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Items: 1 to 20 of 253

1.

rs1486757846 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>G [Show Flanks]
    Chromosome:
    8:124508688 (GRCh38)
    8:125520929 (GRCh37)
    Canonical SPDI:
    NC_000008.11:124508687:T:G
    Gene:
    TATDN1 (Varview), MIR6844 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,2KB_upstream_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    HGVS:
    NC_000008.11:g.124508688T>G, NC_000008.10:g.125520929T>G, NW_025791784.1:g.43638T>G, XM_006716666.5:c.342A>C, XM_006716666.4:c.342A>C, XM_006716666.3:c.342A>C, XM_006716666.2:c.342A>C, XM_006716666.1:c.342A>C, XM_006716669.4:c.291A>C, XM_006716669.3:c.291A>C, XM_006716669.2:c.291A>C, XM_006716669.1:c.291A>C, XM_011517331.4:c.324A>C, XM_011517331.3:c.324A>C, XM_011517331.2:c.324A>C, XM_011517331.1:c.324A>C, NM_032026.4:c.390A>C, NM_032026.3:c.390A>C, XM_017013895.3:c.342A>C, XM_017013895.2:c.342A>C, XM_017013895.1:c.342A>C, XM_017013897.3:c.291A>C, XM_017013897.2:c.291A>C, XM_017013897.1:c.291A>C, XM_017013899.2:c.390A>C, XM_017013899.1:c.390A>C, NR_027427.1:n.432A>C, NM_001317889.1:c.390A>C, XM_047422301.1:c.249A>C, XM_047422300.1:c.291A>C, NM_001317890.1:c.228A>C, NM_001146160.1:c.249A>C, XM_047422302.1:c.249A>C, XR_007060757.1:n.526A>C, NM_001317891.1:c.-46A>C, XR_007060756.1:n.432A>C, XM_024447293.2:c.324A>C, XM_024447293.1:c.324A>C, XP_006716729.1:p.Lys114Asn, XP_006716732.1:p.Lys97Asn, XP_011515633.1:p.Lys108Asn, NP_114415.1:p.Lys130Asn, XP_016869384.1:p.Lys114Asn, XP_016869386.1:p.Lys97Asn, XP_016869388.1:p.Lys130Asn, NP_001304818.1:p.Lys130Asn, XP_047278257.1:p.Lys83Asn, XP_047278256.1:p.Lys97Asn, NP_001304819.1:p.Lys76Asn, NP_001139632.1:p.Lys83Asn, XP_047278258.1:p.Lys83Asn, XP_024303061.1:p.Lys108Asn

    2.

    rs1484202538 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C,G [Show Flanks]
      Chromosome:
      8:124515906 (GRCh38)
      8:125528147 (GRCh37)
      Canonical SPDI:
      NC_000008.11:124515905:T:C,NC_000008.11:124515905:T:G
      Gene:
      TATDN1 (Varview)
      Functional Consequence:
      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      HGVS:
      NC_000008.11:g.124515906T>C, NC_000008.11:g.124515906T>G, NC_000008.10:g.125528147T>C, NC_000008.10:g.125528147T>G, NW_025791784.1:g.50856T>C, NW_025791784.1:g.50856T>G, XM_006716666.5:c.279A>G, XM_006716666.5:c.279A>C, XM_006716666.4:c.279A>G, XM_006716666.4:c.279A>C, XM_006716666.3:c.279A>G, XM_006716666.3:c.279A>C, XM_006716666.2:c.279A>G, XM_006716666.2:c.279A>C, XM_006716666.1:c.279A>G, XM_006716666.1:c.279A>C, XM_006716669.4:c.228A>G, XM_006716669.4:c.228A>C, XM_006716669.3:c.228A>G, XM_006716669.3:c.228A>C, XM_006716669.2:c.228A>G, XM_006716669.2:c.228A>C, XM_006716669.1:c.228A>G, XM_006716669.1:c.228A>C, XM_011517331.4:c.261A>G, XM_011517331.4:c.261A>C, XM_011517331.3:c.261A>G, XM_011517331.3:c.261A>C, XM_011517331.2:c.261A>G, XM_011517331.2:c.261A>C, XM_011517331.1:c.261A>G, XM_011517331.1:c.261A>C, NM_032026.4:c.327A>G, NM_032026.4:c.327A>C, NM_032026.3:c.327A>G, NM_032026.3:c.327A>C, XM_017013895.3:c.279A>G, XM_017013895.3:c.279A>C, XM_017013895.2:c.279A>G, XM_017013895.2:c.279A>C, XM_017013895.1:c.279A>G, XM_017013895.1:c.279A>C, XM_017013897.3:c.228A>G, XM_017013897.3:c.228A>C, XM_017013897.2:c.228A>G, XM_017013897.2:c.228A>C, XM_017013897.1:c.228A>G, XM_017013897.1:c.228A>C, XM_017013899.2:c.327A>G, XM_017013899.2:c.327A>C, XM_017013899.1:c.327A>G, XM_017013899.1:c.327A>C, NR_027427.1:n.369A>G, NR_027427.1:n.369A>C, NM_001317889.1:c.327A>G, NM_001317889.1:c.327A>C, XM_047422301.1:c.186A>G, XM_047422301.1:c.186A>C, XM_047422300.1:c.228A>G, XM_047422300.1:c.228A>C, NM_001317890.1:c.165A>G, NM_001317890.1:c.165A>C, NM_001146160.1:c.186A>G, NM_001146160.1:c.186A>C, XM_047422302.1:c.186A>G, XM_047422302.1:c.186A>C, XR_007060757.1:n.463A>G, XR_007060757.1:n.463A>C, XR_007060756.1:n.369A>G, XR_007060756.1:n.369A>C, XM_024447293.2:c.261A>G, XM_024447293.2:c.261A>C, XM_024447293.1:c.261A>G, XM_024447293.1:c.261A>C

      3.

      rs1483849778 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        8:124515787 (GRCh38)
        8:125528028 (GRCh37)
        Canonical SPDI:
        NC_000008.11:124515786:A:C
        Gene:
        TATDN1 (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000011/3 (TOPMED)
        HGVS:
        NC_000008.11:g.124515787A>C, NC_000008.10:g.125528028A>C, NW_025791784.1:g.50737A>C, XM_006716666.5:c.300T>G, XM_006716666.4:c.300T>G, XM_006716666.3:c.300T>G, XM_006716666.2:c.300T>G, XM_006716666.1:c.300T>G, XM_006716669.4:c.249T>G, XM_006716669.3:c.249T>G, XM_006716669.2:c.249T>G, XM_006716669.1:c.249T>G, XM_011517331.4:c.282T>G, XM_011517331.3:c.282T>G, XM_011517331.2:c.282T>G, XM_011517331.1:c.282T>G, NM_032026.4:c.348T>G, NM_032026.3:c.348T>G, XM_017013895.3:c.300T>G, XM_017013895.2:c.300T>G, XM_017013895.1:c.300T>G, XM_017013897.3:c.249T>G, XM_017013897.2:c.249T>G, XM_017013897.1:c.249T>G, XM_017013899.2:c.348T>G, XM_017013899.1:c.348T>G, NR_027427.1:n.390T>G, NM_001317889.1:c.348T>G, XM_047422301.1:c.207T>G, XM_047422300.1:c.249T>G, NM_001317890.1:c.186T>G, NM_001146160.1:c.207T>G, XM_047422302.1:c.207T>G, XR_007060757.1:n.484T>G, XR_007060756.1:n.390T>G, XM_024447293.2:c.282T>G, XM_024447293.1:c.282T>G, XP_006716729.1:p.Asp100Glu, XP_006716732.1:p.Asp83Glu, XP_011515633.1:p.Asp94Glu, NP_114415.1:p.Asp116Glu, XP_016869384.1:p.Asp100Glu, XP_016869386.1:p.Asp83Glu, XP_016869388.1:p.Asp116Glu, NP_001304818.1:p.Asp116Glu, XP_047278257.1:p.Asp69Glu, XP_047278256.1:p.Asp83Glu, NP_001304819.1:p.Asp62Glu, NP_001139632.1:p.Asp69Glu, XP_047278258.1:p.Asp69Glu, XP_024303061.1:p.Asp94Glu

        4.

        rs1483248429 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          8:124504304 (GRCh38)
          8:125516545 (GRCh37)
          Canonical SPDI:
          NC_000008.11:124504303:A:G
          Gene:
          TATDN1 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant
          HGVS:
          NC_000008.11:g.124504304A>G, NC_000008.10:g.125516545A>G, NW_025791784.1:g.39254A>G, XM_006716666.5:c.512T>C, XM_006716666.4:c.512T>C, XM_006716666.3:c.512T>C, XM_006716666.2:c.512T>C, XM_006716666.1:c.512T>C, XM_006716669.4:c.461T>C, XM_006716669.3:c.461T>C, XM_006716669.2:c.461T>C, XM_006716669.1:c.461T>C, XM_011517331.4:c.494T>C, XM_011517331.3:c.494T>C, XM_011517331.2:c.494T>C, XM_011517331.1:c.494T>C, NM_032026.4:c.560T>C, NM_032026.3:c.560T>C, XM_017013895.3:c.512T>C, XM_017013895.2:c.512T>C, XM_017013895.1:c.512T>C, XM_017013897.3:c.461T>C, XM_017013897.2:c.461T>C, XM_017013897.1:c.461T>C, XM_017013899.2:c.560T>C, XM_017013899.1:c.560T>C, NR_027427.1:n.602T>C, NM_001317889.1:c.560T>C, XM_047422301.1:c.419T>C, XM_047422300.1:c.461T>C, NM_001317890.1:c.398T>C, NM_001146160.1:c.419T>C, XM_047422302.1:c.419T>C, XR_007060757.1:n.696T>C, NM_001317891.1:c.125T>C, XR_007060756.1:n.602T>C, XM_024447293.2:c.494T>C, XM_024447293.1:c.494T>C, XP_006716729.1:p.Ile171Thr, XP_006716732.1:p.Ile154Thr, XP_011515633.1:p.Ile165Thr, NP_114415.1:p.Ile187Thr, XP_016869384.1:p.Ile171Thr, XP_016869386.1:p.Ile154Thr, XP_016869388.1:p.Ile187Thr, NP_001304818.1:p.Ile187Thr, XP_047278257.1:p.Ile140Thr, XP_047278256.1:p.Ile154Thr, NP_001304819.1:p.Ile133Thr, NP_001139632.1:p.Ile140Thr, XP_047278258.1:p.Ile140Thr, NP_001304820.1:p.Ile42Thr, XP_024303061.1:p.Ile165Thr

          5.

          rs1481908439 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            8:124515749 (GRCh38)
            8:125527990 (GRCh37)
            Canonical SPDI:
            NC_000008.11:124515748:A:G
            Gene:
            TATDN1 (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency
            MAF:
            G=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.124515749A>G, NC_000008.10:g.125527990A>G, NW_025791784.1:g.50699A>G, XM_006716666.5:c.338T>C, XM_006716666.4:c.338T>C, XM_006716666.3:c.338T>C, XM_006716666.2:c.338T>C, XM_006716666.1:c.338T>C, XM_006716669.4:c.287T>C, XM_006716669.3:c.287T>C, XM_006716669.2:c.287T>C, XM_006716669.1:c.287T>C, XM_011517331.4:c.320T>C, XM_011517331.3:c.320T>C, XM_011517331.2:c.320T>C, XM_011517331.1:c.320T>C, NM_032026.4:c.386T>C, NM_032026.3:c.386T>C, XM_017013895.3:c.338T>C, XM_017013895.2:c.338T>C, XM_017013895.1:c.338T>C, XM_017013897.3:c.287T>C, XM_017013897.2:c.287T>C, XM_017013897.1:c.287T>C, XM_017013899.2:c.386T>C, XM_017013899.1:c.386T>C, NR_027427.1:n.428T>C, NM_001317889.1:c.386T>C, XM_047422301.1:c.245T>C, XM_047422300.1:c.287T>C, NM_001317890.1:c.224T>C, NM_001146160.1:c.245T>C, XM_047422302.1:c.245T>C, XR_007060757.1:n.522T>C, XR_007060756.1:n.428T>C, XM_024447293.2:c.320T>C, XM_024447293.1:c.320T>C, XP_006716729.1:p.Leu113Pro, XP_006716732.1:p.Leu96Pro, XP_011515633.1:p.Leu107Pro, NP_114415.1:p.Leu129Pro, XP_016869384.1:p.Leu113Pro, XP_016869386.1:p.Leu96Pro, XP_016869388.1:p.Leu129Pro, NP_001304818.1:p.Leu129Pro, XP_047278257.1:p.Leu82Pro, XP_047278256.1:p.Leu96Pro, NP_001304819.1:p.Leu75Pro, NP_001139632.1:p.Leu82Pro, XP_047278258.1:p.Leu82Pro, XP_024303061.1:p.Leu107Pro

            6.

            rs1476267324 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              8:124508481 (GRCh38)
              8:125520722 (GRCh37)
              Canonical SPDI:
              NC_000008.11:124508480:C:T
              Gene:
              TATDN1 (Varview), MIR6844 (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000008.11:g.124508481C>T, NC_000008.10:g.125520722C>T, NW_025791784.1:g.43431C>T, XM_006716666.5:c.461G>A, XM_006716666.4:c.461G>A, XM_006716666.3:c.461G>A, XM_006716666.2:c.461G>A, XM_006716666.1:c.461G>A, XM_006716669.4:c.410G>A, XM_006716669.3:c.410G>A, XM_006716669.2:c.410G>A, XM_006716669.1:c.410G>A, XM_011517331.4:c.443G>A, XM_011517331.3:c.443G>A, XM_011517331.2:c.443G>A, XM_011517331.1:c.443G>A, NM_032026.4:c.509G>A, NM_032026.3:c.509G>A, XM_017013895.3:c.461G>A, XM_017013895.2:c.461G>A, XM_017013895.1:c.461G>A, XM_017013897.3:c.410G>A, XM_017013897.2:c.410G>A, XM_017013897.1:c.410G>A, XM_017013899.2:c.509G>A, XM_017013899.1:c.509G>A, NR_027427.1:n.551G>A, NM_001317889.1:c.509G>A, XM_047422301.1:c.368G>A, XM_047422300.1:c.410G>A, NM_001317890.1:c.347G>A, NM_001146160.1:c.368G>A, XM_047422302.1:c.368G>A, XR_007060757.1:n.645G>A, NM_001317891.1:c.74G>A, XR_007060756.1:n.551G>A, XM_024447293.2:c.443G>A, XM_024447293.1:c.443G>A, XP_006716729.1:p.Gly154Glu, XP_006716732.1:p.Gly137Glu, XP_011515633.1:p.Gly148Glu, NP_114415.1:p.Gly170Glu, XP_016869384.1:p.Gly154Glu, XP_016869386.1:p.Gly137Glu, XP_016869388.1:p.Gly170Glu, NP_001304818.1:p.Gly170Glu, XP_047278257.1:p.Gly123Glu, XP_047278256.1:p.Gly137Glu, NP_001304819.1:p.Gly116Glu, NP_001139632.1:p.Gly123Glu, XP_047278258.1:p.Gly123Glu, NP_001304820.1:p.Gly25Glu, XP_024303061.1:p.Gly148Glu

              7.

              rs1474843467 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                8:124488682 (GRCh38)
                8:125500923 (GRCh37)
                Canonical SPDI:
                NC_000008.11:124488681:A:G
                Gene:
                RNF139 (Varview), TATDN1 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (GnomAD_exomes)
                G=0.000071/1 (TOMMO)
                G=0.000342/1 (KOREAN)
                HGVS:
                NC_000008.11:g.124488682A>G, NC_000008.10:g.125500923A>G, NG_012158.1:g.18916A>G, NW_025791784.1:g.23632A>G, XM_006716666.5:c.866T>C, XM_006716666.4:c.866T>C, XM_006716666.3:c.866T>C, XM_006716666.2:c.866T>C, XM_006716666.1:c.866T>C, XM_006716669.4:c.815T>C, XM_006716669.3:c.815T>C, XM_006716669.2:c.815T>C, XM_006716669.1:c.815T>C, XM_011517331.4:c.848T>C, XM_011517331.3:c.848T>C, XM_011517331.2:c.848T>C, XM_011517331.1:c.848T>C, NM_032026.4:c.806T>C, NM_032026.3:c.806T>C, XM_017013895.3:c.758T>C, XM_017013895.2:c.758T>C, XM_017013895.1:c.758T>C, XM_017013897.3:c.707T>C, XM_017013897.2:c.707T>C, XM_017013897.1:c.707T>C, XM_024447293.2:c.740T>C, XM_024447293.1:c.740T>C, NR_027427.1:n.960T>C, NM_001317889.1:c.914T>C, XM_047422301.1:c.773T>C, XM_047422300.1:c.815T>C, NM_001317890.1:c.644T>C, NM_001146160.1:c.665T>C, XM_047422302.1:c.665T>C, NM_001317891.1:c.371T>C, XP_006716729.1:p.Ile289Thr, XP_006716732.1:p.Ile272Thr, XP_011515633.1:p.Ile283Thr, NP_114415.1:p.Ile269Thr, XP_016869384.1:p.Ile253Thr, XP_016869386.1:p.Ile236Thr, XP_024303061.1:p.Ile247Thr, NP_001304818.1:p.Ile305Thr, XP_047278257.1:p.Ile258Thr, XP_047278256.1:p.Ile272Thr, NP_001304819.1:p.Ile215Thr, NP_001139632.1:p.Ile222Thr, XP_047278258.1:p.Ile222Thr, NP_001304820.1:p.Ile124Thr

                8.

                rs1463321304 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  8:124518851 (GRCh38)
                  8:125531092 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:124518850:T:C
                  Gene:
                  TATDN1 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                  HGVS:
                  NC_000008.11:g.124518851T>C, NC_000008.10:g.125531092T>C, NW_025791784.1:g.53801T>C, XM_006716666.5:c.121A>G, XM_006716666.4:c.121A>G, XM_006716666.3:c.121A>G, XM_006716666.2:c.121A>G, XM_006716666.1:c.121A>G, XM_006716669.4:c.-7A>G, XM_006716669.3:c.-7A>G, XM_006716669.2:c.-7A>G, XM_006716669.1:c.-7A>G, XM_011517331.4:c.103A>G, XM_011517331.3:c.103A>G, XM_011517331.2:c.103A>G, XM_011517331.1:c.103A>G, NM_032026.4:c.169A>G, NM_032026.3:c.169A>G, XM_017013895.3:c.121A>G, XM_017013895.2:c.121A>G, XM_017013895.1:c.121A>G, XM_017013897.3:c.-7A>G, XM_017013897.2:c.-7A>G, XM_017013897.1:c.-7A>G, XM_017013899.2:c.169A>G, XM_017013899.1:c.169A>G, NR_027427.1:n.211A>G, NM_001317889.1:c.169A>G, XM_047422301.1:c.28A>G, XM_047422300.1:c.-7A>G, NM_001146160.1:c.28A>G, XM_047422302.1:c.28A>G, XR_007060757.1:n.305A>G, NM_001317891.1:c.-80A>G, XR_007060756.1:n.211A>G, XM_024447293.2:c.103A>G, XM_024447293.1:c.103A>G, XP_006716729.1:p.Ser41Gly, XP_011515633.1:p.Ser35Gly, NP_114415.1:p.Ser57Gly, XP_016869384.1:p.Ser41Gly, XP_016869388.1:p.Ser57Gly, NP_001304818.1:p.Ser57Gly, XP_047278257.1:p.Ser10Gly, NP_001139632.1:p.Ser10Gly, XP_047278258.1:p.Ser10Gly, XP_024303061.1:p.Ser35Gly

                  9.

                  rs1462103265 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->TT [Show Flanks]
                    Chromosome:
                    8:124515969 (GRCh38)
                    8:125528211 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:124515969:TT:TTTT
                    Gene:
                    TATDN1 (Varview)
                    Functional Consequence:
                    frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TTTT=0.000071/1 (ALFA)
                    TT=0.000004/1 (GnomAD_exomes)
                    TT=0.000008/2 (TOPMED)
                    TT=0.000014/2 (GnomAD)
                    HGVS:
                    NC_000008.11:g.124515970_124515971dup, NC_000008.10:g.125528211_125528212dup, NW_025791784.1:g.50920_50921dup, XM_006716666.5:c.214_215dup, XM_006716666.4:c.214_215dup, XM_006716666.3:c.214_215dup, XM_006716666.2:c.214_215dup, XM_006716666.1:c.214_215dup, XM_006716669.4:c.163_164dup, XM_006716669.3:c.163_164dup, XM_006716669.2:c.163_164dup, XM_006716669.1:c.163_164dup, XM_011517331.4:c.196_197dup, XM_011517331.3:c.196_197dup, XM_011517331.2:c.196_197dup, XM_011517331.1:c.196_197dup, NM_032026.4:c.262_263dup, NM_032026.3:c.262_263dup, XM_017013895.3:c.214_215dup, XM_017013895.2:c.214_215dup, XM_017013895.1:c.214_215dup, XM_017013897.3:c.163_164dup, XM_017013897.2:c.163_164dup, XM_017013897.1:c.163_164dup, XM_017013899.2:c.262_263dup, XM_017013899.1:c.262_263dup, NR_027427.1:n.304_305dup, NM_001317889.1:c.262_263dup, XM_047422301.1:c.121_122dup, XM_047422300.1:c.163_164dup, NM_001317890.1:c.100_101dup, NM_001146160.1:c.121_122dup, XM_047422302.1:c.121_122dup, XR_007060757.1:n.398_399dup, XR_007060756.1:n.304_305dup, XM_024447293.2:c.196_197dup, XM_024447293.1:c.196_197dup, XP_006716729.1:p.Asn72fs, XP_006716732.1:p.Asn55fs, XP_011515633.1:p.Asn66fs, NP_114415.1:p.Asn88fs, XP_016869384.1:p.Asn72fs, XP_016869386.1:p.Asn55fs, XP_016869388.1:p.Asn88fs, NP_001304818.1:p.Asn88fs, XP_047278257.1:p.Asn41fs, XP_047278256.1:p.Asn55fs, NP_001304819.1:p.Asn34fs, NP_001139632.1:p.Asn41fs, XP_047278258.1:p.Asn41fs, XP_024303061.1:p.Asn66fs

                    10.

                    rs1460813736 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      A>- [Show Flanks]
                      Chromosome:
                      8:124488603 (GRCh38)
                      8:125500844 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:124488602:A:
                      Gene:
                      RNF139 (Varview), TATDN1 (Varview)
                      Functional Consequence:
                      3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,frameshift_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      -=0./0 (ALFA)
                      -=0.000004/1 (GnomAD_exomes)
                      -=0.000015/4 (TOPMED)
                      -=0.000021/3 (GnomAD)
                      HGVS:
                      NC_000008.11:g.124488603del, NC_000008.10:g.125500844del, NG_012158.1:g.18837del, NM_007218.4:c.*959del, NM_007218.3:c.*959del, NW_025791784.1:g.23553del, XM_006716666.5:c.945del, XM_006716666.4:c.945del, XM_006716666.3:c.945del, XM_006716666.2:c.945del, XM_006716666.1:c.945del, XM_006716669.4:c.894del, XM_006716669.3:c.894del, XM_006716669.2:c.894del, XM_006716669.1:c.894del, XM_011517331.4:c.927del, XM_011517331.3:c.927del, XM_011517331.2:c.927del, XM_011517331.1:c.927del, NM_032026.4:c.885del, NM_032026.3:c.885del, XM_017013895.3:c.837del, XM_017013895.2:c.837del, XM_017013895.1:c.837del, XM_017013897.3:c.786del, XM_017013897.2:c.786del, XM_017013897.1:c.786del, XM_024447293.2:c.819del, XM_024447293.1:c.819del, XM_047421310.1:c.*959del, NR_027427.1:n.1039del, NM_001317889.1:c.993del, XM_047422301.1:c.852del, NM_001317890.1:c.723del, NM_001146160.1:c.744del, XM_047422302.1:c.744del, NM_001317891.1:c.450del, XM_047422300.1:c.894del, XP_006716729.1:p.Gly316fs, XP_006716732.1:p.Gly299fs, XP_011515633.1:p.Gly310fs, NP_114415.1:p.Gly296fs, XP_016869384.1:p.Gly280fs, XP_016869386.1:p.Gly263fs, XP_024303061.1:p.Gly274fs, NP_001304818.1:p.Gly332fs, XP_047278257.1:p.Gly285fs, NP_001304819.1:p.Gly242fs, NP_001139632.1:p.Gly249fs, XP_047278258.1:p.Gly249fs, NP_001304820.1:p.Gly151fs, XP_047278256.1:p.Gly299fs

                      11.

                      rs1455052136 [Homo sapiens]
                        Variant type:
                        INS
                        Alleles:
                        ->C [Show Flanks]
                        Chromosome:
                        8:124508675 (GRCh38)
                        8:125520917 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:124508675::C
                        Gene:
                        TATDN1 (Varview), MIR6844 (Varview)
                        Functional Consequence:
                        5_prime_UTR_variant,frameshift_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000008.11:g.124508675_124508676insC, NC_000008.10:g.125520916_125520917insC, NW_025791784.1:g.43625_43626insC, XM_006716666.5:c.354_355insG, XM_006716666.4:c.354_355insG, XM_006716666.3:c.354_355insG, XM_006716666.2:c.354_355insG, XM_006716666.1:c.354_355insG, XM_006716669.4:c.303_304insG, XM_006716669.3:c.303_304insG, XM_006716669.2:c.303_304insG, XM_006716669.1:c.303_304insG, XM_011517331.4:c.336_337insG, XM_011517331.3:c.336_337insG, XM_011517331.2:c.336_337insG, XM_011517331.1:c.336_337insG, NM_032026.4:c.402_403insG, NM_032026.3:c.402_403insG, XM_017013895.3:c.354_355insG, XM_017013895.2:c.354_355insG, XM_017013895.1:c.354_355insG, XM_017013897.3:c.303_304insG, XM_017013897.2:c.303_304insG, XM_017013897.1:c.303_304insG, XM_017013899.2:c.402_403insG, XM_017013899.1:c.402_403insG, NR_027427.1:n.444_445insG, NM_001317889.1:c.402_403insG, XM_047422301.1:c.261_262insG, XM_047422300.1:c.303_304insG, NM_001317890.1:c.240_241insG, NM_001146160.1:c.261_262insG, XM_047422302.1:c.261_262insG, XR_007060757.1:n.538_539insG, NM_001317891.1:c.-34_-33insG, XR_007060756.1:n.444_445insG, XM_024447293.2:c.336_337insG, XM_024447293.1:c.336_337insG, XP_006716729.1:p.Gln119fs, XP_006716732.1:p.Gln102fs, XP_011515633.1:p.Gln113fs, NP_114415.1:p.Gln135fs, XP_016869384.1:p.Gln119fs, XP_016869386.1:p.Gln102fs, XP_016869388.1:p.Gln135fs, NP_001304818.1:p.Gln135fs, XP_047278257.1:p.Gln88fs, XP_047278256.1:p.Gln102fs, NP_001304819.1:p.Gln81fs, NP_001139632.1:p.Gln88fs, XP_047278258.1:p.Gln88fs, XP_024303061.1:p.Gln113fs

                        12.

                        rs1454791352 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>G [Show Flanks]
                          Chromosome:
                          8:124508505 (GRCh38)
                          8:125520746 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:124508504:T:G
                          Gene:
                          TATDN1 (Varview), MIR6844 (Varview)
                          Functional Consequence:
                          500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000008.11:g.124508505T>G, NC_000008.10:g.125520746T>G, NW_025791784.1:g.43455T>G, XM_006716666.5:c.437A>C, XM_006716666.4:c.437A>C, XM_006716666.3:c.437A>C, XM_006716666.2:c.437A>C, XM_006716666.1:c.437A>C, XM_006716669.4:c.386A>C, XM_006716669.3:c.386A>C, XM_006716669.2:c.386A>C, XM_006716669.1:c.386A>C, XM_011517331.4:c.419A>C, XM_011517331.3:c.419A>C, XM_011517331.2:c.419A>C, XM_011517331.1:c.419A>C, NM_032026.4:c.485A>C, NM_032026.3:c.485A>C, XM_017013895.3:c.437A>C, XM_017013895.2:c.437A>C, XM_017013895.1:c.437A>C, XM_017013897.3:c.386A>C, XM_017013897.2:c.386A>C, XM_017013897.1:c.386A>C, XM_017013899.2:c.485A>C, XM_017013899.1:c.485A>C, NR_027427.1:n.527A>C, NM_001317889.1:c.485A>C, XM_047422301.1:c.344A>C, XM_047422300.1:c.386A>C, NM_001317890.1:c.323A>C, NM_001146160.1:c.344A>C, XM_047422302.1:c.344A>C, XR_007060757.1:n.621A>C, NM_001317891.1:c.50A>C, XR_007060756.1:n.527A>C, XM_024447293.2:c.419A>C, XM_024447293.1:c.419A>C, XP_006716729.1:p.Lys146Thr, XP_006716732.1:p.Lys129Thr, XP_011515633.1:p.Lys140Thr, NP_114415.1:p.Lys162Thr, XP_016869384.1:p.Lys146Thr, XP_016869386.1:p.Lys129Thr, XP_016869388.1:p.Lys162Thr, NP_001304818.1:p.Lys162Thr, XP_047278257.1:p.Lys115Thr, XP_047278256.1:p.Lys129Thr, NP_001304819.1:p.Lys108Thr, NP_001139632.1:p.Lys115Thr, XP_047278258.1:p.Lys115Thr, NP_001304820.1:p.Lys17Thr, XP_024303061.1:p.Lys140Thr

                          13.

                          rs1454635651 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            8:124493923 (GRCh38)
                            8:125506164 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:124493922:C:A
                            Gene:
                            TATDN1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                            HGVS:
                            NC_000008.11:g.124493923C>A, NC_000008.10:g.125506164C>A, NW_025791784.1:g.28873C>A, XM_006716666.5:c.761G>T, XM_006716666.4:c.761G>T, XM_006716666.3:c.761G>T, XM_006716666.2:c.761G>T, XM_006716666.1:c.761G>T, XM_006716669.4:c.710G>T, XM_006716669.3:c.710G>T, XM_006716669.2:c.710G>T, XM_006716669.1:c.710G>T, XM_011517331.4:c.743G>T, XM_011517331.3:c.743G>T, XM_011517331.2:c.743G>T, XM_011517331.1:c.743G>T, NM_032026.4:c.701G>T, NM_032026.3:c.701G>T, XM_024447293.2:c.635G>T, XM_024447293.1:c.635G>T, NR_027427.1:n.855G>T, NM_001317889.1:c.809G>T, XM_047422301.1:c.668G>T, XM_047422300.1:c.710G>T, NM_001317890.1:c.539G>T, XM_047422302.1:c.560G>T, XR_007060757.1:n.833G>T, NM_001317891.1:c.266G>T, XR_007060756.1:n.739G>T, XM_017013895.3:c.653G>T, XM_017013895.2:c.653G>T, XM_017013895.1:c.653G>T, XM_017013897.3:c.602G>T, XM_017013897.2:c.602G>T, XM_017013897.1:c.602G>T, NM_001146160.1:c.560G>T, XP_006716729.1:p.Gly254Val, XP_006716732.1:p.Gly237Val, XP_011515633.1:p.Gly248Val, NP_114415.1:p.Gly234Val, XP_024303061.1:p.Gly212Val, NP_001304818.1:p.Gly270Val, XP_047278257.1:p.Gly223Val, XP_047278256.1:p.Gly237Val, NP_001304819.1:p.Gly180Val, XP_047278258.1:p.Gly187Val, NP_001304820.1:p.Gly89Val, XP_016869384.1:p.Gly218Val, XP_016869386.1:p.Gly201Val, NP_001139632.1:p.Gly187Val

                            14.

                            rs1453984092 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              8:124504288 (GRCh38)
                              8:125516529 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:124504287:A:G
                              Gene:
                              TATDN1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000008.11:g.124504288A>G, NC_000008.10:g.125516529A>G, NW_025791784.1:g.39238A>G, XM_006716666.5:c.528T>C, XM_006716666.4:c.528T>C, XM_006716666.3:c.528T>C, XM_006716666.2:c.528T>C, XM_006716666.1:c.528T>C, XM_006716669.4:c.477T>C, XM_006716669.3:c.477T>C, XM_006716669.2:c.477T>C, XM_006716669.1:c.477T>C, XM_011517331.4:c.510T>C, XM_011517331.3:c.510T>C, XM_011517331.2:c.510T>C, XM_011517331.1:c.510T>C, NM_032026.4:c.576T>C, NM_032026.3:c.576T>C, XM_017013895.3:c.528T>C, XM_017013895.2:c.528T>C, XM_017013895.1:c.528T>C, XM_017013897.3:c.477T>C, XM_017013897.2:c.477T>C, XM_017013897.1:c.477T>C, XM_017013899.2:c.576T>C, XM_017013899.1:c.576T>C, NR_027427.1:n.618T>C, NM_001317889.1:c.576T>C, XM_047422301.1:c.435T>C, XM_047422300.1:c.477T>C, NM_001317890.1:c.414T>C, NM_001146160.1:c.435T>C, XM_047422302.1:c.435T>C, XR_007060757.1:n.712T>C, NM_001317891.1:c.141T>C, XR_007060756.1:n.618T>C, XM_024447293.2:c.510T>C, XM_024447293.1:c.510T>C

                              15.

                              rs1453200773 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A [Show Flanks]
                                Chromosome:
                                8:124493854 (GRCh38)
                                8:125506095 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:124493853:C:A
                                Gene:
                                TATDN1 (Varview)
                                Functional Consequence:
                                downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                A=0.000011/3 (TOPMED)
                                HGVS:
                                NC_000008.11:g.124493854C>A, NC_000008.10:g.125506095C>A, NW_025791784.1:g.28804C>A, XM_006716666.5:c.830G>T, XM_006716666.4:c.830G>T, XM_006716666.3:c.830G>T, XM_006716666.2:c.830G>T, XM_006716666.1:c.830G>T, XM_006716669.4:c.779G>T, XM_006716669.3:c.779G>T, XM_006716669.2:c.779G>T, XM_006716669.1:c.779G>T, XM_011517331.4:c.812G>T, XM_011517331.3:c.812G>T, XM_011517331.2:c.812G>T, XM_011517331.1:c.812G>T, NM_032026.4:c.770G>T, NM_032026.3:c.770G>T, XM_017013895.3:c.722G>T, XM_017013895.2:c.722G>T, XM_017013895.1:c.722G>T, XM_017013897.3:c.671G>T, XM_017013897.2:c.671G>T, XM_017013897.1:c.671G>T, XM_024447293.2:c.704G>T, XM_024447293.1:c.704G>T, NR_027427.1:n.924G>T, NM_001317889.1:c.878G>T, XM_047422301.1:c.737G>T, XM_047422300.1:c.779G>T, NM_001317890.1:c.608G>T, NM_001146160.1:c.629G>T, XM_047422302.1:c.629G>T, NM_001317891.1:c.335G>T, XP_006716729.1:p.Arg277Ile, XP_006716732.1:p.Arg260Ile, XP_011515633.1:p.Arg271Ile, NP_114415.1:p.Arg257Ile, XP_016869384.1:p.Arg241Ile, XP_016869386.1:p.Arg224Ile, XP_024303061.1:p.Arg235Ile, NP_001304818.1:p.Arg293Ile, XP_047278257.1:p.Arg246Ile, XP_047278256.1:p.Arg260Ile, NP_001304819.1:p.Arg203Ile, NP_001139632.1:p.Arg210Ile, XP_047278258.1:p.Arg210Ile, NP_001304820.1:p.Arg112Ile

                                16.

                                rs1437324913 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  8:124493912 (GRCh38)
                                  8:125506153 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:124493911:T:C
                                  Gene:
                                  TATDN1 (Varview)
                                  Functional Consequence:
                                  genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0.000071/1 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  C=0.000342/1 (KOREAN)
                                  HGVS:
                                  NC_000008.11:g.124493912T>C, NC_000008.10:g.125506153T>C, NW_025791784.1:g.28862T>C, XM_006716666.5:c.772A>G, XM_006716666.4:c.772A>G, XM_006716666.3:c.772A>G, XM_006716666.2:c.772A>G, XM_006716666.1:c.772A>G, XM_006716669.4:c.721A>G, XM_006716669.3:c.721A>G, XM_006716669.2:c.721A>G, XM_006716669.1:c.721A>G, XM_011517331.4:c.754A>G, XM_011517331.3:c.754A>G, XM_011517331.2:c.754A>G, XM_011517331.1:c.754A>G, NM_032026.4:c.712A>G, NM_032026.3:c.712A>G, XM_017013895.3:c.664A>G, XM_017013895.2:c.664A>G, XM_017013895.1:c.664A>G, XM_017013897.3:c.613A>G, XM_017013897.2:c.613A>G, XM_017013897.1:c.613A>G, XM_024447293.2:c.646A>G, XM_024447293.1:c.646A>G, NR_027427.1:n.866A>G, NM_001317889.1:c.820A>G, XM_047422301.1:c.679A>G, XM_047422300.1:c.721A>G, NM_001317890.1:c.550A>G, NM_001146160.1:c.571A>G, XM_047422302.1:c.571A>G, NM_001317891.1:c.277A>G, XP_006716729.1:p.Ile258Val, XP_006716732.1:p.Ile241Val, XP_011515633.1:p.Ile252Val, NP_114415.1:p.Ile238Val, XP_016869384.1:p.Ile222Val, XP_016869386.1:p.Ile205Val, XP_024303061.1:p.Ile216Val, NP_001304818.1:p.Ile274Val, XP_047278257.1:p.Ile227Val, XP_047278256.1:p.Ile241Val, NP_001304819.1:p.Ile184Val, NP_001139632.1:p.Ile191Val, XP_047278258.1:p.Ile191Val, NP_001304820.1:p.Ile93Val

                                  17.

                                  rs1433188540 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    8:124515922 (GRCh38)
                                    8:125528163 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:124515921:T:G
                                    Gene:
                                    TATDN1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.0002/1 (ALFA)
                                    G=0.0002/1 (Estonian)
                                    HGVS:
                                    NC_000008.11:g.124515922T>G, NC_000008.10:g.125528163T>G, NW_025791784.1:g.50872T>G, XM_006716666.5:c.263A>C, XM_006716666.4:c.263A>C, XM_006716666.3:c.263A>C, XM_006716666.2:c.263A>C, XM_006716666.1:c.263A>C, XM_006716669.4:c.212A>C, XM_006716669.3:c.212A>C, XM_006716669.2:c.212A>C, XM_006716669.1:c.212A>C, XM_011517331.4:c.245A>C, XM_011517331.3:c.245A>C, XM_011517331.2:c.245A>C, XM_011517331.1:c.245A>C, NM_032026.4:c.311A>C, NM_032026.3:c.311A>C, XM_017013895.3:c.263A>C, XM_017013895.2:c.263A>C, XM_017013895.1:c.263A>C, XM_017013897.3:c.212A>C, XM_017013897.2:c.212A>C, XM_017013897.1:c.212A>C, XM_017013899.2:c.311A>C, XM_017013899.1:c.311A>C, NR_027427.1:n.353A>C, NM_001317889.1:c.311A>C, XM_047422301.1:c.170A>C, XM_047422300.1:c.212A>C, NM_001317890.1:c.149A>C, NM_001146160.1:c.170A>C, XM_047422302.1:c.170A>C, XR_007060757.1:n.447A>C, XR_007060756.1:n.353A>C, XM_024447293.2:c.245A>C, XM_024447293.1:c.245A>C, XP_006716729.1:p.Lys88Thr, XP_006716732.1:p.Lys71Thr, XP_011515633.1:p.Lys82Thr, NP_114415.1:p.Lys104Thr, XP_016869384.1:p.Lys88Thr, XP_016869386.1:p.Lys71Thr, XP_016869388.1:p.Lys104Thr, NP_001304818.1:p.Lys104Thr, XP_047278257.1:p.Lys57Thr, XP_047278256.1:p.Lys71Thr, NP_001304819.1:p.Lys50Thr, NP_001139632.1:p.Lys57Thr, XP_047278258.1:p.Lys57Thr, XP_024303061.1:p.Lys82Thr

                                    18.

                                    rs1415320813 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      TAT>- [Show Flanks]
                                      Chromosome:
                                      8:124488681 (GRCh38)
                                      8:125500922 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:124488678:ATTAT:AT
                                      Gene:
                                      RNF139 (Varview), TATDN1 (Varview)
                                      Functional Consequence:
                                      500B_downstream_variant,inframe_deletion,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      AT=0./0 (ALFA)
                                      -=0.000004/1 (GnomAD_exomes)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000008.11:g.124488681_124488683del, NC_000008.10:g.125500922_125500924del, NG_012158.1:g.18915_18917del, NW_025791784.1:g.23631_23633del, XM_006716666.5:c.867_869del, XM_006716666.4:c.867_869del, XM_006716666.3:c.867_869del, XM_006716666.2:c.867_869del, XM_006716666.1:c.867_869del, XM_006716669.4:c.816_818del, XM_006716669.3:c.816_818del, XM_006716669.2:c.816_818del, XM_006716669.1:c.816_818del, XM_011517331.4:c.849_851del, XM_011517331.3:c.849_851del, XM_011517331.2:c.849_851del, XM_011517331.1:c.849_851del, NM_032026.4:c.807_809del, NM_032026.3:c.807_809del, XM_017013895.3:c.759_761del, XM_017013895.2:c.759_761del, XM_017013895.1:c.759_761del, XM_017013897.3:c.708_710del, XM_017013897.2:c.708_710del, XM_017013897.1:c.708_710del, XM_024447293.2:c.741_743del, XM_024447293.1:c.741_743del, NR_027427.1:n.961_963del, NM_001317889.1:c.915_917del, XM_047422301.1:c.774_776del, XM_047422300.1:c.816_818del, NM_001317890.1:c.645_647del, NM_001146160.1:c.666_668del, XM_047422302.1:c.666_668del, NM_001317891.1:c.372_374del, XP_006716729.1:p.Ile289del, XP_006716732.1:p.Ile272del, XP_011515633.1:p.Ile283del, NP_114415.1:p.Ile269del, XP_016869384.1:p.Ile253del, XP_016869386.1:p.Ile236del, XP_024303061.1:p.Ile247del, NP_001304818.1:p.Ile305del, XP_047278257.1:p.Ile258del, XP_047278256.1:p.Ile272del, NP_001304819.1:p.Ile215del, NP_001139632.1:p.Ile222del, XP_047278258.1:p.Ile222del, NP_001304820.1:p.Ile124del

                                      19.

                                      rs1414459994 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        8:124508478 (GRCh38)
                                        8:125520719 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:124508477:C:G
                                        Gene:
                                        TATDN1 (Varview), MIR6844 (Varview)
                                        Functional Consequence:
                                        500B_downstream_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (GnomAD_exomes)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000008.11:g.124508478C>G, NC_000008.10:g.125520719C>G, NW_025791784.1:g.43428C>G, XM_006716666.5:c.464G>C, XM_006716666.4:c.464G>C, XM_006716666.3:c.464G>C, XM_006716666.2:c.464G>C, XM_006716666.1:c.464G>C, XM_006716669.4:c.413G>C, XM_006716669.3:c.413G>C, XM_006716669.2:c.413G>C, XM_006716669.1:c.413G>C, XM_011517331.4:c.446G>C, XM_011517331.3:c.446G>C, XM_011517331.2:c.446G>C, XM_011517331.1:c.446G>C, NM_032026.4:c.512G>C, NM_032026.3:c.512G>C, XM_017013895.3:c.464G>C, XM_017013895.2:c.464G>C, XM_017013895.1:c.464G>C, XM_017013897.3:c.413G>C, XM_017013897.2:c.413G>C, XM_017013897.1:c.413G>C, XM_017013899.2:c.512G>C, XM_017013899.1:c.512G>C, NR_027427.1:n.554G>C, NM_001317889.1:c.512G>C, XM_047422301.1:c.371G>C, XM_047422300.1:c.413G>C, NM_001317890.1:c.350G>C, NM_001146160.1:c.371G>C, XM_047422302.1:c.371G>C, XR_007060757.1:n.648G>C, NM_001317891.1:c.77G>C, XR_007060756.1:n.554G>C, XM_024447293.2:c.446G>C, XM_024447293.1:c.446G>C, XP_006716729.1:p.Gly155Ala, XP_006716732.1:p.Gly138Ala, XP_011515633.1:p.Gly149Ala, NP_114415.1:p.Gly171Ala, XP_016869384.1:p.Gly155Ala, XP_016869386.1:p.Gly138Ala, XP_016869388.1:p.Gly171Ala, NP_001304818.1:p.Gly171Ala, XP_047278257.1:p.Gly124Ala, XP_047278256.1:p.Gly138Ala, NP_001304819.1:p.Gly117Ala, NP_001139632.1:p.Gly124Ala, XP_047278258.1:p.Gly124Ala, NP_001304820.1:p.Gly26Ala, XP_024303061.1:p.Gly149Ala

                                        20.

                                        rs1408341343 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          8:124495531 (GRCh38)
                                          8:125507772 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:124495530:G:A,NC_000008.11:124495530:G:T
                                          Gene:
                                          TATDN1 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000008.11:g.124495531G>A, NC_000008.11:g.124495531G>T, NC_000008.10:g.125507772G>A, NC_000008.10:g.125507772G>T, NW_025791784.1:g.30481G>A, NW_025791784.1:g.30481G>T, XM_006716666.5:c.665C>T, XM_006716666.5:c.665C>A, XM_006716666.4:c.665C>T, XM_006716666.4:c.665C>A, XM_006716666.3:c.665C>T, XM_006716666.3:c.665C>A, XM_006716666.2:c.665C>T, XM_006716666.2:c.665C>A, XM_006716666.1:c.665C>T, XM_006716666.1:c.665C>A, XM_006716669.4:c.614C>T, XM_006716669.4:c.614C>A, XM_006716669.3:c.614C>T, XM_006716669.3:c.614C>A, XM_006716669.2:c.614C>T, XM_006716669.2:c.614C>A, XM_006716669.1:c.614C>T, XM_006716669.1:c.614C>A, XM_011517331.4:c.647C>T, XM_011517331.4:c.647C>A, XM_011517331.3:c.647C>T, XM_011517331.3:c.647C>A, XM_011517331.2:c.647C>T, XM_011517331.2:c.647C>A, XM_011517331.1:c.647C>T, XM_011517331.1:c.647C>A, NM_032026.4:c.605C>T, NM_032026.4:c.605C>A, NM_032026.3:c.605C>T, NM_032026.3:c.605C>A, XM_024447293.2:c.539C>T, XM_024447293.2:c.539C>A, XM_024447293.1:c.539C>T, XM_024447293.1:c.539C>A, NR_027427.1:n.759C>T, NR_027427.1:n.759C>A, NM_001317889.1:c.713C>T, NM_001317889.1:c.713C>A, XM_047422301.1:c.572C>T, XM_047422301.1:c.572C>A, XM_047422300.1:c.614C>T, XM_047422300.1:c.614C>A, NM_001317890.1:c.443C>T, NM_001317890.1:c.443C>A, XM_047422302.1:c.464C>T, XM_047422302.1:c.464C>A, XR_007060757.1:n.737C>T, XR_007060757.1:n.737C>A, NM_001317891.1:c.170C>T, NM_001317891.1:c.170C>A, XR_007060756.1:n.643C>T, XR_007060756.1:n.643C>A, XM_017013895.3:c.557C>T, XM_017013895.3:c.557C>A, XM_017013895.2:c.557C>T, XM_017013895.2:c.557C>A, XM_017013895.1:c.557C>T, XM_017013895.1:c.557C>A, XM_017013897.3:c.506C>T, XM_017013897.3:c.506C>A, XM_017013897.2:c.506C>T, XM_017013897.2:c.506C>A, XM_017013897.1:c.506C>T, XM_017013897.1:c.506C>A, NM_001146160.1:c.464C>T, NM_001146160.1:c.464C>A, XP_006716729.1:p.Thr222Ile, XP_006716729.1:p.Thr222Asn, XP_006716732.1:p.Thr205Ile, XP_006716732.1:p.Thr205Asn, XP_011515633.1:p.Thr216Ile, XP_011515633.1:p.Thr216Asn, NP_114415.1:p.Thr202Ile, NP_114415.1:p.Thr202Asn, XP_024303061.1:p.Thr180Ile, XP_024303061.1:p.Thr180Asn, NP_001304818.1:p.Thr238Ile, NP_001304818.1:p.Thr238Asn, XP_047278257.1:p.Thr191Ile, XP_047278257.1:p.Thr191Asn, XP_047278256.1:p.Thr205Ile, XP_047278256.1:p.Thr205Asn, NP_001304819.1:p.Thr148Ile, NP_001304819.1:p.Thr148Asn, XP_047278258.1:p.Thr155Ile, XP_047278258.1:p.Thr155Asn, NP_001304820.1:p.Thr57Ile, NP_001304820.1:p.Thr57Asn, XP_016869384.1:p.Thr186Ile, XP_016869384.1:p.Thr186Asn, XP_016869386.1:p.Thr169Ile, XP_016869386.1:p.Thr169Asn, NP_001139632.1:p.Thr155Ile, NP_001139632.1:p.Thr155Asn

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