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Items: 1 to 20 of 1000

1.

rs1490147679 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    16:1506536 (GRCh38)
    16:1556537 (GRCh37)
    Canonical SPDI:
    NC_000016.10:1506535:C:G
    Gene:
    TELO2 (Varview)
    Functional Consequence:
    intron_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000011/3 (TOPMED)
    G=0.000014/2 (GnomAD)
    HGVS:
    NC_000016.10:g.1506536C>G, NC_000016.9:g.1556537C>G, NG_050910.1:g.18193C>G, XM_011522773.4:c.2183C>G, XM_011522773.3:c.2183C>G, XM_011522773.2:c.2183C>G, XM_011522773.1:c.2183C>G, XM_011522775.4:c.2183C>G, XM_011522775.3:c.2183C>G, XM_011522775.2:c.2183C>G, XM_011522775.1:c.2183C>G, XM_011522777.4:c.*56C>G, XM_011522777.3:c.*56C>G, XM_011522777.2:c.*56C>G, XM_011522777.1:c.*56C>G, XM_011522778.4:c.*60C>G, XM_011522778.3:c.*60C>G, XM_011522778.2:c.*60C>G, XM_011522778.1:c.*60C>G, XM_011522774.3:c.2183C>G, XM_011522774.2:c.2183C>G, XM_011522774.1:c.2183C>G, XM_011522776.3:c.2183C>G, XM_011522776.2:c.2183C>G, XM_011522776.1:c.2183C>G, XM_047434990.1:c.*22C>G, XM_047434989.1:c.*22C>G, XP_011521075.1:p.Ala728Gly, XP_011521077.1:p.Ala728Gly, XP_011521076.1:p.Ala728Gly, XP_011521078.1:p.Ala728Gly

    2.

    rs1490057728 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      16:1501469 (GRCh38)
      16:1551470 (GRCh37)
      Canonical SPDI:
      NC_000016.10:1501468:A:G
      Gene:
      TELO2 (Varview)
      Functional Consequence:
      coding_sequence_variant,intron_variant,missense_variant
      HGVS:
      NC_000016.10:g.1501469A>G, NC_000016.9:g.1551470A>G, NG_050910.1:g.13126A>G, NM_016111.4:c.1331A>G, NM_016111.3:c.1331A>G, NM_001351846.2:c.1331A>G, NM_001351846.1:c.1331A>G, XM_011522773.4:c.1331A>G, XM_011522773.3:c.1331A>G, XM_011522773.2:c.1331A>G, XM_011522773.1:c.1331A>G, XM_011522775.4:c.1331A>G, XM_011522775.3:c.1331A>G, XM_011522775.2:c.1331A>G, XM_011522775.1:c.1331A>G, XM_011522777.4:c.1331A>G, XM_011522777.3:c.1331A>G, XM_011522777.2:c.1331A>G, XM_011522777.1:c.1331A>G, XM_011522778.4:c.1331A>G, XM_011522778.3:c.1331A>G, XM_011522778.2:c.1331A>G, XM_011522778.1:c.1331A>G, XM_011522774.3:c.1331A>G, XM_011522774.2:c.1331A>G, XM_011522774.1:c.1331A>G, XM_011522776.3:c.1331A>G, XM_011522776.2:c.1331A>G, XM_011522776.1:c.1331A>G, XM_047434987.1:c.1331A>G, XM_047434988.1:c.1331A>G, XM_047434990.1:c.1331A>G, XM_047434989.1:c.1331A>G, XM_047434991.1:c.1331A>G, XM_047434992.1:c.1331A>G, NP_057195.2:p.Gln444Arg, NP_001338775.1:p.Gln444Arg, XP_011521075.1:p.Gln444Arg, XP_011521077.1:p.Gln444Arg, XP_011521079.1:p.Gln444Arg, XP_011521080.1:p.Gln444Arg, XP_011521076.1:p.Gln444Arg, XP_011521078.1:p.Gln444Arg, XP_047290943.1:p.Gln444Arg, XP_047290944.1:p.Gln444Arg, XP_047290946.1:p.Gln444Arg, XP_047290945.1:p.Gln444Arg, XP_047290947.1:p.Gln444Arg, XP_047290948.1:p.Gln444Arg

      3.

      rs1490042886 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>T [Show Flanks]
        Chromosome:
        16:1500380 (GRCh38)
        16:1550381 (GRCh37)
        Canonical SPDI:
        NC_000016.10:1500379:A:T
        Gene:
        TELO2 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        T=0.000005/1 (GnomAD_exomes)
        HGVS:
        NC_000016.10:g.1500380A>T, NC_000016.9:g.1550381A>T, NG_050910.1:g.12037A>T, NM_016111.4:c.1036A>T, NM_016111.3:c.1036A>T, NM_001351846.2:c.1036A>T, NM_001351846.1:c.1036A>T, XM_011522773.4:c.1036A>T, XM_011522773.3:c.1036A>T, XM_011522773.2:c.1036A>T, XM_011522773.1:c.1036A>T, XM_011522775.4:c.1036A>T, XM_011522775.3:c.1036A>T, XM_011522775.2:c.1036A>T, XM_011522775.1:c.1036A>T, XM_011522777.4:c.1036A>T, XM_011522777.3:c.1036A>T, XM_011522777.2:c.1036A>T, XM_011522777.1:c.1036A>T, XM_011522778.4:c.1036A>T, XM_011522778.3:c.1036A>T, XM_011522778.2:c.1036A>T, XM_011522778.1:c.1036A>T, XM_011522774.3:c.1036A>T, XM_011522774.2:c.1036A>T, XM_011522774.1:c.1036A>T, XM_011522776.3:c.1036A>T, XM_011522776.2:c.1036A>T, XM_011522776.1:c.1036A>T, XM_047434987.1:c.1036A>T, XM_047434988.1:c.1036A>T, XM_047434990.1:c.1036A>T, XM_047434989.1:c.1036A>T, XM_047434991.1:c.1036A>T, XM_047434992.1:c.1036A>T, XM_047434993.1:c.1036A>T, NP_057195.2:p.Ser346Cys, NP_001338775.1:p.Ser346Cys, XP_011521075.1:p.Ser346Cys, XP_011521077.1:p.Ser346Cys, XP_011521079.1:p.Ser346Cys, XP_011521080.1:p.Ser346Cys, XP_011521076.1:p.Ser346Cys, XP_011521078.1:p.Ser346Cys, XP_047290943.1:p.Ser346Cys, XP_047290944.1:p.Ser346Cys, XP_047290946.1:p.Ser346Cys, XP_047290945.1:p.Ser346Cys, XP_047290947.1:p.Ser346Cys, XP_047290948.1:p.Ser346Cys, XP_047290949.1:p.Ser346Cys

        4.

        rs1489308672 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          16:1500579 (GRCh38)
          16:1550580 (GRCh37)
          Canonical SPDI:
          NC_000016.10:1500578:G:C
          Gene:
          TELO2 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          C=0.000047/1 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000016.10:g.1500579G>C, NC_000016.9:g.1550580G>C, NG_050910.1:g.12236G>C, NM_016111.4:c.1161G>C, NM_016111.3:c.1161G>C, NM_001351846.2:c.1161G>C, NM_001351846.1:c.1161G>C, XM_011522773.4:c.1161G>C, XM_011522773.3:c.1161G>C, XM_011522773.2:c.1161G>C, XM_011522773.1:c.1161G>C, XM_011522775.4:c.1161G>C, XM_011522775.3:c.1161G>C, XM_011522775.2:c.1161G>C, XM_011522775.1:c.1161G>C, XM_011522777.4:c.1161G>C, XM_011522777.3:c.1161G>C, XM_011522777.2:c.1161G>C, XM_011522777.1:c.1161G>C, XM_011522778.4:c.1161G>C, XM_011522778.3:c.1161G>C, XM_011522778.2:c.1161G>C, XM_011522778.1:c.1161G>C, XM_011522774.3:c.1161G>C, XM_011522774.2:c.1161G>C, XM_011522774.1:c.1161G>C, XM_011522776.3:c.1161G>C, XM_011522776.2:c.1161G>C, XM_011522776.1:c.1161G>C, XM_047434987.1:c.1161G>C, XM_047434988.1:c.1161G>C, XM_047434990.1:c.1161G>C, XM_047434989.1:c.1161G>C, XM_047434991.1:c.1161G>C, XM_047434992.1:c.1161G>C, XM_047434993.1:c.1161G>C, NP_057195.2:p.Met387Ile, NP_001338775.1:p.Met387Ile, XP_011521075.1:p.Met387Ile, XP_011521077.1:p.Met387Ile, XP_011521079.1:p.Met387Ile, XP_011521080.1:p.Met387Ile, XP_011521076.1:p.Met387Ile, XP_011521078.1:p.Met387Ile, XP_047290943.1:p.Met387Ile, XP_047290944.1:p.Met387Ile, XP_047290946.1:p.Met387Ile, XP_047290945.1:p.Met387Ile, XP_047290947.1:p.Met387Ile, XP_047290948.1:p.Met387Ile, XP_047290949.1:p.Met387Ile

          5.

          rs1488978480 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            16:1494488 (GRCh38)
            16:1544489 (GRCh37)
            Canonical SPDI:
            NC_000016.10:1494487:G:A
            Gene:
            TELO2 (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000016.10:g.1494488G>A, NC_000016.9:g.1544489G>A, NG_050910.1:g.6145G>A, NM_016111.4:c.207G>A, NM_016111.3:c.207G>A, NM_001351846.2:c.207G>A, NM_001351846.1:c.207G>A, XM_011522773.4:c.207G>A, XM_011522773.3:c.207G>A, XM_011522773.2:c.207G>A, XM_011522773.1:c.207G>A, XM_011522775.4:c.207G>A, XM_011522775.3:c.207G>A, XM_011522775.2:c.207G>A, XM_011522775.1:c.207G>A, XM_011522777.4:c.207G>A, XM_011522777.3:c.207G>A, XM_011522777.2:c.207G>A, XM_011522777.1:c.207G>A, XM_011522778.4:c.207G>A, XM_011522778.3:c.207G>A, XM_011522778.2:c.207G>A, XM_011522778.1:c.207G>A, XM_011522774.3:c.207G>A, XM_011522774.2:c.207G>A, XM_011522774.1:c.207G>A, XM_011522776.3:c.207G>A, XM_011522776.2:c.207G>A, XM_011522776.1:c.207G>A, XM_047434987.1:c.207G>A, XM_047434988.1:c.207G>A, XM_047434990.1:c.207G>A, XM_047434989.1:c.207G>A, XM_047434991.1:c.207G>A, XM_047434992.1:c.207G>A, XM_047434993.1:c.207G>A

            6.

            rs1488729515 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              16:1499256 (GRCh38)
              16:1549257 (GRCh37)
              Canonical SPDI:
              NC_000016.10:1499255:G:A
              Gene:
              TELO2 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_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_000016.10:g.1499256G>A, NC_000016.9:g.1549257G>A, NG_050910.1:g.10913G>A, NM_016111.4:c.856G>A, NM_016111.3:c.856G>A, NM_001351846.2:c.856G>A, NM_001351846.1:c.856G>A, XM_011522773.4:c.856G>A, XM_011522773.3:c.856G>A, XM_011522773.2:c.856G>A, XM_011522773.1:c.856G>A, XM_011522775.4:c.856G>A, XM_011522775.3:c.856G>A, XM_011522775.2:c.856G>A, XM_011522775.1:c.856G>A, XM_011522777.4:c.856G>A, XM_011522777.3:c.856G>A, XM_011522777.2:c.856G>A, XM_011522777.1:c.856G>A, XM_011522778.4:c.856G>A, XM_011522778.3:c.856G>A, XM_011522778.2:c.856G>A, XM_011522778.1:c.856G>A, XM_011522774.3:c.856G>A, XM_011522774.2:c.856G>A, XM_011522774.1:c.856G>A, XM_011522776.3:c.856G>A, XM_011522776.2:c.856G>A, XM_011522776.1:c.856G>A, XM_047434987.1:c.856G>A, XM_047434988.1:c.856G>A, XM_047434990.1:c.856G>A, XM_047434989.1:c.856G>A, XM_047434991.1:c.856G>A, XM_047434992.1:c.856G>A, XM_047434993.1:c.856G>A, NP_057195.2:p.Gly286Arg, NP_001338775.1:p.Gly286Arg, XP_011521075.1:p.Gly286Arg, XP_011521077.1:p.Gly286Arg, XP_011521079.1:p.Gly286Arg, XP_011521080.1:p.Gly286Arg, XP_011521076.1:p.Gly286Arg, XP_011521078.1:p.Gly286Arg, XP_047290943.1:p.Gly286Arg, XP_047290944.1:p.Gly286Arg, XP_047290946.1:p.Gly286Arg, XP_047290945.1:p.Gly286Arg, XP_047290947.1:p.Gly286Arg, XP_047290948.1:p.Gly286Arg, XP_047290949.1:p.Gly286Arg

              7.

              rs1486905553 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                16:1502941 (GRCh38)
                16:1552942 (GRCh37)
                Canonical SPDI:
                NC_000016.10:1502940:A:G
                Gene:
                TELO2 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_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_000016.10:g.1502941A>G, NC_000016.9:g.1552942A>G, NG_050910.1:g.14598A>G, NM_016111.4:c.1781A>G, NM_016111.3:c.1781A>G, NM_001351846.2:c.1781A>G, NM_001351846.1:c.1781A>G, XM_011522773.4:c.1781A>G, XM_011522773.3:c.1781A>G, XM_011522773.2:c.1781A>G, XM_011522773.1:c.1781A>G, XM_011522775.4:c.1781A>G, XM_011522775.3:c.1781A>G, XM_011522775.2:c.1781A>G, XM_011522775.1:c.1781A>G, XM_011522777.4:c.1781A>G, XM_011522777.3:c.1781A>G, XM_011522777.2:c.1781A>G, XM_011522777.1:c.1781A>G, XM_011522778.4:c.1781A>G, XM_011522778.3:c.1781A>G, XM_011522778.2:c.1781A>G, XM_011522778.1:c.1781A>G, XM_011522774.3:c.1781A>G, XM_011522774.2:c.1781A>G, XM_011522774.1:c.1781A>G, XM_011522776.3:c.1781A>G, XM_011522776.2:c.1781A>G, XM_011522776.1:c.1781A>G, XM_047434987.1:c.1781A>G, XM_047434988.1:c.1781A>G, XM_047434990.1:c.1781A>G, XM_047434989.1:c.1781A>G, XM_047434991.1:c.1781A>G, NP_057195.2:p.Tyr594Cys, NP_001338775.1:p.Tyr594Cys, XP_011521075.1:p.Tyr594Cys, XP_011521077.1:p.Tyr594Cys, XP_011521079.1:p.Tyr594Cys, XP_011521080.1:p.Tyr594Cys, XP_011521076.1:p.Tyr594Cys, XP_011521078.1:p.Tyr594Cys, XP_047290943.1:p.Tyr594Cys, XP_047290944.1:p.Tyr594Cys, XP_047290946.1:p.Tyr594Cys, XP_047290945.1:p.Tyr594Cys, XP_047290947.1:p.Tyr594Cys

                8.

                rs1485424715 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  16:1505477 (GRCh38)
                  16:1555478 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:1505476:C:A,NC_000016.10:1505476:C:G
                  Gene:
                  TELO2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  A=0.000004/1 (GnomAD_exomes)
                  G=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000016.10:g.1505477C>A, NC_000016.10:g.1505477C>G, NC_000016.9:g.1555478C>A, NC_000016.9:g.1555478C>G, NG_050910.1:g.17134C>A, NG_050910.1:g.17134C>G, NM_016111.4:c.1910C>A, NM_016111.4:c.1910C>G, NM_016111.3:c.1910C>A, NM_016111.3:c.1910C>G, NM_001351846.2:c.1910C>A, NM_001351846.2:c.1910C>G, NM_001351846.1:c.1910C>A, NM_001351846.1:c.1910C>G, XM_011522773.4:c.1910C>A, XM_011522773.4:c.1910C>G, XM_011522773.3:c.1910C>A, XM_011522773.3:c.1910C>G, XM_011522773.2:c.1910C>A, XM_011522773.2:c.1910C>G, XM_011522773.1:c.1910C>A, XM_011522773.1:c.1910C>G, XM_011522775.4:c.1910C>A, XM_011522775.4:c.1910C>G, XM_011522775.3:c.1910C>A, XM_011522775.3:c.1910C>G, XM_011522775.2:c.1910C>A, XM_011522775.2:c.1910C>G, XM_011522775.1:c.1910C>A, XM_011522775.1:c.1910C>G, XM_011522777.4:c.1910C>A, XM_011522777.4:c.1910C>G, XM_011522777.3:c.1910C>A, XM_011522777.3:c.1910C>G, XM_011522777.2:c.1910C>A, XM_011522777.2:c.1910C>G, XM_011522777.1:c.1910C>A, XM_011522777.1:c.1910C>G, XM_011522778.4:c.1910C>A, XM_011522778.4:c.1910C>G, XM_011522778.3:c.1910C>A, XM_011522778.3:c.1910C>G, XM_011522778.2:c.1910C>A, XM_011522778.2:c.1910C>G, XM_011522778.1:c.1910C>A, XM_011522778.1:c.1910C>G, XM_011522774.3:c.1910C>A, XM_011522774.3:c.1910C>G, XM_011522774.2:c.1910C>A, XM_011522774.2:c.1910C>G, XM_011522774.1:c.1910C>A, XM_011522774.1:c.1910C>G, XM_011522776.3:c.1910C>A, XM_011522776.3:c.1910C>G, XM_011522776.2:c.1910C>A, XM_011522776.2:c.1910C>G, XM_011522776.1:c.1910C>A, XM_011522776.1:c.1910C>G, XM_047434987.1:c.1910C>A, XM_047434987.1:c.1910C>G, XM_047434988.1:c.1910C>A, XM_047434988.1:c.1910C>G, XM_047434990.1:c.1910C>A, XM_047434990.1:c.1910C>G, XM_047434989.1:c.1910C>A, XM_047434989.1:c.1910C>G, XM_047434991.1:c.1910C>A, XM_047434991.1:c.1910C>G, NP_057195.2:p.Ser637Tyr, NP_057195.2:p.Ser637Cys, NP_001338775.1:p.Ser637Tyr, NP_001338775.1:p.Ser637Cys, XP_011521075.1:p.Ser637Tyr, XP_011521075.1:p.Ser637Cys, XP_011521077.1:p.Ser637Tyr, XP_011521077.1:p.Ser637Cys, XP_011521079.1:p.Ser637Tyr, XP_011521079.1:p.Ser637Cys, XP_011521080.1:p.Ser637Tyr, XP_011521080.1:p.Ser637Cys, XP_011521076.1:p.Ser637Tyr, XP_011521076.1:p.Ser637Cys, XP_011521078.1:p.Ser637Tyr, XP_011521078.1:p.Ser637Cys, XP_047290943.1:p.Ser637Tyr, XP_047290943.1:p.Ser637Cys, XP_047290944.1:p.Ser637Tyr, XP_047290944.1:p.Ser637Cys, XP_047290946.1:p.Ser637Tyr, XP_047290946.1:p.Ser637Cys, XP_047290945.1:p.Ser637Tyr, XP_047290945.1:p.Ser637Cys, XP_047290947.1:p.Ser637Tyr, XP_047290947.1:p.Ser637Cys

                  9.

                  rs1485093432 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:1497474 (GRCh38)
                    16:1547475 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:1497473:G:A
                    Gene:
                    TELO2 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000016.10:g.1497474G>A, NC_000016.9:g.1547475G>A, NG_050910.1:g.9131G>A, NM_016111.4:c.796G>A, NM_016111.3:c.796G>A, NM_001351846.2:c.796G>A, NM_001351846.1:c.796G>A, XM_011522773.4:c.796G>A, XM_011522773.3:c.796G>A, XM_011522773.2:c.796G>A, XM_011522773.1:c.796G>A, XM_011522775.4:c.796G>A, XM_011522775.3:c.796G>A, XM_011522775.2:c.796G>A, XM_011522775.1:c.796G>A, XM_011522777.4:c.796G>A, XM_011522777.3:c.796G>A, XM_011522777.2:c.796G>A, XM_011522777.1:c.796G>A, XM_011522778.4:c.796G>A, XM_011522778.3:c.796G>A, XM_011522778.2:c.796G>A, XM_011522778.1:c.796G>A, XM_011522774.3:c.796G>A, XM_011522774.2:c.796G>A, XM_011522774.1:c.796G>A, XM_011522776.3:c.796G>A, XM_011522776.2:c.796G>A, XM_011522776.1:c.796G>A, XM_047434987.1:c.796G>A, XM_047434988.1:c.796G>A, XM_047434990.1:c.796G>A, XM_047434989.1:c.796G>A, XM_047434991.1:c.796G>A, XM_047434992.1:c.796G>A, XM_047434993.1:c.796G>A, NP_057195.2:p.Ala266Thr, NP_001338775.1:p.Ala266Thr, XP_011521075.1:p.Ala266Thr, XP_011521077.1:p.Ala266Thr, XP_011521079.1:p.Ala266Thr, XP_011521080.1:p.Ala266Thr, XP_011521076.1:p.Ala266Thr, XP_011521078.1:p.Ala266Thr, XP_047290943.1:p.Ala266Thr, XP_047290944.1:p.Ala266Thr, XP_047290946.1:p.Ala266Thr, XP_047290945.1:p.Ala266Thr, XP_047290947.1:p.Ala266Thr, XP_047290948.1:p.Ala266Thr, XP_047290949.1:p.Ala266Thr

                    10.

                    rs1484791624 [Homo sapiens]
                      Variant type:
                      DELINS
                      Alleles:
                      ->C [Show Flanks]
                      Chromosome:
                      16:1497383 (GRCh38)
                      16:1547385 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:1497383:CCCC:CCCCC
                      Gene:
                      TELO2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      CCCCC=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000016.10:g.1497387dup, NC_000016.9:g.1547388dup, NG_050910.1:g.9044dup, NM_016111.4:c.709dup, NM_016111.3:c.709dup, NM_001351846.2:c.709dup, NM_001351846.1:c.709dup, XM_011522773.4:c.709dup, XM_011522773.3:c.709dup, XM_011522773.2:c.709dup, XM_011522773.1:c.709dup, XM_011522775.4:c.709dup, XM_011522775.3:c.709dup, XM_011522775.2:c.709dup, XM_011522775.1:c.709dup, XM_011522777.4:c.709dup, XM_011522777.3:c.709dup, XM_011522777.2:c.709dup, XM_011522777.1:c.709dup, XM_011522778.4:c.709dup, XM_011522778.3:c.709dup, XM_011522778.2:c.709dup, XM_011522778.1:c.709dup, XM_011522774.3:c.709dup, XM_011522774.2:c.709dup, XM_011522774.1:c.709dup, XM_011522776.3:c.709dup, XM_011522776.2:c.709dup, XM_011522776.1:c.709dup, XM_047434987.1:c.709dup, XM_047434988.1:c.709dup, XM_047434990.1:c.709dup, XM_047434989.1:c.709dup, XM_047434991.1:c.709dup, XM_047434992.1:c.709dup, XM_047434993.1:c.709dup, NP_057195.2:p.Arg237fs, NP_001338775.1:p.Arg237fs, XP_011521075.1:p.Arg237fs, XP_011521077.1:p.Arg237fs, XP_011521079.1:p.Arg237fs, XP_011521080.1:p.Arg237fs, XP_011521076.1:p.Arg237fs, XP_011521078.1:p.Arg237fs, XP_047290943.1:p.Arg237fs, XP_047290944.1:p.Arg237fs, XP_047290946.1:p.Arg237fs, XP_047290945.1:p.Arg237fs, XP_047290947.1:p.Arg237fs, XP_047290948.1:p.Arg237fs, XP_047290949.1:p.Arg237fs

                      11.

                      rs1484399554 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        TCT>- [Show Flanks]
                        Chromosome:
                        16:1494367 (GRCh38)
                        16:1544368 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:1494363:TCTTCT:TCT
                        Gene:
                        TELO2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,inframe_deletion
                        Validated:
                        by frequency
                        MAF:
                        -=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000016.10:g.1494364TCT[1], NC_000016.9:g.1544365TCT[1], NG_050910.1:g.6021TCT[1], NM_016111.4:c.83TCT[1], NM_016111.3:c.83TCT[1], NM_001351846.2:c.83TCT[1], NM_001351846.1:c.83TCT[1], XM_011522773.4:c.83TCT[1], XM_011522773.3:c.83TCT[1], XM_011522773.2:c.83TCT[1], XM_011522773.1:c.83TCT[1], XM_011522775.4:c.83TCT[1], XM_011522775.3:c.83TCT[1], XM_011522775.2:c.83TCT[1], XM_011522775.1:c.83TCT[1], XM_011522777.4:c.83TCT[1], XM_011522777.3:c.83TCT[1], XM_011522777.2:c.83TCT[1], XM_011522777.1:c.83TCT[1], XM_011522778.4:c.83TCT[1], XM_011522778.3:c.83TCT[1], XM_011522778.2:c.83TCT[1], XM_011522778.1:c.83TCT[1], XM_011522774.3:c.83TCT[1], XM_011522774.2:c.83TCT[1], XM_011522774.1:c.83TCT[1], XM_011522776.3:c.83TCT[1], XM_011522776.2:c.83TCT[1], XM_011522776.1:c.83TCT[1], XM_047434987.1:c.83TCT[1], XM_047434988.1:c.83TCT[1], XM_047434990.1:c.83TCT[1], XM_047434989.1:c.83TCT[1], XM_047434991.1:c.83TCT[1], XM_047434992.1:c.83TCT[1], XM_047434993.1:c.83TCT[1], NP_057195.2:p.Phe29del, NP_001338775.1:p.Phe29del, XP_011521075.1:p.Phe29del, XP_011521077.1:p.Phe29del, XP_011521079.1:p.Phe29del, XP_011521080.1:p.Phe29del, XP_011521076.1:p.Phe29del, XP_011521078.1:p.Phe29del, XP_047290943.1:p.Phe29del, XP_047290944.1:p.Phe29del, XP_047290946.1:p.Phe29del, XP_047290945.1:p.Phe29del, XP_047290947.1:p.Phe29del, XP_047290948.1:p.Phe29del, XP_047290949.1:p.Phe29del

                        12.

                        rs1484245449 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,T [Show Flanks]
                          Chromosome:
                          16:1495491 (GRCh38)
                          16:1545492 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:1495490:G:A,NC_000016.10:1495490:G:T
                          Gene:
                          TELO2 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          HGVS:
                          NC_000016.10:g.1495491G>A, NC_000016.10:g.1495491G>T, NC_000016.9:g.1545492G>A, NC_000016.9:g.1545492G>T, NG_050910.1:g.7148G>A, NG_050910.1:g.7148G>T, NM_016111.4:c.481G>A, NM_016111.4:c.481G>T, NM_016111.3:c.481G>A, NM_016111.3:c.481G>T, NM_001351846.2:c.481G>A, NM_001351846.2:c.481G>T, NM_001351846.1:c.481G>A, NM_001351846.1:c.481G>T, XM_011522773.4:c.481G>A, XM_011522773.4:c.481G>T, XM_011522773.3:c.481G>A, XM_011522773.3:c.481G>T, XM_011522773.2:c.481G>A, XM_011522773.2:c.481G>T, XM_011522773.1:c.481G>A, XM_011522773.1:c.481G>T, XM_011522775.4:c.481G>A, XM_011522775.4:c.481G>T, XM_011522775.3:c.481G>A, XM_011522775.3:c.481G>T, XM_011522775.2:c.481G>A, XM_011522775.2:c.481G>T, XM_011522775.1:c.481G>A, XM_011522775.1:c.481G>T, XM_011522777.4:c.481G>A, XM_011522777.4:c.481G>T, XM_011522777.3:c.481G>A, XM_011522777.3:c.481G>T, XM_011522777.2:c.481G>A, XM_011522777.2:c.481G>T, XM_011522777.1:c.481G>A, XM_011522777.1:c.481G>T, XM_011522778.4:c.481G>A, XM_011522778.4:c.481G>T, XM_011522778.3:c.481G>A, XM_011522778.3:c.481G>T, XM_011522778.2:c.481G>A, XM_011522778.2:c.481G>T, XM_011522778.1:c.481G>A, XM_011522778.1:c.481G>T, XM_011522774.3:c.481G>A, XM_011522774.3:c.481G>T, XM_011522774.2:c.481G>A, XM_011522774.2:c.481G>T, XM_011522774.1:c.481G>A, XM_011522774.1:c.481G>T, XM_011522776.3:c.481G>A, XM_011522776.3:c.481G>T, XM_011522776.2:c.481G>A, XM_011522776.2:c.481G>T, XM_011522776.1:c.481G>A, XM_011522776.1:c.481G>T, XM_047434987.1:c.481G>A, XM_047434987.1:c.481G>T, XM_047434988.1:c.481G>A, XM_047434988.1:c.481G>T, XM_047434990.1:c.481G>A, XM_047434990.1:c.481G>T, XM_047434989.1:c.481G>A, XM_047434989.1:c.481G>T, XM_047434991.1:c.481G>A, XM_047434991.1:c.481G>T, XM_047434992.1:c.481G>A, XM_047434992.1:c.481G>T, XM_047434993.1:c.481G>A, XM_047434993.1:c.481G>T, NP_057195.2:p.Val161Met, NP_057195.2:p.Val161Leu, NP_001338775.1:p.Val161Met, NP_001338775.1:p.Val161Leu, XP_011521075.1:p.Val161Met, XP_011521075.1:p.Val161Leu, XP_011521077.1:p.Val161Met, XP_011521077.1:p.Val161Leu, XP_011521079.1:p.Val161Met, XP_011521079.1:p.Val161Leu, XP_011521080.1:p.Val161Met, XP_011521080.1:p.Val161Leu, XP_011521076.1:p.Val161Met, XP_011521076.1:p.Val161Leu, XP_011521078.1:p.Val161Met, XP_011521078.1:p.Val161Leu, XP_047290943.1:p.Val161Met, XP_047290943.1:p.Val161Leu, XP_047290944.1:p.Val161Met, XP_047290944.1:p.Val161Leu, XP_047290946.1:p.Val161Met, XP_047290946.1:p.Val161Leu, XP_047290945.1:p.Val161Met, XP_047290945.1:p.Val161Leu, XP_047290947.1:p.Val161Met, XP_047290947.1:p.Val161Leu, XP_047290948.1:p.Val161Met, XP_047290948.1:p.Val161Leu, XP_047290949.1:p.Val161Met, XP_047290949.1:p.Val161Leu

                          13.

                          rs1483815114 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>A [Show Flanks]
                            Chromosome:
                            16:1507042 (GRCh38)
                            16:1557043 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:1507041:T:A
                            Gene:
                            TELO2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000004/1 (GnomAD_exomes)
                            HGVS:

                            14.

                            rs1483612698 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              16:1501718 (GRCh38)
                              16:1551719 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:1501717:G:A
                              Gene:
                              TELO2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_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)
                              A=0.000035/1 (TOMMO)
                              HGVS:
                              NC_000016.10:g.1501718G>A, NC_000016.9:g.1551719G>A, NG_050910.1:g.13375G>A, NM_016111.4:c.1417G>A, NM_016111.3:c.1417G>A, NM_001351846.2:c.1417G>A, NM_001351846.1:c.1417G>A, XM_011522773.4:c.1417G>A, XM_011522773.3:c.1417G>A, XM_011522773.2:c.1417G>A, XM_011522773.1:c.1417G>A, XM_011522775.4:c.1417G>A, XM_011522775.3:c.1417G>A, XM_011522775.2:c.1417G>A, XM_011522775.1:c.1417G>A, XM_011522777.4:c.1417G>A, XM_011522777.3:c.1417G>A, XM_011522777.2:c.1417G>A, XM_011522777.1:c.1417G>A, XM_011522778.4:c.1417G>A, XM_011522778.3:c.1417G>A, XM_011522778.2:c.1417G>A, XM_011522778.1:c.1417G>A, XM_011522774.3:c.1417G>A, XM_011522774.2:c.1417G>A, XM_011522774.1:c.1417G>A, XM_011522776.3:c.1417G>A, XM_011522776.2:c.1417G>A, XM_011522776.1:c.1417G>A, XM_047434987.1:c.1417G>A, XM_047434988.1:c.1417G>A, XM_047434990.1:c.1417G>A, XM_047434989.1:c.1417G>A, XM_047434991.1:c.1417G>A, XM_047434992.1:c.1400G>A, XM_047434993.1:c.1337G>A, NP_057195.2:p.Val473Met, NP_001338775.1:p.Val473Met, XP_011521075.1:p.Val473Met, XP_011521077.1:p.Val473Met, XP_011521079.1:p.Val473Met, XP_011521080.1:p.Val473Met, XP_011521076.1:p.Val473Met, XP_011521078.1:p.Val473Met, XP_047290943.1:p.Val473Met, XP_047290944.1:p.Val473Met, XP_047290946.1:p.Val473Met, XP_047290945.1:p.Val473Met, XP_047290947.1:p.Val473Met, XP_047290948.1:p.Arg467His, XP_047290949.1:p.Arg446His

                              15.

                              rs1483357369 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                16:1507364 (GRCh38)
                                16:1557365 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:1507363:T:G
                                Gene:
                                TELO2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000016.10:g.1507364T>G, NC_000016.9:g.1557365T>G, NG_050910.1:g.19021T>G, NM_016111.4:c.2285T>G, NM_016111.3:c.2285T>G, NM_001351846.2:c.2285T>G, NM_001351846.1:c.2285T>G, XM_011522773.4:c.2471T>G, XM_011522773.3:c.2471T>G, XM_011522773.2:c.2471T>G, XM_011522773.1:c.2471T>G, XM_011522775.4:c.2471T>G, XM_011522775.3:c.2471T>G, XM_011522775.2:c.2471T>G, XM_011522775.1:c.2471T>G, XM_011522774.3:c.2471T>G, XM_011522774.2:c.2471T>G, XM_011522774.1:c.2471T>G, XM_011522776.3:c.2471T>G, XM_011522776.2:c.2471T>G, XM_011522776.1:c.2471T>G, XM_047434987.1:c.2285T>G, XM_047434988.1:c.2285T>G, NP_057195.2:p.Ile762Ser, NP_001338775.1:p.Ile762Ser, XP_011521075.1:p.Ile824Ser, XP_011521077.1:p.Ile824Ser, XP_011521076.1:p.Ile824Ser, XP_011521078.1:p.Ile824Ser, XP_047290943.1:p.Ile762Ser, XP_047290944.1:p.Ile762Ser

                                16.

                                rs1482880187 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  16:1497371 (GRCh38)
                                  16:1547372 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:1497370:G:T
                                  Gene:
                                  TELO2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000016.10:g.1497371G>T, NC_000016.9:g.1547372G>T, NG_050910.1:g.9028G>T, NM_016111.4:c.693G>T, NM_016111.3:c.693G>T, NM_001351846.2:c.693G>T, NM_001351846.1:c.693G>T, XM_011522773.4:c.693G>T, XM_011522773.3:c.693G>T, XM_011522773.2:c.693G>T, XM_011522773.1:c.693G>T, XM_011522775.4:c.693G>T, XM_011522775.3:c.693G>T, XM_011522775.2:c.693G>T, XM_011522775.1:c.693G>T, XM_011522777.4:c.693G>T, XM_011522777.3:c.693G>T, XM_011522777.2:c.693G>T, XM_011522777.1:c.693G>T, XM_011522778.4:c.693G>T, XM_011522778.3:c.693G>T, XM_011522778.2:c.693G>T, XM_011522778.1:c.693G>T, XM_011522774.3:c.693G>T, XM_011522774.2:c.693G>T, XM_011522774.1:c.693G>T, XM_011522776.3:c.693G>T, XM_011522776.2:c.693G>T, XM_011522776.1:c.693G>T, XM_047434987.1:c.693G>T, XM_047434988.1:c.693G>T, XM_047434990.1:c.693G>T, XM_047434989.1:c.693G>T, XM_047434991.1:c.693G>T, XM_047434992.1:c.693G>T, XM_047434993.1:c.693G>T

                                  17.

                                  rs1482865513 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    16:1501691 (GRCh38)
                                    16:1551692 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:1501690:C:A,NC_000016.10:1501690:C:G,NC_000016.10:1501690:C:T
                                    Gene:
                                    TELO2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    G=0.00096/16 (TOMMO)
                                    HGVS:
                                    NC_000016.10:g.1501691C>A, NC_000016.10:g.1501691C>G, NC_000016.10:g.1501691C>T, NC_000016.9:g.1551692C>A, NC_000016.9:g.1551692C>G, NC_000016.9:g.1551692C>T, NG_050910.1:g.13348C>A, NG_050910.1:g.13348C>G, NG_050910.1:g.13348C>T, NM_016111.4:c.1390C>A, NM_016111.4:c.1390C>G, NM_016111.4:c.1390C>T, NM_016111.3:c.1390C>A, NM_016111.3:c.1390C>G, NM_016111.3:c.1390C>T, NM_001351846.2:c.1390C>A, NM_001351846.2:c.1390C>G, NM_001351846.2:c.1390C>T, NM_001351846.1:c.1390C>A, NM_001351846.1:c.1390C>G, NM_001351846.1:c.1390C>T, XM_011522773.4:c.1390C>A, XM_011522773.4:c.1390C>G, XM_011522773.4:c.1390C>T, XM_011522773.3:c.1390C>A, XM_011522773.3:c.1390C>G, XM_011522773.3:c.1390C>T, XM_011522773.2:c.1390C>A, XM_011522773.2:c.1390C>G, XM_011522773.2:c.1390C>T, XM_011522773.1:c.1390C>A, XM_011522773.1:c.1390C>G, XM_011522773.1:c.1390C>T, XM_011522775.4:c.1390C>A, XM_011522775.4:c.1390C>G, XM_011522775.4:c.1390C>T, XM_011522775.3:c.1390C>A, XM_011522775.3:c.1390C>G, XM_011522775.3:c.1390C>T, XM_011522775.2:c.1390C>A, XM_011522775.2:c.1390C>G, XM_011522775.2:c.1390C>T, XM_011522775.1:c.1390C>A, XM_011522775.1:c.1390C>G, XM_011522775.1:c.1390C>T, XM_011522777.4:c.1390C>A, XM_011522777.4:c.1390C>G, XM_011522777.4:c.1390C>T, XM_011522777.3:c.1390C>A, XM_011522777.3:c.1390C>G, XM_011522777.3:c.1390C>T, XM_011522777.2:c.1390C>A, XM_011522777.2:c.1390C>G, XM_011522777.2:c.1390C>T, XM_011522777.1:c.1390C>A, XM_011522777.1:c.1390C>G, XM_011522777.1:c.1390C>T, XM_011522778.4:c.1390C>A, XM_011522778.4:c.1390C>G, XM_011522778.4:c.1390C>T, XM_011522778.3:c.1390C>A, XM_011522778.3:c.1390C>G, XM_011522778.3:c.1390C>T, XM_011522778.2:c.1390C>A, XM_011522778.2:c.1390C>G, XM_011522778.2:c.1390C>T, XM_011522778.1:c.1390C>A, XM_011522778.1:c.1390C>G, XM_011522778.1:c.1390C>T, XM_011522774.3:c.1390C>A, XM_011522774.3:c.1390C>G, XM_011522774.3:c.1390C>T, XM_011522774.2:c.1390C>A, XM_011522774.2:c.1390C>G, XM_011522774.2:c.1390C>T, XM_011522774.1:c.1390C>A, XM_011522774.1:c.1390C>G, XM_011522774.1:c.1390C>T, XM_011522776.3:c.1390C>A, XM_011522776.3:c.1390C>G, XM_011522776.3:c.1390C>T, XM_011522776.2:c.1390C>A, XM_011522776.2:c.1390C>G, XM_011522776.2:c.1390C>T, XM_011522776.1:c.1390C>A, XM_011522776.1:c.1390C>G, XM_011522776.1:c.1390C>T, XM_047434987.1:c.1390C>A, XM_047434987.1:c.1390C>G, XM_047434987.1:c.1390C>T, XM_047434988.1:c.1390C>A, XM_047434988.1:c.1390C>G, XM_047434988.1:c.1390C>T, XM_047434990.1:c.1390C>A, XM_047434990.1:c.1390C>G, XM_047434990.1:c.1390C>T, XM_047434989.1:c.1390C>A, XM_047434989.1:c.1390C>G, XM_047434989.1:c.1390C>T, XM_047434991.1:c.1390C>A, XM_047434991.1:c.1390C>G, XM_047434991.1:c.1390C>T, XM_047434992.1:c.1373C>A, XM_047434992.1:c.1373C>G, XM_047434992.1:c.1373C>T, XM_047434993.1:c.1310C>A, XM_047434993.1:c.1310C>G, XM_047434993.1:c.1310C>T, NP_057195.2:p.Pro464Thr, NP_057195.2:p.Pro464Ala, NP_057195.2:p.Pro464Ser, NP_001338775.1:p.Pro464Thr, NP_001338775.1:p.Pro464Ala, NP_001338775.1:p.Pro464Ser, XP_011521075.1:p.Pro464Thr, XP_011521075.1:p.Pro464Ala, XP_011521075.1:p.Pro464Ser, XP_011521077.1:p.Pro464Thr, XP_011521077.1:p.Pro464Ala, XP_011521077.1:p.Pro464Ser, XP_011521079.1:p.Pro464Thr, XP_011521079.1:p.Pro464Ala, XP_011521079.1:p.Pro464Ser, XP_011521080.1:p.Pro464Thr, XP_011521080.1:p.Pro464Ala, XP_011521080.1:p.Pro464Ser, XP_011521076.1:p.Pro464Thr, XP_011521076.1:p.Pro464Ala, XP_011521076.1:p.Pro464Ser, XP_011521078.1:p.Pro464Thr, XP_011521078.1:p.Pro464Ala, XP_011521078.1:p.Pro464Ser, XP_047290943.1:p.Pro464Thr, XP_047290943.1:p.Pro464Ala, XP_047290943.1:p.Pro464Ser, XP_047290944.1:p.Pro464Thr, XP_047290944.1:p.Pro464Ala, XP_047290944.1:p.Pro464Ser, XP_047290946.1:p.Pro464Thr, XP_047290946.1:p.Pro464Ala, XP_047290946.1:p.Pro464Ser, XP_047290945.1:p.Pro464Thr, XP_047290945.1:p.Pro464Ala, XP_047290945.1:p.Pro464Ser, XP_047290947.1:p.Pro464Thr, XP_047290947.1:p.Pro464Ala, XP_047290947.1:p.Pro464Ser, XP_047290948.1:p.Ala458Asp, XP_047290948.1:p.Ala458Gly, XP_047290948.1:p.Ala458Val, XP_047290949.1:p.Ala437Asp, XP_047290949.1:p.Ala437Gly, XP_047290949.1:p.Ala437Val

                                    18.

                                    rs1482380891 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C,G [Show Flanks]
                                      Chromosome:
                                      16:1507672 (GRCh38)
                                      16:1557673 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:1507671:A:C,NC_000016.10:1507671:A:G
                                      Gene:
                                      TELO2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000016.10:g.1507672A>C, NC_000016.10:g.1507672A>G, NC_000016.9:g.1557673A>C, NC_000016.9:g.1557673A>G, NG_050910.1:g.19329A>C, NG_050910.1:g.19329A>G, NM_016111.4:c.2363A>C, NM_016111.4:c.2363A>G, NM_016111.3:c.2363A>C, NM_016111.3:c.2363A>G, NM_001351846.2:c.2363A>C, NM_001351846.2:c.2363A>G, NM_001351846.1:c.2363A>C, NM_001351846.1:c.2363A>G, XM_011522773.4:c.2549A>C, XM_011522773.4:c.2549A>G, XM_011522773.3:c.2549A>C, XM_011522773.3:c.2549A>G, XM_011522773.2:c.2549A>C, XM_011522773.2:c.2549A>G, XM_011522773.1:c.2549A>C, XM_011522773.1:c.2549A>G, XM_011522775.4:c.2549A>C, XM_011522775.4:c.2549A>G, XM_011522775.3:c.2549A>C, XM_011522775.3:c.2549A>G, XM_011522775.2:c.2549A>C, XM_011522775.2:c.2549A>G, XM_011522775.1:c.2549A>C, XM_011522775.1:c.2549A>G, XM_011522774.3:c.2549A>C, XM_011522774.3:c.2549A>G, XM_011522774.2:c.2549A>C, XM_011522774.2:c.2549A>G, XM_011522774.1:c.2549A>C, XM_011522774.1:c.2549A>G, XM_011522776.3:c.2549A>C, XM_011522776.3:c.2549A>G, XM_011522776.2:c.2549A>C, XM_011522776.2:c.2549A>G, XM_011522776.1:c.2549A>C, XM_011522776.1:c.2549A>G, XM_047434987.1:c.2363A>C, XM_047434987.1:c.2363A>G, XM_047434988.1:c.2363A>C, XM_047434988.1:c.2363A>G, NP_057195.2:p.Glu788Ala, NP_057195.2:p.Glu788Gly, NP_001338775.1:p.Glu788Ala, NP_001338775.1:p.Glu788Gly, XP_011521075.1:p.Glu850Ala, XP_011521075.1:p.Glu850Gly, XP_011521077.1:p.Glu850Ala, XP_011521077.1:p.Glu850Gly, XP_011521076.1:p.Glu850Ala, XP_011521076.1:p.Glu850Gly, XP_011521078.1:p.Glu850Ala, XP_011521078.1:p.Glu850Gly, XP_047290943.1:p.Glu788Ala, XP_047290943.1:p.Glu788Gly, XP_047290944.1:p.Glu788Ala, XP_047290944.1:p.Glu788Gly

                                      19.

                                      rs1481967741 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        16:1495419 (GRCh38)
                                        16:1545420 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:1495418:A:C
                                        Gene:
                                        TELO2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0.000047/1 (ALFA)
                                        C=0.000005/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000016.10:g.1495419A>C, NC_000016.9:g.1545420A>C, NG_050910.1:g.7076A>C, NM_016111.4:c.409A>C, NM_016111.3:c.409A>C, NM_001351846.2:c.409A>C, NM_001351846.1:c.409A>C, XM_011522773.4:c.409A>C, XM_011522773.3:c.409A>C, XM_011522773.2:c.409A>C, XM_011522773.1:c.409A>C, XM_011522775.4:c.409A>C, XM_011522775.3:c.409A>C, XM_011522775.2:c.409A>C, XM_011522775.1:c.409A>C, XM_011522777.4:c.409A>C, XM_011522777.3:c.409A>C, XM_011522777.2:c.409A>C, XM_011522777.1:c.409A>C, XM_011522778.4:c.409A>C, XM_011522778.3:c.409A>C, XM_011522778.2:c.409A>C, XM_011522778.1:c.409A>C, XM_011522774.3:c.409A>C, XM_011522774.2:c.409A>C, XM_011522774.1:c.409A>C, XM_011522776.3:c.409A>C, XM_011522776.2:c.409A>C, XM_011522776.1:c.409A>C, XM_047434987.1:c.409A>C, XM_047434988.1:c.409A>C, XM_047434990.1:c.409A>C, XM_047434989.1:c.409A>C, XM_047434991.1:c.409A>C, XM_047434992.1:c.409A>C, XM_047434993.1:c.409A>C, NP_057195.2:p.Met137Leu, NP_001338775.1:p.Met137Leu, XP_011521075.1:p.Met137Leu, XP_011521077.1:p.Met137Leu, XP_011521079.1:p.Met137Leu, XP_011521080.1:p.Met137Leu, XP_011521076.1:p.Met137Leu, XP_011521078.1:p.Met137Leu, XP_047290943.1:p.Met137Leu, XP_047290944.1:p.Met137Leu, XP_047290946.1:p.Met137Leu, XP_047290945.1:p.Met137Leu, XP_047290947.1:p.Met137Leu, XP_047290948.1:p.Met137Leu, XP_047290949.1:p.Met137Leu

                                        20.

                                        rs1481589844 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          16:1502719 (GRCh38)
                                          16:1552720 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:1502718:C:T
                                          Gene:
                                          TELO2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000142/2 (ALFA)
                                          T=0.000011/3 (TOPMED)
                                          T=0.000014/2 (GnomAD)
                                          HGVS:
                                          NC_000016.10:g.1502719C>T, NC_000016.9:g.1552720C>T, NG_050910.1:g.14376C>T, NM_016111.4:c.1728C>T, NM_016111.3:c.1728C>T, NM_001351846.2:c.1728C>T, NM_001351846.1:c.1728C>T, XM_011522773.4:c.1728C>T, XM_011522773.3:c.1728C>T, XM_011522773.2:c.1728C>T, XM_011522773.1:c.1728C>T, XM_011522775.4:c.1728C>T, XM_011522775.3:c.1728C>T, XM_011522775.2:c.1728C>T, XM_011522775.1:c.1728C>T, XM_011522777.4:c.1728C>T, XM_011522777.3:c.1728C>T, XM_011522777.2:c.1728C>T, XM_011522777.1:c.1728C>T, XM_011522778.4:c.1728C>T, XM_011522778.3:c.1728C>T, XM_011522778.2:c.1728C>T, XM_011522778.1:c.1728C>T, XM_011522774.3:c.1728C>T, XM_011522774.2:c.1728C>T, XM_011522774.1:c.1728C>T, XM_011522776.3:c.1728C>T, XM_011522776.2:c.1728C>T, XM_011522776.1:c.1728C>T, XM_047434987.1:c.1728C>T, XM_047434988.1:c.1728C>T, XM_047434990.1:c.1728C>T, XM_047434989.1:c.1728C>T, XM_047434991.1:c.1728C>T

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