_001160393.1:c.226C>T, XM_047427679.1:c.226C>T, XP_005274402.1:p.Gln76Ter, XP_005274403.1:p.Gln76Ter, XP_005274404.1:p.Gln27Ter, NP_001028850.2:p.Gln76Ter, XP_006718770.1:p.Gln76Ter, NP_113660.1:p.Gln27Ter, NP_001153861.1:p.Gln76Ter, NP_001153862.1:p.Gln76Ter, XP_024304476.1:p.Gln76Ter, XP_024304477.1:p.Gln76Ter, XP_016873889.1:p.Gln27Ter, NP_001153864.1:p.Gln76Ter, NP_001317227.1:p.Gln27Ter, XP_047283637.1:p.Gln27Ter, XP_047283636.1:p.Gln76Ter, NP_001153865.1:p.Gln76Ter, XP_047283635.1:p.Gln76Ter

        4.

        rs1471727962 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          11:64224639 (GRCh38)
          11:63992111 (GRCh37)
          Canonical SPDI:
          NC_000011.10:64224638:G:A
          Gene:
          TRPT1 (Varview), NUDT22 (Varview)
          Functional Consequence:
          upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
          HGVS:
          NC_000011.10:g.64224639G>A, NC_000011.9:g.63992111G>A, NG_016360.1:g.22960G>A, XM_005274345.5:c.406C>T, XM_005274345.4:c.406C>T, XM_005274345.3:c.406C>T, XM_005274345.2:c.406C>T, XM_005274345.1:c.406C>T, XM_005274346.5:c.406C>T, XM_005274346.4:c.406C>T, XM_005274346.3:c.406C>T, XM_005274346.2:c.406C>T, XM_005274346.1:c.406C>T, XM_005274347.5:c.259C>T, XM_005274347.4:c.259C>T, XM_005274347.3:c.259C>T, XM_005274347.2:c.259C>T, XM_005274347.1:c.259C>T, NM_001033678.4:c.406C>T, NM_001033678.3:c.406C>T, XM_006718707.4:c.406C>T, XM_006718707.3:c.406C>T, XM_006718707.2:c.406C>T, XM_006718707.1:c.406C>T, NM_031472.4:c.259C>T, NM_031472.3:c.259C>T, NM_001160389.2:c.412C>T, NM_001160389.1:c.412C>T, NM_001160390.2:c.406C>T, NM_001160390.1:c.406C>T, XM_024448708.2:c.406C>T, XM_024448708.1:c.406C>T, XM_024448709.2:c.406C>T, XM_024448709.1:c.406C>T, XM_017018400.2:c.259C>T, XM_017018400.1:c.259C>T, NM_001160392.2:c.406C>T, NM_001160392.1:c.406C>T, NM_001330298.2:c.259C>T, NM_001330298.1:c.259C>T, XM_047427681.1:c.259C>T, XM_047427680.1:c.406C>T, NM_001160393.1:c.406C>T, XM_047427679.1:c.406C>T, XM_047427682.1:c.61C>T, XP_005274402.1:p.His136Tyr, XP_005274403.1:p.His136Tyr, XP_005274404.1:p.His87Tyr, NP_001028850.2:p.His136Tyr, XP_006718770.1:p.His136Tyr, NP_113660.1:p.His87Tyr, NP_001153861.1:p.His138Tyr, NP_001153862.1:p.His136Tyr, XP_024304476.1:p.His136Tyr, XP_024304477.1:p.His136Tyr, XP_016873889.1:p.His87Tyr, NP_001153864.1:p.His136Tyr, NP_001317227.1:p.His87Tyr, XP_047283637.1:p.His87Tyr, XP_047283636.1:p.His136Tyr, NP_001153865.1:p.His136Tyr, XP_047283635.1:p.His136Tyr, XP_047283638.1:p.His21Tyr

          5.

          rs1468042112 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            11:64225797 (GRCh38)
            11:63993269 (GRCh37)
            Canonical SPDI:
            NC_000011.10:64225796:G:A
            Gene:
            TRPT1 (Varview), NUDT22 (Varview)
            Functional Consequence:
            missense_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant
            HGVS:
            NC_000011.10:g.64225797G>A, NC_000011.9:g.63993269G>A, NG_016360.1:g.24118G>A, XM_005274345.5:c.64C>T, XM_005274345.4:c.64C>T, XM_005274345.3:c.64C>T, XM_005274345.2:c.64C>T, XM_005274345.1:c.64C>T, XM_005274346.5:c.64C>T, XM_005274346.4:c.64C>T, XM_005274346.3:c.64C>T, XM_005274346.2:c.64C>T, XM_005274346.1:c.64C>T, NM_001033678.4:c.64C>T, NM_001033678.3:c.64C>T, XM_006718707.4:c.64C>T, XM_006718707.3:c.64C>T, XM_006718707.2:c.64C>T, XM_006718707.1:c.64C>T, NM_001160389.2:c.64C>T, NM_001160389.1:c.64C>T, NM_001160390.2:c.64C>T, NM_001160390.1:c.64C>T, XM_024448708.2:c.64C>T, XM_024448708.1:c.64C>T, XM_024448709.2:c.64C>T, XM_024448709.1:c.64C>T, NM_001160392.2:c.64C>T, NM_001160392.1:c.64C>T, XM_047427680.1:c.64C>T, NM_001160393.1:c.64C>T, XM_047427679.1:c.64C>T, XP_005274402.1:p.Pro22Ser, XP_005274403.1:p.Pro22Ser, NP_001028850.2:p.Pro22Ser, XP_006718770.1:p.Pro22Ser, NP_001153861.1:p.Pro22Ser, NP_001153862.1:p.Pro22Ser, XP_024304476.1:p.Pro22Ser, XP_024304477.1:p.Pro22Ser, NP_001153864.1:p.Pro22Ser, XP_047283636.1:p.Pro22Ser, NP_001153865.1:p.Pro22Ser, XP_047283635.1:p.Pro22Ser

            6.

            rs1467866588 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              11:64224644 (GRCh38)
              11:63992116 (GRCh37)
              Canonical SPDI:
              NC_000011.10:64224643:C:T
              Gene:
              TRPT1 (Varview), NUDT22 (Varview)
              Functional Consequence:
              coding_sequence_variant,stop_gained,2KB_upstream_variant,upstream_transcript_variant
              HGVS:
              NC_000011.10:g.64224644C>T, NC_000011.9:g.63992116C>T, NG_016360.1:g.22965C>T, XM_005274345.5:c.401G>A, XM_005274345.4:c.401G>A, XM_005274345.3:c.401G>A, XM_005274345.2:c.401G>A, XM_005274345.1:c.401G>A, XM_005274346.5:c.401G>A, XM_005274346.4:c.401G>A, XM_005274346.3:c.401G>A, XM_005274346.2:c.401G>A, XM_005274346.1:c.401G>A, XM_005274347.5:c.254G>A, XM_005274347.4:c.254G>A, XM_005274347.3:c.254G>A, XM_005274347.2:c.254G>A, XM_005274347.1:c.254G>A, NM_001033678.4:c.401G>A, NM_001033678.3:c.401G>A, XM_006718707.4:c.401G>A, XM_006718707.3:c.401G>A, XM_006718707.2:c.401G>A, XM_006718707.1:c.401G>A, NM_031472.4:c.254G>A, NM_031472.3:c.254G>A, NM_001160389.2:c.407G>A, NM_001160389.1:c.407G>A, NM_001160390.2:c.401G>A, NM_001160390.1:c.401G>A, XM_024448708.2:c.401G>A, XM_024448708.1:c.401G>A, XM_024448709.2:c.401G>A, XM_024448709.1:c.401G>A, XM_017018400.2:c.254G>A, XM_017018400.1:c.254G>A, NM_001160392.2:c.401G>A, NM_001160392.1:c.401G>A, NM_001330298.2:c.254G>A, NM_001330298.1:c.254G>A, XM_047427681.1:c.254G>A, XM_047427680.1:c.401G>A, NM_001160393.1:c.401G>A, XM_047427679.1:c.401G>A, XM_047427682.1:c.56G>A, XP_005274402.1:p.Trp134Ter, XP_005274403.1:p.Trp134Ter, XP_005274404.1:p.Trp85Ter, NP_001028850.2:p.Trp134Ter, XP_006718770.1:p.Trp134Ter, NP_113660.1:p.Trp85Ter, NP_001153861.1:p.Trp136Ter, NP_001153862.1:p.Trp134Ter, XP_024304476.1:p.Trp134Ter, XP_024304477.1:p.Trp134Ter, XP_016873889.1:p.Trp85Ter, NP_001153864.1:p.Trp134Ter, NP_001317227.1:p.Trp85Ter, XP_047283637.1:p.Trp85Ter, XP_047283636.1:p.Trp134Ter, NP_001153865.1:p.Trp134Ter, XP_047283635.1:p.Trp134Ter, XP_047283638.1:p.Trp19Ter

              7.

              rs1467599722 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                11:64224615 (GRCh38)
                11:63992088 (GRCh37)
                Canonical SPDI:
                NC_000011.10:64224615:TTT:TTTT
                Gene:
                TRPT1 (Varview), NUDT22 (Varview)
                Functional Consequence:
                coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                TTTT=0./0 (ALFA)
                T=0.000014/2 (GnomAD)
                T=0.000026/7 (TOPMED)
                HGVS:
                NC_000011.10:g.64224618dup, NC_000011.9:g.63992090dup, NG_016360.1:g.22939dup, XM_005274345.5:c.429dup, XM_005274345.4:c.429dup, XM_005274345.3:c.429dup, XM_005274345.2:c.429dup, XM_005274345.1:c.429dup, XM_005274346.5:c.429dup, XM_005274346.4:c.429dup, XM_005274346.3:c.429dup, XM_005274346.2:c.429dup, XM_005274346.1:c.429dup, XM_005274347.5:c.282dup, XM_005274347.4:c.282dup, XM_005274347.3:c.282dup, XM_005274347.2:c.282dup, XM_005274347.1:c.282dup, NM_001033678.4:c.429dup, NM_001033678.3:c.429dup, XM_006718707.4:c.429dup, XM_006718707.3:c.429dup, XM_006718707.2:c.429dup, XM_006718707.1:c.429dup, NM_031472.4:c.282dup, NM_031472.3:c.282dup, NM_001160389.2:c.435dup, NM_001160389.1:c.435dup, NM_001160390.2:c.429dup, NM_001160390.1:c.429dup, XM_024448708.2:c.429dup, XM_024448708.1:c.429dup, XM_024448709.2:c.429dup, XM_024448709.1:c.429dup, XM_017018400.2:c.282dup, XM_017018400.1:c.282dup, NM_001160392.2:c.429dup, NM_001160392.1:c.429dup, NM_001330298.2:c.282dup, NM_001330298.1:c.282dup, XM_047427681.1:c.282dup, XM_047427680.1:c.429dup, NM_001160393.1:c.429dup, XM_047427679.1:c.429dup, XM_047427682.1:c.84dup, XP_005274402.1:p.Gly144fs, XP_005274403.1:p.Gly144fs, XP_005274404.1:p.Gly95fs, NP_001028850.2:p.Gly144fs, XP_006718770.1:p.Gly144fs, NP_113660.1:p.Gly95fs, NP_001153861.1:p.Gly146fs, NP_001153862.1:p.Gly144fs, XP_024304476.1:p.Gly144fs, XP_024304477.1:p.Gly144fs, XP_016873889.1:p.Gly95fs, NP_001153864.1:p.Gly144fs, NP_001317227.1:p.Gly95fs, XP_047283637.1:p.Gly95fs, XP_047283636.1:p.Gly144fs, NP_001153865.1:p.Gly144fs, XP_047283635.1:p.Gly144fs, XP_047283638.1:p.Gly29fs

                8.

                rs1465293241 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  11:64224967 (GRCh38)
                  11:63992439 (GRCh37)
                  Canonical SPDI:
                  NC_000011.10:64224966:C:T
                  Gene:
                  TRPT1 (Varview), NUDT22 (Varview)
                  Functional Consequence:
                  missense_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,coding_sequence_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_000011.10:g.64224967C>T, NC_000011.9:g.63992439C>T, NG_016360.1:g.23288C>T, XM_005274345.5:c.161G>A, XM_005274345.4:c.161G>A, XM_005274345.3:c.161G>A, XM_005274345.2:c.161G>A, XM_005274345.1:c.161G>A, XM_005274346.5:c.161G>A, XM_005274346.4:c.161G>A, XM_005274346.3:c.161G>A, XM_005274346.2:c.161G>A, XM_005274346.1:c.161G>A, XM_005274347.5:c.14G>A, XM_005274347.4:c.14G>A, XM_005274347.3:c.14G>A, XM_005274347.2:c.14G>A, XM_005274347.1:c.14G>A, NM_001033678.4:c.161G>A, NM_001033678.3:c.161G>A, XM_006718707.4:c.161G>A, XM_006718707.3:c.161G>A, XM_006718707.2:c.161G>A, XM_006718707.1:c.161G>A, NM_031472.4:c.14G>A, NM_031472.3:c.14G>A, NM_001160389.2:c.161G>A, NM_001160389.1:c.161G>A, NM_001160390.2:c.161G>A, NM_001160390.1:c.161G>A, XM_024448708.2:c.161G>A, XM_024448708.1:c.161G>A, XM_024448709.2:c.161G>A, XM_024448709.1:c.161G>A, XM_017018400.2:c.14G>A, XM_017018400.1:c.14G>A, NM_001160392.2:c.161G>A, NM_001160392.1:c.161G>A, NM_001330298.2:c.14G>A, NM_001330298.1:c.14G>A, XM_047427681.1:c.14G>A, XM_047427680.1:c.161G>A, NM_001160393.1:c.161G>A, XM_047427679.1:c.161G>A, XP_005274402.1:p.Gly54Asp, XP_005274403.1:p.Gly54Asp, XP_005274404.1:p.Gly5Asp, NP_001028850.2:p.Gly54Asp, XP_006718770.1:p.Gly54Asp, NP_113660.1:p.Gly5Asp, NP_001153861.1:p.Gly54Asp, NP_001153862.1:p.Gly54Asp, XP_024304476.1:p.Gly54Asp, XP_024304477.1:p.Gly54Asp, XP_016873889.1:p.Gly5Asp, NP_001153864.1:p.Gly54Asp, NP_001317227.1:p.Gly5Asp, XP_047283637.1:p.Gly5Asp, XP_047283636.1:p.Gly54Asp, NP_001153865.1:p.Gly54Asp, XP_047283635.1:p.Gly54Asp

                  9.

                  rs1462780803 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    11:64223881 (GRCh38)
                    11:63991353 (GRCh37)
                    Canonical SPDI:
                    NC_000011.10:64223880:G:A
                    Gene:
                    FERMT3 (Varview), TRPT1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,stop_gained,3_prime_UTR_variant
                    Validated:
                    by frequency
                    MAF:
                    A=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000011.10:g.64223881G>A, NC_000011.9:g.63991353G>A, NG_016360.1:g.22202G>A, NM_031471.6:c.*389G>A, NM_031471.5:c.*389G>A, NM_178443.3:c.*389G>A, NM_178443.2:c.*389G>A, NM_001382448.1:c.*389G>A, NM_001382362.1:c.*389G>A, NM_001382361.1:c.*389G>A, NM_001382364.1:c.*389G>A, NM_001382363.1:c.*389G>A, XM_005274345.5:c.760C>T, XM_005274345.4:c.760C>T, XM_005274345.3:c.760C>T, XM_005274345.2:c.760C>T, XM_005274345.1:c.760C>T, XM_005274346.5:c.760C>T, XM_005274346.4:c.760C>T, XM_005274346.3:c.760C>T, XM_005274346.2:c.760C>T, XM_005274346.1:c.760C>T, XM_005274347.5:c.613C>T, XM_005274347.4:c.613C>T, XM_005274347.3:c.613C>T, XM_005274347.2:c.613C>T, XM_005274347.1:c.613C>T, NM_001033678.4:c.757C>T, NM_001033678.3:c.757C>T, XM_006718707.4:c.760C>T, XM_006718707.3:c.760C>T, XM_006718707.2:c.760C>T, XM_006718707.1:c.760C>T, NM_031472.4:c.610C>T, NM_031472.3:c.610C>T, NM_001160389.2:c.763C>T, NM_001160389.1:c.763C>T, NM_001160390.2:c.757C>T, NM_001160390.1:c.757C>T, XM_024448708.2:c.757C>T, XM_024448708.1:c.757C>T, XM_024448709.2:c.757C>T, XM_024448709.1:c.757C>T, XM_017018400.2:c.613C>T, XM_017018400.1:c.613C>T, NM_001160392.2:c.646C>T, NM_001160392.1:c.646C>T, NM_001330298.2:c.499C>T, NM_001330298.1:c.499C>T, XM_047427676.1:c.*389G>A, XM_047427681.1:c.610C>T, XM_047427680.1:c.646C>T, NM_001160393.1:c.760C>T, XM_047427679.1:c.646C>T, XM_047427682.1:c.412C>T, XP_005274402.1:p.Gln254Ter, XP_005274403.1:p.Gln254Ter, XP_005274404.1:p.Gln205Ter, NP_001028850.2:p.Gln253Ter, XP_006718770.1:p.Gln254Ter, NP_113660.1:p.Gln204Ter, NP_001153861.1:p.Gln255Ter, NP_001153862.1:p.Gln253Ter, XP_024304476.1:p.Gln253Ter, XP_024304477.1:p.Gln253Ter, XP_016873889.1:p.Gln205Ter, NP_001153864.1:p.Gln216Ter, NP_001317227.1:p.Gln167Ter, XP_047283637.1:p.Gln204Ter, XP_047283636.1:p.Gln216Ter, NP_001153865.1:p.Gln254Ter, XP_047283635.1:p.Gln216Ter, XP_047283638.1:p.Gln138Ter

                    10.

                    rs1458436970 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      11:64225551 (GRCh38)
                      11:63993023 (GRCh37)
                      Canonical SPDI:
                      NC_000011.10:64225550:C:T
                      Gene:
                      TRPT1 (Varview), NUDT22 (Varview)
                      Functional Consequence:
                      synonymous_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000004/1 (GnomAD_exomes)
                      T=0.000004/1 (TOPMED)
                      T=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000011.10:g.64225551C>T, NC_000011.9:g.63993023C>T, NG_016360.1:g.23872C>T, XM_005274345.5:c.105G>A, XM_005274345.4:c.105G>A, XM_005274345.3:c.105G>A, XM_005274345.2:c.105G>A, XM_005274345.1:c.105G>A, XM_005274346.5:c.105G>A, XM_005274346.4:c.105G>A, XM_005274346.3:c.105G>A, XM_005274346.2:c.105G>A, XM_005274346.1:c.105G>A, XM_005274347.5:c.-43G>A, XM_005274347.4:c.-43G>A, XM_005274347.3:c.-43G>A, XM_005274347.2:c.-43G>A, XM_005274347.1:c.-43G>A, NM_001033678.4:c.105G>A, NM_001033678.3:c.105G>A, XM_006718707.4:c.105G>A, XM_006718707.3:c.105G>A, XM_006718707.2:c.105G>A, XM_006718707.1:c.105G>A, NM_031472.4:c.-43G>A, NM_031472.3:c.-43G>A, NM_001160389.2:c.105G>A, NM_001160389.1:c.105G>A, NM_001160390.2:c.105G>A, NM_001160390.1:c.105G>A, XM_024448708.2:c.105G>A, XM_024448708.1:c.105G>A, XM_024448709.2:c.105G>A, XM_024448709.1:c.105G>A, XM_017018400.2:c.-43G>A, XM_017018400.1:c.-43G>A, NM_001160392.2:c.105G>A, NM_001160392.1:c.105G>A, NM_001330298.2:c.-43G>A, NM_001330298.1:c.-43G>A, XM_047427681.1:c.-43G>A, XM_047427680.1:c.105G>A, NM_001160393.1:c.105G>A, XM_047427679.1:c.105G>A, XM_047427682.1:c.-71G>A

                      11.

                      rs1455864903 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        11:64223888 (GRCh38)
                        11:63991360 (GRCh37)
                        Canonical SPDI:
                        NC_000011.10:64223887:C:T
                        Gene:
                        FERMT3 (Varview), TRPT1 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000007/1 (GnomAD)
                        T=0.000011/3 (TOPMED)
                        HGVS:
                        NC_000011.10:g.64223888C>T, NC_000011.9:g.63991360C>T, NG_016360.1:g.22209C>T, NM_031471.6:c.*396C>T, NM_031471.5:c.*396C>T, NM_178443.3:c.*396C>T, NM_178443.2:c.*396C>T, NM_001382448.1:c.*396C>T, NM_001382362.1:c.*396C>T, NM_001382361.1:c.*396C>T, NM_001382364.1:c.*396C>T, NM_001382363.1:c.*396C>T, XM_005274345.5:c.753G>A, XM_005274345.4:c.753G>A, XM_005274345.3:c.753G>A, XM_005274345.2:c.753G>A, XM_005274345.1:c.753G>A, XM_005274346.5:c.753G>A, XM_005274346.4:c.753G>A, XM_005274346.3:c.753G>A, XM_005274346.2:c.753G>A, XM_005274346.1:c.753G>A, XM_005274347.5:c.606G>A, XM_005274347.4:c.606G>A, XM_005274347.3:c.606G>A, XM_005274347.2:c.606G>A, XM_005274347.1:c.606G>A, NM_001033678.4:c.750G>A, NM_001033678.3:c.750G>A, XM_006718707.4:c.753G>A, XM_006718707.3:c.753G>A, XM_006718707.2:c.753G>A, XM_006718707.1:c.753G>A, NM_031472.4:c.603G>A, NM_031472.3:c.603G>A, NM_001160389.2:c.756G>A, NM_001160389.1:c.756G>A, NM_001160390.2:c.750G>A, NM_001160390.1:c.750G>A, XM_024448708.2:c.750G>A, XM_024448708.1:c.750G>A, XM_024448709.2:c.750G>A, XM_024448709.1:c.750G>A, XM_017018400.2:c.606G>A, XM_017018400.1:c.606G>A, NM_001160392.2:c.639G>A, NM_001160392.1:c.639G>A, NM_001330298.2:c.492G>A, NM_001330298.1:c.492G>A, XM_047427676.1:c.*396C>T, XM_047427681.1:c.603G>A, XM_047427680.1:c.639G>A, NM_001160393.1:c.753G>A, XM_047427679.1:c.639G>A, XM_047427682.1:c.405G>A

                        12.

                        rs1451241843 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          11:64225543 (GRCh38)
                          11:63993015 (GRCh37)
                          Canonical SPDI:
                          NC_000011.10:64225542:G:A,NC_000011.10:64225542:G:T
                          Gene:
                          TRPT1 (Varview), NUDT22 (Varview)
                          Functional Consequence:
                          upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000011.10:g.64225543G>A, NC_000011.10:g.64225543G>T, NC_000011.9:g.63993015G>A, NC_000011.9:g.63993015G>T, NG_016360.1:g.23864G>A, NG_016360.1:g.23864G>T, XM_005274345.5:c.113C>T, XM_005274345.5:c.113C>A, XM_005274345.4:c.113C>T, XM_005274345.4:c.113C>A, XM_005274345.3:c.113C>T, XM_005274345.3:c.113C>A, XM_005274345.2:c.113C>T, XM_005274345.2:c.113C>A, XM_005274345.1:c.113C>T, XM_005274345.1:c.113C>A, XM_005274346.5:c.113C>T, XM_005274346.5:c.113C>A, XM_005274346.4:c.113C>T, XM_005274346.4:c.113C>A, XM_005274346.3:c.113C>T, XM_005274346.3:c.113C>A, XM_005274346.2:c.113C>T, XM_005274346.2:c.113C>A, XM_005274346.1:c.113C>T, XM_005274346.1:c.113C>A, XM_005274347.5:c.-35C>T, XM_005274347.5:c.-35C>A, XM_005274347.4:c.-35C>T, XM_005274347.4:c.-35C>A, XM_005274347.3:c.-35C>T, XM_005274347.3:c.-35C>A, XM_005274347.2:c.-35C>T, XM_005274347.2:c.-35C>A, XM_005274347.1:c.-35C>T, XM_005274347.1:c.-35C>A, NM_001033678.4:c.113C>T, NM_001033678.4:c.113C>A, NM_001033678.3:c.113C>T, NM_001033678.3:c.113C>A, XM_006718707.4:c.113C>T, XM_006718707.4:c.113C>A, XM_006718707.3:c.113C>T, XM_006718707.3:c.113C>A, XM_006718707.2:c.113C>T, XM_006718707.2:c.113C>A, XM_006718707.1:c.113C>T, XM_006718707.1:c.113C>A, NM_031472.4:c.-35C>T, NM_031472.4:c.-35C>A, NM_031472.3:c.-35C>T, NM_031472.3:c.-35C>A, NM_001160389.2:c.113C>T, NM_001160389.2:c.113C>A, NM_001160389.1:c.113C>T, NM_001160389.1:c.113C>A, NM_001160390.2:c.113C>T, NM_001160390.2:c.113C>A, NM_001160390.1:c.113C>T, NM_001160390.1:c.113C>A, XM_024448708.2:c.113C>T, XM_024448708.2:c.113C>A, XM_024448708.1:c.113C>T, XM_024448708.1:c.113C>A, XM_024448709.2:c.113C>T, XM_024448709.2:c.113C>A, XM_024448709.1:c.113C>T, XM_024448709.1:c.113C>A, XM_017018400.2:c.-35C>T, XM_017018400.2:c.-35C>A, XM_017018400.1:c.-35C>T, XM_017018400.1:c.-35C>A, NM_001160392.2:c.113C>T, NM_001160392.2:c.113C>A, NM_001160392.1:c.113C>T, NM_001160392.1:c.113C>A, NM_001330298.2:c.-35C>T, NM_001330298.2:c.-35C>A, NM_001330298.1:c.-35C>T, NM_001330298.1:c.-35C>A, XM_047427681.1:c.-35C>T, XM_047427681.1:c.-35C>A, XM_047427680.1:c.113C>T, XM_047427680.1:c.113C>A, NM_001160393.1:c.113C>T, NM_001160393.1:c.113C>A, XM_047427679.1:c.113C>T, XM_047427679.1:c.113C>A, XM_047427682.1:c.-63C>T, XM_047427682.1:c.-63C>A, XP_005274402.1:p.Ala38Val, XP_005274402.1:p.Ala38Asp, XP_005274403.1:p.Ala38Val, XP_005274403.1:p.Ala38Asp, NP_001028850.2:p.Ala38Val, NP_001028850.2:p.Ala38Asp, XP_006718770.1:p.Ala38Val, XP_006718770.1:p.Ala38Asp, NP_001153861.1:p.Ala38Val, NP_001153861.1:p.Ala38Asp, NP_001153862.1:p.Ala38Val, NP_001153862.1:p.Ala38Asp, XP_024304476.1:p.Ala38Val, XP_024304476.1:p.Ala38Asp, XP_024304477.1:p.Ala38Val, XP_024304477.1:p.Ala38Asp, NP_001153864.1:p.Ala38Val, NP_001153864.1:p.Ala38Asp, XP_047283636.1:p.Ala38Val, XP_047283636.1:p.Ala38Asp, NP_001153865.1:p.Ala38Val, NP_001153865.1:p.Ala38Asp, XP_047283635.1:p.Ala38Val, XP_047283635.1:p.Ala38Asp

                          13.

                          rs1449385913 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            11:64224828 (GRCh38)
                            11:63992300 (GRCh37)
                            Canonical SPDI:
                            NC_000011.10:64224827:G:A
                            Gene:
                            TRPT1 (Varview), NUDT22 (Varview)
                            Functional Consequence:
                            intron_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,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=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000011.10:g.64224828G>A, NC_000011.9:g.63992300G>A, NG_016360.1:g.23149G>A, XM_005274345.5:c.300C>T, XM_005274345.4:c.300C>T, XM_005274345.3:c.300C>T, XM_005274345.2:c.300C>T, XM_005274345.1:c.300C>T, XM_005274346.5:c.300C>T, XM_005274346.4:c.300C>T, XM_005274346.3:c.300C>T, XM_005274346.2:c.300C>T, XM_005274346.1:c.300C>T, XM_005274347.5:c.153C>T, XM_005274347.4:c.153C>T, XM_005274347.3:c.153C>T, XM_005274347.2:c.153C>T, XM_005274347.1:c.153C>T, NM_001033678.4:c.300C>T, NM_001033678.3:c.300C>T, XM_006718707.4:c.300C>T, XM_006718707.3:c.300C>T, XM_006718707.2:c.300C>T, XM_006718707.1:c.300C>T, NM_031472.4:c.153C>T, NM_031472.3:c.153C>T, NM_001160389.2:c.300C>T, NM_001160389.1:c.300C>T, NM_001160390.2:c.300C>T, NM_001160390.1:c.300C>T, XM_024448708.2:c.300C>T, XM_024448708.1:c.300C>T, XM_024448709.2:c.300C>T, XM_024448709.1:c.300C>T, XM_017018400.2:c.153C>T, XM_017018400.1:c.153C>T, NM_001160392.2:c.300C>T, NM_001160392.1:c.300C>T, NM_001330298.2:c.153C>T, NM_001330298.1:c.153C>T, XM_047427681.1:c.153C>T, XM_047427680.1:c.300C>T, NM_001160393.1:c.300C>T, XM_047427679.1:c.300C>T

                            14.

                            rs1445959206 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              11:64224925 (GRCh38)
                              11:63992397 (GRCh37)
                              Canonical SPDI:
                              NC_000011.10:64224924:C:T
                              Gene:
                              TRPT1 (Varview), NUDT22 (Varview)
                              Functional Consequence:
                              intron_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000005/1 (GnomAD_exomes)
                              T=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000011.10:g.64224925C>T, NC_000011.9:g.63992397C>T, NG_016360.1:g.23246C>T, XM_005274345.5:c.203G>A, XM_005274345.4:c.203G>A, XM_005274345.3:c.203G>A, XM_005274345.2:c.203G>A, XM_005274345.1:c.203G>A, XM_005274346.5:c.203G>A, XM_005274346.4:c.203G>A, XM_005274346.3:c.203G>A, XM_005274346.2:c.203G>A, XM_005274346.1:c.203G>A, XM_005274347.5:c.56G>A, XM_005274347.4:c.56G>A, XM_005274347.3:c.56G>A, XM_005274347.2:c.56G>A, XM_005274347.1:c.56G>A, NM_001033678.4:c.203G>A, NM_001033678.3:c.203G>A, XM_006718707.4:c.203G>A, XM_006718707.3:c.203G>A, XM_006718707.2:c.203G>A, XM_006718707.1:c.203G>A, NM_031472.4:c.56G>A, NM_031472.3:c.56G>A, NM_001160389.2:c.203G>A, NM_001160389.1:c.203G>A, NM_001160390.2:c.203G>A, NM_001160390.1:c.203G>A, XM_024448708.2:c.203G>A, XM_024448708.1:c.203G>A, XM_024448709.2:c.203G>A, XM_024448709.1:c.203G>A, XM_017018400.2:c.56G>A, XM_017018400.1:c.56G>A, NM_001160392.2:c.203G>A, NM_001160392.1:c.203G>A, NM_001330298.2:c.56G>A, NM_001330298.1:c.56G>A, XM_047427681.1:c.56G>A, XM_047427680.1:c.203G>A, NM_001160393.1:c.203G>A, XM_047427679.1:c.203G>A, XP_005274402.1:p.Arg68His, XP_005274403.1:p.Arg68His, XP_005274404.1:p.Arg19His, NP_001028850.2:p.Arg68His, XP_006718770.1:p.Arg68His, NP_113660.1:p.Arg19His, NP_001153861.1:p.Arg68His, NP_001153862.1:p.Arg68His, XP_024304476.1:p.Arg68His, XP_024304477.1:p.Arg68His, XP_016873889.1:p.Arg19His, NP_001153864.1:p.Arg68His, NP_001317227.1:p.Arg19His, XP_047283637.1:p.Arg19His, XP_047283636.1:p.Arg68His, NP_001153865.1:p.Arg68His, XP_047283635.1:p.Arg68His

                              15.

                              rs1445707910 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GTA>- [Show Flanks]
                                Chromosome:
                                11:64224156 (GRCh38)
                                11:63991628 (GRCh37)
                                Canonical SPDI:
                                NC_000011.10:64224154:AGTA:A
                                Gene:
                                FERMT3 (Varview), TRPT1 (Varview)
                                Functional Consequence:
                                intron_variant,downstream_transcript_variant,coding_sequence_variant,inframe_deletion,500B_downstream_variant
                                Validated:
                                by frequency
                                MAF:
                                -=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000011.10:g.64224156_64224158del, NC_000011.9:g.63991628_63991630del, NG_016360.1:g.22477_22479del, XM_005274345.5:c.616_618del, XM_005274345.4:c.616_618del, XM_005274345.3:c.616_618del, XM_005274345.2:c.616_618del, XM_005274345.1:c.616_618del, XM_005274346.5:c.616_618del, XM_005274346.4:c.616_618del, XM_005274346.3:c.616_618del, XM_005274346.2:c.616_618del, XM_005274346.1:c.616_618del, XM_005274347.5:c.469_471del, XM_005274347.4:c.469_471del, XM_005274347.3:c.469_471del, XM_005274347.2:c.469_471del, XM_005274347.1:c.469_471del, NM_001033678.4:c.613_615del, NM_001033678.3:c.613_615del, XM_006718707.4:c.616_618del, XM_006718707.3:c.616_618del, XM_006718707.2:c.616_618del, XM_006718707.1:c.616_618del, NM_031472.4:c.466_468del, NM_031472.3:c.466_468del, NM_001160389.2:c.619_621del, NM_001160389.1:c.619_621del, NM_001160390.2:c.613_615del, NM_001160390.1:c.613_615del, XM_024448708.2:c.613_615del, XM_024448708.1:c.613_615del, XM_024448709.2:c.613_615del, XM_024448709.1:c.613_615del, XM_017018400.2:c.469_471del, XM_017018400.1:c.469_471del, XM_047427681.1:c.466_468del, NM_001160393.1:c.616_618del, XM_047427682.1:c.268_270del, XP_005274402.1:p.Thr206del, XP_005274403.1:p.Thr206del, XP_005274404.1:p.Thr157del, NP_001028850.2:p.Thr205del, XP_006718770.1:p.Thr206del, NP_113660.1:p.Thr156del, NP_001153861.1:p.Thr207del, NP_001153862.1:p.Thr205del, XP_024304476.1:p.Thr205del, XP_024304477.1:p.Thr205del, XP_016873889.1:p.Thr157del, XP_047283637.1:p.Thr156del, NP_001153865.1:p.Thr206del, XP_047283638.1:p.Thr90del

                                16.

                                rs1435331073 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  11:64224695 (GRCh38)
                                  11:63992167 (GRCh37)
                                  Canonical SPDI:
                                  NC_000011.10:64224694:G:A
                                  Gene:
                                  TRPT1 (Varview), NUDT22 (Varview)
                                  Functional Consequence:
                                  2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000011.10:g.64224695G>A, NC_000011.9:g.63992167G>A, NG_016360.1:g.23016G>A, XM_005274345.5:c.350C>T, XM_005274345.4:c.350C>T, XM_005274345.3:c.350C>T, XM_005274345.2:c.350C>T, XM_005274345.1:c.350C>T, XM_005274346.5:c.350C>T, XM_005274346.4:c.350C>T, XM_005274346.3:c.350C>T, XM_005274346.2:c.350C>T, XM_005274346.1:c.350C>T, XM_005274347.5:c.203C>T, XM_005274347.4:c.203C>T, XM_005274347.3:c.203C>T, XM_005274347.2:c.203C>T, XM_005274347.1:c.203C>T, NM_001033678.4:c.350C>T, NM_001033678.3:c.350C>T, XM_006718707.4:c.350C>T, XM_006718707.3:c.350C>T, XM_006718707.2:c.350C>T, XM_006718707.1:c.350C>T, NM_031472.4:c.203C>T, NM_031472.3:c.203C>T, NM_001160389.2:c.356C>T, NM_001160389.1:c.356C>T, NM_001160390.2:c.350C>T, NM_001160390.1:c.350C>T, XM_024448708.2:c.350C>T, XM_024448708.1:c.350C>T, XM_024448709.2:c.350C>T, XM_024448709.1:c.350C>T, XM_017018400.2:c.203C>T, XM_017018400.1:c.203C>T, NM_001160392.2:c.350C>T, NM_001160392.1:c.350C>T, NM_001330298.2:c.203C>T, NM_001330298.1:c.203C>T, XM_047427681.1:c.203C>T, XM_047427680.1:c.350C>T, NM_001160393.1:c.350C>T, XM_047427679.1:c.350C>T, XM_047427682.1:c.5C>T, XP_005274402.1:p.Pro117Leu, XP_005274403.1:p.Pro117Leu, XP_005274404.1:p.Pro68Leu, NP_001028850.2:p.Pro117Leu, XP_006718770.1:p.Pro117Leu, NP_113660.1:p.Pro68Leu, NP_001153861.1:p.Pro119Leu, NP_001153862.1:p.Pro117Leu, XP_024304476.1:p.Pro117Leu, XP_024304477.1:p.Pro117Leu, XP_016873889.1:p.Pro68Leu, NP_001153864.1:p.Pro117Leu, NP_001317227.1:p.Pro68Leu, XP_047283637.1:p.Pro68Leu, XP_047283636.1:p.Pro117Leu, NP_001153865.1:p.Pro117Leu, XP_047283635.1:p.Pro117Leu, XP_047283638.1:p.Pro2Leu

                                  17.

                                  rs1434171818 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    11:64224145 (GRCh38)
                                    11:63991617 (GRCh37)
                                    Canonical SPDI:
                                    NC_000011.10:64224144:G:A
                                    Gene:
                                    FERMT3 (Varview), TRPT1 (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0.000071/1 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000008/2 (GnomAD_exomes)
                                    A=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000011.10:g.64224145G>A, NC_000011.9:g.63991617G>A, NG_016360.1:g.22466G>A, XM_005274345.5:c.628C>T, XM_005274345.4:c.628C>T, XM_005274345.3:c.628C>T, XM_005274345.2:c.628C>T, XM_005274345.1:c.628C>T, XM_005274346.5:c.628C>T, XM_005274346.4:c.628C>T, XM_005274346.3:c.628C>T, XM_005274346.2:c.628C>T, XM_005274346.1:c.628C>T, XM_005274347.5:c.481C>T, XM_005274347.4:c.481C>T, XM_005274347.3:c.481C>T, XM_005274347.2:c.481C>T, XM_005274347.1:c.481C>T, NM_001033678.4:c.625C>T, NM_001033678.3:c.625C>T, XM_006718707.4:c.628C>T, XM_006718707.3:c.628C>T, XM_006718707.2:c.628C>T, XM_006718707.1:c.628C>T, NM_031472.4:c.478C>T, NM_031472.3:c.478C>T, NM_001160389.2:c.631C>T, NM_001160389.1:c.631C>T, NM_001160390.2:c.625C>T, NM_001160390.1:c.625C>T, XM_024448708.2:c.625C>T, XM_024448708.1:c.625C>T, XM_024448709.2:c.625C>T, XM_024448709.1:c.625C>T, XM_017018400.2:c.481C>T, XM_017018400.1:c.481C>T, XM_047427681.1:c.478C>T, NM_001160393.1:c.628C>T, XM_047427682.1:c.280C>T, XP_005274402.1:p.Leu210Phe, XP_005274403.1:p.Leu210Phe, XP_005274404.1:p.Leu161Phe, NP_001028850.2:p.Leu209Phe, XP_006718770.1:p.Leu210Phe, NP_113660.1:p.Leu160Phe, NP_001153861.1:p.Leu211Phe, NP_001153862.1:p.Leu209Phe, XP_024304476.1:p.Leu209Phe, XP_024304477.1:p.Leu209Phe, XP_016873889.1:p.Leu161Phe, XP_047283637.1:p.Leu160Phe, NP_001153865.1:p.Leu210Phe, XP_047283638.1:p.Leu94Phe

                                    18.

                                    rs1431537572 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->G [Show Flanks]
                                      Chromosome:
                                      11:64224296 (GRCh38)
                                      11:63991769 (GRCh37)
                                      Canonical SPDI:
                                      NC_000011.10:64224296:GGGG:GGGGG
                                      Gene:
                                      FERMT3 (Varview), TRPT1 (Varview), NUDT22 (Varview)
                                      Functional Consequence:
                                      frameshift_variant,coding_sequence_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GGGGG=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000011.10:g.64224300dup, NC_000011.9:g.63991772dup, NG_016360.1:g.22621dup, XM_005274345.5:c.547dup, XM_005274345.4:c.547dup, XM_005274345.3:c.547dup, XM_005274345.2:c.547dup, XM_005274345.1:c.547dup, XM_005274346.5:c.547dup, XM_005274346.4:c.547dup, XM_005274346.3:c.547dup, XM_005274346.2:c.547dup, XM_005274346.1:c.547dup, XM_005274347.5:c.400dup, XM_005274347.4:c.400dup, XM_005274347.3:c.400dup, XM_005274347.2:c.400dup, XM_005274347.1:c.400dup, NM_001033678.4:c.547dup, NM_001033678.3:c.547dup, XM_006718707.4:c.547dup, XM_006718707.3:c.547dup, XM_006718707.2:c.547dup, XM_006718707.1:c.547dup, NM_031472.4:c.400dup, NM_031472.3:c.400dup, NM_001160389.2:c.553dup, NM_001160389.1:c.553dup, NM_001160390.2:c.547dup, NM_001160390.1:c.547dup, XM_024448708.2:c.547dup, XM_024448708.1:c.547dup, XM_024448709.2:c.547dup, XM_024448709.1:c.547dup, XM_017018400.2:c.400dup, XM_017018400.1:c.400dup, NM_001160392.2:c.547dup, NM_001160392.1:c.547dup, NM_001330298.2:c.400dup, NM_001330298.1:c.400dup, XM_047427681.1:c.400dup, XM_047427680.1:c.547dup, NM_001160393.1:c.547dup, XM_047427679.1:c.547dup, XM_047427682.1:c.202dup, XP_005274402.1:p.Leu183fs, XP_005274403.1:p.Leu183fs, XP_005274404.1:p.Leu134fs, NP_001028850.2:p.Leu183fs, XP_006718770.1:p.Leu183fs, NP_113660.1:p.Leu134fs, NP_001153861.1:p.Leu185fs, NP_001153862.1:p.Leu183fs, XP_024304476.1:p.Leu183fs, XP_024304477.1:p.Leu183fs, XP_016873889.1:p.Leu134fs, NP_001153864.1:p.Leu183fs, NP_001317227.1:p.Leu134fs, XP_047283637.1:p.Leu134fs, XP_047283636.1:p.Leu183fs, NP_001153865.1:p.Leu183fs, XP_047283635.1:p.Leu183fs, XP_047283638.1:p.Leu68fs

                                      19.

                                      rs1429644873 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        11:64223950 (GRCh38)
                                        11:63991422 (GRCh37)
                                        Canonical SPDI:
                                        NC_000011.10:64223949:C:T
                                        Gene:
                                        FERMT3 (Varview), TRPT1 (Varview)
                                        Functional Consequence:
                                        missense_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000012/3 (GnomAD_exomes)
                                        HGVS:
                                        NC_000011.10:g.64223950C>T, NC_000011.9:g.63991422C>T, NG_016360.1:g.22271C>T, XM_005274345.5:c.691G>A, XM_005274345.4:c.691G>A, XM_005274345.3:c.691G>A, XM_005274345.2:c.691G>A, XM_005274345.1:c.691G>A, XM_005274346.5:c.691G>A, XM_005274346.4:c.691G>A, XM_005274346.3:c.691G>A, XM_005274346.2:c.691G>A, XM_005274346.1:c.691G>A, XM_005274347.5:c.544G>A, XM_005274347.4:c.544G>A, XM_005274347.3:c.544G>A, XM_005274347.2:c.544G>A, XM_005274347.1:c.544G>A, NM_001033678.4:c.688G>A, NM_001033678.3:c.688G>A, XM_006718707.4:c.691G>A, XM_006718707.3:c.691G>A, XM_006718707.2:c.691G>A, XM_006718707.1:c.691G>A, NM_031472.4:c.541G>A, NM_031472.3:c.541G>A, NM_001160389.2:c.694G>A, NM_001160389.1:c.694G>A, NM_001160390.2:c.688G>A, NM_001160390.1:c.688G>A, XM_024448708.2:c.688G>A, XM_024448708.1:c.688G>A, XM_024448709.2:c.688G>A, XM_024448709.1:c.688G>A, XM_017018400.2:c.544G>A, XM_017018400.1:c.544G>A, NM_001160392.2:c.577G>A, NM_001160392.1:c.577G>A, NM_001330298.2:c.430G>A, NM_001330298.1:c.430G>A, XM_047427681.1:c.541G>A, XM_047427680.1:c.577G>A, NM_001160393.1:c.691G>A, XM_047427679.1:c.577G>A, XM_047427682.1:c.343G>A, XP_005274402.1:p.Ala231Thr, XP_005274403.1:p.Ala231Thr, XP_005274404.1:p.Ala182Thr, NP_001028850.2:p.Ala230Thr, XP_006718770.1:p.Ala231Thr, NP_113660.1:p.Ala181Thr, NP_001153861.1:p.Ala232Thr, NP_001153862.1:p.Ala230Thr, XP_024304476.1:p.Ala230Thr, XP_024304477.1:p.Ala230Thr, XP_016873889.1:p.Ala182Thr, NP_001153864.1:p.Ala193Thr, NP_001317227.1:p.Ala144Thr, XP_047283637.1:p.Ala181Thr, XP_047283636.1:p.Ala193Thr, NP_001153865.1:p.Ala231Thr, XP_047283635.1:p.Ala193Thr, XP_047283638.1:p.Ala115Thr

                                        20.

                                        rs1428818363 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          11:64224208 (GRCh38)
                                          11:63991680 (GRCh37)
                                          Canonical SPDI:
                                          NC_000011.10:64224207:C:T
                                          Gene:
                                          FERMT3 (Varview), TRPT1 (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant,500B_downstream_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000011.10:g.64224208C>T, NC_000011.9:g.63991680C>T, NG_016360.1:g.22529C>T, XM_005274345.5:c.565G>A, XM_005274345.4:c.565G>A, XM_005274345.3:c.565G>A, XM_005274345.2:c.565G>A, XM_005274345.1:c.565G>A, XM_005274346.5:c.565G>A, XM_005274346.4:c.565G>A, XM_005274346.3:c.565G>A, XM_005274346.2:c.565G>A, XM_005274346.1:c.565G>A, XM_005274347.5:c.418G>A, XM_005274347.4:c.418G>A, XM_005274347.3:c.418G>A, XM_005274347.2:c.418G>A, XM_005274347.1:c.418G>A, NM_001033678.4:c.562G>A, NM_001033678.3:c.562G>A, XM_006718707.4:c.565G>A, XM_006718707.3:c.565G>A, XM_006718707.2:c.565G>A, XM_006718707.1:c.565G>A, NM_031472.4:c.415G>A, NM_031472.3:c.415G>A, NM_001160389.2:c.568G>A, NM_001160389.1:c.568G>A, NM_001160390.2:c.562G>A, NM_001160390.1:c.562G>A, XM_024448708.2:c.562G>A, XM_024448708.1:c.562G>A, XM_024448709.2:c.562G>A, XM_024448709.1:c.562G>A, XM_017018400.2:c.418G>A, XM_017018400.1:c.418G>A, XM_047427681.1:c.415G>A, NM_001160393.1:c.565G>A, XM_047427682.1:c.217G>A, XP_005274402.1:p.Gly189Arg, XP_005274403.1:p.Gly189Arg, XP_005274404.1:p.Gly140Arg, NP_001028850.2:p.Gly188Arg, XP_006718770.1:p.Gly189Arg, NP_113660.1:p.Gly139Arg, NP_001153861.1:p.Gly190Arg, NP_001153862.1:p.Gly188Arg, XP_024304476.1:p.Gly188Arg, XP_024304477.1:p.Gly188Arg, XP_016873889.1:p.Gly140Arg, XP_047283637.1:p.Gly139Arg, NP_001153865.1:p.Gly189Arg, XP_047283638.1:p.Gly73Arg

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