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Items: 1 to 20 of 236

1.

rs1489213845 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:151027259 (GRCh38)
    1:150999735 (GRCh37)
    Canonical SPDI:
    NC_000001.11:151027258:A:G
    Gene:
    PRUNE1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0./0 (ALFA)
    G=0.000008/2 (TOPMED)
    G=0.000014/2 (GnomAD)
    HGVS:
    NC_000001.11:g.151027259A>G, NC_000001.10:g.150999735A>G, NG_052875.1:g.23869A>G, NM_021222.3:c.706A>G, NM_021222.2:c.706A>G, NM_021222.1:c.706A>G, NM_001303242.2:c.706A>G, NM_001303242.1:c.706A>G, NM_001303229.2:c.160A>G, NM_001303229.1:c.160A>G, NM_001303243.2:c.103A>G, NM_001303243.1:c.103A>G, NR_130135.2:n.502A>G, NR_130135.1:n.560A>G, NR_130131.2:n.343A>G, NR_130131.1:n.401A>G, NR_130130.2:n.409A>G, NR_130130.1:n.467A>G, NR_130132.2:n.343A>G, NR_130132.1:n.401A>G, XM_005245393.6:c.616A>G, XM_005245393.5:c.616A>G, XM_005245393.4:c.616A>G, XM_005245393.3:c.616A>G, XM_005245393.2:c.616A>G, XM_005245393.1:c.616A>G, XM_017001955.3:c.616A>G, XM_017001955.2:c.616A>G, XM_017001955.1:c.616A>G, XM_011509832.3:c.160A>G, XM_011509832.2:c.160A>G, XM_011509832.1:c.160A>G, XM_047426607.1:c.160A>G, XM_047426610.1:c.103A>G, NP_067045.1:p.Lys236Glu, NP_001290171.1:p.Lys236Glu, NP_001290158.1:p.Lys54Glu, NP_001290172.1:p.Lys35Glu, XP_005245450.1:p.Lys206Glu, XP_016857444.1:p.Lys206Glu, XP_011508134.1:p.Lys54Glu, XP_047282563.1:p.Lys54Glu, XP_047282566.1:p.Lys35Glu

    2.

    rs1487546795 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      1:151033929 (GRCh38)
      1:151006405 (GRCh37)
      Canonical SPDI:
      NC_000001.11:151033928:C:G
      Gene:
      PRUNE1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa
      MAF:
      G=0./0 (ALFA)
      HGVS:
      NC_000001.11:g.151033929C>G, NC_000001.10:g.151006405C>G, NG_052875.1:g.30539C>G, NM_021222.3:c.1057C>G, NM_021222.2:c.1057C>G, NM_021222.1:c.1057C>G, NM_001303242.2:c.898C>G, NM_001303242.1:c.898C>G, NM_001303229.2:c.511C>G, NM_001303229.1:c.511C>G, NM_001303243.2:c.454C>G, NM_001303243.1:c.454C>G, NR_130135.2:n.694C>G, NR_130135.1:n.752C>G, NR_130131.2:n.694C>G, NR_130131.1:n.752C>G, NR_130130.2:n.601C>G, NR_130130.1:n.659C>G, NR_130132.2:n.535C>G, NR_130132.1:n.593C>G, NG_029720.1:g.2377C>G, XM_005245393.6:c.967C>G, XM_005245393.5:c.967C>G, XM_005245393.4:c.967C>G, XM_005245393.3:c.967C>G, XM_005245393.2:c.967C>G, XM_005245393.1:c.967C>G, XM_017001955.3:c.808C>G, XM_017001955.2:c.808C>G, XM_017001955.1:c.808C>G, XM_011509832.3:c.511C>G, XM_011509832.2:c.511C>G, XM_011509832.1:c.511C>G, XM_047426607.1:c.511C>G, XM_047426610.1:c.454C>G, NP_067045.1:p.Pro353Ala, NP_001290171.1:p.Pro300Ala, NP_001290158.1:p.Pro171Ala, NP_001290172.1:p.Pro152Ala, XP_005245450.1:p.Pro323Ala, XP_016857444.1:p.Pro270Ala, XP_011508134.1:p.Pro171Ala, XP_047282563.1:p.Pro171Ala, XP_047282566.1:p.Pro152Ala

      3.

      rs1486602623 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:151034048 (GRCh38)
        1:151006524 (GRCh37)
        Canonical SPDI:
        NC_000001.11:151034047:C:T
        Gene:
        PRUNE1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by cluster
        MAF:
        T=0./0 (GnomAD)
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.151034048C>T, NC_000001.10:g.151006524C>T, NG_052875.1:g.30658C>T, NM_021222.3:c.1176C>T, NM_021222.2:c.1176C>T, NM_021222.1:c.1176C>T, NM_001303242.2:c.1017C>T, NM_001303242.1:c.1017C>T, NM_001303229.2:c.630C>T, NM_001303229.1:c.630C>T, NM_001303243.2:c.573C>T, NM_001303243.1:c.573C>T, NR_130135.2:n.813C>T, NR_130135.1:n.871C>T, NR_130131.2:n.813C>T, NR_130131.1:n.871C>T, NR_130130.2:n.720C>T, NR_130130.1:n.778C>T, NR_130132.2:n.654C>T, NR_130132.1:n.712C>T, NG_029720.1:g.2496C>T, XM_005245393.6:c.1086C>T, XM_005245393.5:c.1086C>T, XM_005245393.4:c.1086C>T, XM_005245393.3:c.1086C>T, XM_005245393.2:c.1086C>T, XM_005245393.1:c.1086C>T, XM_017001955.3:c.927C>T, XM_017001955.2:c.927C>T, XM_017001955.1:c.927C>T, XM_011509832.3:c.630C>T, XM_011509832.2:c.630C>T, XM_011509832.1:c.630C>T, XM_047426607.1:c.630C>T, XM_047426610.1:c.573C>T

        4.

        rs1474222971 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          1:151027281 (GRCh38)
          1:150999757 (GRCh37)
          Canonical SPDI:
          NC_000001.11:151027280:G:A
          Gene:
          PRUNE1 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000001.11:g.151027281G>A, NC_000001.10:g.150999757G>A, NG_052875.1:g.23891G>A, NM_021222.3:c.728G>A, NM_021222.2:c.728G>A, NM_021222.1:c.728G>A, NM_001303242.2:c.728G>A, NM_001303242.1:c.728G>A, NM_001303229.2:c.182G>A, NM_001303229.1:c.182G>A, NM_001303243.2:c.125G>A, NM_001303243.1:c.125G>A, NR_130135.2:n.524G>A, NR_130135.1:n.582G>A, NR_130131.2:n.365G>A, NR_130131.1:n.423G>A, NR_130130.2:n.431G>A, NR_130130.1:n.489G>A, NR_130132.2:n.365G>A, NR_130132.1:n.423G>A, XM_005245393.6:c.638G>A, XM_005245393.5:c.638G>A, XM_005245393.4:c.638G>A, XM_005245393.3:c.638G>A, XM_005245393.2:c.638G>A, XM_005245393.1:c.638G>A, XM_017001955.3:c.638G>A, XM_017001955.2:c.638G>A, XM_017001955.1:c.638G>A, XM_011509832.3:c.182G>A, XM_011509832.2:c.182G>A, XM_011509832.1:c.182G>A, XM_047426607.1:c.182G>A, XM_047426610.1:c.125G>A, NP_067045.1:p.Arg243Lys, NP_001290171.1:p.Arg243Lys, NP_001290158.1:p.Arg61Lys, NP_001290172.1:p.Arg42Lys, XP_005245450.1:p.Arg213Lys, XP_016857444.1:p.Arg213Lys, XP_011508134.1:p.Arg61Lys, XP_047282563.1:p.Arg61Lys, XP_047282566.1:p.Arg42Lys

          5.

          rs1472479308 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:151028866 (GRCh38)
            1:151001342 (GRCh37)
            Canonical SPDI:
            NC_000001.11:151028865:G:A
            Gene:
            PRUNE1 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000094/1 (ALFA)
            A=0.000004/1 (GnomAD_exomes)
            A=0.000008/2 (TOPMED)
            HGVS:

            6.

            rs1470980177 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              1:151034158 (GRCh38)
              1:151006634 (GRCh37)
              Canonical SPDI:
              NC_000001.11:151034157:C:T
              Gene:
              PRUNE1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.151034158C>T, NC_000001.10:g.151006634C>T, NG_052875.1:g.30768C>T, NM_021222.3:c.1286C>T, NM_021222.2:c.1286C>T, NM_021222.1:c.1286C>T, NM_001303242.2:c.1127C>T, NM_001303242.1:c.1127C>T, NM_001303229.2:c.740C>T, NM_001303229.1:c.740C>T, NM_001303243.2:c.683C>T, NM_001303243.1:c.683C>T, NR_130135.2:n.923C>T, NR_130135.1:n.981C>T, NR_130131.2:n.923C>T, NR_130131.1:n.981C>T, NR_130130.2:n.830C>T, NR_130130.1:n.888C>T, NR_130132.2:n.764C>T, NR_130132.1:n.822C>T, NG_029720.1:g.2606C>T, XM_005245393.6:c.1196C>T, XM_005245393.5:c.1196C>T, XM_005245393.4:c.1196C>T, XM_005245393.3:c.1196C>T, XM_005245393.2:c.1196C>T, XM_005245393.1:c.1196C>T, XM_017001955.3:c.1037C>T, XM_017001955.2:c.1037C>T, XM_017001955.1:c.1037C>T, XM_011509832.3:c.740C>T, XM_011509832.2:c.740C>T, XM_011509832.1:c.740C>T, XM_047426607.1:c.740C>T, XM_047426610.1:c.683C>T, NP_067045.1:p.Ser429Phe, NP_001290171.1:p.Ser376Phe, NP_001290158.1:p.Ser247Phe, NP_001290172.1:p.Ser228Phe, XP_005245450.1:p.Ser399Phe, XP_016857444.1:p.Ser346Phe, XP_011508134.1:p.Ser247Phe, XP_047282563.1:p.Ser247Phe, XP_047282566.1:p.Ser228Phe

              7.

              rs1468790445 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                1:151025572 (GRCh38)
                1:150998048 (GRCh37)
                Canonical SPDI:
                NC_000001.11:151025571:A:G
                Gene:
                PRUNE1 (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)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000001.11:g.151025572A>G, NC_000001.10:g.150998048A>G, NG_052875.1:g.22182A>G, NM_021222.3:c.578A>G, NM_021222.2:c.578A>G, NM_021222.1:c.578A>G, NM_001303242.2:c.578A>G, NM_001303242.1:c.578A>G, NM_001303229.2:c.32A>G, NM_001303229.1:c.32A>G, NR_130135.2:n.374A>G, NR_130135.1:n.432A>G, NR_130130.2:n.281A>G, NR_130130.1:n.339A>G, XM_005245393.6:c.488A>G, XM_005245393.5:c.488A>G, XM_005245393.4:c.488A>G, XM_005245393.3:c.488A>G, XM_005245393.2:c.488A>G, XM_005245393.1:c.488A>G, XM_017001955.3:c.488A>G, XM_017001955.2:c.488A>G, XM_017001955.1:c.488A>G, XM_011509832.3:c.32A>G, XM_011509832.2:c.32A>G, XM_011509832.1:c.32A>G, XM_047426607.1:c.32A>G, NP_067045.1:p.Lys193Arg, NP_001290171.1:p.Lys193Arg, NP_001290158.1:p.Lys11Arg, XP_005245450.1:p.Lys163Arg, XP_016857444.1:p.Lys163Arg, XP_011508134.1:p.Lys11Arg, XP_047282563.1:p.Lys11Arg

                8.

                rs1467703162 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>T [Show Flanks]
                  Chromosome:
                  1:151027233 (GRCh38)
                  1:150999709 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:151027232:G:T
                  Gene:
                  PRUNE1 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000001.11:g.151027233G>T, NC_000001.10:g.150999709G>T, NG_052875.1:g.23843G>T, NM_021222.3:c.680G>T, NM_021222.2:c.680G>T, NM_021222.1:c.680G>T, NM_001303242.2:c.680G>T, NM_001303242.1:c.680G>T, NM_001303229.2:c.134G>T, NM_001303229.1:c.134G>T, NM_001303243.2:c.77G>T, NM_001303243.1:c.77G>T, NR_130135.2:n.476G>T, NR_130135.1:n.534G>T, NR_130131.2:n.317G>T, NR_130131.1:n.375G>T, NR_130130.2:n.383G>T, NR_130130.1:n.441G>T, NR_130132.2:n.317G>T, NR_130132.1:n.375G>T, XM_005245393.6:c.590G>T, XM_005245393.5:c.590G>T, XM_005245393.4:c.590G>T, XM_005245393.3:c.590G>T, XM_005245393.2:c.590G>T, XM_005245393.1:c.590G>T, XM_017001955.3:c.590G>T, XM_017001955.2:c.590G>T, XM_017001955.1:c.590G>T, XM_011509832.3:c.134G>T, XM_011509832.2:c.134G>T, XM_011509832.1:c.134G>T, XM_047426607.1:c.134G>T, XM_047426610.1:c.77G>T, NP_067045.1:p.Gly227Val, NP_001290171.1:p.Gly227Val, NP_001290158.1:p.Gly45Val, NP_001290172.1:p.Arg26Ile, XP_005245450.1:p.Gly197Val, XP_016857444.1:p.Gly197Val, XP_011508134.1:p.Gly45Val, XP_047282563.1:p.Gly45Val, XP_047282566.1:p.Arg26Ile

                  9.

                  rs1464110523 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:151027308 (GRCh38)
                    1:150999784 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:151027307:C:T
                    Gene:
                    PRUNE1 (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000008/2 (GnomAD_exomes)
                    HGVS:
                    NC_000001.11:g.151027308C>T, NC_000001.10:g.150999784C>T, NG_052875.1:g.23918C>T, NM_021222.3:c.755C>T, NM_021222.2:c.755C>T, NM_021222.1:c.755C>T, NM_001303242.2:c.755C>T, NM_001303242.1:c.755C>T, NM_001303229.2:c.209C>T, NM_001303229.1:c.209C>T, NM_001303243.2:c.152C>T, NM_001303243.1:c.152C>T, NR_130135.2:n.551C>T, NR_130135.1:n.609C>T, NR_130131.2:n.392C>T, NR_130131.1:n.450C>T, NR_130130.2:n.458C>T, NR_130130.1:n.516C>T, NR_130132.2:n.392C>T, NR_130132.1:n.450C>T, XM_005245393.6:c.665C>T, XM_005245393.5:c.665C>T, XM_005245393.4:c.665C>T, XM_005245393.3:c.665C>T, XM_005245393.2:c.665C>T, XM_005245393.1:c.665C>T, XM_017001955.3:c.665C>T, XM_017001955.2:c.665C>T, XM_017001955.1:c.665C>T, XM_011509832.3:c.209C>T, XM_011509832.2:c.209C>T, XM_011509832.1:c.209C>T, XM_047426607.1:c.209C>T, XM_047426610.1:c.152C>T, NP_067045.1:p.Ala252Val, NP_001290171.1:p.Ala252Val, NP_001290158.1:p.Ala70Val, NP_001290172.1:p.Ala51Val, XP_005245450.1:p.Ala222Val, XP_016857444.1:p.Ala222Val, XP_011508134.1:p.Ala70Val, XP_047282563.1:p.Ala70Val, XP_047282566.1:p.Ala51Val

                    10.

                    rs1459188094 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      1:151028803 (GRCh38)
                      1:151001279 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:151028802:T:C
                      Gene:
                      PRUNE1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:

                      11.

                      rs1454422574 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G [Show Flanks]
                        Chromosome:
                        1:151034084 (GRCh38)
                        1:151006560 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:151034083:C:G
                        Gene:
                        PRUNE1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant,non_coding_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000001.11:g.151034084C>G, NC_000001.10:g.151006560C>G, NG_052875.1:g.30694C>G, NM_021222.3:c.1212C>G, NM_021222.2:c.1212C>G, NM_021222.1:c.1212C>G, NM_001303242.2:c.1053C>G, NM_001303242.1:c.1053C>G, NM_001303229.2:c.666C>G, NM_001303229.1:c.666C>G, NM_001303243.2:c.609C>G, NM_001303243.1:c.609C>G, NR_130135.2:n.849C>G, NR_130135.1:n.907C>G, NR_130131.2:n.849C>G, NR_130131.1:n.907C>G, NR_130130.2:n.756C>G, NR_130130.1:n.814C>G, NR_130132.2:n.690C>G, NR_130132.1:n.748C>G, NG_029720.1:g.2532C>G, XM_005245393.6:c.1122C>G, XM_005245393.5:c.1122C>G, XM_005245393.4:c.1122C>G, XM_005245393.3:c.1122C>G, XM_005245393.2:c.1122C>G, XM_005245393.1:c.1122C>G, XM_017001955.3:c.963C>G, XM_017001955.2:c.963C>G, XM_017001955.1:c.963C>G, XM_011509832.3:c.666C>G, XM_011509832.2:c.666C>G, XM_011509832.1:c.666C>G, XM_047426607.1:c.666C>G, XM_047426610.1:c.609C>G, NP_067045.1:p.Asp404Glu, NP_001290171.1:p.Asp351Glu, NP_001290158.1:p.Asp222Glu, NP_001290172.1:p.Asp203Glu, XP_005245450.1:p.Asp374Glu, XP_016857444.1:p.Asp321Glu, XP_011508134.1:p.Asp222Glu, XP_047282563.1:p.Asp222Glu, XP_047282566.1:p.Asp203Glu

                        12.

                        rs1450773436 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,T [Show Flanks]
                          Chromosome:
                          1:151033842 (GRCh38)
                          1:151006318 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:151033841:C:A,NC_000001.11:151033841:C:T
                          Gene:
                          PRUNE1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0./0 (ALFA)
                          A=0.000004/1 (GnomAD_exomes)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.151033842C>A, NC_000001.11:g.151033842C>T, NC_000001.10:g.151006318C>A, NC_000001.10:g.151006318C>T, NG_052875.1:g.30452C>A, NG_052875.1:g.30452C>T, NM_021222.3:c.970C>A, NM_021222.3:c.970C>T, NM_021222.2:c.970C>A, NM_021222.2:c.970C>T, NM_021222.1:c.970C>A, NM_021222.1:c.970C>T, NM_001303242.2:c.811C>A, NM_001303242.2:c.811C>T, NM_001303242.1:c.811C>A, NM_001303242.1:c.811C>T, NM_001303229.2:c.424C>A, NM_001303229.2:c.424C>T, NM_001303229.1:c.424C>A, NM_001303229.1:c.424C>T, NM_001303243.2:c.367C>A, NM_001303243.2:c.367C>T, NM_001303243.1:c.367C>A, NM_001303243.1:c.367C>T, NR_130135.2:n.607C>A, NR_130135.2:n.607C>T, NR_130135.1:n.665C>A, NR_130135.1:n.665C>T, NR_130131.2:n.607C>A, NR_130131.2:n.607C>T, NR_130131.1:n.665C>A, NR_130131.1:n.665C>T, NR_130130.2:n.514C>A, NR_130130.2:n.514C>T, NR_130130.1:n.572C>A, NR_130130.1:n.572C>T, NR_130132.2:n.448C>A, NR_130132.2:n.448C>T, NR_130132.1:n.506C>A, NR_130132.1:n.506C>T, NG_029720.1:g.2290C>A, NG_029720.1:g.2290C>T, XM_005245393.6:c.880C>A, XM_005245393.6:c.880C>T, XM_005245393.5:c.880C>A, XM_005245393.5:c.880C>T, XM_005245393.4:c.880C>A, XM_005245393.4:c.880C>T, XM_005245393.3:c.880C>A, XM_005245393.3:c.880C>T, XM_005245393.2:c.880C>A, XM_005245393.2:c.880C>T, XM_005245393.1:c.880C>A, XM_005245393.1:c.880C>T, XM_017001955.3:c.721C>A, XM_017001955.3:c.721C>T, XM_017001955.2:c.721C>A, XM_017001955.2:c.721C>T, XM_017001955.1:c.721C>A, XM_017001955.1:c.721C>T, XM_011509832.3:c.424C>A, XM_011509832.3:c.424C>T, XM_011509832.2:c.424C>A, XM_011509832.2:c.424C>T, XM_011509832.1:c.424C>A, XM_011509832.1:c.424C>T, XM_047426607.1:c.424C>A, XM_047426607.1:c.424C>T, XM_047426610.1:c.367C>A, XM_047426610.1:c.367C>T, NP_067045.1:p.Leu324Met, NP_001290171.1:p.Leu271Met, NP_001290158.1:p.Leu142Met, NP_001290172.1:p.Leu123Met, XP_005245450.1:p.Leu294Met, XP_016857444.1:p.Leu241Met, XP_011508134.1:p.Leu142Met, XP_047282563.1:p.Leu142Met, XP_047282566.1:p.Leu123Met

                          13.

                          rs1444483626 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            1:151027296 (GRCh38)
                            1:150999772 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:151027295:T:C
                            Gene:
                            PRUNE1 (Varview)
                            Functional Consequence:
                            non_coding_transcript_variant,coding_sequence_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000001.11:g.151027296T>C, NC_000001.10:g.150999772T>C, NG_052875.1:g.23906T>C, NM_021222.3:c.743T>C, NM_021222.2:c.743T>C, NM_021222.1:c.743T>C, NM_001303242.2:c.743T>C, NM_001303242.1:c.743T>C, NM_001303229.2:c.197T>C, NM_001303229.1:c.197T>C, NM_001303243.2:c.140T>C, NM_001303243.1:c.140T>C, NR_130135.2:n.539T>C, NR_130135.1:n.597T>C, NR_130131.2:n.380T>C, NR_130131.1:n.438T>C, NR_130130.2:n.446T>C, NR_130130.1:n.504T>C, NR_130132.2:n.380T>C, NR_130132.1:n.438T>C, XM_005245393.6:c.653T>C, XM_005245393.5:c.653T>C, XM_005245393.4:c.653T>C, XM_005245393.3:c.653T>C, XM_005245393.2:c.653T>C, XM_005245393.1:c.653T>C, XM_017001955.3:c.653T>C, XM_017001955.2:c.653T>C, XM_017001955.1:c.653T>C, XM_011509832.3:c.197T>C, XM_011509832.2:c.197T>C, XM_011509832.1:c.197T>C, XM_047426607.1:c.197T>C, XM_047426610.1:c.140T>C, NP_067045.1:p.Val248Ala, NP_001290171.1:p.Val248Ala, NP_001290158.1:p.Val66Ala, NP_001290172.1:p.Val47Ala, XP_005245450.1:p.Val218Ala, XP_016857444.1:p.Val218Ala, XP_011508134.1:p.Val66Ala, XP_047282563.1:p.Val66Ala, XP_047282566.1:p.Val47Ala

                            14.

                            rs1439446694 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GGA>- [Show Flanks]
                              Chromosome:
                              1:151034081 (GRCh38)
                              1:151006557 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:151034075:GAGGAGGA:GAGGA
                              Gene:
                              PRUNE1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,inframe_deletion
                              HGVS:
                              NC_000001.11:g.151034078GGA[1], NC_000001.10:g.151006554GGA[1], NG_052875.1:g.30688GGA[1], NM_021222.3:c.1206GGA[1], NM_021222.2:c.1206GGA[1], NM_021222.1:c.1206GGA[1], NM_001303242.2:c.1047GGA[1], NM_001303242.1:c.1047GGA[1], NM_001303229.2:c.660GGA[1], NM_001303229.1:c.660GGA[1], NM_001303243.2:c.603GGA[1], NM_001303243.1:c.603GGA[1], NR_130135.2:n.843GGA[1], NR_130135.1:n.901GGA[1], NR_130131.2:n.843GGA[1], NR_130131.1:n.901GGA[1], NR_130130.2:n.750GGA[1], NR_130130.1:n.808GGA[1], NR_130132.2:n.684GGA[1], NR_130132.1:n.742GGA[1], NG_029720.1:g.2526GGA[1], XM_005245393.6:c.1116GGA[1], XM_005245393.5:c.1116GGA[1], XM_005245393.4:c.1116GGA[1], XM_005245393.3:c.1116GGA[1], XM_005245393.2:c.1116GGA[1], XM_005245393.1:c.1116GGA[1], XM_017001955.3:c.957GGA[1], XM_017001955.2:c.957GGA[1], XM_017001955.1:c.957GGA[1], XM_011509832.3:c.660GGA[1], XM_011509832.2:c.660GGA[1], XM_011509832.1:c.660GGA[1], XM_047426607.1:c.660GGA[1], XM_047426610.1:c.603GGA[1], NP_067045.1:p.Glu403del, NP_001290171.1:p.Glu350del, NP_001290158.1:p.Glu221del, NP_001290172.1:p.Glu202del, XP_005245450.1:p.Glu373del, XP_016857444.1:p.Glu320del, XP_011508134.1:p.Glu221del, XP_047282563.1:p.Glu221del, XP_047282566.1:p.Glu202del

                              15.

                              rs1429756201 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                1:151033961 (GRCh38)
                                1:151006437 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:151033960:T:C
                                Gene:
                                PRUNE1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000004/1 (GnomAD_exomes)
                                C=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000001.11:g.151033961T>C, NC_000001.10:g.151006437T>C, NG_052875.1:g.30571T>C, NM_021222.3:c.1089T>C, NM_021222.2:c.1089T>C, NM_021222.1:c.1089T>C, NM_001303242.2:c.930T>C, NM_001303242.1:c.930T>C, NM_001303229.2:c.543T>C, NM_001303229.1:c.543T>C, NM_001303243.2:c.486T>C, NM_001303243.1:c.486T>C, NR_130135.2:n.726T>C, NR_130135.1:n.784T>C, NR_130131.2:n.726T>C, NR_130131.1:n.784T>C, NR_130130.2:n.633T>C, NR_130130.1:n.691T>C, NR_130132.2:n.567T>C, NR_130132.1:n.625T>C, NG_029720.1:g.2409T>C, XM_005245393.6:c.999T>C, XM_005245393.5:c.999T>C, XM_005245393.4:c.999T>C, XM_005245393.3:c.999T>C, XM_005245393.2:c.999T>C, XM_005245393.1:c.999T>C, XM_017001955.3:c.840T>C, XM_017001955.2:c.840T>C, XM_017001955.1:c.840T>C, XM_011509832.3:c.543T>C, XM_011509832.2:c.543T>C, XM_011509832.1:c.543T>C, XM_047426607.1:c.543T>C, XM_047426610.1:c.486T>C

                                16.

                                rs1426975986 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G [Show Flanks]
                                  Chromosome:
                                  1:151025563 (GRCh38)
                                  1:150998039 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:151025562:C:G
                                  Gene:
                                  PRUNE1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000007/1 (GnomAD)
                                  G=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000001.11:g.151025563C>G, NC_000001.10:g.150998039C>G, NG_052875.1:g.22173C>G, NM_021222.3:c.569C>G, NM_021222.2:c.569C>G, NM_021222.1:c.569C>G, NM_001303242.2:c.569C>G, NM_001303242.1:c.569C>G, NM_001303229.2:c.23C>G, NM_001303229.1:c.23C>G, NR_130135.2:n.365C>G, NR_130135.1:n.423C>G, NR_130130.2:n.272C>G, NR_130130.1:n.330C>G, XM_005245393.6:c.479C>G, XM_005245393.5:c.479C>G, XM_005245393.4:c.479C>G, XM_005245393.3:c.479C>G, XM_005245393.2:c.479C>G, XM_005245393.1:c.479C>G, XM_017001955.3:c.479C>G, XM_017001955.2:c.479C>G, XM_017001955.1:c.479C>G, XM_011509832.3:c.23C>G, XM_011509832.2:c.23C>G, XM_011509832.1:c.23C>G, XM_047426607.1:c.23C>G, NP_067045.1:p.Ala190Gly, NP_001290171.1:p.Ala190Gly, NP_001290158.1:p.Ala8Gly, XP_005245450.1:p.Ala160Gly, XP_016857444.1:p.Ala160Gly, XP_011508134.1:p.Ala8Gly, XP_047282563.1:p.Ala8Gly

                                  17.

                                  rs1423432901 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,T [Show Flanks]
                                    Chromosome:
                                    1:151027295 (GRCh38)
                                    1:150999771 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:151027294:G:A,NC_000001.11:151027294:G:T
                                    Gene:
                                    PRUNE1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    T=0.000004/1 (GnomAD_exomes)
                                    A=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000001.11:g.151027295G>A, NC_000001.11:g.151027295G>T, NC_000001.10:g.150999771G>A, NC_000001.10:g.150999771G>T, NG_052875.1:g.23905G>A, NG_052875.1:g.23905G>T, NM_021222.3:c.742G>A, NM_021222.3:c.742G>T, NM_021222.2:c.742G>A, NM_021222.2:c.742G>T, NM_021222.1:c.742G>A, NM_021222.1:c.742G>T, NM_001303242.2:c.742G>A, NM_001303242.2:c.742G>T, NM_001303242.1:c.742G>A, NM_001303242.1:c.742G>T, NM_001303229.2:c.196G>A, NM_001303229.2:c.196G>T, NM_001303229.1:c.196G>A, NM_001303229.1:c.196G>T, NM_001303243.2:c.139G>A, NM_001303243.2:c.139G>T, NM_001303243.1:c.139G>A, NM_001303243.1:c.139G>T, NR_130135.2:n.538G>A, NR_130135.2:n.538G>T, NR_130135.1:n.596G>A, NR_130135.1:n.596G>T, NR_130131.2:n.379G>A, NR_130131.2:n.379G>T, NR_130131.1:n.437G>A, NR_130131.1:n.437G>T, NR_130130.2:n.445G>A, NR_130130.2:n.445G>T, NR_130130.1:n.503G>A, NR_130130.1:n.503G>T, NR_130132.2:n.379G>A, NR_130132.2:n.379G>T, NR_130132.1:n.437G>A, NR_130132.1:n.437G>T, XM_005245393.6:c.652G>A, XM_005245393.6:c.652G>T, XM_005245393.5:c.652G>A, XM_005245393.5:c.652G>T, XM_005245393.4:c.652G>A, XM_005245393.4:c.652G>T, XM_005245393.3:c.652G>A, XM_005245393.3:c.652G>T, XM_005245393.2:c.652G>A, XM_005245393.2:c.652G>T, XM_005245393.1:c.652G>A, XM_005245393.1:c.652G>T, XM_017001955.3:c.652G>A, XM_017001955.3:c.652G>T, XM_017001955.2:c.652G>A, XM_017001955.2:c.652G>T, XM_017001955.1:c.652G>A, XM_017001955.1:c.652G>T, XM_011509832.3:c.196G>A, XM_011509832.3:c.196G>T, XM_011509832.2:c.196G>A, XM_011509832.2:c.196G>T, XM_011509832.1:c.196G>A, XM_011509832.1:c.196G>T, XM_047426607.1:c.196G>A, XM_047426607.1:c.196G>T, XM_047426610.1:c.139G>A, XM_047426610.1:c.139G>T, NP_067045.1:p.Val248Met, NP_067045.1:p.Val248Leu, NP_001290171.1:p.Val248Met, NP_001290171.1:p.Val248Leu, NP_001290158.1:p.Val66Met, NP_001290158.1:p.Val66Leu, NP_001290172.1:p.Val47Met, NP_001290172.1:p.Val47Leu, XP_005245450.1:p.Val218Met, XP_005245450.1:p.Val218Leu, XP_016857444.1:p.Val218Met, XP_016857444.1:p.Val218Leu, XP_011508134.1:p.Val66Met, XP_011508134.1:p.Val66Leu, XP_047282563.1:p.Val66Met, XP_047282563.1:p.Val66Leu, XP_047282566.1:p.Val47Met, XP_047282566.1:p.Val47Leu

                                    18.

                                    rs1422761800 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      1:151027314 (GRCh38)
                                      1:150999790 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:151027313:A:G
                                      Gene:
                                      PRUNE1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000001.11:g.151027314A>G, NC_000001.10:g.150999790A>G, NG_052875.1:g.23924A>G, NM_021222.3:c.761A>G, NM_021222.2:c.761A>G, NM_021222.1:c.761A>G, NM_001303242.2:c.761A>G, NM_001303242.1:c.761A>G, NM_001303229.2:c.215A>G, NM_001303229.1:c.215A>G, NM_001303243.2:c.158A>G, NM_001303243.1:c.158A>G, NR_130135.2:n.557A>G, NR_130135.1:n.615A>G, NR_130131.2:n.398A>G, NR_130131.1:n.456A>G, NR_130130.2:n.464A>G, NR_130130.1:n.522A>G, NR_130132.2:n.398A>G, NR_130132.1:n.456A>G, XM_005245393.6:c.671A>G, XM_005245393.5:c.671A>G, XM_005245393.4:c.671A>G, XM_005245393.3:c.671A>G, XM_005245393.2:c.671A>G, XM_005245393.1:c.671A>G, XM_017001955.3:c.671A>G, XM_017001955.2:c.671A>G, XM_017001955.1:c.671A>G, XM_011509832.3:c.215A>G, XM_011509832.2:c.215A>G, XM_011509832.1:c.215A>G, XM_047426607.1:c.215A>G, XM_047426610.1:c.158A>G, NP_067045.1:p.Tyr254Cys, NP_001290171.1:p.Tyr254Cys, NP_001290158.1:p.Tyr72Cys, NP_001290172.1:p.Tyr53Cys, XP_005245450.1:p.Tyr224Cys, XP_016857444.1:p.Tyr224Cys, XP_011508134.1:p.Tyr72Cys, XP_047282563.1:p.Tyr72Cys, XP_047282566.1:p.Tyr53Cys

                                      19.

                                      rs1418650778 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        ->C [Show Flanks]
                                        Chromosome:
                                        1:151034093 (GRCh38)
                                        1:151006570 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:151034093:CCCCC:CCCCCC
                                        Gene:
                                        PRUNE1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        CCCCCC=0./0 (ALFA)
                                        C=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000001.11:g.151034098dup, NC_000001.10:g.151006574dup, NG_052875.1:g.30708dup, NM_021222.3:c.1226dup, NM_021222.2:c.1226dup, NM_021222.1:c.1226dup, NM_001303242.2:c.1067dup, NM_001303242.1:c.1067dup, NM_001303229.2:c.680dup, NM_001303229.1:c.680dup, NM_001303243.2:c.623dup, NM_001303243.1:c.623dup, NR_130135.2:n.863dup, NR_130135.1:n.921dup, NR_130131.2:n.863dup, NR_130131.1:n.921dup, NR_130130.2:n.770dup, NR_130130.1:n.828dup, NR_130132.2:n.704dup, NR_130132.1:n.762dup, NG_029720.1:g.2546dup, XM_005245393.6:c.1136dup, XM_005245393.5:c.1136dup, XM_005245393.4:c.1136dup, XM_005245393.3:c.1136dup, XM_005245393.2:c.1136dup, XM_005245393.1:c.1136dup, XM_017001955.3:c.977dup, XM_017001955.2:c.977dup, XM_017001955.1:c.977dup, XM_011509832.3:c.680dup, XM_011509832.2:c.680dup, XM_011509832.1:c.680dup, XM_047426607.1:c.680dup, XM_047426610.1:c.623dup, NP_067045.1:p.Thr410fs, NP_001290171.1:p.Thr357fs, NP_001290158.1:p.Thr228fs, NP_001290172.1:p.Thr209fs, XP_005245450.1:p.Thr380fs, XP_016857444.1:p.Thr327fs, XP_011508134.1:p.Thr228fs, XP_047282563.1:p.Thr228fs, XP_047282566.1:p.Thr209fs

                                        20.

                                        rs1417519228 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          1:151028893 (GRCh38)
                                          1:151001369 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:151028892:G:A
                                          Gene:
                                          PRUNE1 (Varview)
                                          Functional Consequence:
                                          intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0.000031/1 (ALFA)
                                          A=0.000004/1 (GnomAD_exomes)
                                          A=0.000004/1 (TOPMED)
                                          HGVS:

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