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Items: 1 to 20 of 453

1.

rs1486093180 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    1:151778877 (GRCh38)
    1:151751353 (GRCh37)
    Canonical SPDI:
    NC_000001.11:151778876:C:T
    Gene:
    TDRKH (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0.000047/1 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.151778877C>T, NC_000001.10:g.151751353C>T, NM_006862.4:c.691G>A, NM_006862.3:c.691G>A, XM_017000123.3:c.691G>A, XM_017000123.2:c.691G>A, XM_017000123.1:c.691G>A, XM_017000122.3:c.691G>A, XM_017000122.2:c.691G>A, XM_017000122.1:c.691G>A, NM_001083965.2:c.691G>A, NM_001083965.1:c.691G>A, XM_017000124.2:c.691G>A, XM_017000124.1:c.691G>A, XM_017000125.2:c.691G>A, XM_017000125.1:c.691G>A, XM_017000126.2:c.691G>A, XM_017000126.1:c.691G>A, XM_017000127.2:c.691G>A, XM_017000127.1:c.691G>A, XM_017000128.2:c.19G>A, XM_017000128.1:c.19G>A, XM_047441989.1:c.691G>A, XM_047442008.1:c.691G>A, NM_001083963.1:c.691G>A, NM_001083964.1:c.556G>A, NP_006853.2:p.Ala231Thr, XP_016855612.1:p.Ala231Thr, XP_016855611.1:p.Ala231Thr, NP_001077434.1:p.Ala231Thr, XP_016855613.1:p.Ala231Thr, XP_016855614.1:p.Ala231Thr, XP_016855615.1:p.Ala231Thr, XP_016855616.1:p.Ala231Thr, XP_016855617.1:p.Ala7Thr, XP_047297945.1:p.Ala231Thr, XP_047297964.1:p.Ala231Thr, NP_001077432.1:p.Ala231Thr, NP_001077433.1:p.Ala186Thr

    2.

    rs1485580191 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G,T [Show Flanks]
      Chromosome:
      1:151781538 (GRCh38)
      1:151754014 (GRCh37)
      Canonical SPDI:
      NC_000001.11:151781537:C:G,NC_000001.11:151781537:C:T
      Gene:
      TDRKH (Varview)
      Functional Consequence:
      genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0.000031/1 (ALFA)
      T=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.151781538C>G, NC_000001.11:g.151781538C>T, NC_000001.10:g.151754014C>G, NC_000001.10:g.151754014C>T, NM_006862.4:c.174G>C, NM_006862.4:c.174G>A, NM_006862.3:c.174G>C, NM_006862.3:c.174G>A, XM_017000123.3:c.174G>C, XM_017000123.3:c.174G>A, XM_017000123.2:c.174G>C, XM_017000123.2:c.174G>A, XM_017000123.1:c.174G>C, XM_017000123.1:c.174G>A, XM_017000122.3:c.174G>C, XM_017000122.3:c.174G>A, XM_017000122.2:c.174G>C, XM_017000122.2:c.174G>A, XM_017000122.1:c.174G>C, XM_017000122.1:c.174G>A, NM_001083965.2:c.174G>C, NM_001083965.2:c.174G>A, NM_001083965.1:c.174G>C, NM_001083965.1:c.174G>A, XM_017000124.2:c.174G>C, XM_017000124.2:c.174G>A, XM_017000124.1:c.174G>C, XM_017000124.1:c.174G>A, XM_017000125.2:c.174G>C, XM_017000125.2:c.174G>A, XM_017000125.1:c.174G>C, XM_017000125.1:c.174G>A, XM_017000126.2:c.174G>C, XM_017000126.2:c.174G>A, XM_017000126.1:c.174G>C, XM_017000126.1:c.174G>A, XM_017000127.2:c.174G>C, XM_017000127.2:c.174G>A, XM_017000127.1:c.174G>C, XM_017000127.1:c.174G>A, XM_047441989.1:c.174G>C, XM_047441989.1:c.174G>A, XM_047442008.1:c.174G>C, XM_047442008.1:c.174G>A, NM_001083963.1:c.174G>C, NM_001083963.1:c.174G>A, NM_001083964.1:c.174G>C, NM_001083964.1:c.174G>A

      3.

      rs1483005970 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:151775526 (GRCh38)
        1:151748002 (GRCh37)
        Canonical SPDI:
        NC_000001.11:151775525:C:T
        Gene:
        TDRKH (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.151775526C>T, NC_000001.10:g.151748002C>T, NM_006862.4:c.1300G>A, NM_006862.3:c.1300G>A, XM_017000123.3:c.1300G>A, XM_017000123.2:c.1300G>A, XM_017000123.1:c.1300G>A, XM_017000122.3:c.1300G>A, XM_017000122.2:c.1300G>A, XM_017000122.1:c.1300G>A, NM_001083965.2:c.1300G>A, NM_001083965.1:c.1300G>A, XM_017000124.2:c.1300G>A, XM_017000124.1:c.1300G>A, XM_017000125.2:c.1300G>A, XM_017000125.1:c.1300G>A, XM_017000126.2:c.1300G>A, XM_017000126.1:c.1300G>A, XM_017000127.2:c.1300G>A, XM_017000127.1:c.1300G>A, XM_017000128.2:c.628G>A, XM_017000128.1:c.628G>A, XM_047441989.1:c.1300G>A, XM_047442008.1:c.1300G>A, NM_001083963.1:c.1300G>A, NM_001083964.1:c.1165G>A, NP_006853.2:p.Glu434Lys, XP_016855612.1:p.Glu434Lys, XP_016855611.1:p.Glu434Lys, NP_001077434.1:p.Glu434Lys, XP_016855613.1:p.Glu434Lys, XP_016855614.1:p.Glu434Lys, XP_016855615.1:p.Glu434Lys, XP_016855616.1:p.Glu434Lys, XP_016855617.1:p.Glu210Lys, XP_047297945.1:p.Glu434Lys, XP_047297964.1:p.Glu434Lys, NP_001077432.1:p.Glu434Lys, NP_001077433.1:p.Glu389Lys

        4.

        rs1482814756 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>T [Show Flanks]
          Chromosome:
          1:151774773 (GRCh38)
          1:151747249 (GRCh37)
          Canonical SPDI:
          NC_000001.11:151774772:G:T
          Gene:
          TDRKH (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000001.11:g.151774773G>T, NC_000001.10:g.151747249G>T, NM_006862.4:c.1570C>A, NM_006862.3:c.1570C>A, XM_017000123.3:c.1570C>A, XM_017000123.2:c.1570C>A, XM_017000123.1:c.1570C>A, XM_017000122.3:c.1570C>A, XM_017000122.2:c.1570C>A, XM_017000122.1:c.1570C>A, NM_001083965.2:c.1570C>A, NM_001083965.1:c.1570C>A, XM_017000124.2:c.1570C>A, XM_017000124.1:c.1570C>A, XM_017000125.2:c.1570C>A, XM_017000125.1:c.1570C>A, XM_017000126.2:c.1570C>A, XM_017000126.1:c.1570C>A, XM_017000127.2:c.1570C>A, XM_017000127.1:c.1570C>A, XM_017000128.2:c.898C>A, XM_017000128.1:c.898C>A, XM_047441989.1:c.1570C>A, XM_047442008.1:c.1570C>A, NM_001083963.1:c.1570C>A, NM_001083964.1:c.1435C>A, NP_006853.2:p.Leu524Ile, XP_016855612.1:p.Leu524Ile, XP_016855611.1:p.Leu524Ile, NP_001077434.1:p.Leu524Ile, XP_016855613.1:p.Leu524Ile, XP_016855614.1:p.Leu524Ile, XP_016855615.1:p.Leu524Ile, XP_016855616.1:p.Leu524Ile, XP_016855617.1:p.Leu300Ile, XP_047297945.1:p.Leu524Ile, XP_047297964.1:p.Leu524Ile, NP_001077432.1:p.Leu524Ile, NP_001077433.1:p.Leu479Ile

          5.

          rs1482220652 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:151781560 (GRCh38)
            1:151754036 (GRCh37)
            Canonical SPDI:
            NC_000001.11:151781559:T:C
            Gene:
            TDRKH (Varview)
            Functional Consequence:
            genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.000071/1 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000001.11:g.151781560T>C, NC_000001.10:g.151754036T>C, NM_006862.4:c.152A>G, NM_006862.3:c.152A>G, XM_017000123.3:c.152A>G, XM_017000123.2:c.152A>G, XM_017000123.1:c.152A>G, XM_017000122.3:c.152A>G, XM_017000122.2:c.152A>G, XM_017000122.1:c.152A>G, NM_001083965.2:c.152A>G, NM_001083965.1:c.152A>G, XM_017000124.2:c.152A>G, XM_017000124.1:c.152A>G, XM_017000125.2:c.152A>G, XM_017000125.1:c.152A>G, XM_017000126.2:c.152A>G, XM_017000126.1:c.152A>G, XM_017000127.2:c.152A>G, XM_017000127.1:c.152A>G, XM_047441989.1:c.152A>G, XM_047442008.1:c.152A>G, NM_001083963.1:c.152A>G, NM_001083964.1:c.152A>G, NP_006853.2:p.Asp51Gly, XP_016855612.1:p.Asp51Gly, XP_016855611.1:p.Asp51Gly, NP_001077434.1:p.Asp51Gly, XP_016855613.1:p.Asp51Gly, XP_016855614.1:p.Asp51Gly, XP_016855615.1:p.Asp51Gly, XP_016855616.1:p.Asp51Gly, XP_047297945.1:p.Asp51Gly, XP_047297964.1:p.Asp51Gly, NP_001077432.1:p.Asp51Gly, NP_001077433.1:p.Asp51Gly

            6.

            rs1479427032 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:151776489 (GRCh38)
              1:151748965 (GRCh37)
              Canonical SPDI:
              NC_000001.11:151776488:G:A
              Gene:
              TDRKH (Varview)
              Functional Consequence:
              stop_gained,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.151776489G>A, NC_000001.10:g.151748965G>A, NM_006862.4:c.994C>T, NM_006862.3:c.994C>T, XM_017000123.3:c.994C>T, XM_017000123.2:c.994C>T, XM_017000123.1:c.994C>T, XM_017000122.3:c.994C>T, XM_017000122.2:c.994C>T, XM_017000122.1:c.994C>T, NM_001083965.2:c.994C>T, NM_001083965.1:c.994C>T, XM_017000124.2:c.994C>T, XM_017000124.1:c.994C>T, XM_017000125.2:c.994C>T, XM_017000125.1:c.994C>T, XM_017000126.2:c.994C>T, XM_017000126.1:c.994C>T, XM_017000127.2:c.994C>T, XM_017000127.1:c.994C>T, XM_017000128.2:c.322C>T, XM_017000128.1:c.322C>T, XM_047441989.1:c.994C>T, XM_047442008.1:c.994C>T, NM_001083963.1:c.994C>T, NM_001083964.1:c.859C>T, NP_006853.2:p.Gln332Ter, XP_016855612.1:p.Gln332Ter, XP_016855611.1:p.Gln332Ter, NP_001077434.1:p.Gln332Ter, XP_016855613.1:p.Gln332Ter, XP_016855614.1:p.Gln332Ter, XP_016855615.1:p.Gln332Ter, XP_016855616.1:p.Gln332Ter, XP_016855617.1:p.Gln108Ter, XP_047297945.1:p.Gln332Ter, XP_047297964.1:p.Gln332Ter, NP_001077432.1:p.Gln332Ter, NP_001077433.1:p.Gln287Ter

              7.

              rs1477253477 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>T [Show Flanks]
                Chromosome:
                1:151776177 (GRCh38)
                1:151748653 (GRCh37)
                Canonical SPDI:
                NC_000001.11:151776176:A:T
                Gene:
                TDRKH (Varview)
                Functional Consequence:
                stop_gained,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.151776177A>T, NC_000001.10:g.151748653A>T, NM_006862.4:c.1136T>A, NM_006862.3:c.1136T>A, XM_017000123.3:c.1136T>A, XM_017000123.2:c.1136T>A, XM_017000123.1:c.1136T>A, XM_017000122.3:c.1136T>A, XM_017000122.2:c.1136T>A, XM_017000122.1:c.1136T>A, NM_001083965.2:c.1136T>A, NM_001083965.1:c.1136T>A, XM_017000124.2:c.1136T>A, XM_017000124.1:c.1136T>A, XM_017000125.2:c.1136T>A, XM_017000125.1:c.1136T>A, XM_017000126.2:c.1136T>A, XM_017000126.1:c.1136T>A, XM_017000127.2:c.1136T>A, XM_017000127.1:c.1136T>A, XM_017000128.2:c.464T>A, XM_017000128.1:c.464T>A, XM_047441989.1:c.1136T>A, XM_047442008.1:c.1136T>A, NM_001083963.1:c.1136T>A, NM_001083964.1:c.1001T>A, NP_006853.2:p.Leu379Ter, XP_016855612.1:p.Leu379Ter, XP_016855611.1:p.Leu379Ter, NP_001077434.1:p.Leu379Ter, XP_016855613.1:p.Leu379Ter, XP_016855614.1:p.Leu379Ter, XP_016855615.1:p.Leu379Ter, XP_016855616.1:p.Leu379Ter, XP_016855617.1:p.Leu155Ter, XP_047297945.1:p.Leu379Ter, XP_047297964.1:p.Leu379Ter, NP_001077432.1:p.Leu379Ter, NP_001077433.1:p.Leu334Ter

                8.

                rs1476055467 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  1:151779110 (GRCh38)
                  1:151751586 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:151779109:G:A
                  Gene:
                  TDRKH (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,5_prime_UTR_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.151779110G>A, NC_000001.10:g.151751586G>A, NM_006862.4:c.554C>T, NM_006862.3:c.554C>T, XM_017000123.3:c.554C>T, XM_017000123.2:c.554C>T, XM_017000123.1:c.554C>T, XM_017000122.3:c.554C>T, XM_017000122.2:c.554C>T, XM_017000122.1:c.554C>T, NM_001083965.2:c.554C>T, NM_001083965.1:c.554C>T, XM_017000124.2:c.554C>T, XM_017000124.1:c.554C>T, XM_017000125.2:c.554C>T, XM_017000125.1:c.554C>T, XM_017000126.2:c.554C>T, XM_017000126.1:c.554C>T, XM_017000127.2:c.554C>T, XM_017000127.1:c.554C>T, XM_017000128.2:c.-119C>T, XM_017000128.1:c.-119C>T, XM_047441989.1:c.554C>T, XM_047442008.1:c.554C>T, NM_001083963.1:c.554C>T, NM_001083964.1:c.419C>T, NP_006853.2:p.Ala185Val, XP_016855612.1:p.Ala185Val, XP_016855611.1:p.Ala185Val, NP_001077434.1:p.Ala185Val, XP_016855613.1:p.Ala185Val, XP_016855614.1:p.Ala185Val, XP_016855615.1:p.Ala185Val, XP_016855616.1:p.Ala185Val, XP_047297945.1:p.Ala185Val, XP_047297964.1:p.Ala185Val, NP_001077432.1:p.Ala185Val, NP_001077433.1:p.Ala140Val

                  9.

                  rs1475544104 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:151776175 (GRCh38)
                    1:151748651 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:151776174:C:T
                    Gene:
                    TDRKH (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.151776175C>T, NC_000001.10:g.151748651C>T, NM_006862.4:c.1138G>A, NM_006862.3:c.1138G>A, XM_017000123.3:c.1138G>A, XM_017000123.2:c.1138G>A, XM_017000123.1:c.1138G>A, XM_017000122.3:c.1138G>A, XM_017000122.2:c.1138G>A, XM_017000122.1:c.1138G>A, NM_001083965.2:c.1138G>A, NM_001083965.1:c.1138G>A, XM_017000124.2:c.1138G>A, XM_017000124.1:c.1138G>A, XM_017000125.2:c.1138G>A, XM_017000125.1:c.1138G>A, XM_017000126.2:c.1138G>A, XM_017000126.1:c.1138G>A, XM_017000127.2:c.1138G>A, XM_017000127.1:c.1138G>A, XM_017000128.2:c.466G>A, XM_017000128.1:c.466G>A, XM_047441989.1:c.1138G>A, XM_047442008.1:c.1138G>A, NM_001083963.1:c.1138G>A, NM_001083964.1:c.1003G>A, NP_006853.2:p.Glu380Lys, XP_016855612.1:p.Glu380Lys, XP_016855611.1:p.Glu380Lys, NP_001077434.1:p.Glu380Lys, XP_016855613.1:p.Glu380Lys, XP_016855614.1:p.Glu380Lys, XP_016855615.1:p.Glu380Lys, XP_016855616.1:p.Glu380Lys, XP_016855617.1:p.Glu156Lys, XP_047297945.1:p.Glu380Lys, XP_047297964.1:p.Glu380Lys, NP_001077432.1:p.Glu380Lys, NP_001077433.1:p.Glu335Lys

                    10.

                    rs1474841348 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A [Show Flanks]
                      Chromosome:
                      1:151782958 (GRCh38)
                      1:151755434 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:151782957:C:A
                      Gene:
                      TDRKH (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      A=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.151782958C>A, NC_000001.10:g.151755434C>A, NM_006862.4:c.65G>T, NM_006862.3:c.65G>T, XM_017000123.3:c.65G>T, XM_017000123.2:c.65G>T, XM_017000123.1:c.65G>T, XM_017000122.3:c.65G>T, XM_017000122.2:c.65G>T, XM_017000122.1:c.65G>T, NM_001083965.2:c.65G>T, NM_001083965.1:c.65G>T, XM_017000124.2:c.65G>T, XM_017000124.1:c.65G>T, XM_017000125.2:c.65G>T, XM_017000125.1:c.65G>T, XM_017000126.2:c.65G>T, XM_017000126.1:c.65G>T, XM_017000127.2:c.65G>T, XM_017000127.1:c.65G>T, XM_047441989.1:c.65G>T, XM_047442008.1:c.65G>T, NM_001083963.1:c.65G>T, NM_001083964.1:c.65G>T, NP_006853.2:p.Gly22Val, XP_016855612.1:p.Gly22Val, XP_016855611.1:p.Gly22Val, NP_001077434.1:p.Gly22Val, XP_016855613.1:p.Gly22Val, XP_016855614.1:p.Gly22Val, XP_016855615.1:p.Gly22Val, XP_016855616.1:p.Gly22Val, XP_047297945.1:p.Gly22Val, XP_047297964.1:p.Gly22Val, NP_001077432.1:p.Gly22Val, NP_001077433.1:p.Gly22Val

                      11.

                      rs1472644365 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:151775435 (GRCh38)
                        1:151747911 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:151775434:G:A
                        Gene:
                        TDRKH (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0.000594/9 (ALFA)
                        A=0.00005/7 (GnomAD)
                        A=0.001786/8 (Estonian)
                        HGVS:
                        NC_000001.11:g.151775435G>A, NC_000001.10:g.151747911G>A, NM_006862.4:c.1391C>T, NM_006862.3:c.1391C>T, XM_017000123.3:c.1391C>T, XM_017000123.2:c.1391C>T, XM_017000123.1:c.1391C>T, XM_017000122.3:c.1391C>T, XM_017000122.2:c.1391C>T, XM_017000122.1:c.1391C>T, NM_001083965.2:c.1391C>T, NM_001083965.1:c.1391C>T, XM_017000124.2:c.1391C>T, XM_017000124.1:c.1391C>T, XM_017000125.2:c.1391C>T, XM_017000125.1:c.1391C>T, XM_017000126.2:c.1391C>T, XM_017000126.1:c.1391C>T, XM_017000127.2:c.1391C>T, XM_017000127.1:c.1391C>T, XM_017000128.2:c.719C>T, XM_017000128.1:c.719C>T, XM_047441989.1:c.1391C>T, XM_047442008.1:c.1391C>T, NM_001083963.1:c.1391C>T, NM_001083964.1:c.1256C>T, NP_006853.2:p.Ser464Leu, XP_016855612.1:p.Ser464Leu, XP_016855611.1:p.Ser464Leu, NP_001077434.1:p.Ser464Leu, XP_016855613.1:p.Ser464Leu, XP_016855614.1:p.Ser464Leu, XP_016855615.1:p.Ser464Leu, XP_016855616.1:p.Ser464Leu, XP_016855617.1:p.Ser240Leu, XP_047297945.1:p.Ser464Leu, XP_047297964.1:p.Ser464Leu, NP_001077432.1:p.Ser464Leu, NP_001077433.1:p.Ser419Leu

                        12.

                        rs1466163746 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>C [Show Flanks]
                          Chromosome:
                          1:151775437 (GRCh38)
                          1:151747913 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:151775436:G:C
                          Gene:
                          TDRKH (Varview)
                          Functional Consequence:
                          missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.000047/1 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000001.11:g.151775437G>C, NC_000001.10:g.151747913G>C, NM_006862.4:c.1389C>G, NM_006862.3:c.1389C>G, XM_017000123.3:c.1389C>G, XM_017000123.2:c.1389C>G, XM_017000123.1:c.1389C>G, XM_017000122.3:c.1389C>G, XM_017000122.2:c.1389C>G, XM_017000122.1:c.1389C>G, NM_001083965.2:c.1389C>G, NM_001083965.1:c.1389C>G, XM_017000124.2:c.1389C>G, XM_017000124.1:c.1389C>G, XM_017000125.2:c.1389C>G, XM_017000125.1:c.1389C>G, XM_017000126.2:c.1389C>G, XM_017000126.1:c.1389C>G, XM_017000127.2:c.1389C>G, XM_017000127.1:c.1389C>G, XM_017000128.2:c.717C>G, XM_017000128.1:c.717C>G, XM_047441989.1:c.1389C>G, XM_047442008.1:c.1389C>G, NM_001083963.1:c.1389C>G, NM_001083964.1:c.1254C>G, NP_006853.2:p.Ile463Met, XP_016855612.1:p.Ile463Met, XP_016855611.1:p.Ile463Met, NP_001077434.1:p.Ile463Met, XP_016855613.1:p.Ile463Met, XP_016855614.1:p.Ile463Met, XP_016855615.1:p.Ile463Met, XP_016855616.1:p.Ile463Met, XP_016855617.1:p.Ile239Met, XP_047297945.1:p.Ile463Met, XP_047297964.1:p.Ile463Met, NP_001077432.1:p.Ile463Met, NP_001077433.1:p.Ile418Met

                          13.

                          rs1462331824 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            ->CC [Show Flanks]
                            Chromosome:
                            1:151775471 (GRCh38)
                            1:151747948 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:151775471:CC:CCCC
                            Gene:
                            TDRKH (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant
                            Validated:
                            by frequency
                            MAF:
                            CC=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.151775472_151775473dup, NC_000001.10:g.151747948_151747949dup, NM_006862.4:c.1353_1354dup, NM_006862.3:c.1353_1354dup, XM_017000123.3:c.1353_1354dup, XM_017000123.2:c.1353_1354dup, XM_017000123.1:c.1353_1354dup, XM_017000122.3:c.1353_1354dup, XM_017000122.2:c.1353_1354dup, XM_017000122.1:c.1353_1354dup, NM_001083965.2:c.1353_1354dup, NM_001083965.1:c.1353_1354dup, XM_017000124.2:c.1353_1354dup, XM_017000124.1:c.1353_1354dup, XM_017000125.2:c.1353_1354dup, XM_017000125.1:c.1353_1354dup, XM_017000126.2:c.1353_1354dup, XM_017000126.1:c.1353_1354dup, XM_017000127.2:c.1353_1354dup, XM_017000127.1:c.1353_1354dup, XM_017000128.2:c.681_682dup, XM_017000128.1:c.681_682dup, XM_047441989.1:c.1353_1354dup, XM_047442008.1:c.1353_1354dup, NM_001083963.1:c.1353_1354dup, NM_001083964.1:c.1218_1219dup, NP_006853.2:p.Val452fs, XP_016855612.1:p.Val452fs, XP_016855611.1:p.Val452fs, NP_001077434.1:p.Val452fs, XP_016855613.1:p.Val452fs, XP_016855614.1:p.Val452fs, XP_016855615.1:p.Val452fs, XP_016855616.1:p.Val452fs, XP_016855617.1:p.Val228fs, XP_047297945.1:p.Val452fs, XP_047297964.1:p.Val452fs, NP_001077432.1:p.Val452fs, NP_001077433.1:p.Val407fs

                            14.

                            rs1460830570 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              1:151780125 (GRCh38)
                              1:151752601 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:151780124:C:T
                              Gene:
                              TDRKH (Varview)
                              Functional Consequence:
                              genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.151780125C>T, NC_000001.10:g.151752601C>T, NM_006862.4:c.247G>A, NM_006862.3:c.247G>A, XM_017000123.3:c.247G>A, XM_017000123.2:c.247G>A, XM_017000123.1:c.247G>A, XM_017000122.3:c.247G>A, XM_017000122.2:c.247G>A, XM_017000122.1:c.247G>A, NM_001083965.2:c.247G>A, NM_001083965.1:c.247G>A, XM_017000124.2:c.247G>A, XM_017000124.1:c.247G>A, XM_017000125.2:c.247G>A, XM_017000125.1:c.247G>A, XM_017000126.2:c.247G>A, XM_017000126.1:c.247G>A, XM_017000127.2:c.247G>A, XM_017000127.1:c.247G>A, XM_047441989.1:c.247G>A, XM_047442008.1:c.247G>A, NM_001083963.1:c.247G>A, NM_001083964.1:c.247G>A, NP_006853.2:p.Gly83Ser, XP_016855612.1:p.Gly83Ser, XP_016855611.1:p.Gly83Ser, NP_001077434.1:p.Gly83Ser, XP_016855613.1:p.Gly83Ser, XP_016855614.1:p.Gly83Ser, XP_016855615.1:p.Gly83Ser, XP_016855616.1:p.Gly83Ser, XP_047297945.1:p.Gly83Ser, XP_047297964.1:p.Gly83Ser, NP_001077432.1:p.Gly83Ser, NP_001077433.1:p.Gly83Ser

                              15.

                              rs1459863951 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:151776263 (GRCh38)
                                1:151748739 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:151776262:T:C
                                Gene:
                                TDRKH (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                HGVS:

                                16.

                                rs1457079944 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  1:151782992 (GRCh38)
                                  1:151755468 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:151782991:G:C
                                  Gene:
                                  TDRKH (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.151782992G>C, NC_000001.10:g.151755468G>C, NM_006862.4:c.31C>G, NM_006862.3:c.31C>G, XM_017000123.3:c.31C>G, XM_017000123.2:c.31C>G, XM_017000123.1:c.31C>G, XM_017000122.3:c.31C>G, XM_017000122.2:c.31C>G, XM_017000122.1:c.31C>G, NM_001083965.2:c.31C>G, NM_001083965.1:c.31C>G, XM_017000124.2:c.31C>G, XM_017000124.1:c.31C>G, XM_017000125.2:c.31C>G, XM_017000125.1:c.31C>G, XM_017000126.2:c.31C>G, XM_017000126.1:c.31C>G, XM_017000127.2:c.31C>G, XM_017000127.1:c.31C>G, XM_047441989.1:c.31C>G, XM_047442008.1:c.31C>G, NM_001083963.1:c.31C>G, NM_001083964.1:c.31C>G, NP_006853.2:p.Leu11Val, XP_016855612.1:p.Leu11Val, XP_016855611.1:p.Leu11Val, NP_001077434.1:p.Leu11Val, XP_016855613.1:p.Leu11Val, XP_016855614.1:p.Leu11Val, XP_016855615.1:p.Leu11Val, XP_016855616.1:p.Leu11Val, XP_047297945.1:p.Leu11Val, XP_047297964.1:p.Leu11Val, NP_001077432.1:p.Leu11Val, NP_001077433.1:p.Leu11Val

                                  17.

                                  rs1454939078 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    1:151778725 (GRCh38)
                                    1:151751201 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:151778724:C:A,NC_000001.11:151778724:C:T
                                    Gene:
                                    TDRKH (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000008/2 (TOPMED)
                                    T=0.000342/1 (KOREAN)
                                    HGVS:
                                    NC_000001.11:g.151778725C>A, NC_000001.11:g.151778725C>T, NC_000001.10:g.151751201C>A, NC_000001.10:g.151751201C>T, NG_009501.3:g.6G>T, NG_009501.3:g.6G>A, NM_006862.4:c.843G>T, NM_006862.4:c.843G>A, NM_006862.3:c.843G>T, NM_006862.3:c.843G>A, XM_017000123.3:c.843G>T, XM_017000123.3:c.843G>A, XM_017000123.2:c.843G>T, XM_017000123.2:c.843G>A, XM_017000123.1:c.843G>T, XM_017000123.1:c.843G>A, XM_017000122.3:c.843G>T, XM_017000122.3:c.843G>A, XM_017000122.2:c.843G>T, XM_017000122.2:c.843G>A, XM_017000122.1:c.843G>T, XM_017000122.1:c.843G>A, NM_001083965.2:c.843G>T, NM_001083965.2:c.843G>A, NM_001083965.1:c.843G>T, NM_001083965.1:c.843G>A, XM_017000124.2:c.843G>T, XM_017000124.2:c.843G>A, XM_017000124.1:c.843G>T, XM_017000124.1:c.843G>A, XM_017000125.2:c.843G>T, XM_017000125.2:c.843G>A, XM_017000125.1:c.843G>T, XM_017000125.1:c.843G>A, XM_017000126.2:c.843G>T, XM_017000126.2:c.843G>A, XM_017000126.1:c.843G>T, XM_017000126.1:c.843G>A, XM_017000127.2:c.843G>T, XM_017000127.2:c.843G>A, XM_017000127.1:c.843G>T, XM_017000127.1:c.843G>A, XM_017000128.2:c.171G>T, XM_017000128.2:c.171G>A, XM_017000128.1:c.171G>T, XM_017000128.1:c.171G>A, XM_047441989.1:c.843G>T, XM_047441989.1:c.843G>A, XM_047442008.1:c.843G>T, XM_047442008.1:c.843G>A, NM_001083963.1:c.843G>T, NM_001083963.1:c.843G>A, NM_001083964.1:c.708G>T, NM_001083964.1:c.708G>A, NP_006853.2:p.Lys281Asn, XP_016855612.1:p.Lys281Asn, XP_016855611.1:p.Lys281Asn, NP_001077434.1:p.Lys281Asn, XP_016855613.1:p.Lys281Asn, XP_016855614.1:p.Lys281Asn, XP_016855615.1:p.Lys281Asn, XP_016855616.1:p.Lys281Asn, XP_016855617.1:p.Lys57Asn, XP_047297945.1:p.Lys281Asn, XP_047297964.1:p.Lys281Asn, NP_001077432.1:p.Lys281Asn, NP_001077433.1:p.Lys236Asn

                                    18.

                                    rs1450050276 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>C [Show Flanks]
                                      Chromosome:
                                      1:151774726 (GRCh38)
                                      1:151747202 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:151774725:G:C
                                      Gene:
                                      TDRKH (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:

                                      19.

                                      rs1447141748 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        1:151776242 (GRCh38)
                                        1:151748718 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:151776241:T:A
                                        Gene:
                                        TDRKH (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:

                                        20.

                                        rs1442083634 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:151775392 (GRCh38)
                                          1:151747868 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:151775391:C:T
                                          Gene:
                                          TDRKH (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:

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