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Items: 1 to 20 of 341

1.

rs1488121732 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    6:143941608 (GRCh38)
    6:144262745 (GRCh37)
    Canonical SPDI:
    NC_000006.12:143941607:A:C
    Gene:
    PLAGL1 (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_000006.12:g.143941608A>C, NC_000006.11:g.144262745A>C, NG_009384.2:g.127991T>G, NM_006718.5:c.1208T>G, NM_006718.4:c.1208T>G, NM_006718.3:c.1208T>G, NM_001080951.3:c.1208T>G, NM_001080951.2:c.1208T>G, NM_001080951.1:c.1208T>G, NM_001080952.3:c.1208T>G, NM_001080952.2:c.1208T>G, NM_001080952.1:c.1208T>G, NM_001080953.3:c.1208T>G, NM_001080953.2:c.1208T>G, NM_001080953.1:c.1208T>G, NM_001080954.3:c.1208T>G, NM_001080954.2:c.1208T>G, NM_001080954.1:c.1208T>G, NM_001080956.3:c.1052T>G, NM_001080956.2:c.1052T>G, NM_001080956.1:c.1052T>G, NM_001080955.3:c.1052T>G, NM_001080955.2:c.1052T>G, NM_001080955.1:c.1052T>G, NM_001317157.2:c.1208T>G, NM_001317157.1:c.1208T>G, NM_001289045.2:c.1208T>G, NM_001289045.1:c.1208T>G, NM_001289046.2:c.1208T>G, NM_001289046.1:c.1208T>G, NM_001317162.2:c.1208T>G, NM_001317162.1:c.1208T>G, NM_001317159.2:c.1208T>G, NM_001317159.1:c.1208T>G, NM_001317161.2:c.1208T>G, NM_001317161.1:c.1208T>G, NM_001289048.2:c.1208T>G, NM_001289048.1:c.1208T>G, NM_001289043.2:c.1208T>G, NM_001289043.1:c.1208T>G, NM_001289049.2:c.1208T>G, NM_001289049.1:c.1208T>G, NM_001289044.2:c.1208T>G, NM_001289044.1:c.1208T>G, NM_001289047.2:c.1208T>G, NM_001289047.1:c.1208T>G, NM_001289042.2:c.1208T>G, NM_001289042.1:c.1208T>G, NM_001289041.2:c.1052T>G, NM_001289041.1:c.1052T>G, NM_001317160.2:c.1052T>G, NM_001317160.1:c.1052T>G, NM_001289039.2:c.1052T>G, NM_001289039.1:c.1052T>G, NM_001289040.2:c.1052T>G, NM_001289040.1:c.1052T>G, NM_001289037.2:c.1052T>G, NM_001289037.1:c.1052T>G, NM_001289038.2:c.1052T>G, NM_001289038.1:c.1052T>G, NM_001317156.1:c.1208T>G, NM_001317158.1:c.1052T>G, NM_002656.3:c.1052T>G, NP_006709.2:p.Leu403Arg, NP_001074420.1:p.Leu403Arg, NP_001074421.1:p.Leu403Arg, NP_001074422.1:p.Leu403Arg, NP_001074423.1:p.Leu403Arg, NP_001074425.1:p.Leu351Arg, NP_001074424.1:p.Leu351Arg, NP_001304086.1:p.Leu403Arg, NP_001275974.1:p.Leu403Arg, NP_001275975.1:p.Leu403Arg, NP_001304091.1:p.Leu403Arg, NP_001304088.1:p.Leu403Arg, NP_001304090.1:p.Leu403Arg, NP_001275977.1:p.Leu403Arg, NP_001275972.1:p.Leu403Arg, NP_001275978.1:p.Leu403Arg, NP_001275973.1:p.Leu403Arg, NP_001275976.1:p.Leu403Arg, NP_001275971.1:p.Leu403Arg, NP_001275970.1:p.Leu351Arg, NP_001304089.1:p.Leu351Arg, NP_001275968.1:p.Leu351Arg, NP_001275969.1:p.Leu351Arg, NP_001275966.1:p.Leu351Arg, NP_001275967.1:p.Leu351Arg, NP_001304085.1:p.Leu403Arg, NP_001304087.1:p.Leu351Arg

    2.

    rs1484417716 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      6:143942540 (GRCh38)
      6:144263677 (GRCh37)
      Canonical SPDI:
      NC_000006.12:143942539:C:T
      Gene:
      PLAGL1 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000006.12:g.143942540C>T, NC_000006.11:g.144263677C>T, NG_009384.2:g.127059G>A, NM_006718.5:c.276G>A, NM_006718.4:c.276G>A, NM_006718.3:c.276G>A, NM_001080951.3:c.276G>A, NM_001080951.2:c.276G>A, NM_001080951.1:c.276G>A, NM_001080952.3:c.276G>A, NM_001080952.2:c.276G>A, NM_001080952.1:c.276G>A, NM_001080953.3:c.276G>A, NM_001080953.2:c.276G>A, NM_001080953.1:c.276G>A, NM_001080954.3:c.276G>A, NM_001080954.2:c.276G>A, NM_001080954.1:c.276G>A, NM_001080956.3:c.120G>A, NM_001080956.2:c.120G>A, NM_001080956.1:c.120G>A, NM_001080955.3:c.120G>A, NM_001080955.2:c.120G>A, NM_001080955.1:c.120G>A, NM_001317157.2:c.276G>A, NM_001317157.1:c.276G>A, NM_001289045.2:c.276G>A, NM_001289045.1:c.276G>A, NM_001289046.2:c.276G>A, NM_001289046.1:c.276G>A, NM_001317162.2:c.276G>A, NM_001317162.1:c.276G>A, NM_001317159.2:c.276G>A, NM_001317159.1:c.276G>A, NM_001317161.2:c.276G>A, NM_001317161.1:c.276G>A, NM_001289048.2:c.276G>A, NM_001289048.1:c.276G>A, NM_001289043.2:c.276G>A, NM_001289043.1:c.276G>A, NM_001289049.2:c.276G>A, NM_001289049.1:c.276G>A, NM_001289044.2:c.276G>A, NM_001289044.1:c.276G>A, NM_001289047.2:c.276G>A, NM_001289047.1:c.276G>A, NM_001289042.2:c.276G>A, NM_001289042.1:c.276G>A, NM_001289041.2:c.120G>A, NM_001289041.1:c.120G>A, NM_001317160.2:c.120G>A, NM_001317160.1:c.120G>A, NM_001289039.2:c.120G>A, NM_001289039.1:c.120G>A, NM_001289040.2:c.120G>A, NM_001289040.1:c.120G>A, NM_001289037.2:c.120G>A, NM_001289037.1:c.120G>A, NM_001289038.2:c.120G>A, NM_001289038.1:c.120G>A, NM_001317156.1:c.276G>A, NM_001317158.1:c.120G>A, NM_002656.3:c.120G>A

      3.

      rs1483976024 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        6:143942205 (GRCh38)
        6:144263342 (GRCh37)
        Canonical SPDI:
        NC_000006.12:143942204:T:C
        Gene:
        PLAGL1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000006.12:g.143942205T>C, NC_000006.11:g.144263342T>C, NG_009384.2:g.127394A>G, NM_006718.5:c.611A>G, NM_006718.4:c.611A>G, NM_006718.3:c.611A>G, NM_001080951.3:c.611A>G, NM_001080951.2:c.611A>G, NM_001080951.1:c.611A>G, NM_001080952.3:c.611A>G, NM_001080952.2:c.611A>G, NM_001080952.1:c.611A>G, NM_001080953.3:c.611A>G, NM_001080953.2:c.611A>G, NM_001080953.1:c.611A>G, NM_001080954.3:c.611A>G, NM_001080954.2:c.611A>G, NM_001080954.1:c.611A>G, NM_001080956.3:c.455A>G, NM_001080956.2:c.455A>G, NM_001080956.1:c.455A>G, NM_001080955.3:c.455A>G, NM_001080955.2:c.455A>G, NM_001080955.1:c.455A>G, NM_001317157.2:c.611A>G, NM_001317157.1:c.611A>G, NM_001289045.2:c.611A>G, NM_001289045.1:c.611A>G, NM_001289046.2:c.611A>G, NM_001289046.1:c.611A>G, NM_001317162.2:c.611A>G, NM_001317162.1:c.611A>G, NM_001317159.2:c.611A>G, NM_001317159.1:c.611A>G, NM_001317161.2:c.611A>G, NM_001317161.1:c.611A>G, NM_001289048.2:c.611A>G, NM_001289048.1:c.611A>G, NM_001289043.2:c.611A>G, NM_001289043.1:c.611A>G, NM_001289049.2:c.611A>G, NM_001289049.1:c.611A>G, NM_001289044.2:c.611A>G, NM_001289044.1:c.611A>G, NM_001289047.2:c.611A>G, NM_001289047.1:c.611A>G, NM_001289042.2:c.611A>G, NM_001289042.1:c.611A>G, NM_001289041.2:c.455A>G, NM_001289041.1:c.455A>G, NM_001317160.2:c.455A>G, NM_001317160.1:c.455A>G, NM_001289039.2:c.455A>G, NM_001289039.1:c.455A>G, NM_001289040.2:c.455A>G, NM_001289040.1:c.455A>G, NM_001289037.2:c.455A>G, NM_001289037.1:c.455A>G, NM_001289038.2:c.455A>G, NM_001289038.1:c.455A>G, NM_001317156.1:c.611A>G, NM_001317158.1:c.455A>G, NM_002656.3:c.455A>G, NP_006709.2:p.Lys204Arg, NP_001074420.1:p.Lys204Arg, NP_001074421.1:p.Lys204Arg, NP_001074422.1:p.Lys204Arg, NP_001074423.1:p.Lys204Arg, NP_001074425.1:p.Lys152Arg, NP_001074424.1:p.Lys152Arg, NP_001304086.1:p.Lys204Arg, NP_001275974.1:p.Lys204Arg, NP_001275975.1:p.Lys204Arg, NP_001304091.1:p.Lys204Arg, NP_001304088.1:p.Lys204Arg, NP_001304090.1:p.Lys204Arg, NP_001275977.1:p.Lys204Arg, NP_001275972.1:p.Lys204Arg, NP_001275978.1:p.Lys204Arg, NP_001275973.1:p.Lys204Arg, NP_001275976.1:p.Lys204Arg, NP_001275971.1:p.Lys204Arg, NP_001275970.1:p.Lys152Arg, NP_001304089.1:p.Lys152Arg, NP_001275968.1:p.Lys152Arg, NP_001275969.1:p.Lys152Arg, NP_001275966.1:p.Lys152Arg, NP_001275967.1:p.Lys152Arg, NP_001304085.1:p.Lys204Arg, NP_001304087.1:p.Lys152Arg

        4.

        rs1480454438 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          6:143942214 (GRCh38)
          6:144263351 (GRCh37)
          Canonical SPDI:
          NC_000006.12:143942213:C:G,NC_000006.12:143942213:C:T
          Gene:
          PLAGL1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000006.12:g.143942214C>G, NC_000006.12:g.143942214C>T, NC_000006.11:g.144263351C>G, NC_000006.11:g.144263351C>T, NG_009384.2:g.127385G>C, NG_009384.2:g.127385G>A, NM_006718.5:c.602G>C, NM_006718.5:c.602G>A, NM_006718.4:c.602G>C, NM_006718.4:c.602G>A, NM_006718.3:c.602G>C, NM_006718.3:c.602G>A, NM_001080951.3:c.602G>C, NM_001080951.3:c.602G>A, NM_001080951.2:c.602G>C, NM_001080951.2:c.602G>A, NM_001080951.1:c.602G>C, NM_001080951.1:c.602G>A, NM_001080952.3:c.602G>C, NM_001080952.3:c.602G>A, NM_001080952.2:c.602G>C, NM_001080952.2:c.602G>A, NM_001080952.1:c.602G>C, NM_001080952.1:c.602G>A, NM_001080953.3:c.602G>C, NM_001080953.3:c.602G>A, NM_001080953.2:c.602G>C, NM_001080953.2:c.602G>A, NM_001080953.1:c.602G>C, NM_001080953.1:c.602G>A, NM_001080954.3:c.602G>C, NM_001080954.3:c.602G>A, NM_001080954.2:c.602G>C, NM_001080954.2:c.602G>A, NM_001080954.1:c.602G>C, NM_001080954.1:c.602G>A, NM_001080956.3:c.446G>C, NM_001080956.3:c.446G>A, NM_001080956.2:c.446G>C, NM_001080956.2:c.446G>A, NM_001080956.1:c.446G>C, NM_001080956.1:c.446G>A, NM_001080955.3:c.446G>C, NM_001080955.3:c.446G>A, NM_001080955.2:c.446G>C, NM_001080955.2:c.446G>A, NM_001080955.1:c.446G>C, NM_001080955.1:c.446G>A, NM_001317157.2:c.602G>C, NM_001317157.2:c.602G>A, NM_001317157.1:c.602G>C, NM_001317157.1:c.602G>A, NM_001289045.2:c.602G>C, NM_001289045.2:c.602G>A, NM_001289045.1:c.602G>C, NM_001289045.1:c.602G>A, NM_001289046.2:c.602G>C, NM_001289046.2:c.602G>A, NM_001289046.1:c.602G>C, NM_001289046.1:c.602G>A, NM_001317162.2:c.602G>C, NM_001317162.2:c.602G>A, NM_001317162.1:c.602G>C, NM_001317162.1:c.602G>A, NM_001317159.2:c.602G>C, NM_001317159.2:c.602G>A, NM_001317159.1:c.602G>C, NM_001317159.1:c.602G>A, NM_001317161.2:c.602G>C, NM_001317161.2:c.602G>A, NM_001317161.1:c.602G>C, NM_001317161.1:c.602G>A, NM_001289048.2:c.602G>C, NM_001289048.2:c.602G>A, NM_001289048.1:c.602G>C, NM_001289048.1:c.602G>A, NM_001289043.2:c.602G>C, NM_001289043.2:c.602G>A, NM_001289043.1:c.602G>C, NM_001289043.1:c.602G>A, NM_001289049.2:c.602G>C, NM_001289049.2:c.602G>A, NM_001289049.1:c.602G>C, NM_001289049.1:c.602G>A, NM_001289044.2:c.602G>C, NM_001289044.2:c.602G>A, NM_001289044.1:c.602G>C, NM_001289044.1:c.602G>A, NM_001289047.2:c.602G>C, NM_001289047.2:c.602G>A, NM_001289047.1:c.602G>C, NM_001289047.1:c.602G>A, NM_001289042.2:c.602G>C, NM_001289042.2:c.602G>A, NM_001289042.1:c.602G>C, NM_001289042.1:c.602G>A, NM_001289041.2:c.446G>C, NM_001289041.2:c.446G>A, NM_001289041.1:c.446G>C, NM_001289041.1:c.446G>A, NM_001317160.2:c.446G>C, NM_001317160.2:c.446G>A, NM_001317160.1:c.446G>C, NM_001317160.1:c.446G>A, NM_001289039.2:c.446G>C, NM_001289039.2:c.446G>A, NM_001289039.1:c.446G>C, NM_001289039.1:c.446G>A, NM_001289040.2:c.446G>C, NM_001289040.2:c.446G>A, NM_001289040.1:c.446G>C, NM_001289040.1:c.446G>A, NM_001289037.2:c.446G>C, NM_001289037.2:c.446G>A, NM_001289037.1:c.446G>C, NM_001289037.1:c.446G>A, NM_001289038.2:c.446G>C, NM_001289038.2:c.446G>A, NM_001289038.1:c.446G>C, NM_001289038.1:c.446G>A, NM_001317156.1:c.602G>C, NM_001317156.1:c.602G>A, NM_001317158.1:c.446G>C, NM_001317158.1:c.446G>A, NM_002656.3:c.446G>C, NM_002656.3:c.446G>A, NP_006709.2:p.Arg201Pro, NP_006709.2:p.Arg201Gln, NP_001074420.1:p.Arg201Pro, NP_001074420.1:p.Arg201Gln, NP_001074421.1:p.Arg201Pro, NP_001074421.1:p.Arg201Gln, NP_001074422.1:p.Arg201Pro, NP_001074422.1:p.Arg201Gln, NP_001074423.1:p.Arg201Pro, NP_001074423.1:p.Arg201Gln, NP_001074425.1:p.Arg149Pro, NP_001074425.1:p.Arg149Gln, NP_001074424.1:p.Arg149Pro, NP_001074424.1:p.Arg149Gln, NP_001304086.1:p.Arg201Pro, NP_001304086.1:p.Arg201Gln, NP_001275974.1:p.Arg201Pro, NP_001275974.1:p.Arg201Gln, NP_001275975.1:p.Arg201Pro, NP_001275975.1:p.Arg201Gln, NP_001304091.1:p.Arg201Pro, NP_001304091.1:p.Arg201Gln, NP_001304088.1:p.Arg201Pro, NP_001304088.1:p.Arg201Gln, NP_001304090.1:p.Arg201Pro, NP_001304090.1:p.Arg201Gln, NP_001275977.1:p.Arg201Pro, NP_001275977.1:p.Arg201Gln, NP_001275972.1:p.Arg201Pro, NP_001275972.1:p.Arg201Gln, NP_001275978.1:p.Arg201Pro, NP_001275978.1:p.Arg201Gln, NP_001275973.1:p.Arg201Pro, NP_001275973.1:p.Arg201Gln, NP_001275976.1:p.Arg201Pro, NP_001275976.1:p.Arg201Gln, NP_001275971.1:p.Arg201Pro, NP_001275971.1:p.Arg201Gln, NP_001275970.1:p.Arg149Pro, NP_001275970.1:p.Arg149Gln, NP_001304089.1:p.Arg149Pro, NP_001304089.1:p.Arg149Gln, NP_001275968.1:p.Arg149Pro, NP_001275968.1:p.Arg149Gln, NP_001275969.1:p.Arg149Pro, NP_001275969.1:p.Arg149Gln, NP_001275966.1:p.Arg149Pro, NP_001275966.1:p.Arg149Gln, NP_001275967.1:p.Arg149Pro, NP_001275967.1:p.Arg149Gln, NP_001304085.1:p.Arg201Pro, NP_001304085.1:p.Arg201Gln, NP_001304087.1:p.Arg149Pro, NP_001304087.1:p.Arg149Gln

          5.

          rs1477525550 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:143942233 (GRCh38)
            6:144263370 (GRCh37)
            Canonical SPDI:
            NC_000006.12:143942232:G:A
            Gene:
            PLAGL1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.143942233G>A, NC_000006.11:g.144263370G>A, NG_009384.2:g.127366C>T, NM_006718.5:c.583C>T, NM_006718.4:c.583C>T, NM_006718.3:c.583C>T, NM_001080951.3:c.583C>T, NM_001080951.2:c.583C>T, NM_001080951.1:c.583C>T, NM_001080952.3:c.583C>T, NM_001080952.2:c.583C>T, NM_001080952.1:c.583C>T, NM_001080953.3:c.583C>T, NM_001080953.2:c.583C>T, NM_001080953.1:c.583C>T, NM_001080954.3:c.583C>T, NM_001080954.2:c.583C>T, NM_001080954.1:c.583C>T, NM_001080956.3:c.427C>T, NM_001080956.2:c.427C>T, NM_001080956.1:c.427C>T, NM_001080955.3:c.427C>T, NM_001080955.2:c.427C>T, NM_001080955.1:c.427C>T, NM_001317157.2:c.583C>T, NM_001317157.1:c.583C>T, NM_001289045.2:c.583C>T, NM_001289045.1:c.583C>T, NM_001289046.2:c.583C>T, NM_001289046.1:c.583C>T, NM_001317162.2:c.583C>T, NM_001317162.1:c.583C>T, NM_001317159.2:c.583C>T, NM_001317159.1:c.583C>T, NM_001317161.2:c.583C>T, NM_001317161.1:c.583C>T, NM_001289048.2:c.583C>T, NM_001289048.1:c.583C>T, NM_001289043.2:c.583C>T, NM_001289043.1:c.583C>T, NM_001289049.2:c.583C>T, NM_001289049.1:c.583C>T, NM_001289044.2:c.583C>T, NM_001289044.1:c.583C>T, NM_001289047.2:c.583C>T, NM_001289047.1:c.583C>T, NM_001289042.2:c.583C>T, NM_001289042.1:c.583C>T, NM_001289041.2:c.427C>T, NM_001289041.1:c.427C>T, NM_001317160.2:c.427C>T, NM_001317160.1:c.427C>T, NM_001289039.2:c.427C>T, NM_001289039.1:c.427C>T, NM_001289040.2:c.427C>T, NM_001289040.1:c.427C>T, NM_001289037.2:c.427C>T, NM_001289037.1:c.427C>T, NM_001289038.2:c.427C>T, NM_001289038.1:c.427C>T, NM_001317156.1:c.583C>T, NM_001317158.1:c.427C>T, NM_002656.3:c.427C>T, NP_006709.2:p.Arg195Cys, NP_001074420.1:p.Arg195Cys, NP_001074421.1:p.Arg195Cys, NP_001074422.1:p.Arg195Cys, NP_001074423.1:p.Arg195Cys, NP_001074425.1:p.Arg143Cys, NP_001074424.1:p.Arg143Cys, NP_001304086.1:p.Arg195Cys, NP_001275974.1:p.Arg195Cys, NP_001275975.1:p.Arg195Cys, NP_001304091.1:p.Arg195Cys, NP_001304088.1:p.Arg195Cys, NP_001304090.1:p.Arg195Cys, NP_001275977.1:p.Arg195Cys, NP_001275972.1:p.Arg195Cys, NP_001275978.1:p.Arg195Cys, NP_001275973.1:p.Arg195Cys, NP_001275976.1:p.Arg195Cys, NP_001275971.1:p.Arg195Cys, NP_001275970.1:p.Arg143Cys, NP_001304089.1:p.Arg143Cys, NP_001275968.1:p.Arg143Cys, NP_001275969.1:p.Arg143Cys, NP_001275966.1:p.Arg143Cys, NP_001275967.1:p.Arg143Cys, NP_001304085.1:p.Arg195Cys, NP_001304087.1:p.Arg143Cys

            6.

            rs1472559549 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              6:143941834 (GRCh38)
              6:144262971 (GRCh37)
              Canonical SPDI:
              NC_000006.12:143941833:T:C
              Gene:
              PLAGL1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.143941834T>C, NC_000006.11:g.144262971T>C, NG_009384.2:g.127765A>G, NM_006718.5:c.982A>G, NM_006718.4:c.982A>G, NM_006718.3:c.982A>G, NM_001080951.3:c.982A>G, NM_001080951.2:c.982A>G, NM_001080951.1:c.982A>G, NM_001080952.3:c.982A>G, NM_001080952.2:c.982A>G, NM_001080952.1:c.982A>G, NM_001080953.3:c.982A>G, NM_001080953.2:c.982A>G, NM_001080953.1:c.982A>G, NM_001080954.3:c.982A>G, NM_001080954.2:c.982A>G, NM_001080954.1:c.982A>G, NM_001080956.3:c.826A>G, NM_001080956.2:c.826A>G, NM_001080956.1:c.826A>G, NM_001080955.3:c.826A>G, NM_001080955.2:c.826A>G, NM_001080955.1:c.826A>G, NM_001317157.2:c.982A>G, NM_001317157.1:c.982A>G, NM_001289045.2:c.982A>G, NM_001289045.1:c.982A>G, NM_001289046.2:c.982A>G, NM_001289046.1:c.982A>G, NM_001317162.2:c.982A>G, NM_001317162.1:c.982A>G, NM_001317159.2:c.982A>G, NM_001317159.1:c.982A>G, NM_001317161.2:c.982A>G, NM_001317161.1:c.982A>G, NM_001289048.2:c.982A>G, NM_001289048.1:c.982A>G, NM_001289043.2:c.982A>G, NM_001289043.1:c.982A>G, NM_001289049.2:c.982A>G, NM_001289049.1:c.982A>G, NM_001289044.2:c.982A>G, NM_001289044.1:c.982A>G, NM_001289047.2:c.982A>G, NM_001289047.1:c.982A>G, NM_001289042.2:c.982A>G, NM_001289042.1:c.982A>G, NM_001289041.2:c.826A>G, NM_001289041.1:c.826A>G, NM_001317160.2:c.826A>G, NM_001317160.1:c.826A>G, NM_001289039.2:c.826A>G, NM_001289039.1:c.826A>G, NM_001289040.2:c.826A>G, NM_001289040.1:c.826A>G, NM_001289037.2:c.826A>G, NM_001289037.1:c.826A>G, NM_001289038.2:c.826A>G, NM_001289038.1:c.826A>G, NM_001317156.1:c.982A>G, NM_001317158.1:c.826A>G, NM_002656.3:c.826A>G, NP_006709.2:p.Ile328Val, NP_001074420.1:p.Ile328Val, NP_001074421.1:p.Ile328Val, NP_001074422.1:p.Ile328Val, NP_001074423.1:p.Ile328Val, NP_001074425.1:p.Ile276Val, NP_001074424.1:p.Ile276Val, NP_001304086.1:p.Ile328Val, NP_001275974.1:p.Ile328Val, NP_001275975.1:p.Ile328Val, NP_001304091.1:p.Ile328Val, NP_001304088.1:p.Ile328Val, NP_001304090.1:p.Ile328Val, NP_001275977.1:p.Ile328Val, NP_001275972.1:p.Ile328Val, NP_001275978.1:p.Ile328Val, NP_001275973.1:p.Ile328Val, NP_001275976.1:p.Ile328Val, NP_001275971.1:p.Ile328Val, NP_001275970.1:p.Ile276Val, NP_001304089.1:p.Ile276Val, NP_001275968.1:p.Ile276Val, NP_001275969.1:p.Ile276Val, NP_001275966.1:p.Ile276Val, NP_001275967.1:p.Ile276Val, NP_001304085.1:p.Ile328Val, NP_001304087.1:p.Ile276Val

              7.

              rs1470054777 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                6:143942085 (GRCh38)
                6:144263222 (GRCh37)
                Canonical SPDI:
                NC_000006.12:143942084:A:G
                Gene:
                PLAGL1 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000008/2 (TOPMED)
                G=0.000012/3 (GnomAD_exomes)
                HGVS:
                NC_000006.12:g.143942085A>G, NC_000006.11:g.144263222A>G, NG_009384.2:g.127514T>C, NM_006718.5:c.731T>C, NM_006718.4:c.731T>C, NM_006718.3:c.731T>C, NM_001080951.3:c.731T>C, NM_001080951.2:c.731T>C, NM_001080951.1:c.731T>C, NM_001080952.3:c.731T>C, NM_001080952.2:c.731T>C, NM_001080952.1:c.731T>C, NM_001080953.3:c.731T>C, NM_001080953.2:c.731T>C, NM_001080953.1:c.731T>C, NM_001080954.3:c.731T>C, NM_001080954.2:c.731T>C, NM_001080954.1:c.731T>C, NM_001080956.3:c.575T>C, NM_001080956.2:c.575T>C, NM_001080956.1:c.575T>C, NM_001080955.3:c.575T>C, NM_001080955.2:c.575T>C, NM_001080955.1:c.575T>C, NM_001317157.2:c.731T>C, NM_001317157.1:c.731T>C, NM_001289045.2:c.731T>C, NM_001289045.1:c.731T>C, NM_001289046.2:c.731T>C, NM_001289046.1:c.731T>C, NM_001317162.2:c.731T>C, NM_001317162.1:c.731T>C, NM_001317159.2:c.731T>C, NM_001317159.1:c.731T>C, NM_001317161.2:c.731T>C, NM_001317161.1:c.731T>C, NM_001289048.2:c.731T>C, NM_001289048.1:c.731T>C, NM_001289043.2:c.731T>C, NM_001289043.1:c.731T>C, NM_001289049.2:c.731T>C, NM_001289049.1:c.731T>C, NM_001289044.2:c.731T>C, NM_001289044.1:c.731T>C, NM_001289047.2:c.731T>C, NM_001289047.1:c.731T>C, NM_001289042.2:c.731T>C, NM_001289042.1:c.731T>C, NM_001289041.2:c.575T>C, NM_001289041.1:c.575T>C, NM_001317160.2:c.575T>C, NM_001317160.1:c.575T>C, NM_001289039.2:c.575T>C, NM_001289039.1:c.575T>C, NM_001289040.2:c.575T>C, NM_001289040.1:c.575T>C, NM_001289037.2:c.575T>C, NM_001289037.1:c.575T>C, NM_001289038.2:c.575T>C, NM_001289038.1:c.575T>C, NM_001317156.1:c.731T>C, NM_001317158.1:c.575T>C, NM_002656.3:c.575T>C, NP_006709.2:p.Leu244Ser, NP_001074420.1:p.Leu244Ser, NP_001074421.1:p.Leu244Ser, NP_001074422.1:p.Leu244Ser, NP_001074423.1:p.Leu244Ser, NP_001074425.1:p.Leu192Ser, NP_001074424.1:p.Leu192Ser, NP_001304086.1:p.Leu244Ser, NP_001275974.1:p.Leu244Ser, NP_001275975.1:p.Leu244Ser, NP_001304091.1:p.Leu244Ser, NP_001304088.1:p.Leu244Ser, NP_001304090.1:p.Leu244Ser, NP_001275977.1:p.Leu244Ser, NP_001275972.1:p.Leu244Ser, NP_001275978.1:p.Leu244Ser, NP_001275973.1:p.Leu244Ser, NP_001275976.1:p.Leu244Ser, NP_001275971.1:p.Leu244Ser, NP_001275970.1:p.Leu192Ser, NP_001304089.1:p.Leu192Ser, NP_001275968.1:p.Leu192Ser, NP_001275969.1:p.Leu192Ser, NP_001275966.1:p.Leu192Ser, NP_001275967.1:p.Leu192Ser, NP_001304085.1:p.Leu244Ser, NP_001304087.1:p.Leu192Ser

                8.

                rs1467331432 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  6:143942579 (GRCh38)
                  6:144263716 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:143942578:G:A
                  Gene:
                  PLAGL1 (Varview)
                  Functional Consequence:
                  synonymous_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.143942579G>A, NC_000006.11:g.144263716G>A, NG_009384.2:g.127020C>T, NM_006718.5:c.237C>T, NM_006718.4:c.237C>T, NM_006718.3:c.237C>T, NM_001080951.3:c.237C>T, NM_001080951.2:c.237C>T, NM_001080951.1:c.237C>T, NM_001080952.3:c.237C>T, NM_001080952.2:c.237C>T, NM_001080952.1:c.237C>T, NM_001080953.3:c.237C>T, NM_001080953.2:c.237C>T, NM_001080953.1:c.237C>T, NM_001080954.3:c.237C>T, NM_001080954.2:c.237C>T, NM_001080954.1:c.237C>T, NM_001080956.3:c.81C>T, NM_001080956.2:c.81C>T, NM_001080956.1:c.81C>T, NM_001080955.3:c.81C>T, NM_001080955.2:c.81C>T, NM_001080955.1:c.81C>T, NM_001317157.2:c.237C>T, NM_001317157.1:c.237C>T, NM_001289045.2:c.237C>T, NM_001289045.1:c.237C>T, NM_001289046.2:c.237C>T, NM_001289046.1:c.237C>T, NM_001317162.2:c.237C>T, NM_001317162.1:c.237C>T, NM_001317159.2:c.237C>T, NM_001317159.1:c.237C>T, NM_001317161.2:c.237C>T, NM_001317161.1:c.237C>T, NM_001289048.2:c.237C>T, NM_001289048.1:c.237C>T, NM_001289043.2:c.237C>T, NM_001289043.1:c.237C>T, NM_001289049.2:c.237C>T, NM_001289049.1:c.237C>T, NM_001289044.2:c.237C>T, NM_001289044.1:c.237C>T, NM_001289047.2:c.237C>T, NM_001289047.1:c.237C>T, NM_001289042.2:c.237C>T, NM_001289042.1:c.237C>T, NM_001289041.2:c.81C>T, NM_001289041.1:c.81C>T, NM_001317160.2:c.81C>T, NM_001317160.1:c.81C>T, NM_001289039.2:c.81C>T, NM_001289039.1:c.81C>T, NM_001289040.2:c.81C>T, NM_001289040.1:c.81C>T, NM_001289037.2:c.81C>T, NM_001289037.1:c.81C>T, NM_001289038.2:c.81C>T, NM_001289038.1:c.81C>T, NM_001317156.1:c.237C>T, NM_001317158.1:c.81C>T, NM_002656.3:c.81C>T

                  9.

                  rs1461196109 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    6:143942507 (GRCh38)
                    6:144263644 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:143942506:C:T
                    Gene:
                    PLAGL1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000006.12:g.143942507C>T, NC_000006.11:g.144263644C>T, NG_009384.2:g.127092G>A, NM_006718.5:c.309G>A, NM_006718.4:c.309G>A, NM_006718.3:c.309G>A, NM_001080951.3:c.309G>A, NM_001080951.2:c.309G>A, NM_001080951.1:c.309G>A, NM_001080952.3:c.309G>A, NM_001080952.2:c.309G>A, NM_001080952.1:c.309G>A, NM_001080953.3:c.309G>A, NM_001080953.2:c.309G>A, NM_001080953.1:c.309G>A, NM_001080954.3:c.309G>A, NM_001080954.2:c.309G>A, NM_001080954.1:c.309G>A, NM_001080956.3:c.153G>A, NM_001080956.2:c.153G>A, NM_001080956.1:c.153G>A, NM_001080955.3:c.153G>A, NM_001080955.2:c.153G>A, NM_001080955.1:c.153G>A, NM_001317157.2:c.309G>A, NM_001317157.1:c.309G>A, NM_001289045.2:c.309G>A, NM_001289045.1:c.309G>A, NM_001289046.2:c.309G>A, NM_001289046.1:c.309G>A, NM_001317162.2:c.309G>A, NM_001317162.1:c.309G>A, NM_001317159.2:c.309G>A, NM_001317159.1:c.309G>A, NM_001317161.2:c.309G>A, NM_001317161.1:c.309G>A, NM_001289048.2:c.309G>A, NM_001289048.1:c.309G>A, NM_001289043.2:c.309G>A, NM_001289043.1:c.309G>A, NM_001289049.2:c.309G>A, NM_001289049.1:c.309G>A, NM_001289044.2:c.309G>A, NM_001289044.1:c.309G>A, NM_001289047.2:c.309G>A, NM_001289047.1:c.309G>A, NM_001289042.2:c.309G>A, NM_001289042.1:c.309G>A, NM_001289041.2:c.153G>A, NM_001289041.1:c.153G>A, NM_001317160.2:c.153G>A, NM_001317160.1:c.153G>A, NM_001289039.2:c.153G>A, NM_001289039.1:c.153G>A, NM_001289040.2:c.153G>A, NM_001289040.1:c.153G>A, NM_001289037.2:c.153G>A, NM_001289037.1:c.153G>A, NM_001289038.2:c.153G>A, NM_001289038.1:c.153G>A, NM_001317156.1:c.309G>A, NM_001317158.1:c.153G>A, NM_002656.3:c.153G>A, NP_006709.2:p.Met103Ile, NP_001074420.1:p.Met103Ile, NP_001074421.1:p.Met103Ile, NP_001074422.1:p.Met103Ile, NP_001074423.1:p.Met103Ile, NP_001074425.1:p.Met51Ile, NP_001074424.1:p.Met51Ile, NP_001304086.1:p.Met103Ile, NP_001275974.1:p.Met103Ile, NP_001275975.1:p.Met103Ile, NP_001304091.1:p.Met103Ile, NP_001304088.1:p.Met103Ile, NP_001304090.1:p.Met103Ile, NP_001275977.1:p.Met103Ile, NP_001275972.1:p.Met103Ile, NP_001275978.1:p.Met103Ile, NP_001275973.1:p.Met103Ile, NP_001275976.1:p.Met103Ile, NP_001275971.1:p.Met103Ile, NP_001275970.1:p.Met51Ile, NP_001304089.1:p.Met51Ile, NP_001275968.1:p.Met51Ile, NP_001275969.1:p.Met51Ile, NP_001275966.1:p.Met51Ile, NP_001275967.1:p.Met51Ile, NP_001304085.1:p.Met103Ile, NP_001304087.1:p.Met51Ile

                    10.

                    rs1455484412 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:143942098 (GRCh38)
                      6:144263235 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:143942097:G:A
                      Gene:
                      PLAGL1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000006.12:g.143942098G>A, NC_000006.11:g.144263235G>A, NG_009384.2:g.127501C>T, NM_006718.5:c.718C>T, NM_006718.4:c.718C>T, NM_006718.3:c.718C>T, NM_001080951.3:c.718C>T, NM_001080951.2:c.718C>T, NM_001080951.1:c.718C>T, NM_001080952.3:c.718C>T, NM_001080952.2:c.718C>T, NM_001080952.1:c.718C>T, NM_001080953.3:c.718C>T, NM_001080953.2:c.718C>T, NM_001080953.1:c.718C>T, NM_001080954.3:c.718C>T, NM_001080954.2:c.718C>T, NM_001080954.1:c.718C>T, NM_001080956.3:c.562C>T, NM_001080956.2:c.562C>T, NM_001080956.1:c.562C>T, NM_001080955.3:c.562C>T, NM_001080955.2:c.562C>T, NM_001080955.1:c.562C>T, NM_001317157.2:c.718C>T, NM_001317157.1:c.718C>T, NM_001289045.2:c.718C>T, NM_001289045.1:c.718C>T, NM_001289046.2:c.718C>T, NM_001289046.1:c.718C>T, NM_001317162.2:c.718C>T, NM_001317162.1:c.718C>T, NM_001317159.2:c.718C>T, NM_001317159.1:c.718C>T, NM_001317161.2:c.718C>T, NM_001317161.1:c.718C>T, NM_001289048.2:c.718C>T, NM_001289048.1:c.718C>T, NM_001289043.2:c.718C>T, NM_001289043.1:c.718C>T, NM_001289049.2:c.718C>T, NM_001289049.1:c.718C>T, NM_001289044.2:c.718C>T, NM_001289044.1:c.718C>T, NM_001289047.2:c.718C>T, NM_001289047.1:c.718C>T, NM_001289042.2:c.718C>T, NM_001289042.1:c.718C>T, NM_001289041.2:c.562C>T, NM_001289041.1:c.562C>T, NM_001317160.2:c.562C>T, NM_001317160.1:c.562C>T, NM_001289039.2:c.562C>T, NM_001289039.1:c.562C>T, NM_001289040.2:c.562C>T, NM_001289040.1:c.562C>T, NM_001289037.2:c.562C>T, NM_001289037.1:c.562C>T, NM_001289038.2:c.562C>T, NM_001289038.1:c.562C>T, NM_001317156.1:c.718C>T, NM_001317158.1:c.562C>T, NM_002656.3:c.562C>T, NP_006709.2:p.Pro240Ser, NP_001074420.1:p.Pro240Ser, NP_001074421.1:p.Pro240Ser, NP_001074422.1:p.Pro240Ser, NP_001074423.1:p.Pro240Ser, NP_001074425.1:p.Pro188Ser, NP_001074424.1:p.Pro188Ser, NP_001304086.1:p.Pro240Ser, NP_001275974.1:p.Pro240Ser, NP_001275975.1:p.Pro240Ser, NP_001304091.1:p.Pro240Ser, NP_001304088.1:p.Pro240Ser, NP_001304090.1:p.Pro240Ser, NP_001275977.1:p.Pro240Ser, NP_001275972.1:p.Pro240Ser, NP_001275978.1:p.Pro240Ser, NP_001275973.1:p.Pro240Ser, NP_001275976.1:p.Pro240Ser, NP_001275971.1:p.Pro240Ser, NP_001275970.1:p.Pro188Ser, NP_001304089.1:p.Pro188Ser, NP_001275968.1:p.Pro188Ser, NP_001275969.1:p.Pro188Ser, NP_001275966.1:p.Pro188Ser, NP_001275967.1:p.Pro188Ser, NP_001304085.1:p.Pro240Ser, NP_001304087.1:p.Pro188Ser

                      11.

                      rs1454277636 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:143941647 (GRCh38)
                        6:144262784 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:143941646:G:A
                        Gene:
                        PLAGL1 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000006.12:g.143941647G>A, NC_000006.11:g.144262784G>A, NG_009384.2:g.127952C>T, NM_006718.5:c.1169C>T, NM_006718.4:c.1169C>T, NM_006718.3:c.1169C>T, NM_001080951.3:c.1169C>T, NM_001080951.2:c.1169C>T, NM_001080951.1:c.1169C>T, NM_001080952.3:c.1169C>T, NM_001080952.2:c.1169C>T, NM_001080952.1:c.1169C>T, NM_001080953.3:c.1169C>T, NM_001080953.2:c.1169C>T, NM_001080953.1:c.1169C>T, NM_001080954.3:c.1169C>T, NM_001080954.2:c.1169C>T, NM_001080954.1:c.1169C>T, NM_001080956.3:c.1013C>T, NM_001080956.2:c.1013C>T, NM_001080956.1:c.1013C>T, NM_001080955.3:c.1013C>T, NM_001080955.2:c.1013C>T, NM_001080955.1:c.1013C>T, NM_001317157.2:c.1169C>T, NM_001317157.1:c.1169C>T, NM_001289045.2:c.1169C>T, NM_001289045.1:c.1169C>T, NM_001289046.2:c.1169C>T, NM_001289046.1:c.1169C>T, NM_001317162.2:c.1169C>T, NM_001317162.1:c.1169C>T, NM_001317159.2:c.1169C>T, NM_001317159.1:c.1169C>T, NM_001317161.2:c.1169C>T, NM_001317161.1:c.1169C>T, NM_001289048.2:c.1169C>T, NM_001289048.1:c.1169C>T, NM_001289043.2:c.1169C>T, NM_001289043.1:c.1169C>T, NM_001289049.2:c.1169C>T, NM_001289049.1:c.1169C>T, NM_001289044.2:c.1169C>T, NM_001289044.1:c.1169C>T, NM_001289047.2:c.1169C>T, NM_001289047.1:c.1169C>T, NM_001289042.2:c.1169C>T, NM_001289042.1:c.1169C>T, NM_001289041.2:c.1013C>T, NM_001289041.1:c.1013C>T, NM_001317160.2:c.1013C>T, NM_001317160.1:c.1013C>T, NM_001289039.2:c.1013C>T, NM_001289039.1:c.1013C>T, NM_001289040.2:c.1013C>T, NM_001289040.1:c.1013C>T, NM_001289037.2:c.1013C>T, NM_001289037.1:c.1013C>T, NM_001289038.2:c.1013C>T, NM_001289038.1:c.1013C>T, NM_001317156.1:c.1169C>T, NM_001317158.1:c.1013C>T, NM_002656.3:c.1013C>T, NP_006709.2:p.Pro390Leu, NP_001074420.1:p.Pro390Leu, NP_001074421.1:p.Pro390Leu, NP_001074422.1:p.Pro390Leu, NP_001074423.1:p.Pro390Leu, NP_001074425.1:p.Pro338Leu, NP_001074424.1:p.Pro338Leu, NP_001304086.1:p.Pro390Leu, NP_001275974.1:p.Pro390Leu, NP_001275975.1:p.Pro390Leu, NP_001304091.1:p.Pro390Leu, NP_001304088.1:p.Pro390Leu, NP_001304090.1:p.Pro390Leu, NP_001275977.1:p.Pro390Leu, NP_001275972.1:p.Pro390Leu, NP_001275978.1:p.Pro390Leu, NP_001275973.1:p.Pro390Leu, NP_001275976.1:p.Pro390Leu, NP_001275971.1:p.Pro390Leu, NP_001275970.1:p.Pro338Leu, NP_001304089.1:p.Pro338Leu, NP_001275968.1:p.Pro338Leu, NP_001275969.1:p.Pro338Leu, NP_001275966.1:p.Pro338Leu, NP_001275967.1:p.Pro338Leu, NP_001304085.1:p.Pro390Leu, NP_001304087.1:p.Pro338Leu

                        12.

                        rs1450805284 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          ->TTTAC [Show Flanks]
                          Chromosome:
                          6:143941736 (GRCh38)
                          6:144262874 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:143941736:TTTACTTTAC:TTTACTTTACTTTAC
                          Gene:
                          PLAGL1 (Varview)
                          Functional Consequence:
                          inframe_indel,stop_gained,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          TTTAC=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000006.12:g.143941737TTTAC[3], NC_000006.11:g.144262874TTTAC[3], NG_009384.2:g.127853GTAAA[3], NM_006718.5:c.1075_1079dup, NM_006718.4:c.1075_1079dup, NM_006718.3:c.1075_1079dup, NM_001080951.3:c.1075_1079dup, NM_001080951.2:c.1075_1079dup, NM_001080951.1:c.1075_1079dup, NM_001080952.3:c.1075_1079dup, NM_001080952.2:c.1075_1079dup, NM_001080952.1:c.1075_1079dup, NM_001080953.3:c.1075_1079dup, NM_001080953.2:c.1075_1079dup, NM_001080953.1:c.1075_1079dup, NM_001080954.3:c.1075_1079dup, NM_001080954.2:c.1075_1079dup, NM_001080954.1:c.1075_1079dup, NM_001080956.3:c.919_923dup, NM_001080956.2:c.919_923dup, NM_001080956.1:c.919_923dup, NM_001080955.3:c.919_923dup, NM_001080955.2:c.919_923dup, NM_001080955.1:c.919_923dup, NM_001317157.2:c.1075_1079dup, NM_001317157.1:c.1075_1079dup, NM_001289045.2:c.1075_1079dup, NM_001289045.1:c.1075_1079dup, NM_001289046.2:c.1075_1079dup, NM_001289046.1:c.1075_1079dup, NM_001317162.2:c.1075_1079dup, NM_001317162.1:c.1075_1079dup, NM_001317159.2:c.1075_1079dup, NM_001317159.1:c.1075_1079dup, NM_001317161.2:c.1075_1079dup, NM_001317161.1:c.1075_1079dup, NM_001289048.2:c.1075_1079dup, NM_001289048.1:c.1075_1079dup, NM_001289043.2:c.1075_1079dup, NM_001289043.1:c.1075_1079dup, NM_001289049.2:c.1075_1079dup, NM_001289049.1:c.1075_1079dup, NM_001289044.2:c.1075_1079dup, NM_001289044.1:c.1075_1079dup, NM_001289047.2:c.1075_1079dup, NM_001289047.1:c.1075_1079dup, NM_001289042.2:c.1075_1079dup, NM_001289042.1:c.1075_1079dup, NM_001289041.2:c.919_923dup, NM_001289041.1:c.919_923dup, NM_001317160.2:c.919_923dup, NM_001317160.1:c.919_923dup, NM_001289039.2:c.919_923dup, NM_001289039.1:c.919_923dup, NM_001289040.2:c.919_923dup, NM_001289040.1:c.919_923dup, NM_001289037.2:c.919_923dup, NM_001289037.1:c.919_923dup, NM_001289038.2:c.919_923dup, NM_001289038.1:c.919_923dup, NM_001317156.1:c.1075_1079dup, NM_001317158.1:c.919_923dup, NM_002656.3:c.919_923dup, NP_006709.2:p.Asn360delinsLysTer, NP_001074420.1:p.Asn360delinsLysTer, NP_001074421.1:p.Asn360delinsLysTer, NP_001074422.1:p.Asn360delinsLysTer, NP_001074423.1:p.Asn360delinsLysTer, NP_001074425.1:p.Asn308delinsLysTer, NP_001074424.1:p.Asn308delinsLysTer, NP_001304086.1:p.Asn360delinsLysTer, NP_001275974.1:p.Asn360delinsLysTer, NP_001275975.1:p.Asn360delinsLysTer, NP_001304091.1:p.Asn360delinsLysTer, NP_001304088.1:p.Asn360delinsLysTer, NP_001304090.1:p.Asn360delinsLysTer, NP_001275977.1:p.Asn360delinsLysTer, NP_001275972.1:p.Asn360delinsLysTer, NP_001275978.1:p.Asn360delinsLysTer, NP_001275973.1:p.Asn360delinsLysTer, NP_001275976.1:p.Asn360delinsLysTer, NP_001275971.1:p.Asn360delinsLysTer, NP_001275970.1:p.Asn308delinsLysTer, NP_001304089.1:p.Asn308delinsLysTer, NP_001275968.1:p.Asn308delinsLysTer, NP_001275969.1:p.Asn308delinsLysTer, NP_001275966.1:p.Asn308delinsLysTer, NP_001275967.1:p.Asn308delinsLysTer, NP_001304085.1:p.Asn360delinsLysTer, NP_001304087.1:p.Asn308delinsLysTer

                          13.

                          rs1450592812 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:143942285 (GRCh38)
                            6:144263422 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:143942284:G:A
                            Gene:
                            PLAGL1 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (TOPMED)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000006.12:g.143942285G>A, NC_000006.11:g.144263422G>A, NG_009384.2:g.127314C>T, NM_006718.5:c.531C>T, NM_006718.4:c.531C>T, NM_006718.3:c.531C>T, NM_001080951.3:c.531C>T, NM_001080951.2:c.531C>T, NM_001080951.1:c.531C>T, NM_001080952.3:c.531C>T, NM_001080952.2:c.531C>T, NM_001080952.1:c.531C>T, NM_001080953.3:c.531C>T, NM_001080953.2:c.531C>T, NM_001080953.1:c.531C>T, NM_001080954.3:c.531C>T, NM_001080954.2:c.531C>T, NM_001080954.1:c.531C>T, NM_001080956.3:c.375C>T, NM_001080956.2:c.375C>T, NM_001080956.1:c.375C>T, NM_001080955.3:c.375C>T, NM_001080955.2:c.375C>T, NM_001080955.1:c.375C>T, NM_001317157.2:c.531C>T, NM_001317157.1:c.531C>T, NM_001289045.2:c.531C>T, NM_001289045.1:c.531C>T, NM_001289046.2:c.531C>T, NM_001289046.1:c.531C>T, NM_001317162.2:c.531C>T, NM_001317162.1:c.531C>T, NM_001317159.2:c.531C>T, NM_001317159.1:c.531C>T, NM_001317161.2:c.531C>T, NM_001317161.1:c.531C>T, NM_001289048.2:c.531C>T, NM_001289048.1:c.531C>T, NM_001289043.2:c.531C>T, NM_001289043.1:c.531C>T, NM_001289049.2:c.531C>T, NM_001289049.1:c.531C>T, NM_001289044.2:c.531C>T, NM_001289044.1:c.531C>T, NM_001289047.2:c.531C>T, NM_001289047.1:c.531C>T, NM_001289042.2:c.531C>T, NM_001289042.1:c.531C>T, NM_001289041.2:c.375C>T, NM_001289041.1:c.375C>T, NM_001317160.2:c.375C>T, NM_001317160.1:c.375C>T, NM_001289039.2:c.375C>T, NM_001289039.1:c.375C>T, NM_001289040.2:c.375C>T, NM_001289040.1:c.375C>T, NM_001289037.2:c.375C>T, NM_001289037.1:c.375C>T, NM_001289038.2:c.375C>T, NM_001289038.1:c.375C>T, NM_001317156.1:c.531C>T, NM_001317158.1:c.375C>T, NM_002656.3:c.375C>T

                            14.

                            rs1445904582 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              ->G [Show Flanks]
                              Chromosome:
                              6:143941538 (GRCh38)
                              6:144262676 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:143941538:GGGGG:GGGGGG
                              Gene:
                              PLAGL1 (Varview)
                              Functional Consequence:
                              frameshift_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GGGGGG=0./0 (ALFA)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000006.12:g.143941543dup, NC_000006.11:g.144262680dup, NG_009384.2:g.128060dup, NM_006718.5:c.1277dup, NM_006718.4:c.1277dup, NM_006718.3:c.1277dup, NM_001080951.3:c.1277dup, NM_001080951.2:c.1277dup, NM_001080951.1:c.1277dup, NM_001080952.3:c.1277dup, NM_001080952.2:c.1277dup, NM_001080952.1:c.1277dup, NM_001080953.3:c.1277dup, NM_001080953.2:c.1277dup, NM_001080953.1:c.1277dup, NM_001080954.3:c.1277dup, NM_001080954.2:c.1277dup, NM_001080954.1:c.1277dup, NM_001080956.3:c.1121dup, NM_001080956.2:c.1121dup, NM_001080956.1:c.1121dup, NM_001080955.3:c.1121dup, NM_001080955.2:c.1121dup, NM_001080955.1:c.1121dup, NM_001317157.2:c.1277dup, NM_001317157.1:c.1277dup, NM_001289045.2:c.1277dup, NM_001289045.1:c.1277dup, NM_001289046.2:c.1277dup, NM_001289046.1:c.1277dup, NM_001317162.2:c.1277dup, NM_001317162.1:c.1277dup, NM_001317159.2:c.1277dup, NM_001317159.1:c.1277dup, NM_001317161.2:c.1277dup, NM_001317161.1:c.1277dup, NM_001289048.2:c.1277dup, NM_001289048.1:c.1277dup, NM_001289043.2:c.1277dup, NM_001289043.1:c.1277dup, NM_001289049.2:c.1277dup, NM_001289049.1:c.1277dup, NM_001289044.2:c.1277dup, NM_001289044.1:c.1277dup, NM_001289047.2:c.1277dup, NM_001289047.1:c.1277dup, NM_001289042.2:c.1277dup, NM_001289042.1:c.1277dup, NM_001289041.2:c.1121dup, NM_001289041.1:c.1121dup, NM_001317160.2:c.1121dup, NM_001317160.1:c.1121dup, NM_001289039.2:c.1121dup, NM_001289039.1:c.1121dup, NM_001289040.2:c.1121dup, NM_001289040.1:c.1121dup, NM_001289037.2:c.1121dup, NM_001289037.1:c.1121dup, NM_001289038.2:c.1121dup, NM_001289038.1:c.1121dup, NM_001317156.1:c.1277dup, NM_001317158.1:c.1121dup, NM_002656.3:c.1121dup, NP_006709.2:p.Leu427fs, NP_001074420.1:p.Leu427fs, NP_001074421.1:p.Leu427fs, NP_001074422.1:p.Leu427fs, NP_001074423.1:p.Leu427fs, NP_001074425.1:p.Leu375fs, NP_001074424.1:p.Leu375fs, NP_001304086.1:p.Leu427fs, NP_001275974.1:p.Leu427fs, NP_001275975.1:p.Leu427fs, NP_001304091.1:p.Leu427fs, NP_001304088.1:p.Leu427fs, NP_001304090.1:p.Leu427fs, NP_001275977.1:p.Leu427fs, NP_001275972.1:p.Leu427fs, NP_001275978.1:p.Leu427fs, NP_001275973.1:p.Leu427fs, NP_001275976.1:p.Leu427fs, NP_001275971.1:p.Leu427fs, NP_001275970.1:p.Leu375fs, NP_001304089.1:p.Leu375fs, NP_001275968.1:p.Leu375fs, NP_001275969.1:p.Leu375fs, NP_001275966.1:p.Leu375fs, NP_001275967.1:p.Leu375fs, NP_001304085.1:p.Leu427fs, NP_001304087.1:p.Leu375fs

                              15.

                              rs1440436992 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,T [Show Flanks]
                                Chromosome:
                                6:143942141 (GRCh38)
                                6:144263278 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:143942140:G:A,NC_000006.12:143942140:G:T
                                Gene:
                                PLAGL1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                T=0.000008/2 (GnomAD_exomes)
                                HGVS:
                                NC_000006.12:g.143942141G>A, NC_000006.12:g.143942141G>T, NC_000006.11:g.144263278G>A, NC_000006.11:g.144263278G>T, NG_009384.2:g.127458C>T, NG_009384.2:g.127458C>A, NM_006718.5:c.675C>T, NM_006718.5:c.675C>A, NM_006718.4:c.675C>T, NM_006718.4:c.675C>A, NM_006718.3:c.675C>T, NM_006718.3:c.675C>A, NM_001080951.3:c.675C>T, NM_001080951.3:c.675C>A, NM_001080951.2:c.675C>T, NM_001080951.2:c.675C>A, NM_001080951.1:c.675C>T, NM_001080951.1:c.675C>A, NM_001080952.3:c.675C>T, NM_001080952.3:c.675C>A, NM_001080952.2:c.675C>T, NM_001080952.2:c.675C>A, NM_001080952.1:c.675C>T, NM_001080952.1:c.675C>A, NM_001080953.3:c.675C>T, NM_001080953.3:c.675C>A, NM_001080953.2:c.675C>T, NM_001080953.2:c.675C>A, NM_001080953.1:c.675C>T, NM_001080953.1:c.675C>A, NM_001080954.3:c.675C>T, NM_001080954.3:c.675C>A, NM_001080954.2:c.675C>T, NM_001080954.2:c.675C>A, NM_001080954.1:c.675C>T, NM_001080954.1:c.675C>A, NM_001080956.3:c.519C>T, NM_001080956.3:c.519C>A, NM_001080956.2:c.519C>T, NM_001080956.2:c.519C>A, NM_001080956.1:c.519C>T, NM_001080956.1:c.519C>A, NM_001080955.3:c.519C>T, NM_001080955.3:c.519C>A, NM_001080955.2:c.519C>T, NM_001080955.2:c.519C>A, NM_001080955.1:c.519C>T, NM_001080955.1:c.519C>A, NM_001317157.2:c.675C>T, NM_001317157.2:c.675C>A, NM_001317157.1:c.675C>T, NM_001317157.1:c.675C>A, NM_001289045.2:c.675C>T, NM_001289045.2:c.675C>A, NM_001289045.1:c.675C>T, NM_001289045.1:c.675C>A, NM_001289046.2:c.675C>T, NM_001289046.2:c.675C>A, NM_001289046.1:c.675C>T, NM_001289046.1:c.675C>A, NM_001317162.2:c.675C>T, NM_001317162.2:c.675C>A, NM_001317162.1:c.675C>T, NM_001317162.1:c.675C>A, NM_001317159.2:c.675C>T, NM_001317159.2:c.675C>A, NM_001317159.1:c.675C>T, NM_001317159.1:c.675C>A, NM_001317161.2:c.675C>T, NM_001317161.2:c.675C>A, NM_001317161.1:c.675C>T, NM_001317161.1:c.675C>A, NM_001289048.2:c.675C>T, NM_001289048.2:c.675C>A, NM_001289048.1:c.675C>T, NM_001289048.1:c.675C>A, NM_001289043.2:c.675C>T, NM_001289043.2:c.675C>A, NM_001289043.1:c.675C>T, NM_001289043.1:c.675C>A, NM_001289049.2:c.675C>T, NM_001289049.2:c.675C>A, NM_001289049.1:c.675C>T, NM_001289049.1:c.675C>A, NM_001289044.2:c.675C>T, NM_001289044.2:c.675C>A, NM_001289044.1:c.675C>T, NM_001289044.1:c.675C>A, NM_001289047.2:c.675C>T, NM_001289047.2:c.675C>A, NM_001289047.1:c.675C>T, NM_001289047.1:c.675C>A, NM_001289042.2:c.675C>T, NM_001289042.2:c.675C>A, NM_001289042.1:c.675C>T, NM_001289042.1:c.675C>A, NM_001289041.2:c.519C>T, NM_001289041.2:c.519C>A, NM_001289041.1:c.519C>T, NM_001289041.1:c.519C>A, NM_001317160.2:c.519C>T, NM_001317160.2:c.519C>A, NM_001317160.1:c.519C>T, NM_001317160.1:c.519C>A, NM_001289039.2:c.519C>T, NM_001289039.2:c.519C>A, NM_001289039.1:c.519C>T, NM_001289039.1:c.519C>A, NM_001289040.2:c.519C>T, NM_001289040.2:c.519C>A, NM_001289040.1:c.519C>T, NM_001289040.1:c.519C>A, NM_001289037.2:c.519C>T, NM_001289037.2:c.519C>A, NM_001289037.1:c.519C>T, NM_001289037.1:c.519C>A, NM_001289038.2:c.519C>T, NM_001289038.2:c.519C>A, NM_001289038.1:c.519C>T, NM_001289038.1:c.519C>A, NM_001317156.1:c.675C>T, NM_001317156.1:c.675C>A, NM_001317158.1:c.519C>T, NM_001317158.1:c.519C>A, NM_002656.3:c.519C>T, NM_002656.3:c.519C>A, NP_006709.2:p.Phe225Leu, NP_001074420.1:p.Phe225Leu, NP_001074421.1:p.Phe225Leu, NP_001074422.1:p.Phe225Leu, NP_001074423.1:p.Phe225Leu, NP_001074425.1:p.Phe173Leu, NP_001074424.1:p.Phe173Leu, NP_001304086.1:p.Phe225Leu, NP_001275974.1:p.Phe225Leu, NP_001275975.1:p.Phe225Leu, NP_001304091.1:p.Phe225Leu, NP_001304088.1:p.Phe225Leu, NP_001304090.1:p.Phe225Leu, NP_001275977.1:p.Phe225Leu, NP_001275972.1:p.Phe225Leu, NP_001275978.1:p.Phe225Leu, NP_001275973.1:p.Phe225Leu, NP_001275976.1:p.Phe225Leu, NP_001275971.1:p.Phe225Leu, NP_001275970.1:p.Phe173Leu, NP_001304089.1:p.Phe173Leu, NP_001275968.1:p.Phe173Leu, NP_001275969.1:p.Phe173Leu, NP_001275966.1:p.Phe173Leu, NP_001275967.1:p.Phe173Leu, NP_001304085.1:p.Phe225Leu, NP_001304087.1:p.Phe173Leu

                                16.

                                rs1439245820 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  6:143942014 (GRCh38)
                                  6:144263151 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:143942013:G:A
                                  Gene:
                                  PLAGL1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  A=0./0 (ALFA)
                                  A=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000006.12:g.143942014G>A, NC_000006.11:g.144263151G>A, NG_009384.2:g.127585C>T, NM_006718.5:c.802C>T, NM_006718.4:c.802C>T, NM_006718.3:c.802C>T, NM_001080951.3:c.802C>T, NM_001080951.2:c.802C>T, NM_001080951.1:c.802C>T, NM_001080952.3:c.802C>T, NM_001080952.2:c.802C>T, NM_001080952.1:c.802C>T, NM_001080953.3:c.802C>T, NM_001080953.2:c.802C>T, NM_001080953.1:c.802C>T, NM_001080954.3:c.802C>T, NM_001080954.2:c.802C>T, NM_001080954.1:c.802C>T, NM_001080956.3:c.646C>T, NM_001080956.2:c.646C>T, NM_001080956.1:c.646C>T, NM_001080955.3:c.646C>T, NM_001080955.2:c.646C>T, NM_001080955.1:c.646C>T, NM_001317157.2:c.802C>T, NM_001317157.1:c.802C>T, NM_001289045.2:c.802C>T, NM_001289045.1:c.802C>T, NM_001289046.2:c.802C>T, NM_001289046.1:c.802C>T, NM_001317162.2:c.802C>T, NM_001317162.1:c.802C>T, NM_001317159.2:c.802C>T, NM_001317159.1:c.802C>T, NM_001317161.2:c.802C>T, NM_001317161.1:c.802C>T, NM_001289048.2:c.802C>T, NM_001289048.1:c.802C>T, NM_001289043.2:c.802C>T, NM_001289043.1:c.802C>T, NM_001289049.2:c.802C>T, NM_001289049.1:c.802C>T, NM_001289044.2:c.802C>T, NM_001289044.1:c.802C>T, NM_001289047.2:c.802C>T, NM_001289047.1:c.802C>T, NM_001289042.2:c.802C>T, NM_001289042.1:c.802C>T, NM_001289041.2:c.646C>T, NM_001289041.1:c.646C>T, NM_001317160.2:c.646C>T, NM_001317160.1:c.646C>T, NM_001289039.2:c.646C>T, NM_001289039.1:c.646C>T, NM_001289040.2:c.646C>T, NM_001289040.1:c.646C>T, NM_001289037.2:c.646C>T, NM_001289037.1:c.646C>T, NM_001289038.2:c.646C>T, NM_001289038.1:c.646C>T, NM_001317156.1:c.802C>T, NM_001317158.1:c.646C>T, NM_002656.3:c.646C>T, NP_006709.2:p.Pro268Ser, NP_001074420.1:p.Pro268Ser, NP_001074421.1:p.Pro268Ser, NP_001074422.1:p.Pro268Ser, NP_001074423.1:p.Pro268Ser, NP_001074425.1:p.Pro216Ser, NP_001074424.1:p.Pro216Ser, NP_001304086.1:p.Pro268Ser, NP_001275974.1:p.Pro268Ser, NP_001275975.1:p.Pro268Ser, NP_001304091.1:p.Pro268Ser, NP_001304088.1:p.Pro268Ser, NP_001304090.1:p.Pro268Ser, NP_001275977.1:p.Pro268Ser, NP_001275972.1:p.Pro268Ser, NP_001275978.1:p.Pro268Ser, NP_001275973.1:p.Pro268Ser, NP_001275976.1:p.Pro268Ser, NP_001275971.1:p.Pro268Ser, NP_001275970.1:p.Pro216Ser, NP_001304089.1:p.Pro216Ser, NP_001275968.1:p.Pro216Ser, NP_001275969.1:p.Pro216Ser, NP_001275966.1:p.Pro216Ser, NP_001275967.1:p.Pro216Ser, NP_001304085.1:p.Pro268Ser, NP_001304087.1:p.Pro216Ser

                                  17.

                                  rs1436806446 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C,T [Show Flanks]
                                    Chromosome:
                                    6:143941996 (GRCh38)
                                    6:144263133 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:143941995:G:C,NC_000006.12:143941995:G:T
                                    Gene:
                                    PLAGL1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    T=0.000009/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000006.12:g.143941996G>C, NC_000006.12:g.143941996G>T, NC_000006.11:g.144263133G>C, NC_000006.11:g.144263133G>T, NG_009384.2:g.127603C>G, NG_009384.2:g.127603C>A, NM_006718.5:c.820C>G, NM_006718.5:c.820C>A, NM_006718.4:c.820C>G, NM_006718.4:c.820C>A, NM_006718.3:c.820C>G, NM_006718.3:c.820C>A, NM_001080951.3:c.820C>G, NM_001080951.3:c.820C>A, NM_001080951.2:c.820C>G, NM_001080951.2:c.820C>A, NM_001080951.1:c.820C>G, NM_001080951.1:c.820C>A, NM_001080952.3:c.820C>G, NM_001080952.3:c.820C>A, NM_001080952.2:c.820C>G, NM_001080952.2:c.820C>A, NM_001080952.1:c.820C>G, NM_001080952.1:c.820C>A, NM_001080953.3:c.820C>G, NM_001080953.3:c.820C>A, NM_001080953.2:c.820C>G, NM_001080953.2:c.820C>A, NM_001080953.1:c.820C>G, NM_001080953.1:c.820C>A, NM_001080954.3:c.820C>G, NM_001080954.3:c.820C>A, NM_001080954.2:c.820C>G, NM_001080954.2:c.820C>A, NM_001080954.1:c.820C>G, NM_001080954.1:c.820C>A, NM_001080956.3:c.664C>G, NM_001080956.3:c.664C>A, NM_001080956.2:c.664C>G, NM_001080956.2:c.664C>A, NM_001080956.1:c.664C>G, NM_001080956.1:c.664C>A, NM_001080955.3:c.664C>G, NM_001080955.3:c.664C>A, NM_001080955.2:c.664C>G, NM_001080955.2:c.664C>A, NM_001080955.1:c.664C>G, NM_001080955.1:c.664C>A, NM_001317157.2:c.820C>G, NM_001317157.2:c.820C>A, NM_001317157.1:c.820C>G, NM_001317157.1:c.820C>A, NM_001289045.2:c.820C>G, NM_001289045.2:c.820C>A, NM_001289045.1:c.820C>G, NM_001289045.1:c.820C>A, NM_001289046.2:c.820C>G, NM_001289046.2:c.820C>A, NM_001289046.1:c.820C>G, NM_001289046.1:c.820C>A, NM_001317162.2:c.820C>G, NM_001317162.2:c.820C>A, NM_001317162.1:c.820C>G, NM_001317162.1:c.820C>A, NM_001317159.2:c.820C>G, NM_001317159.2:c.820C>A, NM_001317159.1:c.820C>G, NM_001317159.1:c.820C>A, NM_001317161.2:c.820C>G, NM_001317161.2:c.820C>A, NM_001317161.1:c.820C>G, NM_001317161.1:c.820C>A, NM_001289048.2:c.820C>G, NM_001289048.2:c.820C>A, NM_001289048.1:c.820C>G, NM_001289048.1:c.820C>A, NM_001289043.2:c.820C>G, NM_001289043.2:c.820C>A, NM_001289043.1:c.820C>G, NM_001289043.1:c.820C>A, NM_001289049.2:c.820C>G, NM_001289049.2:c.820C>A, NM_001289049.1:c.820C>G, NM_001289049.1:c.820C>A, NM_001289044.2:c.820C>G, NM_001289044.2:c.820C>A, NM_001289044.1:c.820C>G, NM_001289044.1:c.820C>A, NM_001289047.2:c.820C>G, NM_001289047.2:c.820C>A, NM_001289047.1:c.820C>G, NM_001289047.1:c.820C>A, NM_001289042.2:c.820C>G, NM_001289042.2:c.820C>A, NM_001289042.1:c.820C>G, NM_001289042.1:c.820C>A, NM_001289041.2:c.664C>G, NM_001289041.2:c.664C>A, NM_001289041.1:c.664C>G, NM_001289041.1:c.664C>A, NM_001317160.2:c.664C>G, NM_001317160.2:c.664C>A, NM_001317160.1:c.664C>G, NM_001317160.1:c.664C>A, NM_001289039.2:c.664C>G, NM_001289039.2:c.664C>A, NM_001289039.1:c.664C>G, NM_001289039.1:c.664C>A, NM_001289040.2:c.664C>G, NM_001289040.2:c.664C>A, NM_001289040.1:c.664C>G, NM_001289040.1:c.664C>A, NM_001289037.2:c.664C>G, NM_001289037.2:c.664C>A, NM_001289037.1:c.664C>G, NM_001289037.1:c.664C>A, NM_001289038.2:c.664C>G, NM_001289038.2:c.664C>A, NM_001289038.1:c.664C>G, NM_001289038.1:c.664C>A, NM_001317156.1:c.820C>G, NM_001317156.1:c.820C>A, NM_001317158.1:c.664C>G, NM_001317158.1:c.664C>A, NM_002656.3:c.664C>G, NM_002656.3:c.664C>A, NP_006709.2:p.Pro274Ala, NP_006709.2:p.Pro274Thr, NP_001074420.1:p.Pro274Ala, NP_001074420.1:p.Pro274Thr, NP_001074421.1:p.Pro274Ala, NP_001074421.1:p.Pro274Thr, NP_001074422.1:p.Pro274Ala, NP_001074422.1:p.Pro274Thr, NP_001074423.1:p.Pro274Ala, NP_001074423.1:p.Pro274Thr, NP_001074425.1:p.Pro222Ala, NP_001074425.1:p.Pro222Thr, NP_001074424.1:p.Pro222Ala, NP_001074424.1:p.Pro222Thr, NP_001304086.1:p.Pro274Ala, NP_001304086.1:p.Pro274Thr, NP_001275974.1:p.Pro274Ala, NP_001275974.1:p.Pro274Thr, NP_001275975.1:p.Pro274Ala, NP_001275975.1:p.Pro274Thr, NP_001304091.1:p.Pro274Ala, NP_001304091.1:p.Pro274Thr, NP_001304088.1:p.Pro274Ala, NP_001304088.1:p.Pro274Thr, NP_001304090.1:p.Pro274Ala, NP_001304090.1:p.Pro274Thr, NP_001275977.1:p.Pro274Ala, NP_001275977.1:p.Pro274Thr, NP_001275972.1:p.Pro274Ala, NP_001275972.1:p.Pro274Thr, NP_001275978.1:p.Pro274Ala, NP_001275978.1:p.Pro274Thr, NP_001275973.1:p.Pro274Ala, NP_001275973.1:p.Pro274Thr, NP_001275976.1:p.Pro274Ala, NP_001275976.1:p.Pro274Thr, NP_001275971.1:p.Pro274Ala, NP_001275971.1:p.Pro274Thr, NP_001275970.1:p.Pro222Ala, NP_001275970.1:p.Pro222Thr, NP_001304089.1:p.Pro222Ala, NP_001304089.1:p.Pro222Thr, NP_001275968.1:p.Pro222Ala, NP_001275968.1:p.Pro222Thr, NP_001275969.1:p.Pro222Ala, NP_001275969.1:p.Pro222Thr, NP_001275966.1:p.Pro222Ala, NP_001275966.1:p.Pro222Thr, NP_001275967.1:p.Pro222Ala, NP_001275967.1:p.Pro222Thr, NP_001304085.1:p.Pro274Ala, NP_001304085.1:p.Pro274Thr, NP_001304087.1:p.Pro222Ala, NP_001304087.1:p.Pro222Thr

                                    18.

                                    rs1434620645 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      6:143941645 (GRCh38)
                                      6:144262782 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:143941644:G:A
                                      Gene:
                                      PLAGL1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      A=0.000004/1 (GnomAD_exomes)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (TOPMED)
                                      HGVS:
                                      NC_000006.12:g.143941645G>A, NC_000006.11:g.144262782G>A, NG_009384.2:g.127954C>T, NM_006718.5:c.1171C>T, NM_006718.4:c.1171C>T, NM_006718.3:c.1171C>T, NM_001080951.3:c.1171C>T, NM_001080951.2:c.1171C>T, NM_001080951.1:c.1171C>T, NM_001080952.3:c.1171C>T, NM_001080952.2:c.1171C>T, NM_001080952.1:c.1171C>T, NM_001080953.3:c.1171C>T, NM_001080953.2:c.1171C>T, NM_001080953.1:c.1171C>T, NM_001080954.3:c.1171C>T, NM_001080954.2:c.1171C>T, NM_001080954.1:c.1171C>T, NM_001080956.3:c.1015C>T, NM_001080956.2:c.1015C>T, NM_001080956.1:c.1015C>T, NM_001080955.3:c.1015C>T, NM_001080955.2:c.1015C>T, NM_001080955.1:c.1015C>T, NM_001317157.2:c.1171C>T, NM_001317157.1:c.1171C>T, NM_001289045.2:c.1171C>T, NM_001289045.1:c.1171C>T, NM_001289046.2:c.1171C>T, NM_001289046.1:c.1171C>T, NM_001317162.2:c.1171C>T, NM_001317162.1:c.1171C>T, NM_001317159.2:c.1171C>T, NM_001317159.1:c.1171C>T, NM_001317161.2:c.1171C>T, NM_001317161.1:c.1171C>T, NM_001289048.2:c.1171C>T, NM_001289048.1:c.1171C>T, NM_001289043.2:c.1171C>T, NM_001289043.1:c.1171C>T, NM_001289049.2:c.1171C>T, NM_001289049.1:c.1171C>T, NM_001289044.2:c.1171C>T, NM_001289044.1:c.1171C>T, NM_001289047.2:c.1171C>T, NM_001289047.1:c.1171C>T, NM_001289042.2:c.1171C>T, NM_001289042.1:c.1171C>T, NM_001289041.2:c.1015C>T, NM_001289041.1:c.1015C>T, NM_001317160.2:c.1015C>T, NM_001317160.1:c.1015C>T, NM_001289039.2:c.1015C>T, NM_001289039.1:c.1015C>T, NM_001289040.2:c.1015C>T, NM_001289040.1:c.1015C>T, NM_001289037.2:c.1015C>T, NM_001289037.1:c.1015C>T, NM_001289038.2:c.1015C>T, NM_001289038.1:c.1015C>T, NM_001317156.1:c.1171C>T, NM_001317158.1:c.1015C>T, NM_002656.3:c.1015C>T, NP_006709.2:p.Pro391Ser, NP_001074420.1:p.Pro391Ser, NP_001074421.1:p.Pro391Ser, NP_001074422.1:p.Pro391Ser, NP_001074423.1:p.Pro391Ser, NP_001074425.1:p.Pro339Ser, NP_001074424.1:p.Pro339Ser, NP_001304086.1:p.Pro391Ser, NP_001275974.1:p.Pro391Ser, NP_001275975.1:p.Pro391Ser, NP_001304091.1:p.Pro391Ser, NP_001304088.1:p.Pro391Ser, NP_001304090.1:p.Pro391Ser, NP_001275977.1:p.Pro391Ser, NP_001275972.1:p.Pro391Ser, NP_001275978.1:p.Pro391Ser, NP_001275973.1:p.Pro391Ser, NP_001275976.1:p.Pro391Ser, NP_001275971.1:p.Pro391Ser, NP_001275970.1:p.Pro339Ser, NP_001304089.1:p.Pro339Ser, NP_001275968.1:p.Pro339Ser, NP_001275969.1:p.Pro339Ser, NP_001275966.1:p.Pro339Ser, NP_001275967.1:p.Pro339Ser, NP_001304085.1:p.Pro391Ser, NP_001304087.1:p.Pro339Ser

                                      19.

                                      rs1430539656 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        AAAC>- [Show Flanks]
                                        Chromosome:
                                        6:143941827 (GRCh38)
                                        6:144262964 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:143941821:CAAACAAAC:CAAAC
                                        Gene:
                                        PLAGL1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CAAAC=0.000071/1 (ALFA)
                                        -=0.000004/1 (GnomAD_exomes)
                                        -=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000006.12:g.143941823AAAC[1], NC_000006.11:g.144262960AAAC[1], NG_009384.2:g.127770TTTG[1], NM_006718.5:c.991_994del, NM_006718.4:c.991_994del, NM_006718.3:c.991_994del, NM_001080951.3:c.991_994del, NM_001080951.2:c.991_994del, NM_001080951.1:c.991_994del, NM_001080952.3:c.991_994del, NM_001080952.2:c.991_994del, NM_001080952.1:c.991_994del, NM_001080953.3:c.991_994del, NM_001080953.2:c.991_994del, NM_001080953.1:c.991_994del, NM_001080954.3:c.991_994del, NM_001080954.2:c.991_994del, NM_001080954.1:c.991_994del, NM_001080956.3:c.835_838del, NM_001080956.2:c.835_838del, NM_001080956.1:c.835_838del, NM_001080955.3:c.835_838del, NM_001080955.2:c.835_838del, NM_001080955.1:c.835_838del, NM_001317157.2:c.991_994del, NM_001317157.1:c.991_994del, NM_001289045.2:c.991_994del, NM_001289045.1:c.991_994del, NM_001289046.2:c.991_994del, NM_001289046.1:c.991_994del, NM_001317162.2:c.991_994del, NM_001317162.1:c.991_994del, NM_001317159.2:c.991_994del, NM_001317159.1:c.991_994del, NM_001317161.2:c.991_994del, NM_001317161.1:c.991_994del, NM_001289048.2:c.991_994del, NM_001289048.1:c.991_994del, NM_001289043.2:c.991_994del, NM_001289043.1:c.991_994del, NM_001289049.2:c.991_994del, NM_001289049.1:c.991_994del, NM_001289044.2:c.991_994del, NM_001289044.1:c.991_994del, NM_001289047.2:c.991_994del, NM_001289047.1:c.991_994del, NM_001289042.2:c.991_994del, NM_001289042.1:c.991_994del, NM_001289041.2:c.835_838del, NM_001289041.1:c.835_838del, NM_001317160.2:c.835_838del, NM_001317160.1:c.835_838del, NM_001289039.2:c.835_838del, NM_001289039.1:c.835_838del, NM_001289040.2:c.835_838del, NM_001289040.1:c.835_838del, NM_001289037.2:c.835_838del, NM_001289037.1:c.835_838del, NM_001289038.2:c.835_838del, NM_001289038.1:c.835_838del, NM_001317156.1:c.991_994del, NM_001317158.1:c.835_838del, NM_002656.3:c.835_838del, NP_006709.2:p.Phe331fs, NP_001074420.1:p.Phe331fs, NP_001074421.1:p.Phe331fs, NP_001074422.1:p.Phe331fs, NP_001074423.1:p.Phe331fs, NP_001074425.1:p.Phe279fs, NP_001074424.1:p.Phe279fs, NP_001304086.1:p.Phe331fs, NP_001275974.1:p.Phe331fs, NP_001275975.1:p.Phe331fs, NP_001304091.1:p.Phe331fs, NP_001304088.1:p.Phe331fs, NP_001304090.1:p.Phe331fs, NP_001275977.1:p.Phe331fs, NP_001275972.1:p.Phe331fs, NP_001275978.1:p.Phe331fs, NP_001275973.1:p.Phe331fs, NP_001275976.1:p.Phe331fs, NP_001275971.1:p.Phe331fs, NP_001275970.1:p.Phe279fs, NP_001304089.1:p.Phe279fs, NP_001275968.1:p.Phe279fs, NP_001275969.1:p.Phe279fs, NP_001275966.1:p.Phe279fs, NP_001275967.1:p.Phe279fs, NP_001304085.1:p.Phe331fs, NP_001304087.1:p.Phe279fs

                                        20.

                                        rs1428360002 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:143942273 (GRCh38)
                                          6:144263410 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:143942272:G:A
                                          Gene:
                                          PLAGL1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.143942273G>A, NC_000006.11:g.144263410G>A, NG_009384.2:g.127326C>T, NM_006718.5:c.543C>T, NM_006718.4:c.543C>T, NM_006718.3:c.543C>T, NM_001080951.3:c.543C>T, NM_001080951.2:c.543C>T, NM_001080951.1:c.543C>T, NM_001080952.3:c.543C>T, NM_001080952.2:c.543C>T, NM_001080952.1:c.543C>T, NM_001080953.3:c.543C>T, NM_001080953.2:c.543C>T, NM_001080953.1:c.543C>T, NM_001080954.3:c.543C>T, NM_001080954.2:c.543C>T, NM_001080954.1:c.543C>T, NM_001080956.3:c.387C>T, NM_001080956.2:c.387C>T, NM_001080956.1:c.387C>T, NM_001080955.3:c.387C>T, NM_001080955.2:c.387C>T, NM_001080955.1:c.387C>T, NM_001317157.2:c.543C>T, NM_001317157.1:c.543C>T, NM_001289045.2:c.543C>T, NM_001289045.1:c.543C>T, NM_001289046.2:c.543C>T, NM_001289046.1:c.543C>T, NM_001317162.2:c.543C>T, NM_001317162.1:c.543C>T, NM_001317159.2:c.543C>T, NM_001317159.1:c.543C>T, NM_001317161.2:c.543C>T, NM_001317161.1:c.543C>T, NM_001289048.2:c.543C>T, NM_001289048.1:c.543C>T, NM_001289043.2:c.543C>T, NM_001289043.1:c.543C>T, NM_001289049.2:c.543C>T, NM_001289049.1:c.543C>T, NM_001289044.2:c.543C>T, NM_001289044.1:c.543C>T, NM_001289047.2:c.543C>T, NM_001289047.1:c.543C>T, NM_001289042.2:c.543C>T, NM_001289042.1:c.543C>T, NM_001289041.2:c.387C>T, NM_001289041.1:c.387C>T, NM_001317160.2:c.387C>T, NM_001317160.1:c.387C>T, NM_001289039.2:c.387C>T, NM_001289039.1:c.387C>T, NM_001289040.2:c.387C>T, NM_001289040.1:c.387C>T, NM_001289037.2:c.387C>T, NM_001289037.1:c.387C>T, NM_001289038.2:c.387C>T, NM_001289038.1:c.387C>T, NM_001317156.1:c.543C>T, NM_001317158.1:c.387C>T, NM_002656.3:c.387C>T

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