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Items: 1 to 20 of 709

1.

rs1490450186 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    8:144500926 (GRCh38)
    8:145726309 (GRCh37)
    Canonical SPDI:
    NC_000008.11:144500925:A:G
    Gene:
    PPP1R16A (Varview), LOC101928953 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0./0 (ALFA)
    G=0.000009/1 (GnomAD_exomes)
    HGVS:
    NC_000008.11:g.144500926A>G, NC_000008.10:g.145726309A>G, NG_015828.1:g.1845A>G, NM_032902.7:c.992A>G, NM_032902.6:c.992A>G, NM_032902.5:c.992A>G, NM_001329442.2:c.992A>G, NM_001329442.1:c.992A>G, NM_001329444.2:c.992A>G, NM_001329444.1:c.992A>G, NM_001329445.2:c.992A>G, NM_001329445.1:c.992A>G, NM_001329443.2:c.992A>G, NM_001329443.1:c.992A>G, XM_047422337.1:c.1214A>G, XM_047422338.1:c.1214A>G, XM_047422334.1:c.1214A>G, XM_047422335.1:c.1214A>G, XM_047422336.1:c.1214A>G, XM_047422332.1:c.1214A>G, XM_047422331.1:c.1214A>G, XM_047422341.1:c.1025A>G, XM_047422342.1:c.1025A>G, XM_047422345.1:c.992A>G, XM_047422340.1:c.1025A>G, XM_047422343.1:c.992A>G, XM_047422350.1:c.803A>G, XM_047422339.1:c.1214A>G, XM_047422351.1:c.803A>G, XM_047422349.1:c.803A>G, XM_047422348.1:c.803A>G, XM_047422347.1:c.803A>G, XM_047422346.1:c.992A>G, XM_047422352.1:c.803A>G, NP_116291.1:p.Gln331Arg, NP_001316371.1:p.Gln331Arg, NP_001316373.1:p.Gln331Arg, NP_001316374.1:p.Gln331Arg, NP_001316372.1:p.Gln331Arg, XP_047278293.1:p.Gln405Arg, XP_047278294.1:p.Gln405Arg, XP_047278290.1:p.Gln405Arg, XP_047278291.1:p.Gln405Arg, XP_047278292.1:p.Gln405Arg, XP_047278288.1:p.Gln405Arg, XP_047278287.1:p.Gln405Arg, XP_047278297.1:p.Gln342Arg, XP_047278298.1:p.Gln342Arg, XP_047278301.1:p.Gln331Arg, XP_047278296.1:p.Gln342Arg, XP_047278299.1:p.Gln331Arg, XP_047278306.1:p.Gln268Arg, XP_047278295.1:p.Gln405Arg, XP_047278307.1:p.Gln268Arg, XP_047278305.1:p.Gln268Arg, XP_047278304.1:p.Gln268Arg, XP_047278303.1:p.Gln268Arg, XP_047278302.1:p.Gln331Arg, XP_047278308.1:p.Gln268Arg

    2.

    rs1489456075 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,T [Show Flanks]
      Chromosome:
      8:144501571 (GRCh38)
      8:145726954 (GRCh37)
      Canonical SPDI:
      NC_000008.11:144501570:C:A,NC_000008.11:144501570:C:T
      Gene:
      GPT (Varview), PPP1R16A (Varview), LOC101928953 (Varview)
      Functional Consequence:
      missense_variant,intron_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      T=0./0 (ALFA)
      HGVS:
      NC_000008.11:g.144501571C>A, NC_000008.11:g.144501571C>T, NC_000008.10:g.145726954C>A, NC_000008.10:g.145726954C>T, NG_015828.1:g.2490C>A, NG_015828.1:g.2490C>T, NM_032902.7:c.1255C>A, NM_032902.7:c.1255C>T, NM_032902.6:c.1255C>A, NM_032902.6:c.1255C>T, NM_032902.5:c.1255C>A, NM_032902.5:c.1255C>T, NM_001329442.2:c.1255C>A, NM_001329442.2:c.1255C>T, NM_001329442.1:c.1255C>A, NM_001329442.1:c.1255C>T, NM_001329444.2:c.1255C>A, NM_001329444.2:c.1255C>T, NM_001329444.1:c.1255C>A, NM_001329444.1:c.1255C>T, NM_001329445.2:c.1255C>A, NM_001329445.2:c.1255C>T, NM_001329445.1:c.1255C>A, NM_001329445.1:c.1255C>T, NM_001329443.2:c.1255C>A, NM_001329443.2:c.1255C>T, NM_001329443.1:c.1255C>A, NM_001329443.1:c.1255C>T, XM_047422337.1:c.1477C>A, XM_047422337.1:c.1477C>T, XM_047422338.1:c.1477C>A, XM_047422338.1:c.1477C>T, XM_047422334.1:c.1477C>A, XM_047422334.1:c.1477C>T, XM_047422335.1:c.1477C>A, XM_047422335.1:c.1477C>T, XM_047422336.1:c.1477C>A, XM_047422336.1:c.1477C>T, XM_047422332.1:c.1477C>A, XM_047422332.1:c.1477C>T, XM_047422331.1:c.1477C>A, XM_047422331.1:c.1477C>T, XM_047422341.1:c.1288C>A, XM_047422341.1:c.1288C>T, XM_047422342.1:c.1288C>A, XM_047422342.1:c.1288C>T, XM_047422345.1:c.1255C>A, XM_047422345.1:c.1255C>T, XM_047422340.1:c.1288C>A, XM_047422340.1:c.1288C>T, XM_047422343.1:c.1255C>A, XM_047422343.1:c.1255C>T, XM_047422350.1:c.1066C>A, XM_047422350.1:c.1066C>T, XM_047422339.1:c.1477C>A, XM_047422339.1:c.1477C>T, XM_047422351.1:c.1066C>A, XM_047422351.1:c.1066C>T, XM_047422349.1:c.1066C>A, XM_047422349.1:c.1066C>T, XM_047422348.1:c.1066C>A, XM_047422348.1:c.1066C>T, XM_047422347.1:c.1066C>A, XM_047422347.1:c.1066C>T, XM_047422346.1:c.1255C>A, XM_047422346.1:c.1255C>T, XM_047422352.1:c.1066C>A, XM_047422352.1:c.1066C>T, NP_116291.1:p.Pro419Thr, NP_116291.1:p.Pro419Ser, NP_001316371.1:p.Pro419Thr, NP_001316371.1:p.Pro419Ser, NP_001316373.1:p.Pro419Thr, NP_001316373.1:p.Pro419Ser, NP_001316374.1:p.Pro419Thr, NP_001316374.1:p.Pro419Ser, NP_001316372.1:p.Pro419Thr, NP_001316372.1:p.Pro419Ser, XP_047278293.1:p.Pro493Thr, XP_047278293.1:p.Pro493Ser, XP_047278294.1:p.Pro493Thr, XP_047278294.1:p.Pro493Ser, XP_047278290.1:p.Pro493Thr, XP_047278290.1:p.Pro493Ser, XP_047278291.1:p.Pro493Thr, XP_047278291.1:p.Pro493Ser, XP_047278292.1:p.Pro493Thr, XP_047278292.1:p.Pro493Ser, XP_047278288.1:p.Pro493Thr, XP_047278288.1:p.Pro493Ser, XP_047278287.1:p.Pro493Thr, XP_047278287.1:p.Pro493Ser, XP_047278297.1:p.Pro430Thr, XP_047278297.1:p.Pro430Ser, XP_047278298.1:p.Pro430Thr, XP_047278298.1:p.Pro430Ser, XP_047278301.1:p.Pro419Thr, XP_047278301.1:p.Pro419Ser, XP_047278296.1:p.Pro430Thr, XP_047278296.1:p.Pro430Ser, XP_047278299.1:p.Pro419Thr, XP_047278299.1:p.Pro419Ser, XP_047278306.1:p.Pro356Thr, XP_047278306.1:p.Pro356Ser, XP_047278295.1:p.Pro493Thr, XP_047278295.1:p.Pro493Ser, XP_047278307.1:p.Pro356Thr, XP_047278307.1:p.Pro356Ser, XP_047278305.1:p.Pro356Thr, XP_047278305.1:p.Pro356Ser, XP_047278304.1:p.Pro356Thr, XP_047278304.1:p.Pro356Ser, XP_047278303.1:p.Pro356Thr, XP_047278303.1:p.Pro356Ser, XP_047278302.1:p.Pro419Thr, XP_047278302.1:p.Pro419Ser, XP_047278308.1:p.Pro356Thr, XP_047278308.1:p.Pro356Ser

      3.

      rs1488136829 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>G,T [Show Flanks]
        Chromosome:
        8:144498795 (GRCh38)
        8:145724178 (GRCh37)
        Canonical SPDI:
        NC_000008.11:144498794:C:G,NC_000008.11:144498794:C:T
        Gene:
        PPP1R16A (Varview), LOC101928953 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
        Validated:
        by frequency,by cluster
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000008.11:g.144498795C>G, NC_000008.11:g.144498795C>T, NC_000008.10:g.145724178C>G, NC_000008.10:g.145724178C>T, NM_032902.7:c.285C>G, NM_032902.7:c.285C>T, NM_032902.6:c.285C>G, NM_032902.6:c.285C>T, NM_032902.5:c.285C>G, NM_032902.5:c.285C>T, NM_001329442.2:c.285C>G, NM_001329442.2:c.285C>T, NM_001329442.1:c.285C>G, NM_001329442.1:c.285C>T, NM_001329444.2:c.285C>G, NM_001329444.2:c.285C>T, NM_001329444.1:c.285C>G, NM_001329444.1:c.285C>T, NM_001329445.2:c.285C>G, NM_001329445.2:c.285C>T, NM_001329445.1:c.285C>G, NM_001329445.1:c.285C>T, NM_001329443.2:c.285C>G, NM_001329443.2:c.285C>T, NM_001329443.1:c.285C>G, NM_001329443.1:c.285C>T, XR_007061146.1:n.1007G>C, XR_007061146.1:n.1007G>A, XR_007061150.1:n.1007G>C, XR_007061150.1:n.1007G>A, XR_007061147.1:n.1007G>C, XR_007061147.1:n.1007G>A, XM_047422337.1:c.507C>G, XM_047422337.1:c.507C>T, XM_047422338.1:c.507C>G, XM_047422338.1:c.507C>T, XM_047422334.1:c.507C>G, XM_047422334.1:c.507C>T, XM_047422335.1:c.507C>G, XM_047422335.1:c.507C>T, XM_047422336.1:c.507C>G, XM_047422336.1:c.507C>T, XM_047422332.1:c.507C>G, XM_047422332.1:c.507C>T, XM_047422331.1:c.507C>G, XM_047422331.1:c.507C>T, XM_047422341.1:c.318C>G, XM_047422341.1:c.318C>T, XM_047422342.1:c.318C>G, XM_047422342.1:c.318C>T, XM_047422345.1:c.285C>G, XM_047422345.1:c.285C>T, XM_047422340.1:c.318C>G, XM_047422340.1:c.318C>T, XM_047422343.1:c.285C>G, XM_047422343.1:c.285C>T, XM_047422350.1:c.96C>G, XM_047422350.1:c.96C>T, XM_047422339.1:c.507C>G, XM_047422339.1:c.507C>T, XM_047422351.1:c.96C>G, XM_047422351.1:c.96C>T, XM_047422349.1:c.96C>G, XM_047422349.1:c.96C>T, XM_047422348.1:c.96C>G, XM_047422348.1:c.96C>T, XM_047422347.1:c.96C>G, XM_047422347.1:c.96C>T, XM_047422346.1:c.285C>G, XM_047422346.1:c.285C>T, XM_047422352.1:c.96C>G, XM_047422352.1:c.96C>T

        4.

        rs1487564006 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          8:144501150 (GRCh38)
          8:145726533 (GRCh37)
          Canonical SPDI:
          NC_000008.11:144501149:C:T
          Gene:
          GPT (Varview), PPP1R16A (Varview), LOC101928953 (Varview)
          Functional Consequence:
          synonymous_variant,intron_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000008.11:g.144501150C>T, NC_000008.10:g.145726533C>T, NG_015828.1:g.2069C>T, NM_032902.7:c.1059C>T, NM_032902.6:c.1059C>T, NM_032902.5:c.1059C>T, NM_001329442.2:c.1059C>T, NM_001329442.1:c.1059C>T, NM_001329444.2:c.1059C>T, NM_001329444.1:c.1059C>T, NM_001329445.2:c.1059C>T, NM_001329445.1:c.1059C>T, NM_001329443.2:c.1059C>T, NM_001329443.1:c.1059C>T, XM_047422337.1:c.1281C>T, XM_047422338.1:c.1281C>T, XM_047422334.1:c.1281C>T, XM_047422335.1:c.1281C>T, XM_047422336.1:c.1281C>T, XM_047422332.1:c.1281C>T, XM_047422331.1:c.1281C>T, XM_047422341.1:c.1092C>T, XM_047422342.1:c.1092C>T, XM_047422345.1:c.1059C>T, XM_047422340.1:c.1092C>T, XM_047422343.1:c.1059C>T, XM_047422350.1:c.870C>T, XM_047422339.1:c.1281C>T, XM_047422351.1:c.870C>T, XM_047422349.1:c.870C>T, XM_047422348.1:c.870C>T, XM_047422347.1:c.870C>T, XM_047422346.1:c.1059C>T, XM_047422352.1:c.870C>T

          5.

          rs1486723450 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C,T [Show Flanks]
            Chromosome:
            8:144500493 (GRCh38)
            8:145725876 (GRCh37)
            Canonical SPDI:
            NC_000008.11:144500492:G:C,NC_000008.11:144500492:G:T
            Gene:
            PPP1R16A (Varview), LOC101928953 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,intron_variant
            Validated:
            by frequency
            MAF:
            C=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.144500493G>C, NC_000008.11:g.144500493G>T, NC_000008.10:g.145725876G>C, NC_000008.10:g.145725876G>T, NG_015828.1:g.1412G>C, NG_015828.1:g.1412G>T, NM_032902.7:c.712G>C, NM_032902.7:c.712G>T, NM_032902.6:c.712G>C, NM_032902.6:c.712G>T, NM_032902.5:c.712G>C, NM_032902.5:c.712G>T, NM_001329442.2:c.712G>C, NM_001329442.2:c.712G>T, NM_001329442.1:c.712G>C, NM_001329442.1:c.712G>T, NM_001329444.2:c.712G>C, NM_001329444.2:c.712G>T, NM_001329444.1:c.712G>C, NM_001329444.1:c.712G>T, NM_001329445.2:c.712G>C, NM_001329445.2:c.712G>T, NM_001329445.1:c.712G>C, NM_001329445.1:c.712G>T, NM_001329443.2:c.712G>C, NM_001329443.2:c.712G>T, NM_001329443.1:c.712G>C, NM_001329443.1:c.712G>T, XM_047422337.1:c.934G>C, XM_047422337.1:c.934G>T, XM_047422338.1:c.934G>C, XM_047422338.1:c.934G>T, XM_047422334.1:c.934G>C, XM_047422334.1:c.934G>T, XM_047422335.1:c.934G>C, XM_047422335.1:c.934G>T, XM_047422336.1:c.934G>C, XM_047422336.1:c.934G>T, XM_047422332.1:c.934G>C, XM_047422332.1:c.934G>T, XM_047422331.1:c.934G>C, XM_047422331.1:c.934G>T, XM_047422341.1:c.745G>C, XM_047422341.1:c.745G>T, XM_047422342.1:c.745G>C, XM_047422342.1:c.745G>T, XM_047422345.1:c.712G>C, XM_047422345.1:c.712G>T, XM_047422340.1:c.745G>C, XM_047422340.1:c.745G>T, XM_047422343.1:c.712G>C, XM_047422343.1:c.712G>T, XM_047422350.1:c.523G>C, XM_047422350.1:c.523G>T, XM_047422339.1:c.934G>C, XM_047422339.1:c.934G>T, XM_047422351.1:c.523G>C, XM_047422351.1:c.523G>T, XM_047422349.1:c.523G>C, XM_047422349.1:c.523G>T, XM_047422348.1:c.523G>C, XM_047422348.1:c.523G>T, XM_047422347.1:c.523G>C, XM_047422347.1:c.523G>T, XM_047422346.1:c.712G>C, XM_047422346.1:c.712G>T, XM_047422352.1:c.523G>C, XM_047422352.1:c.523G>T, NP_116291.1:p.Val238Leu, NP_116291.1:p.Val238Phe, NP_001316371.1:p.Val238Leu, NP_001316371.1:p.Val238Phe, NP_001316373.1:p.Val238Leu, NP_001316373.1:p.Val238Phe, NP_001316374.1:p.Val238Leu, NP_001316374.1:p.Val238Phe, NP_001316372.1:p.Val238Leu, NP_001316372.1:p.Val238Phe, XP_047278293.1:p.Val312Leu, XP_047278293.1:p.Val312Phe, XP_047278294.1:p.Val312Leu, XP_047278294.1:p.Val312Phe, XP_047278290.1:p.Val312Leu, XP_047278290.1:p.Val312Phe, XP_047278291.1:p.Val312Leu, XP_047278291.1:p.Val312Phe, XP_047278292.1:p.Val312Leu, XP_047278292.1:p.Val312Phe, XP_047278288.1:p.Val312Leu, XP_047278288.1:p.Val312Phe, XP_047278287.1:p.Val312Leu, XP_047278287.1:p.Val312Phe, XP_047278297.1:p.Val249Leu, XP_047278297.1:p.Val249Phe, XP_047278298.1:p.Val249Leu, XP_047278298.1:p.Val249Phe, XP_047278301.1:p.Val238Leu, XP_047278301.1:p.Val238Phe, XP_047278296.1:p.Val249Leu, XP_047278296.1:p.Val249Phe, XP_047278299.1:p.Val238Leu, XP_047278299.1:p.Val238Phe, XP_047278306.1:p.Val175Leu, XP_047278306.1:p.Val175Phe, XP_047278295.1:p.Val312Leu, XP_047278295.1:p.Val312Phe, XP_047278307.1:p.Val175Leu, XP_047278307.1:p.Val175Phe, XP_047278305.1:p.Val175Leu, XP_047278305.1:p.Val175Phe, XP_047278304.1:p.Val175Leu, XP_047278304.1:p.Val175Phe, XP_047278303.1:p.Val175Leu, XP_047278303.1:p.Val175Phe, XP_047278302.1:p.Val238Leu, XP_047278302.1:p.Val238Phe, XP_047278308.1:p.Val175Leu, XP_047278308.1:p.Val175Phe

            6.

            rs1484556151 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              8:144501902 (GRCh38)
              8:145727285 (GRCh37)
              Canonical SPDI:
              NC_000008.11:144501901:G:A
              Gene:
              GPT (Varview), PPP1R16A (Varview), LOC101928953 (Varview)
              Functional Consequence:
              synonymous_variant,upstream_transcript_variant,terminator_codon_variant,2KB_upstream_variant,intron_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_000008.11:g.144501902G>A, NC_000008.10:g.145727285G>A, NG_015828.1:g.2821G>A, NM_032902.7:c.1586G>A, NM_032902.6:c.1586G>A, NM_032902.5:c.1586G>A, NM_001329442.2:c.1586G>A, NM_001329442.1:c.1586G>A, NM_001329444.2:c.1586G>A, NM_001329444.1:c.1586G>A, NM_001329445.2:c.1586G>A, NM_001329445.1:c.1586G>A, NM_001329443.2:c.1586G>A, NM_001329443.1:c.1586G>A, XM_047422337.1:c.1808G>A, XM_047422338.1:c.1808G>A, XM_047422334.1:c.1808G>A, XM_047422335.1:c.1808G>A, XM_047422336.1:c.1808G>A, XM_047422332.1:c.1808G>A, XM_047422331.1:c.1808G>A, XM_047422341.1:c.1619G>A, XM_047422342.1:c.1619G>A, XM_047422345.1:c.1586G>A, XM_047422340.1:c.1619G>A, XM_047422343.1:c.1586G>A, XM_047422350.1:c.1397G>A, XM_047422339.1:c.1808G>A, XM_047422351.1:c.1397G>A, XM_047422349.1:c.1397G>A, XM_047422348.1:c.1397G>A, XM_047422347.1:c.1397G>A, XM_047422346.1:c.1586G>A, XM_047422352.1:c.1397G>A

              7.

              rs1483575192 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A [Show Flanks]
                Chromosome:
                8:144501659 (GRCh38)
                8:145727042 (GRCh37)
                Canonical SPDI:
                NC_000008.11:144501658:T:A
                Gene:
                GPT (Varview), PPP1R16A (Varview), LOC101928953 (Varview)
                Functional Consequence:
                missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000008.11:g.144501659T>A, NC_000008.10:g.145727042T>A, NG_015828.1:g.2578T>A, NM_032902.7:c.1343T>A, NM_032902.6:c.1343T>A, NM_032902.5:c.1343T>A, NM_001329442.2:c.1343T>A, NM_001329442.1:c.1343T>A, NM_001329444.2:c.1343T>A, NM_001329444.1:c.1343T>A, NM_001329445.2:c.1343T>A, NM_001329445.1:c.1343T>A, NM_001329443.2:c.1343T>A, NM_001329443.1:c.1343T>A, XM_047422337.1:c.1565T>A, XM_047422338.1:c.1565T>A, XM_047422334.1:c.1565T>A, XM_047422335.1:c.1565T>A, XM_047422336.1:c.1565T>A, XM_047422332.1:c.1565T>A, XM_047422331.1:c.1565T>A, XM_047422341.1:c.1376T>A, XM_047422342.1:c.1376T>A, XM_047422345.1:c.1343T>A, XM_047422340.1:c.1376T>A, XM_047422343.1:c.1343T>A, XM_047422350.1:c.1154T>A, XM_047422339.1:c.1565T>A, XM_047422351.1:c.1154T>A, XM_047422349.1:c.1154T>A, XM_047422348.1:c.1154T>A, XM_047422347.1:c.1154T>A, XM_047422346.1:c.1343T>A, XM_047422352.1:c.1154T>A, NP_116291.1:p.Val448Asp, NP_001316371.1:p.Val448Asp, NP_001316373.1:p.Val448Asp, NP_001316374.1:p.Val448Asp, NP_001316372.1:p.Val448Asp, XP_047278293.1:p.Val522Asp, XP_047278294.1:p.Val522Asp, XP_047278290.1:p.Val522Asp, XP_047278291.1:p.Val522Asp, XP_047278292.1:p.Val522Asp, XP_047278288.1:p.Val522Asp, XP_047278287.1:p.Val522Asp, XP_047278297.1:p.Val459Asp, XP_047278298.1:p.Val459Asp, XP_047278301.1:p.Val448Asp, XP_047278296.1:p.Val459Asp, XP_047278299.1:p.Val448Asp, XP_047278306.1:p.Val385Asp, XP_047278295.1:p.Val522Asp, XP_047278307.1:p.Val385Asp, XP_047278305.1:p.Val385Asp, XP_047278304.1:p.Val385Asp, XP_047278303.1:p.Val385Asp, XP_047278302.1:p.Val448Asp, XP_047278308.1:p.Val385Asp

                8.

                rs1483143975 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  8:144501625 (GRCh38)
                  8:145727008 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:144501624:A:C
                  Gene:
                  GPT (Varview), PPP1R16A (Varview), LOC101928953 (Varview)
                  Functional Consequence:
                  missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000008.11:g.144501625A>C, NC_000008.10:g.145727008A>C, NG_015828.1:g.2544A>C, NM_032902.7:c.1309A>C, NM_032902.6:c.1309A>C, NM_032902.5:c.1309A>C, NM_001329442.2:c.1309A>C, NM_001329442.1:c.1309A>C, NM_001329444.2:c.1309A>C, NM_001329444.1:c.1309A>C, NM_001329445.2:c.1309A>C, NM_001329445.1:c.1309A>C, NM_001329443.2:c.1309A>C, NM_001329443.1:c.1309A>C, XM_047422337.1:c.1531A>C, XM_047422338.1:c.1531A>C, XM_047422334.1:c.1531A>C, XM_047422335.1:c.1531A>C, XM_047422336.1:c.1531A>C, XM_047422332.1:c.1531A>C, XM_047422331.1:c.1531A>C, XM_047422341.1:c.1342A>C, XM_047422342.1:c.1342A>C, XM_047422345.1:c.1309A>C, XM_047422340.1:c.1342A>C, XM_047422343.1:c.1309A>C, XM_047422350.1:c.1120A>C, XM_047422339.1:c.1531A>C, XM_047422351.1:c.1120A>C, XM_047422349.1:c.1120A>C, XM_047422348.1:c.1120A>C, XM_047422347.1:c.1120A>C, XM_047422346.1:c.1309A>C, XM_047422352.1:c.1120A>C, NP_116291.1:p.Ser437Arg, NP_001316371.1:p.Ser437Arg, NP_001316373.1:p.Ser437Arg, NP_001316374.1:p.Ser437Arg, NP_001316372.1:p.Ser437Arg, XP_047278293.1:p.Ser511Arg, XP_047278294.1:p.Ser511Arg, XP_047278290.1:p.Ser511Arg, XP_047278291.1:p.Ser511Arg, XP_047278292.1:p.Ser511Arg, XP_047278288.1:p.Ser511Arg, XP_047278287.1:p.Ser511Arg, XP_047278297.1:p.Ser448Arg, XP_047278298.1:p.Ser448Arg, XP_047278301.1:p.Ser437Arg, XP_047278296.1:p.Ser448Arg, XP_047278299.1:p.Ser437Arg, XP_047278306.1:p.Ser374Arg, XP_047278295.1:p.Ser511Arg, XP_047278307.1:p.Ser374Arg, XP_047278305.1:p.Ser374Arg, XP_047278304.1:p.Ser374Arg, XP_047278303.1:p.Ser374Arg, XP_047278302.1:p.Ser437Arg, XP_047278308.1:p.Ser374Arg

                  9.

                  rs1480524230 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    8:144500891 (GRCh38)
                    8:145726274 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:144500890:C:G
                    Gene:
                    PPP1R16A (Varview), LOC101928953 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency
                    MAF:
                    G=0.000007/1 (GnomAD_exomes)
                    HGVS:
                    NC_000008.11:g.144500891C>G, NC_000008.10:g.145726274C>G, NG_015828.1:g.1810C>G, NM_032902.7:c.957C>G, NM_032902.6:c.957C>G, NM_032902.5:c.957C>G, NM_001329442.2:c.957C>G, NM_001329442.1:c.957C>G, NM_001329444.2:c.957C>G, NM_001329444.1:c.957C>G, NM_001329445.2:c.957C>G, NM_001329445.1:c.957C>G, NM_001329443.2:c.957C>G, NM_001329443.1:c.957C>G, XM_047422337.1:c.1179C>G, XM_047422338.1:c.1179C>G, XM_047422334.1:c.1179C>G, XM_047422335.1:c.1179C>G, XM_047422336.1:c.1179C>G, XM_047422332.1:c.1179C>G, XM_047422331.1:c.1179C>G, XM_047422341.1:c.990C>G, XM_047422342.1:c.990C>G, XM_047422345.1:c.957C>G, XM_047422340.1:c.990C>G, XM_047422343.1:c.957C>G, XM_047422350.1:c.768C>G, XM_047422339.1:c.1179C>G, XM_047422351.1:c.768C>G, XM_047422349.1:c.768C>G, XM_047422348.1:c.768C>G, XM_047422347.1:c.768C>G, XM_047422346.1:c.957C>G, XM_047422352.1:c.768C>G, NP_116291.1:p.His319Gln, NP_001316371.1:p.His319Gln, NP_001316373.1:p.His319Gln, NP_001316374.1:p.His319Gln, NP_001316372.1:p.His319Gln, XP_047278293.1:p.His393Gln, XP_047278294.1:p.His393Gln, XP_047278290.1:p.His393Gln, XP_047278291.1:p.His393Gln, XP_047278292.1:p.His393Gln, XP_047278288.1:p.His393Gln, XP_047278287.1:p.His393Gln, XP_047278297.1:p.His330Gln, XP_047278298.1:p.His330Gln, XP_047278301.1:p.His319Gln, XP_047278296.1:p.His330Gln, XP_047278299.1:p.His319Gln, XP_047278306.1:p.His256Gln, XP_047278295.1:p.His393Gln, XP_047278307.1:p.His256Gln, XP_047278305.1:p.His256Gln, XP_047278304.1:p.His256Gln, XP_047278303.1:p.His256Gln, XP_047278302.1:p.His319Gln, XP_047278308.1:p.His256Gln

                    10.

                    rs1480376723 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      8:144498783 (GRCh38)
                      8:145724166 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:144498782:T:G
                      Gene:
                      PPP1R16A (Varview), LOC101928953 (Varview)
                      Functional Consequence:
                      synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000008.11:g.144498783T>G, NC_000008.10:g.145724166T>G, NM_032902.7:c.273T>G, NM_032902.6:c.273T>G, NM_032902.5:c.273T>G, NM_001329442.2:c.273T>G, NM_001329442.1:c.273T>G, NM_001329444.2:c.273T>G, NM_001329444.1:c.273T>G, NM_001329445.2:c.273T>G, NM_001329445.1:c.273T>G, NM_001329443.2:c.273T>G, NM_001329443.1:c.273T>G, XR_007061146.1:n.1019A>C, XR_007061150.1:n.1019A>C, XR_007061147.1:n.1019A>C, XM_047422337.1:c.495T>G, XM_047422338.1:c.495T>G, XM_047422334.1:c.495T>G, XM_047422335.1:c.495T>G, XM_047422336.1:c.495T>G, XM_047422332.1:c.495T>G, XM_047422331.1:c.495T>G, XM_047422341.1:c.306T>G, XM_047422342.1:c.306T>G, XM_047422345.1:c.273T>G, XM_047422340.1:c.306T>G, XM_047422343.1:c.273T>G, XM_047422350.1:c.84T>G, XM_047422339.1:c.495T>G, XM_047422351.1:c.84T>G, XM_047422349.1:c.84T>G, XM_047422348.1:c.84T>G, XM_047422347.1:c.84T>G, XM_047422346.1:c.273T>G, XM_047422352.1:c.84T>G

                      11.

                      rs1476098381 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        8:144500897 (GRCh38)
                        8:145726280 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:144500896:C:T
                        Gene:
                        PPP1R16A (Varview), LOC101928953 (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000008.11:g.144500897C>T, NC_000008.10:g.145726280C>T, NG_015828.1:g.1816C>T, NM_032902.7:c.963C>T, NM_032902.6:c.963C>T, NM_032902.5:c.963C>T, NM_001329442.2:c.963C>T, NM_001329442.1:c.963C>T, NM_001329444.2:c.963C>T, NM_001329444.1:c.963C>T, NM_001329445.2:c.963C>T, NM_001329445.1:c.963C>T, NM_001329443.2:c.963C>T, NM_001329443.1:c.963C>T, XM_047422337.1:c.1185C>T, XM_047422338.1:c.1185C>T, XM_047422334.1:c.1185C>T, XM_047422335.1:c.1185C>T, XM_047422336.1:c.1185C>T, XM_047422332.1:c.1185C>T, XM_047422331.1:c.1185C>T, XM_047422341.1:c.996C>T, XM_047422342.1:c.996C>T, XM_047422345.1:c.963C>T, XM_047422340.1:c.996C>T, XM_047422343.1:c.963C>T, XM_047422350.1:c.774C>T, XM_047422339.1:c.1185C>T, XM_047422351.1:c.774C>T, XM_047422349.1:c.774C>T, XM_047422348.1:c.774C>T, XM_047422347.1:c.774C>T, XM_047422346.1:c.963C>T, XM_047422352.1:c.774C>T

                        12.

                        rs1471675374 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          8:144501250 (GRCh38)
                          8:145726633 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:144501249:G:A
                          Gene:
                          GPT (Varview), PPP1R16A (Varview), LOC101928953 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000008.11:g.144501250G>A, NC_000008.10:g.145726633G>A, NG_015828.1:g.2169G>A, NM_032902.7:c.1159G>A, NM_032902.6:c.1159G>A, NM_032902.5:c.1159G>A, NM_001329442.2:c.1159G>A, NM_001329442.1:c.1159G>A, NM_001329444.2:c.1159G>A, NM_001329444.1:c.1159G>A, NM_001329445.2:c.1159G>A, NM_001329445.1:c.1159G>A, NM_001329443.2:c.1159G>A, NM_001329443.1:c.1159G>A, XM_047422337.1:c.1381G>A, XM_047422338.1:c.1381G>A, XM_047422334.1:c.1381G>A, XM_047422335.1:c.1381G>A, XM_047422336.1:c.1381G>A, XM_047422332.1:c.1381G>A, XM_047422331.1:c.1381G>A, XM_047422341.1:c.1192G>A, XM_047422342.1:c.1192G>A, XM_047422345.1:c.1159G>A, XM_047422340.1:c.1192G>A, XM_047422343.1:c.1159G>A, XM_047422350.1:c.970G>A, XM_047422339.1:c.1381G>A, XM_047422351.1:c.970G>A, XM_047422349.1:c.970G>A, XM_047422348.1:c.970G>A, XM_047422347.1:c.970G>A, XM_047422346.1:c.1159G>A, XM_047422352.1:c.970G>A, NP_116291.1:p.Asp387Asn, NP_001316371.1:p.Asp387Asn, NP_001316373.1:p.Asp387Asn, NP_001316374.1:p.Asp387Asn, NP_001316372.1:p.Asp387Asn, XP_047278293.1:p.Asp461Asn, XP_047278294.1:p.Asp461Asn, XP_047278290.1:p.Asp461Asn, XP_047278291.1:p.Asp461Asn, XP_047278292.1:p.Asp461Asn, XP_047278288.1:p.Asp461Asn, XP_047278287.1:p.Asp461Asn, XP_047278297.1:p.Asp398Asn, XP_047278298.1:p.Asp398Asn, XP_047278301.1:p.Asp387Asn, XP_047278296.1:p.Asp398Asn, XP_047278299.1:p.Asp387Asn, XP_047278306.1:p.Asp324Asn, XP_047278295.1:p.Asp461Asn, XP_047278307.1:p.Asp324Asn, XP_047278305.1:p.Asp324Asn, XP_047278304.1:p.Asp324Asn, XP_047278303.1:p.Asp324Asn, XP_047278302.1:p.Asp387Asn, XP_047278308.1:p.Asp324Asn

                          13.

                          rs1469894186 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:144500846 (GRCh38)
                            8:145726229 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:144500845:G:A
                            Gene:
                            PPP1R16A (Varview), LOC101928953 (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant,intron_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000005/1 (GnomAD_exomes)
                            HGVS:
                            NC_000008.11:g.144500846G>A, NC_000008.10:g.145726229G>A, NG_015828.1:g.1765G>A, NM_032902.7:c.912G>A, NM_032902.6:c.912G>A, NM_032902.5:c.912G>A, NM_001329442.2:c.912G>A, NM_001329442.1:c.912G>A, NM_001329444.2:c.912G>A, NM_001329444.1:c.912G>A, NM_001329445.2:c.912G>A, NM_001329445.1:c.912G>A, NM_001329443.2:c.912G>A, NM_001329443.1:c.912G>A, XM_047422337.1:c.1134G>A, XM_047422338.1:c.1134G>A, XM_047422334.1:c.1134G>A, XM_047422335.1:c.1134G>A, XM_047422336.1:c.1134G>A, XM_047422332.1:c.1134G>A, XM_047422331.1:c.1134G>A, XM_047422341.1:c.945G>A, XM_047422342.1:c.945G>A, XM_047422345.1:c.912G>A, XM_047422340.1:c.945G>A, XM_047422343.1:c.912G>A, XM_047422350.1:c.723G>A, XM_047422339.1:c.1134G>A, XM_047422351.1:c.723G>A, XM_047422349.1:c.723G>A, XM_047422348.1:c.723G>A, XM_047422347.1:c.723G>A, XM_047422346.1:c.912G>A, XM_047422352.1:c.723G>A

                            14.

                            rs1469558603 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              8:144497370 (GRCh38)
                              8:145722753 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:144497369:C:G,NC_000008.11:144497369:C:T
                              Gene:
                              PPP1R16A (Varview), LOC101928953 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              G=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000008.11:g.144497370C>G, NC_000008.11:g.144497370C>T, NC_000008.10:g.145722753C>G, NC_000008.10:g.145722753C>T, NM_032902.7:c.176C>G, NM_032902.7:c.176C>T, NM_032902.6:c.176C>G, NM_032902.6:c.176C>T, NM_032902.5:c.176C>G, NM_032902.5:c.176C>T, NM_001329442.2:c.176C>G, NM_001329442.2:c.176C>T, NM_001329442.1:c.176C>G, NM_001329442.1:c.176C>T, NM_001329444.2:c.176C>G, NM_001329444.2:c.176C>T, NM_001329444.1:c.176C>G, NM_001329444.1:c.176C>T, NM_001329445.2:c.176C>G, NM_001329445.2:c.176C>T, NM_001329445.1:c.176C>G, NM_001329445.1:c.176C>T, NM_001329443.2:c.176C>G, NM_001329443.2:c.176C>T, NM_001329443.1:c.176C>G, NM_001329443.1:c.176C>T, XR_007061146.1:n.1899G>C, XR_007061146.1:n.1899G>A, XR_007061150.1:n.1899G>C, XR_007061150.1:n.1899G>A, XR_007061147.1:n.1309G>C, XR_007061147.1:n.1309G>A, XR_007061148.1:n.1161G>C, XR_007061148.1:n.1161G>A, XR_007061149.1:n.744G>C, XR_007061149.1:n.744G>A, XM_047422337.1:c.176C>G, XM_047422337.1:c.176C>T, XM_047422338.1:c.176C>G, XM_047422338.1:c.176C>T, XM_047422334.1:c.176C>G, XM_047422334.1:c.176C>T, XM_047422335.1:c.176C>G, XM_047422335.1:c.176C>T, XM_047422336.1:c.176C>G, XM_047422336.1:c.176C>T, XM_047422332.1:c.176C>G, XM_047422332.1:c.176C>T, XM_047422331.1:c.176C>G, XM_047422331.1:c.176C>T, XM_047422345.1:c.176C>G, XM_047422345.1:c.176C>T, XM_047422343.1:c.176C>G, XM_047422343.1:c.176C>T, XM_047422339.1:c.176C>G, XM_047422339.1:c.176C>T, XM_047422346.1:c.176C>G, XM_047422346.1:c.176C>T, NP_116291.1:p.Ala59Gly, NP_116291.1:p.Ala59Val, NP_001316371.1:p.Ala59Gly, NP_001316371.1:p.Ala59Val, NP_001316373.1:p.Ala59Gly, NP_001316373.1:p.Ala59Val, NP_001316374.1:p.Ala59Gly, NP_001316374.1:p.Ala59Val, NP_001316372.1:p.Ala59Gly, NP_001316372.1:p.Ala59Val, XP_047278293.1:p.Ala59Gly, XP_047278293.1:p.Ala59Val, XP_047278294.1:p.Ala59Gly, XP_047278294.1:p.Ala59Val, XP_047278290.1:p.Ala59Gly, XP_047278290.1:p.Ala59Val, XP_047278291.1:p.Ala59Gly, XP_047278291.1:p.Ala59Val, XP_047278292.1:p.Ala59Gly, XP_047278292.1:p.Ala59Val, XP_047278288.1:p.Ala59Gly, XP_047278288.1:p.Ala59Val, XP_047278287.1:p.Ala59Gly, XP_047278287.1:p.Ala59Val, XP_047278301.1:p.Ala59Gly, XP_047278301.1:p.Ala59Val, XP_047278299.1:p.Ala59Gly, XP_047278299.1:p.Ala59Val, XP_047278295.1:p.Ala59Gly, XP_047278295.1:p.Ala59Val, XP_047278302.1:p.Ala59Gly, XP_047278302.1:p.Ala59Val

                              15.

                              rs1469402566 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:144500326 (GRCh38)
                                8:145725709 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:144500325:G:A
                                Gene:
                                PPP1R16A (Varview), LOC101928953 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant,intron_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000008/2 (TOPMED)
                                A=0.000014/2 (GnomAD_exomes)
                                HGVS:
                                NC_000008.11:g.144500326G>A, NC_000008.10:g.145725709G>A, NG_015828.1:g.1245G>A, NM_032902.7:c.640G>A, NM_032902.6:c.640G>A, NM_032902.5:c.640G>A, NM_001329442.2:c.640G>A, NM_001329442.1:c.640G>A, NM_001329444.2:c.640G>A, NM_001329444.1:c.640G>A, NM_001329445.2:c.640G>A, NM_001329445.1:c.640G>A, NM_001329443.2:c.640G>A, NM_001329443.1:c.640G>A, XM_047422337.1:c.862G>A, XM_047422338.1:c.862G>A, XM_047422334.1:c.862G>A, XM_047422335.1:c.862G>A, XM_047422336.1:c.862G>A, XM_047422332.1:c.862G>A, XM_047422331.1:c.862G>A, XM_047422341.1:c.673G>A, XM_047422342.1:c.673G>A, XM_047422345.1:c.640G>A, XM_047422340.1:c.673G>A, XM_047422343.1:c.640G>A, XM_047422350.1:c.451G>A, XM_047422339.1:c.862G>A, XM_047422351.1:c.451G>A, XM_047422349.1:c.451G>A, XM_047422348.1:c.451G>A, XM_047422347.1:c.451G>A, XM_047422346.1:c.640G>A, XM_047422352.1:c.451G>A, NP_116291.1:p.Asp214Asn, NP_001316371.1:p.Asp214Asn, NP_001316373.1:p.Asp214Asn, NP_001316374.1:p.Asp214Asn, NP_001316372.1:p.Asp214Asn, XP_047278293.1:p.Asp288Asn, XP_047278294.1:p.Asp288Asn, XP_047278290.1:p.Asp288Asn, XP_047278291.1:p.Asp288Asn, XP_047278292.1:p.Asp288Asn, XP_047278288.1:p.Asp288Asn, XP_047278287.1:p.Asp288Asn, XP_047278297.1:p.Asp225Asn, XP_047278298.1:p.Asp225Asn, XP_047278301.1:p.Asp214Asn, XP_047278296.1:p.Asp225Asn, XP_047278299.1:p.Asp214Asn, XP_047278306.1:p.Asp151Asn, XP_047278295.1:p.Asp288Asn, XP_047278307.1:p.Asp151Asn, XP_047278305.1:p.Asp151Asn, XP_047278304.1:p.Asp151Asn, XP_047278303.1:p.Asp151Asn, XP_047278302.1:p.Asp214Asn, XP_047278308.1:p.Asp151Asn

                                16.

                                rs1469157065 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  8:144501873 (GRCh38)
                                  8:145727256 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:144501872:G:T
                                  Gene:
                                  GPT (Varview), PPP1R16A (Varview), LOC101928953 (Varview)
                                  Functional Consequence:
                                  intron_variant,synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  T=0.000007/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.144501873G>T, NC_000008.10:g.145727256G>T, NG_015828.1:g.2792G>T, NM_032902.7:c.1557G>T, NM_032902.6:c.1557G>T, NM_032902.5:c.1557G>T, NM_001329442.2:c.1557G>T, NM_001329442.1:c.1557G>T, NM_001329444.2:c.1557G>T, NM_001329444.1:c.1557G>T, NM_001329445.2:c.1557G>T, NM_001329445.1:c.1557G>T, NM_001329443.2:c.1557G>T, NM_001329443.1:c.1557G>T, XM_047422337.1:c.1779G>T, XM_047422338.1:c.1779G>T, XM_047422334.1:c.1779G>T, XM_047422335.1:c.1779G>T, XM_047422336.1:c.1779G>T, XM_047422332.1:c.1779G>T, XM_047422331.1:c.1779G>T, XM_047422341.1:c.1590G>T, XM_047422342.1:c.1590G>T, XM_047422345.1:c.1557G>T, XM_047422340.1:c.1590G>T, XM_047422343.1:c.1557G>T, XM_047422350.1:c.1368G>T, XM_047422339.1:c.1779G>T, XM_047422351.1:c.1368G>T, XM_047422349.1:c.1368G>T, XM_047422348.1:c.1368G>T, XM_047422347.1:c.1368G>T, XM_047422346.1:c.1557G>T, XM_047422352.1:c.1368G>T

                                  17.

                                  rs1468340770 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>G [Show Flanks]
                                    Chromosome:
                                    8:144500148 (GRCh38)
                                    8:145725531 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:144500147:T:G
                                    Gene:
                                    PPP1R16A (Varview), LOC101928953 (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0./0 (ALFA)
                                    HGVS:
                                    NC_000008.11:g.144500148T>G, NC_000008.10:g.145725531T>G, NG_015828.1:g.1067T>G, NM_032902.7:c.529T>G, NM_032902.6:c.529T>G, NM_032902.5:c.529T>G, NM_001329442.2:c.529T>G, NM_001329442.1:c.529T>G, NM_001329444.2:c.529T>G, NM_001329444.1:c.529T>G, NM_001329445.2:c.529T>G, NM_001329445.1:c.529T>G, NM_001329443.2:c.529T>G, NM_001329443.1:c.529T>G, XM_047422337.1:c.751T>G, XM_047422338.1:c.751T>G, XM_047422334.1:c.751T>G, XM_047422335.1:c.751T>G, XM_047422336.1:c.751T>G, XM_047422332.1:c.751T>G, XM_047422331.1:c.751T>G, XM_047422341.1:c.562T>G, XM_047422342.1:c.562T>G, XM_047422345.1:c.529T>G, XM_047422340.1:c.562T>G, XM_047422343.1:c.529T>G, XM_047422350.1:c.340T>G, XM_047422339.1:c.751T>G, XM_047422351.1:c.340T>G, XM_047422349.1:c.340T>G, XM_047422348.1:c.340T>G, XM_047422347.1:c.340T>G, XM_047422346.1:c.529T>G, XM_047422352.1:c.340T>G, NP_116291.1:p.Cys177Gly, NP_001316371.1:p.Cys177Gly, NP_001316373.1:p.Cys177Gly, NP_001316374.1:p.Cys177Gly, NP_001316372.1:p.Cys177Gly, XP_047278293.1:p.Cys251Gly, XP_047278294.1:p.Cys251Gly, XP_047278290.1:p.Cys251Gly, XP_047278291.1:p.Cys251Gly, XP_047278292.1:p.Cys251Gly, XP_047278288.1:p.Cys251Gly, XP_047278287.1:p.Cys251Gly, XP_047278297.1:p.Cys188Gly, XP_047278298.1:p.Cys188Gly, XP_047278301.1:p.Cys177Gly, XP_047278296.1:p.Cys188Gly, XP_047278299.1:p.Cys177Gly, XP_047278306.1:p.Cys114Gly, XP_047278295.1:p.Cys251Gly, XP_047278307.1:p.Cys114Gly, XP_047278305.1:p.Cys114Gly, XP_047278304.1:p.Cys114Gly, XP_047278303.1:p.Cys114Gly, XP_047278302.1:p.Cys177Gly, XP_047278308.1:p.Cys114Gly

                                    18.

                                    rs1467344052 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      8:144501671 (GRCh38)
                                      8:145727054 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:144501670:C:G
                                      Gene:
                                      GPT (Varview), PPP1R16A (Varview), LOC101928953 (Varview)
                                      Functional Consequence:
                                      intron_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000008.11:g.144501671C>G, NC_000008.10:g.145727054C>G, NG_015828.1:g.2590C>G, NM_032902.7:c.1355C>G, NM_032902.6:c.1355C>G, NM_032902.5:c.1355C>G, NM_001329442.2:c.1355C>G, NM_001329442.1:c.1355C>G, NM_001329444.2:c.1355C>G, NM_001329444.1:c.1355C>G, NM_001329445.2:c.1355C>G, NM_001329445.1:c.1355C>G, NM_001329443.2:c.1355C>G, NM_001329443.1:c.1355C>G, XM_047422337.1:c.1577C>G, XM_047422338.1:c.1577C>G, XM_047422334.1:c.1577C>G, XM_047422335.1:c.1577C>G, XM_047422336.1:c.1577C>G, XM_047422332.1:c.1577C>G, XM_047422331.1:c.1577C>G, XM_047422341.1:c.1388C>G, XM_047422342.1:c.1388C>G, XM_047422345.1:c.1355C>G, XM_047422340.1:c.1388C>G, XM_047422343.1:c.1355C>G, XM_047422350.1:c.1166C>G, XM_047422339.1:c.1577C>G, XM_047422351.1:c.1166C>G, XM_047422349.1:c.1166C>G, XM_047422348.1:c.1166C>G, XM_047422347.1:c.1166C>G, XM_047422346.1:c.1355C>G, XM_047422352.1:c.1166C>G, NP_116291.1:p.Ala452Gly, NP_001316371.1:p.Ala452Gly, NP_001316373.1:p.Ala452Gly, NP_001316374.1:p.Ala452Gly, NP_001316372.1:p.Ala452Gly, XP_047278293.1:p.Ala526Gly, XP_047278294.1:p.Ala526Gly, XP_047278290.1:p.Ala526Gly, XP_047278291.1:p.Ala526Gly, XP_047278292.1:p.Ala526Gly, XP_047278288.1:p.Ala526Gly, XP_047278287.1:p.Ala526Gly, XP_047278297.1:p.Ala463Gly, XP_047278298.1:p.Ala463Gly, XP_047278301.1:p.Ala452Gly, XP_047278296.1:p.Ala463Gly, XP_047278299.1:p.Ala452Gly, XP_047278306.1:p.Ala389Gly, XP_047278295.1:p.Ala526Gly, XP_047278307.1:p.Ala389Gly, XP_047278305.1:p.Ala389Gly, XP_047278304.1:p.Ala389Gly, XP_047278303.1:p.Ala389Gly, XP_047278302.1:p.Ala452Gly, XP_047278308.1:p.Ala389Gly

                                      19.

                                      rs1466934165 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        8:144500906 (GRCh38)
                                        8:145726289 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:144500905:C:G
                                        Gene:
                                        PPP1R16A (Varview), LOC101928953 (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant,intron_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000008.11:g.144500906C>G, NC_000008.10:g.145726289C>G, NG_015828.1:g.1825C>G, NM_032902.7:c.972C>G, NM_032902.6:c.972C>G, NM_032902.5:c.972C>G, NM_001329442.2:c.972C>G, NM_001329442.1:c.972C>G, NM_001329444.2:c.972C>G, NM_001329444.1:c.972C>G, NM_001329445.2:c.972C>G, NM_001329445.1:c.972C>G, NM_001329443.2:c.972C>G, NM_001329443.1:c.972C>G, XM_047422337.1:c.1194C>G, XM_047422338.1:c.1194C>G, XM_047422334.1:c.1194C>G, XM_047422335.1:c.1194C>G, XM_047422336.1:c.1194C>G, XM_047422332.1:c.1194C>G, XM_047422331.1:c.1194C>G, XM_047422341.1:c.1005C>G, XM_047422342.1:c.1005C>G, XM_047422345.1:c.972C>G, XM_047422340.1:c.1005C>G, XM_047422343.1:c.972C>G, XM_047422350.1:c.783C>G, XM_047422339.1:c.1194C>G, XM_047422351.1:c.783C>G, XM_047422349.1:c.783C>G, XM_047422348.1:c.783C>G, XM_047422347.1:c.783C>G, XM_047422346.1:c.972C>G, XM_047422352.1:c.783C>G

                                        20.

                                        rs1466912901 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          8:144498945 (GRCh38)
                                          8:145724328 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:144498944:G:C
                                          Gene:
                                          PPP1R16A (Varview), LOC101928953 (Varview)
                                          Functional Consequence:
                                          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency,by alfa
                                          MAF:
                                          C=0.000111/1 (ALFA)
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000008.11:g.144498945G>C, NC_000008.10:g.145724328G>C, NM_032902.7:c.360G>C, NM_032902.6:c.360G>C, NM_032902.5:c.360G>C, NM_001329442.2:c.360G>C, NM_001329442.1:c.360G>C, NM_001329444.2:c.360G>C, NM_001329444.1:c.360G>C, NM_001329445.2:c.360G>C, NM_001329445.1:c.360G>C, NM_001329443.2:c.360G>C, NM_001329443.1:c.360G>C, XR_007061146.1:n.857C>G, XR_007061150.1:n.857C>G, XR_007061147.1:n.857C>G, XR_007061148.1:n.857C>G, XR_007061149.1:n.440C>G, XM_047422337.1:c.582G>C, XM_047422338.1:c.582G>C, XM_047422334.1:c.582G>C, XM_047422335.1:c.582G>C, XM_047422336.1:c.582G>C, XM_047422332.1:c.582G>C, XM_047422331.1:c.582G>C, XM_047422341.1:c.393G>C, XM_047422342.1:c.393G>C, XM_047422345.1:c.360G>C, XM_047422340.1:c.393G>C, XM_047422343.1:c.360G>C, XM_047422350.1:c.171G>C, XM_047422339.1:c.582G>C, XM_047422351.1:c.171G>C, XM_047422349.1:c.171G>C, XM_047422348.1:c.171G>C, XM_047422347.1:c.171G>C, XM_047422346.1:c.360G>C, XM_047422352.1:c.171G>C

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