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Items: 1 to 20 of 615

1.

rs1489723769 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    2:63382020 (GRCh38)
    2:63609155 (GRCh37)
    Canonical SPDI:
    NC_000002.12:63382019:C:A,NC_000002.12:63382019:C:T
    Gene:
    WDPCP (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.63382020C>A, NC_000002.12:g.63382020C>T, NC_000002.11:g.63609155C>A, NC_000002.11:g.63609155C>T, NG_028144.2:g.463806G>T, NG_028144.2:g.463806G>A, NM_015910.7:c.1510G>T, NM_015910.7:c.1510G>A, NM_015910.6:c.1510G>T, NM_015910.6:c.1510G>A, NM_015910.5:c.1510G>T, NM_015910.5:c.1510G>A, NM_001042692.3:c.1033G>T, NM_001042692.3:c.1033G>A, NM_001042692.2:c.1033G>T, NM_001042692.2:c.1033G>A, NM_001042692.1:c.1033G>T, NM_001042692.1:c.1033G>A, NM_001354044.2:c.1438G>T, NM_001354044.2:c.1438G>A, NM_001354044.1:c.1438G>T, NM_001354044.1:c.1438G>A, NR_148704.2:n.1968G>T, NR_148704.2:n.1968G>A, NR_148704.1:n.2290G>T, NR_148704.1:n.2290G>A, NR_148705.2:n.1716G>T, NR_148705.2:n.1716G>A, NR_148705.1:n.2038G>T, NR_148705.1:n.2038G>A, NR_122106.2:n.1157G>T, NR_122106.2:n.1157G>A, NR_122106.1:n.1157G>T, NR_122106.1:n.1157G>A, NM_001354045.2:c.1510G>T, NM_001354045.2:c.1510G>A, NM_001354045.1:c.1510G>T, NM_001354045.1:c.1510G>A, XM_005264348.5:c.1510G>T, XM_005264348.5:c.1510G>A, XM_005264348.4:c.1510G>T, XM_005264348.4:c.1510G>A, XM_005264348.3:c.1510G>T, XM_005264348.3:c.1510G>A, XM_005264348.2:c.1510G>T, XM_005264348.2:c.1510G>A, XM_005264348.1:c.1510G>T, XM_005264348.1:c.1510G>A, XM_011532884.4:c.1510G>T, XM_011532884.4:c.1510G>A, XM_011532884.3:c.1510G>T, XM_011532884.3:c.1510G>A, XM_011532884.2:c.1510G>T, XM_011532884.2:c.1510G>A, XM_011532884.1:c.1510G>T, XM_011532884.1:c.1510G>A, XM_011532881.4:c.1438G>T, XM_011532881.4:c.1438G>A, XM_011532881.3:c.1438G>T, XM_011532881.3:c.1438G>A, XM_011532881.2:c.1438G>T, XM_011532881.2:c.1438G>A, XM_011532881.1:c.1438G>T, XM_011532881.1:c.1438G>A, XM_011532890.4:c.1510G>T, XM_011532890.4:c.1510G>A, XM_011532890.3:c.1510G>T, XM_011532890.3:c.1510G>A, XM_011532890.2:c.1510G>T, XM_011532890.2:c.1510G>A, XM_011532890.1:c.1510G>T, XM_011532890.1:c.1510G>A, XM_011532887.4:c.1510G>T, XM_011532887.4:c.1510G>A, XM_011532887.3:c.1510G>T, XM_011532887.3:c.1510G>A, XM_011532887.2:c.1510G>T, XM_011532887.2:c.1510G>A, XM_011532887.1:c.1510G>T, XM_011532887.1:c.1510G>A, XM_017004253.3:c.1510G>T, XM_017004253.3:c.1510G>A, XM_017004253.2:c.1510G>T, XM_017004253.2:c.1510G>A, XM_017004253.1:c.1510G>T, XM_017004253.1:c.1510G>A, XM_047444626.1:c.1438G>T, XM_047444626.1:c.1438G>A, XM_047444630.1:c.1411G>T, XM_047444630.1:c.1411G>A, XM_047444627.1:c.1438G>T, XM_047444627.1:c.1438G>A, XM_047444631.1:c.1438G>T, XM_047444631.1:c.1438G>A, XM_047444629.1:c.1438G>T, XM_047444629.1:c.1438G>A, XM_047444628.1:c.1438G>T, XM_047444628.1:c.1438G>A, XM_047444633.1:c.1033G>T, XM_047444633.1:c.1033G>A, XR_007076379.1:n.1716G>T, XR_007076379.1:n.1716G>A, XR_007076380.1:n.1716G>T, XR_007076380.1:n.1716G>A, XM_047444632.1:c.1510G>T, XM_047444632.1:c.1510G>A, XM_047444634.1:c.1510G>T, XM_047444634.1:c.1510G>A, NP_056994.3:p.Ala504Ser, NP_056994.3:p.Ala504Thr, NP_001036157.1:p.Ala345Ser, NP_001036157.1:p.Ala345Thr, NP_001340973.1:p.Ala480Ser, NP_001340973.1:p.Ala480Thr, NP_001340974.1:p.Ala504Ser, NP_001340974.1:p.Ala504Thr, XP_005264405.1:p.Ala504Ser, XP_005264405.1:p.Ala504Thr, XP_011531186.1:p.Ala504Ser, XP_011531186.1:p.Ala504Thr, XP_011531183.1:p.Ala480Ser, XP_011531183.1:p.Ala480Thr, XP_011531192.1:p.Ala504Ser, XP_011531192.1:p.Ala504Thr, XP_011531189.1:p.Ala504Ser, XP_011531189.1:p.Ala504Thr, XP_016859742.1:p.Ala504Ser, XP_016859742.1:p.Ala504Thr, XP_047300582.1:p.Ala480Ser, XP_047300582.1:p.Ala480Thr, XP_047300586.1:p.Ala471Ser, XP_047300586.1:p.Ala471Thr, XP_047300583.1:p.Ala480Ser, XP_047300583.1:p.Ala480Thr, XP_047300587.1:p.Ala480Ser, XP_047300587.1:p.Ala480Thr, XP_047300585.1:p.Ala480Ser, XP_047300585.1:p.Ala480Thr, XP_047300584.1:p.Ala480Ser, XP_047300584.1:p.Ala480Thr, XP_047300589.1:p.Ala345Ser, XP_047300589.1:p.Ala345Thr, XP_047300588.1:p.Ala504Ser, XP_047300588.1:p.Ala504Thr, XP_047300590.1:p.Ala504Ser, XP_047300590.1:p.Ala504Thr

    2.

    rs1488418430 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>G [Show Flanks]
      Chromosome:
      2:63492913 (GRCh38)
      2:63720047 (GRCh37)
      Canonical SPDI:
      NC_000002.12:63492912:A:G
      Gene:
      WDPCP (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000002.12:g.63492913A>G, NC_000002.11:g.63720047A>G, NG_028144.2:g.352913T>C, NM_015910.7:c.103T>C, NM_015910.6:c.103T>C, NM_015910.5:c.103T>C, NM_001354044.2:c.31T>C, NM_001354044.1:c.31T>C, NR_148704.2:n.561T>C, NR_148704.1:n.883T>C, NR_148705.2:n.309T>C, NR_148705.1:n.631T>C, NM_001354045.2:c.103T>C, NM_001354045.1:c.103T>C, XM_005264348.5:c.103T>C, XM_005264348.4:c.103T>C, XM_005264348.3:c.103T>C, XM_005264348.2:c.103T>C, XM_005264348.1:c.103T>C, XM_011532884.4:c.103T>C, XM_011532884.3:c.103T>C, XM_011532884.2:c.103T>C, XM_011532884.1:c.103T>C, XM_011532881.4:c.31T>C, XM_011532881.3:c.31T>C, XM_011532881.2:c.31T>C, XM_011532881.1:c.31T>C, XM_011532890.4:c.103T>C, XM_011532890.3:c.103T>C, XM_011532890.2:c.103T>C, XM_011532890.1:c.103T>C, XM_011532887.4:c.103T>C, XM_011532887.3:c.103T>C, XM_011532887.2:c.103T>C, XM_011532887.1:c.103T>C, XM_017004253.3:c.103T>C, XM_017004253.2:c.103T>C, XM_017004253.1:c.103T>C, XM_047444626.1:c.31T>C, XM_047444630.1:c.4T>C, XM_047444627.1:c.31T>C, XM_047444631.1:c.31T>C, XM_047444629.1:c.31T>C, XM_047444628.1:c.31T>C, XR_007076379.1:n.309T>C, XR_007076380.1:n.309T>C, XM_047444632.1:c.103T>C, XM_047444634.1:c.103T>C, NP_056994.3:p.Ser35Pro, NP_001340973.1:p.Ser11Pro, NP_001340974.1:p.Ser35Pro, XP_005264405.1:p.Ser35Pro, XP_011531186.1:p.Ser35Pro, XP_011531183.1:p.Ser11Pro, XP_011531192.1:p.Ser35Pro, XP_011531189.1:p.Ser35Pro, XP_016859742.1:p.Ser35Pro, XP_047300582.1:p.Ser11Pro, XP_047300586.1:p.Ser2Pro, XP_047300583.1:p.Ser11Pro, XP_047300587.1:p.Ser11Pro, XP_047300585.1:p.Ser11Pro, XP_047300584.1:p.Ser11Pro, XP_047300588.1:p.Ser35Pro, XP_047300590.1:p.Ser35Pro

      3.

      rs1481685257 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        2:63486577 (GRCh38)
        2:63713711 (GRCh37)
        Canonical SPDI:
        NC_000002.12:63486576:T:C
        Gene:
        WDPCP (Varview)
        Functional Consequence:
        genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
        Clinical significance:
        uncertain-significance
        Validated:
        by frequency,by alfa
        MAF:
        C=0./0 (ALFA)
        C=0.000004/1 (TOPMED)
        HGVS:
        NC_000002.12:g.63486577T>C, NC_000002.11:g.63713711T>C, NG_028144.2:g.359249A>G, NM_015910.7:c.218A>G, NM_015910.6:c.218A>G, NM_015910.5:c.218A>G, NM_001354044.2:c.146A>G, NM_001354044.1:c.146A>G, NR_148704.2:n.676A>G, NR_148704.1:n.998A>G, NR_148705.2:n.424A>G, NR_148705.1:n.746A>G, NM_001354045.2:c.218A>G, NM_001354045.1:c.218A>G, XM_005264348.5:c.218A>G, XM_005264348.4:c.218A>G, XM_005264348.3:c.218A>G, XM_005264348.2:c.218A>G, XM_005264348.1:c.218A>G, XM_011532884.4:c.218A>G, XM_011532884.3:c.218A>G, XM_011532884.2:c.218A>G, XM_011532884.1:c.218A>G, XM_011532881.4:c.146A>G, XM_011532881.3:c.146A>G, XM_011532881.2:c.146A>G, XM_011532881.1:c.146A>G, XM_011532890.4:c.218A>G, XM_011532890.3:c.218A>G, XM_011532890.2:c.218A>G, XM_011532890.1:c.218A>G, XM_011532887.4:c.218A>G, XM_011532887.3:c.218A>G, XM_011532887.2:c.218A>G, XM_011532887.1:c.218A>G, XM_017004253.3:c.218A>G, XM_017004253.2:c.218A>G, XM_017004253.1:c.218A>G, XM_047444626.1:c.146A>G, XM_047444630.1:c.119A>G, XM_047444627.1:c.146A>G, XM_047444631.1:c.146A>G, XM_047444629.1:c.146A>G, XM_047444628.1:c.146A>G, XR_007076379.1:n.424A>G, XR_007076380.1:n.424A>G, XM_047444632.1:c.218A>G, XM_047444634.1:c.218A>G, NP_056994.3:p.His73Arg, NP_001340973.1:p.His49Arg, NP_001340974.1:p.His73Arg, XP_005264405.1:p.His73Arg, XP_011531186.1:p.His73Arg, XP_011531183.1:p.His49Arg, XP_011531192.1:p.His73Arg, XP_011531189.1:p.His73Arg, XP_016859742.1:p.His73Arg, XP_047300582.1:p.His49Arg, XP_047300586.1:p.His40Arg, XP_047300583.1:p.His49Arg, XP_047300587.1:p.His49Arg, XP_047300585.1:p.His49Arg, XP_047300584.1:p.His49Arg, XP_047300588.1:p.His73Arg, XP_047300590.1:p.His73Arg

        4.

        rs1480092104 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:63404100 (GRCh38)
          2:63631235 (GRCh37)
          Canonical SPDI:
          NC_000002.12:63404099:G:A
          Gene:
          WDPCP (Varview)
          Functional Consequence:
          synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
          Clinical significance:
          likely-benign
          Validated:
          by frequency,by alfa
          MAF:
          A=0.000047/1 (ALFA)
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000002.12:g.63404100G>A, NC_000002.11:g.63631235G>A, NG_028144.2:g.441726C>T, NM_015910.7:c.1383C>T, NM_015910.6:c.1383C>T, NM_015910.5:c.1383C>T, NM_001042692.3:c.906C>T, NM_001042692.2:c.906C>T, NM_001042692.1:c.906C>T, NM_001354044.2:c.1311C>T, NM_001354044.1:c.1311C>T, NR_148704.2:n.1841C>T, NR_148704.1:n.2163C>T, NR_148705.2:n.1589C>T, NR_148705.1:n.1911C>T, NR_122106.2:n.1030C>T, NR_122106.1:n.1030C>T, NM_001354045.2:c.1383C>T, NM_001354045.1:c.1383C>T, XM_005264348.5:c.1383C>T, XM_005264348.4:c.1383C>T, XM_005264348.3:c.1383C>T, XM_005264348.2:c.1383C>T, XM_005264348.1:c.1383C>T, XM_011532884.4:c.1383C>T, XM_011532884.3:c.1383C>T, XM_011532884.2:c.1383C>T, XM_011532884.1:c.1383C>T, XM_011532881.4:c.1311C>T, XM_011532881.3:c.1311C>T, XM_011532881.2:c.1311C>T, XM_011532881.1:c.1311C>T, XM_011532890.4:c.1383C>T, XM_011532890.3:c.1383C>T, XM_011532890.2:c.1383C>T, XM_011532890.1:c.1383C>T, XM_011532887.4:c.1383C>T, XM_011532887.3:c.1383C>T, XM_011532887.2:c.1383C>T, XM_011532887.1:c.1383C>T, XM_017004253.3:c.1383C>T, XM_017004253.2:c.1383C>T, XM_017004253.1:c.1383C>T, XM_047444626.1:c.1311C>T, XM_047444630.1:c.1284C>T, XM_047444627.1:c.1311C>T, XM_047444631.1:c.1311C>T, XM_047444629.1:c.1311C>T, XM_047444628.1:c.1311C>T, XM_047444633.1:c.906C>T, XR_007076379.1:n.1589C>T, XR_007076380.1:n.1589C>T, XM_047444632.1:c.1383C>T, XM_047444634.1:c.1383C>T

          5.

          rs1477809561 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A,G [Show Flanks]
            Chromosome:
            2:63437516 (GRCh38)
            2:63664650 (GRCh37)
            Canonical SPDI:
            NC_000002.12:63437515:C:A,NC_000002.12:63437515:C:G
            Gene:
            WDPCP (Varview)
            Functional Consequence:
            non_coding_transcript_variant,missense_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0./0 (GnomAD)
            HGVS:
            NC_000002.12:g.63437516C>A, NC_000002.12:g.63437516C>G, NC_000002.11:g.63664650C>A, NC_000002.11:g.63664650C>G, NG_028144.2:g.408310G>T, NG_028144.2:g.408310G>C, NM_015910.7:c.538G>T, NM_015910.7:c.538G>C, NM_015910.6:c.538G>T, NM_015910.6:c.538G>C, NM_015910.5:c.538G>T, NM_015910.5:c.538G>C, NM_001042692.3:c.61G>T, NM_001042692.3:c.61G>C, NM_001042692.2:c.61G>T, NM_001042692.2:c.61G>C, NM_001042692.1:c.61G>T, NM_001042692.1:c.61G>C, NM_001354044.2:c.466G>T, NM_001354044.2:c.466G>C, NM_001354044.1:c.466G>T, NM_001354044.1:c.466G>C, NR_148704.2:n.996G>T, NR_148704.2:n.996G>C, NR_148704.1:n.1318G>T, NR_148704.1:n.1318G>C, NR_148705.2:n.744G>T, NR_148705.2:n.744G>C, NR_148705.1:n.1066G>T, NR_148705.1:n.1066G>C, NR_122106.2:n.185G>T, NR_122106.2:n.185G>C, NR_122106.1:n.185G>T, NR_122106.1:n.185G>C, NM_001354045.2:c.538G>T, NM_001354045.2:c.538G>C, NM_001354045.1:c.538G>T, NM_001354045.1:c.538G>C, XM_005264348.5:c.538G>T, XM_005264348.5:c.538G>C, XM_005264348.4:c.538G>T, XM_005264348.4:c.538G>C, XM_005264348.3:c.538G>T, XM_005264348.3:c.538G>C, XM_005264348.2:c.538G>T, XM_005264348.2:c.538G>C, XM_005264348.1:c.538G>T, XM_005264348.1:c.538G>C, XM_011532884.4:c.538G>T, XM_011532884.4:c.538G>C, XM_011532884.3:c.538G>T, XM_011532884.3:c.538G>C, XM_011532884.2:c.538G>T, XM_011532884.2:c.538G>C, XM_011532884.1:c.538G>T, XM_011532884.1:c.538G>C, XM_011532881.4:c.466G>T, XM_011532881.4:c.466G>C, XM_011532881.3:c.466G>T, XM_011532881.3:c.466G>C, XM_011532881.2:c.466G>T, XM_011532881.2:c.466G>C, XM_011532881.1:c.466G>T, XM_011532881.1:c.466G>C, XM_011532890.4:c.538G>T, XM_011532890.4:c.538G>C, XM_011532890.3:c.538G>T, XM_011532890.3:c.538G>C, XM_011532890.2:c.538G>T, XM_011532890.2:c.538G>C, XM_011532890.1:c.538G>T, XM_011532890.1:c.538G>C, XM_011532887.4:c.538G>T, XM_011532887.4:c.538G>C, XM_011532887.3:c.538G>T, XM_011532887.3:c.538G>C, XM_011532887.2:c.538G>T, XM_011532887.2:c.538G>C, XM_011532887.1:c.538G>T, XM_011532887.1:c.538G>C, XM_017004253.3:c.538G>T, XM_017004253.3:c.538G>C, XM_017004253.2:c.538G>T, XM_017004253.2:c.538G>C, XM_017004253.1:c.538G>T, XM_017004253.1:c.538G>C, XM_047444626.1:c.466G>T, XM_047444626.1:c.466G>C, XM_047444630.1:c.439G>T, XM_047444630.1:c.439G>C, XM_047444627.1:c.466G>T, XM_047444627.1:c.466G>C, XM_047444631.1:c.466G>T, XM_047444631.1:c.466G>C, XM_047444629.1:c.466G>T, XM_047444629.1:c.466G>C, XM_047444628.1:c.466G>T, XM_047444628.1:c.466G>C, XM_047444633.1:c.61G>T, XM_047444633.1:c.61G>C, XR_007076379.1:n.744G>T, XR_007076379.1:n.744G>C, XR_007076380.1:n.744G>T, XR_007076380.1:n.744G>C, XM_047444632.1:c.538G>T, XM_047444632.1:c.538G>C, XM_047444634.1:c.538G>T, XM_047444634.1:c.538G>C, NP_056994.3:p.Ala180Ser, NP_056994.3:p.Ala180Pro, NP_001036157.1:p.Ala21Ser, NP_001036157.1:p.Ala21Pro, NP_001340973.1:p.Ala156Ser, NP_001340973.1:p.Ala156Pro, NP_001340974.1:p.Ala180Ser, NP_001340974.1:p.Ala180Pro, XP_005264405.1:p.Ala180Ser, XP_005264405.1:p.Ala180Pro, XP_011531186.1:p.Ala180Ser, XP_011531186.1:p.Ala180Pro, XP_011531183.1:p.Ala156Ser, XP_011531183.1:p.Ala156Pro, XP_011531192.1:p.Ala180Ser, XP_011531192.1:p.Ala180Pro, XP_011531189.1:p.Ala180Ser, XP_011531189.1:p.Ala180Pro, XP_016859742.1:p.Ala180Ser, XP_016859742.1:p.Ala180Pro, XP_047300582.1:p.Ala156Ser, XP_047300582.1:p.Ala156Pro, XP_047300586.1:p.Ala147Ser, XP_047300586.1:p.Ala147Pro, XP_047300583.1:p.Ala156Ser, XP_047300583.1:p.Ala156Pro, XP_047300587.1:p.Ala156Ser, XP_047300587.1:p.Ala156Pro, XP_047300585.1:p.Ala156Ser, XP_047300585.1:p.Ala156Pro, XP_047300584.1:p.Ala156Ser, XP_047300584.1:p.Ala156Pro, XP_047300589.1:p.Ala21Ser, XP_047300589.1:p.Ala21Pro, XP_047300588.1:p.Ala180Ser, XP_047300588.1:p.Ala180Pro, XP_047300590.1:p.Ala180Ser, XP_047300590.1:p.Ala180Pro

            6.

            rs1477567359 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              TCG>- [Show Flanks]
              Chromosome:
              2:63433889 (GRCh38)
              2:63661023 (GRCh37)
              Canonical SPDI:
              NC_000002.12:63433887:GTCG:G
              Gene:
              WDPCP (Varview)
              Functional Consequence:
              inframe_deletion,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              -=0.000008/2 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.63433889_63433891del, NC_000002.11:g.63661023_63661025del, NG_028144.2:g.411936_411938del, NM_015910.7:c.680_682del, NM_015910.6:c.680_682del, NM_015910.5:c.680_682del, NM_001042692.3:c.203_205del, NM_001042692.2:c.203_205del, NM_001042692.1:c.203_205del, NM_001354044.2:c.608_610del, NM_001354044.1:c.608_610del, NR_148704.2:n.1138_1140del, NR_148704.1:n.1460_1462del, NR_148705.2:n.886_888del, NR_148705.1:n.1208_1210del, NR_122106.2:n.327_329del, NR_122106.1:n.327_329del, NM_001354045.2:c.680_682del, NM_001354045.1:c.680_682del, XM_005264348.5:c.680_682del, XM_005264348.4:c.680_682del, XM_005264348.3:c.680_682del, XM_005264348.2:c.680_682del, XM_005264348.1:c.680_682del, XM_011532884.4:c.680_682del, XM_011532884.3:c.680_682del, XM_011532884.2:c.680_682del, XM_011532884.1:c.680_682del, XM_011532881.4:c.608_610del, XM_011532881.3:c.608_610del, XM_011532881.2:c.608_610del, XM_011532881.1:c.608_610del, XM_011532890.4:c.680_682del, XM_011532890.3:c.680_682del, XM_011532890.2:c.680_682del, XM_011532890.1:c.680_682del, XM_011532887.4:c.680_682del, XM_011532887.3:c.680_682del, XM_011532887.2:c.680_682del, XM_011532887.1:c.680_682del, XM_017004253.3:c.680_682del, XM_017004253.2:c.680_682del, XM_017004253.1:c.680_682del, XM_047444626.1:c.608_610del, XM_047444630.1:c.581_583del, XM_047444627.1:c.608_610del, XM_047444631.1:c.608_610del, XM_047444629.1:c.608_610del, XM_047444628.1:c.608_610del, XM_047444633.1:c.203_205del, XR_007076379.1:n.886_888del, XR_007076380.1:n.886_888del, XM_047444632.1:c.680_682del, XM_047444634.1:c.680_682del, NP_056994.3:p.Arg227del, NP_001036157.1:p.Arg68del, NP_001340973.1:p.Arg203del, NP_001340974.1:p.Arg227del, XP_005264405.1:p.Arg227del, XP_011531186.1:p.Arg227del, XP_011531183.1:p.Arg203del, XP_011531192.1:p.Arg227del, XP_011531189.1:p.Arg227del, XP_016859742.1:p.Arg227del, XP_047300582.1:p.Arg203del, XP_047300586.1:p.Arg194del, XP_047300583.1:p.Arg203del, XP_047300587.1:p.Arg203del, XP_047300585.1:p.Arg203del, XP_047300584.1:p.Arg203del, XP_047300589.1:p.Arg68del, XP_047300588.1:p.Arg227del, XP_047300590.1:p.Arg227del

              7.

              rs1476483565 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>T [Show Flanks]
                Chromosome:
                2:63404323 (GRCh38)
                2:63631458 (GRCh37)
                Canonical SPDI:
                NC_000002.12:63404322:G:T
                Gene:
                WDPCP (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000002.12:g.63404323G>T, NC_000002.11:g.63631458G>T, NG_028144.2:g.441503C>A, NM_015910.7:c.1160C>A, NM_015910.6:c.1160C>A, NM_015910.5:c.1160C>A, NM_001042692.3:c.683C>A, NM_001042692.2:c.683C>A, NM_001042692.1:c.683C>A, NM_001354044.2:c.1088C>A, NM_001354044.1:c.1088C>A, NR_148704.2:n.1618C>A, NR_148704.1:n.1940C>A, NR_148705.2:n.1366C>A, NR_148705.1:n.1688C>A, NR_122106.2:n.807C>A, NR_122106.1:n.807C>A, NM_001354045.2:c.1160C>A, NM_001354045.1:c.1160C>A, XM_005264348.5:c.1160C>A, XM_005264348.4:c.1160C>A, XM_005264348.3:c.1160C>A, XM_005264348.2:c.1160C>A, XM_005264348.1:c.1160C>A, XM_011532884.4:c.1160C>A, XM_011532884.3:c.1160C>A, XM_011532884.2:c.1160C>A, XM_011532884.1:c.1160C>A, XM_011532881.4:c.1088C>A, XM_011532881.3:c.1088C>A, XM_011532881.2:c.1088C>A, XM_011532881.1:c.1088C>A, XM_011532890.4:c.1160C>A, XM_011532890.3:c.1160C>A, XM_011532890.2:c.1160C>A, XM_011532890.1:c.1160C>A, XM_011532887.4:c.1160C>A, XM_011532887.3:c.1160C>A, XM_011532887.2:c.1160C>A, XM_011532887.1:c.1160C>A, XM_017004253.3:c.1160C>A, XM_017004253.2:c.1160C>A, XM_017004253.1:c.1160C>A, XM_047444626.1:c.1088C>A, XM_047444630.1:c.1061C>A, XM_047444627.1:c.1088C>A, XM_047444631.1:c.1088C>A, XM_047444629.1:c.1088C>A, XM_047444628.1:c.1088C>A, XM_047444633.1:c.683C>A, XR_007076379.1:n.1366C>A, XR_007076380.1:n.1366C>A, XM_047444632.1:c.1160C>A, XM_047444634.1:c.1160C>A, NP_056994.3:p.Pro387Gln, NP_001036157.1:p.Pro228Gln, NP_001340973.1:p.Pro363Gln, NP_001340974.1:p.Pro387Gln, XP_005264405.1:p.Pro387Gln, XP_011531186.1:p.Pro387Gln, XP_011531183.1:p.Pro363Gln, XP_011531192.1:p.Pro387Gln, XP_011531189.1:p.Pro387Gln, XP_016859742.1:p.Pro387Gln, XP_047300582.1:p.Pro363Gln, XP_047300586.1:p.Pro354Gln, XP_047300583.1:p.Pro363Gln, XP_047300587.1:p.Pro363Gln, XP_047300585.1:p.Pro363Gln, XP_047300584.1:p.Pro363Gln, XP_047300589.1:p.Pro228Gln, XP_047300588.1:p.Pro387Gln, XP_047300590.1:p.Pro387Gln

                8.

                rs1475351110 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  2:63404388 (GRCh38)
                  2:63631523 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:63404387:T:C
                  Gene:
                  WDPCP (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                  Clinical significance:
                  likely-benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000002.12:g.63404388T>C, NC_000002.11:g.63631523T>C, NG_028144.2:g.441438A>G, NM_015910.7:c.1095A>G, NM_015910.6:c.1095A>G, NM_015910.5:c.1095A>G, NM_001042692.3:c.618A>G, NM_001042692.2:c.618A>G, NM_001042692.1:c.618A>G, NM_001354044.2:c.1023A>G, NM_001354044.1:c.1023A>G, NR_148704.2:n.1553A>G, NR_148704.1:n.1875A>G, NR_148705.2:n.1301A>G, NR_148705.1:n.1623A>G, NR_122106.2:n.742A>G, NR_122106.1:n.742A>G, NM_001354045.2:c.1095A>G, NM_001354045.1:c.1095A>G, XM_005264348.5:c.1095A>G, XM_005264348.4:c.1095A>G, XM_005264348.3:c.1095A>G, XM_005264348.2:c.1095A>G, XM_005264348.1:c.1095A>G, XM_011532884.4:c.1095A>G, XM_011532884.3:c.1095A>G, XM_011532884.2:c.1095A>G, XM_011532884.1:c.1095A>G, XM_011532881.4:c.1023A>G, XM_011532881.3:c.1023A>G, XM_011532881.2:c.1023A>G, XM_011532881.1:c.1023A>G, XM_011532890.4:c.1095A>G, XM_011532890.3:c.1095A>G, XM_011532890.2:c.1095A>G, XM_011532890.1:c.1095A>G, XM_011532887.4:c.1095A>G, XM_011532887.3:c.1095A>G, XM_011532887.2:c.1095A>G, XM_011532887.1:c.1095A>G, XM_017004253.3:c.1095A>G, XM_017004253.2:c.1095A>G, XM_017004253.1:c.1095A>G, XM_047444626.1:c.1023A>G, XM_047444630.1:c.996A>G, XM_047444627.1:c.1023A>G, XM_047444631.1:c.1023A>G, XM_047444629.1:c.1023A>G, XM_047444628.1:c.1023A>G, XM_047444633.1:c.618A>G, XR_007076379.1:n.1301A>G, XR_007076380.1:n.1301A>G, XM_047444632.1:c.1095A>G, XM_047444634.1:c.1095A>G

                  9.

                  rs1469275937 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    2:63404434 (GRCh38)
                    2:63631569 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:63404433:T:C
                    Gene:
                    WDPCP (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                    Clinical significance:
                    uncertain-significance
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000002.12:g.63404434T>C, NC_000002.11:g.63631569T>C, NG_028144.2:g.441392A>G, NM_015910.7:c.1049A>G, NM_015910.6:c.1049A>G, NM_015910.5:c.1049A>G, NM_001042692.3:c.572A>G, NM_001042692.2:c.572A>G, NM_001042692.1:c.572A>G, NM_001354044.2:c.977A>G, NM_001354044.1:c.977A>G, NR_148704.2:n.1507A>G, NR_148704.1:n.1829A>G, NR_148705.2:n.1255A>G, NR_148705.1:n.1577A>G, NR_122106.2:n.696A>G, NR_122106.1:n.696A>G, NM_001354045.2:c.1049A>G, NM_001354045.1:c.1049A>G, XM_005264348.5:c.1049A>G, XM_005264348.4:c.1049A>G, XM_005264348.3:c.1049A>G, XM_005264348.2:c.1049A>G, XM_005264348.1:c.1049A>G, XM_011532884.4:c.1049A>G, XM_011532884.3:c.1049A>G, XM_011532884.2:c.1049A>G, XM_011532884.1:c.1049A>G, XM_011532881.4:c.977A>G, XM_011532881.3:c.977A>G, XM_011532881.2:c.977A>G, XM_011532881.1:c.977A>G, XM_011532890.4:c.1049A>G, XM_011532890.3:c.1049A>G, XM_011532890.2:c.1049A>G, XM_011532890.1:c.1049A>G, XM_011532887.4:c.1049A>G, XM_011532887.3:c.1049A>G, XM_011532887.2:c.1049A>G, XM_011532887.1:c.1049A>G, XM_017004253.3:c.1049A>G, XM_017004253.2:c.1049A>G, XM_017004253.1:c.1049A>G, XM_047444626.1:c.977A>G, XM_047444630.1:c.950A>G, XM_047444627.1:c.977A>G, XM_047444631.1:c.977A>G, XM_047444629.1:c.977A>G, XM_047444628.1:c.977A>G, XM_047444633.1:c.572A>G, XR_007076379.1:n.1255A>G, XR_007076380.1:n.1255A>G, XM_047444632.1:c.1049A>G, XM_047444634.1:c.1049A>G, NP_056994.3:p.Asp350Gly, NP_001036157.1:p.Asp191Gly, NP_001340973.1:p.Asp326Gly, NP_001340974.1:p.Asp350Gly, XP_005264405.1:p.Asp350Gly, XP_011531186.1:p.Asp350Gly, XP_011531183.1:p.Asp326Gly, XP_011531192.1:p.Asp350Gly, XP_011531189.1:p.Asp350Gly, XP_016859742.1:p.Asp350Gly, XP_047300582.1:p.Asp326Gly, XP_047300586.1:p.Asp317Gly, XP_047300583.1:p.Asp326Gly, XP_047300587.1:p.Asp326Gly, XP_047300585.1:p.Asp326Gly, XP_047300584.1:p.Asp326Gly, XP_047300589.1:p.Asp191Gly, XP_047300588.1:p.Asp350Gly, XP_047300590.1:p.Asp350Gly

                    10.

                    rs1468559179 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      2:63404392 (GRCh38)
                      2:63631527 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:63404391:T:A
                      Gene:
                      WDPCP (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0.000111/1 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000002.12:g.63404392T>A, NC_000002.11:g.63631527T>A, NG_028144.2:g.441434A>T, NM_015910.7:c.1091A>T, NM_015910.6:c.1091A>T, NM_015910.5:c.1091A>T, NM_001042692.3:c.614A>T, NM_001042692.2:c.614A>T, NM_001042692.1:c.614A>T, NM_001354044.2:c.1019A>T, NM_001354044.1:c.1019A>T, NR_148704.2:n.1549A>T, NR_148704.1:n.1871A>T, NR_148705.2:n.1297A>T, NR_148705.1:n.1619A>T, NR_122106.2:n.738A>T, NR_122106.1:n.738A>T, NM_001354045.2:c.1091A>T, NM_001354045.1:c.1091A>T, XM_005264348.5:c.1091A>T, XM_005264348.4:c.1091A>T, XM_005264348.3:c.1091A>T, XM_005264348.2:c.1091A>T, XM_005264348.1:c.1091A>T, XM_011532884.4:c.1091A>T, XM_011532884.3:c.1091A>T, XM_011532884.2:c.1091A>T, XM_011532884.1:c.1091A>T, XM_011532881.4:c.1019A>T, XM_011532881.3:c.1019A>T, XM_011532881.2:c.1019A>T, XM_011532881.1:c.1019A>T, XM_011532890.4:c.1091A>T, XM_011532890.3:c.1091A>T, XM_011532890.2:c.1091A>T, XM_011532890.1:c.1091A>T, XM_011532887.4:c.1091A>T, XM_011532887.3:c.1091A>T, XM_011532887.2:c.1091A>T, XM_011532887.1:c.1091A>T, XM_017004253.3:c.1091A>T, XM_017004253.2:c.1091A>T, XM_017004253.1:c.1091A>T, XM_047444626.1:c.1019A>T, XM_047444630.1:c.992A>T, XM_047444627.1:c.1019A>T, XM_047444631.1:c.1019A>T, XM_047444629.1:c.1019A>T, XM_047444628.1:c.1019A>T, XM_047444633.1:c.614A>T, XR_007076379.1:n.1297A>T, XR_007076380.1:n.1297A>T, XM_047444632.1:c.1091A>T, XM_047444634.1:c.1091A>T, NP_056994.3:p.Tyr364Phe, NP_001036157.1:p.Tyr205Phe, NP_001340973.1:p.Tyr340Phe, NP_001340974.1:p.Tyr364Phe, XP_005264405.1:p.Tyr364Phe, XP_011531186.1:p.Tyr364Phe, XP_011531183.1:p.Tyr340Phe, XP_011531192.1:p.Tyr364Phe, XP_011531189.1:p.Tyr364Phe, XP_016859742.1:p.Tyr364Phe, XP_047300582.1:p.Tyr340Phe, XP_047300586.1:p.Tyr331Phe, XP_047300583.1:p.Tyr340Phe, XP_047300587.1:p.Tyr340Phe, XP_047300585.1:p.Tyr340Phe, XP_047300584.1:p.Tyr340Phe, XP_047300589.1:p.Tyr205Phe, XP_047300588.1:p.Tyr364Phe, XP_047300590.1:p.Tyr364Phe

                      11.

                      rs1468517777 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        2:63404227 (GRCh38)
                        2:63631362 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:63404226:T:C
                        Gene:
                        WDPCP (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.63404227T>C, NC_000002.11:g.63631362T>C, NG_028144.2:g.441599A>G, NM_015910.7:c.1256A>G, NM_015910.6:c.1256A>G, NM_015910.5:c.1256A>G, NM_001042692.3:c.779A>G, NM_001042692.2:c.779A>G, NM_001042692.1:c.779A>G, NM_001354044.2:c.1184A>G, NM_001354044.1:c.1184A>G, NR_148704.2:n.1714A>G, NR_148704.1:n.2036A>G, NR_148705.2:n.1462A>G, NR_148705.1:n.1784A>G, NR_122106.2:n.903A>G, NR_122106.1:n.903A>G, NM_001354045.2:c.1256A>G, NM_001354045.1:c.1256A>G, XM_005264348.5:c.1256A>G, XM_005264348.4:c.1256A>G, XM_005264348.3:c.1256A>G, XM_005264348.2:c.1256A>G, XM_005264348.1:c.1256A>G, XM_011532884.4:c.1256A>G, XM_011532884.3:c.1256A>G, XM_011532884.2:c.1256A>G, XM_011532884.1:c.1256A>G, XM_011532881.4:c.1184A>G, XM_011532881.3:c.1184A>G, XM_011532881.2:c.1184A>G, XM_011532881.1:c.1184A>G, XM_011532890.4:c.1256A>G, XM_011532890.3:c.1256A>G, XM_011532890.2:c.1256A>G, XM_011532890.1:c.1256A>G, XM_011532887.4:c.1256A>G, XM_011532887.3:c.1256A>G, XM_011532887.2:c.1256A>G, XM_011532887.1:c.1256A>G, XM_017004253.3:c.1256A>G, XM_017004253.2:c.1256A>G, XM_017004253.1:c.1256A>G, XM_047444626.1:c.1184A>G, XM_047444630.1:c.1157A>G, XM_047444627.1:c.1184A>G, XM_047444631.1:c.1184A>G, XM_047444629.1:c.1184A>G, XM_047444628.1:c.1184A>G, XM_047444633.1:c.779A>G, XR_007076379.1:n.1462A>G, XR_007076380.1:n.1462A>G, XM_047444632.1:c.1256A>G, XM_047444634.1:c.1256A>G, NP_056994.3:p.Asp419Gly, NP_001036157.1:p.Asp260Gly, NP_001340973.1:p.Asp395Gly, NP_001340974.1:p.Asp419Gly, XP_005264405.1:p.Asp419Gly, XP_011531186.1:p.Asp419Gly, XP_011531183.1:p.Asp395Gly, XP_011531192.1:p.Asp419Gly, XP_011531189.1:p.Asp419Gly, XP_016859742.1:p.Asp419Gly, XP_047300582.1:p.Asp395Gly, XP_047300586.1:p.Asp386Gly, XP_047300583.1:p.Asp395Gly, XP_047300587.1:p.Asp395Gly, XP_047300585.1:p.Asp395Gly, XP_047300584.1:p.Asp395Gly, XP_047300589.1:p.Asp260Gly, XP_047300588.1:p.Asp419Gly, XP_047300590.1:p.Asp419Gly

                        12.

                        rs1467347914 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          2:63404576 (GRCh38)
                          2:63631711 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:63404575:C:G
                          Gene:
                          WDPCP (Varview)
                          Functional Consequence:
                          coding_sequence_variant,non_coding_transcript_variant,missense_variant
                          HGVS:
                          NC_000002.12:g.63404576C>G, NC_000002.11:g.63631711C>G, NG_028144.2:g.441250G>C, NM_015910.7:c.907G>C, NM_015910.6:c.907G>C, NM_015910.5:c.907G>C, NM_001042692.3:c.430G>C, NM_001042692.2:c.430G>C, NM_001042692.1:c.430G>C, NM_001354044.2:c.835G>C, NM_001354044.1:c.835G>C, NR_148704.2:n.1365G>C, NR_148704.1:n.1687G>C, NR_148705.2:n.1113G>C, NR_148705.1:n.1435G>C, NR_122106.2:n.554G>C, NR_122106.1:n.554G>C, NM_001354045.2:c.907G>C, NM_001354045.1:c.907G>C, XM_005264348.5:c.907G>C, XM_005264348.4:c.907G>C, XM_005264348.3:c.907G>C, XM_005264348.2:c.907G>C, XM_005264348.1:c.907G>C, XM_011532884.4:c.907G>C, XM_011532884.3:c.907G>C, XM_011532884.2:c.907G>C, XM_011532884.1:c.907G>C, XM_011532881.4:c.835G>C, XM_011532881.3:c.835G>C, XM_011532881.2:c.835G>C, XM_011532881.1:c.835G>C, XM_011532890.4:c.907G>C, XM_011532890.3:c.907G>C, XM_011532890.2:c.907G>C, XM_011532890.1:c.907G>C, XM_011532887.4:c.907G>C, XM_011532887.3:c.907G>C, XM_011532887.2:c.907G>C, XM_011532887.1:c.907G>C, XM_017004253.3:c.907G>C, XM_017004253.2:c.907G>C, XM_017004253.1:c.907G>C, XM_047444626.1:c.835G>C, XM_047444630.1:c.808G>C, XM_047444627.1:c.835G>C, XM_047444631.1:c.835G>C, XM_047444629.1:c.835G>C, XM_047444628.1:c.835G>C, XM_047444633.1:c.430G>C, XR_007076379.1:n.1113G>C, XR_007076380.1:n.1113G>C, XM_047444632.1:c.907G>C, XM_047444634.1:c.907G>C, NP_056994.3:p.Glu303Gln, NP_001036157.1:p.Glu144Gln, NP_001340973.1:p.Glu279Gln, NP_001340974.1:p.Glu303Gln, XP_005264405.1:p.Glu303Gln, XP_011531186.1:p.Glu303Gln, XP_011531183.1:p.Glu279Gln, XP_011531192.1:p.Glu303Gln, XP_011531189.1:p.Glu303Gln, XP_016859742.1:p.Glu303Gln, XP_047300582.1:p.Glu279Gln, XP_047300586.1:p.Glu270Gln, XP_047300583.1:p.Glu279Gln, XP_047300587.1:p.Glu279Gln, XP_047300585.1:p.Glu279Gln, XP_047300584.1:p.Glu279Gln, XP_047300589.1:p.Glu144Gln, XP_047300588.1:p.Glu303Gln, XP_047300590.1:p.Glu303Gln

                          13.

                          rs1466311795 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>G [Show Flanks]
                            Chromosome:
                            2:63308854 (GRCh38)
                            2:63535989 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:63308853:A:G
                            Gene:
                            WDPCP (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            G=0./0 (ALFA)
                            G=0.000004/1 (TOPMED)
                            HGVS:

                            14.

                            rs1465998709 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              2:63588245 (GRCh38)
                              2:63815379 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:63588244:G:A
                              Gene:
                              MDH1 (Varview), WDPCP (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000002.12:g.63588245G>A, NC_000002.11:g.63815379G>A, NG_028144.2:g.257581C>T, NM_015910.7:c.27C>T, NM_015910.6:c.27C>T, NM_015910.5:c.27C>T, NM_001354044.2:c.-298C>T, NM_001354044.1:c.-298C>T, NR_148704.2:n.233C>T, NR_148704.1:n.555C>T, NR_148705.2:n.233C>T, NR_148705.1:n.555C>T, NM_001354045.2:c.27C>T, NM_001354045.1:c.27C>T, XM_005264348.5:c.27C>T, XM_005264348.4:c.27C>T, XM_005264348.3:c.27C>T, XM_005264348.2:c.27C>T, XM_005264348.1:c.27C>T, XM_011532884.4:c.27C>T, XM_011532884.3:c.27C>T, XM_011532884.2:c.27C>T, XM_011532884.1:c.27C>T, XM_011532881.4:c.-298C>T, XM_011532881.3:c.-298C>T, XM_011532881.2:c.-298C>T, XM_011532881.1:c.-298C>T, XM_011532890.4:c.27C>T, XM_011532890.3:c.27C>T, XM_011532890.2:c.27C>T, XM_011532890.1:c.27C>T, XM_011532887.4:c.27C>T, XM_011532887.3:c.27C>T, XM_011532887.2:c.27C>T, XM_011532887.1:c.27C>T, XM_017004253.3:c.27C>T, XM_017004253.2:c.27C>T, XM_017004253.1:c.27C>T, XR_007076379.1:n.233C>T, XR_007076380.1:n.233C>T, XM_047444632.1:c.27C>T, XM_047444634.1:c.27C>T

                              15.

                              rs1462790647 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                2:63439769 (GRCh38)
                                2:63666903 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:63439768:T:C
                                Gene:
                                WDPCP (Varview)
                                Functional Consequence:
                                upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0.000047/1 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000002.12:g.63439769T>C, NC_000002.11:g.63666903T>C, NG_028144.2:g.406057A>G, NM_015910.7:c.487A>G, NM_015910.6:c.487A>G, NM_015910.5:c.487A>G, NM_001354044.2:c.415A>G, NM_001354044.1:c.415A>G, NR_148704.2:n.945A>G, NR_148704.1:n.1267A>G, NR_148705.2:n.693A>G, NR_148705.1:n.1015A>G, NM_001354045.2:c.487A>G, NM_001354045.1:c.487A>G, XM_005264348.5:c.487A>G, XM_005264348.4:c.487A>G, XM_005264348.3:c.487A>G, XM_005264348.2:c.487A>G, XM_005264348.1:c.487A>G, XM_011532884.4:c.487A>G, XM_011532884.3:c.487A>G, XM_011532884.2:c.487A>G, XM_011532884.1:c.487A>G, XM_011532881.4:c.415A>G, XM_011532881.3:c.415A>G, XM_011532881.2:c.415A>G, XM_011532881.1:c.415A>G, XM_011532890.4:c.487A>G, XM_011532890.3:c.487A>G, XM_011532890.2:c.487A>G, XM_011532890.1:c.487A>G, XM_011532887.4:c.487A>G, XM_011532887.3:c.487A>G, XM_011532887.2:c.487A>G, XM_011532887.1:c.487A>G, XM_017004253.3:c.487A>G, XM_017004253.2:c.487A>G, XM_017004253.1:c.487A>G, XM_047444626.1:c.415A>G, XM_047444630.1:c.388A>G, XM_047444627.1:c.415A>G, XM_047444631.1:c.415A>G, XM_047444629.1:c.415A>G, XM_047444628.1:c.415A>G, XR_007076379.1:n.693A>G, XR_007076380.1:n.693A>G, XM_047444632.1:c.487A>G, XM_047444634.1:c.487A>G, NP_056994.3:p.Thr163Ala, NP_001340973.1:p.Thr139Ala, NP_001340974.1:p.Thr163Ala, XP_005264405.1:p.Thr163Ala, XP_011531186.1:p.Thr163Ala, XP_011531183.1:p.Thr139Ala, XP_011531192.1:p.Thr163Ala, XP_011531189.1:p.Thr163Ala, XP_016859742.1:p.Thr163Ala, XP_047300582.1:p.Thr139Ala, XP_047300586.1:p.Thr130Ala, XP_047300583.1:p.Thr139Ala, XP_047300587.1:p.Thr139Ala, XP_047300585.1:p.Thr139Ala, XP_047300584.1:p.Thr139Ala, XP_047300588.1:p.Thr163Ala, XP_047300590.1:p.Thr163Ala

                                16.

                                rs1462636982 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  2:63382019 (GRCh38)
                                  2:63609154 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:63382018:G:A
                                  Gene:
                                  WDPCP (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000004/1 (TOPMED)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.63382019G>A, NC_000002.11:g.63609154G>A, NG_028144.2:g.463807C>T, NM_015910.7:c.1511C>T, NM_015910.6:c.1511C>T, NM_015910.5:c.1511C>T, NM_001042692.3:c.1034C>T, NM_001042692.2:c.1034C>T, NM_001042692.1:c.1034C>T, NM_001354044.2:c.1439C>T, NM_001354044.1:c.1439C>T, NR_148704.2:n.1969C>T, NR_148704.1:n.2291C>T, NR_148705.2:n.1717C>T, NR_148705.1:n.2039C>T, NR_122106.2:n.1158C>T, NR_122106.1:n.1158C>T, NM_001354045.2:c.1511C>T, NM_001354045.1:c.1511C>T, XM_005264348.5:c.1511C>T, XM_005264348.4:c.1511C>T, XM_005264348.3:c.1511C>T, XM_005264348.2:c.1511C>T, XM_005264348.1:c.1511C>T, XM_011532884.4:c.1511C>T, XM_011532884.3:c.1511C>T, XM_011532884.2:c.1511C>T, XM_011532884.1:c.1511C>T, XM_011532881.4:c.1439C>T, XM_011532881.3:c.1439C>T, XM_011532881.2:c.1439C>T, XM_011532881.1:c.1439C>T, XM_011532890.4:c.1511C>T, XM_011532890.3:c.1511C>T, XM_011532890.2:c.1511C>T, XM_011532890.1:c.1511C>T, XM_011532887.4:c.1511C>T, XM_011532887.3:c.1511C>T, XM_011532887.2:c.1511C>T, XM_011532887.1:c.1511C>T, XM_017004253.3:c.1511C>T, XM_017004253.2:c.1511C>T, XM_017004253.1:c.1511C>T, XM_047444626.1:c.1439C>T, XM_047444630.1:c.1412C>T, XM_047444627.1:c.1439C>T, XM_047444631.1:c.1439C>T, XM_047444629.1:c.1439C>T, XM_047444628.1:c.1439C>T, XM_047444633.1:c.1034C>T, XR_007076379.1:n.1717C>T, XR_007076380.1:n.1717C>T, XM_047444632.1:c.1511C>T, XM_047444634.1:c.1511C>T, NP_056994.3:p.Ala504Val, NP_001036157.1:p.Ala345Val, NP_001340973.1:p.Ala480Val, NP_001340974.1:p.Ala504Val, XP_005264405.1:p.Ala504Val, XP_011531186.1:p.Ala504Val, XP_011531183.1:p.Ala480Val, XP_011531192.1:p.Ala504Val, XP_011531189.1:p.Ala504Val, XP_016859742.1:p.Ala504Val, XP_047300582.1:p.Ala480Val, XP_047300586.1:p.Ala471Val, XP_047300583.1:p.Ala480Val, XP_047300587.1:p.Ala480Val, XP_047300585.1:p.Ala480Val, XP_047300584.1:p.Ala480Val, XP_047300589.1:p.Ala345Val, XP_047300588.1:p.Ala504Val, XP_047300590.1:p.Ala504Val

                                  17.

                                  rs1462024913 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A [Show Flanks]
                                    Chromosome:
                                    2:63404357 (GRCh38)
                                    2:63631492 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:63404356:T:A
                                    Gene:
                                    WDPCP (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,non_coding_transcript_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000002.12:g.63404357T>A, NC_000002.11:g.63631492T>A, NG_028144.2:g.441469A>T, NM_015910.7:c.1126A>T, NM_015910.6:c.1126A>T, NM_015910.5:c.1126A>T, NM_001042692.3:c.649A>T, NM_001042692.2:c.649A>T, NM_001042692.1:c.649A>T, NM_001354044.2:c.1054A>T, NM_001354044.1:c.1054A>T, NR_148704.2:n.1584A>T, NR_148704.1:n.1906A>T, NR_148705.2:n.1332A>T, NR_148705.1:n.1654A>T, NR_122106.2:n.773A>T, NR_122106.1:n.773A>T, NM_001354045.2:c.1126A>T, NM_001354045.1:c.1126A>T, XM_005264348.5:c.1126A>T, XM_005264348.4:c.1126A>T, XM_005264348.3:c.1126A>T, XM_005264348.2:c.1126A>T, XM_005264348.1:c.1126A>T, XM_011532884.4:c.1126A>T, XM_011532884.3:c.1126A>T, XM_011532884.2:c.1126A>T, XM_011532884.1:c.1126A>T, XM_011532881.4:c.1054A>T, XM_011532881.3:c.1054A>T, XM_011532881.2:c.1054A>T, XM_011532881.1:c.1054A>T, XM_011532890.4:c.1126A>T, XM_011532890.3:c.1126A>T, XM_011532890.2:c.1126A>T, XM_011532890.1:c.1126A>T, XM_011532887.4:c.1126A>T, XM_011532887.3:c.1126A>T, XM_011532887.2:c.1126A>T, XM_011532887.1:c.1126A>T, XM_017004253.3:c.1126A>T, XM_017004253.2:c.1126A>T, XM_017004253.1:c.1126A>T, XM_047444626.1:c.1054A>T, XM_047444630.1:c.1027A>T, XM_047444627.1:c.1054A>T, XM_047444631.1:c.1054A>T, XM_047444629.1:c.1054A>T, XM_047444628.1:c.1054A>T, XM_047444633.1:c.649A>T, XR_007076379.1:n.1332A>T, XR_007076380.1:n.1332A>T, XM_047444632.1:c.1126A>T, XM_047444634.1:c.1126A>T, NP_056994.3:p.Thr376Ser, NP_001036157.1:p.Thr217Ser, NP_001340973.1:p.Thr352Ser, NP_001340974.1:p.Thr376Ser, XP_005264405.1:p.Thr376Ser, XP_011531186.1:p.Thr376Ser, XP_011531183.1:p.Thr352Ser, XP_011531192.1:p.Thr376Ser, XP_011531189.1:p.Thr376Ser, XP_016859742.1:p.Thr376Ser, XP_047300582.1:p.Thr352Ser, XP_047300586.1:p.Thr343Ser, XP_047300583.1:p.Thr352Ser, XP_047300587.1:p.Thr352Ser, XP_047300585.1:p.Thr352Ser, XP_047300584.1:p.Thr352Ser, XP_047300589.1:p.Thr217Ser, XP_047300588.1:p.Thr376Ser, XP_047300590.1:p.Thr376Ser

                                    18.

                                    rs1458939612 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      2:63404371 (GRCh38)
                                      2:63631506 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:63404370:G:A
                                      Gene:
                                      WDPCP (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (GnomAD_exomes)
                                      A=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000002.12:g.63404371G>A, NC_000002.11:g.63631506G>A, NG_028144.2:g.441455C>T, NM_015910.7:c.1112C>T, NM_015910.6:c.1112C>T, NM_015910.5:c.1112C>T, NM_001042692.3:c.635C>T, NM_001042692.2:c.635C>T, NM_001042692.1:c.635C>T, NM_001354044.2:c.1040C>T, NM_001354044.1:c.1040C>T, NR_148704.2:n.1570C>T, NR_148704.1:n.1892C>T, NR_148705.2:n.1318C>T, NR_148705.1:n.1640C>T, NR_122106.2:n.759C>T, NR_122106.1:n.759C>T, NM_001354045.2:c.1112C>T, NM_001354045.1:c.1112C>T, XM_005264348.5:c.1112C>T, XM_005264348.4:c.1112C>T, XM_005264348.3:c.1112C>T, XM_005264348.2:c.1112C>T, XM_005264348.1:c.1112C>T, XM_011532884.4:c.1112C>T, XM_011532884.3:c.1112C>T, XM_011532884.2:c.1112C>T, XM_011532884.1:c.1112C>T, XM_011532881.4:c.1040C>T, XM_011532881.3:c.1040C>T, XM_011532881.2:c.1040C>T, XM_011532881.1:c.1040C>T, XM_011532890.4:c.1112C>T, XM_011532890.3:c.1112C>T, XM_011532890.2:c.1112C>T, XM_011532890.1:c.1112C>T, XM_011532887.4:c.1112C>T, XM_011532887.3:c.1112C>T, XM_011532887.2:c.1112C>T, XM_011532887.1:c.1112C>T, XM_017004253.3:c.1112C>T, XM_017004253.2:c.1112C>T, XM_017004253.1:c.1112C>T, XM_047444626.1:c.1040C>T, XM_047444630.1:c.1013C>T, XM_047444627.1:c.1040C>T, XM_047444631.1:c.1040C>T, XM_047444629.1:c.1040C>T, XM_047444628.1:c.1040C>T, XM_047444633.1:c.635C>T, XR_007076379.1:n.1318C>T, XR_007076380.1:n.1318C>T, XM_047444632.1:c.1112C>T, XM_047444634.1:c.1112C>T, NP_056994.3:p.Thr371Ile, NP_001036157.1:p.Thr212Ile, NP_001340973.1:p.Thr347Ile, NP_001340974.1:p.Thr371Ile, XP_005264405.1:p.Thr371Ile, XP_011531186.1:p.Thr371Ile, XP_011531183.1:p.Thr347Ile, XP_011531192.1:p.Thr371Ile, XP_011531189.1:p.Thr371Ile, XP_016859742.1:p.Thr371Ile, XP_047300582.1:p.Thr347Ile, XP_047300586.1:p.Thr338Ile, XP_047300583.1:p.Thr347Ile, XP_047300587.1:p.Thr347Ile, XP_047300585.1:p.Thr347Ile, XP_047300584.1:p.Thr347Ile, XP_047300589.1:p.Thr212Ile, XP_047300588.1:p.Thr371Ile, XP_047300590.1:p.Thr371Ile

                                      19.

                                      rs1458647975 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        2:63378419 (GRCh38)
                                        2:63605554 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:63378418:T:G
                                        Gene:
                                        WDPCP (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.63378419T>G, NC_000002.11:g.63605554T>G, NG_028144.2:g.467407A>C, NM_015910.7:c.1715A>C, NM_015910.6:c.1715A>C, NM_015910.5:c.1715A>C, NM_001042692.3:c.1238A>C, NM_001042692.2:c.1238A>C, NM_001042692.1:c.1238A>C, NM_001354044.2:c.1643A>C, NM_001354044.1:c.1643A>C, NR_148704.2:n.2173A>C, NR_148704.1:n.2495A>C, NR_148705.2:n.1921A>C, NR_148705.1:n.2243A>C, NR_122106.2:n.1362A>C, NR_122106.1:n.1362A>C, NM_001354045.2:c.1715A>C, NM_001354045.1:c.1715A>C, XM_005264348.5:c.1715A>C, XM_005264348.4:c.1715A>C, XM_005264348.3:c.1715A>C, XM_005264348.2:c.1715A>C, XM_005264348.1:c.1715A>C, XM_011532884.4:c.1715A>C, XM_011532884.3:c.1715A>C, XM_011532884.2:c.1715A>C, XM_011532884.1:c.1715A>C, XM_011532881.4:c.1643A>C, XM_011532881.3:c.1643A>C, XM_011532881.2:c.1643A>C, XM_011532881.1:c.1643A>C, XM_011532890.4:c.1715A>C, XM_011532890.3:c.1715A>C, XM_011532890.2:c.1715A>C, XM_011532890.1:c.1715A>C, XM_011532887.4:c.1715A>C, XM_011532887.3:c.1715A>C, XM_011532887.2:c.1715A>C, XM_011532887.1:c.1715A>C, XM_017004253.3:c.1715A>C, XM_017004253.2:c.1715A>C, XM_017004253.1:c.1715A>C, XM_047444626.1:c.1643A>C, XM_047444630.1:c.1616A>C, XM_047444627.1:c.1643A>C, XM_047444631.1:c.1643A>C, XM_047444629.1:c.1643A>C, XM_047444628.1:c.1643A>C, XM_047444633.1:c.1238A>C, XR_007076379.1:n.1921A>C, XR_007076380.1:n.1921A>C, XM_047444632.1:c.1715A>C, XM_047444634.1:c.*81A>C, NP_056994.3:p.Lys572Thr, NP_001036157.1:p.Lys413Thr, NP_001340973.1:p.Lys548Thr, NP_001340974.1:p.Lys572Thr, XP_005264405.1:p.Lys572Thr, XP_011531186.1:p.Lys572Thr, XP_011531183.1:p.Lys548Thr, XP_011531192.1:p.Lys572Thr, XP_011531189.1:p.Lys572Thr, XP_016859742.1:p.Lys572Thr, XP_047300582.1:p.Lys548Thr, XP_047300586.1:p.Lys539Thr, XP_047300583.1:p.Lys548Thr, XP_047300587.1:p.Lys548Thr, XP_047300585.1:p.Lys548Thr, XP_047300584.1:p.Lys548Thr, XP_047300589.1:p.Lys413Thr, XP_047300588.1:p.Lys572Thr

                                        20.

                                        rs1455098597 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G,T [Show Flanks]
                                          Chromosome:
                                          2:63404534 (GRCh38)
                                          2:63631669 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:63404533:A:G,NC_000002.12:63404533:A:T
                                          Gene:
                                          WDPCP (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          HGVS:
                                          NC_000002.12:g.63404534A>G, NC_000002.12:g.63404534A>T, NC_000002.11:g.63631669A>G, NC_000002.11:g.63631669A>T, NG_028144.2:g.441292T>C, NG_028144.2:g.441292T>A, NM_015910.7:c.949T>C, NM_015910.7:c.949T>A, NM_015910.6:c.949T>C, NM_015910.6:c.949T>A, NM_015910.5:c.949T>C, NM_015910.5:c.949T>A, NM_001042692.3:c.472T>C, NM_001042692.3:c.472T>A, NM_001042692.2:c.472T>C, NM_001042692.2:c.472T>A, NM_001042692.1:c.472T>C, NM_001042692.1:c.472T>A, NM_001354044.2:c.877T>C, NM_001354044.2:c.877T>A, NM_001354044.1:c.877T>C, NM_001354044.1:c.877T>A, NR_148704.2:n.1407T>C, NR_148704.2:n.1407T>A, NR_148704.1:n.1729T>C, NR_148704.1:n.1729T>A, NR_148705.2:n.1155T>C, NR_148705.2:n.1155T>A, NR_148705.1:n.1477T>C, NR_148705.1:n.1477T>A, NR_122106.2:n.596T>C, NR_122106.2:n.596T>A, NR_122106.1:n.596T>C, NR_122106.1:n.596T>A, NM_001354045.2:c.949T>C, NM_001354045.2:c.949T>A, NM_001354045.1:c.949T>C, NM_001354045.1:c.949T>A, XM_005264348.5:c.949T>C, XM_005264348.5:c.949T>A, XM_005264348.4:c.949T>C, XM_005264348.4:c.949T>A, XM_005264348.3:c.949T>C, XM_005264348.3:c.949T>A, XM_005264348.2:c.949T>C, XM_005264348.2:c.949T>A, XM_005264348.1:c.949T>C, XM_005264348.1:c.949T>A, XM_011532884.4:c.949T>C, XM_011532884.4:c.949T>A, XM_011532884.3:c.949T>C, XM_011532884.3:c.949T>A, XM_011532884.2:c.949T>C, XM_011532884.2:c.949T>A, XM_011532884.1:c.949T>C, XM_011532884.1:c.949T>A, XM_011532881.4:c.877T>C, XM_011532881.4:c.877T>A, XM_011532881.3:c.877T>C, XM_011532881.3:c.877T>A, XM_011532881.2:c.877T>C, XM_011532881.2:c.877T>A, XM_011532881.1:c.877T>C, XM_011532881.1:c.877T>A, XM_011532890.4:c.949T>C, XM_011532890.4:c.949T>A, XM_011532890.3:c.949T>C, XM_011532890.3:c.949T>A, XM_011532890.2:c.949T>C, XM_011532890.2:c.949T>A, XM_011532890.1:c.949T>C, XM_011532890.1:c.949T>A, XM_011532887.4:c.949T>C, XM_011532887.4:c.949T>A, XM_011532887.3:c.949T>C, XM_011532887.3:c.949T>A, XM_011532887.2:c.949T>C, XM_011532887.2:c.949T>A, XM_011532887.1:c.949T>C, XM_011532887.1:c.949T>A, XM_017004253.3:c.949T>C, XM_017004253.3:c.949T>A, XM_017004253.2:c.949T>C, XM_017004253.2:c.949T>A, XM_017004253.1:c.949T>C, XM_017004253.1:c.949T>A, XM_047444626.1:c.877T>C, XM_047444626.1:c.877T>A, XM_047444630.1:c.850T>C, XM_047444630.1:c.850T>A, XM_047444627.1:c.877T>C, XM_047444627.1:c.877T>A, XM_047444631.1:c.877T>C, XM_047444631.1:c.877T>A, XM_047444629.1:c.877T>C, XM_047444629.1:c.877T>A, XM_047444628.1:c.877T>C, XM_047444628.1:c.877T>A, XM_047444633.1:c.472T>C, XM_047444633.1:c.472T>A, XR_007076379.1:n.1155T>C, XR_007076379.1:n.1155T>A, XR_007076380.1:n.1155T>C, XR_007076380.1:n.1155T>A, XM_047444632.1:c.949T>C, XM_047444632.1:c.949T>A, XM_047444634.1:c.949T>C, XM_047444634.1:c.949T>A, NP_056994.3:p.Cys317Arg, NP_056994.3:p.Cys317Ser, NP_001036157.1:p.Cys158Arg, NP_001036157.1:p.Cys158Ser, NP_001340973.1:p.Cys293Arg, NP_001340973.1:p.Cys293Ser, NP_001340974.1:p.Cys317Arg, NP_001340974.1:p.Cys317Ser, XP_005264405.1:p.Cys317Arg, XP_005264405.1:p.Cys317Ser, XP_011531186.1:p.Cys317Arg, XP_011531186.1:p.Cys317Ser, XP_011531183.1:p.Cys293Arg, XP_011531183.1:p.Cys293Ser, XP_011531192.1:p.Cys317Arg, XP_011531192.1:p.Cys317Ser, XP_011531189.1:p.Cys317Arg, XP_011531189.1:p.Cys317Ser, XP_016859742.1:p.Cys317Arg, XP_016859742.1:p.Cys317Ser, XP_047300582.1:p.Cys293Arg, XP_047300582.1:p.Cys293Ser, XP_047300586.1:p.Cys284Arg, XP_047300586.1:p.Cys284Ser, XP_047300583.1:p.Cys293Arg, XP_047300583.1:p.Cys293Ser, XP_047300587.1:p.Cys293Arg, XP_047300587.1:p.Cys293Ser, XP_047300585.1:p.Cys293Arg, XP_047300585.1:p.Cys293Ser, XP_047300584.1:p.Cys293Arg, XP_047300584.1:p.Cys293Ser, XP_047300589.1:p.Cys158Arg, XP_047300589.1:p.Cys158Ser, XP_047300588.1:p.Cys317Arg, XP_047300588.1:p.Cys317Ser, XP_047300590.1:p.Cys317Arg, XP_047300590.1:p.Cys317Ser

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