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Items: 1 to 20 of 711

1.

rs1490210087 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    2:99035392 (GRCh38)
    2:99651855 (GRCh37)
    Canonical SPDI:
    NC_000002.12:99035391:A:G
    Gene:
    TSGA10 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.99035392A>G, NC_000002.11:g.99651855A>G, NM_025244.4:c.1452T>C, NM_025244.3:c.1452T>C, NM_025244.2:c.1452T>C, NM_182911.4:c.1452T>C, NM_182911.3:c.1452T>C, XM_011511935.4:c.1836T>C, XM_011511935.3:c.1836T>C, XM_011511935.2:c.1836T>C, XM_011511935.1:c.1836T>C, XM_017005041.3:c.1452T>C, XM_017005041.2:c.1452T>C, XM_017005041.1:c.1452T>C, XM_006712781.3:c.1452T>C, XM_006712781.2:c.1452T>C, XM_006712781.1:c.1452T>C, XM_017005044.2:c.1452T>C, XM_017005044.1:c.1452T>C, XM_017005035.2:c.2037T>C, XM_017005035.1:c.2037T>C, XM_024453158.2:c.1452T>C, XM_024453158.1:c.1452T>C, XM_005264023.2:c.1452T>C, XM_005264023.1:c.1452T>C, NM_001349013.2:c.1125T>C, NM_001349013.1:c.1125T>C, NR_146001.2:n.2034T>C, NR_146001.1:n.2077T>C, XM_017005046.2:c.1452T>C, XM_017005046.1:c.1452T>C, XM_047445928.1:c.2013T>C, XM_047445930.1:c.2013T>C, XM_047445929.1:c.2013T>C, XM_047445932.1:c.2013T>C, XM_047445931.1:c.2013T>C, XM_047445933.1:c.1452T>C, XM_011511934.1:c.2052T>C, XM_047445934.1:c.1452T>C, NM_001349014.1:c.1125T>C, NM_001349012.1:c.1452T>C, XM_017005037.1:c.2052T>C

    2.

    rs1489695558 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->T [Show Flanks]
      Chromosome:
      2:99068931 (GRCh38)
      2:99685395 (GRCh37)
      Canonical SPDI:
      NC_000002.12:99068931:T:TT
      Gene:
      TSGA10 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,frameshift_variant,genic_downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      TT=0./0 (ALFA)
      T=0.000006/1 (GnomAD_exomes)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000002.12:g.99068932dup, NC_000002.11:g.99685395dup, NM_025244.4:c.1174dup, NM_025244.3:c.1174dup, NM_025244.2:c.1174dup, NM_182911.4:c.1174dup, NM_182911.3:c.1174dup, XM_011511935.4:c.1558dup, XM_011511935.3:c.1558dup, XM_011511935.2:c.1558dup, XM_011511935.1:c.1558dup, XM_017005041.3:c.1174dup, XM_017005041.2:c.1174dup, XM_017005041.1:c.1174dup, XM_006712781.3:c.1174dup, XM_006712781.2:c.1174dup, XM_006712781.1:c.1174dup, XM_017005044.2:c.1174dup, XM_017005044.1:c.1174dup, XM_017005035.2:c.1759dup, XM_017005035.1:c.1759dup, XM_024453158.2:c.1174dup, XM_024453158.1:c.1174dup, XM_005264023.2:c.1174dup, XM_005264023.1:c.1174dup, NM_001349013.2:c.847dup, NM_001349013.1:c.847dup, NR_146001.2:n.1756dup, NR_146001.1:n.1799dup, XM_017005046.2:c.1174dup, XM_017005046.1:c.1174dup, XM_047445928.1:c.1735dup, XM_047445930.1:c.1735dup, XM_047445929.1:c.1735dup, XM_047445932.1:c.1735dup, XM_047445931.1:c.1735dup, XM_047445933.1:c.1174dup, XM_011511934.1:c.1774dup, XM_047445934.1:c.1174dup, NM_001349014.1:c.847dup, NM_001349012.1:c.1174dup, XM_017005037.1:c.1774dup, NP_079520.1:p.Thr392fs, NP_878915.2:p.Thr392fs, XP_011510237.1:p.Thr520fs, XP_016860530.1:p.Thr392fs, XP_006712844.1:p.Thr392fs, XP_016860533.1:p.Thr392fs, XP_016860524.1:p.Thr587fs, XP_024308926.1:p.Thr392fs, XP_005264080.1:p.Thr392fs, NP_001335942.1:p.Thr283fs, XP_016860535.1:p.Thr392fs, XP_047301884.1:p.Thr579fs, XP_047301886.1:p.Thr579fs, XP_047301885.1:p.Thr579fs, XP_047301888.1:p.Thr579fs, XP_047301887.1:p.Thr579fs, XP_047301889.1:p.Thr392fs, XP_011510236.1:p.Thr592fs, XP_047301890.1:p.Thr392fs, NP_001335943.1:p.Thr283fs, NP_001335941.1:p.Thr392fs, XP_016860526.1:p.Thr592fs

      3.

      rs1486794053 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        2:99117757 (GRCh38)
        2:99734220 (GRCh37)
        Canonical SPDI:
        NC_000002.12:99117756:A:G
        Gene:
        TSGA10 (Varview)
        Functional Consequence:
        intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
        Validated:
        by frequency,by alfa
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        HGVS:
        NC_000002.12:g.99117757A>G, NC_000002.11:g.99734220A>G, NM_025244.4:c.-353T>C, NM_025244.3:c.-353T>C, NM_025244.2:c.-353T>C, NM_182911.4:c.-353T>C, NM_182911.3:c.-353T>C, XM_017005041.3:c.-397T>C, XM_017005041.2:c.-397T>C, XM_017005041.1:c.-397T>C, XM_006712781.3:c.-397T>C, XM_006712781.2:c.-397T>C, XM_006712781.1:c.-397T>C, XM_017005044.2:c.-397T>C, XM_017005044.1:c.-397T>C, XM_017005035.2:c.189T>C, XM_017005035.1:c.189T>C, XM_024453158.2:c.-397T>C, XM_024453158.1:c.-397T>C, XM_005264023.2:c.-397T>C, XM_005264023.1:c.-397T>C, NM_001349013.2:c.-387T>C, NM_001349013.1:c.-387T>C, NR_146001.2:n.230T>C, NR_146001.1:n.273T>C, XM_047445928.1:c.165T>C, XM_047445930.1:c.165T>C, XM_047445929.1:c.165T>C, XM_047445932.1:c.165T>C, XM_047445931.1:c.165T>C, XM_047445933.1:c.-397T>C, XM_011511934.1:c.204T>C, XM_047445934.1:c.-397T>C, NM_001349014.1:c.-353T>C, XM_017005037.1:c.204T>C

        4.

        rs1484736264 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          2:99018246 (GRCh38)
          2:99634709 (GRCh37)
          Canonical SPDI:
          NC_000002.12:99018245:C:T
          Gene:
          TSGA10 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          HGVS:
          NC_000002.12:g.99018246C>T, NC_000002.11:g.99634709C>T, NM_025244.4:c.2026G>A, NM_025244.3:c.2026G>A, NM_025244.2:c.2026G>A, NM_182911.4:c.2026G>A, NM_182911.3:c.2026G>A, XM_011511935.4:c.2410G>A, XM_011511935.3:c.2410G>A, XM_011511935.2:c.2410G>A, XM_011511935.1:c.2410G>A, XM_017005041.3:c.2026G>A, XM_017005041.2:c.2026G>A, XM_017005041.1:c.2026G>A, XM_006712781.3:c.2026G>A, XM_006712781.2:c.2026G>A, XM_006712781.1:c.2026G>A, XM_017005044.2:c.2026G>A, XM_017005044.1:c.2026G>A, XM_017005035.2:c.2611G>A, XM_017005035.1:c.2611G>A, XM_024453158.2:c.2026G>A, XM_024453158.1:c.2026G>A, XM_005264023.2:c.2026G>A, XM_005264023.1:c.2026G>A, NM_001349013.2:c.1699G>A, NM_001349013.1:c.1699G>A, NR_146001.2:n.2405G>A, NR_146001.1:n.2448G>A, XM_017005046.2:c.2026G>A, XM_017005046.1:c.2026G>A, XM_047445928.1:c.2587G>A, XM_047445930.1:c.2587G>A, XM_047445929.1:c.2587G>A, XM_047445932.1:c.2587G>A, XM_047445931.1:c.2587G>A, XM_047445933.1:c.2026G>A, XM_011511934.1:c.2626G>A, XM_047445934.1:c.2026G>A, NM_001349014.1:c.1699G>A, NM_001349012.1:c.2026G>A, NP_079520.1:p.Ala676Thr, NP_878915.2:p.Ala676Thr, XP_011510237.1:p.Ala804Thr, XP_016860530.1:p.Ala676Thr, XP_006712844.1:p.Ala676Thr, XP_016860533.1:p.Ala676Thr, XP_016860524.1:p.Ala871Thr, XP_024308926.1:p.Ala676Thr, XP_005264080.1:p.Ala676Thr, NP_001335942.1:p.Ala567Thr, XP_016860535.1:p.Ala676Thr, XP_047301884.1:p.Ala863Thr, XP_047301886.1:p.Ala863Thr, XP_047301885.1:p.Ala863Thr, XP_047301888.1:p.Ala863Thr, XP_047301887.1:p.Ala863Thr, XP_047301889.1:p.Ala676Thr, XP_011510236.1:p.Ala876Thr, XP_047301890.1:p.Ala676Thr, NP_001335943.1:p.Ala567Thr, NP_001335941.1:p.Ala676Thr

          5.

          rs1484381862 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>T [Show Flanks]
            Chromosome:
            2:99064979 (GRCh38)
            2:99681442 (GRCh37)
            Canonical SPDI:
            NC_000002.12:99064978:A:T
            Gene:
            TSGA10 (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,stop_gained,non_coding_transcript_variant,coding_sequence_variant
            HGVS:
            NC_000002.12:g.99064979A>T, NC_000002.11:g.99681442A>T, NM_025244.4:c.1364T>A, NM_025244.3:c.1364T>A, NM_025244.2:c.1364T>A, NM_182911.4:c.1364T>A, NM_182911.3:c.1364T>A, XM_011511935.4:c.1748T>A, XM_011511935.3:c.1748T>A, XM_011511935.2:c.1748T>A, XM_011511935.1:c.1748T>A, XM_017005041.3:c.1364T>A, XM_017005041.2:c.1364T>A, XM_017005041.1:c.1364T>A, XM_006712781.3:c.1364T>A, XM_006712781.2:c.1364T>A, XM_006712781.1:c.1364T>A, XM_017005044.2:c.1364T>A, XM_017005044.1:c.1364T>A, XM_017005035.2:c.1949T>A, XM_017005035.1:c.1949T>A, XM_024453158.2:c.1364T>A, XM_024453158.1:c.1364T>A, XM_005264023.2:c.1364T>A, XM_005264023.1:c.1364T>A, NM_001349013.2:c.1037T>A, NM_001349013.1:c.1037T>A, NR_146001.2:n.1946T>A, NR_146001.1:n.1989T>A, XM_017005046.2:c.1364T>A, XM_017005046.1:c.1364T>A, XM_047445928.1:c.1925T>A, XM_047445930.1:c.1925T>A, XM_047445929.1:c.1925T>A, XM_047445932.1:c.1925T>A, XM_047445931.1:c.1925T>A, XM_047445933.1:c.1364T>A, XM_011511934.1:c.1964T>A, XM_047445934.1:c.1364T>A, NM_001349014.1:c.1037T>A, NM_001349012.1:c.1364T>A, XM_017005037.1:c.1964T>A, NP_079520.1:p.Leu455Ter, NP_878915.2:p.Leu455Ter, XP_011510237.1:p.Leu583Ter, XP_016860530.1:p.Leu455Ter, XP_006712844.1:p.Leu455Ter, XP_016860533.1:p.Leu455Ter, XP_016860524.1:p.Leu650Ter, XP_024308926.1:p.Leu455Ter, XP_005264080.1:p.Leu455Ter, NP_001335942.1:p.Leu346Ter, XP_016860535.1:p.Leu455Ter, XP_047301884.1:p.Leu642Ter, XP_047301886.1:p.Leu642Ter, XP_047301885.1:p.Leu642Ter, XP_047301888.1:p.Leu642Ter, XP_047301887.1:p.Leu642Ter, XP_047301889.1:p.Leu455Ter, XP_011510236.1:p.Leu655Ter, XP_047301890.1:p.Leu455Ter, NP_001335943.1:p.Leu346Ter, NP_001335941.1:p.Leu455Ter, XP_016860526.1:p.Leu655Ter

            6.

            rs1483243341 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              2:99127167 (GRCh38)
              2:99743630 (GRCh37)
              Canonical SPDI:
              NC_000002.12:99127166:T:C
              Gene:
              TSGA10 (Varview)
              Functional Consequence:
              upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              C=0.000008/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.99127167T>C, NC_000002.11:g.99743630T>C, NM_025244.4:c.-611A>G, NM_025244.3:c.-611A>G, NM_025244.2:c.-611A>G, NM_182911.4:c.-475A>G, NM_182911.3:c.-475A>G, XM_011511935.4:c.82A>G, XM_011511935.3:c.82A>G, XM_011511935.2:c.82A>G, XM_011511935.1:c.82A>G, XM_017005041.3:c.-519A>G, XM_017005041.2:c.-519A>G, XM_017005041.1:c.-519A>G, XM_017005035.2:c.67A>G, XM_017005035.1:c.67A>G, XM_005264023.2:c.-519A>G, XM_005264023.1:c.-519A>G, NM_001349013.2:c.-509A>G, NM_001349013.1:c.-509A>G, NR_146001.2:n.108A>G, NR_146001.1:n.151A>G, XM_047445928.1:c.43A>G, XM_047445930.1:c.43A>G, XM_047445929.1:c.43A>G, XM_047445932.1:c.43A>G, XM_047445931.1:c.43A>G, XM_011511934.1:c.82A>G, NM_001349012.1:c.-303A>G, XM_017005037.1:c.82A>G, XP_011510237.1:p.Lys28Glu, XP_016860524.1:p.Lys23Glu, XP_047301884.1:p.Lys15Glu, XP_047301886.1:p.Lys15Glu, XP_047301885.1:p.Lys15Glu, XP_047301888.1:p.Lys15Glu, XP_047301887.1:p.Lys15Glu, XP_011510236.1:p.Lys28Glu, XP_016860526.1:p.Lys28Glu

              7.

              rs1482690220 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                2:99127137 (GRCh38)
                2:99743600 (GRCh37)
                Canonical SPDI:
                NC_000002.12:99127136:C:T
                Gene:
                TSGA10 (Varview)
                Functional Consequence:
                upstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000004/1 (TOPMED)
                T=0.000007/1 (GnomAD)
                T=0.000029/4 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.99127137C>T, NC_000002.11:g.99743600C>T, NM_025244.4:c.-581G>A, NM_025244.3:c.-581G>A, NM_025244.2:c.-581G>A, NM_182911.4:c.-445G>A, NM_182911.3:c.-445G>A, XM_011511935.4:c.112G>A, XM_011511935.3:c.112G>A, XM_011511935.2:c.112G>A, XM_011511935.1:c.112G>A, XM_017005041.3:c.-489G>A, XM_017005041.2:c.-489G>A, XM_017005041.1:c.-489G>A, XM_017005044.2:c.-650G>A, XM_017005044.1:c.-650G>A, XM_017005035.2:c.97G>A, XM_017005035.1:c.97G>A, XM_005264023.2:c.-489G>A, XM_005264023.1:c.-489G>A, NM_001349013.2:c.-479G>A, NM_001349013.1:c.-479G>A, NR_146001.2:n.138G>A, NR_146001.1:n.181G>A, XM_047445928.1:c.73G>A, XM_047445930.1:c.73G>A, XM_047445929.1:c.73G>A, XM_047445932.1:c.73G>A, XM_047445931.1:c.73G>A, XM_011511934.1:c.112G>A, NM_001349012.1:c.-273G>A, XM_017005037.1:c.112G>A, XP_011510237.1:p.Val38Ile, XP_016860524.1:p.Val33Ile, XP_047301884.1:p.Val25Ile, XP_047301886.1:p.Val25Ile, XP_047301885.1:p.Val25Ile, XP_047301888.1:p.Val25Ile, XP_047301887.1:p.Val25Ile, XP_011510236.1:p.Val38Ile, XP_016860526.1:p.Val38Ile

                8.

                rs1481858566 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  2:99105620 (GRCh38)
                  2:99722083 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:99105619:A:G
                  Gene:
                  TSGA10 (Varview)
                  Functional Consequence:
                  genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000002.12:g.99105620A>G, NC_000002.11:g.99722083A>G, NM_025244.4:c.288T>C, NM_025244.3:c.288T>C, NM_025244.2:c.288T>C, NM_182911.4:c.288T>C, NM_182911.3:c.288T>C, XM_011511935.4:c.672T>C, XM_011511935.3:c.672T>C, XM_011511935.2:c.672T>C, XM_011511935.1:c.672T>C, XM_017005041.3:c.288T>C, XM_017005041.2:c.288T>C, XM_017005041.1:c.288T>C, XM_006712781.3:c.288T>C, XM_006712781.2:c.288T>C, XM_006712781.1:c.288T>C, XM_017005044.2:c.288T>C, XM_017005044.1:c.288T>C, XM_017005035.2:c.873T>C, XM_017005035.1:c.873T>C, XM_024453158.2:c.288T>C, XM_024453158.1:c.288T>C, XM_005264023.2:c.288T>C, XM_005264023.1:c.288T>C, NM_001349013.2:c.288T>C, NM_001349013.1:c.288T>C, NR_146001.2:n.870T>C, NR_146001.1:n.913T>C, XM_017005046.2:c.288T>C, XM_017005046.1:c.288T>C, XM_047445928.1:c.849T>C, XM_047445930.1:c.849T>C, XM_047445929.1:c.849T>C, XM_047445932.1:c.849T>C, XM_047445931.1:c.849T>C, XM_047445933.1:c.288T>C, XM_011511934.1:c.888T>C, XM_047445934.1:c.288T>C, NM_001349014.1:c.288T>C, NM_001349012.1:c.288T>C, XM_017005037.1:c.888T>C

                  9.

                  rs1481542629 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    2:99065109 (GRCh38)
                    2:99681572 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:99065108:G:T
                    Gene:
                    TSGA10 (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    T=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000002.12:g.99065109G>T, NC_000002.11:g.99681572G>T, NM_025244.4:c.1234C>A, NM_025244.3:c.1234C>A, NM_025244.2:c.1234C>A, NM_182911.4:c.1234C>A, NM_182911.3:c.1234C>A, XM_011511935.4:c.1618C>A, XM_011511935.3:c.1618C>A, XM_011511935.2:c.1618C>A, XM_011511935.1:c.1618C>A, XM_017005041.3:c.1234C>A, XM_017005041.2:c.1234C>A, XM_017005041.1:c.1234C>A, XM_006712781.3:c.1234C>A, XM_006712781.2:c.1234C>A, XM_006712781.1:c.1234C>A, XM_017005044.2:c.1234C>A, XM_017005044.1:c.1234C>A, XM_017005035.2:c.1819C>A, XM_017005035.1:c.1819C>A, XM_024453158.2:c.1234C>A, XM_024453158.1:c.1234C>A, XM_005264023.2:c.1234C>A, XM_005264023.1:c.1234C>A, NM_001349013.2:c.907C>A, NM_001349013.1:c.907C>A, NR_146001.2:n.1816C>A, NR_146001.1:n.1859C>A, XM_017005046.2:c.1234C>A, XM_017005046.1:c.1234C>A, XM_047445928.1:c.1795C>A, XM_047445930.1:c.1795C>A, XM_047445929.1:c.1795C>A, XM_047445932.1:c.1795C>A, XM_047445931.1:c.1795C>A, XM_047445933.1:c.1234C>A, XM_011511934.1:c.1834C>A, XM_047445934.1:c.1234C>A, NM_001349014.1:c.907C>A, NM_001349012.1:c.1234C>A, XM_017005037.1:c.1834C>A, NP_079520.1:p.Gln412Lys, NP_878915.2:p.Gln412Lys, XP_011510237.1:p.Gln540Lys, XP_016860530.1:p.Gln412Lys, XP_006712844.1:p.Gln412Lys, XP_016860533.1:p.Gln412Lys, XP_016860524.1:p.Gln607Lys, XP_024308926.1:p.Gln412Lys, XP_005264080.1:p.Gln412Lys, NP_001335942.1:p.Gln303Lys, XP_016860535.1:p.Gln412Lys, XP_047301884.1:p.Gln599Lys, XP_047301886.1:p.Gln599Lys, XP_047301885.1:p.Gln599Lys, XP_047301888.1:p.Gln599Lys, XP_047301887.1:p.Gln599Lys, XP_047301889.1:p.Gln412Lys, XP_011510236.1:p.Gln612Lys, XP_047301890.1:p.Gln412Lys, NP_001335943.1:p.Gln303Lys, NP_001335941.1:p.Gln412Lys, XP_016860526.1:p.Gln612Lys

                    10.

                    rs1481241902 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      2:99078722 (GRCh38)
                      2:99695185 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:99078721:C:T
                      Gene:
                      TSGA10 (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0./0 (GnomAD)
                      T=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.99078722C>T, NC_000002.11:g.99695185C>T, NM_025244.4:c.819G>A, NM_025244.3:c.819G>A, NM_025244.2:c.819G>A, NM_182911.4:c.819G>A, NM_182911.3:c.819G>A, XM_011511935.4:c.1203G>A, XM_011511935.3:c.1203G>A, XM_011511935.2:c.1203G>A, XM_011511935.1:c.1203G>A, XM_017005041.3:c.819G>A, XM_017005041.2:c.819G>A, XM_017005041.1:c.819G>A, XM_006712781.3:c.819G>A, XM_006712781.2:c.819G>A, XM_006712781.1:c.819G>A, XM_017005044.2:c.819G>A, XM_017005044.1:c.819G>A, XM_017005035.2:c.1404G>A, XM_017005035.1:c.1404G>A, XM_024453158.2:c.819G>A, XM_024453158.1:c.819G>A, XM_005264023.2:c.819G>A, XM_005264023.1:c.819G>A, NR_146001.2:n.1401G>A, NR_146001.1:n.1444G>A, XM_017005046.2:c.819G>A, XM_017005046.1:c.819G>A, XM_047445928.1:c.1380G>A, XM_047445930.1:c.1380G>A, XM_047445929.1:c.1380G>A, XM_047445932.1:c.1380G>A, XM_047445931.1:c.1380G>A, XM_047445933.1:c.819G>A, XM_011511934.1:c.1419G>A, XM_047445934.1:c.819G>A, NM_001349012.1:c.819G>A, XM_017005037.1:c.1419G>A

                      11.

                      rs1480736731 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:99020339 (GRCh38)
                        2:99636802 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:99020338:T:C
                        Gene:
                        TSGA10 (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_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_000002.12:g.99020339T>C, NC_000002.11:g.99636802T>C, NM_025244.4:c.1758A>G, NM_025244.3:c.1758A>G, NM_025244.2:c.1758A>G, NM_182911.4:c.1758A>G, NM_182911.3:c.1758A>G, XM_011511935.4:c.2142A>G, XM_011511935.3:c.2142A>G, XM_011511935.2:c.2142A>G, XM_011511935.1:c.2142A>G, XM_017005041.3:c.1758A>G, XM_017005041.2:c.1758A>G, XM_017005041.1:c.1758A>G, XM_006712781.3:c.1758A>G, XM_006712781.2:c.1758A>G, XM_006712781.1:c.1758A>G, XM_017005044.2:c.1758A>G, XM_017005044.1:c.1758A>G, XM_017005035.2:c.2343A>G, XM_017005035.1:c.2343A>G, XM_024453158.2:c.1758A>G, XM_024453158.1:c.1758A>G, XM_005264023.2:c.1758A>G, XM_005264023.1:c.1758A>G, NM_001349013.2:c.1431A>G, NM_001349013.1:c.1431A>G, XM_017005046.2:c.1758A>G, XM_017005046.1:c.1758A>G, XM_047445928.1:c.2319A>G, XM_047445930.1:c.2319A>G, XM_047445929.1:c.2319A>G, XM_047445932.1:c.2319A>G, XM_047445931.1:c.2319A>G, XM_047445933.1:c.1758A>G, XM_011511934.1:c.2358A>G, XM_047445934.1:c.1758A>G, NM_001349014.1:c.1431A>G, NM_001349012.1:c.1758A>G

                        12.

                        rs1480616489 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:99065067 (GRCh38)
                          2:99681530 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:99065066:T:C
                          Gene:
                          TSGA10 (Varview)
                          Functional Consequence:
                          genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000012/3 (GnomAD_exomes)
                          C=0.000014/2 (GnomAD)
                          HGVS:
                          NC_000002.12:g.99065067T>C, NC_000002.11:g.99681530T>C, NM_025244.4:c.1276A>G, NM_025244.3:c.1276A>G, NM_025244.2:c.1276A>G, NM_182911.4:c.1276A>G, NM_182911.3:c.1276A>G, XM_011511935.4:c.1660A>G, XM_011511935.3:c.1660A>G, XM_011511935.2:c.1660A>G, XM_011511935.1:c.1660A>G, XM_017005041.3:c.1276A>G, XM_017005041.2:c.1276A>G, XM_017005041.1:c.1276A>G, XM_006712781.3:c.1276A>G, XM_006712781.2:c.1276A>G, XM_006712781.1:c.1276A>G, XM_017005044.2:c.1276A>G, XM_017005044.1:c.1276A>G, XM_017005035.2:c.1861A>G, XM_017005035.1:c.1861A>G, XM_024453158.2:c.1276A>G, XM_024453158.1:c.1276A>G, XM_005264023.2:c.1276A>G, XM_005264023.1:c.1276A>G, NM_001349013.2:c.949A>G, NM_001349013.1:c.949A>G, NR_146001.2:n.1858A>G, NR_146001.1:n.1901A>G, XM_017005046.2:c.1276A>G, XM_017005046.1:c.1276A>G, XM_047445928.1:c.1837A>G, XM_047445930.1:c.1837A>G, XM_047445929.1:c.1837A>G, XM_047445932.1:c.1837A>G, XM_047445931.1:c.1837A>G, XM_047445933.1:c.1276A>G, XM_011511934.1:c.1876A>G, XM_047445934.1:c.1276A>G, NM_001349014.1:c.949A>G, NM_001349012.1:c.1276A>G, XM_017005037.1:c.1876A>G, NP_079520.1:p.Asn426Asp, NP_878915.2:p.Asn426Asp, XP_011510237.1:p.Asn554Asp, XP_016860530.1:p.Asn426Asp, XP_006712844.1:p.Asn426Asp, XP_016860533.1:p.Asn426Asp, XP_016860524.1:p.Asn621Asp, XP_024308926.1:p.Asn426Asp, XP_005264080.1:p.Asn426Asp, NP_001335942.1:p.Asn317Asp, XP_016860535.1:p.Asn426Asp, XP_047301884.1:p.Asn613Asp, XP_047301886.1:p.Asn613Asp, XP_047301885.1:p.Asn613Asp, XP_047301888.1:p.Asn613Asp, XP_047301887.1:p.Asn613Asp, XP_047301889.1:p.Asn426Asp, XP_011510236.1:p.Asn626Asp, XP_047301890.1:p.Asn426Asp, NP_001335943.1:p.Asn317Asp, NP_001335941.1:p.Asn426Asp, XP_016860526.1:p.Asn626Asp

                          13.

                          rs1477316569 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            2:99020323 (GRCh38)
                            2:99636786 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:99020322:TTT:TT
                            Gene:
                            TSGA10 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,intron_variant,frameshift_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            -=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.99020325del, NC_000002.11:g.99636788del, NM_025244.4:c.1774del, NM_025244.3:c.1774del, NM_025244.2:c.1774del, NM_182911.4:c.1774del, NM_182911.3:c.1774del, XM_011511935.4:c.2158del, XM_011511935.3:c.2158del, XM_011511935.2:c.2158del, XM_011511935.1:c.2158del, XM_017005041.3:c.1774del, XM_017005041.2:c.1774del, XM_017005041.1:c.1774del, XM_006712781.3:c.1774del, XM_006712781.2:c.1774del, XM_006712781.1:c.1774del, XM_017005044.2:c.1774del, XM_017005044.1:c.1774del, XM_017005035.2:c.2359del, XM_017005035.1:c.2359del, XM_024453158.2:c.1774del, XM_024453158.1:c.1774del, XM_005264023.2:c.1774del, XM_005264023.1:c.1774del, NM_001349013.2:c.1447del, NM_001349013.1:c.1447del, XM_017005046.2:c.1774del, XM_017005046.1:c.1774del, XM_047445928.1:c.2335del, XM_047445930.1:c.2335del, XM_047445929.1:c.2335del, XM_047445932.1:c.2335del, XM_047445931.1:c.2335del, XM_047445933.1:c.1774del, XM_011511934.1:c.2374del, XM_047445934.1:c.1774del, NM_001349014.1:c.1447del, NM_001349012.1:c.1774del, NP_079520.1:p.Ile592fs, NP_878915.2:p.Ile592fs, XP_011510237.1:p.Ile720fs, XP_016860530.1:p.Ile592fs, XP_006712844.1:p.Ile592fs, XP_016860533.1:p.Ile592fs, XP_016860524.1:p.Ile787fs, XP_024308926.1:p.Ile592fs, XP_005264080.1:p.Ile592fs, NP_001335942.1:p.Ile483fs, XP_016860535.1:p.Ile592fs, XP_047301884.1:p.Ile779fs, XP_047301886.1:p.Ile779fs, XP_047301885.1:p.Ile779fs, XP_047301888.1:p.Ile779fs, XP_047301887.1:p.Ile779fs, XP_047301889.1:p.Ile592fs, XP_011510236.1:p.Ile792fs, XP_047301890.1:p.Ile592fs, NP_001335943.1:p.Ile483fs, NP_001335941.1:p.Ile592fs

                            14.

                            rs1473709701 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>C [Show Flanks]
                              Chromosome:
                              2:99108931 (GRCh38)
                              2:99725394 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:99108930:A:C
                              Gene:
                              TSGA10 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.99108931A>C, NC_000002.11:g.99725394A>C, NM_025244.4:c.112T>G, NM_025244.3:c.112T>G, NM_025244.2:c.112T>G, NM_182911.4:c.112T>G, NM_182911.3:c.112T>G, XM_011511935.4:c.496T>G, XM_011511935.3:c.496T>G, XM_011511935.2:c.496T>G, XM_011511935.1:c.496T>G, XM_017005041.3:c.112T>G, XM_017005041.2:c.112T>G, XM_017005041.1:c.112T>G, XM_006712781.3:c.112T>G, XM_006712781.2:c.112T>G, XM_006712781.1:c.112T>G, XM_017005044.2:c.112T>G, XM_017005044.1:c.112T>G, XM_017005035.2:c.697T>G, XM_017005035.1:c.697T>G, XM_024453158.2:c.112T>G, XM_024453158.1:c.112T>G, XM_005264023.2:c.112T>G, XM_005264023.1:c.112T>G, NM_001349013.2:c.112T>G, NM_001349013.1:c.112T>G, NR_146001.2:n.694T>G, NR_146001.1:n.737T>G, XM_017005046.2:c.112T>G, XM_017005046.1:c.112T>G, XM_047445928.1:c.673T>G, XM_047445930.1:c.673T>G, XM_047445929.1:c.673T>G, XM_047445932.1:c.673T>G, XM_047445931.1:c.673T>G, XM_047445933.1:c.112T>G, XM_011511934.1:c.712T>G, XM_047445934.1:c.112T>G, NM_001349014.1:c.112T>G, NM_001349012.1:c.112T>G, XM_017005037.1:c.712T>G, NP_079520.1:p.Cys38Gly, NP_878915.2:p.Cys38Gly, XP_011510237.1:p.Cys166Gly, XP_016860530.1:p.Cys38Gly, XP_006712844.1:p.Cys38Gly, XP_016860533.1:p.Cys38Gly, XP_016860524.1:p.Cys233Gly, XP_024308926.1:p.Cys38Gly, XP_005264080.1:p.Cys38Gly, NP_001335942.1:p.Cys38Gly, XP_016860535.1:p.Cys38Gly, XP_047301884.1:p.Cys225Gly, XP_047301886.1:p.Cys225Gly, XP_047301885.1:p.Cys225Gly, XP_047301888.1:p.Cys225Gly, XP_047301887.1:p.Cys225Gly, XP_047301889.1:p.Cys38Gly, XP_011510236.1:p.Cys238Gly, XP_047301890.1:p.Cys38Gly, NP_001335943.1:p.Cys38Gly, NP_001335941.1:p.Cys38Gly, XP_016860526.1:p.Cys238Gly

                              15.

                              rs1469604597 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                2:99071757 (GRCh38)
                                2:99688220 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:99071756:A:G
                                Gene:
                                TSGA10 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000002.12:g.99071757A>G, NC_000002.11:g.99688220A>G, NM_025244.4:c.1056T>C, NM_025244.3:c.1056T>C, NM_025244.2:c.1056T>C, NM_182911.4:c.1056T>C, NM_182911.3:c.1056T>C, XM_011511935.4:c.1440T>C, XM_011511935.3:c.1440T>C, XM_011511935.2:c.1440T>C, XM_011511935.1:c.1440T>C, XM_017005041.3:c.1056T>C, XM_017005041.2:c.1056T>C, XM_017005041.1:c.1056T>C, XM_006712781.3:c.1056T>C, XM_006712781.2:c.1056T>C, XM_006712781.1:c.1056T>C, XM_017005044.2:c.1056T>C, XM_017005044.1:c.1056T>C, XM_017005035.2:c.1641T>C, XM_017005035.1:c.1641T>C, XM_024453158.2:c.1056T>C, XM_024453158.1:c.1056T>C, XM_005264023.2:c.1056T>C, XM_005264023.1:c.1056T>C, NM_001349013.2:c.729T>C, NM_001349013.1:c.729T>C, NR_146001.2:n.1638T>C, NR_146001.1:n.1681T>C, XM_017005046.2:c.1056T>C, XM_017005046.1:c.1056T>C, XM_047445928.1:c.1617T>C, XM_047445930.1:c.1617T>C, XM_047445929.1:c.1617T>C, XM_047445932.1:c.1617T>C, XM_047445931.1:c.1617T>C, XM_047445933.1:c.1056T>C, XM_011511934.1:c.1656T>C, XM_047445934.1:c.1056T>C, NM_001349014.1:c.729T>C, NM_001349012.1:c.1056T>C, XM_017005037.1:c.1656T>C

                                16.

                                rs1468448775 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  2:99117585 (GRCh38)
                                  2:99734048 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:99117584:A:G
                                  Gene:
                                  TSGA10 (Varview)
                                  Functional Consequence:
                                  missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000002.12:g.99117585A>G, NC_000002.11:g.99734048A>G, NM_025244.4:c.-181T>C, NM_025244.3:c.-181T>C, NM_025244.2:c.-181T>C, NM_182911.4:c.-181T>C, NM_182911.3:c.-181T>C, XM_017005041.3:c.-225T>C, XM_017005041.2:c.-225T>C, XM_017005041.1:c.-225T>C, XM_006712781.3:c.-225T>C, XM_006712781.2:c.-225T>C, XM_006712781.1:c.-225T>C, XM_017005044.2:c.-225T>C, XM_017005044.1:c.-225T>C, XM_017005035.2:c.361T>C, XM_017005035.1:c.361T>C, XM_024453158.2:c.-225T>C, XM_024453158.1:c.-225T>C, XM_005264023.2:c.-225T>C, XM_005264023.1:c.-225T>C, NM_001349013.2:c.-215T>C, NM_001349013.1:c.-215T>C, NR_146001.2:n.402T>C, NR_146001.1:n.445T>C, XM_047445928.1:c.337T>C, XM_047445930.1:c.337T>C, XM_047445929.1:c.337T>C, XM_047445932.1:c.337T>C, XM_047445931.1:c.337T>C, XM_047445933.1:c.-225T>C, XM_011511934.1:c.376T>C, XM_047445934.1:c.-225T>C, NM_001349014.1:c.-181T>C, XM_017005037.1:c.376T>C, XP_016860524.1:p.Phe121Leu, XP_047301884.1:p.Phe113Leu, XP_047301886.1:p.Phe113Leu, XP_047301885.1:p.Phe113Leu, XP_047301888.1:p.Phe113Leu, XP_047301887.1:p.Phe113Leu, XP_011510236.1:p.Phe126Leu, XP_016860526.1:p.Phe126Leu

                                  17.

                                  rs1468033067 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    2:99065103 (GRCh38)
                                    2:99681566 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:99065102:T:C
                                    Gene:
                                    TSGA10 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.99065103T>C, NC_000002.11:g.99681566T>C, NM_025244.4:c.1240A>G, NM_025244.3:c.1240A>G, NM_025244.2:c.1240A>G, NM_182911.4:c.1240A>G, NM_182911.3:c.1240A>G, XM_011511935.4:c.1624A>G, XM_011511935.3:c.1624A>G, XM_011511935.2:c.1624A>G, XM_011511935.1:c.1624A>G, XM_017005041.3:c.1240A>G, XM_017005041.2:c.1240A>G, XM_017005041.1:c.1240A>G, XM_006712781.3:c.1240A>G, XM_006712781.2:c.1240A>G, XM_006712781.1:c.1240A>G, XM_017005044.2:c.1240A>G, XM_017005044.1:c.1240A>G, XM_017005035.2:c.1825A>G, XM_017005035.1:c.1825A>G, XM_024453158.2:c.1240A>G, XM_024453158.1:c.1240A>G, XM_005264023.2:c.1240A>G, XM_005264023.1:c.1240A>G, NM_001349013.2:c.913A>G, NM_001349013.1:c.913A>G, NR_146001.2:n.1822A>G, NR_146001.1:n.1865A>G, XM_017005046.2:c.1240A>G, XM_017005046.1:c.1240A>G, XM_047445928.1:c.1801A>G, XM_047445930.1:c.1801A>G, XM_047445929.1:c.1801A>G, XM_047445932.1:c.1801A>G, XM_047445931.1:c.1801A>G, XM_047445933.1:c.1240A>G, XM_011511934.1:c.1840A>G, XM_047445934.1:c.1240A>G, NM_001349014.1:c.913A>G, NM_001349012.1:c.1240A>G, XM_017005037.1:c.1840A>G, NP_079520.1:p.Met414Val, NP_878915.2:p.Met414Val, XP_011510237.1:p.Met542Val, XP_016860530.1:p.Met414Val, XP_006712844.1:p.Met414Val, XP_016860533.1:p.Met414Val, XP_016860524.1:p.Met609Val, XP_024308926.1:p.Met414Val, XP_005264080.1:p.Met414Val, NP_001335942.1:p.Met305Val, XP_016860535.1:p.Met414Val, XP_047301884.1:p.Met601Val, XP_047301886.1:p.Met601Val, XP_047301885.1:p.Met601Val, XP_047301888.1:p.Met601Val, XP_047301887.1:p.Met601Val, XP_047301889.1:p.Met414Val, XP_011510236.1:p.Met614Val, XP_047301890.1:p.Met414Val, NP_001335943.1:p.Met305Val, NP_001335941.1:p.Met414Val, XP_016860526.1:p.Met614Val

                                    18.

                                    rs1467629981 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:99127080 (GRCh38)
                                      2:99743543 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:99127079:G:A
                                      Gene:
                                      TSGA10 (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant,intron_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      A=0.000007/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.99127080G>A, NC_000002.11:g.99743543G>A, NM_025244.4:c.-524C>T, NM_025244.3:c.-524C>T, NM_025244.2:c.-524C>T, NM_182911.4:c.-388C>T, NM_182911.3:c.-388C>T, XM_011511935.4:c.169C>T, XM_011511935.3:c.169C>T, XM_011511935.2:c.169C>T, XM_011511935.1:c.169C>T, XM_017005041.3:c.-432C>T, XM_017005041.2:c.-432C>T, XM_017005041.1:c.-432C>T, XM_006712781.3:c.-625C>T, XM_006712781.2:c.-625C>T, XM_006712781.1:c.-625C>T, XM_017005044.2:c.-593C>T, XM_017005044.1:c.-593C>T, XM_017005035.2:c.154C>T, XM_017005035.1:c.154C>T, XM_024453158.2:c.-568C>T, XM_024453158.1:c.-568C>T, XM_005264023.2:c.-432C>T, XM_005264023.1:c.-432C>T, NM_001349013.2:c.-422C>T, NM_001349013.1:c.-422C>T, NR_146001.2:n.195C>T, NR_146001.1:n.238C>T, XM_047445928.1:c.130C>T, XM_047445930.1:c.130C>T, XM_047445929.1:c.130C>T, XM_047445932.1:c.130C>T, XM_047445931.1:c.130C>T, XM_011511934.1:c.169C>T, NM_001349012.1:c.-216C>T, XM_017005037.1:c.169C>T, XP_011510237.1:p.Gln57Ter, XP_016860524.1:p.Gln52Ter, XP_047301884.1:p.Gln44Ter, XP_047301886.1:p.Gln44Ter, XP_047301885.1:p.Gln44Ter, XP_047301888.1:p.Gln44Ter, XP_047301887.1:p.Gln44Ter, XP_011510236.1:p.Gln57Ter, XP_016860526.1:p.Gln57Ter

                                      19.

                                      rs1466369900 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        2:98998200 (GRCh38)
                                        2:99614663 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:98998199:G:A
                                        Gene:
                                        TSGA10 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000002.12:g.98998200G>A, NC_000002.11:g.99614663G>A, NM_025244.4:c.2094C>T, NM_025244.3:c.2094C>T, NM_025244.2:c.2094C>T, NM_182911.4:c.2094C>T, NM_182911.3:c.2094C>T, XM_011511935.4:c.2478C>T, XM_011511935.3:c.2478C>T, XM_011511935.2:c.2478C>T, XM_011511935.1:c.2478C>T, XM_017005041.3:c.2094C>T, XM_017005041.2:c.2094C>T, XM_017005041.1:c.2094C>T, XM_006712781.3:c.2094C>T, XM_006712781.2:c.2094C>T, XM_006712781.1:c.2094C>T, XM_017005044.2:c.2094C>T, XM_017005044.1:c.2094C>T, XM_017005035.2:c.2679C>T, XM_017005035.1:c.2679C>T, XM_024453158.2:c.2094C>T, XM_024453158.1:c.2094C>T, XM_005264023.2:c.2094C>T, XM_005264023.1:c.2094C>T, NM_001349013.2:c.1767C>T, NM_001349013.1:c.1767C>T, NR_146001.2:n.2473C>T, NR_146001.1:n.2516C>T, XM_017005046.2:c.2094C>T, XM_017005046.1:c.2094C>T, XM_047445928.1:c.2655C>T, XM_047445930.1:c.2655C>T, XM_047445929.1:c.2655C>T, XM_047445932.1:c.2655C>T, XM_047445931.1:c.2655C>T, XM_047445933.1:c.2094C>T, XM_011511934.1:c.2694C>T, XM_047445934.1:c.2094C>T, NM_001349014.1:c.1767C>T, NM_001349012.1:c.2094C>T

                                        20.

                                        rs1464264799 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          2:99081387 (GRCh38)
                                          2:99697850 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:99081386:C:T
                                          Gene:
                                          TSGA10 (Varview)
                                          Functional Consequence:
                                          missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000002.12:g.99081387C>T, NC_000002.11:g.99697850C>T, NM_025244.4:c.622G>A, NM_025244.3:c.622G>A, NM_025244.2:c.622G>A, NM_182911.4:c.622G>A, NM_182911.3:c.622G>A, XM_011511935.4:c.1006G>A, XM_011511935.3:c.1006G>A, XM_011511935.2:c.1006G>A, XM_011511935.1:c.1006G>A, XM_017005041.3:c.622G>A, XM_017005041.2:c.622G>A, XM_017005041.1:c.622G>A, XM_006712781.3:c.622G>A, XM_006712781.2:c.622G>A, XM_006712781.1:c.622G>A, XM_017005044.2:c.622G>A, XM_017005044.1:c.622G>A, XM_017005035.2:c.1207G>A, XM_017005035.1:c.1207G>A, XM_024453158.2:c.622G>A, XM_024453158.1:c.622G>A, XM_005264023.2:c.622G>A, XM_005264023.1:c.622G>A, NR_146001.2:n.1204G>A, NR_146001.1:n.1247G>A, XM_017005046.2:c.622G>A, XM_017005046.1:c.622G>A, XM_047445928.1:c.1183G>A, XM_047445930.1:c.1183G>A, XM_047445929.1:c.1183G>A, XM_047445932.1:c.1183G>A, XM_047445931.1:c.1183G>A, XM_047445933.1:c.622G>A, XM_011511934.1:c.1222G>A, XM_047445934.1:c.622G>A, NM_001349012.1:c.622G>A, XM_017005037.1:c.1222G>A, NP_079520.1:p.Glu208Lys, NP_878915.2:p.Glu208Lys, XP_011510237.1:p.Glu336Lys, XP_016860530.1:p.Glu208Lys, XP_006712844.1:p.Glu208Lys, XP_016860533.1:p.Glu208Lys, XP_016860524.1:p.Glu403Lys, XP_024308926.1:p.Glu208Lys, XP_005264080.1:p.Glu208Lys, XP_016860535.1:p.Glu208Lys, XP_047301884.1:p.Glu395Lys, XP_047301886.1:p.Glu395Lys, XP_047301885.1:p.Glu395Lys, XP_047301888.1:p.Glu395Lys, XP_047301887.1:p.Glu395Lys, XP_047301889.1:p.Glu208Lys, XP_011510236.1:p.Glu408Lys, XP_047301890.1:p.Glu208Lys, NP_001335941.1:p.Glu208Lys, XP_016860526.1:p.Glu408Lys

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