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Items: 1 to 20 of 174

2.

rs1479780129 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C,G [Show Flanks]
    Chromosome:
    19:50827157 (GRCh38)
    19:51330413 (GRCh37)
    Canonical SPDI:
    NC_000019.10:50827156:T:A,NC_000019.10:50827156:T:C,NC_000019.10:50827156:T:G
    Gene:
    KLK15 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000004/1 (TOPMED)
    A=0.000005/1 (GnomAD_exomes)
    HGVS:
    NC_000019.10:g.50827157T>A, NC_000019.10:g.50827157T>C, NC_000019.10:g.50827157T>G, NC_000019.9:g.51330413T>A, NC_000019.9:g.51330413T>C, NC_000019.9:g.51330413T>G, NG_029894.1:g.9367A>T, NG_029894.1:g.9367A>G, NG_029894.1:g.9367A>C, NM_017509.4:c.202A>T, NM_017509.4:c.202A>G, NM_017509.4:c.202A>C, NM_017509.3:c.202A>T, NM_017509.3:c.202A>G, NM_017509.3:c.202A>C, NM_001277081.2:c.199A>T, NM_001277081.2:c.199A>G, NM_001277081.2:c.199A>C, NM_001277081.1:c.199A>T, NM_001277081.1:c.199A>G, NM_001277081.1:c.199A>C, NM_001277082.2:c.199A>T, NM_001277082.2:c.199A>G, NM_001277082.2:c.199A>C, NM_001277082.1:c.199A>T, NM_001277082.1:c.199A>G, NM_001277082.1:c.199A>C, NR_102274.1:n.230A>T, NR_102274.1:n.230A>G, NR_102274.1:n.230A>C, NG_012094.1:g.1631A>T, NG_012094.1:g.1631A>G, NG_012094.1:g.1631A>C, XM_011527088.3:c.202A>T, XM_011527088.3:c.202A>G, XM_011527088.3:c.202A>C, XM_011527088.2:c.202A>T, XM_011527088.2:c.202A>G, XM_011527088.2:c.202A>C, XM_011527088.1:c.202A>T, XM_011527088.1:c.202A>G, XM_011527088.1:c.202A>C, XM_011527087.3:c.202A>T, XM_011527087.3:c.202A>G, XM_011527087.3:c.202A>C, XM_011527087.2:c.202A>T, XM_011527087.2:c.202A>G, XM_011527087.2:c.202A>C, XM_011527087.1:c.202A>T, XM_011527087.1:c.202A>G, XM_011527087.1:c.202A>C, XM_017026943.2:c.202A>T, XM_017026943.2:c.202A>G, XM_017026943.2:c.202A>C, XM_017026943.1:c.202A>T, XM_017026943.1:c.202A>G, XM_017026943.1:c.202A>C, NM_023006.1:c.202A>T, NM_023006.1:c.202A>G, NM_023006.1:c.202A>C, NM_138563.1:c.202A>T, NM_138563.1:c.202A>G, NM_138563.1:c.202A>C, XM_047439064.1:c.199A>T, XM_047439064.1:c.199A>G, XM_047439064.1:c.199A>C, NM_138564.1:c.202A>T, NM_138564.1:c.202A>G, NM_138564.1:c.202A>C, NP_059979.2:p.Met68Leu, NP_059979.2:p.Met68Val, NP_059979.2:p.Met68Leu, NP_001264010.1:p.Met67Leu, NP_001264010.1:p.Met67Val, NP_001264010.1:p.Met67Leu, NP_001264011.1:p.Met67Leu, NP_001264011.1:p.Met67Val, NP_001264011.1:p.Met67Leu, XP_011525390.1:p.Met68Leu, XP_011525390.1:p.Met68Val, XP_011525390.1:p.Met68Leu, XP_011525389.1:p.Met68Leu, XP_011525389.1:p.Met68Val, XP_011525389.1:p.Met68Leu, XP_016882432.1:p.Met68Leu, XP_016882432.1:p.Met68Val, XP_016882432.1:p.Met68Leu, XP_047295020.1:p.Met67Leu, XP_047295020.1:p.Met67Val, XP_047295020.1:p.Met67Leu
    7.
    9.

    rs1424568301 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      19:50827023 (GRCh38)
      19:51330279 (GRCh37)
      Canonical SPDI:
      NC_000019.10:50827022:T:G
      Gene:
      KLK15 (Varview)
      Functional Consequence:
      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      G=0./0 (ALFA)
      G=0.000007/1 (GnomAD)
      G=0.000008/2 (TOPMED)
      HGVS:
      12.

      rs1396817481 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        19:50827781 (GRCh38)
        19:51331037 (GRCh37)
        Canonical SPDI:
        NC_000019.10:50827780:G:A,NC_000019.10:50827780:G:C
        Gene:
        KLK15 (Varview)
        Functional Consequence:
        synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0./0 (ALFA)
        A=0.00004/1 (TOMMO)
        HGVS:
        NC_000019.10:g.50827781G>A, NC_000019.10:g.50827781G>C, NC_000019.9:g.51331037G>A, NC_000019.9:g.51331037G>C, NG_029894.1:g.8743C>T, NG_029894.1:g.8743C>G, NM_017509.4:c.78C>T, NM_017509.4:c.78C>G, NM_017509.3:c.78C>T, NM_017509.3:c.78C>G, NM_001277081.2:c.75C>T, NM_001277081.2:c.75C>G, NM_001277081.1:c.75C>T, NM_001277081.1:c.75C>G, NM_001277082.2:c.75C>T, NM_001277082.2:c.75C>G, NM_001277082.1:c.75C>T, NM_001277082.1:c.75C>G, NR_102274.1:n.106C>T, NR_102274.1:n.106C>G, NG_012094.1:g.1007C>T, NG_012094.1:g.1007C>G, XM_011527088.3:c.78C>T, XM_011527088.3:c.78C>G, XM_011527088.2:c.78C>T, XM_011527088.2:c.78C>G, XM_011527088.1:c.78C>T, XM_011527088.1:c.78C>G, XM_011527087.3:c.78C>T, XM_011527087.3:c.78C>G, XM_011527087.2:c.78C>T, XM_011527087.2:c.78C>G, XM_011527087.1:c.78C>T, XM_011527087.1:c.78C>G, XM_017026943.2:c.78C>T, XM_017026943.2:c.78C>G, XM_017026943.1:c.78C>T, XM_017026943.1:c.78C>G, NM_023006.1:c.78C>T, NM_023006.1:c.78C>G, NM_138563.1:c.78C>T, NM_138563.1:c.78C>G, XM_047439064.1:c.75C>T, XM_047439064.1:c.75C>G, NM_138564.1:c.78C>T, NM_138564.1:c.78C>G, NP_059979.2:p.Asp26Glu, NP_001264010.1:p.Asp25Glu, NP_001264011.1:p.Asp25Glu, XP_011525390.1:p.Asp26Glu, XP_011525389.1:p.Asp26Glu, XP_016882432.1:p.Asp26Glu, XP_047295020.1:p.Asp25Glu
        13.

        rs1394771794 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A,C [Show Flanks]
          Chromosome:
          19:50827072 (GRCh38)
          19:51330328 (GRCh37)
          Canonical SPDI:
          NC_000019.10:50827071:G:A,NC_000019.10:50827071:G:C
          Gene:
          KLK15 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          A=0.000004/1 (TOPMED)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000019.10:g.50827072G>A, NC_000019.10:g.50827072G>C, NC_000019.9:g.51330328G>A, NC_000019.9:g.51330328G>C, NG_029894.1:g.9452C>T, NG_029894.1:g.9452C>G, NM_017509.4:c.287C>T, NM_017509.4:c.287C>G, NM_017509.3:c.287C>T, NM_017509.3:c.287C>G, NM_001277081.2:c.284C>T, NM_001277081.2:c.284C>G, NM_001277081.1:c.284C>T, NM_001277081.1:c.284C>G, NM_001277082.2:c.284C>T, NM_001277082.2:c.284C>G, NM_001277082.1:c.284C>T, NM_001277082.1:c.284C>G, NR_102274.1:n.315C>T, NR_102274.1:n.315C>G, NG_012094.1:g.1716C>T, NG_012094.1:g.1716C>G, XM_011527088.3:c.287C>T, XM_011527088.3:c.287C>G, XM_011527088.2:c.287C>T, XM_011527088.2:c.287C>G, XM_011527088.1:c.287C>T, XM_011527088.1:c.287C>G, XM_011527087.3:c.287C>T, XM_011527087.3:c.287C>G, XM_011527087.2:c.287C>T, XM_011527087.2:c.287C>G, XM_011527087.1:c.287C>T, XM_011527087.1:c.287C>G, XM_017026943.2:c.287C>T, XM_017026943.2:c.287C>G, XM_017026943.1:c.287C>T, XM_017026943.1:c.287C>G, NM_023006.1:c.287C>T, NM_023006.1:c.287C>G, NM_138563.1:c.287C>T, NM_138563.1:c.287C>G, XM_047439064.1:c.284C>T, XM_047439064.1:c.284C>G, NM_138564.1:c.287C>T, NM_138564.1:c.287C>G, NP_059979.2:p.Pro96Leu, NP_059979.2:p.Pro96Arg, NP_001264010.1:p.Pro95Leu, NP_001264010.1:p.Pro95Arg, NP_001264011.1:p.Pro95Leu, NP_001264011.1:p.Pro95Arg, XP_011525390.1:p.Pro96Leu, XP_011525390.1:p.Pro96Arg, XP_011525389.1:p.Pro96Leu, XP_011525389.1:p.Pro96Arg, XP_016882432.1:p.Pro96Leu, XP_016882432.1:p.Pro96Arg, XP_047295020.1:p.Pro95Leu, XP_047295020.1:p.Pro95Arg
          15.

          rs1383374843 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A,T [Show Flanks]
            Chromosome:
            19:50827680 (GRCh38)
            19:51330936 (GRCh37)
            Canonical SPDI:
            NC_000019.10:50827679:G:A,NC_000019.10:50827679:G:T
            Gene:
            KLK15 (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000019.10:g.50827680G>A, NC_000019.10:g.50827680G>T, NC_000019.9:g.51330936G>A, NC_000019.9:g.51330936G>T, NG_029894.1:g.8844C>T, NG_029894.1:g.8844C>A, NM_017509.4:c.179C>T, NM_017509.4:c.179C>A, NM_017509.3:c.179C>T, NM_017509.3:c.179C>A, NM_001277081.2:c.176C>T, NM_001277081.2:c.176C>A, NM_001277081.1:c.176C>T, NM_001277081.1:c.176C>A, NM_001277082.2:c.176C>T, NM_001277082.2:c.176C>A, NM_001277082.1:c.176C>T, NM_001277082.1:c.176C>A, NR_102274.1:n.207C>T, NR_102274.1:n.207C>A, NG_012094.1:g.1108C>T, NG_012094.1:g.1108C>A, XM_011527088.3:c.179C>T, XM_011527088.3:c.179C>A, XM_011527088.2:c.179C>T, XM_011527088.2:c.179C>A, XM_011527088.1:c.179C>T, XM_011527088.1:c.179C>A, XM_011527087.3:c.179C>T, XM_011527087.3:c.179C>A, XM_011527087.2:c.179C>T, XM_011527087.2:c.179C>A, XM_011527087.1:c.179C>T, XM_011527087.1:c.179C>A, XM_017026943.2:c.179C>T, XM_017026943.2:c.179C>A, XM_017026943.1:c.179C>T, XM_017026943.1:c.179C>A, NM_023006.1:c.179C>T, NM_023006.1:c.179C>A, NM_138563.1:c.179C>T, NM_138563.1:c.179C>A, XM_047439064.1:c.176C>T, XM_047439064.1:c.176C>A, NM_138564.1:c.179C>T, NM_138564.1:c.179C>A, NP_059979.2:p.Ala60Val, NP_059979.2:p.Ala60Glu, NP_001264010.1:p.Ala59Val, NP_001264010.1:p.Ala59Glu, NP_001264011.1:p.Ala59Val, NP_001264011.1:p.Ala59Glu, XP_011525390.1:p.Ala60Val, XP_011525390.1:p.Ala60Glu, XP_011525389.1:p.Ala60Val, XP_011525389.1:p.Ala60Glu, XP_016882432.1:p.Ala60Val, XP_016882432.1:p.Ala60Glu, XP_047295020.1:p.Ala59Val, XP_047295020.1:p.Ala59Glu
            19.

            rs1346950894 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C,G [Show Flanks]
              Chromosome:
              19:50827138 (GRCh38)
              19:51330394 (GRCh37)
              Canonical SPDI:
              NC_000019.10:50827137:T:C,NC_000019.10:50827137:T:G
              Gene:
              KLK15 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              HGVS:
              NC_000019.10:g.50827138T>C, NC_000019.10:g.50827138T>G, NC_000019.9:g.51330394T>C, NC_000019.9:g.51330394T>G, NG_029894.1:g.9386A>G, NG_029894.1:g.9386A>C, NM_017509.4:c.221A>G, NM_017509.4:c.221A>C, NM_017509.3:c.221A>G, NM_017509.3:c.221A>C, NM_001277081.2:c.218A>G, NM_001277081.2:c.218A>C, NM_001277081.1:c.218A>G, NM_001277081.1:c.218A>C, NM_001277082.2:c.218A>G, NM_001277082.2:c.218A>C, NM_001277082.1:c.218A>G, NM_001277082.1:c.218A>C, NR_102274.1:n.249A>G, NR_102274.1:n.249A>C, NG_012094.1:g.1650A>G, NG_012094.1:g.1650A>C, XM_011527088.3:c.221A>G, XM_011527088.3:c.221A>C, XM_011527088.2:c.221A>G, XM_011527088.2:c.221A>C, XM_011527088.1:c.221A>G, XM_011527088.1:c.221A>C, XM_011527087.3:c.221A>G, XM_011527087.3:c.221A>C, XM_011527087.2:c.221A>G, XM_011527087.2:c.221A>C, XM_011527087.1:c.221A>G, XM_011527087.1:c.221A>C, XM_017026943.2:c.221A>G, XM_017026943.2:c.221A>C, XM_017026943.1:c.221A>G, XM_017026943.1:c.221A>C, NM_023006.1:c.221A>G, NM_023006.1:c.221A>C, NM_138563.1:c.221A>G, NM_138563.1:c.221A>C, XM_047439064.1:c.218A>G, XM_047439064.1:c.218A>C, NM_138564.1:c.221A>G, NM_138564.1:c.221A>C, NP_059979.2:p.Glu74Gly, NP_059979.2:p.Glu74Ala, NP_001264010.1:p.Glu73Gly, NP_001264010.1:p.Glu73Ala, NP_001264011.1:p.Glu73Gly, NP_001264011.1:p.Glu73Ala, XP_011525390.1:p.Glu74Gly, XP_011525390.1:p.Glu74Ala, XP_011525389.1:p.Glu74Gly, XP_011525389.1:p.Glu74Ala, XP_016882432.1:p.Glu74Gly, XP_016882432.1:p.Glu74Ala, XP_047295020.1:p.Glu73Gly, XP_047295020.1:p.Glu73Ala
              20.

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