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Items: 1 to 20 of 928

1.

rs1489729783 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A [Show Flanks]
    Chromosome:
    17:7945923 (GRCh38)
    17:7849241 (GRCh37)
    Canonical SPDI:
    NC_000017.11:7945922:T:A
    Gene:
    CNTROB (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0./0 (ALFA)
    HGVS:
    NC_000017.11:g.7945923T>A, NC_000017.10:g.7849241T>A, NG_029754.1:g.18794T>A, NM_001037144.7:c.1930T>A, NM_001037144.6:c.1930T>A, NM_001037144.5:c.1930T>A, NM_053051.5:c.1930T>A, NM_053051.4:c.1930T>A, NM_053051.3:c.1930T>A, NM_001330124.3:c.1930T>A, NM_001330124.2:c.1930T>A, NM_001330124.1:c.1930T>A, NM_001353205.2:c.1663T>A, NM_001353205.1:c.1663T>A, NM_001353204.2:c.1372T>A, NM_001353204.1:c.1372T>A, NM_001353202.2:c.1930T>A, NM_001353202.1:c.1930T>A, NM_001353208.2:c.1930T>A, NM_001353208.1:c.1930T>A, NM_001353203.2:c.1930T>A, NM_001353203.1:c.1930T>A, NM_001353206.2:c.1930T>A, NM_001353206.1:c.1930T>A, NM_001353209.1:c.1930T>A, NM_001353207.1:c.1930T>A, XM_005256438.4:c.1930T>A, XM_005256438.3:c.1930T>A, XM_005256438.2:c.1930T>A, XM_005256438.1:c.1930T>A, XM_017024134.3:c.1930T>A, XM_017024134.2:c.1930T>A, XM_017024134.1:c.1930T>A, XM_017024137.3:c.1663T>A, XM_017024137.2:c.1663T>A, XM_017024137.1:c.1663T>A, XM_017024135.2:c.1663T>A, XM_017024135.1:c.1663T>A, XM_017024128.2:c.1930T>A, XM_017024128.1:c.1930T>A, XM_017024129.2:c.1930T>A, XM_017024129.1:c.1930T>A, XM_017024141.2:c.1930T>A, XM_017024141.1:c.1930T>A, XM_017024138.2:c.1372T>A, XM_017024138.1:c.1372T>A, XM_017024143.2:c.1066T>A, XM_017024143.1:c.1066T>A, XM_047435305.1:c.1930T>A, XM_047435302.1:c.1930T>A, XM_047435303.1:c.1930T>A, XM_047435304.1:c.1930T>A, NP_001032221.1:p.Ser644Thr, NP_444279.2:p.Ser644Thr, NP_001317053.1:p.Ser644Thr, NP_001340134.1:p.Ser555Thr, NP_001340133.1:p.Ser458Thr, NP_001340131.1:p.Ser644Thr, NP_001340137.1:p.Ser644Thr, NP_001340132.1:p.Ser644Thr, NP_001340135.1:p.Ser644Thr, NP_001340138.1:p.Ser644Thr, NP_001340136.1:p.Ser644Thr, XP_005256495.1:p.Ser644Thr, XP_016879623.1:p.Ser644Thr, XP_016879626.1:p.Ser555Thr, XP_016879624.1:p.Ser555Thr, XP_016879617.1:p.Ser644Thr, XP_016879618.1:p.Ser644Thr, XP_016879630.1:p.Ser644Thr, XP_016879627.1:p.Ser458Thr, XP_016879632.1:p.Ser356Thr, XP_047291261.1:p.Ser644Thr, XP_047291258.1:p.Ser644Thr, XP_047291259.1:p.Ser644Thr, XP_047291260.1:p.Ser644Thr

    2.

    rs1489608171 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      17:7948519 (GRCh38)
      17:7851837 (GRCh37)
      Canonical SPDI:
      NC_000017.11:7948518:A:G
      Gene:
      CNTROB (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000017.11:g.7948519A>G, NC_000017.10:g.7851837A>G, NG_029754.1:g.21390A>G, NM_001037144.7:c.2413A>G, NM_001037144.6:c.2413A>G, NM_001037144.5:c.2413A>G, NM_053051.5:c.2413A>G, NM_053051.4:c.2413A>G, NM_053051.3:c.2413A>G, NM_001330124.3:c.2413A>G, NM_001330124.2:c.2413A>G, NM_001330124.1:c.2413A>G, NM_001353205.2:c.2146A>G, NM_001353205.1:c.2146A>G, NM_001353204.2:c.1855A>G, NM_001353204.1:c.1855A>G, NM_001353202.2:c.2413A>G, NM_001353202.1:c.2413A>G, NM_001353208.2:c.2413A>G, NM_001353208.1:c.2413A>G, NM_001353203.2:c.2413A>G, NM_001353203.1:c.2413A>G, NM_001353206.2:c.2413A>G, NM_001353206.1:c.2413A>G, NM_001353209.1:c.2413A>G, NM_001353207.1:c.2413A>G, XM_005256438.4:c.2413A>G, XM_005256438.3:c.2413A>G, XM_005256438.2:c.2413A>G, XM_005256438.1:c.2413A>G, XM_017024134.3:c.2413A>G, XM_017024134.2:c.2413A>G, XM_017024134.1:c.2413A>G, XM_017024137.3:c.2146A>G, XM_017024137.2:c.2146A>G, XM_017024137.1:c.2146A>G, XM_017024135.2:c.2146A>G, XM_017024135.1:c.2146A>G, XM_017024128.2:c.2413A>G, XM_017024128.1:c.2413A>G, XM_017024129.2:c.2413A>G, XM_017024129.1:c.2413A>G, XM_017024138.2:c.1855A>G, XM_017024138.1:c.1855A>G, XM_017024143.2:c.1549A>G, XM_017024143.1:c.1549A>G, XM_047435305.1:c.2413A>G, XM_047435302.1:c.2413A>G, XM_047435303.1:c.2413A>G, XM_047435304.1:c.2413A>G, NP_001032221.1:p.Met805Val, NP_444279.2:p.Met805Val, NP_001317053.1:p.Met805Val, NP_001340134.1:p.Met716Val, NP_001340133.1:p.Met619Val, NP_001340131.1:p.Met805Val, NP_001340137.1:p.Met805Val, NP_001340132.1:p.Met805Val, NP_001340135.1:p.Met805Val, NP_001340138.1:p.Met805Val, NP_001340136.1:p.Met805Val, XP_005256495.1:p.Met805Val, XP_016879623.1:p.Met805Val, XP_016879626.1:p.Met716Val, XP_016879624.1:p.Met716Val, XP_016879617.1:p.Met805Val, XP_016879618.1:p.Met805Val, XP_016879627.1:p.Met619Val, XP_016879632.1:p.Met517Val, XP_047291261.1:p.Met805Val, XP_047291258.1:p.Met805Val, XP_047291259.1:p.Met805Val, XP_047291260.1:p.Met805Val

      3.

      rs1488543242 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        17:7936424 (GRCh38)
        17:7839742 (GRCh37)
        Canonical SPDI:
        NC_000017.11:7936423:T:C
        Gene:
        CNTROB (Varview)
        Functional Consequence:
        upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000017.11:g.7936424T>C, NC_000017.10:g.7839742T>C, NG_029754.1:g.9295T>C, NM_001037144.7:c.653T>C, NM_001037144.6:c.653T>C, NM_001037144.5:c.653T>C, NM_053051.5:c.653T>C, NM_053051.4:c.653T>C, NM_053051.3:c.653T>C, NM_001330124.3:c.653T>C, NM_001330124.2:c.653T>C, NM_001330124.1:c.653T>C, NM_001353205.2:c.386T>C, NM_001353205.1:c.386T>C, NM_001353204.2:c.95T>C, NM_001353204.1:c.95T>C, NM_001353202.2:c.653T>C, NM_001353202.1:c.653T>C, NM_001353208.2:c.653T>C, NM_001353208.1:c.653T>C, NM_001353203.2:c.653T>C, NM_001353203.1:c.653T>C, NM_001353206.2:c.653T>C, NM_001353206.1:c.653T>C, NM_001353209.1:c.653T>C, NM_001353207.1:c.653T>C, XM_005256438.4:c.653T>C, XM_005256438.3:c.653T>C, XM_005256438.2:c.653T>C, XM_005256438.1:c.653T>C, XM_017024134.3:c.653T>C, XM_017024134.2:c.653T>C, XM_017024134.1:c.653T>C, XM_017024137.3:c.386T>C, XM_017024137.2:c.386T>C, XM_017024137.1:c.386T>C, XM_017024135.2:c.386T>C, XM_017024135.1:c.386T>C, XM_017024128.2:c.653T>C, XM_017024128.1:c.653T>C, XM_017024129.2:c.653T>C, XM_017024129.1:c.653T>C, XM_017024141.2:c.653T>C, XM_017024141.1:c.653T>C, XM_017024138.2:c.95T>C, XM_017024138.1:c.95T>C, XM_047435305.1:c.653T>C, XM_047435302.1:c.653T>C, XM_047435303.1:c.653T>C, XM_047435304.1:c.653T>C, NP_001032221.1:p.Leu218Ser, NP_444279.2:p.Leu218Ser, NP_001317053.1:p.Leu218Ser, NP_001340134.1:p.Leu129Ser, NP_001340133.1:p.Leu32Ser, NP_001340131.1:p.Leu218Ser, NP_001340137.1:p.Leu218Ser, NP_001340132.1:p.Leu218Ser, NP_001340135.1:p.Leu218Ser, NP_001340138.1:p.Leu218Ser, NP_001340136.1:p.Leu218Ser, XP_005256495.1:p.Leu218Ser, XP_016879623.1:p.Leu218Ser, XP_016879626.1:p.Leu129Ser, XP_016879624.1:p.Leu129Ser, XP_016879617.1:p.Leu218Ser, XP_016879618.1:p.Leu218Ser, XP_016879630.1:p.Leu218Ser, XP_016879627.1:p.Leu32Ser, XP_047291261.1:p.Leu218Ser, XP_047291258.1:p.Leu218Ser, XP_047291259.1:p.Leu218Ser, XP_047291260.1:p.Leu218Ser

        4.

        rs1487956424 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          C>- [Show Flanks]
          Chromosome:
          17:7936366 (GRCh38)
          17:7839684 (GRCh37)
          Canonical SPDI:
          NC_000017.11:7936365:C:
          Gene:
          CNTROB (Varview)
          Functional Consequence:
          upstream_transcript_variant,genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000017.11:g.7936366del, NC_000017.10:g.7839684del, NG_029754.1:g.9237del, NM_001037144.7:c.595del, NM_001037144.6:c.595del, NM_001037144.5:c.595del, NM_053051.5:c.595del, NM_053051.4:c.595del, NM_053051.3:c.595del, NM_001330124.3:c.595del, NM_001330124.2:c.595del, NM_001330124.1:c.595del, NM_001353205.2:c.328del, NM_001353205.1:c.328del, NM_001353204.2:c.37del, NM_001353204.1:c.37del, NM_001353202.2:c.595del, NM_001353202.1:c.595del, NM_001353208.2:c.595del, NM_001353208.1:c.595del, NM_001353203.2:c.595del, NM_001353203.1:c.595del, NM_001353206.2:c.595del, NM_001353206.1:c.595del, NM_001353209.1:c.595del, NM_001353207.1:c.595del, XM_005256438.4:c.595del, XM_005256438.3:c.595del, XM_005256438.2:c.595del, XM_005256438.1:c.595del, XM_017024134.3:c.595del, XM_017024134.2:c.595del, XM_017024134.1:c.595del, XM_017024137.3:c.328del, XM_017024137.2:c.328del, XM_017024137.1:c.328del, XM_017024135.2:c.328del, XM_017024135.1:c.328del, XM_017024128.2:c.595del, XM_017024128.1:c.595del, XM_017024129.2:c.595del, XM_017024129.1:c.595del, XM_017024141.2:c.595del, XM_017024141.1:c.595del, XM_017024138.2:c.37del, XM_017024138.1:c.37del, XM_047435305.1:c.595del, XM_047435302.1:c.595del, XM_047435303.1:c.595del, XM_047435304.1:c.595del, NP_001032221.1:p.His199fs, NP_444279.2:p.His199fs, NP_001317053.1:p.His199fs, NP_001340134.1:p.His110fs, NP_001340133.1:p.His13fs, NP_001340131.1:p.His199fs, NP_001340137.1:p.His199fs, NP_001340132.1:p.His199fs, NP_001340135.1:p.His199fs, NP_001340138.1:p.His199fs, NP_001340136.1:p.His199fs, XP_005256495.1:p.His199fs, XP_016879623.1:p.His199fs, XP_016879626.1:p.His110fs, XP_016879624.1:p.His110fs, XP_016879617.1:p.His199fs, XP_016879618.1:p.His199fs, XP_016879630.1:p.His199fs, XP_016879627.1:p.His13fs, XP_047291261.1:p.His199fs, XP_047291258.1:p.His199fs, XP_047291259.1:p.His199fs, XP_047291260.1:p.His199fs

          5.

          rs1487382813 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            17:7948529 (GRCh38)
            17:7851847 (GRCh37)
            Canonical SPDI:
            NC_000017.11:7948528:C:T
            Gene:
            CNTROB (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,coding_sequence_variant,missense_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:
            NC_000017.11:g.7948529C>T, NC_000017.10:g.7851847C>T, NG_029754.1:g.21400C>T, NM_001037144.7:c.2423C>T, NM_001037144.6:c.2423C>T, NM_001037144.5:c.2423C>T, NM_053051.5:c.2423C>T, NM_053051.4:c.2423C>T, NM_053051.3:c.2423C>T, NM_001330124.3:c.2423C>T, NM_001330124.2:c.2423C>T, NM_001330124.1:c.2423C>T, NM_001353205.2:c.2156C>T, NM_001353205.1:c.2156C>T, NM_001353204.2:c.1865C>T, NM_001353204.1:c.1865C>T, NM_001353202.2:c.2423C>T, NM_001353202.1:c.2423C>T, NM_001353208.2:c.2423C>T, NM_001353208.1:c.2423C>T, NM_001353203.2:c.2423C>T, NM_001353203.1:c.2423C>T, NM_001353206.2:c.2423C>T, NM_001353206.1:c.2423C>T, NM_001353209.1:c.2423C>T, NM_001353207.1:c.2423C>T, XM_005256438.4:c.2423C>T, XM_005256438.3:c.2423C>T, XM_005256438.2:c.2423C>T, XM_005256438.1:c.2423C>T, XM_017024134.3:c.2423C>T, XM_017024134.2:c.2423C>T, XM_017024134.1:c.2423C>T, XM_017024137.3:c.2156C>T, XM_017024137.2:c.2156C>T, XM_017024137.1:c.2156C>T, XM_017024135.2:c.2156C>T, XM_017024135.1:c.2156C>T, XM_017024128.2:c.2423C>T, XM_017024128.1:c.2423C>T, XM_017024129.2:c.2423C>T, XM_017024129.1:c.2423C>T, XM_017024138.2:c.1865C>T, XM_017024138.1:c.1865C>T, XM_017024143.2:c.1559C>T, XM_017024143.1:c.1559C>T, XM_047435305.1:c.2423C>T, XM_047435302.1:c.2423C>T, XM_047435303.1:c.2423C>T, XM_047435304.1:c.2423C>T, NP_001032221.1:p.Ser808Phe, NP_444279.2:p.Ser808Phe, NP_001317053.1:p.Ser808Phe, NP_001340134.1:p.Ser719Phe, NP_001340133.1:p.Ser622Phe, NP_001340131.1:p.Ser808Phe, NP_001340137.1:p.Ser808Phe, NP_001340132.1:p.Ser808Phe, NP_001340135.1:p.Ser808Phe, NP_001340138.1:p.Ser808Phe, NP_001340136.1:p.Ser808Phe, XP_005256495.1:p.Ser808Phe, XP_016879623.1:p.Ser808Phe, XP_016879626.1:p.Ser719Phe, XP_016879624.1:p.Ser719Phe, XP_016879617.1:p.Ser808Phe, XP_016879618.1:p.Ser808Phe, XP_016879627.1:p.Ser622Phe, XP_016879632.1:p.Ser520Phe, XP_047291261.1:p.Ser808Phe, XP_047291258.1:p.Ser808Phe, XP_047291259.1:p.Ser808Phe, XP_047291260.1:p.Ser808Phe

            6.

            rs1486313970 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              17:7948570 (GRCh38)
              17:7851888 (GRCh37)
              Canonical SPDI:
              NC_000017.11:7948569:C:T
              Gene:
              CNTROB (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000007/1 (GnomAD)
              HGVS:
              NC_000017.11:g.7948570C>T, NC_000017.10:g.7851888C>T, NG_029754.1:g.21441C>T, NM_001037144.7:c.2464C>T, NM_001037144.6:c.2464C>T, NM_001037144.5:c.2464C>T, NM_053051.5:c.2464C>T, NM_053051.4:c.2464C>T, NM_053051.3:c.2464C>T, NM_001330124.3:c.2464C>T, NM_001330124.2:c.2464C>T, NM_001330124.1:c.2464C>T, NM_001353205.2:c.2197C>T, NM_001353205.1:c.2197C>T, NM_001353204.2:c.1906C>T, NM_001353204.1:c.1906C>T, NM_001353202.2:c.2464C>T, NM_001353202.1:c.2464C>T, NM_001353208.2:c.2464C>T, NM_001353208.1:c.2464C>T, NM_001353203.2:c.2464C>T, NM_001353203.1:c.2464C>T, NM_001353206.2:c.2464C>T, NM_001353206.1:c.2464C>T, NM_001353209.1:c.2464C>T, NM_001353207.1:c.2464C>T, XM_005256438.4:c.2464C>T, XM_005256438.3:c.2464C>T, XM_005256438.2:c.2464C>T, XM_005256438.1:c.2464C>T, XM_017024134.3:c.2464C>T, XM_017024134.2:c.2464C>T, XM_017024134.1:c.2464C>T, XM_017024137.3:c.2197C>T, XM_017024137.2:c.2197C>T, XM_017024137.1:c.2197C>T, XM_017024135.2:c.2197C>T, XM_017024135.1:c.2197C>T, XM_017024128.2:c.2464C>T, XM_017024128.1:c.2464C>T, XM_017024129.2:c.2464C>T, XM_017024129.1:c.2464C>T, XM_017024138.2:c.1906C>T, XM_017024138.1:c.1906C>T, XM_017024143.2:c.1600C>T, XM_017024143.1:c.1600C>T, XM_047435305.1:c.2464C>T, XM_047435302.1:c.2464C>T, XM_047435303.1:c.2464C>T, XM_047435304.1:c.2464C>T

              7.

              rs1485430579 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                17:7947640 (GRCh38)
                17:7850958 (GRCh37)
                Canonical SPDI:
                NC_000017.11:7947639:A:G
                Gene:
                CNTROB (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000017.11:g.7947640A>G, NC_000017.10:g.7850958A>G, NG_029754.1:g.20511A>G, NM_001037144.7:c.2063A>G, NM_001037144.6:c.2063A>G, NM_001037144.5:c.2063A>G, NM_053051.5:c.2063A>G, NM_053051.4:c.2063A>G, NM_053051.3:c.2063A>G, NM_001330124.3:c.2063A>G, NM_001330124.2:c.2063A>G, NM_001330124.1:c.2063A>G, NM_001353205.2:c.1796A>G, NM_001353205.1:c.1796A>G, NM_001353204.2:c.1505A>G, NM_001353204.1:c.1505A>G, NM_001353202.2:c.2063A>G, NM_001353202.1:c.2063A>G, NM_001353208.2:c.2063A>G, NM_001353208.1:c.2063A>G, NM_001353203.2:c.2063A>G, NM_001353203.1:c.2063A>G, NM_001353206.2:c.2063A>G, NM_001353206.1:c.2063A>G, NM_001353209.1:c.2063A>G, NM_001353207.1:c.2063A>G, XM_005256438.4:c.2063A>G, XM_005256438.3:c.2063A>G, XM_005256438.2:c.2063A>G, XM_005256438.1:c.2063A>G, XM_017024134.3:c.2063A>G, XM_017024134.2:c.2063A>G, XM_017024134.1:c.2063A>G, XM_017024137.3:c.1796A>G, XM_017024137.2:c.1796A>G, XM_017024137.1:c.1796A>G, XM_017024135.2:c.1796A>G, XM_017024135.1:c.1796A>G, XM_017024128.2:c.2063A>G, XM_017024128.1:c.2063A>G, XM_017024129.2:c.2063A>G, XM_017024129.1:c.2063A>G, XM_017024138.2:c.1505A>G, XM_017024138.1:c.1505A>G, XM_017024143.2:c.1199A>G, XM_017024143.1:c.1199A>G, XM_047435305.1:c.2063A>G, XM_047435302.1:c.2063A>G, XM_047435303.1:c.2063A>G, XM_047435304.1:c.2063A>G, NP_001032221.1:p.Asp688Gly, NP_444279.2:p.Asp688Gly, NP_001317053.1:p.Asp688Gly, NP_001340134.1:p.Asp599Gly, NP_001340133.1:p.Asp502Gly, NP_001340131.1:p.Asp688Gly, NP_001340137.1:p.Asp688Gly, NP_001340132.1:p.Asp688Gly, NP_001340135.1:p.Asp688Gly, NP_001340138.1:p.Asp688Gly, NP_001340136.1:p.Asp688Gly, XP_005256495.1:p.Asp688Gly, XP_016879623.1:p.Asp688Gly, XP_016879626.1:p.Asp599Gly, XP_016879624.1:p.Asp599Gly, XP_016879617.1:p.Asp688Gly, XP_016879618.1:p.Asp688Gly, XP_016879627.1:p.Asp502Gly, XP_016879632.1:p.Asp400Gly, XP_047291261.1:p.Asp688Gly, XP_047291258.1:p.Asp688Gly, XP_047291259.1:p.Asp688Gly, XP_047291260.1:p.Asp688Gly

                8.

                rs1484026267 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  17:7945789 (GRCh38)
                  17:7849107 (GRCh37)
                  Canonical SPDI:
                  NC_000017.11:7945788:T:G
                  Gene:
                  CNTROB (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  G=0.0055/10 (Korea1K)
                  HGVS:
                  NC_000017.11:g.7945789T>G, NC_000017.10:g.7849107T>G, NG_029754.1:g.18660T>G, NM_001037144.7:c.1796T>G, NM_001037144.6:c.1796T>G, NM_001037144.5:c.1796T>G, NM_053051.5:c.1796T>G, NM_053051.4:c.1796T>G, NM_053051.3:c.1796T>G, NM_001330124.3:c.1796T>G, NM_001330124.2:c.1796T>G, NM_001330124.1:c.1796T>G, NM_001353205.2:c.1529T>G, NM_001353205.1:c.1529T>G, NM_001353204.2:c.1238T>G, NM_001353204.1:c.1238T>G, NM_001353202.2:c.1796T>G, NM_001353202.1:c.1796T>G, NM_001353208.2:c.1796T>G, NM_001353208.1:c.1796T>G, NM_001353203.2:c.1796T>G, NM_001353203.1:c.1796T>G, NM_001353206.2:c.1796T>G, NM_001353206.1:c.1796T>G, NM_001353209.1:c.1796T>G, NM_001353207.1:c.1796T>G, XM_005256438.4:c.1796T>G, XM_005256438.3:c.1796T>G, XM_005256438.2:c.1796T>G, XM_005256438.1:c.1796T>G, XM_017024134.3:c.1796T>G, XM_017024134.2:c.1796T>G, XM_017024134.1:c.1796T>G, XM_017024137.3:c.1529T>G, XM_017024137.2:c.1529T>G, XM_017024137.1:c.1529T>G, XM_017024135.2:c.1529T>G, XM_017024135.1:c.1529T>G, XM_017024128.2:c.1796T>G, XM_017024128.1:c.1796T>G, XM_017024129.2:c.1796T>G, XM_017024129.1:c.1796T>G, XM_017024141.2:c.1796T>G, XM_017024141.1:c.1796T>G, XM_017024138.2:c.1238T>G, XM_017024138.1:c.1238T>G, XM_017024143.2:c.932T>G, XM_017024143.1:c.932T>G, XM_047435305.1:c.1796T>G, XM_047435302.1:c.1796T>G, XM_047435303.1:c.1796T>G, XM_047435304.1:c.1796T>G, NP_001032221.1:p.Val599Gly, NP_444279.2:p.Val599Gly, NP_001317053.1:p.Val599Gly, NP_001340134.1:p.Val510Gly, NP_001340133.1:p.Val413Gly, NP_001340131.1:p.Val599Gly, NP_001340137.1:p.Val599Gly, NP_001340132.1:p.Val599Gly, NP_001340135.1:p.Val599Gly, NP_001340138.1:p.Val599Gly, NP_001340136.1:p.Val599Gly, XP_005256495.1:p.Val599Gly, XP_016879623.1:p.Val599Gly, XP_016879626.1:p.Val510Gly, XP_016879624.1:p.Val510Gly, XP_016879617.1:p.Val599Gly, XP_016879618.1:p.Val599Gly, XP_016879630.1:p.Val599Gly, XP_016879627.1:p.Val413Gly, XP_016879632.1:p.Val311Gly, XP_047291261.1:p.Val599Gly, XP_047291258.1:p.Val599Gly, XP_047291259.1:p.Val599Gly, XP_047291260.1:p.Val599Gly

                  9.

                  rs1483552877 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    C>- [Show Flanks]
                    Chromosome:
                    17:7947648 (GRCh38)
                    17:7850966 (GRCh37)
                    Canonical SPDI:
                    NC_000017.11:7947647:CC:C
                    Gene:
                    CNTROB (Varview)
                    Functional Consequence:
                    genic_downstream_transcript_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    CC=0./0 (ALFA)
                    -=0./0 (GnomAD)
                    -=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000017.11:g.7947649del, NC_000017.10:g.7850967del, NG_029754.1:g.20520del, NM_001037144.7:c.2072del, NM_001037144.6:c.2072del, NM_001037144.5:c.2072del, NM_053051.5:c.2072del, NM_053051.4:c.2072del, NM_053051.3:c.2072del, NM_001330124.3:c.2072del, NM_001330124.2:c.2072del, NM_001330124.1:c.2072del, NM_001353205.2:c.1805del, NM_001353205.1:c.1805del, NM_001353204.2:c.1514del, NM_001353204.1:c.1514del, NM_001353202.2:c.2072del, NM_001353202.1:c.2072del, NM_001353208.2:c.2072del, NM_001353208.1:c.2072del, NM_001353203.2:c.2072del, NM_001353203.1:c.2072del, NM_001353206.2:c.2072del, NM_001353206.1:c.2072del, NM_001353209.1:c.2072del, NM_001353207.1:c.2072del, XM_005256438.4:c.2072del, XM_005256438.3:c.2072del, XM_005256438.2:c.2072del, XM_005256438.1:c.2072del, XM_017024134.3:c.2072del, XM_017024134.2:c.2072del, XM_017024134.1:c.2072del, XM_017024137.3:c.1805del, XM_017024137.2:c.1805del, XM_017024137.1:c.1805del, XM_017024135.2:c.1805del, XM_017024135.1:c.1805del, XM_017024128.2:c.2072del, XM_017024128.1:c.2072del, XM_017024129.2:c.2072del, XM_017024129.1:c.2072del, XM_017024138.2:c.1514del, XM_017024138.1:c.1514del, XM_017024143.2:c.1208del, XM_017024143.1:c.1208del, XM_047435305.1:c.2072del, XM_047435302.1:c.2072del, XM_047435303.1:c.2072del, XM_047435304.1:c.2072del, NP_001032221.1:p.Pro691fs, NP_444279.2:p.Pro691fs, NP_001317053.1:p.Pro691fs, NP_001340134.1:p.Pro602fs, NP_001340133.1:p.Pro505fs, NP_001340131.1:p.Pro691fs, NP_001340137.1:p.Pro691fs, NP_001340132.1:p.Pro691fs, NP_001340135.1:p.Pro691fs, NP_001340138.1:p.Pro691fs, NP_001340136.1:p.Pro691fs, XP_005256495.1:p.Pro691fs, XP_016879623.1:p.Pro691fs, XP_016879626.1:p.Pro602fs, XP_016879624.1:p.Pro602fs, XP_016879617.1:p.Pro691fs, XP_016879618.1:p.Pro691fs, XP_016879627.1:p.Pro505fs, XP_016879632.1:p.Pro403fs, XP_047291261.1:p.Pro691fs, XP_047291258.1:p.Pro691fs, XP_047291259.1:p.Pro691fs, XP_047291260.1:p.Pro691fs

                    10.

                    rs1481877069 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      17:7939558 (GRCh38)
                      17:7842876 (GRCh37)
                      Canonical SPDI:
                      NC_000017.11:7939557:C:T
                      Gene:
                      CNTROB (Varview)
                      Functional Consequence:
                      stop_gained,coding_sequence_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      T=0.000012/3 (GnomAD_exomes)
                      HGVS:
                      NC_000017.11:g.7939558C>T, NC_000017.10:g.7842876C>T, NG_029754.1:g.12429C>T, NM_001037144.7:c.973C>T, NM_001037144.6:c.973C>T, NM_001037144.5:c.973C>T, NM_053051.5:c.973C>T, NM_053051.4:c.973C>T, NM_053051.3:c.973C>T, NM_001330124.3:c.973C>T, NM_001330124.2:c.973C>T, NM_001330124.1:c.973C>T, NM_001353205.2:c.706C>T, NM_001353205.1:c.706C>T, NM_001353204.2:c.415C>T, NM_001353204.1:c.415C>T, NM_001353202.2:c.973C>T, NM_001353202.1:c.973C>T, NM_001353208.2:c.973C>T, NM_001353208.1:c.973C>T, NM_001353203.2:c.973C>T, NM_001353203.1:c.973C>T, NM_001353206.2:c.973C>T, NM_001353206.1:c.973C>T, NM_001353209.1:c.973C>T, NM_001353207.1:c.973C>T, XM_005256438.4:c.973C>T, XM_005256438.3:c.973C>T, XM_005256438.2:c.973C>T, XM_005256438.1:c.973C>T, XM_017024134.3:c.973C>T, XM_017024134.2:c.973C>T, XM_017024134.1:c.973C>T, XM_017024137.3:c.706C>T, XM_017024137.2:c.706C>T, XM_017024137.1:c.706C>T, XM_017024135.2:c.706C>T, XM_017024135.1:c.706C>T, XM_017024128.2:c.973C>T, XM_017024128.1:c.973C>T, XM_017024129.2:c.973C>T, XM_017024129.1:c.973C>T, XM_017024141.2:c.973C>T, XM_017024141.1:c.973C>T, XM_017024138.2:c.415C>T, XM_017024138.1:c.415C>T, XM_017024143.2:c.109C>T, XM_017024143.1:c.109C>T, XM_047435305.1:c.973C>T, XM_047435302.1:c.973C>T, XM_047435303.1:c.973C>T, XM_047435304.1:c.973C>T, NP_001032221.1:p.Gln325Ter, NP_444279.2:p.Gln325Ter, NP_001317053.1:p.Gln325Ter, NP_001340134.1:p.Gln236Ter, NP_001340133.1:p.Gln139Ter, NP_001340131.1:p.Gln325Ter, NP_001340137.1:p.Gln325Ter, NP_001340132.1:p.Gln325Ter, NP_001340135.1:p.Gln325Ter, NP_001340138.1:p.Gln325Ter, NP_001340136.1:p.Gln325Ter, XP_005256495.1:p.Gln325Ter, XP_016879623.1:p.Gln325Ter, XP_016879626.1:p.Gln236Ter, XP_016879624.1:p.Gln236Ter, XP_016879617.1:p.Gln325Ter, XP_016879618.1:p.Gln325Ter, XP_016879630.1:p.Gln325Ter, XP_016879627.1:p.Gln139Ter, XP_016879632.1:p.Gln37Ter, XP_047291261.1:p.Gln325Ter, XP_047291258.1:p.Gln325Ter, XP_047291259.1:p.Gln325Ter, XP_047291260.1:p.Gln325Ter

                      11.

                      rs1481588383 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        17:7944493 (GRCh38)
                        17:7847811 (GRCh37)
                        Canonical SPDI:
                        NC_000017.11:7944492:C:T
                        Gene:
                        CNTROB (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.00003/1 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000008/2 (GnomAD_exomes)
                        T=0.000014/2 (GnomAD)
                        T=0.000106/2 (TOMMO)
                        HGVS:
                        NC_000017.11:g.7944493C>T, NC_000017.10:g.7847811C>T, NG_029754.1:g.17364C>T, NM_001037144.7:c.1589C>T, NM_001037144.6:c.1589C>T, NM_001037144.5:c.1589C>T, NM_053051.5:c.1589C>T, NM_053051.4:c.1589C>T, NM_053051.3:c.1589C>T, NM_001330124.3:c.1589C>T, NM_001330124.2:c.1589C>T, NM_001330124.1:c.1589C>T, NM_001353205.2:c.1322C>T, NM_001353205.1:c.1322C>T, NM_001353204.2:c.1031C>T, NM_001353204.1:c.1031C>T, NM_001353202.2:c.1589C>T, NM_001353202.1:c.1589C>T, NM_001353208.2:c.1589C>T, NM_001353208.1:c.1589C>T, NM_001353203.2:c.1589C>T, NM_001353203.1:c.1589C>T, NM_001353206.2:c.1589C>T, NM_001353206.1:c.1589C>T, NM_001353209.1:c.1589C>T, NM_001353207.1:c.1589C>T, XM_005256438.4:c.1589C>T, XM_005256438.3:c.1589C>T, XM_005256438.2:c.1589C>T, XM_005256438.1:c.1589C>T, XM_017024134.3:c.1589C>T, XM_017024134.2:c.1589C>T, XM_017024134.1:c.1589C>T, XM_017024137.3:c.1322C>T, XM_017024137.2:c.1322C>T, XM_017024137.1:c.1322C>T, XM_017024135.2:c.1322C>T, XM_017024135.1:c.1322C>T, XM_017024128.2:c.1589C>T, XM_017024128.1:c.1589C>T, XM_017024129.2:c.1589C>T, XM_017024129.1:c.1589C>T, XM_017024141.2:c.1589C>T, XM_017024141.1:c.1589C>T, XM_017024138.2:c.1031C>T, XM_017024138.1:c.1031C>T, XM_017024143.2:c.725C>T, XM_017024143.1:c.725C>T, XM_047435305.1:c.1589C>T, XM_047435302.1:c.1589C>T, XM_047435303.1:c.1589C>T, XM_047435304.1:c.1589C>T, NP_001032221.1:p.Ala530Val, NP_444279.2:p.Ala530Val, NP_001317053.1:p.Ala530Val, NP_001340134.1:p.Ala441Val, NP_001340133.1:p.Ala344Val, NP_001340131.1:p.Ala530Val, NP_001340137.1:p.Ala530Val, NP_001340132.1:p.Ala530Val, NP_001340135.1:p.Ala530Val, NP_001340138.1:p.Ala530Val, NP_001340136.1:p.Ala530Val, XP_005256495.1:p.Ala530Val, XP_016879623.1:p.Ala530Val, XP_016879626.1:p.Ala441Val, XP_016879624.1:p.Ala441Val, XP_016879617.1:p.Ala530Val, XP_016879618.1:p.Ala530Val, XP_016879630.1:p.Ala530Val, XP_016879627.1:p.Ala344Val, XP_016879632.1:p.Ala242Val, XP_047291261.1:p.Ala530Val, XP_047291258.1:p.Ala530Val, XP_047291259.1:p.Ala530Val, XP_047291260.1:p.Ala530Val

                        12.

                        rs1479965347 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>T [Show Flanks]
                          Chromosome:
                          17:7934177 (GRCh38)
                          17:7837495 (GRCh37)
                          Canonical SPDI:
                          NC_000017.11:7934176:G:T
                          Gene:
                          CNTROB (Varview)
                          Functional Consequence:
                          coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000017.11:g.7934177G>T, NC_000017.10:g.7837495G>T, NG_029754.1:g.7048G>T, NM_001037144.7:c.310G>T, NM_001037144.6:c.310G>T, NM_001037144.5:c.310G>T, NM_053051.5:c.310G>T, NM_053051.4:c.310G>T, NM_053051.3:c.310G>T, NM_001330124.3:c.310G>T, NM_001330124.2:c.310G>T, NM_001330124.1:c.310G>T, NM_001353205.2:c.39G>T, NM_001353205.1:c.39G>T, NM_001353204.2:c.-381G>T, NM_001353204.1:c.-381G>T, NM_001353202.2:c.310G>T, NM_001353202.1:c.310G>T, NM_001353208.2:c.310G>T, NM_001353208.1:c.310G>T, NM_001353203.2:c.310G>T, NM_001353203.1:c.310G>T, NM_001353206.2:c.310G>T, NM_001353206.1:c.310G>T, NM_001353209.1:c.310G>T, NM_001353207.1:c.310G>T, XM_005256438.4:c.310G>T, XM_005256438.3:c.310G>T, XM_005256438.2:c.310G>T, XM_005256438.1:c.310G>T, XM_017024134.3:c.310G>T, XM_017024134.2:c.310G>T, XM_017024134.1:c.310G>T, XM_017024137.3:c.39G>T, XM_017024137.2:c.39G>T, XM_017024137.1:c.39G>T, XM_017024135.2:c.39G>T, XM_017024135.1:c.39G>T, XM_017024128.2:c.310G>T, XM_017024128.1:c.310G>T, XM_017024129.2:c.310G>T, XM_017024129.1:c.310G>T, XM_017024141.2:c.310G>T, XM_017024141.1:c.310G>T, XM_047435305.1:c.310G>T, XM_047435302.1:c.310G>T, XM_047435303.1:c.310G>T, XM_047435304.1:c.310G>T, NP_001032221.1:p.Gly104Cys, NP_444279.2:p.Gly104Cys, NP_001317053.1:p.Gly104Cys, NP_001340131.1:p.Gly104Cys, NP_001340137.1:p.Gly104Cys, NP_001340132.1:p.Gly104Cys, NP_001340135.1:p.Gly104Cys, NP_001340138.1:p.Gly104Cys, NP_001340136.1:p.Gly104Cys, XP_005256495.1:p.Gly104Cys, XP_016879623.1:p.Gly104Cys, XP_016879617.1:p.Gly104Cys, XP_016879618.1:p.Gly104Cys, XP_016879630.1:p.Gly104Cys, XP_047291261.1:p.Gly104Cys, XP_047291258.1:p.Gly104Cys, XP_047291259.1:p.Gly104Cys, XP_047291260.1:p.Gly104Cys

                          13.

                          rs1479637856 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            17:7933198 (GRCh38)
                            17:7836516 (GRCh37)
                            Canonical SPDI:
                            NC_000017.11:7933197:C:T
                            Gene:
                            TRAPPC1 (Varview), CNTROB (Varview)
                            Functional Consequence:
                            coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000017.11:g.7933198C>T, NC_000017.10:g.7836516C>T, NG_029754.1:g.6069C>T, NM_001037144.7:c.119C>T, NM_001037144.6:c.119C>T, NM_001037144.5:c.119C>T, NM_053051.5:c.119C>T, NM_053051.4:c.119C>T, NM_053051.3:c.119C>T, NM_001330124.3:c.119C>T, NM_001330124.2:c.119C>T, NM_001330124.1:c.119C>T, NM_001353205.2:c.-153C>T, NM_001353205.1:c.-153C>T, NM_001353204.2:c.-572C>T, NM_001353204.1:c.-572C>T, NM_001353202.2:c.119C>T, NM_001353202.1:c.119C>T, NM_001353208.2:c.119C>T, NM_001353208.1:c.119C>T, NM_001353203.2:c.119C>T, NM_001353203.1:c.119C>T, NM_001353206.2:c.119C>T, NM_001353206.1:c.119C>T, NM_001353209.1:c.119C>T, NM_001353207.1:c.119C>T, XM_005256438.4:c.119C>T, XM_005256438.3:c.119C>T, XM_005256438.2:c.119C>T, XM_005256438.1:c.119C>T, XM_017024134.3:c.119C>T, XM_017024134.2:c.119C>T, XM_017024134.1:c.119C>T, XM_017024137.3:c.-153C>T, XM_017024137.2:c.-153C>T, XM_017024137.1:c.-153C>T, XM_017024135.2:c.-153C>T, XM_017024135.1:c.-153C>T, XM_017024128.2:c.119C>T, XM_017024128.1:c.119C>T, XM_017024129.2:c.119C>T, XM_017024129.1:c.119C>T, XM_017024141.2:c.119C>T, XM_017024141.1:c.119C>T, XM_047435305.1:c.119C>T, XM_047435302.1:c.119C>T, XM_047435303.1:c.119C>T, XM_047435304.1:c.119C>T, NP_001032221.1:p.Ala40Val, NP_444279.2:p.Ala40Val, NP_001317053.1:p.Ala40Val, NP_001340131.1:p.Ala40Val, NP_001340137.1:p.Ala40Val, NP_001340132.1:p.Ala40Val, NP_001340135.1:p.Ala40Val, NP_001340138.1:p.Ala40Val, NP_001340136.1:p.Ala40Val, XP_005256495.1:p.Ala40Val, XP_016879623.1:p.Ala40Val, XP_016879617.1:p.Ala40Val, XP_016879618.1:p.Ala40Val, XP_016879630.1:p.Ala40Val, XP_047291261.1:p.Ala40Val, XP_047291258.1:p.Ala40Val, XP_047291259.1:p.Ala40Val, XP_047291260.1:p.Ala40Val

                            14.

                            rs1477106142 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              17:7936798 (GRCh38)
                              17:7840116 (GRCh37)
                              Canonical SPDI:
                              NC_000017.11:7936797:C:T
                              Gene:
                              CNTROB (Varview)
                              Functional Consequence:
                              5_prime_UTR_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000017.11:g.7936798C>T, NC_000017.10:g.7840116C>T, NG_029754.1:g.9669C>T, NM_001037144.7:c.809C>T, NM_001037144.6:c.809C>T, NM_001037144.5:c.809C>T, NM_053051.5:c.809C>T, NM_053051.4:c.809C>T, NM_053051.3:c.809C>T, NM_001330124.3:c.809C>T, NM_001330124.2:c.809C>T, NM_001330124.1:c.809C>T, NM_001353205.2:c.542C>T, NM_001353205.1:c.542C>T, NM_001353204.2:c.251C>T, NM_001353204.1:c.251C>T, NM_001353202.2:c.809C>T, NM_001353202.1:c.809C>T, NM_001353208.2:c.809C>T, NM_001353208.1:c.809C>T, NM_001353203.2:c.809C>T, NM_001353203.1:c.809C>T, NM_001353206.2:c.809C>T, NM_001353206.1:c.809C>T, NM_001353209.1:c.809C>T, NM_001353207.1:c.809C>T, XM_005256438.4:c.809C>T, XM_005256438.3:c.809C>T, XM_005256438.2:c.809C>T, XM_005256438.1:c.809C>T, XM_017024134.3:c.809C>T, XM_017024134.2:c.809C>T, XM_017024134.1:c.809C>T, XM_017024137.3:c.542C>T, XM_017024137.2:c.542C>T, XM_017024137.1:c.542C>T, XM_017024135.2:c.542C>T, XM_017024135.1:c.542C>T, XM_017024128.2:c.809C>T, XM_017024128.1:c.809C>T, XM_017024129.2:c.809C>T, XM_017024129.1:c.809C>T, XM_017024141.2:c.809C>T, XM_017024141.1:c.809C>T, XM_017024138.2:c.251C>T, XM_017024138.1:c.251C>T, XM_017024143.2:c.-52C>T, XM_017024143.1:c.-52C>T, XM_047435305.1:c.809C>T, XM_047435302.1:c.809C>T, XM_047435303.1:c.809C>T, XM_047435304.1:c.809C>T, NP_001032221.1:p.Thr270Ile, NP_444279.2:p.Thr270Ile, NP_001317053.1:p.Thr270Ile, NP_001340134.1:p.Thr181Ile, NP_001340133.1:p.Thr84Ile, NP_001340131.1:p.Thr270Ile, NP_001340137.1:p.Thr270Ile, NP_001340132.1:p.Thr270Ile, NP_001340135.1:p.Thr270Ile, NP_001340138.1:p.Thr270Ile, NP_001340136.1:p.Thr270Ile, XP_005256495.1:p.Thr270Ile, XP_016879623.1:p.Thr270Ile, XP_016879626.1:p.Thr181Ile, XP_016879624.1:p.Thr181Ile, XP_016879617.1:p.Thr270Ile, XP_016879618.1:p.Thr270Ile, XP_016879630.1:p.Thr270Ile, XP_016879627.1:p.Thr84Ile, XP_047291261.1:p.Thr270Ile, XP_047291258.1:p.Thr270Ile, XP_047291259.1:p.Thr270Ile, XP_047291260.1:p.Thr270Ile

                              15.

                              rs1475849921 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                TGTGAGCGCCAT>- [Show Flanks]
                                Chromosome:
                                17:7936369 (GRCh38)
                                17:7839687 (GRCh37)
                                Canonical SPDI:
                                NC_000017.11:7936365:CATTGTGAGCGCCAT:CAT
                                Gene:
                                CNTROB (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,genic_upstream_transcript_variant,inframe_deletion,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                CAT=0.0002/1 (ALFA)
                                -=0.0002/1 (Estonian)
                                HGVS:
                                NC_000017.11:g.7936369_7936380del, NC_000017.10:g.7839687_7839698del, NG_029754.1:g.9240_9251del, NM_001037144.7:c.598_609del, NM_001037144.6:c.598_609del, NM_001037144.5:c.598_609del, NM_053051.5:c.598_609del, NM_053051.4:c.598_609del, NM_053051.3:c.598_609del, NM_001330124.3:c.598_609del, NM_001330124.2:c.598_609del, NM_001330124.1:c.598_609del, NM_001353205.2:c.331_342del, NM_001353205.1:c.331_342del, NM_001353204.2:c.40_51del, NM_001353204.1:c.40_51del, NM_001353202.2:c.598_609del, NM_001353202.1:c.598_609del, NM_001353208.2:c.598_609del, NM_001353208.1:c.598_609del, NM_001353203.2:c.598_609del, NM_001353203.1:c.598_609del, NM_001353206.2:c.598_609del, NM_001353206.1:c.598_609del, NM_001353209.1:c.598_609del, NM_001353207.1:c.598_609del, XM_005256438.4:c.598_609del, XM_005256438.3:c.598_609del, XM_005256438.2:c.598_609del, XM_005256438.1:c.598_609del, XM_017024134.3:c.598_609del, XM_017024134.2:c.598_609del, XM_017024134.1:c.598_609del, XM_017024137.3:c.331_342del, XM_017024137.2:c.331_342del, XM_017024137.1:c.331_342del, XM_017024135.2:c.331_342del, XM_017024135.1:c.331_342del, XM_017024128.2:c.598_609del, XM_017024128.1:c.598_609del, XM_017024129.2:c.598_609del, XM_017024129.1:c.598_609del, XM_017024141.2:c.598_609del, XM_017024141.1:c.598_609del, XM_017024138.2:c.40_51del, XM_017024138.1:c.40_51del, XM_047435305.1:c.598_609del, XM_047435302.1:c.598_609del, XM_047435303.1:c.598_609del, XM_047435304.1:c.598_609del, NP_001032221.1:p.Cys200_His203del, NP_444279.2:p.Cys200_His203del, NP_001317053.1:p.Cys200_His203del, NP_001340134.1:p.Cys111_His114del, NP_001340133.1:p.Cys14_His17del, NP_001340131.1:p.Cys200_His203del, NP_001340137.1:p.Cys200_His203del, NP_001340132.1:p.Cys200_His203del, NP_001340135.1:p.Cys200_His203del, NP_001340138.1:p.Cys200_His203del, NP_001340136.1:p.Cys200_His203del, XP_005256495.1:p.Cys200_His203del, XP_016879623.1:p.Cys200_His203del, XP_016879626.1:p.Cys111_His114del, XP_016879624.1:p.Cys111_His114del, XP_016879617.1:p.Cys200_His203del, XP_016879618.1:p.Cys200_His203del, XP_016879630.1:p.Cys200_His203del, XP_016879627.1:p.Cys14_His17del, XP_047291261.1:p.Cys200_His203del, XP_047291258.1:p.Cys200_His203del, XP_047291259.1:p.Cys200_His203del, XP_047291260.1:p.Cys200_His203del

                                16.

                                rs1474898051 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>T [Show Flanks]
                                  Chromosome:
                                  17:7944592 (GRCh38)
                                  17:7847910 (GRCh37)
                                  Canonical SPDI:
                                  NC_000017.11:7944591:A:T
                                  Gene:
                                  CNTROB (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000017.11:g.7944592A>T, NC_000017.10:g.7847910A>T, NG_029754.1:g.17463A>T, NM_001037144.7:c.1688A>T, NM_001037144.6:c.1688A>T, NM_001037144.5:c.1688A>T, NM_053051.5:c.1688A>T, NM_053051.4:c.1688A>T, NM_053051.3:c.1688A>T, NM_001330124.3:c.1688A>T, NM_001330124.2:c.1688A>T, NM_001330124.1:c.1688A>T, NM_001353205.2:c.1421A>T, NM_001353205.1:c.1421A>T, NM_001353204.2:c.1130A>T, NM_001353204.1:c.1130A>T, NM_001353202.2:c.1688A>T, NM_001353202.1:c.1688A>T, NM_001353208.2:c.1688A>T, NM_001353208.1:c.1688A>T, NM_001353203.2:c.1688A>T, NM_001353203.1:c.1688A>T, NM_001353206.2:c.1688A>T, NM_001353206.1:c.1688A>T, NM_001353209.1:c.1688A>T, NM_001353207.1:c.1688A>T, XM_005256438.4:c.1688A>T, XM_005256438.3:c.1688A>T, XM_005256438.2:c.1688A>T, XM_005256438.1:c.1688A>T, XM_017024134.3:c.1688A>T, XM_017024134.2:c.1688A>T, XM_017024134.1:c.1688A>T, XM_017024137.3:c.1421A>T, XM_017024137.2:c.1421A>T, XM_017024137.1:c.1421A>T, XM_017024135.2:c.1421A>T, XM_017024135.1:c.1421A>T, XM_017024128.2:c.1688A>T, XM_017024128.1:c.1688A>T, XM_017024129.2:c.1688A>T, XM_017024129.1:c.1688A>T, XM_017024141.2:c.1688A>T, XM_017024141.1:c.1688A>T, XM_017024138.2:c.1130A>T, XM_017024138.1:c.1130A>T, XM_017024143.2:c.824A>T, XM_017024143.1:c.824A>T, XM_047435305.1:c.1688A>T, XM_047435302.1:c.1688A>T, XM_047435303.1:c.1688A>T, XM_047435304.1:c.1688A>T, NP_001032221.1:p.Glu563Val, NP_444279.2:p.Glu563Val, NP_001317053.1:p.Glu563Val, NP_001340134.1:p.Glu474Val, NP_001340133.1:p.Glu377Val, NP_001340131.1:p.Glu563Val, NP_001340137.1:p.Glu563Val, NP_001340132.1:p.Glu563Val, NP_001340135.1:p.Glu563Val, NP_001340138.1:p.Glu563Val, NP_001340136.1:p.Glu563Val, XP_005256495.1:p.Glu563Val, XP_016879623.1:p.Glu563Val, XP_016879626.1:p.Glu474Val, XP_016879624.1:p.Glu474Val, XP_016879617.1:p.Glu563Val, XP_016879618.1:p.Glu563Val, XP_016879630.1:p.Glu563Val, XP_016879627.1:p.Glu377Val, XP_016879632.1:p.Glu275Val, XP_047291261.1:p.Glu563Val, XP_047291258.1:p.Glu563Val, XP_047291259.1:p.Glu563Val, XP_047291260.1:p.Glu563Val

                                  17.

                                  rs1473690125 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    17:7940207 (GRCh38)
                                    17:7843525 (GRCh37)
                                    Canonical SPDI:
                                    NC_000017.11:7940206:A:G
                                    Gene:
                                    CNTROB (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0./0 (ALFA)
                                    G=0.000008/2 (TOPMED)
                                    G=0.000014/2 (GnomAD)
                                    HGVS:
                                    NC_000017.11:g.7940207A>G, NC_000017.10:g.7843525A>G, NG_029754.1:g.13078A>G, NM_001037144.7:c.1276A>G, NM_001037144.6:c.1276A>G, NM_001037144.5:c.1276A>G, NM_053051.5:c.1276A>G, NM_053051.4:c.1276A>G, NM_053051.3:c.1276A>G, NM_001330124.3:c.1276A>G, NM_001330124.2:c.1276A>G, NM_001330124.1:c.1276A>G, NM_001353205.2:c.1009A>G, NM_001353205.1:c.1009A>G, NM_001353204.2:c.718A>G, NM_001353204.1:c.718A>G, NM_001353202.2:c.1276A>G, NM_001353202.1:c.1276A>G, NM_001353208.2:c.1276A>G, NM_001353208.1:c.1276A>G, NM_001353203.2:c.1276A>G, NM_001353203.1:c.1276A>G, NM_001353206.2:c.1276A>G, NM_001353206.1:c.1276A>G, NM_001353209.1:c.1276A>G, NM_001353207.1:c.1276A>G, XM_005256438.4:c.1276A>G, XM_005256438.3:c.1276A>G, XM_005256438.2:c.1276A>G, XM_005256438.1:c.1276A>G, XM_017024134.3:c.1276A>G, XM_017024134.2:c.1276A>G, XM_017024134.1:c.1276A>G, XM_017024137.3:c.1009A>G, XM_017024137.2:c.1009A>G, XM_017024137.1:c.1009A>G, XM_017024135.2:c.1009A>G, XM_017024135.1:c.1009A>G, XM_017024128.2:c.1276A>G, XM_017024128.1:c.1276A>G, XM_017024129.2:c.1276A>G, XM_017024129.1:c.1276A>G, XM_017024141.2:c.1276A>G, XM_017024141.1:c.1276A>G, XM_017024138.2:c.718A>G, XM_017024138.1:c.718A>G, XM_017024143.2:c.412A>G, XM_017024143.1:c.412A>G, XM_047435305.1:c.1276A>G, XM_047435302.1:c.1276A>G, XM_047435303.1:c.1276A>G, XM_047435304.1:c.1276A>G, NP_001032221.1:p.Arg426Gly, NP_444279.2:p.Arg426Gly, NP_001317053.1:p.Arg426Gly, NP_001340134.1:p.Arg337Gly, NP_001340133.1:p.Arg240Gly, NP_001340131.1:p.Arg426Gly, NP_001340137.1:p.Arg426Gly, NP_001340132.1:p.Arg426Gly, NP_001340135.1:p.Arg426Gly, NP_001340138.1:p.Arg426Gly, NP_001340136.1:p.Arg426Gly, XP_005256495.1:p.Arg426Gly, XP_016879623.1:p.Arg426Gly, XP_016879626.1:p.Arg337Gly, XP_016879624.1:p.Arg337Gly, XP_016879617.1:p.Arg426Gly, XP_016879618.1:p.Arg426Gly, XP_016879630.1:p.Arg426Gly, XP_016879627.1:p.Arg240Gly, XP_016879632.1:p.Arg138Gly, XP_047291261.1:p.Arg426Gly, XP_047291258.1:p.Arg426Gly, XP_047291259.1:p.Arg426Gly, XP_047291260.1:p.Arg426Gly

                                    18.

                                    rs1473686122 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      17:7936706 (GRCh38)
                                      17:7840024 (GRCh37)
                                      Canonical SPDI:
                                      NC_000017.11:7936705:G:A
                                      Gene:
                                      CNTROB (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      A=0.000111/1 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000017.11:g.7936706G>A, NC_000017.10:g.7840024G>A, NG_029754.1:g.9577G>A, NM_001037144.7:c.717G>A, NM_001037144.6:c.717G>A, NM_001037144.5:c.717G>A, NM_053051.5:c.717G>A, NM_053051.4:c.717G>A, NM_053051.3:c.717G>A, NM_001330124.3:c.717G>A, NM_001330124.2:c.717G>A, NM_001330124.1:c.717G>A, NM_001353205.2:c.450G>A, NM_001353205.1:c.450G>A, NM_001353204.2:c.159G>A, NM_001353204.1:c.159G>A, NM_001353202.2:c.717G>A, NM_001353202.1:c.717G>A, NM_001353208.2:c.717G>A, NM_001353208.1:c.717G>A, NM_001353203.2:c.717G>A, NM_001353203.1:c.717G>A, NM_001353206.2:c.717G>A, NM_001353206.1:c.717G>A, NM_001353209.1:c.717G>A, NM_001353207.1:c.717G>A, XM_005256438.4:c.717G>A, XM_005256438.3:c.717G>A, XM_005256438.2:c.717G>A, XM_005256438.1:c.717G>A, XM_017024134.3:c.717G>A, XM_017024134.2:c.717G>A, XM_017024134.1:c.717G>A, XM_017024137.3:c.450G>A, XM_017024137.2:c.450G>A, XM_017024137.1:c.450G>A, XM_017024135.2:c.450G>A, XM_017024135.1:c.450G>A, XM_017024128.2:c.717G>A, XM_017024128.1:c.717G>A, XM_017024129.2:c.717G>A, XM_017024129.1:c.717G>A, XM_017024141.2:c.717G>A, XM_017024141.1:c.717G>A, XM_017024138.2:c.159G>A, XM_017024138.1:c.159G>A, XM_047435305.1:c.717G>A, XM_047435302.1:c.717G>A, XM_047435303.1:c.717G>A, XM_047435304.1:c.717G>A

                                      19.

                                      rs1472614898 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        17:7947974 (GRCh38)
                                        17:7851292 (GRCh37)
                                        Canonical SPDI:
                                        NC_000017.11:7947973:A:C
                                        Gene:
                                        CNTROB (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000017.11:g.7947974A>C, NC_000017.10:g.7851292A>C, NG_029754.1:g.20845A>C, NM_001037144.7:c.2204A>C, NM_001037144.6:c.2204A>C, NM_001037144.5:c.2204A>C, NM_053051.5:c.2204A>C, NM_053051.4:c.2204A>C, NM_053051.3:c.2204A>C, NM_001330124.3:c.2204A>C, NM_001330124.2:c.2204A>C, NM_001330124.1:c.2204A>C, NM_001353205.2:c.1937A>C, NM_001353205.1:c.1937A>C, NM_001353204.2:c.1646A>C, NM_001353204.1:c.1646A>C, NM_001353202.2:c.2204A>C, NM_001353202.1:c.2204A>C, NM_001353208.2:c.2204A>C, NM_001353208.1:c.2204A>C, NM_001353203.2:c.2204A>C, NM_001353203.1:c.2204A>C, NM_001353206.2:c.2204A>C, NM_001353206.1:c.2204A>C, NM_001353209.1:c.2204A>C, NM_001353207.1:c.2204A>C, XM_005256438.4:c.2204A>C, XM_005256438.3:c.2204A>C, XM_005256438.2:c.2204A>C, XM_005256438.1:c.2204A>C, XM_017024134.3:c.2204A>C, XM_017024134.2:c.2204A>C, XM_017024134.1:c.2204A>C, XM_017024137.3:c.1937A>C, XM_017024137.2:c.1937A>C, XM_017024137.1:c.1937A>C, XM_017024135.2:c.1937A>C, XM_017024135.1:c.1937A>C, XM_017024128.2:c.2204A>C, XM_017024128.1:c.2204A>C, XM_017024129.2:c.2204A>C, XM_017024129.1:c.2204A>C, XM_017024138.2:c.1646A>C, XM_017024138.1:c.1646A>C, XM_017024143.2:c.1340A>C, XM_017024143.1:c.1340A>C, XM_047435305.1:c.2204A>C, XM_047435302.1:c.2204A>C, XM_047435303.1:c.2204A>C, XM_047435304.1:c.2204A>C, NP_001032221.1:p.Lys735Thr, NP_444279.2:p.Lys735Thr, NP_001317053.1:p.Lys735Thr, NP_001340134.1:p.Lys646Thr, NP_001340133.1:p.Lys549Thr, NP_001340131.1:p.Lys735Thr, NP_001340137.1:p.Lys735Thr, NP_001340132.1:p.Lys735Thr, NP_001340135.1:p.Lys735Thr, NP_001340138.1:p.Lys735Thr, NP_001340136.1:p.Lys735Thr, XP_005256495.1:p.Lys735Thr, XP_016879623.1:p.Lys735Thr, XP_016879626.1:p.Lys646Thr, XP_016879624.1:p.Lys646Thr, XP_016879617.1:p.Lys735Thr, XP_016879618.1:p.Lys735Thr, XP_016879627.1:p.Lys549Thr, XP_016879632.1:p.Lys447Thr, XP_047291261.1:p.Lys735Thr, XP_047291258.1:p.Lys735Thr, XP_047291259.1:p.Lys735Thr, XP_047291260.1:p.Lys735Thr

                                        20.

                                        rs1471056549 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C,G [Show Flanks]
                                          Chromosome:
                                          17:7944553 (GRCh38)
                                          17:7847871 (GRCh37)
                                          Canonical SPDI:
                                          NC_000017.11:7944552:T:C,NC_000017.11:7944552:T:G
                                          Gene:
                                          CNTROB (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          C=0.000007/1 (GnomAD)
                                          G=0.003275/6 (Korea1K)
                                          HGVS:
                                          NC_000017.11:g.7944553T>C, NC_000017.11:g.7944553T>G, NC_000017.10:g.7847871T>C, NC_000017.10:g.7847871T>G, NG_029754.1:g.17424T>C, NG_029754.1:g.17424T>G, NM_001037144.7:c.1649T>C, NM_001037144.7:c.1649T>G, NM_001037144.6:c.1649T>C, NM_001037144.6:c.1649T>G, NM_001037144.5:c.1649T>C, NM_001037144.5:c.1649T>G, NM_053051.5:c.1649T>C, NM_053051.5:c.1649T>G, NM_053051.4:c.1649T>C, NM_053051.4:c.1649T>G, NM_053051.3:c.1649T>C, NM_053051.3:c.1649T>G, NM_001330124.3:c.1649T>C, NM_001330124.3:c.1649T>G, NM_001330124.2:c.1649T>C, NM_001330124.2:c.1649T>G, NM_001330124.1:c.1649T>C, NM_001330124.1:c.1649T>G, NM_001353205.2:c.1382T>C, NM_001353205.2:c.1382T>G, NM_001353205.1:c.1382T>C, NM_001353205.1:c.1382T>G, NM_001353204.2:c.1091T>C, NM_001353204.2:c.1091T>G, NM_001353204.1:c.1091T>C, NM_001353204.1:c.1091T>G, NM_001353202.2:c.1649T>C, NM_001353202.2:c.1649T>G, NM_001353202.1:c.1649T>C, NM_001353202.1:c.1649T>G, NM_001353208.2:c.1649T>C, NM_001353208.2:c.1649T>G, NM_001353208.1:c.1649T>C, NM_001353208.1:c.1649T>G, NM_001353203.2:c.1649T>C, NM_001353203.2:c.1649T>G, NM_001353203.1:c.1649T>C, NM_001353203.1:c.1649T>G, NM_001353206.2:c.1649T>C, NM_001353206.2:c.1649T>G, NM_001353206.1:c.1649T>C, NM_001353206.1:c.1649T>G, NM_001353209.1:c.1649T>C, NM_001353209.1:c.1649T>G, NM_001353207.1:c.1649T>C, NM_001353207.1:c.1649T>G, XM_005256438.4:c.1649T>C, XM_005256438.4:c.1649T>G, XM_005256438.3:c.1649T>C, XM_005256438.3:c.1649T>G, XM_005256438.2:c.1649T>C, XM_005256438.2:c.1649T>G, XM_005256438.1:c.1649T>C, XM_005256438.1:c.1649T>G, XM_017024134.3:c.1649T>C, XM_017024134.3:c.1649T>G, XM_017024134.2:c.1649T>C, XM_017024134.2:c.1649T>G, XM_017024134.1:c.1649T>C, XM_017024134.1:c.1649T>G, XM_017024137.3:c.1382T>C, XM_017024137.3:c.1382T>G, XM_017024137.2:c.1382T>C, XM_017024137.2:c.1382T>G, XM_017024137.1:c.1382T>C, XM_017024137.1:c.1382T>G, XM_017024135.2:c.1382T>C, XM_017024135.2:c.1382T>G, XM_017024135.1:c.1382T>C, XM_017024135.1:c.1382T>G, XM_017024128.2:c.1649T>C, XM_017024128.2:c.1649T>G, XM_017024128.1:c.1649T>C, XM_017024128.1:c.1649T>G, XM_017024129.2:c.1649T>C, XM_017024129.2:c.1649T>G, XM_017024129.1:c.1649T>C, XM_017024129.1:c.1649T>G, XM_017024141.2:c.1649T>C, XM_017024141.2:c.1649T>G, XM_017024141.1:c.1649T>C, XM_017024141.1:c.1649T>G, XM_017024138.2:c.1091T>C, XM_017024138.2:c.1091T>G, XM_017024138.1:c.1091T>C, XM_017024138.1:c.1091T>G, XM_017024143.2:c.785T>C, XM_017024143.2:c.785T>G, XM_017024143.1:c.785T>C, XM_017024143.1:c.785T>G, XM_047435305.1:c.1649T>C, XM_047435305.1:c.1649T>G, XM_047435302.1:c.1649T>C, XM_047435302.1:c.1649T>G, XM_047435303.1:c.1649T>C, XM_047435303.1:c.1649T>G, XM_047435304.1:c.1649T>C, XM_047435304.1:c.1649T>G, NP_001032221.1:p.Val550Ala, NP_001032221.1:p.Val550Gly, NP_444279.2:p.Val550Ala, NP_444279.2:p.Val550Gly, NP_001317053.1:p.Val550Ala, NP_001317053.1:p.Val550Gly, NP_001340134.1:p.Val461Ala, NP_001340134.1:p.Val461Gly, NP_001340133.1:p.Val364Ala, NP_001340133.1:p.Val364Gly, NP_001340131.1:p.Val550Ala, NP_001340131.1:p.Val550Gly, NP_001340137.1:p.Val550Ala, NP_001340137.1:p.Val550Gly, NP_001340132.1:p.Val550Ala, NP_001340132.1:p.Val550Gly, NP_001340135.1:p.Val550Ala, NP_001340135.1:p.Val550Gly, NP_001340138.1:p.Val550Ala, NP_001340138.1:p.Val550Gly, NP_001340136.1:p.Val550Ala, NP_001340136.1:p.Val550Gly, XP_005256495.1:p.Val550Ala, XP_005256495.1:p.Val550Gly, XP_016879623.1:p.Val550Ala, XP_016879623.1:p.Val550Gly, XP_016879626.1:p.Val461Ala, XP_016879626.1:p.Val461Gly, XP_016879624.1:p.Val461Ala, XP_016879624.1:p.Val461Gly, XP_016879617.1:p.Val550Ala, XP_016879617.1:p.Val550Gly, XP_016879618.1:p.Val550Ala, XP_016879618.1:p.Val550Gly, XP_016879630.1:p.Val550Ala, XP_016879630.1:p.Val550Gly, XP_016879627.1:p.Val364Ala, XP_016879627.1:p.Val364Gly, XP_016879632.1:p.Val262Ala, XP_016879632.1:p.Val262Gly, XP_047291261.1:p.Val550Ala, XP_047291261.1:p.Val550Gly, XP_047291258.1:p.Val550Ala, XP_047291258.1:p.Val550Gly, XP_047291259.1:p.Val550Ala, XP_047291259.1:p.Val550Gly, XP_047291260.1:p.Val550Ala, XP_047291260.1:p.Val550Gly

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