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Items: 1 to 20 of 437

1.

rs1490934402 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    18:46890765 (GRCh38)
    18:44470728 (GRCh37)
    Canonical SPDI:
    NC_000018.10:46890764:G:A
    Gene:
    PIAS2 (Varview)
    Functional Consequence:
    missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    A=0.000071/1 (ALFA)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000018.10:g.46890765G>A, NC_000018.9:g.44470728G>A, NG_029865.2:g.31768C>T, NM_004671.5:c.314C>T, NM_004671.4:c.314C>T, NM_004671.3:c.314C>T, NM_173206.4:c.314C>T, NM_173206.3:c.314C>T, NR_148703.2:n.674C>T, NR_148703.1:n.699C>T, NM_001324049.2:c.287C>T, NM_001324049.1:c.287C>T, NM_001354038.2:c.287C>T, NM_001354038.1:c.287C>T, NM_001354035.2:c.287C>T, NM_001354035.1:c.287C>T, NR_148701.2:n.585C>T, NR_148701.1:n.610C>T, NM_001354039.2:c.287C>T, NM_001354039.1:c.287C>T, NM_001324048.2:c.287C>T, NM_001324048.1:c.287C>T, NM_001324046.2:c.287C>T, NM_001324046.1:c.287C>T, NR_148700.2:n.476C>T, NR_148700.1:n.501C>T, NM_001324047.2:c.287C>T, NM_001324047.1:c.287C>T, NM_001354036.2:c.287C>T, NM_001354036.1:c.287C>T, NM_001354034.2:c.314C>T, NM_001354034.1:c.314C>T, NR_148702.2:n.476C>T, NR_148702.1:n.501C>T, NR_136684.2:n.476C>T, NR_136684.1:n.501C>T, NM_001324057.2:c.287C>T, NM_001324057.1:c.287C>T, NM_001324055.2:c.287C>T, NM_001324055.1:c.287C>T, NM_001324059.2:c.287C>T, NM_001324059.1:c.287C>T, NM_001354037.2:c.287C>T, NM_001354037.1:c.287C>T, NM_001324058.2:c.314C>T, NM_001324058.1:c.314C>T, NM_001324053.2:c.287C>T, NM_001324053.1:c.287C>T, NM_001324052.2:c.287C>T, NM_001324052.1:c.287C>T, NM_001354033.2:c.287C>T, NM_001354033.1:c.287C>T, NM_001324051.2:c.287C>T, NM_001324051.1:c.287C>T, NM_001324054.2:c.287C>T, NM_001324054.1:c.287C>T, NR_148699.2:n.476C>T, NR_148699.1:n.501C>T, NM_001324060.2:c.326C>T, NM_001324060.1:c.326C>T, XM_006722573.3:c.431C>T, XM_006722573.2:c.431C>T, XM_006722573.1:c.431C>T, NP_004662.2:p.Pro105Leu, NP_775298.1:p.Pro105Leu, NP_001310978.1:p.Pro96Leu, NP_001340967.1:p.Pro96Leu, NP_001340964.1:p.Pro96Leu, NP_001340968.1:p.Pro96Leu, NP_001310977.1:p.Pro96Leu, NP_001310975.1:p.Pro96Leu, NP_001310976.1:p.Pro96Leu, NP_001340965.1:p.Pro96Leu, NP_001340963.1:p.Pro105Leu, NP_001310986.1:p.Pro96Leu, NP_001310984.1:p.Pro96Leu, NP_001310988.1:p.Pro96Leu, NP_001340966.1:p.Pro96Leu, NP_001310987.1:p.Pro105Leu, NP_001310982.1:p.Pro96Leu, NP_001310981.1:p.Pro96Leu, NP_001340962.1:p.Pro96Leu, NP_001310980.1:p.Pro96Leu, NP_001310983.1:p.Pro96Leu, NP_001310989.1:p.Pro109Leu, XP_006722636.1:p.Pro144Leu

    2.

    rs1489534674 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->A [Show Flanks]
      Chromosome:
      18:46855586 (GRCh38)
      18:44435550 (GRCh37)
      Canonical SPDI:
      NC_000018.10:46855586:AA:AAA
      Gene:
      PIAS2 (Varview)
      Functional Consequence:
      frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      AAA=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      HGVS:
      NC_000018.10:g.46855588dup, NC_000018.9:g.44435551dup, NG_029865.2:g.66946dup, NM_004671.5:c.613dup, NM_004671.4:c.613dup, NM_004671.3:c.613dup, NM_173206.4:c.613dup, NM_173206.3:c.613dup, NR_148703.2:n.973dup, NR_148703.1:n.998dup, NM_001324049.2:c.586dup, NM_001324049.1:c.586dup, NM_001354038.2:c.586dup, NM_001354038.1:c.586dup, NM_001354035.2:c.586dup, NM_001354035.1:c.586dup, NR_148701.2:n.884dup, NR_148701.1:n.909dup, NM_001354039.2:c.586dup, NM_001354039.1:c.586dup, NM_001324048.2:c.586dup, NM_001324048.1:c.586dup, NM_001324046.2:c.586dup, NM_001324046.1:c.586dup, NR_148700.2:n.775dup, NR_148700.1:n.800dup, NM_001324047.2:c.586dup, NM_001324047.1:c.586dup, NM_001354036.2:c.586dup, NM_001354036.1:c.586dup, NM_001354034.2:c.613dup, NM_001354034.1:c.613dup, NR_148702.2:n.690dup, NR_148702.1:n.715dup, NR_136684.2:n.690dup, NR_136684.1:n.715dup, NM_001324057.2:c.586dup, NM_001324057.1:c.586dup, NM_001324055.2:c.586dup, NM_001324055.1:c.586dup, NM_001324059.2:c.586dup, NM_001324059.1:c.586dup, NM_001354037.2:c.586dup, NM_001354037.1:c.586dup, NM_001324058.2:c.613dup, NM_001324058.1:c.613dup, NM_001324053.2:c.586dup, NM_001324053.1:c.586dup, NM_001324052.2:c.586dup, NM_001324052.1:c.586dup, NM_001354033.2:c.586dup, NM_001354033.1:c.586dup, NM_001324051.2:c.586dup, NM_001324051.1:c.586dup, NM_001324054.2:c.586dup, NM_001324054.1:c.586dup, NR_148699.2:n.690dup, NR_148699.1:n.715dup, NR_136685.2:n.300dup, NR_136685.1:n.325dup, NM_001324060.2:c.625dup, NM_001324060.1:c.625dup, XM_006722573.3:c.730dup, XM_006722573.2:c.730dup, XM_006722573.1:c.730dup, NP_004662.2:p.Tyr205fs, NP_775298.1:p.Tyr205fs, NP_001310978.1:p.Tyr196fs, NP_001340967.1:p.Tyr196fs, NP_001340964.1:p.Tyr196fs, NP_001340968.1:p.Tyr196fs, NP_001310977.1:p.Tyr196fs, NP_001310975.1:p.Tyr196fs, NP_001310976.1:p.Tyr196fs, NP_001340965.1:p.Tyr196fs, NP_001340963.1:p.Tyr205fs, NP_001310986.1:p.Tyr196fs, NP_001310984.1:p.Tyr196fs, NP_001310988.1:p.Tyr196fs, NP_001340966.1:p.Tyr196fs, NP_001310987.1:p.Tyr205fs, NP_001310982.1:p.Tyr196fs, NP_001310981.1:p.Tyr196fs, NP_001340962.1:p.Tyr196fs, NP_001310980.1:p.Tyr196fs, NP_001310983.1:p.Tyr196fs, NP_001310989.1:p.Tyr209fs, XP_006722636.1:p.Tyr244fs

      3.

      rs1489176868 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C [Show Flanks]
        Chromosome:
        18:46891005 (GRCh38)
        18:44470968 (GRCh37)
        Canonical SPDI:
        NC_000018.10:46891004:A:C
        Gene:
        PIAS2 (Varview)
        Functional Consequence:
        missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000018.10:g.46891005A>C, NC_000018.9:g.44470968A>C, NG_029865.2:g.31528T>G, NM_004671.5:c.74T>G, NM_004671.4:c.74T>G, NM_004671.3:c.74T>G, NM_173206.4:c.74T>G, NM_173206.3:c.74T>G, NR_148703.2:n.434T>G, NR_148703.1:n.459T>G, NM_001324049.2:c.47T>G, NM_001324049.1:c.47T>G, NM_001354038.2:c.47T>G, NM_001354038.1:c.47T>G, NM_001354035.2:c.47T>G, NM_001354035.1:c.47T>G, NR_148701.2:n.345T>G, NR_148701.1:n.370T>G, NM_001354039.2:c.47T>G, NM_001354039.1:c.47T>G, NM_001324048.2:c.47T>G, NM_001324048.1:c.47T>G, NM_001324046.2:c.47T>G, NM_001324046.1:c.47T>G, NR_148700.2:n.236T>G, NR_148700.1:n.261T>G, NM_001324047.2:c.47T>G, NM_001324047.1:c.47T>G, NM_001354036.2:c.47T>G, NM_001354036.1:c.47T>G, NM_001354034.2:c.74T>G, NM_001354034.1:c.74T>G, NR_148702.2:n.236T>G, NR_148702.1:n.261T>G, NR_136684.2:n.236T>G, NR_136684.1:n.261T>G, NM_001324057.2:c.47T>G, NM_001324057.1:c.47T>G, NM_001324055.2:c.47T>G, NM_001324055.1:c.47T>G, NM_001324059.2:c.47T>G, NM_001324059.1:c.47T>G, NM_001354037.2:c.47T>G, NM_001354037.1:c.47T>G, NM_001324058.2:c.74T>G, NM_001324058.1:c.74T>G, NM_001324053.2:c.47T>G, NM_001324053.1:c.47T>G, NM_001324052.2:c.47T>G, NM_001324052.1:c.47T>G, NM_001354033.2:c.47T>G, NM_001354033.1:c.47T>G, NM_001324051.2:c.47T>G, NM_001324051.1:c.47T>G, NM_001324054.2:c.47T>G, NM_001324054.1:c.47T>G, NR_148699.2:n.236T>G, NR_148699.1:n.261T>G, NM_001324060.2:c.86T>G, NM_001324060.1:c.86T>G, XM_006722573.3:c.191T>G, XM_006722573.2:c.191T>G, XM_006722573.1:c.191T>G, NP_004662.2:p.Phe25Cys, NP_775298.1:p.Phe25Cys, NP_001310978.1:p.Phe16Cys, NP_001340967.1:p.Phe16Cys, NP_001340964.1:p.Phe16Cys, NP_001340968.1:p.Phe16Cys, NP_001310977.1:p.Phe16Cys, NP_001310975.1:p.Phe16Cys, NP_001310976.1:p.Phe16Cys, NP_001340965.1:p.Phe16Cys, NP_001340963.1:p.Phe25Cys, NP_001310986.1:p.Phe16Cys, NP_001310984.1:p.Phe16Cys, NP_001310988.1:p.Phe16Cys, NP_001340966.1:p.Phe16Cys, NP_001310987.1:p.Phe25Cys, NP_001310982.1:p.Phe16Cys, NP_001310981.1:p.Phe16Cys, NP_001340962.1:p.Phe16Cys, NP_001310980.1:p.Phe16Cys, NP_001310983.1:p.Phe16Cys, NP_001310989.1:p.Phe29Cys, XP_006722636.1:p.Phe64Cys

        4.

        rs1487172337 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          18:46820989 (GRCh38)
          18:44400952 (GRCh37)
          Canonical SPDI:
          NC_000018.10:46820988:T:C
          Gene:
          PIAS2 (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000018.10:g.46820989T>C, NC_000018.9:g.44400952T>C, NG_029865.2:g.101544A>G, NM_004671.5:c.1592A>G, NM_004671.4:c.1592A>G, NM_004671.3:c.1592A>G, NM_173206.4:c.1592A>G, NM_173206.3:c.1592A>G, NR_148703.2:n.1952A>G, NR_148703.1:n.1977A>G, NM_001324049.2:c.1565A>G, NM_001324049.1:c.1565A>G, NM_001354038.2:c.1565A>G, NM_001354038.1:c.1565A>G, NM_001354035.2:c.1565A>G, NM_001354035.1:c.1565A>G, NR_148701.2:n.1863A>G, NR_148701.1:n.1888A>G, NM_001354039.2:c.1565A>G, NM_001354039.1:c.1565A>G, NM_001324048.2:c.1565A>G, NM_001324048.1:c.1565A>G, NM_001324046.2:c.1565A>G, NM_001324046.1:c.1565A>G, NR_148700.2:n.1754A>G, NR_148700.1:n.1779A>G, NM_001324047.2:c.1565A>G, NM_001324047.1:c.1565A>G, NM_001354036.2:c.1565A>G, NM_001354036.1:c.1565A>G, NM_001354034.2:c.1592A>G, NM_001354034.1:c.1592A>G, NR_148702.2:n.1669A>G, NR_148702.1:n.1694A>G, NR_136684.2:n.1669A>G, NR_136684.1:n.1694A>G, NM_001324053.2:c.1565A>G, NM_001324053.1:c.1565A>G, NM_001324052.2:c.1565A>G, NM_001324052.1:c.1565A>G, NM_001354033.2:c.1565A>G, NM_001354033.1:c.1565A>G, NM_001324051.2:c.1565A>G, NM_001324051.1:c.1565A>G, NM_001324054.2:c.1565A>G, NM_001324054.1:c.1565A>G, NR_148699.2:n.1669A>G, NR_148699.1:n.1694A>G, NR_136685.2:n.1279A>G, NR_136685.1:n.1304A>G, XM_006722573.3:c.1709A>G, XM_006722573.2:c.1709A>G, XM_006722573.1:c.1709A>G, NP_004662.2:p.Asp531Gly, NP_775298.1:p.Asp531Gly, NP_001310978.1:p.Asp522Gly, NP_001340967.1:p.Asp522Gly, NP_001340964.1:p.Asp522Gly, NP_001340968.1:p.Asp522Gly, NP_001310977.1:p.Asp522Gly, NP_001310975.1:p.Asp522Gly, NP_001310976.1:p.Asp522Gly, NP_001340965.1:p.Asp522Gly, NP_001340963.1:p.Asp531Gly, NP_001310982.1:p.Asp522Gly, NP_001310981.1:p.Asp522Gly, NP_001340962.1:p.Asp522Gly, NP_001310980.1:p.Asp522Gly, NP_001310983.1:p.Asp522Gly, XP_006722636.1:p.Asp570Gly

          5.

          rs1485771824 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            18:46855403 (GRCh38)
            18:44435366 (GRCh37)
            Canonical SPDI:
            NC_000018.10:46855402:T:C
            Gene:
            PIAS2 (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000008/2 (TOPMED)
            C=0.000014/2 (GnomAD)
            HGVS:
            NC_000018.10:g.46855403T>C, NC_000018.9:g.44435366T>C, NG_029865.2:g.67130A>G, NM_004671.5:c.668A>G, NM_004671.4:c.668A>G, NM_004671.3:c.668A>G, NM_173206.4:c.668A>G, NM_173206.3:c.668A>G, NR_148703.2:n.1028A>G, NR_148703.1:n.1053A>G, NM_001324049.2:c.641A>G, NM_001324049.1:c.641A>G, NM_001354038.2:c.641A>G, NM_001354038.1:c.641A>G, NM_001354035.2:c.641A>G, NM_001354035.1:c.641A>G, NR_148701.2:n.939A>G, NR_148701.1:n.964A>G, NM_001354039.2:c.641A>G, NM_001354039.1:c.641A>G, NM_001324048.2:c.641A>G, NM_001324048.1:c.641A>G, NM_001324046.2:c.641A>G, NM_001324046.1:c.641A>G, NR_148700.2:n.830A>G, NR_148700.1:n.855A>G, NM_001324047.2:c.641A>G, NM_001324047.1:c.641A>G, NM_001354036.2:c.641A>G, NM_001354036.1:c.641A>G, NM_001354034.2:c.668A>G, NM_001354034.1:c.668A>G, NR_148702.2:n.745A>G, NR_148702.1:n.770A>G, NR_136684.2:n.745A>G, NR_136684.1:n.770A>G, NM_001324057.2:c.641A>G, NM_001324057.1:c.641A>G, NM_001324055.2:c.641A>G, NM_001324055.1:c.641A>G, NM_001324059.2:c.641A>G, NM_001324059.1:c.641A>G, NM_001354037.2:c.641A>G, NM_001354037.1:c.641A>G, NM_001324058.2:c.668A>G, NM_001324058.1:c.668A>G, NM_001324053.2:c.641A>G, NM_001324053.1:c.641A>G, NM_001324052.2:c.641A>G, NM_001324052.1:c.641A>G, NM_001354033.2:c.641A>G, NM_001354033.1:c.641A>G, NM_001324051.2:c.641A>G, NM_001324051.1:c.641A>G, NM_001324054.2:c.641A>G, NM_001324054.1:c.641A>G, NR_148699.2:n.745A>G, NR_148699.1:n.770A>G, NR_136685.2:n.355A>G, NR_136685.1:n.380A>G, NM_001324060.2:c.680A>G, NM_001324060.1:c.680A>G, XM_006722573.3:c.785A>G, XM_006722573.2:c.785A>G, XM_006722573.1:c.785A>G, NP_004662.2:p.Glu223Gly, NP_775298.1:p.Glu223Gly, NP_001310978.1:p.Glu214Gly, NP_001340967.1:p.Glu214Gly, NP_001340964.1:p.Glu214Gly, NP_001340968.1:p.Glu214Gly, NP_001310977.1:p.Glu214Gly, NP_001310975.1:p.Glu214Gly, NP_001310976.1:p.Glu214Gly, NP_001340965.1:p.Glu214Gly, NP_001340963.1:p.Glu223Gly, NP_001310986.1:p.Glu214Gly, NP_001310984.1:p.Glu214Gly, NP_001310988.1:p.Glu214Gly, NP_001340966.1:p.Glu214Gly, NP_001310987.1:p.Glu223Gly, NP_001310982.1:p.Glu214Gly, NP_001310981.1:p.Glu214Gly, NP_001340962.1:p.Glu214Gly, NP_001310980.1:p.Glu214Gly, NP_001310983.1:p.Glu214Gly, NP_001310989.1:p.Glu227Gly, XP_006722636.1:p.Glu262Gly

            6.

            rs1482805012 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              18:46836471 (GRCh38)
              18:44416434 (GRCh37)
              Canonical SPDI:
              NC_000018.10:46836470:G:A
              Gene:
              PIAS2 (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000015/4 (TOPMED)
              HGVS:
              NC_000018.10:g.46836471G>A, NC_000018.9:g.44416434G>A, NG_029865.2:g.86062C>T, NM_004671.5:c.1088C>T, NM_004671.4:c.1088C>T, NM_004671.3:c.1088C>T, NM_173206.4:c.1088C>T, NM_173206.3:c.1088C>T, NR_148703.2:n.1448C>T, NR_148703.1:n.1473C>T, NM_001324049.2:c.1061C>T, NM_001324049.1:c.1061C>T, NM_001354038.2:c.1061C>T, NM_001354038.1:c.1061C>T, NM_001354035.2:c.1061C>T, NM_001354035.1:c.1061C>T, NR_148701.2:n.1359C>T, NR_148701.1:n.1384C>T, NM_001354039.2:c.1061C>T, NM_001354039.1:c.1061C>T, NM_001324048.2:c.1061C>T, NM_001324048.1:c.1061C>T, NM_001324046.2:c.1061C>T, NM_001324046.1:c.1061C>T, NR_148700.2:n.1250C>T, NR_148700.1:n.1275C>T, NM_001324047.2:c.1061C>T, NM_001324047.1:c.1061C>T, NM_001354036.2:c.1061C>T, NM_001354036.1:c.1061C>T, NM_001354034.2:c.1088C>T, NM_001354034.1:c.1088C>T, NR_148702.2:n.1165C>T, NR_148702.1:n.1190C>T, NR_136684.2:n.1165C>T, NR_136684.1:n.1190C>T, NM_001324057.2:c.1061C>T, NM_001324057.1:c.1061C>T, NM_001324055.2:c.1061C>T, NM_001324055.1:c.1061C>T, NM_001324059.2:c.1061C>T, NM_001324059.1:c.1061C>T, NM_001354037.2:c.1061C>T, NM_001354037.1:c.1061C>T, NM_001324058.2:c.1088C>T, NM_001324058.1:c.1088C>T, NM_001324053.2:c.1061C>T, NM_001324053.1:c.1061C>T, NM_001324052.2:c.1061C>T, NM_001324052.1:c.1061C>T, NM_001354033.2:c.1061C>T, NM_001354033.1:c.1061C>T, NM_001324051.2:c.1061C>T, NM_001324051.1:c.1061C>T, NM_001324054.2:c.1061C>T, NM_001324054.1:c.1061C>T, NR_148699.2:n.1165C>T, NR_148699.1:n.1190C>T, NR_136685.2:n.775C>T, NR_136685.1:n.800C>T, NM_001324060.2:c.1100C>T, NM_001324060.1:c.1100C>T, XM_006722573.3:c.1205C>T, XM_006722573.2:c.1205C>T, XM_006722573.1:c.1205C>T, NP_004662.2:p.Thr363Ile, NP_775298.1:p.Thr363Ile, NP_001310978.1:p.Thr354Ile, NP_001340967.1:p.Thr354Ile, NP_001340964.1:p.Thr354Ile, NP_001340968.1:p.Thr354Ile, NP_001310977.1:p.Thr354Ile, NP_001310975.1:p.Thr354Ile, NP_001310976.1:p.Thr354Ile, NP_001340965.1:p.Thr354Ile, NP_001340963.1:p.Thr363Ile, NP_001310986.1:p.Thr354Ile, NP_001310984.1:p.Thr354Ile, NP_001310988.1:p.Thr354Ile, NP_001340966.1:p.Thr354Ile, NP_001310987.1:p.Thr363Ile, NP_001310982.1:p.Thr354Ile, NP_001310981.1:p.Thr354Ile, NP_001340962.1:p.Thr354Ile, NP_001310980.1:p.Thr354Ile, NP_001310983.1:p.Thr354Ile, NP_001310989.1:p.Thr367Ile, XP_006722636.1:p.Thr402Ile

              7.

              rs1482139050 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C [Show Flanks]
                Chromosome:
                18:46828010 (GRCh38)
                18:44407973 (GRCh37)
                Canonical SPDI:
                NC_000018.10:46828009:G:A,NC_000018.10:46828009:G:C
                Gene:
                PIAS2 (Varview)
                Functional Consequence:
                missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by cluster
                MAF:
                C=0.000004/1 (GnomAD_exomes)
                A=0.000035/1 (TOMMO)
                HGVS:
                NC_000018.10:g.46828010G>A, NC_000018.10:g.46828010G>C, NC_000018.9:g.44407973G>A, NC_000018.9:g.44407973G>C, NG_029865.2:g.94523C>T, NG_029865.2:g.94523C>G, NM_004671.5:c.1457C>T, NM_004671.5:c.1457C>G, NM_004671.4:c.1457C>T, NM_004671.4:c.1457C>G, NM_004671.3:c.1457C>T, NM_004671.3:c.1457C>G, NM_173206.4:c.1457C>T, NM_173206.4:c.1457C>G, NM_173206.3:c.1457C>T, NM_173206.3:c.1457C>G, NR_148703.2:n.1817C>T, NR_148703.2:n.1817C>G, NR_148703.1:n.1842C>T, NR_148703.1:n.1842C>G, NM_001324049.2:c.1430C>T, NM_001324049.2:c.1430C>G, NM_001324049.1:c.1430C>T, NM_001324049.1:c.1430C>G, NM_001354038.2:c.1430C>T, NM_001354038.2:c.1430C>G, NM_001354038.1:c.1430C>T, NM_001354038.1:c.1430C>G, NM_001354035.2:c.1430C>T, NM_001354035.2:c.1430C>G, NM_001354035.1:c.1430C>T, NM_001354035.1:c.1430C>G, NR_148701.2:n.1728C>T, NR_148701.2:n.1728C>G, NR_148701.1:n.1753C>T, NR_148701.1:n.1753C>G, NM_001354039.2:c.1430C>T, NM_001354039.2:c.1430C>G, NM_001354039.1:c.1430C>T, NM_001354039.1:c.1430C>G, NM_001324048.2:c.1430C>T, NM_001324048.2:c.1430C>G, NM_001324048.1:c.1430C>T, NM_001324048.1:c.1430C>G, NM_001324046.2:c.1430C>T, NM_001324046.2:c.1430C>G, NM_001324046.1:c.1430C>T, NM_001324046.1:c.1430C>G, NR_148700.2:n.1619C>T, NR_148700.2:n.1619C>G, NR_148700.1:n.1644C>T, NR_148700.1:n.1644C>G, NM_001324047.2:c.1430C>T, NM_001324047.2:c.1430C>G, NM_001324047.1:c.1430C>T, NM_001324047.1:c.1430C>G, NM_001354036.2:c.1430C>T, NM_001354036.2:c.1430C>G, NM_001354036.1:c.1430C>T, NM_001354036.1:c.1430C>G, NM_001354034.2:c.1457C>T, NM_001354034.2:c.1457C>G, NM_001354034.1:c.1457C>T, NM_001354034.1:c.1457C>G, NR_148702.2:n.1534C>T, NR_148702.2:n.1534C>G, NR_148702.1:n.1559C>T, NR_148702.1:n.1559C>G, NR_136684.2:n.1534C>T, NR_136684.2:n.1534C>G, NR_136684.1:n.1559C>T, NR_136684.1:n.1559C>G, NM_001324057.2:c.1430C>T, NM_001324057.2:c.1430C>G, NM_001324057.1:c.1430C>T, NM_001324057.1:c.1430C>G, NM_001324055.2:c.1430C>T, NM_001324055.2:c.1430C>G, NM_001324055.1:c.1430C>T, NM_001324055.1:c.1430C>G, NM_001324059.2:c.1430C>T, NM_001324059.2:c.1430C>G, NM_001324059.1:c.1430C>T, NM_001324059.1:c.1430C>G, NM_001354037.2:c.1430C>T, NM_001354037.2:c.1430C>G, NM_001354037.1:c.1430C>T, NM_001354037.1:c.1430C>G, NM_001324058.2:c.1457C>T, NM_001324058.2:c.1457C>G, NM_001324058.1:c.1457C>T, NM_001324058.1:c.1457C>G, NM_001324053.2:c.1430C>T, NM_001324053.2:c.1430C>G, NM_001324053.1:c.1430C>T, NM_001324053.1:c.1430C>G, NM_001324052.2:c.1430C>T, NM_001324052.2:c.1430C>G, NM_001324052.1:c.1430C>T, NM_001324052.1:c.1430C>G, NM_001354033.2:c.1430C>T, NM_001354033.2:c.1430C>G, NM_001354033.1:c.1430C>T, NM_001354033.1:c.1430C>G, NM_001324051.2:c.1430C>T, NM_001324051.2:c.1430C>G, NM_001324051.1:c.1430C>T, NM_001324051.1:c.1430C>G, NM_001324054.2:c.1430C>T, NM_001324054.2:c.1430C>G, NM_001324054.1:c.1430C>T, NM_001324054.1:c.1430C>G, NR_148699.2:n.1534C>T, NR_148699.2:n.1534C>G, NR_148699.1:n.1559C>T, NR_148699.1:n.1559C>G, NR_136685.2:n.1144C>T, NR_136685.2:n.1144C>G, NR_136685.1:n.1169C>T, NR_136685.1:n.1169C>G, XM_006722573.3:c.1574C>T, XM_006722573.3:c.1574C>G, XM_006722573.2:c.1574C>T, XM_006722573.2:c.1574C>G, XM_006722573.1:c.1574C>T, XM_006722573.1:c.1574C>G, NP_004662.2:p.Ala486Val, NP_004662.2:p.Ala486Gly, NP_775298.1:p.Ala486Val, NP_775298.1:p.Ala486Gly, NP_001310978.1:p.Ala477Val, NP_001310978.1:p.Ala477Gly, NP_001340967.1:p.Ala477Val, NP_001340967.1:p.Ala477Gly, NP_001340964.1:p.Ala477Val, NP_001340964.1:p.Ala477Gly, NP_001340968.1:p.Ala477Val, NP_001340968.1:p.Ala477Gly, NP_001310977.1:p.Ala477Val, NP_001310977.1:p.Ala477Gly, NP_001310975.1:p.Ala477Val, NP_001310975.1:p.Ala477Gly, NP_001310976.1:p.Ala477Val, NP_001310976.1:p.Ala477Gly, NP_001340965.1:p.Ala477Val, NP_001340965.1:p.Ala477Gly, NP_001340963.1:p.Ala486Val, NP_001340963.1:p.Ala486Gly, NP_001310986.1:p.Ala477Val, NP_001310986.1:p.Ala477Gly, NP_001310984.1:p.Ala477Val, NP_001310984.1:p.Ala477Gly, NP_001310988.1:p.Ala477Val, NP_001310988.1:p.Ala477Gly, NP_001340966.1:p.Ala477Val, NP_001340966.1:p.Ala477Gly, NP_001310987.1:p.Ala486Val, NP_001310987.1:p.Ala486Gly, NP_001310982.1:p.Ala477Val, NP_001310982.1:p.Ala477Gly, NP_001310981.1:p.Ala477Val, NP_001310981.1:p.Ala477Gly, NP_001340962.1:p.Ala477Val, NP_001340962.1:p.Ala477Gly, NP_001310980.1:p.Ala477Val, NP_001310980.1:p.Ala477Gly, NP_001310983.1:p.Ala477Val, NP_001310983.1:p.Ala477Gly, XP_006722636.1:p.Ala525Val, XP_006722636.1:p.Ala525Gly

                8.

                rs1476730777 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  18:46821052 (GRCh38)
                  18:44401015 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:46821051:G:A
                  Gene:
                  PIAS2 (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000071/1 (ALFA)
                  A=0.000021/3 (GnomAD)
                  A=0.000023/6 (TOPMED)
                  HGVS:
                  NC_000018.10:g.46821052G>A, NC_000018.9:g.44401015G>A, NG_029865.2:g.101481C>T, NM_004671.5:c.1529C>T, NM_004671.4:c.1529C>T, NM_004671.3:c.1529C>T, NM_173206.4:c.1529C>T, NM_173206.3:c.1529C>T, NR_148703.2:n.1889C>T, NR_148703.1:n.1914C>T, NM_001324049.2:c.1502C>T, NM_001324049.1:c.1502C>T, NM_001354038.2:c.1502C>T, NM_001354038.1:c.1502C>T, NM_001354035.2:c.1502C>T, NM_001354035.1:c.1502C>T, NR_148701.2:n.1800C>T, NR_148701.1:n.1825C>T, NM_001354039.2:c.1502C>T, NM_001354039.1:c.1502C>T, NM_001324048.2:c.1502C>T, NM_001324048.1:c.1502C>T, NM_001324046.2:c.1502C>T, NM_001324046.1:c.1502C>T, NR_148700.2:n.1691C>T, NR_148700.1:n.1716C>T, NM_001324047.2:c.1502C>T, NM_001324047.1:c.1502C>T, NM_001354036.2:c.1502C>T, NM_001354036.1:c.1502C>T, NM_001354034.2:c.1529C>T, NM_001354034.1:c.1529C>T, NR_148702.2:n.1606C>T, NR_148702.1:n.1631C>T, NR_136684.2:n.1606C>T, NR_136684.1:n.1631C>T, NM_001324053.2:c.1502C>T, NM_001324053.1:c.1502C>T, NM_001324052.2:c.1502C>T, NM_001324052.1:c.1502C>T, NM_001354033.2:c.1502C>T, NM_001354033.1:c.1502C>T, NM_001324051.2:c.1502C>T, NM_001324051.1:c.1502C>T, NM_001324054.2:c.1502C>T, NM_001324054.1:c.1502C>T, NR_148699.2:n.1606C>T, NR_148699.1:n.1631C>T, NR_136685.2:n.1216C>T, NR_136685.1:n.1241C>T, XM_006722573.3:c.1646C>T, XM_006722573.2:c.1646C>T, XM_006722573.1:c.1646C>T, NP_004662.2:p.Ser510Phe, NP_775298.1:p.Ser510Phe, NP_001310978.1:p.Ser501Phe, NP_001340967.1:p.Ser501Phe, NP_001340964.1:p.Ser501Phe, NP_001340968.1:p.Ser501Phe, NP_001310977.1:p.Ser501Phe, NP_001310975.1:p.Ser501Phe, NP_001310976.1:p.Ser501Phe, NP_001340965.1:p.Ser501Phe, NP_001340963.1:p.Ser510Phe, NP_001310982.1:p.Ser501Phe, NP_001310981.1:p.Ser501Phe, NP_001340962.1:p.Ser501Phe, NP_001310980.1:p.Ser501Phe, NP_001310983.1:p.Ser501Phe, XP_006722636.1:p.Ser549Phe

                  9.

                  rs1472124182 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    18:46821017 (GRCh38)
                    18:44400980 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:46821016:G:A,NC_000018.10:46821016:G:C
                    Gene:
                    PIAS2 (Varview)
                    Functional Consequence:
                    missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    A=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000018.10:g.46821017G>A, NC_000018.10:g.46821017G>C, NC_000018.9:g.44400980G>A, NC_000018.9:g.44400980G>C, NG_029865.2:g.101516C>T, NG_029865.2:g.101516C>G, NM_004671.5:c.1564C>T, NM_004671.5:c.1564C>G, NM_004671.4:c.1564C>T, NM_004671.4:c.1564C>G, NM_004671.3:c.1564C>T, NM_004671.3:c.1564C>G, NM_173206.4:c.1564C>T, NM_173206.4:c.1564C>G, NM_173206.3:c.1564C>T, NM_173206.3:c.1564C>G, NR_148703.2:n.1924C>T, NR_148703.2:n.1924C>G, NR_148703.1:n.1949C>T, NR_148703.1:n.1949C>G, NM_001324049.2:c.1537C>T, NM_001324049.2:c.1537C>G, NM_001324049.1:c.1537C>T, NM_001324049.1:c.1537C>G, NM_001354038.2:c.1537C>T, NM_001354038.2:c.1537C>G, NM_001354038.1:c.1537C>T, NM_001354038.1:c.1537C>G, NM_001354035.2:c.1537C>T, NM_001354035.2:c.1537C>G, NM_001354035.1:c.1537C>T, NM_001354035.1:c.1537C>G, NR_148701.2:n.1835C>T, NR_148701.2:n.1835C>G, NR_148701.1:n.1860C>T, NR_148701.1:n.1860C>G, NM_001354039.2:c.1537C>T, NM_001354039.2:c.1537C>G, NM_001354039.1:c.1537C>T, NM_001354039.1:c.1537C>G, NM_001324048.2:c.1537C>T, NM_001324048.2:c.1537C>G, NM_001324048.1:c.1537C>T, NM_001324048.1:c.1537C>G, NM_001324046.2:c.1537C>T, NM_001324046.2:c.1537C>G, NM_001324046.1:c.1537C>T, NM_001324046.1:c.1537C>G, NR_148700.2:n.1726C>T, NR_148700.2:n.1726C>G, NR_148700.1:n.1751C>T, NR_148700.1:n.1751C>G, NM_001324047.2:c.1537C>T, NM_001324047.2:c.1537C>G, NM_001324047.1:c.1537C>T, NM_001324047.1:c.1537C>G, NM_001354036.2:c.1537C>T, NM_001354036.2:c.1537C>G, NM_001354036.1:c.1537C>T, NM_001354036.1:c.1537C>G, NM_001354034.2:c.1564C>T, NM_001354034.2:c.1564C>G, NM_001354034.1:c.1564C>T, NM_001354034.1:c.1564C>G, NR_148702.2:n.1641C>T, NR_148702.2:n.1641C>G, NR_148702.1:n.1666C>T, NR_148702.1:n.1666C>G, NR_136684.2:n.1641C>T, NR_136684.2:n.1641C>G, NR_136684.1:n.1666C>T, NR_136684.1:n.1666C>G, NM_001324053.2:c.1537C>T, NM_001324053.2:c.1537C>G, NM_001324053.1:c.1537C>T, NM_001324053.1:c.1537C>G, NM_001324052.2:c.1537C>T, NM_001324052.2:c.1537C>G, NM_001324052.1:c.1537C>T, NM_001324052.1:c.1537C>G, NM_001354033.2:c.1537C>T, NM_001354033.2:c.1537C>G, NM_001354033.1:c.1537C>T, NM_001354033.1:c.1537C>G, NM_001324051.2:c.1537C>T, NM_001324051.2:c.1537C>G, NM_001324051.1:c.1537C>T, NM_001324051.1:c.1537C>G, NM_001324054.2:c.1537C>T, NM_001324054.2:c.1537C>G, NM_001324054.1:c.1537C>T, NM_001324054.1:c.1537C>G, NR_148699.2:n.1641C>T, NR_148699.2:n.1641C>G, NR_148699.1:n.1666C>T, NR_148699.1:n.1666C>G, NR_136685.2:n.1251C>T, NR_136685.2:n.1251C>G, NR_136685.1:n.1276C>T, NR_136685.1:n.1276C>G, XM_006722573.3:c.1681C>T, XM_006722573.3:c.1681C>G, XM_006722573.2:c.1681C>T, XM_006722573.2:c.1681C>G, XM_006722573.1:c.1681C>T, XM_006722573.1:c.1681C>G, NP_004662.2:p.Pro522Ser, NP_004662.2:p.Pro522Ala, NP_775298.1:p.Pro522Ser, NP_775298.1:p.Pro522Ala, NP_001310978.1:p.Pro513Ser, NP_001310978.1:p.Pro513Ala, NP_001340967.1:p.Pro513Ser, NP_001340967.1:p.Pro513Ala, NP_001340964.1:p.Pro513Ser, NP_001340964.1:p.Pro513Ala, NP_001340968.1:p.Pro513Ser, NP_001340968.1:p.Pro513Ala, NP_001310977.1:p.Pro513Ser, NP_001310977.1:p.Pro513Ala, NP_001310975.1:p.Pro513Ser, NP_001310975.1:p.Pro513Ala, NP_001310976.1:p.Pro513Ser, NP_001310976.1:p.Pro513Ala, NP_001340965.1:p.Pro513Ser, NP_001340965.1:p.Pro513Ala, NP_001340963.1:p.Pro522Ser, NP_001340963.1:p.Pro522Ala, NP_001310982.1:p.Pro513Ser, NP_001310982.1:p.Pro513Ala, NP_001310981.1:p.Pro513Ser, NP_001310981.1:p.Pro513Ala, NP_001340962.1:p.Pro513Ser, NP_001340962.1:p.Pro513Ala, NP_001310980.1:p.Pro513Ser, NP_001310980.1:p.Pro513Ala, NP_001310983.1:p.Pro513Ser, NP_001310983.1:p.Pro513Ala, XP_006722636.1:p.Pro561Ser, XP_006722636.1:p.Pro561Ala

                    10.

                    rs1471194955 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      18:46844069 (GRCh38)
                      18:44424032 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:46844068:T:C
                      Gene:
                      PIAS2 (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
                      Validated:
                      by frequency
                      MAF:
                      C=0.000005/1 (GnomAD_exomes)
                      HGVS:
                      NC_000018.10:g.46844069T>C, NC_000018.9:g.44424032T>C, NG_029865.2:g.78464A>G, NM_004671.5:c.1026A>G, NM_004671.4:c.1026A>G, NM_004671.3:c.1026A>G, NM_173206.4:c.1026A>G, NM_173206.3:c.1026A>G, NR_148703.2:n.1386A>G, NR_148703.1:n.1411A>G, NM_001324049.2:c.999A>G, NM_001324049.1:c.999A>G, NM_001354038.2:c.999A>G, NM_001354038.1:c.999A>G, NM_001354035.2:c.999A>G, NM_001354035.1:c.999A>G, NR_148701.2:n.1297A>G, NR_148701.1:n.1322A>G, NM_001354039.2:c.999A>G, NM_001354039.1:c.999A>G, NM_001324048.2:c.999A>G, NM_001324048.1:c.999A>G, NM_001324046.2:c.999A>G, NM_001324046.1:c.999A>G, NR_148700.2:n.1188A>G, NR_148700.1:n.1213A>G, NM_001324047.2:c.999A>G, NM_001324047.1:c.999A>G, NM_001354036.2:c.999A>G, NM_001354036.1:c.999A>G, NM_001354034.2:c.1026A>G, NM_001354034.1:c.1026A>G, NR_148702.2:n.1103A>G, NR_148702.1:n.1128A>G, NR_136684.2:n.1103A>G, NR_136684.1:n.1128A>G, NM_001324057.2:c.999A>G, NM_001324057.1:c.999A>G, NM_001324055.2:c.999A>G, NM_001324055.1:c.999A>G, NM_001324059.2:c.999A>G, NM_001324059.1:c.999A>G, NM_001354037.2:c.999A>G, NM_001354037.1:c.999A>G, NM_001324058.2:c.1026A>G, NM_001324058.1:c.1026A>G, NM_001324053.2:c.999A>G, NM_001324053.1:c.999A>G, NM_001324052.2:c.999A>G, NM_001324052.1:c.999A>G, NM_001354033.2:c.999A>G, NM_001354033.1:c.999A>G, NM_001324051.2:c.999A>G, NM_001324051.1:c.999A>G, NM_001324054.2:c.999A>G, NM_001324054.1:c.999A>G, NR_148699.2:n.1103A>G, NR_148699.1:n.1128A>G, NR_136685.2:n.713A>G, NR_136685.1:n.738A>G, NM_001324060.2:c.1038A>G, NM_001324060.1:c.1038A>G, XM_006722573.3:c.1143A>G, XM_006722573.2:c.1143A>G, XM_006722573.1:c.1143A>G

                      11.

                      rs1470804302 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        CAAGCTTCAGTTC>- [Show Flanks]
                        Chromosome:
                        18:46818406 (GRCh38)
                        18:44398369 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:46818401:GTTCCAAGCTTCAGTTC:GTTC
                        Gene:
                        PIAS2 (Varview)
                        Functional Consequence:
                        frameshift_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000018.10:g.46818406_46818418del, NC_000018.9:g.44398369_44398381del, NG_029865.2:g.104119_104131del, NM_173206.4:c.1682_1694del, NM_173206.3:c.1682_1694del, NR_148703.2:n.2042_2054del, NR_148703.1:n.2067_2079del, NR_148701.2:n.1953_1965del, NR_148701.1:n.1978_1990del, NR_148700.2:n.1844_1856del, NR_148700.1:n.1869_1881del, NM_001324053.2:c.1655_1667del, NM_001324053.1:c.1655_1667del, NM_001324052.2:c.1655_1667del, NM_001324052.1:c.1655_1667del, NM_001354033.2:c.1655_1667del, NM_001354033.1:c.1655_1667del, NM_001324051.2:c.1655_1667del, NM_001324051.1:c.1655_1667del, NM_001324054.2:c.1655_1667del, NM_001324054.1:c.1655_1667del, NR_148699.2:n.1759_1771del, NR_148699.1:n.1784_1796del, NR_136685.2:n.1369_1381del, NR_136685.1:n.1394_1406del, XM_006722573.3:c.1799_1811del, XM_006722573.2:c.1799_1811del, XM_006722573.1:c.1799_1811del, NP_775298.1:p.Leu561fs, NP_001310982.1:p.Leu552fs, NP_001310981.1:p.Leu552fs, NP_001340962.1:p.Leu552fs, NP_001310980.1:p.Leu552fs, NP_001310983.1:p.Leu552fs, XP_006722636.1:p.Leu600fs

                        12.

                        rs1467167436 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          18:46890630 (GRCh38)
                          18:44470593 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:46890629:T:C
                          Gene:
                          PIAS2 (Varview)
                          Functional Consequence:
                          missense_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000004/1 (GnomAD_exomes)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000018.10:g.46890630T>C, NC_000018.9:g.44470593T>C, NG_029865.2:g.31903A>G, NM_004671.5:c.449A>G, NM_004671.4:c.449A>G, NM_004671.3:c.449A>G, NM_173206.4:c.449A>G, NM_173206.3:c.449A>G, NR_148703.2:n.809A>G, NR_148703.1:n.834A>G, NM_001324049.2:c.422A>G, NM_001324049.1:c.422A>G, NM_001354038.2:c.422A>G, NM_001354038.1:c.422A>G, NM_001354035.2:c.422A>G, NM_001354035.1:c.422A>G, NR_148701.2:n.720A>G, NR_148701.1:n.745A>G, NM_001354039.2:c.422A>G, NM_001354039.1:c.422A>G, NM_001324048.2:c.422A>G, NM_001324048.1:c.422A>G, NM_001324046.2:c.422A>G, NM_001324046.1:c.422A>G, NR_148700.2:n.611A>G, NR_148700.1:n.636A>G, NM_001324047.2:c.422A>G, NM_001324047.1:c.422A>G, NM_001354036.2:c.422A>G, NM_001354036.1:c.422A>G, NM_001354034.2:c.449A>G, NM_001354034.1:c.449A>G, NR_148702.2:n.611A>G, NR_148702.1:n.636A>G, NR_136684.2:n.611A>G, NR_136684.1:n.636A>G, NM_001324057.2:c.422A>G, NM_001324057.1:c.422A>G, NM_001324055.2:c.422A>G, NM_001324055.1:c.422A>G, NM_001324059.2:c.422A>G, NM_001324059.1:c.422A>G, NM_001354037.2:c.422A>G, NM_001354037.1:c.422A>G, NM_001324058.2:c.449A>G, NM_001324058.1:c.449A>G, NM_001324053.2:c.422A>G, NM_001324053.1:c.422A>G, NM_001324052.2:c.422A>G, NM_001324052.1:c.422A>G, NM_001354033.2:c.422A>G, NM_001354033.1:c.422A>G, NM_001324051.2:c.422A>G, NM_001324051.1:c.422A>G, NM_001324054.2:c.422A>G, NM_001324054.1:c.422A>G, NR_148699.2:n.611A>G, NR_148699.1:n.636A>G, NM_001324060.2:c.461A>G, NM_001324060.1:c.461A>G, XM_006722573.3:c.566A>G, XM_006722573.2:c.566A>G, XM_006722573.1:c.566A>G, NP_004662.2:p.Asn150Ser, NP_775298.1:p.Asn150Ser, NP_001310978.1:p.Asn141Ser, NP_001340967.1:p.Asn141Ser, NP_001340964.1:p.Asn141Ser, NP_001340968.1:p.Asn141Ser, NP_001310977.1:p.Asn141Ser, NP_001310975.1:p.Asn141Ser, NP_001310976.1:p.Asn141Ser, NP_001340965.1:p.Asn141Ser, NP_001340963.1:p.Asn150Ser, NP_001310986.1:p.Asn141Ser, NP_001310984.1:p.Asn141Ser, NP_001310988.1:p.Asn141Ser, NP_001340966.1:p.Asn141Ser, NP_001310987.1:p.Asn150Ser, NP_001310982.1:p.Asn141Ser, NP_001310981.1:p.Asn141Ser, NP_001340962.1:p.Asn141Ser, NP_001310980.1:p.Asn141Ser, NP_001310983.1:p.Asn141Ser, NP_001310989.1:p.Asn154Ser, XP_006722636.1:p.Asn189Ser

                          13.

                          rs1464853413 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            A>T [Show Flanks]
                            Chromosome:
                            18:46828063 (GRCh38)
                            18:44408026 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:46828062:A:T
                            Gene:
                            PIAS2 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000018.10:g.46828063A>T, NC_000018.9:g.44408026A>T, NG_029865.2:g.94470T>A, NM_004671.5:c.1404T>A, NM_004671.4:c.1404T>A, NM_004671.3:c.1404T>A, NM_173206.4:c.1404T>A, NM_173206.3:c.1404T>A, NR_148703.2:n.1764T>A, NR_148703.1:n.1789T>A, NM_001324049.2:c.1377T>A, NM_001324049.1:c.1377T>A, NM_001354038.2:c.1377T>A, NM_001354038.1:c.1377T>A, NM_001354035.2:c.1377T>A, NM_001354035.1:c.1377T>A, NR_148701.2:n.1675T>A, NR_148701.1:n.1700T>A, NM_001354039.2:c.1377T>A, NM_001354039.1:c.1377T>A, NM_001324048.2:c.1377T>A, NM_001324048.1:c.1377T>A, NM_001324046.2:c.1377T>A, NM_001324046.1:c.1377T>A, NR_148700.2:n.1566T>A, NR_148700.1:n.1591T>A, NM_001324047.2:c.1377T>A, NM_001324047.1:c.1377T>A, NM_001354036.2:c.1377T>A, NM_001354036.1:c.1377T>A, NM_001354034.2:c.1404T>A, NM_001354034.1:c.1404T>A, NR_148702.2:n.1481T>A, NR_148702.1:n.1506T>A, NR_136684.2:n.1481T>A, NR_136684.1:n.1506T>A, NM_001324057.2:c.1377T>A, NM_001324057.1:c.1377T>A, NM_001324055.2:c.1377T>A, NM_001324055.1:c.1377T>A, NM_001324059.2:c.1377T>A, NM_001324059.1:c.1377T>A, NM_001354037.2:c.1377T>A, NM_001354037.1:c.1377T>A, NM_001324058.2:c.1404T>A, NM_001324058.1:c.1404T>A, NM_001324053.2:c.1377T>A, NM_001324053.1:c.1377T>A, NM_001324052.2:c.1377T>A, NM_001324052.1:c.1377T>A, NM_001354033.2:c.1377T>A, NM_001354033.1:c.1377T>A, NM_001324051.2:c.1377T>A, NM_001324051.1:c.1377T>A, NM_001324054.2:c.1377T>A, NM_001324054.1:c.1377T>A, NR_148699.2:n.1481T>A, NR_148699.1:n.1506T>A, NR_136685.2:n.1091T>A, NR_136685.1:n.1116T>A, XM_006722573.3:c.1521T>A, XM_006722573.2:c.1521T>A, XM_006722573.1:c.1521T>A, NP_004662.2:p.Asp468Glu, NP_775298.1:p.Asp468Glu, NP_001310978.1:p.Asp459Glu, NP_001340967.1:p.Asp459Glu, NP_001340964.1:p.Asp459Glu, NP_001340968.1:p.Asp459Glu, NP_001310977.1:p.Asp459Glu, NP_001310975.1:p.Asp459Glu, NP_001310976.1:p.Asp459Glu, NP_001340965.1:p.Asp459Glu, NP_001340963.1:p.Asp468Glu, NP_001310986.1:p.Asp459Glu, NP_001310984.1:p.Asp459Glu, NP_001310988.1:p.Asp459Glu, NP_001340966.1:p.Asp459Glu, NP_001310987.1:p.Asp468Glu, NP_001310982.1:p.Asp459Glu, NP_001310981.1:p.Asp459Glu, NP_001340962.1:p.Asp459Glu, NP_001310980.1:p.Asp459Glu, NP_001310983.1:p.Asp459Glu, XP_006722636.1:p.Asp507Glu

                            14.

                            rs1463262856 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              18:46890581 (GRCh38)
                              18:44470544 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:46890580:T:C
                              Gene:
                              PIAS2 (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000011/3 (TOPMED)
                              HGVS:
                              NC_000018.10:g.46890581T>C, NC_000018.9:g.44470544T>C, NG_029865.2:g.31952A>G, NM_004671.5:c.498A>G, NM_004671.4:c.498A>G, NM_004671.3:c.498A>G, NM_173206.4:c.498A>G, NM_173206.3:c.498A>G, NR_148703.2:n.858A>G, NR_148703.1:n.883A>G, NM_001324049.2:c.471A>G, NM_001324049.1:c.471A>G, NM_001354038.2:c.471A>G, NM_001354038.1:c.471A>G, NM_001354035.2:c.471A>G, NM_001354035.1:c.471A>G, NR_148701.2:n.769A>G, NR_148701.1:n.794A>G, NM_001354039.2:c.471A>G, NM_001354039.1:c.471A>G, NM_001324048.2:c.471A>G, NM_001324048.1:c.471A>G, NM_001324046.2:c.471A>G, NM_001324046.1:c.471A>G, NR_148700.2:n.660A>G, NR_148700.1:n.685A>G, NM_001324047.2:c.471A>G, NM_001324047.1:c.471A>G, NM_001354036.2:c.471A>G, NM_001354036.1:c.471A>G, NM_001354034.2:c.498A>G, NM_001354034.1:c.498A>G, NR_148702.2:n.660A>G, NR_148702.1:n.685A>G, NR_136684.2:n.660A>G, NR_136684.1:n.685A>G, NM_001324057.2:c.471A>G, NM_001324057.1:c.471A>G, NM_001324055.2:c.471A>G, NM_001324055.1:c.471A>G, NM_001324059.2:c.471A>G, NM_001324059.1:c.471A>G, NM_001354037.2:c.471A>G, NM_001354037.1:c.471A>G, NM_001324058.2:c.498A>G, NM_001324058.1:c.498A>G, NM_001324053.2:c.471A>G, NM_001324053.1:c.471A>G, NM_001324052.2:c.471A>G, NM_001324052.1:c.471A>G, NM_001354033.2:c.471A>G, NM_001354033.1:c.471A>G, NM_001324051.2:c.471A>G, NM_001324051.1:c.471A>G, NM_001324054.2:c.471A>G, NM_001324054.1:c.471A>G, NR_148699.2:n.660A>G, NR_148699.1:n.685A>G, NM_001324060.2:c.510A>G, NM_001324060.1:c.510A>G, XM_006722573.3:c.615A>G, XM_006722573.2:c.615A>G, XM_006722573.1:c.615A>G

                              15.

                              rs1462512069 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                18:46828115 (GRCh38)
                                18:44408078 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:46828114:C:T
                                Gene:
                                PIAS2 (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                NC_000018.10:g.46828115C>T, NC_000018.9:g.44408078C>T, NG_029865.2:g.94418G>A, NM_004671.5:c.1352G>A, NM_004671.4:c.1352G>A, NM_004671.3:c.1352G>A, NM_173206.4:c.1352G>A, NM_173206.3:c.1352G>A, NR_148703.2:n.1712G>A, NR_148703.1:n.1737G>A, NM_001324049.2:c.1325G>A, NM_001324049.1:c.1325G>A, NM_001354038.2:c.1325G>A, NM_001354038.1:c.1325G>A, NM_001354035.2:c.1325G>A, NM_001354035.1:c.1325G>A, NR_148701.2:n.1623G>A, NR_148701.1:n.1648G>A, NM_001354039.2:c.1325G>A, NM_001354039.1:c.1325G>A, NM_001324048.2:c.1325G>A, NM_001324048.1:c.1325G>A, NM_001324046.2:c.1325G>A, NM_001324046.1:c.1325G>A, NR_148700.2:n.1514G>A, NR_148700.1:n.1539G>A, NM_001324047.2:c.1325G>A, NM_001324047.1:c.1325G>A, NM_001354036.2:c.1325G>A, NM_001354036.1:c.1325G>A, NM_001354034.2:c.1352G>A, NM_001354034.1:c.1352G>A, NR_148702.2:n.1429G>A, NR_148702.1:n.1454G>A, NR_136684.2:n.1429G>A, NR_136684.1:n.1454G>A, NM_001324057.2:c.1325G>A, NM_001324057.1:c.1325G>A, NM_001324055.2:c.1325G>A, NM_001324055.1:c.1325G>A, NM_001324059.2:c.1325G>A, NM_001324059.1:c.1325G>A, NM_001354037.2:c.1325G>A, NM_001354037.1:c.1325G>A, NM_001324058.2:c.1352G>A, NM_001324058.1:c.1352G>A, NM_001324053.2:c.1325G>A, NM_001324053.1:c.1325G>A, NM_001324052.2:c.1325G>A, NM_001324052.1:c.1325G>A, NM_001354033.2:c.1325G>A, NM_001354033.1:c.1325G>A, NM_001324051.2:c.1325G>A, NM_001324051.1:c.1325G>A, NM_001324054.2:c.1325G>A, NM_001324054.1:c.1325G>A, NR_148699.2:n.1429G>A, NR_148699.1:n.1454G>A, NR_136685.2:n.1039G>A, NR_136685.1:n.1064G>A, XM_006722573.3:c.1469G>A, XM_006722573.2:c.1469G>A, XM_006722573.1:c.1469G>A, NP_004662.2:p.Ser451Asn, NP_775298.1:p.Ser451Asn, NP_001310978.1:p.Ser442Asn, NP_001340967.1:p.Ser442Asn, NP_001340964.1:p.Ser442Asn, NP_001340968.1:p.Ser442Asn, NP_001310977.1:p.Ser442Asn, NP_001310975.1:p.Ser442Asn, NP_001310976.1:p.Ser442Asn, NP_001340965.1:p.Ser442Asn, NP_001340963.1:p.Ser451Asn, NP_001310986.1:p.Ser442Asn, NP_001310984.1:p.Ser442Asn, NP_001310988.1:p.Ser442Asn, NP_001340966.1:p.Ser442Asn, NP_001310987.1:p.Ser451Asn, NP_001310982.1:p.Ser442Asn, NP_001310981.1:p.Ser442Asn, NP_001340962.1:p.Ser442Asn, NP_001310980.1:p.Ser442Asn, NP_001310983.1:p.Ser442Asn, XP_006722636.1:p.Ser490Asn

                                16.

                                rs1458722175 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  18:46864187 (GRCh38)
                                  18:44444150 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:46864186:T:C
                                  Gene:
                                  PIAS2 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                  HGVS:
                                  NC_000018.10:g.46864187T>C, NC_000018.9:g.44444150T>C, NG_029865.2:g.58346A>G, NM_004671.5:c.561A>G, NM_004671.4:c.561A>G, NM_004671.3:c.561A>G, NM_173206.4:c.561A>G, NM_173206.3:c.561A>G, NR_148703.2:n.921A>G, NR_148703.1:n.946A>G, NM_001324049.2:c.534A>G, NM_001324049.1:c.534A>G, NM_001354038.2:c.534A>G, NM_001354038.1:c.534A>G, NM_001354035.2:c.534A>G, NM_001354035.1:c.534A>G, NR_148701.2:n.832A>G, NR_148701.1:n.857A>G, NM_001354039.2:c.534A>G, NM_001354039.1:c.534A>G, NM_001324048.2:c.534A>G, NM_001324048.1:c.534A>G, NM_001324046.2:c.534A>G, NM_001324046.1:c.534A>G, NR_148700.2:n.723A>G, NR_148700.1:n.748A>G, NM_001324047.2:c.534A>G, NM_001324047.1:c.534A>G, NM_001354036.2:c.534A>G, NM_001354036.1:c.534A>G, NM_001354034.2:c.561A>G, NM_001354034.1:c.561A>G, NM_001324057.2:c.534A>G, NM_001324057.1:c.534A>G, NM_001324055.2:c.534A>G, NM_001324055.1:c.534A>G, NM_001324059.2:c.534A>G, NM_001324059.1:c.534A>G, NM_001354037.2:c.534A>G, NM_001354037.1:c.534A>G, NM_001324058.2:c.561A>G, NM_001324058.1:c.561A>G, NM_001324053.2:c.534A>G, NM_001324053.1:c.534A>G, NM_001324052.2:c.534A>G, NM_001324052.1:c.534A>G, NM_001354033.2:c.534A>G, NM_001354033.1:c.534A>G, NM_001324051.2:c.534A>G, NM_001324051.1:c.534A>G, NM_001324054.2:c.534A>G, NM_001324054.1:c.534A>G, NR_136685.2:n.248A>G, NR_136685.1:n.273A>G, NM_001324060.2:c.573A>G, NM_001324060.1:c.573A>G, XM_006722573.3:c.678A>G, XM_006722573.2:c.678A>G, XM_006722573.1:c.678A>G

                                  17.

                                  rs1451707405 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    18:46821004 (GRCh38)
                                    18:44400967 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:46821003:G:A
                                    Gene:
                                    PIAS2 (Varview)
                                    Functional Consequence:
                                    genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    A=0.000015/4 (TOPMED)
                                    A=0.000021/3 (GnomAD)
                                    HGVS:
                                    NC_000018.10:g.46821004G>A, NC_000018.9:g.44400967G>A, NG_029865.2:g.101529C>T, NM_004671.5:c.1577C>T, NM_004671.4:c.1577C>T, NM_004671.3:c.1577C>T, NM_173206.4:c.1577C>T, NM_173206.3:c.1577C>T, NR_148703.2:n.1937C>T, NR_148703.1:n.1962C>T, NM_001324049.2:c.1550C>T, NM_001324049.1:c.1550C>T, NM_001354038.2:c.1550C>T, NM_001354038.1:c.1550C>T, NM_001354035.2:c.1550C>T, NM_001354035.1:c.1550C>T, NR_148701.2:n.1848C>T, NR_148701.1:n.1873C>T, NM_001354039.2:c.1550C>T, NM_001354039.1:c.1550C>T, NM_001324048.2:c.1550C>T, NM_001324048.1:c.1550C>T, NM_001324046.2:c.1550C>T, NM_001324046.1:c.1550C>T, NR_148700.2:n.1739C>T, NR_148700.1:n.1764C>T, NM_001324047.2:c.1550C>T, NM_001324047.1:c.1550C>T, NM_001354036.2:c.1550C>T, NM_001354036.1:c.1550C>T, NM_001354034.2:c.1577C>T, NM_001354034.1:c.1577C>T, NR_148702.2:n.1654C>T, NR_148702.1:n.1679C>T, NR_136684.2:n.1654C>T, NR_136684.1:n.1679C>T, NM_001324053.2:c.1550C>T, NM_001324053.1:c.1550C>T, NM_001324052.2:c.1550C>T, NM_001324052.1:c.1550C>T, NM_001354033.2:c.1550C>T, NM_001354033.1:c.1550C>T, NM_001324051.2:c.1550C>T, NM_001324051.1:c.1550C>T, NM_001324054.2:c.1550C>T, NM_001324054.1:c.1550C>T, NR_148699.2:n.1654C>T, NR_148699.1:n.1679C>T, NR_136685.2:n.1264C>T, NR_136685.1:n.1289C>T, XM_006722573.3:c.1694C>T, XM_006722573.2:c.1694C>T, XM_006722573.1:c.1694C>T, NP_004662.2:p.Pro526Leu, NP_775298.1:p.Pro526Leu, NP_001310978.1:p.Pro517Leu, NP_001340967.1:p.Pro517Leu, NP_001340964.1:p.Pro517Leu, NP_001340968.1:p.Pro517Leu, NP_001310977.1:p.Pro517Leu, NP_001310975.1:p.Pro517Leu, NP_001310976.1:p.Pro517Leu, NP_001340965.1:p.Pro517Leu, NP_001340963.1:p.Pro526Leu, NP_001310982.1:p.Pro517Leu, NP_001310981.1:p.Pro517Leu, NP_001340962.1:p.Pro517Leu, NP_001310980.1:p.Pro517Leu, NP_001310983.1:p.Pro517Leu, XP_006722636.1:p.Pro565Leu

                                    18.

                                    rs1450323656 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      18:46890767 (GRCh38)
                                      18:44470730 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:46890766:C:G,NC_000018.10:46890766:C:T
                                      Gene:
                                      PIAS2 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,missense_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      G=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000018.10:g.46890767C>G, NC_000018.10:g.46890767C>T, NC_000018.9:g.44470730C>G, NC_000018.9:g.44470730C>T, NG_029865.2:g.31766G>C, NG_029865.2:g.31766G>A, NM_004671.5:c.312G>C, NM_004671.5:c.312G>A, NM_004671.4:c.312G>C, NM_004671.4:c.312G>A, NM_004671.3:c.312G>C, NM_004671.3:c.312G>A, NM_173206.4:c.312G>C, NM_173206.4:c.312G>A, NM_173206.3:c.312G>C, NM_173206.3:c.312G>A, NR_148703.2:n.672G>C, NR_148703.2:n.672G>A, NR_148703.1:n.697G>C, NR_148703.1:n.697G>A, NM_001324049.2:c.285G>C, NM_001324049.2:c.285G>A, NM_001324049.1:c.285G>C, NM_001324049.1:c.285G>A, NM_001354038.2:c.285G>C, NM_001354038.2:c.285G>A, NM_001354038.1:c.285G>C, NM_001354038.1:c.285G>A, NM_001354035.2:c.285G>C, NM_001354035.2:c.285G>A, NM_001354035.1:c.285G>C, NM_001354035.1:c.285G>A, NR_148701.2:n.583G>C, NR_148701.2:n.583G>A, NR_148701.1:n.608G>C, NR_148701.1:n.608G>A, NM_001354039.2:c.285G>C, NM_001354039.2:c.285G>A, NM_001354039.1:c.285G>C, NM_001354039.1:c.285G>A, NM_001324048.2:c.285G>C, NM_001324048.2:c.285G>A, NM_001324048.1:c.285G>C, NM_001324048.1:c.285G>A, NM_001324046.2:c.285G>C, NM_001324046.2:c.285G>A, NM_001324046.1:c.285G>C, NM_001324046.1:c.285G>A, NR_148700.2:n.474G>C, NR_148700.2:n.474G>A, NR_148700.1:n.499G>C, NR_148700.1:n.499G>A, NM_001324047.2:c.285G>C, NM_001324047.2:c.285G>A, NM_001324047.1:c.285G>C, NM_001324047.1:c.285G>A, NM_001354036.2:c.285G>C, NM_001354036.2:c.285G>A, NM_001354036.1:c.285G>C, NM_001354036.1:c.285G>A, NM_001354034.2:c.312G>C, NM_001354034.2:c.312G>A, NM_001354034.1:c.312G>C, NM_001354034.1:c.312G>A, NR_148702.2:n.474G>C, NR_148702.2:n.474G>A, NR_148702.1:n.499G>C, NR_148702.1:n.499G>A, NR_136684.2:n.474G>C, NR_136684.2:n.474G>A, NR_136684.1:n.499G>C, NR_136684.1:n.499G>A, NM_001324057.2:c.285G>C, NM_001324057.2:c.285G>A, NM_001324057.1:c.285G>C, NM_001324057.1:c.285G>A, NM_001324055.2:c.285G>C, NM_001324055.2:c.285G>A, NM_001324055.1:c.285G>C, NM_001324055.1:c.285G>A, NM_001324059.2:c.285G>C, NM_001324059.2:c.285G>A, NM_001324059.1:c.285G>C, NM_001324059.1:c.285G>A, NM_001354037.2:c.285G>C, NM_001354037.2:c.285G>A, NM_001354037.1:c.285G>C, NM_001354037.1:c.285G>A, NM_001324058.2:c.312G>C, NM_001324058.2:c.312G>A, NM_001324058.1:c.312G>C, NM_001324058.1:c.312G>A, NM_001324053.2:c.285G>C, NM_001324053.2:c.285G>A, NM_001324053.1:c.285G>C, NM_001324053.1:c.285G>A, NM_001324052.2:c.285G>C, NM_001324052.2:c.285G>A, NM_001324052.1:c.285G>C, NM_001324052.1:c.285G>A, NM_001354033.2:c.285G>C, NM_001354033.2:c.285G>A, NM_001354033.1:c.285G>C, NM_001354033.1:c.285G>A, NM_001324051.2:c.285G>C, NM_001324051.2:c.285G>A, NM_001324051.1:c.285G>C, NM_001324051.1:c.285G>A, NM_001324054.2:c.285G>C, NM_001324054.2:c.285G>A, NM_001324054.1:c.285G>C, NM_001324054.1:c.285G>A, NR_148699.2:n.474G>C, NR_148699.2:n.474G>A, NR_148699.1:n.499G>C, NR_148699.1:n.499G>A, NM_001324060.2:c.324G>C, NM_001324060.2:c.324G>A, NM_001324060.1:c.324G>C, NM_001324060.1:c.324G>A, XM_006722573.3:c.429G>C, XM_006722573.3:c.429G>A, XM_006722573.2:c.429G>C, XM_006722573.2:c.429G>A, XM_006722573.1:c.429G>C, XM_006722573.1:c.429G>A, NP_004662.2:p.Leu104Phe, NP_775298.1:p.Leu104Phe, NP_001310978.1:p.Leu95Phe, NP_001340967.1:p.Leu95Phe, NP_001340964.1:p.Leu95Phe, NP_001340968.1:p.Leu95Phe, NP_001310977.1:p.Leu95Phe, NP_001310975.1:p.Leu95Phe, NP_001310976.1:p.Leu95Phe, NP_001340965.1:p.Leu95Phe, NP_001340963.1:p.Leu104Phe, NP_001310986.1:p.Leu95Phe, NP_001310984.1:p.Leu95Phe, NP_001310988.1:p.Leu95Phe, NP_001340966.1:p.Leu95Phe, NP_001310987.1:p.Leu104Phe, NP_001310982.1:p.Leu95Phe, NP_001310981.1:p.Leu95Phe, NP_001340962.1:p.Leu95Phe, NP_001310980.1:p.Leu95Phe, NP_001310983.1:p.Leu95Phe, NP_001310989.1:p.Leu108Phe, XP_006722636.1:p.Leu143Phe

                                      19.

                                      rs1448550606 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        18:46818378 (GRCh38)
                                        18:44398341 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:46818377:C:T
                                        Gene:
                                        PIAS2 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,terminator_codon_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000005/1 (GnomAD_exomes)
                                        T=0.000008/2 (TOPMED)
                                        T=0.000014/2 (GnomAD)
                                        HGVS:

                                        20.

                                        rs1448261954 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>C [Show Flanks]
                                          Chromosome:
                                          18:46818427 (GRCh38)
                                          18:44398390 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:46818426:T:C
                                          Gene:
                                          PIAS2 (Varview)
                                          Functional Consequence:
                                          genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                                          HGVS:
                                          NC_000018.10:g.46818427T>C, NC_000018.9:g.44398390T>C, NG_029865.2:g.104106A>G, NM_173206.4:c.1669A>G, NM_173206.3:c.1669A>G, NR_148703.2:n.2029A>G, NR_148703.1:n.2054A>G, NR_148701.2:n.1940A>G, NR_148701.1:n.1965A>G, NR_148700.2:n.1831A>G, NR_148700.1:n.1856A>G, NM_001324053.2:c.1642A>G, NM_001324053.1:c.1642A>G, NM_001324052.2:c.1642A>G, NM_001324052.1:c.1642A>G, NM_001354033.2:c.1642A>G, NM_001354033.1:c.1642A>G, NM_001324051.2:c.1642A>G, NM_001324051.1:c.1642A>G, NM_001324054.2:c.1642A>G, NM_001324054.1:c.1642A>G, NR_148699.2:n.1746A>G, NR_148699.1:n.1771A>G, NR_136685.2:n.1356A>G, NR_136685.1:n.1381A>G, XM_006722573.3:c.1786A>G, XM_006722573.2:c.1786A>G, XM_006722573.1:c.1786A>G, NP_775298.1:p.Ile557Val, NP_001310982.1:p.Ile548Val, NP_001310981.1:p.Ile548Val, NP_001340962.1:p.Ile548Val, NP_001310980.1:p.Ile548Val, NP_001310983.1:p.Ile548Val, XP_006722636.1:p.Ile596Val

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