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Links from Protein

Items: 1 to 20 of 535

1.

rs1487704035 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    16:15018889 (GRCh38)
    16:15112746 (GRCh37)
    Canonical SPDI:
    NC_000016.10:15018888:C:G
    Gene:
    PDXDC1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000007/1 (GnomAD)
    G=0.000008/2 (TOPMED)
    HGVS:
    NC_000016.10:g.15018889C>G, NC_000016.9:g.15112746C>G, NT_187607.1:g.858233C>G, NM_015027.4:c.1013C>G, NM_015027.3:c.1013C>G, NM_015027.2:c.1013C>G, NM_001285444.2:c.932C>G, NM_001285444.1:c.932C>G, XM_006720865.3:c.887C>G, XM_006720865.2:c.887C>G, XM_006720865.1:c.986C>G, NM_001285445.2:c.929C>G, NM_001285445.1:c.929C>G, XM_017023063.2:c.968C>G, XM_017023063.1:c.968C>G, NM_001285450.2:c.944C>G, NM_001285450.1:c.944C>G, NM_001285449.2:c.1013C>G, NM_001285449.1:c.1013C>G, NM_001324020.2:c.1010C>G, NM_001324020.1:c.1010C>G, XM_017023065.2:c.968C>G, XM_017023065.1:c.968C>G, NM_001324021.2:c.932C>G, NM_001324021.1:c.932C>G, XM_024450195.2:c.968C>G, XM_024450195.1:c.1067C>G, XM_024450194.2:c.968C>G, XM_024450194.1:c.968C>G, XM_024450197.2:c.887C>G, XM_024450197.1:c.887C>G, NM_001285448.1:c.740C>G, XM_047433788.1:c.887C>G, XM_047433789.1:c.1013C>G, XM_047433790.1:c.887C>G, NM_001324019.2:c.1010C>G, NM_001324019.1:c.1010C>G, XM_017023061.3:c.968C>G, XM_017023061.2:c.968C>G, XM_017023061.1:c.968C>G, XM_017023059.2:c.968C>G, XM_017023059.1:c.968C>G, XM_017023060.2:c.1040C>G, XM_017023060.1:c.1040C>G, XM_047433791.1:c.1040C>G, NM_001285447.1:c.968C>G, XM_047442849.1:c.1067C>G, XM_047442865.1:c.1013C>G, XM_047442859.1:c.1067C>G, XM_047442864.1:c.1067C>G, XM_047442851.1:c.1040C>G, XM_047442853.1:c.1013C>G, XM_047442858.1:c.959C>G, XM_047442861.1:c.932C>G, XM_047442857.1:c.968C>G, XM_047442850.1:c.1055C>G, XM_047442855.1:c.887C>G, XM_047442862.1:c.1040C>G, XM_047442863.1:c.1040C>G, XM_047442866.1:c.1013C>G, XM_047442854.1:c.968C>G, XM_047442869.1:c.932C>G, XM_047442852.1:c.968C>G, XM_047442860.1:c.1055C>G, XM_047442868.1:c.932C>G, XR_007068665.1:n.1142C>G, XM_047442867.1:c.1013C>G, XM_047442870.1:c.932C>G, XM_047442856.1:c.968C>G, NP_055842.2:p.Ala338Gly, NP_001272373.1:p.Ala311Gly, XP_006720928.2:p.Ala296Gly, NP_001272374.1:p.Ala310Gly, XP_016878552.1:p.Ala323Gly, NP_001272379.1:p.Ala315Gly, NP_001272378.1:p.Ala338Gly, NP_001310949.1:p.Ala337Gly, XP_016878554.1:p.Ala323Gly, NP_001310950.1:p.Ala311Gly, XP_024305963.2:p.Ala323Gly, XP_024305962.1:p.Ala323Gly, XP_024305965.1:p.Ala296Gly, NP_001272377.1:p.Ala247Gly, XP_047289744.1:p.Ala296Gly, XP_047289745.1:p.Ala338Gly, XP_047289746.1:p.Ala296Gly, NP_001310948.1:p.Ala337Gly, XP_016878550.1:p.Ala323Gly, XP_016878548.1:p.Ala323Gly, XP_016878549.1:p.Ala347Gly, XP_047289747.1:p.Ala347Gly, NP_001272376.1:p.Ala323Gly

    2.

    rs1487607771 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      A>C [Show Flanks]
      Chromosome:
      16:15006464 (GRCh38)
      16:15100321 (GRCh37)
      Canonical SPDI:
      NC_000016.10:15006463:A:C
      Gene:
      PDXDC1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (GnomAD_exomes)
      C=0.000004/1 (TOPMED)
      HGVS:
      NC_000016.10:g.15006464A>C, NC_000016.9:g.15100321A>C, NT_187607.1:g.845817A>C, NM_015027.4:c.460A>C, NM_015027.3:c.460A>C, NM_015027.2:c.460A>C, NM_001285444.2:c.379A>C, NM_001285444.1:c.379A>C, XM_006720865.3:c.334A>C, XM_006720865.2:c.334A>C, XM_006720865.1:c.433A>C, NM_001285445.2:c.376A>C, NM_001285445.1:c.376A>C, XM_017023063.2:c.415A>C, XM_017023063.1:c.415A>C, NM_001285450.2:c.460A>C, NM_001285450.1:c.460A>C, NM_001285449.2:c.460A>C, NM_001285449.1:c.460A>C, NM_001324020.2:c.457A>C, NM_001324020.1:c.457A>C, XM_017023065.2:c.415A>C, XM_017023065.1:c.415A>C, NM_001324021.2:c.379A>C, NM_001324021.1:c.379A>C, XM_024450195.2:c.415A>C, XM_024450195.1:c.514A>C, XM_024450194.2:c.415A>C, XM_024450194.1:c.415A>C, XM_024450197.2:c.334A>C, XM_024450197.1:c.334A>C, NM_001285448.1:c.187A>C, XM_047433788.1:c.334A>C, XM_047433789.1:c.460A>C, XM_047433790.1:c.334A>C, NM_001324019.2:c.457A>C, NM_001324019.1:c.457A>C, XM_017023061.3:c.415A>C, XM_017023061.2:c.415A>C, XM_017023061.1:c.415A>C, XM_017023059.2:c.415A>C, XM_017023059.1:c.415A>C, XM_017023060.2:c.487A>C, XM_017023060.1:c.487A>C, XM_047433791.1:c.487A>C, NM_001285447.1:c.415A>C, XM_047442849.1:c.514A>C, XM_047442865.1:c.460A>C, XM_047442859.1:c.514A>C, XM_047442864.1:c.514A>C, XM_047442851.1:c.487A>C, XM_047442853.1:c.460A>C, XM_047442858.1:c.406A>C, XM_047442861.1:c.379A>C, XM_047442857.1:c.415A>C, XM_047442850.1:c.502A>C, XM_047442855.1:c.334A>C, XM_047442862.1:c.487A>C, XM_047442863.1:c.487A>C, XM_047442866.1:c.460A>C, XM_047442854.1:c.415A>C, XM_047442869.1:c.379A>C, XM_047442852.1:c.415A>C, XM_047442860.1:c.502A>C, XM_047442868.1:c.379A>C, XR_007068665.1:n.589A>C, XM_047442867.1:c.460A>C, XM_047442870.1:c.379A>C, XM_047442856.1:c.415A>C, NP_055842.2:p.Ile154Leu, NP_001272373.1:p.Ile127Leu, XP_006720928.2:p.Ile112Leu, NP_001272374.1:p.Ile126Leu, XP_016878552.1:p.Ile139Leu, NP_001272379.1:p.Ile154Leu, NP_001272378.1:p.Ile154Leu, NP_001310949.1:p.Ile153Leu, XP_016878554.1:p.Ile139Leu, NP_001310950.1:p.Ile127Leu, XP_024305963.2:p.Ile139Leu, XP_024305962.1:p.Ile139Leu, XP_024305965.1:p.Ile112Leu, NP_001272377.1:p.Ile63Leu, XP_047289744.1:p.Ile112Leu, XP_047289745.1:p.Ile154Leu, XP_047289746.1:p.Ile112Leu, NP_001310948.1:p.Ile153Leu, XP_016878550.1:p.Ile139Leu, XP_016878548.1:p.Ile139Leu, XP_016878549.1:p.Ile163Leu, XP_047289747.1:p.Ile163Leu, NP_001272376.1:p.Ile139Leu

      3.

      rs1486540460 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        16:15001837 (GRCh38)
        16:15095694 (GRCh37)
        Canonical SPDI:
        NC_000016.10:15001836:G:A
        Gene:
        PDXDC1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.00014/2 (TOMMO)
        HGVS:
        NC_000016.10:g.15001837G>A, NC_000016.9:g.15095694G>A, NT_187607.1:g.841184G>A, NM_015027.4:c.223G>A, NM_015027.3:c.223G>A, NM_015027.2:c.223G>A, XM_017023063.2:c.178G>A, XM_017023063.1:c.178G>A, NM_001285450.2:c.223G>A, NM_001285450.1:c.223G>A, NM_001285449.2:c.223G>A, NM_001285449.1:c.223G>A, NM_001324020.2:c.220G>A, NM_001324020.1:c.220G>A, XM_017023065.2:c.178G>A, XM_017023065.1:c.178G>A, XM_024450195.2:c.178G>A, XM_024450195.1:c.277G>A, XM_024450194.2:c.178G>A, XM_024450194.1:c.178G>A, XM_047433789.1:c.223G>A, NM_001324019.2:c.220G>A, NM_001324019.1:c.220G>A, XM_017023061.3:c.178G>A, XM_017023061.2:c.178G>A, XM_017023061.1:c.178G>A, XM_017023059.2:c.178G>A, XM_017023059.1:c.178G>A, XM_017023060.2:c.250G>A, XM_017023060.1:c.250G>A, XM_047433791.1:c.250G>A, NM_001285447.1:c.178G>A, XM_047442849.1:c.277G>A, XM_047442865.1:c.223G>A, XM_047442859.1:c.277G>A, XM_047442864.1:c.277G>A, XM_047442851.1:c.250G>A, XM_047442853.1:c.223G>A, XM_047442857.1:c.178G>A, XM_047442850.1:c.265G>A, XM_047442862.1:c.250G>A, XM_047442863.1:c.250G>A, XM_047442866.1:c.223G>A, XM_047442854.1:c.178G>A, XM_047442852.1:c.178G>A, XM_047442860.1:c.265G>A, XR_007068665.1:n.352G>A, XM_047442867.1:c.223G>A, XM_047442856.1:c.178G>A, NP_055842.2:p.Glu75Lys, XP_016878552.1:p.Glu60Lys, NP_001272379.1:p.Glu75Lys, NP_001272378.1:p.Glu75Lys, NP_001310949.1:p.Glu74Lys, XP_016878554.1:p.Glu60Lys, XP_024305963.2:p.Glu60Lys, XP_024305962.1:p.Glu60Lys, XP_047289745.1:p.Glu75Lys, NP_001310948.1:p.Glu74Lys, XP_016878550.1:p.Glu60Lys, XP_016878548.1:p.Glu60Lys, XP_016878549.1:p.Glu84Lys, XP_047289747.1:p.Glu84Lys, NP_001272376.1:p.Glu60Lys

        4.

        rs1486124969 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          AAGATG>- [Show Flanks]
          Chromosome:
          16:14997804 (GRCh38)
          16:15091661 (GRCh37)
          Canonical SPDI:
          NC_000016.10:14997801:TGAAGATG:TG
          Gene:
          PDXDC1 (Varview)
          Functional Consequence:
          coding_sequence_variant,inframe_deletion
          Validated:
          by frequency,by alfa
          MAF:
          TG=0.000071/1 (ALFA)
          -=0.000004/1 (TOPMED)
          HGVS:
          NC_000016.10:g.14997804_14997809del, NC_000016.9:g.15091661_15091666del, NT_187607.1:g.837151_837156del, NM_015027.4:c.73_78del, NM_015027.3:c.73_78del, NM_015027.2:c.73_78del, NM_001285444.2:c.73_78del, NM_001285444.1:c.73_78del, XM_006720865.3:c.28_33del, XM_006720865.2:c.28_33del, XM_006720865.1:c.127_132del, NM_001285445.2:c.73_78del, NM_001285445.1:c.73_78del, XM_017023063.2:c.28_33del, XM_017023063.1:c.28_33del, NM_001285450.2:c.73_78del, NM_001285450.1:c.73_78del, NM_001285449.2:c.73_78del, NM_001285449.1:c.73_78del, NM_001324020.2:c.73_78del, NM_001324020.1:c.73_78del, XM_017023065.2:c.28_33del, XM_017023065.1:c.28_33del, NM_001324021.2:c.73_78del, NM_001324021.1:c.73_78del, XM_024450195.2:c.28_33del, XM_024450195.1:c.127_132del, XM_024450194.2:c.28_33del, XM_024450194.1:c.28_33del, XM_024450197.2:c.28_33del, XM_024450197.1:c.28_33del, NM_001285448.1:c.28_33del, XM_047433788.1:c.28_33del, XM_047433789.1:c.73_78del, XM_047433790.1:c.28_33del, NM_001324019.2:c.73_78del, NM_001324019.1:c.73_78del, XM_017023061.3:c.28_33del, XM_017023061.2:c.28_33del, XM_017023061.1:c.28_33del, XM_017023059.2:c.28_33del, XM_017023059.1:c.28_33del, XM_017023060.2:c.100_105del, XM_017023060.1:c.100_105del, XM_047433791.1:c.100_105del, NM_001285447.1:c.28_33del, XM_047442849.1:c.127_132del, XM_047442865.1:c.73_78del, XM_047442859.1:c.127_132del, XM_047442864.1:c.127_132del, XM_047442851.1:c.100_105del, XM_047442853.1:c.73_78del, XM_047442858.1:c.100_105del, XM_047442861.1:c.73_78del, XM_047442857.1:c.28_33del, XM_047442850.1:c.115_120del, XM_047442855.1:c.28_33del, XM_047442862.1:c.100_105del, XM_047442863.1:c.100_105del, XM_047442866.1:c.73_78del, XM_047442854.1:c.28_33del, XM_047442869.1:c.73_78del, XM_047442852.1:c.28_33del, XM_047442860.1:c.115_120del, XM_047442868.1:c.73_78del, XR_007068665.1:n.202_207del, XM_047442867.1:c.73_78del, XM_047442870.1:c.73_78del, XM_047442856.1:c.28_33del, NP_055842.2:p.Lys25_Met26del, NP_001272373.1:p.Lys25_Met26del, XP_006720928.2:p.Lys10_Met11del, NP_001272374.1:p.Lys25_Met26del, XP_016878552.1:p.Lys10_Met11del, NP_001272379.1:p.Lys25_Met26del, NP_001272378.1:p.Lys25_Met26del, NP_001310949.1:p.Lys25_Met26del, XP_016878554.1:p.Lys10_Met11del, NP_001310950.1:p.Lys25_Met26del, XP_024305963.2:p.Lys10_Met11del, XP_024305962.1:p.Lys10_Met11del, XP_024305965.1:p.Lys10_Met11del, NP_001272377.1:p.Lys10_Met11del, XP_047289744.1:p.Lys10_Met11del, XP_047289745.1:p.Lys25_Met26del, XP_047289746.1:p.Lys10_Met11del, NP_001310948.1:p.Lys25_Met26del, XP_016878550.1:p.Lys10_Met11del, XP_016878548.1:p.Lys10_Met11del, XP_016878549.1:p.Lys34_Met35del, XP_047289747.1:p.Lys34_Met35del, NP_001272376.1:p.Lys10_Met11del

          5.

          rs1483684697 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            ->TTAC [Show Flanks]
            Chromosome:
            16:15018854 (GRCh38)
            16:15112712 (GRCh37)
            Canonical SPDI:
            NC_000016.10:15018854:CTTAC:CTTACTTAC
            Gene:
            PDXDC1 (Varview)
            Functional Consequence:
            coding_sequence_variant,frameshift_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            CTTACTTAC=0./0 (ALFA)
            CTTA=0.000004/1 (GnomAD_exomes)
            CTTA=0.000004/1 (TOPMED)
            HGVS:
            NC_000016.10:g.15018856_15018859dup, NC_000016.9:g.15112713_15112716dup, NT_187607.1:g.858200_858203dup, NM_015027.4:c.980_983dup, NM_015027.3:c.980_983dup, NM_015027.2:c.980_983dup, NM_001285444.2:c.899_902dup, NM_001285444.1:c.899_902dup, XM_006720865.3:c.854_857dup, XM_006720865.2:c.854_857dup, XM_006720865.1:c.953_956dup, NM_001285445.2:c.896_899dup, NM_001285445.1:c.896_899dup, XM_017023063.2:c.935_938dup, XM_017023063.1:c.935_938dup, NM_001285450.2:c.911_914dup, NM_001285450.1:c.911_914dup, NM_001285449.2:c.980_983dup, NM_001285449.1:c.980_983dup, NM_001324020.2:c.977_980dup, NM_001324020.1:c.977_980dup, XM_017023065.2:c.935_938dup, XM_017023065.1:c.935_938dup, NM_001324021.2:c.899_902dup, NM_001324021.1:c.899_902dup, XM_024450195.2:c.935_938dup, XM_024450195.1:c.1034_1037dup, XM_024450194.2:c.935_938dup, XM_024450194.1:c.935_938dup, XM_024450197.2:c.854_857dup, XM_024450197.1:c.854_857dup, NM_001285448.1:c.707_710dup, XM_047433788.1:c.854_857dup, XM_047433789.1:c.980_983dup, XM_047433790.1:c.854_857dup, NM_001324019.2:c.977_980dup, NM_001324019.1:c.977_980dup, XM_017023061.3:c.935_938dup, XM_017023061.2:c.935_938dup, XM_017023061.1:c.935_938dup, XM_017023059.2:c.935_938dup, XM_017023059.1:c.935_938dup, XM_017023060.2:c.1007_1010dup, XM_017023060.1:c.1007_1010dup, XM_047433791.1:c.1007_1010dup, NM_001285447.1:c.935_938dup, XM_047442849.1:c.1034_1037dup, XM_047442865.1:c.980_983dup, XM_047442859.1:c.1034_1037dup, XM_047442864.1:c.1034_1037dup, XM_047442851.1:c.1007_1010dup, XM_047442853.1:c.980_983dup, XM_047442858.1:c.926_929dup, XM_047442861.1:c.899_902dup, XM_047442857.1:c.935_938dup, XM_047442850.1:c.1022_1025dup, XM_047442855.1:c.854_857dup, XM_047442862.1:c.1007_1010dup, XM_047442863.1:c.1007_1010dup, XM_047442866.1:c.980_983dup, XM_047442854.1:c.935_938dup, XM_047442869.1:c.899_902dup, XM_047442852.1:c.935_938dup, XM_047442860.1:c.1022_1025dup, XM_047442868.1:c.899_902dup, XR_007068665.1:n.1109_1112dup, XM_047442867.1:c.980_983dup, XM_047442870.1:c.899_902dup, XM_047442856.1:c.935_938dup, NP_055842.2:p.Ser329fs, NP_001272373.1:p.Ser302fs, XP_006720928.2:p.Ser287fs, NP_001272374.1:p.Ser301fs, XP_016878552.1:p.Ser314fs, NP_001272379.1:p.Ser306fs, NP_001272378.1:p.Ser329fs, NP_001310949.1:p.Ser328fs, XP_016878554.1:p.Ser314fs, NP_001310950.1:p.Ser302fs, XP_024305963.2:p.Ser314fs, XP_024305962.1:p.Ser314fs, XP_024305965.1:p.Ser287fs, NP_001272377.1:p.Ser238fs, XP_047289744.1:p.Ser287fs, XP_047289745.1:p.Ser329fs, XP_047289746.1:p.Ser287fs, NP_001310948.1:p.Ser328fs, XP_016878550.1:p.Ser314fs, XP_016878548.1:p.Ser314fs, XP_016878549.1:p.Ser338fs, XP_047289747.1:p.Ser338fs, NP_001272376.1:p.Ser314fs

            6.

            rs1483475208 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              16:15017346 (GRCh38)
              16:15111203 (GRCh37)
              Canonical SPDI:
              NC_000016.10:15017345:C:T
              Gene:
              PDXDC1 (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0.00006/1 (ALFA)
              HGVS:
              NC_000016.10:g.15017346C>T, NC_000016.9:g.15111203C>T, NT_187607.1:g.856690C>T, NM_015027.4:c.887C>T, NM_015027.3:c.887C>T, NM_015027.2:c.887C>T, NM_001285444.2:c.806C>T, NM_001285444.1:c.806C>T, XM_006720865.3:c.761C>T, XM_006720865.2:c.761C>T, XM_006720865.1:c.860C>T, NM_001285445.2:c.803C>T, NM_001285445.1:c.803C>T, XM_017023063.2:c.842C>T, XM_017023063.1:c.842C>T, NM_001285450.2:c.818C>T, NM_001285450.1:c.818C>T, NM_001285449.2:c.887C>T, NM_001285449.1:c.887C>T, NM_001324020.2:c.884C>T, NM_001324020.1:c.884C>T, XM_017023065.2:c.842C>T, XM_017023065.1:c.842C>T, NM_001324021.2:c.806C>T, NM_001324021.1:c.806C>T, XM_024450195.2:c.842C>T, XM_024450195.1:c.941C>T, XM_024450194.2:c.842C>T, XM_024450194.1:c.842C>T, XM_024450197.2:c.761C>T, XM_024450197.1:c.761C>T, NM_001285448.1:c.614C>T, XM_047433788.1:c.761C>T, XM_047433789.1:c.887C>T, XM_047433790.1:c.761C>T, NM_001324019.2:c.884C>T, NM_001324019.1:c.884C>T, XM_017023061.3:c.842C>T, XM_017023061.2:c.842C>T, XM_017023061.1:c.842C>T, XM_017023059.2:c.842C>T, XM_017023059.1:c.842C>T, XM_017023060.2:c.914C>T, XM_017023060.1:c.914C>T, XM_047433791.1:c.914C>T, NM_001285447.1:c.842C>T, XM_047442849.1:c.941C>T, XM_047442865.1:c.887C>T, XM_047442859.1:c.941C>T, XM_047442864.1:c.941C>T, XM_047442851.1:c.914C>T, XM_047442853.1:c.887C>T, XM_047442858.1:c.833C>T, XM_047442861.1:c.806C>T, XM_047442857.1:c.842C>T, XM_047442850.1:c.929C>T, XM_047442855.1:c.761C>T, XM_047442862.1:c.914C>T, XM_047442863.1:c.914C>T, XM_047442866.1:c.887C>T, XM_047442854.1:c.842C>T, XM_047442869.1:c.806C>T, XM_047442852.1:c.842C>T, XM_047442860.1:c.929C>T, XM_047442868.1:c.806C>T, XR_007068665.1:n.1016C>T, XM_047442867.1:c.887C>T, XM_047442870.1:c.806C>T, XM_047442856.1:c.842C>T, NP_055842.2:p.Thr296Met, NP_001272373.1:p.Thr269Met, XP_006720928.2:p.Thr254Met, NP_001272374.1:p.Thr268Met, XP_016878552.1:p.Thr281Met, NP_001272379.1:p.Thr273Met, NP_001272378.1:p.Thr296Met, NP_001310949.1:p.Thr295Met, XP_016878554.1:p.Thr281Met, NP_001310950.1:p.Thr269Met, XP_024305963.2:p.Thr281Met, XP_024305962.1:p.Thr281Met, XP_024305965.1:p.Thr254Met, NP_001272377.1:p.Thr205Met, XP_047289744.1:p.Thr254Met, XP_047289745.1:p.Thr296Met, XP_047289746.1:p.Thr254Met, NP_001310948.1:p.Thr295Met, XP_016878550.1:p.Thr281Met, XP_016878548.1:p.Thr281Met, XP_016878549.1:p.Thr305Met, XP_047289747.1:p.Thr305Met, NP_001272376.1:p.Thr281Met

              7.

              rs1481855218 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                A>-,AA [Show Flanks]
                Chromosome:
                16:14997782 (GRCh38)
                16:15091639 (GRCh37)
                Canonical SPDI:
                NC_000016.10:14997781:AAAAAA:AAAAA,NC_000016.10:14997781:AAAAAA:AAAAAAA
                Gene:
                PDXDC1 (Varview)
                Functional Consequence:
                coding_sequence_variant,frameshift_variant
                Validated:
                by frequency,by alfa
                MAF:
                AAAAAAA=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                HGVS:
                NC_000016.10:g.14997787del, NC_000016.10:g.14997787dup, NC_000016.9:g.15091644del, NC_000016.9:g.15091644dup, NT_187607.1:g.837134del, NT_187607.1:g.837134dup, NM_015027.4:c.56del, NM_015027.4:c.56dup, NM_015027.3:c.56del, NM_015027.3:c.56dup, NM_015027.2:c.56del, NM_015027.2:c.56dup, NM_001285444.2:c.56del, NM_001285444.2:c.56dup, NM_001285444.1:c.56del, NM_001285444.1:c.56dup, XM_006720865.3:c.11del, XM_006720865.3:c.11dup, XM_006720865.2:c.11del, XM_006720865.2:c.11dup, XM_006720865.1:c.110del, XM_006720865.1:c.110dup, NM_001285445.2:c.56del, NM_001285445.2:c.56dup, NM_001285445.1:c.56del, NM_001285445.1:c.56dup, XM_017023063.2:c.11del, XM_017023063.2:c.11dup, XM_017023063.1:c.11del, XM_017023063.1:c.11dup, NM_001285450.2:c.56del, NM_001285450.2:c.56dup, NM_001285450.1:c.56del, NM_001285450.1:c.56dup, NM_001285449.2:c.56del, NM_001285449.2:c.56dup, NM_001285449.1:c.56del, NM_001285449.1:c.56dup, NM_001324020.2:c.56del, NM_001324020.2:c.56dup, NM_001324020.1:c.56del, NM_001324020.1:c.56dup, XM_017023065.2:c.11del, XM_017023065.2:c.11dup, XM_017023065.1:c.11del, XM_017023065.1:c.11dup, NM_001324021.2:c.56del, NM_001324021.2:c.56dup, NM_001324021.1:c.56del, NM_001324021.1:c.56dup, XM_024450195.2:c.11del, XM_024450195.2:c.11dup, XM_024450195.1:c.110del, XM_024450195.1:c.110dup, XM_024450194.2:c.11del, XM_024450194.2:c.11dup, XM_024450194.1:c.11del, XM_024450194.1:c.11dup, XM_024450197.2:c.11del, XM_024450197.2:c.11dup, XM_024450197.1:c.11del, XM_024450197.1:c.11dup, NM_001285448.1:c.11del, NM_001285448.1:c.11dup, XM_047433788.1:c.11del, XM_047433788.1:c.11dup, XM_047433789.1:c.56del, XM_047433789.1:c.56dup, XM_047433790.1:c.11del, XM_047433790.1:c.11dup, NM_001324019.2:c.56del, NM_001324019.2:c.56dup, NM_001324019.1:c.56del, NM_001324019.1:c.56dup, XM_017023061.3:c.11del, XM_017023061.3:c.11dup, XM_017023061.2:c.11del, XM_017023061.2:c.11dup, XM_017023061.1:c.11del, XM_017023061.1:c.11dup, XM_017023059.2:c.11del, XM_017023059.2:c.11dup, XM_017023059.1:c.11del, XM_017023059.1:c.11dup, XM_017023060.2:c.83del, XM_017023060.2:c.83dup, XM_017023060.1:c.83del, XM_017023060.1:c.83dup, XM_047433791.1:c.83del, XM_047433791.1:c.83dup, NM_001285447.1:c.11del, NM_001285447.1:c.11dup, XM_047442849.1:c.110del, XM_047442849.1:c.110dup, XM_047442865.1:c.56del, XM_047442865.1:c.56dup, XM_047442859.1:c.110del, XM_047442859.1:c.110dup, XM_047442864.1:c.110del, XM_047442864.1:c.110dup, XM_047442851.1:c.83del, XM_047442851.1:c.83dup, XM_047442853.1:c.56del, XM_047442853.1:c.56dup, XM_047442858.1:c.83del, XM_047442858.1:c.83dup, XM_047442861.1:c.56del, XM_047442861.1:c.56dup, XM_047442857.1:c.11del, XM_047442857.1:c.11dup, XM_047442850.1:c.98del, XM_047442850.1:c.98dup, XM_047442855.1:c.11del, XM_047442855.1:c.11dup, XM_047442862.1:c.83del, XM_047442862.1:c.83dup, XM_047442863.1:c.83del, XM_047442863.1:c.83dup, XM_047442866.1:c.56del, XM_047442866.1:c.56dup, XM_047442854.1:c.11del, XM_047442854.1:c.11dup, XM_047442869.1:c.56del, XM_047442869.1:c.56dup, XM_047442852.1:c.11del, XM_047442852.1:c.11dup, XM_047442860.1:c.98del, XM_047442860.1:c.98dup, XM_047442868.1:c.56del, XM_047442868.1:c.56dup, XR_007068665.1:n.185del, XR_007068665.1:n.185dup, XM_047442867.1:c.56del, XM_047442867.1:c.56dup, XM_047442870.1:c.56del, XM_047442870.1:c.56dup, XM_047442856.1:c.11del, XM_047442856.1:c.11dup, NP_055842.2:p.Asn19fs, NP_055842.2:p.Asn19fs, NP_001272373.1:p.Asn19fs, NP_001272373.1:p.Asn19fs, XP_006720928.2:p.Asn4fs, XP_006720928.2:p.Asn4fs, NP_001272374.1:p.Asn19fs, NP_001272374.1:p.Asn19fs, XP_016878552.1:p.Asn4fs, XP_016878552.1:p.Asn4fs, NP_001272379.1:p.Asn19fs, NP_001272379.1:p.Asn19fs, NP_001272378.1:p.Asn19fs, NP_001272378.1:p.Asn19fs, NP_001310949.1:p.Asn19fs, NP_001310949.1:p.Asn19fs, XP_016878554.1:p.Asn4fs, XP_016878554.1:p.Asn4fs, NP_001310950.1:p.Asn19fs, NP_001310950.1:p.Asn19fs, XP_024305963.2:p.Asn4fs, XP_024305963.2:p.Asn4fs, XP_024305962.1:p.Asn4fs, XP_024305962.1:p.Asn4fs, XP_024305965.1:p.Asn4fs, XP_024305965.1:p.Asn4fs, NP_001272377.1:p.Asn4fs, NP_001272377.1:p.Asn4fs, XP_047289744.1:p.Asn4fs, XP_047289744.1:p.Asn4fs, XP_047289745.1:p.Asn19fs, XP_047289745.1:p.Asn19fs, XP_047289746.1:p.Asn4fs, XP_047289746.1:p.Asn4fs, NP_001310948.1:p.Asn19fs, NP_001310948.1:p.Asn19fs, XP_016878550.1:p.Asn4fs, XP_016878550.1:p.Asn4fs, XP_016878548.1:p.Asn4fs, XP_016878548.1:p.Asn4fs, XP_016878549.1:p.Asn28fs, XP_016878549.1:p.Asn28fs, XP_047289747.1:p.Asn28fs, XP_047289747.1:p.Asn28fs, NP_001272376.1:p.Asn4fs, NP_001272376.1:p.Asn4fs

                8.

                rs1481675815 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  16:15028889 (GRCh38)
                  16:15122746 (GRCh37)
                  Canonical SPDI:
                  NC_000016.10:15028888:A:C
                  Gene:
                  PDXDC1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (GnomAD_exomes)
                  C=0.000053/14 (TOPMED)
                  HGVS:
                  NC_000016.10:g.15028889A>C, NC_000016.9:g.15122746A>C, NT_187607.1:g.868234A>C, NM_015027.4:c.1216A>C, NM_015027.3:c.1216A>C, NM_015027.2:c.1216A>C, NM_001285444.2:c.1135A>C, NM_001285444.1:c.1135A>C, XM_006720865.3:c.1090A>C, XM_006720865.2:c.1090A>C, XM_006720865.1:c.1189A>C, NM_001285445.2:c.1132A>C, NM_001285445.1:c.1132A>C, XM_017023063.2:c.1171A>C, XM_017023063.1:c.1171A>C, NM_001285450.2:c.1147A>C, NM_001285450.1:c.1147A>C, NM_001285449.2:c.1216A>C, NM_001285449.1:c.1216A>C, NM_001324020.2:c.1213A>C, NM_001324020.1:c.1213A>C, XM_017023065.2:c.1171A>C, XM_017023065.1:c.1171A>C, NM_001324021.2:c.1135A>C, NM_001324021.1:c.1135A>C, XM_024450195.2:c.1171A>C, XM_024450195.1:c.1270A>C, XM_024450194.2:c.1171A>C, XM_024450194.1:c.1171A>C, XM_024450197.2:c.1090A>C, XM_024450197.1:c.1090A>C, NM_001285448.1:c.943A>C, XM_047433788.1:c.1090A>C, XM_047433789.1:c.1216A>C, XM_047433790.1:c.1090A>C, NM_001324019.2:c.1213A>C, NM_001324019.1:c.1213A>C, XM_017023061.3:c.1171A>C, XM_017023061.2:c.1171A>C, XM_017023061.1:c.1171A>C, XM_017023059.2:c.1171A>C, XM_017023059.1:c.1171A>C, XM_017023060.2:c.1243A>C, XM_017023060.1:c.1243A>C, XM_047433791.1:c.1243A>C, NM_001285447.1:c.1171A>C, XM_047442849.1:c.1270A>C, XM_047442865.1:c.1216A>C, XM_047442859.1:c.1270A>C, XM_047442864.1:c.1270A>C, XM_047442851.1:c.1243A>C, XM_047442853.1:c.1216A>C, XM_047442858.1:c.1162A>C, XM_047442861.1:c.1135A>C, XM_047442857.1:c.1171A>C, XM_047442850.1:c.1258A>C, XM_047442855.1:c.1090A>C, XM_047442862.1:c.1243A>C, XM_047442863.1:c.1243A>C, XM_047442866.1:c.1216A>C, XM_047442854.1:c.1171A>C, XM_047442869.1:c.1135A>C, XM_047442852.1:c.1171A>C, XM_047442860.1:c.1258A>C, XM_047442868.1:c.1135A>C, XR_007068665.1:n.1345A>C, XM_047442867.1:c.1216A>C, XM_047442870.1:c.1135A>C, XM_047442856.1:c.1171A>C, NP_055842.2:p.Lys406Gln, NP_001272373.1:p.Lys379Gln, XP_006720928.2:p.Lys364Gln, NP_001272374.1:p.Lys378Gln, XP_016878552.1:p.Lys391Gln, NP_001272379.1:p.Lys383Gln, NP_001272378.1:p.Lys406Gln, NP_001310949.1:p.Lys405Gln, XP_016878554.1:p.Lys391Gln, NP_001310950.1:p.Lys379Gln, XP_024305963.2:p.Lys391Gln, XP_024305962.1:p.Lys391Gln, XP_024305965.1:p.Lys364Gln, NP_001272377.1:p.Lys315Gln, XP_047289744.1:p.Lys364Gln, XP_047289745.1:p.Lys406Gln, XP_047289746.1:p.Lys364Gln, NP_001310948.1:p.Lys405Gln, XP_016878550.1:p.Lys391Gln, XP_016878548.1:p.Lys391Gln, XP_016878549.1:p.Lys415Gln, XP_047289747.1:p.Lys415Gln, NP_001272376.1:p.Lys391Gln

                  9.

                  rs1481598875 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    16:15006410 (GRCh38)
                    16:15100267 (GRCh37)
                    Canonical SPDI:
                    NC_000016.10:15006409:G:A
                    Gene:
                    PDXDC1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000016.10:g.15006410G>A, NC_000016.9:g.15100267G>A, NT_187607.1:g.845763G>A, NM_015027.4:c.406G>A, NM_015027.3:c.406G>A, NM_015027.2:c.406G>A, NM_001285444.2:c.325G>A, NM_001285444.1:c.325G>A, XM_006720865.3:c.280G>A, XM_006720865.2:c.280G>A, XM_006720865.1:c.379G>A, NM_001285445.2:c.322G>A, NM_001285445.1:c.322G>A, XM_017023063.2:c.361G>A, XM_017023063.1:c.361G>A, NM_001285450.2:c.406G>A, NM_001285450.1:c.406G>A, NM_001285449.2:c.406G>A, NM_001285449.1:c.406G>A, NM_001324020.2:c.403G>A, NM_001324020.1:c.403G>A, XM_017023065.2:c.361G>A, XM_017023065.1:c.361G>A, NM_001324021.2:c.325G>A, NM_001324021.1:c.325G>A, XM_024450195.2:c.361G>A, XM_024450195.1:c.460G>A, XM_024450194.2:c.361G>A, XM_024450194.1:c.361G>A, XM_024450197.2:c.280G>A, XM_024450197.1:c.280G>A, NM_001285448.1:c.133G>A, XM_047433788.1:c.280G>A, XM_047433789.1:c.406G>A, XM_047433790.1:c.280G>A, NM_001324019.2:c.403G>A, NM_001324019.1:c.403G>A, XM_017023061.3:c.361G>A, XM_017023061.2:c.361G>A, XM_017023061.1:c.361G>A, XM_017023059.2:c.361G>A, XM_017023059.1:c.361G>A, XM_017023060.2:c.433G>A, XM_017023060.1:c.433G>A, XM_047433791.1:c.433G>A, NM_001285447.1:c.361G>A, XM_047442849.1:c.460G>A, XM_047442865.1:c.406G>A, XM_047442859.1:c.460G>A, XM_047442864.1:c.460G>A, XM_047442851.1:c.433G>A, XM_047442853.1:c.406G>A, XM_047442858.1:c.352G>A, XM_047442861.1:c.325G>A, XM_047442857.1:c.361G>A, XM_047442850.1:c.448G>A, XM_047442855.1:c.280G>A, XM_047442862.1:c.433G>A, XM_047442863.1:c.433G>A, XM_047442866.1:c.406G>A, XM_047442854.1:c.361G>A, XM_047442869.1:c.325G>A, XM_047442852.1:c.361G>A, XM_047442860.1:c.448G>A, XM_047442868.1:c.325G>A, XR_007068665.1:n.535G>A, XM_047442867.1:c.406G>A, XM_047442870.1:c.325G>A, XM_047442856.1:c.361G>A, NP_055842.2:p.Ala136Thr, NP_001272373.1:p.Ala109Thr, XP_006720928.2:p.Ala94Thr, NP_001272374.1:p.Ala108Thr, XP_016878552.1:p.Ala121Thr, NP_001272379.1:p.Ala136Thr, NP_001272378.1:p.Ala136Thr, NP_001310949.1:p.Ala135Thr, XP_016878554.1:p.Ala121Thr, NP_001310950.1:p.Ala109Thr, XP_024305963.2:p.Ala121Thr, XP_024305962.1:p.Ala121Thr, XP_024305965.1:p.Ala94Thr, NP_001272377.1:p.Ala45Thr, XP_047289744.1:p.Ala94Thr, XP_047289745.1:p.Ala136Thr, XP_047289746.1:p.Ala94Thr, NP_001310948.1:p.Ala135Thr, XP_016878550.1:p.Ala121Thr, XP_016878548.1:p.Ala121Thr, XP_016878549.1:p.Ala145Thr, XP_047289747.1:p.Ala145Thr, NP_001272376.1:p.Ala121Thr

                    10.

                    rs1478521238 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>C [Show Flanks]
                      Chromosome:
                      16:15001791 (GRCh38)
                      16:15095648 (GRCh37)
                      Canonical SPDI:
                      NC_000016.10:15001790:G:C
                      Gene:
                      PDXDC1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,synonymous_variant
                      HGVS:
                      NC_000016.10:g.15001791G>C, NC_000016.9:g.15095648G>C, NT_187607.1:g.841138G>C, NM_015027.4:c.177G>C, NM_015027.3:c.177G>C, NM_015027.2:c.177G>C, XM_017023063.2:c.132G>C, XM_017023063.1:c.132G>C, NM_001285450.2:c.177G>C, NM_001285450.1:c.177G>C, NM_001285449.2:c.177G>C, NM_001285449.1:c.177G>C, NM_001324020.2:c.174G>C, NM_001324020.1:c.174G>C, XM_017023065.2:c.132G>C, XM_017023065.1:c.132G>C, XM_024450195.2:c.132G>C, XM_024450195.1:c.231G>C, XM_024450194.2:c.132G>C, XM_024450194.1:c.132G>C, XM_047433789.1:c.177G>C, NM_001324019.2:c.174G>C, NM_001324019.1:c.174G>C, XM_017023061.3:c.132G>C, XM_017023061.2:c.132G>C, XM_017023061.1:c.132G>C, XM_017023059.2:c.132G>C, XM_017023059.1:c.132G>C, XM_017023060.2:c.204G>C, XM_017023060.1:c.204G>C, XM_047433791.1:c.204G>C, NM_001285447.1:c.132G>C, XM_047442849.1:c.231G>C, XM_047442865.1:c.177G>C, XM_047442859.1:c.231G>C, XM_047442864.1:c.231G>C, XM_047442851.1:c.204G>C, XM_047442853.1:c.177G>C, XM_047442857.1:c.132G>C, XM_047442850.1:c.219G>C, XM_047442862.1:c.204G>C, XM_047442863.1:c.204G>C, XM_047442866.1:c.177G>C, XM_047442854.1:c.132G>C, XM_047442852.1:c.132G>C, XM_047442860.1:c.219G>C, XR_007068665.1:n.306G>C, XM_047442867.1:c.177G>C, XM_047442856.1:c.132G>C

                      11.

                      rs1476462885 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        16:15018884 (GRCh38)
                        16:15112741 (GRCh37)
                        Canonical SPDI:
                        NC_000016.10:15018883:C:A
                        Gene:
                        PDXDC1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        HGVS:
                        NC_000016.10:g.15018884C>A, NC_000016.9:g.15112741C>A, NT_187607.1:g.858228C>A, NM_015027.4:c.1008C>A, NM_015027.3:c.1008C>A, NM_015027.2:c.1008C>A, NM_001285444.2:c.927C>A, NM_001285444.1:c.927C>A, XM_006720865.3:c.882C>A, XM_006720865.2:c.882C>A, XM_006720865.1:c.981C>A, NM_001285445.2:c.924C>A, NM_001285445.1:c.924C>A, XM_017023063.2:c.963C>A, XM_017023063.1:c.963C>A, NM_001285450.2:c.939C>A, NM_001285450.1:c.939C>A, NM_001285449.2:c.1008C>A, NM_001285449.1:c.1008C>A, NM_001324020.2:c.1005C>A, NM_001324020.1:c.1005C>A, XM_017023065.2:c.963C>A, XM_017023065.1:c.963C>A, NM_001324021.2:c.927C>A, NM_001324021.1:c.927C>A, XM_024450195.2:c.963C>A, XM_024450195.1:c.1062C>A, XM_024450194.2:c.963C>A, XM_024450194.1:c.963C>A, XM_024450197.2:c.882C>A, XM_024450197.1:c.882C>A, NM_001285448.1:c.735C>A, XM_047433788.1:c.882C>A, XM_047433789.1:c.1008C>A, XM_047433790.1:c.882C>A, NM_001324019.2:c.1005C>A, NM_001324019.1:c.1005C>A, XM_017023061.3:c.963C>A, XM_017023061.2:c.963C>A, XM_017023061.1:c.963C>A, XM_017023059.2:c.963C>A, XM_017023059.1:c.963C>A, XM_017023060.2:c.1035C>A, XM_017023060.1:c.1035C>A, XM_047433791.1:c.1035C>A, NM_001285447.1:c.963C>A, XM_047442849.1:c.1062C>A, XM_047442865.1:c.1008C>A, XM_047442859.1:c.1062C>A, XM_047442864.1:c.1062C>A, XM_047442851.1:c.1035C>A, XM_047442853.1:c.1008C>A, XM_047442858.1:c.954C>A, XM_047442861.1:c.927C>A, XM_047442857.1:c.963C>A, XM_047442850.1:c.1050C>A, XM_047442855.1:c.882C>A, XM_047442862.1:c.1035C>A, XM_047442863.1:c.1035C>A, XM_047442866.1:c.1008C>A, XM_047442854.1:c.963C>A, XM_047442869.1:c.927C>A, XM_047442852.1:c.963C>A, XM_047442860.1:c.1050C>A, XM_047442868.1:c.927C>A, XR_007068665.1:n.1137C>A, XM_047442867.1:c.1008C>A, XM_047442870.1:c.927C>A, XM_047442856.1:c.963C>A

                        12.

                        rs1474555515 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          16:15006407 (GRCh38)
                          16:15100264 (GRCh37)
                          Canonical SPDI:
                          NC_000016.10:15006406:T:C
                          Gene:
                          PDXDC1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0.00008/1 (ALFA)
                          HGVS:
                          NC_000016.10:g.15006407T>C, NC_000016.9:g.15100264T>C, NT_187607.1:g.845760T>C, NM_015027.4:c.403T>C, NM_015027.3:c.403T>C, NM_015027.2:c.403T>C, NM_001285444.2:c.322T>C, NM_001285444.1:c.322T>C, XM_006720865.3:c.277T>C, XM_006720865.2:c.277T>C, XM_006720865.1:c.376T>C, NM_001285445.2:c.319T>C, NM_001285445.1:c.319T>C, XM_017023063.2:c.358T>C, XM_017023063.1:c.358T>C, NM_001285450.2:c.403T>C, NM_001285450.1:c.403T>C, NM_001285449.2:c.403T>C, NM_001285449.1:c.403T>C, NM_001324020.2:c.400T>C, NM_001324020.1:c.400T>C, XM_017023065.2:c.358T>C, XM_017023065.1:c.358T>C, NM_001324021.2:c.322T>C, NM_001324021.1:c.322T>C, XM_024450195.2:c.358T>C, XM_024450195.1:c.457T>C, XM_024450194.2:c.358T>C, XM_024450194.1:c.358T>C, XM_024450197.2:c.277T>C, XM_024450197.1:c.277T>C, NM_001285448.1:c.130T>C, XM_047433788.1:c.277T>C, XM_047433789.1:c.403T>C, XM_047433790.1:c.277T>C, NM_001324019.2:c.400T>C, NM_001324019.1:c.400T>C, XM_017023061.3:c.358T>C, XM_017023061.2:c.358T>C, XM_017023061.1:c.358T>C, XM_017023059.2:c.358T>C, XM_017023059.1:c.358T>C, XM_017023060.2:c.430T>C, XM_017023060.1:c.430T>C, XM_047433791.1:c.430T>C, NM_001285447.1:c.358T>C, XM_047442849.1:c.457T>C, XM_047442865.1:c.403T>C, XM_047442859.1:c.457T>C, XM_047442864.1:c.457T>C, XM_047442851.1:c.430T>C, XM_047442853.1:c.403T>C, XM_047442858.1:c.349T>C, XM_047442861.1:c.322T>C, XM_047442857.1:c.358T>C, XM_047442850.1:c.445T>C, XM_047442855.1:c.277T>C, XM_047442862.1:c.430T>C, XM_047442863.1:c.430T>C, XM_047442866.1:c.403T>C, XM_047442854.1:c.358T>C, XM_047442869.1:c.322T>C, XM_047442852.1:c.358T>C, XM_047442860.1:c.445T>C, XM_047442868.1:c.322T>C, XR_007068665.1:n.532T>C, XM_047442867.1:c.403T>C, XM_047442870.1:c.322T>C, XM_047442856.1:c.358T>C, NP_055842.2:p.Cys135Arg, NP_001272373.1:p.Cys108Arg, XP_006720928.2:p.Cys93Arg, NP_001272374.1:p.Cys107Arg, XP_016878552.1:p.Cys120Arg, NP_001272379.1:p.Cys135Arg, NP_001272378.1:p.Cys135Arg, NP_001310949.1:p.Cys134Arg, XP_016878554.1:p.Cys120Arg, NP_001310950.1:p.Cys108Arg, XP_024305963.2:p.Cys120Arg, XP_024305962.1:p.Cys120Arg, XP_024305965.1:p.Cys93Arg, NP_001272377.1:p.Cys44Arg, XP_047289744.1:p.Cys93Arg, XP_047289745.1:p.Cys135Arg, XP_047289746.1:p.Cys93Arg, NP_001310948.1:p.Cys134Arg, XP_016878550.1:p.Cys120Arg, XP_016878548.1:p.Cys120Arg, XP_016878549.1:p.Cys144Arg, XP_047289747.1:p.Cys144Arg, NP_001272376.1:p.Cys120Arg

                          13.

                          rs1474024508 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            16:14998395 (GRCh38)
                            16:15092252 (GRCh37)
                            Canonical SPDI:
                            NC_000016.10:14998394:C:T
                            Gene:
                            PDXDC1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            T=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000016.10:g.14998395C>T, NC_000016.9:g.15092252C>T, NT_187607.1:g.837742C>T, NM_015027.4:c.151C>T, NM_015027.3:c.151C>T, NM_015027.2:c.151C>T, NM_001285444.2:c.151C>T, NM_001285444.1:c.151C>T, XM_006720865.3:c.106C>T, XM_006720865.2:c.106C>T, XM_006720865.1:c.205C>T, NM_001285445.2:c.148C>T, NM_001285445.1:c.148C>T, XM_017023063.2:c.106C>T, XM_017023063.1:c.106C>T, NM_001285450.2:c.151C>T, NM_001285450.1:c.151C>T, NM_001285449.2:c.151C>T, NM_001285449.1:c.151C>T, NM_001324020.2:c.148C>T, NM_001324020.1:c.148C>T, XM_017023065.2:c.106C>T, XM_017023065.1:c.106C>T, NM_001324021.2:c.151C>T, NM_001324021.1:c.151C>T, XM_024450195.2:c.106C>T, XM_024450195.1:c.205C>T, XM_024450194.2:c.106C>T, XM_024450194.1:c.106C>T, XM_024450197.2:c.106C>T, XM_024450197.1:c.106C>T, NM_001285448.1:c.106C>T, XM_047433788.1:c.106C>T, XM_047433789.1:c.151C>T, XM_047433790.1:c.106C>T, NM_001324019.2:c.148C>T, NM_001324019.1:c.148C>T, XM_017023061.3:c.106C>T, XM_017023061.2:c.106C>T, XM_017023061.1:c.106C>T, XM_017023059.2:c.106C>T, XM_017023059.1:c.106C>T, XM_017023060.2:c.178C>T, XM_017023060.1:c.178C>T, XM_047433791.1:c.178C>T, NM_001285447.1:c.106C>T, XM_047442849.1:c.205C>T, XM_047442865.1:c.151C>T, XM_047442859.1:c.205C>T, XM_047442864.1:c.205C>T, XM_047442851.1:c.178C>T, XM_047442853.1:c.151C>T, XM_047442858.1:c.178C>T, XM_047442861.1:c.151C>T, XM_047442857.1:c.106C>T, XM_047442850.1:c.193C>T, XM_047442855.1:c.106C>T, XM_047442862.1:c.178C>T, XM_047442863.1:c.178C>T, XM_047442866.1:c.151C>T, XM_047442854.1:c.106C>T, XM_047442869.1:c.151C>T, XM_047442852.1:c.106C>T, XM_047442860.1:c.193C>T, XM_047442868.1:c.151C>T, XR_007068665.1:n.280C>T, XM_047442867.1:c.151C>T, XM_047442870.1:c.151C>T, XM_047442856.1:c.106C>T, NP_055842.2:p.Leu51Phe, NP_001272373.1:p.Leu51Phe, XP_006720928.2:p.Leu36Phe, NP_001272374.1:p.Leu50Phe, XP_016878552.1:p.Leu36Phe, NP_001272379.1:p.Leu51Phe, NP_001272378.1:p.Leu51Phe, NP_001310949.1:p.Leu50Phe, XP_016878554.1:p.Leu36Phe, NP_001310950.1:p.Leu51Phe, XP_024305963.2:p.Leu36Phe, XP_024305962.1:p.Leu36Phe, XP_024305965.1:p.Leu36Phe, NP_001272377.1:p.Leu36Phe, XP_047289744.1:p.Leu36Phe, XP_047289745.1:p.Leu51Phe, XP_047289746.1:p.Leu36Phe, NP_001310948.1:p.Leu50Phe, XP_016878550.1:p.Leu36Phe, XP_016878548.1:p.Leu36Phe, XP_016878549.1:p.Leu60Phe, XP_047289747.1:p.Leu60Phe, NP_001272376.1:p.Leu36Phe

                            14.

                            rs1473120303 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              16:15028930 (GRCh38)
                              16:15122787 (GRCh37)
                              Canonical SPDI:
                              NC_000016.10:15028929:C:G
                              Gene:
                              PDXDC1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0.00003/1 (ALFA)
                              HGVS:
                              NC_000016.10:g.15028930C>G, NC_000016.9:g.15122787C>G, NT_187607.1:g.868275C>G, NM_015027.4:c.1257C>G, NM_015027.3:c.1257C>G, NM_015027.2:c.1257C>G, NM_001285444.2:c.1176C>G, NM_001285444.1:c.1176C>G, XM_006720865.3:c.1131C>G, XM_006720865.2:c.1131C>G, XM_006720865.1:c.1230C>G, NM_001285445.2:c.1173C>G, NM_001285445.1:c.1173C>G, XM_017023063.2:c.1212C>G, XM_017023063.1:c.1212C>G, NM_001285450.2:c.1188C>G, NM_001285450.1:c.1188C>G, NM_001285449.2:c.1257C>G, NM_001285449.1:c.1257C>G, NM_001324020.2:c.1254C>G, NM_001324020.1:c.1254C>G, XM_017023065.2:c.1212C>G, XM_017023065.1:c.1212C>G, NM_001324021.2:c.1176C>G, NM_001324021.1:c.1176C>G, XM_024450195.2:c.1212C>G, XM_024450195.1:c.1311C>G, XM_024450194.2:c.1212C>G, XM_024450194.1:c.1212C>G, XM_024450197.2:c.1131C>G, XM_024450197.1:c.1131C>G, NM_001285448.1:c.984C>G, XM_047433788.1:c.1131C>G, XM_047433789.1:c.1257C>G, XM_047433790.1:c.1131C>G, NM_001324019.2:c.1254C>G, NM_001324019.1:c.1254C>G, XM_017023061.3:c.1212C>G, XM_017023061.2:c.1212C>G, XM_017023061.1:c.1212C>G, XM_017023059.2:c.1212C>G, XM_017023059.1:c.1212C>G, XM_017023060.2:c.1284C>G, XM_017023060.1:c.1284C>G, XM_047433791.1:c.1284C>G, NM_001285447.1:c.1212C>G, XM_047442849.1:c.1311C>G, XM_047442865.1:c.1257C>G, XM_047442859.1:c.1311C>G, XM_047442864.1:c.1311C>G, XM_047442851.1:c.1284C>G, XM_047442853.1:c.1257C>G, XM_047442858.1:c.1203C>G, XM_047442861.1:c.1176C>G, XM_047442857.1:c.1212C>G, XM_047442850.1:c.1299C>G, XM_047442855.1:c.1131C>G, XM_047442862.1:c.1284C>G, XM_047442863.1:c.1284C>G, XM_047442866.1:c.1257C>G, XM_047442854.1:c.1212C>G, XM_047442869.1:c.1176C>G, XM_047442852.1:c.1212C>G, XM_047442860.1:c.1299C>G, XM_047442868.1:c.1176C>G, XR_007068665.1:n.1386C>G, XM_047442867.1:c.1257C>G, XM_047442870.1:c.1176C>G, XM_047442856.1:c.1212C>G

                              15.

                              rs1471518059 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                16:15022747 (GRCh38)
                                16:15116604 (GRCh37)
                                Canonical SPDI:
                                NC_000016.10:15022746:A:G
                                Gene:
                                PDXDC1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                HGVS:
                                NC_000016.10:g.15022747A>G, NC_000016.9:g.15116604A>G, NT_187607.1:g.862091A>G, NM_015027.4:c.1133A>G, NM_015027.3:c.1133A>G, NM_015027.2:c.1133A>G, NM_001285444.2:c.1052A>G, NM_001285444.1:c.1052A>G, XM_006720865.3:c.1007A>G, XM_006720865.2:c.1007A>G, XM_006720865.1:c.1106A>G, NM_001285445.2:c.1049A>G, NM_001285445.1:c.1049A>G, XM_017023063.2:c.1088A>G, XM_017023063.1:c.1088A>G, NM_001285450.2:c.1064A>G, NM_001285450.1:c.1064A>G, NM_001285449.2:c.1133A>G, NM_001285449.1:c.1133A>G, NM_001324020.2:c.1130A>G, NM_001324020.1:c.1130A>G, XM_017023065.2:c.1088A>G, XM_017023065.1:c.1088A>G, NM_001324021.2:c.1052A>G, NM_001324021.1:c.1052A>G, XM_024450195.2:c.1088A>G, XM_024450195.1:c.1187A>G, XM_024450194.2:c.1088A>G, XM_024450194.1:c.1088A>G, XM_024450197.2:c.1007A>G, XM_024450197.1:c.1007A>G, NM_001285448.1:c.860A>G, XM_047433788.1:c.1007A>G, XM_047433789.1:c.1133A>G, XM_047433790.1:c.1007A>G, NM_001324019.2:c.1130A>G, NM_001324019.1:c.1130A>G, XM_017023061.3:c.1088A>G, XM_017023061.2:c.1088A>G, XM_017023061.1:c.1088A>G, XM_017023059.2:c.1088A>G, XM_017023059.1:c.1088A>G, XM_017023060.2:c.1160A>G, XM_017023060.1:c.1160A>G, XM_047433791.1:c.1160A>G, NM_001285447.1:c.1088A>G, XM_047442849.1:c.1187A>G, XM_047442865.1:c.1133A>G, XM_047442859.1:c.1187A>G, XM_047442864.1:c.1187A>G, XM_047442851.1:c.1160A>G, XM_047442853.1:c.1133A>G, XM_047442858.1:c.1079A>G, XM_047442861.1:c.1052A>G, XM_047442857.1:c.1088A>G, XM_047442850.1:c.1175A>G, XM_047442855.1:c.1007A>G, XM_047442862.1:c.1160A>G, XM_047442863.1:c.1160A>G, XM_047442866.1:c.1133A>G, XM_047442854.1:c.1088A>G, XM_047442869.1:c.1052A>G, XM_047442852.1:c.1088A>G, XM_047442860.1:c.1175A>G, XM_047442868.1:c.1052A>G, XR_007068665.1:n.1262A>G, XM_047442867.1:c.1133A>G, XM_047442870.1:c.1052A>G, XM_047442856.1:c.1088A>G, NP_055842.2:p.Lys378Arg, NP_001272373.1:p.Lys351Arg, XP_006720928.2:p.Lys336Arg, NP_001272374.1:p.Lys350Arg, XP_016878552.1:p.Lys363Arg, NP_001272379.1:p.Lys355Arg, NP_001272378.1:p.Lys378Arg, NP_001310949.1:p.Lys377Arg, XP_016878554.1:p.Lys363Arg, NP_001310950.1:p.Lys351Arg, XP_024305963.2:p.Lys363Arg, XP_024305962.1:p.Lys363Arg, XP_024305965.1:p.Lys336Arg, NP_001272377.1:p.Lys287Arg, XP_047289744.1:p.Lys336Arg, XP_047289745.1:p.Lys378Arg, XP_047289746.1:p.Lys336Arg, NP_001310948.1:p.Lys377Arg, XP_016878550.1:p.Lys363Arg, XP_016878548.1:p.Lys363Arg, XP_016878549.1:p.Lys387Arg, XP_047289747.1:p.Lys387Arg, NP_001272376.1:p.Lys363Arg

                                16.

                                rs1469233102 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  16:15001851 (GRCh38)
                                  16:15095708 (GRCh37)
                                  Canonical SPDI:
                                  NC_000016.10:15001850:C:T
                                  Gene:
                                  PDXDC1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,synonymous_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000016.10:g.15001851C>T, NC_000016.9:g.15095708C>T, NT_187607.1:g.841198C>T, NM_015027.4:c.237C>T, NM_015027.3:c.237C>T, NM_015027.2:c.237C>T, XM_017023063.2:c.192C>T, XM_017023063.1:c.192C>T, NM_001285450.2:c.237C>T, NM_001285450.1:c.237C>T, NM_001285449.2:c.237C>T, NM_001285449.1:c.237C>T, NM_001324020.2:c.234C>T, NM_001324020.1:c.234C>T, XM_017023065.2:c.192C>T, XM_017023065.1:c.192C>T, XM_024450195.2:c.192C>T, XM_024450195.1:c.291C>T, XM_024450194.2:c.192C>T, XM_024450194.1:c.192C>T, XM_047433789.1:c.237C>T, NM_001324019.2:c.234C>T, NM_001324019.1:c.234C>T, XM_017023061.3:c.192C>T, XM_017023061.2:c.192C>T, XM_017023061.1:c.192C>T, XM_017023059.2:c.192C>T, XM_017023059.1:c.192C>T, XM_017023060.2:c.264C>T, XM_017023060.1:c.264C>T, XM_047433791.1:c.264C>T, NM_001285447.1:c.192C>T, XM_047442849.1:c.291C>T, XM_047442865.1:c.237C>T, XM_047442859.1:c.291C>T, XM_047442864.1:c.291C>T, XM_047442851.1:c.264C>T, XM_047442853.1:c.237C>T, XM_047442857.1:c.192C>T, XM_047442850.1:c.279C>T, XM_047442862.1:c.264C>T, XM_047442863.1:c.264C>T, XM_047442866.1:c.237C>T, XM_047442854.1:c.192C>T, XM_047442852.1:c.192C>T, XM_047442860.1:c.279C>T, XR_007068665.1:n.366C>T, XM_047442867.1:c.237C>T, XM_047442856.1:c.192C>T

                                  17.

                                  rs1468087287 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    16:15017340 (GRCh38)
                                    16:15111197 (GRCh37)
                                    Canonical SPDI:
                                    NC_000016.10:15017339:G:A
                                    Gene:
                                    PDXDC1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    HGVS:
                                    NC_000016.10:g.15017340G>A, NC_000016.9:g.15111197G>A, NT_187607.1:g.856684G>A, NM_015027.4:c.881G>A, NM_015027.3:c.881G>A, NM_015027.2:c.881G>A, NM_001285444.2:c.800G>A, NM_001285444.1:c.800G>A, XM_006720865.3:c.755G>A, XM_006720865.2:c.755G>A, XM_006720865.1:c.854G>A, NM_001285445.2:c.797G>A, NM_001285445.1:c.797G>A, XM_017023063.2:c.836G>A, XM_017023063.1:c.836G>A, NM_001285450.2:c.812G>A, NM_001285450.1:c.812G>A, NM_001285449.2:c.881G>A, NM_001285449.1:c.881G>A, NM_001324020.2:c.878G>A, NM_001324020.1:c.878G>A, XM_017023065.2:c.836G>A, XM_017023065.1:c.836G>A, NM_001324021.2:c.800G>A, NM_001324021.1:c.800G>A, XM_024450195.2:c.836G>A, XM_024450195.1:c.935G>A, XM_024450194.2:c.836G>A, XM_024450194.1:c.836G>A, XM_024450197.2:c.755G>A, XM_024450197.1:c.755G>A, NM_001285448.1:c.608G>A, XM_047433788.1:c.755G>A, XM_047433789.1:c.881G>A, XM_047433790.1:c.755G>A, NM_001324019.2:c.878G>A, NM_001324019.1:c.878G>A, XM_017023061.3:c.836G>A, XM_017023061.2:c.836G>A, XM_017023061.1:c.836G>A, XM_017023059.2:c.836G>A, XM_017023059.1:c.836G>A, XM_017023060.2:c.908G>A, XM_017023060.1:c.908G>A, XM_047433791.1:c.908G>A, NM_001285447.1:c.836G>A, XM_047442849.1:c.935G>A, XM_047442865.1:c.881G>A, XM_047442859.1:c.935G>A, XM_047442864.1:c.935G>A, XM_047442851.1:c.908G>A, XM_047442853.1:c.881G>A, XM_047442858.1:c.827G>A, XM_047442861.1:c.800G>A, XM_047442857.1:c.836G>A, XM_047442850.1:c.923G>A, XM_047442855.1:c.755G>A, XM_047442862.1:c.908G>A, XM_047442863.1:c.908G>A, XM_047442866.1:c.881G>A, XM_047442854.1:c.836G>A, XM_047442869.1:c.800G>A, XM_047442852.1:c.836G>A, XM_047442860.1:c.923G>A, XM_047442868.1:c.800G>A, XR_007068665.1:n.1010G>A, XM_047442867.1:c.881G>A, XM_047442870.1:c.800G>A, XM_047442856.1:c.836G>A, NP_055842.2:p.Ser294Asn, NP_001272373.1:p.Ser267Asn, XP_006720928.2:p.Ser252Asn, NP_001272374.1:p.Ser266Asn, XP_016878552.1:p.Ser279Asn, NP_001272379.1:p.Ser271Asn, NP_001272378.1:p.Ser294Asn, NP_001310949.1:p.Ser293Asn, XP_016878554.1:p.Ser279Asn, NP_001310950.1:p.Ser267Asn, XP_024305963.2:p.Ser279Asn, XP_024305962.1:p.Ser279Asn, XP_024305965.1:p.Ser252Asn, NP_001272377.1:p.Ser203Asn, XP_047289744.1:p.Ser252Asn, XP_047289745.1:p.Ser294Asn, XP_047289746.1:p.Ser252Asn, NP_001310948.1:p.Ser293Asn, XP_016878550.1:p.Ser279Asn, XP_016878548.1:p.Ser279Asn, XP_016878549.1:p.Ser303Asn, XP_047289747.1:p.Ser303Asn, NP_001272376.1:p.Ser279Asn

                                    18.

                                    rs1466481925 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      G>- [Show Flanks]
                                      Chromosome:
                                      16:15016211 (GRCh38)
                                      16:15110068 (GRCh37)
                                      Canonical SPDI:
                                      NC_000016.10:15016210:GGGG:GGG
                                      Gene:
                                      PDXDC1 (Varview)
                                      Functional Consequence:
                                      splice_donor_variant,coding_sequence_variant
                                      HGVS:

                                      19.

                                      rs1466443321 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>G [Show Flanks]
                                        Chromosome:
                                        16:15022729 (GRCh38)
                                        16:15116586 (GRCh37)
                                        Canonical SPDI:
                                        NC_000016.10:15022728:A:G
                                        Gene:
                                        PDXDC1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000016.10:g.15022729A>G, NC_000016.9:g.15116586A>G, NT_187607.1:g.862073A>G, NM_015027.4:c.1115A>G, NM_015027.3:c.1115A>G, NM_015027.2:c.1115A>G, NM_001285444.2:c.1034A>G, NM_001285444.1:c.1034A>G, XM_006720865.3:c.989A>G, XM_006720865.2:c.989A>G, XM_006720865.1:c.1088A>G, NM_001285445.2:c.1031A>G, NM_001285445.1:c.1031A>G, XM_017023063.2:c.1070A>G, XM_017023063.1:c.1070A>G, NM_001285450.2:c.1046A>G, NM_001285450.1:c.1046A>G, NM_001285449.2:c.1115A>G, NM_001285449.1:c.1115A>G, NM_001324020.2:c.1112A>G, NM_001324020.1:c.1112A>G, XM_017023065.2:c.1070A>G, XM_017023065.1:c.1070A>G, NM_001324021.2:c.1034A>G, NM_001324021.1:c.1034A>G, XM_024450195.2:c.1070A>G, XM_024450195.1:c.1169A>G, XM_024450194.2:c.1070A>G, XM_024450194.1:c.1070A>G, XM_024450197.2:c.989A>G, XM_024450197.1:c.989A>G, NM_001285448.1:c.842A>G, XM_047433788.1:c.989A>G, XM_047433789.1:c.1115A>G, XM_047433790.1:c.989A>G, NM_001324019.2:c.1112A>G, NM_001324019.1:c.1112A>G, XM_017023061.3:c.1070A>G, XM_017023061.2:c.1070A>G, XM_017023061.1:c.1070A>G, XM_017023059.2:c.1070A>G, XM_017023059.1:c.1070A>G, XM_017023060.2:c.1142A>G, XM_017023060.1:c.1142A>G, XM_047433791.1:c.1142A>G, NM_001285447.1:c.1070A>G, XM_047442849.1:c.1169A>G, XM_047442865.1:c.1115A>G, XM_047442859.1:c.1169A>G, XM_047442864.1:c.1169A>G, XM_047442851.1:c.1142A>G, XM_047442853.1:c.1115A>G, XM_047442858.1:c.1061A>G, XM_047442861.1:c.1034A>G, XM_047442857.1:c.1070A>G, XM_047442850.1:c.1157A>G, XM_047442855.1:c.989A>G, XM_047442862.1:c.1142A>G, XM_047442863.1:c.1142A>G, XM_047442866.1:c.1115A>G, XM_047442854.1:c.1070A>G, XM_047442869.1:c.1034A>G, XM_047442852.1:c.1070A>G, XM_047442860.1:c.1157A>G, XM_047442868.1:c.1034A>G, XR_007068665.1:n.1244A>G, XM_047442867.1:c.1115A>G, XM_047442870.1:c.1034A>G, XM_047442856.1:c.1070A>G, NP_055842.2:p.Lys372Arg, NP_001272373.1:p.Lys345Arg, XP_006720928.2:p.Lys330Arg, NP_001272374.1:p.Lys344Arg, XP_016878552.1:p.Lys357Arg, NP_001272379.1:p.Lys349Arg, NP_001272378.1:p.Lys372Arg, NP_001310949.1:p.Lys371Arg, XP_016878554.1:p.Lys357Arg, NP_001310950.1:p.Lys345Arg, XP_024305963.2:p.Lys357Arg, XP_024305962.1:p.Lys357Arg, XP_024305965.1:p.Lys330Arg, NP_001272377.1:p.Lys281Arg, XP_047289744.1:p.Lys330Arg, XP_047289745.1:p.Lys372Arg, XP_047289746.1:p.Lys330Arg, NP_001310948.1:p.Lys371Arg, XP_016878550.1:p.Lys357Arg, XP_016878548.1:p.Lys357Arg, XP_016878549.1:p.Lys381Arg, XP_047289747.1:p.Lys381Arg, NP_001272376.1:p.Lys357Arg

                                        20.

                                        rs1464229332 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A,T [Show Flanks]
                                          Chromosome:
                                          16:15017390 (GRCh38)
                                          16:15111247 (GRCh37)
                                          Canonical SPDI:
                                          NC_000016.10:15017389:G:A,NC_000016.10:15017389:G:T
                                          Gene:
                                          PDXDC1 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000016.10:g.15017390G>A, NC_000016.10:g.15017390G>T, NC_000016.9:g.15111247G>A, NC_000016.9:g.15111247G>T, NT_187607.1:g.856734G>A, NT_187607.1:g.856734G>T, NM_015027.4:c.931G>A, NM_015027.4:c.931G>T, NM_015027.3:c.931G>A, NM_015027.3:c.931G>T, NM_015027.2:c.931G>A, NM_015027.2:c.931G>T, NM_001285444.2:c.850G>A, NM_001285444.2:c.850G>T, NM_001285444.1:c.850G>A, NM_001285444.1:c.850G>T, XM_006720865.3:c.805G>A, XM_006720865.3:c.805G>T, XM_006720865.2:c.805G>A, XM_006720865.2:c.805G>T, XM_006720865.1:c.904G>A, XM_006720865.1:c.904G>T, NM_001285445.2:c.847G>A, NM_001285445.2:c.847G>T, NM_001285445.1:c.847G>A, NM_001285445.1:c.847G>T, XM_017023063.2:c.886G>A, XM_017023063.2:c.886G>T, XM_017023063.1:c.886G>A, XM_017023063.1:c.886G>T, NM_001285450.2:c.862G>A, NM_001285450.2:c.862G>T, NM_001285450.1:c.862G>A, NM_001285450.1:c.862G>T, NM_001285449.2:c.931G>A, NM_001285449.2:c.931G>T, NM_001285449.1:c.931G>A, NM_001285449.1:c.931G>T, NM_001324020.2:c.928G>A, NM_001324020.2:c.928G>T, NM_001324020.1:c.928G>A, NM_001324020.1:c.928G>T, XM_017023065.2:c.886G>A, XM_017023065.2:c.886G>T, XM_017023065.1:c.886G>A, XM_017023065.1:c.886G>T, NM_001324021.2:c.850G>A, NM_001324021.2:c.850G>T, NM_001324021.1:c.850G>A, NM_001324021.1:c.850G>T, XM_024450195.2:c.886G>A, XM_024450195.2:c.886G>T, XM_024450195.1:c.985G>A, XM_024450195.1:c.985G>T, XM_024450194.2:c.886G>A, XM_024450194.2:c.886G>T, XM_024450194.1:c.886G>A, XM_024450194.1:c.886G>T, XM_024450197.2:c.805G>A, XM_024450197.2:c.805G>T, XM_024450197.1:c.805G>A, XM_024450197.1:c.805G>T, NM_001285448.1:c.658G>A, NM_001285448.1:c.658G>T, XM_047433788.1:c.805G>A, XM_047433788.1:c.805G>T, XM_047433789.1:c.931G>A, XM_047433789.1:c.931G>T, XM_047433790.1:c.805G>A, XM_047433790.1:c.805G>T, NM_001324019.2:c.928G>A, NM_001324019.2:c.928G>T, NM_001324019.1:c.928G>A, NM_001324019.1:c.928G>T, XM_017023061.3:c.886G>A, XM_017023061.3:c.886G>T, XM_017023061.2:c.886G>A, XM_017023061.2:c.886G>T, XM_017023061.1:c.886G>A, XM_017023061.1:c.886G>T, XM_017023059.2:c.886G>A, XM_017023059.2:c.886G>T, XM_017023059.1:c.886G>A, XM_017023059.1:c.886G>T, XM_017023060.2:c.958G>A, XM_017023060.2:c.958G>T, XM_017023060.1:c.958G>A, XM_017023060.1:c.958G>T, XM_047433791.1:c.958G>A, XM_047433791.1:c.958G>T, NM_001285447.1:c.886G>A, NM_001285447.1:c.886G>T, XM_047442849.1:c.985G>A, XM_047442849.1:c.985G>T, XM_047442865.1:c.931G>A, XM_047442865.1:c.931G>T, XM_047442859.1:c.985G>A, XM_047442859.1:c.985G>T, XM_047442864.1:c.985G>A, XM_047442864.1:c.985G>T, XM_047442851.1:c.958G>A, XM_047442851.1:c.958G>T, XM_047442853.1:c.931G>A, XM_047442853.1:c.931G>T, XM_047442858.1:c.877G>A, XM_047442858.1:c.877G>T, XM_047442861.1:c.850G>A, XM_047442861.1:c.850G>T, XM_047442857.1:c.886G>A, XM_047442857.1:c.886G>T, XM_047442850.1:c.973G>A, XM_047442850.1:c.973G>T, XM_047442855.1:c.805G>A, XM_047442855.1:c.805G>T, XM_047442862.1:c.958G>A, XM_047442862.1:c.958G>T, XM_047442863.1:c.958G>A, XM_047442863.1:c.958G>T, XM_047442866.1:c.931G>A, XM_047442866.1:c.931G>T, XM_047442854.1:c.886G>A, XM_047442854.1:c.886G>T, XM_047442869.1:c.850G>A, XM_047442869.1:c.850G>T, XM_047442852.1:c.886G>A, XM_047442852.1:c.886G>T, XM_047442860.1:c.973G>A, XM_047442860.1:c.973G>T, XM_047442868.1:c.850G>A, XM_047442868.1:c.850G>T, XR_007068665.1:n.1060G>A, XR_007068665.1:n.1060G>T, XM_047442867.1:c.931G>A, XM_047442867.1:c.931G>T, XM_047442870.1:c.850G>A, XM_047442870.1:c.850G>T, XM_047442856.1:c.886G>A, XM_047442856.1:c.886G>T, NP_055842.2:p.Val311Met, NP_055842.2:p.Val311Leu, NP_001272373.1:p.Val284Met, NP_001272373.1:p.Val284Leu, XP_006720928.2:p.Val269Met, XP_006720928.2:p.Val269Leu, NP_001272374.1:p.Val283Met, NP_001272374.1:p.Val283Leu, XP_016878552.1:p.Val296Met, XP_016878552.1:p.Val296Leu, NP_001272379.1:p.Val288Met, NP_001272379.1:p.Val288Leu, NP_001272378.1:p.Val311Met, NP_001272378.1:p.Val311Leu, NP_001310949.1:p.Val310Met, NP_001310949.1:p.Val310Leu, XP_016878554.1:p.Val296Met, XP_016878554.1:p.Val296Leu, NP_001310950.1:p.Val284Met, NP_001310950.1:p.Val284Leu, XP_024305963.2:p.Val296Met, XP_024305963.2:p.Val296Leu, XP_024305962.1:p.Val296Met, XP_024305962.1:p.Val296Leu, XP_024305965.1:p.Val269Met, XP_024305965.1:p.Val269Leu, NP_001272377.1:p.Val220Met, NP_001272377.1:p.Val220Leu, XP_047289744.1:p.Val269Met, XP_047289744.1:p.Val269Leu, XP_047289745.1:p.Val311Met, XP_047289745.1:p.Val311Leu, XP_047289746.1:p.Val269Met, XP_047289746.1:p.Val269Leu, NP_001310948.1:p.Val310Met, NP_001310948.1:p.Val310Leu, XP_016878550.1:p.Val296Met, XP_016878550.1:p.Val296Leu, XP_016878548.1:p.Val296Met, XP_016878548.1:p.Val296Leu, XP_016878549.1:p.Val320Met, XP_016878549.1:p.Val320Leu, XP_047289747.1:p.Val320Met, XP_047289747.1:p.Val320Leu, NP_001272376.1:p.Val296Met, NP_001272376.1:p.Val296Leu

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