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Items: 1 to 20 of 289

1.

rs1476448246 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    8:42349051 (GRCh38)
    8:42206569 (GRCh37)
    Canonical SPDI:
    NC_000008.11:42349050:T:C
    Gene:
    POLB (Varview)
    Functional Consequence:
    synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.000031/1 (ALFA)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    C=0.000008/2 (GnomAD_exomes)
    HGVS:

    2.

    rs1476127435 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      ACGGAAG>- [Show Flanks]
      Chromosome:
      8:42338633 (GRCh38)
      8:42196151 (GRCh37)
      Canonical SPDI:
      NC_000008.11:42338632:ACGGAAG:
      Gene:
      POLB (Varview)
      Functional Consequence:
      non_coding_transcript_variant,genic_upstream_transcript_variant,frameshift_variant,5_prime_UTR_variant,coding_sequence_variant
      HGVS:
      NC_000008.11:g.42338633_42338639del, NC_000008.10:g.42196151_42196157del, XM_005273535.5:c.9_15del, XM_005273535.4:c.9_15del, XM_005273535.3:c.9_15del, XM_005273535.2:c.9_15del, XM_005273535.1:c.9_15del, XM_005273536.5:c.9_15del, XM_005273536.4:c.9_15del, XM_005273536.3:c.9_15del, XM_005273536.2:c.9_15del, XM_005273536.1:c.9_15del, XM_005273537.5:c.9_15del, XM_005273537.4:c.9_15del, XM_005273537.3:c.9_15del, XM_005273537.2:c.9_15del, XM_005273537.1:c.9_15del, XM_005273540.5:c.-212_-206del, XM_005273540.4:c.-212_-206del, XM_005273540.3:c.-212_-206del, XM_005273540.2:c.-212_-206del, XM_005273540.1:c.-212_-206del, XR_428311.4:n.140_146del, XR_428311.3:n.143_149del, XR_428311.2:n.176_182del, XR_428311.1:n.143_149del, XM_005273538.3:c.-381_-375del, XM_005273538.2:c.-381_-375del, XM_005273538.1:c.-381_-375del, NM_002690.3:c.9_15del, NM_002690.2:c.9_15del, XM_005273539.3:c.-396_-390del, XM_005273539.2:c.-396_-390del, XM_005273539.1:c.-396_-390del, XM_017013583.2:c.-247_-241del, XM_017013583.1:c.-247_-241del, XM_017013584.2:c.-262_-256del, XM_017013584.1:c.-262_-256del, XP_005273592.1:p.Lys5fs, XP_005273593.1:p.Lys5fs, XP_005273594.1:p.Lys5fs, NP_002681.1:p.Lys5fs

      3.

      rs1474980989 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>T [Show Flanks]
        Chromosome:
        8:42369272 (GRCh38)
        8:42226790 (GRCh37)
        Canonical SPDI:
        NC_000008.11:42369271:G:T
        Gene:
        POLB (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        T=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000008.11:g.42369272G>T, NC_000008.10:g.42226790G>T, XM_005273535.5:c.815G>T, XM_005273535.4:c.815G>T, XM_005273535.3:c.815G>T, XM_005273535.2:c.815G>T, XM_005273535.1:c.815G>T, XM_005273536.5:c.728G>T, XM_005273536.4:c.728G>T, XM_005273536.3:c.728G>T, XM_005273536.2:c.728G>T, XM_005273536.1:c.728G>T, XM_005273537.5:c.623G>T, XM_005273537.4:c.623G>T, XM_005273537.3:c.623G>T, XM_005273537.2:c.623G>T, XM_005273537.1:c.623G>T, XM_005273540.5:c.248G>T, XM_005273540.4:c.248G>T, XM_005273540.3:c.248G>T, XM_005273540.2:c.248G>T, XM_005273540.1:c.248G>T, XM_005273538.3:c.368G>T, XM_005273538.2:c.368G>T, XM_005273538.1:c.368G>T, NM_002690.3:c.710G>T, NM_002690.2:c.710G>T, XM_005273539.3:c.248G>T, XM_005273539.2:c.248G>T, XM_005273539.1:c.248G>T, XM_017013583.2:c.368G>T, XM_017013583.1:c.368G>T, XM_017013584.2:c.248G>T, XM_017013584.1:c.248G>T, XM_047421900.1:c.368G>T, XM_047421901.1:c.248G>T, XP_005273592.1:p.Gly272Val, XP_005273593.1:p.Gly243Val, XP_005273594.1:p.Gly208Val, XP_005273597.1:p.Gly83Val, XP_005273595.1:p.Gly123Val, NP_002681.1:p.Gly237Val, XP_005273596.1:p.Gly83Val, XP_016869072.1:p.Gly123Val, XP_016869073.1:p.Gly83Val, XP_047277856.1:p.Gly123Val, XP_047277857.1:p.Gly83Val

        4.

        rs1473168210 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          8:42357221 (GRCh38)
          8:42214739 (GRCh37)
          Canonical SPDI:
          NC_000008.11:42357220:C:G
          Gene:
          POLB (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa
          MAF:
          G=0.000047/1 (ALFA)
          G=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000008.11:g.42357221C>G, NC_000008.10:g.42214739C>G, XM_005273535.5:c.580C>G, XM_005273535.4:c.580C>G, XM_005273535.3:c.580C>G, XM_005273535.2:c.580C>G, XM_005273535.1:c.580C>G, XM_005273536.5:c.580C>G, XM_005273536.4:c.580C>G, XM_005273536.3:c.580C>G, XM_005273536.2:c.580C>G, XM_005273536.1:c.580C>G, XM_005273537.5:c.475C>G, XM_005273537.4:c.475C>G, XM_005273537.3:c.475C>G, XM_005273537.2:c.475C>G, XM_005273537.1:c.475C>G, XM_005273540.5:c.13C>G, XM_005273540.4:c.13C>G, XM_005273540.3:c.13C>G, XM_005273540.2:c.13C>G, XM_005273540.1:c.13C>G, XR_428311.4:n.711C>G, XR_428311.3:n.714C>G, XR_428311.2:n.747C>G, XR_428311.1:n.714C>G, XM_005273538.3:c.133C>G, XM_005273538.2:c.133C>G, XM_005273538.1:c.133C>G, NM_002690.3:c.475C>G, NM_002690.2:c.475C>G, XM_005273539.3:c.13C>G, XM_005273539.2:c.13C>G, XM_005273539.1:c.13C>G, XM_017013583.2:c.133C>G, XM_017013583.1:c.133C>G, XM_017013584.2:c.13C>G, XM_017013584.1:c.13C>G, XM_047421900.1:c.133C>G, XM_047421901.1:c.13C>G, XP_005273592.1:p.Gln194Glu, XP_005273593.1:p.Gln194Glu, XP_005273594.1:p.Gln159Glu, XP_005273597.1:p.Gln5Glu, XP_005273595.1:p.Gln45Glu, NP_002681.1:p.Gln159Glu, XP_005273596.1:p.Gln5Glu, XP_016869072.1:p.Gln45Glu, XP_016869073.1:p.Gln5Glu, XP_047277856.1:p.Gln45Glu, XP_047277857.1:p.Gln5Glu

          5.

          rs1467224777 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            8:42350017 (GRCh38)
            8:42207535 (GRCh37)
            Canonical SPDI:
            NC_000008.11:42350016:A:G
            Gene:
            POLB (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.42350017A>G, NC_000008.10:g.42207535A>G, XM_005273535.5:c.272A>G, XM_005273535.4:c.272A>G, XM_005273535.3:c.272A>G, XM_005273535.2:c.272A>G, XM_005273535.1:c.272A>G, XM_005273536.5:c.272A>G, XM_005273536.4:c.272A>G, XM_005273536.3:c.272A>G, XM_005273536.2:c.272A>G, XM_005273536.1:c.272A>G, XM_005273537.5:c.272A>G, XM_005273537.4:c.272A>G, XM_005273537.3:c.272A>G, XM_005273537.2:c.272A>G, XM_005273537.1:c.272A>G, XR_428311.4:n.403A>G, XR_428311.3:n.406A>G, XR_428311.2:n.439A>G, XR_428311.1:n.406A>G, XM_005273538.3:c.-176A>G, XM_005273538.2:c.-176A>G, XM_005273538.1:c.-176A>G, NM_002690.3:c.272A>G, NM_002690.2:c.272A>G, XM_005273539.3:c.-191A>G, XM_005273539.2:c.-191A>G, XM_005273539.1:c.-191A>G, XP_005273592.1:p.Asp91Gly, XP_005273593.1:p.Asp91Gly, XP_005273594.1:p.Asp91Gly, NP_002681.1:p.Asp91Gly

            6.

            rs1466405157 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              8:42357331 (GRCh38)
              8:42214849 (GRCh37)
              Canonical SPDI:
              NC_000008.11:42357330:A:C
              Gene:
              POLB (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000008.11:g.42357331A>C, NC_000008.10:g.42214849A>C, XM_005273535.5:c.594A>C, XM_005273535.4:c.594A>C, XM_005273535.3:c.594A>C, XM_005273535.2:c.594A>C, XM_005273535.1:c.594A>C, XM_005273536.5:c.594A>C, XM_005273536.4:c.594A>C, XM_005273536.3:c.594A>C, XM_005273536.2:c.594A>C, XM_005273536.1:c.594A>C, XM_005273537.5:c.489A>C, XM_005273537.4:c.489A>C, XM_005273537.3:c.489A>C, XM_005273537.2:c.489A>C, XM_005273537.1:c.489A>C, XM_005273540.5:c.27A>C, XM_005273540.4:c.27A>C, XM_005273540.3:c.27A>C, XM_005273540.2:c.27A>C, XM_005273540.1:c.27A>C, XR_428311.4:n.725A>C, XR_428311.3:n.728A>C, XR_428311.2:n.761A>C, XR_428311.1:n.728A>C, XM_005273538.3:c.147A>C, XM_005273538.2:c.147A>C, XM_005273538.1:c.147A>C, NM_002690.3:c.489A>C, NM_002690.2:c.489A>C, XM_005273539.3:c.27A>C, XM_005273539.2:c.27A>C, XM_005273539.1:c.27A>C, XM_017013583.2:c.147A>C, XM_017013583.1:c.147A>C, XM_017013584.2:c.27A>C, XM_017013584.1:c.27A>C, XM_047421900.1:c.147A>C, XM_047421901.1:c.27A>C

              7.

              rs1465217061 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>G [Show Flanks]
                Chromosome:
                8:42350029 (GRCh38)
                8:42207547 (GRCh37)
                Canonical SPDI:
                NC_000008.11:42350028:C:G
                Gene:
                POLB (Varview)
                Functional Consequence:
                intron_variant,coding_sequence_variant,5_prime_UTR_variant,stop_gained,non_coding_transcript_variant
                HGVS:
                NC_000008.11:g.42350029C>G, NC_000008.10:g.42207547C>G, XM_005273535.5:c.284C>G, XM_005273535.4:c.284C>G, XM_005273535.3:c.284C>G, XM_005273535.2:c.284C>G, XM_005273535.1:c.284C>G, XM_005273536.5:c.284C>G, XM_005273536.4:c.284C>G, XM_005273536.3:c.284C>G, XM_005273536.2:c.284C>G, XM_005273536.1:c.284C>G, XM_005273537.5:c.284C>G, XM_005273537.4:c.284C>G, XM_005273537.3:c.284C>G, XM_005273537.2:c.284C>G, XM_005273537.1:c.284C>G, XR_428311.4:n.415C>G, XR_428311.3:n.418C>G, XR_428311.2:n.451C>G, XR_428311.1:n.418C>G, XM_005273538.3:c.-164C>G, XM_005273538.2:c.-164C>G, XM_005273538.1:c.-164C>G, NM_002690.3:c.284C>G, NM_002690.2:c.284C>G, XM_005273539.3:c.-179C>G, XM_005273539.2:c.-179C>G, XM_005273539.1:c.-179C>G, XP_005273592.1:p.Ser95Ter, XP_005273593.1:p.Ser95Ter, XP_005273594.1:p.Ser95Ter, NP_002681.1:p.Ser95Ter

                8.

                rs1463614564 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  8:42338643 (GRCh38)
                  8:42196161 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:42338642:C:T
                  Gene:
                  POLB (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  T=0.000035/1 (TOMMO)
                  HGVS:
                  NC_000008.11:g.42338643C>T, NC_000008.10:g.42196161C>T, XM_005273535.5:c.19C>T, XM_005273535.4:c.19C>T, XM_005273535.3:c.19C>T, XM_005273535.2:c.19C>T, XM_005273535.1:c.19C>T, XM_005273536.5:c.19C>T, XM_005273536.4:c.19C>T, XM_005273536.3:c.19C>T, XM_005273536.2:c.19C>T, XM_005273536.1:c.19C>T, XM_005273537.5:c.19C>T, XM_005273537.4:c.19C>T, XM_005273537.3:c.19C>T, XM_005273537.2:c.19C>T, XM_005273537.1:c.19C>T, XM_005273540.5:c.-202C>T, XM_005273540.4:c.-202C>T, XM_005273540.3:c.-202C>T, XM_005273540.2:c.-202C>T, XM_005273540.1:c.-202C>T, XR_428311.4:n.150C>T, XR_428311.3:n.153C>T, XR_428311.2:n.186C>T, XR_428311.1:n.153C>T, XM_005273538.3:c.-371C>T, XM_005273538.2:c.-371C>T, XM_005273538.1:c.-371C>T, NM_002690.3:c.19C>T, NM_002690.2:c.19C>T, XM_005273539.3:c.-386C>T, XM_005273539.2:c.-386C>T, XM_005273539.1:c.-386C>T, XM_017013583.2:c.-237C>T, XM_017013583.1:c.-237C>T, XM_017013584.2:c.-252C>T, XM_017013584.1:c.-252C>T, XP_005273592.1:p.Pro7Ser, XP_005273593.1:p.Pro7Ser, XP_005273594.1:p.Pro7Ser, NP_002681.1:p.Pro7Ser

                  9.

                  rs1463597732 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    8:42369857 (GRCh38)
                    8:42227375 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:42369856:C:T
                    Gene:
                    POLB (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000008.11:g.42369857C>T, NC_000008.10:g.42227375C>T, XM_005273535.5:c.887C>T, XM_005273535.4:c.887C>T, XM_005273535.3:c.887C>T, XM_005273535.2:c.887C>T, XM_005273535.1:c.887C>T, XM_005273536.5:c.800C>T, XM_005273536.4:c.800C>T, XM_005273536.3:c.800C>T, XM_005273536.2:c.800C>T, XM_005273536.1:c.800C>T, XM_005273537.5:c.695C>T, XM_005273537.4:c.695C>T, XM_005273537.3:c.695C>T, XM_005273537.2:c.695C>T, XM_005273537.1:c.695C>T, XM_005273540.5:c.320C>T, XM_005273540.4:c.320C>T, XM_005273540.3:c.320C>T, XM_005273540.2:c.320C>T, XM_005273540.1:c.320C>T, XM_005273538.3:c.440C>T, XM_005273538.2:c.440C>T, XM_005273538.1:c.440C>T, NM_002690.3:c.782C>T, NM_002690.2:c.782C>T, XM_005273539.3:c.320C>T, XM_005273539.2:c.320C>T, XM_005273539.1:c.320C>T, XM_017013583.2:c.440C>T, XM_017013583.1:c.440C>T, XM_017013584.2:c.320C>T, XM_017013584.1:c.320C>T, XM_047421900.1:c.440C>T, XM_047421901.1:c.320C>T, XP_005273592.1:p.Pro296Leu, XP_005273593.1:p.Pro267Leu, XP_005273594.1:p.Pro232Leu, XP_005273597.1:p.Pro107Leu, XP_005273595.1:p.Pro147Leu, NP_002681.1:p.Pro261Leu, XP_005273596.1:p.Pro107Leu, XP_016869072.1:p.Pro147Leu, XP_016869073.1:p.Pro107Leu, XP_047277856.1:p.Pro147Leu, XP_047277857.1:p.Pro107Leu

                    10.

                    rs1462037428 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>G [Show Flanks]
                      Chromosome:
                      8:42344965 (GRCh38)
                      8:42202483 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:42344964:T:G
                      Gene:
                      POLB (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000004/1 (GnomAD_exomes)
                      G=0.000011/3 (TOPMED)
                      G=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000008.11:g.42344965T>G, NC_000008.10:g.42202483T>G, XM_005273535.5:c.132T>G, XM_005273535.4:c.132T>G, XM_005273535.3:c.132T>G, XM_005273535.2:c.132T>G, XM_005273535.1:c.132T>G, XM_005273536.5:c.132T>G, XM_005273536.4:c.132T>G, XM_005273536.3:c.132T>G, XM_005273536.2:c.132T>G, XM_005273536.1:c.132T>G, XM_005273537.5:c.132T>G, XM_005273537.4:c.132T>G, XM_005273537.3:c.132T>G, XM_005273537.2:c.132T>G, XM_005273537.1:c.132T>G, XM_005273540.5:c.-147T>G, XM_005273540.4:c.-147T>G, XM_005273540.3:c.-147T>G, XM_005273540.2:c.-147T>G, XM_005273540.1:c.-147T>G, XR_428311.4:n.263T>G, XR_428311.3:n.266T>G, XR_428311.2:n.299T>G, XR_428311.1:n.266T>G, XM_005273538.3:c.-316T>G, XM_005273538.2:c.-316T>G, XM_005273538.1:c.-316T>G, NM_002690.3:c.132T>G, NM_002690.2:c.132T>G, XM_005273539.3:c.-331T>G, XM_005273539.2:c.-331T>G, XM_005273539.1:c.-331T>G, XM_017013583.2:c.-182T>G, XM_017013583.1:c.-182T>G, XM_017013584.2:c.-197T>G, XM_017013584.1:c.-197T>G

                      11.

                      rs1459929421 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>T [Show Flanks]
                        Chromosome:
                        8:42354469 (GRCh38)
                        8:42211987 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:42354468:A:T
                        Gene:
                        POLB (Varview)
                        Functional Consequence:
                        intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:

                        12.

                        rs1458551378 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G [Show Flanks]
                          Chromosome:
                          8:42350042 (GRCh38)
                          8:42207560 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:42350041:C:G
                          Gene:
                          POLB (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0.000447/2 (ALFA)
                          G=0.000014/2 (GnomAD)
                          G=0.000446/2 (Estonian)
                          HGVS:
                          NC_000008.11:g.42350042C>G, NC_000008.10:g.42207560C>G, XM_005273535.5:c.297C>G, XM_005273535.4:c.297C>G, XM_005273535.3:c.297C>G, XM_005273535.2:c.297C>G, XM_005273535.1:c.297C>G, XM_005273536.5:c.297C>G, XM_005273536.4:c.297C>G, XM_005273536.3:c.297C>G, XM_005273536.2:c.297C>G, XM_005273536.1:c.297C>G, XM_005273537.5:c.297C>G, XM_005273537.4:c.297C>G, XM_005273537.3:c.297C>G, XM_005273537.2:c.297C>G, XM_005273537.1:c.297C>G, XR_428311.4:n.428C>G, XR_428311.3:n.431C>G, XR_428311.2:n.464C>G, XR_428311.1:n.431C>G, XM_005273538.3:c.-151C>G, XM_005273538.2:c.-151C>G, XM_005273538.1:c.-151C>G, NM_002690.3:c.297C>G, NM_002690.2:c.297C>G, XM_005273539.3:c.-166C>G, XM_005273539.2:c.-166C>G, XM_005273539.1:c.-166C>G, XP_005273592.1:p.Phe99Leu, XP_005273593.1:p.Phe99Leu, XP_005273594.1:p.Phe99Leu, NP_002681.1:p.Phe99Leu

                          13.

                          rs1453231676 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            AG>- [Show Flanks]
                            Chromosome:
                            8:42361301 (GRCh38)
                            8:42218819 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:42361298:AGAG:AG
                            Gene:
                            POLB (Varview)
                            Functional Consequence:
                            frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            AGAG=0.000071/1 (ALFA)
                            -=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000008.11:g.42361299AG[1], NC_000008.10:g.42218817AG[1], XM_005273535.5:c.662_663del, XM_005273535.4:c.662_663del, XM_005273535.3:c.662_663del, XM_005273535.2:c.662_663del, XM_005273535.1:c.662_663del, XM_005273536.5:c.662_663del, XM_005273536.4:c.662_663del, XM_005273536.3:c.662_663del, XM_005273536.2:c.662_663del, XM_005273536.1:c.662_663del, XM_005273537.5:c.557_558del, XM_005273537.4:c.557_558del, XM_005273537.3:c.557_558del, XM_005273537.2:c.557_558del, XM_005273537.1:c.557_558del, XM_005273540.5:c.95_96del, XM_005273540.4:c.95_96del, XM_005273540.3:c.95_96del, XM_005273540.2:c.95_96del, XM_005273540.1:c.95_96del, XR_428311.4:n.898AG[1], XR_428311.3:n.901AG[1], XR_428311.2:n.934AG[1], XR_428311.1:n.901AG[1], XM_005273538.3:c.215_216del, XM_005273538.2:c.215_216del, XM_005273538.1:c.215_216del, NM_002690.3:c.557_558del, NM_002690.2:c.557_558del, XM_005273539.3:c.95_96del, XM_005273539.2:c.95_96del, XM_005273539.1:c.95_96del, XM_017013583.2:c.215_216del, XM_017013583.1:c.215_216del, XM_017013584.2:c.95_96del, XM_017013584.1:c.95_96del, XM_047421900.1:c.215_216del, XM_047421901.1:c.95_96del, XP_005273592.1:p.Glu221fs, XP_005273593.1:p.Glu221fs, XP_005273594.1:p.Glu186fs, XP_005273597.1:p.Glu32fs, XP_005273595.1:p.Glu72fs, NP_002681.1:p.Glu186fs, XP_005273596.1:p.Glu32fs, XP_016869072.1:p.Glu72fs, XP_016869073.1:p.Glu32fs, XP_047277856.1:p.Glu72fs, XP_047277857.1:p.Glu32fs

                            14.

                            rs1452231640 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              8:42339015 (GRCh38)
                              8:42196533 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:42339014:T:C
                              Gene:
                              POLB (Varview)
                              Functional Consequence:
                              intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                              Validated:
                              by frequency
                              MAF:
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:

                              15.

                              rs1450680401 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                8:42369327 (GRCh38)
                                8:42226845 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:42369326:T:C
                                Gene:
                                POLB (Varview)
                                Functional Consequence:
                                genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000042/11 (TOPMED)
                                HGVS:
                                NC_000008.11:g.42369327T>C, NC_000008.10:g.42226845T>C, XM_005273535.5:c.870T>C, XM_005273535.4:c.870T>C, XM_005273535.3:c.870T>C, XM_005273535.2:c.870T>C, XM_005273535.1:c.870T>C, XM_005273536.5:c.783T>C, XM_005273536.4:c.783T>C, XM_005273536.3:c.783T>C, XM_005273536.2:c.783T>C, XM_005273536.1:c.783T>C, XM_005273537.5:c.678T>C, XM_005273537.4:c.678T>C, XM_005273537.3:c.678T>C, XM_005273537.2:c.678T>C, XM_005273537.1:c.678T>C, XM_005273540.5:c.303T>C, XM_005273540.4:c.303T>C, XM_005273540.3:c.303T>C, XM_005273540.2:c.303T>C, XM_005273540.1:c.303T>C, XM_005273538.3:c.423T>C, XM_005273538.2:c.423T>C, XM_005273538.1:c.423T>C, NM_002690.3:c.765T>C, NM_002690.2:c.765T>C, XM_005273539.3:c.303T>C, XM_005273539.2:c.303T>C, XM_005273539.1:c.303T>C, XM_017013583.2:c.423T>C, XM_017013583.1:c.423T>C, XM_017013584.2:c.303T>C, XM_017013584.1:c.303T>C, XM_047421900.1:c.423T>C, XM_047421901.1:c.303T>C

                                16.

                                rs1450499510 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>A,G,T [Show Flanks]
                                  Chromosome:
                                  8:42362612 (GRCh38)
                                  8:42220130 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:42362611:C:A,NC_000008.11:42362611:C:G,NC_000008.11:42362611:C:T
                                  Gene:
                                  POLB (Varview)
                                  Functional Consequence:
                                  intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  G=0./0 (ALFA)
                                  T=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000008.11:g.42362612C>A, NC_000008.11:g.42362612C>G, NC_000008.11:g.42362612C>T, NC_000008.10:g.42220130C>A, NC_000008.10:g.42220130C>G, NC_000008.10:g.42220130C>T, XM_005273535.5:c.727C>A, XM_005273535.5:c.727C>G, XM_005273535.5:c.727C>T, XM_005273535.4:c.727C>A, XM_005273535.4:c.727C>G, XM_005273535.4:c.727C>T, XM_005273535.3:c.727C>A, XM_005273535.3:c.727C>G, XM_005273535.3:c.727C>T, XM_005273535.2:c.727C>A, XM_005273535.2:c.727C>G, XM_005273535.2:c.727C>T, XM_005273535.1:c.727C>A, XM_005273535.1:c.727C>G, XM_005273535.1:c.727C>T, XM_005273540.5:c.160C>A, XM_005273540.5:c.160C>G, XM_005273540.5:c.160C>T, XM_005273540.4:c.160C>A, XM_005273540.4:c.160C>G, XM_005273540.4:c.160C>T, XM_005273540.3:c.160C>A, XM_005273540.3:c.160C>G, XM_005273540.3:c.160C>T, XM_005273540.2:c.160C>A, XM_005273540.2:c.160C>G, XM_005273540.2:c.160C>T, XM_005273540.1:c.160C>A, XM_005273540.1:c.160C>G, XM_005273540.1:c.160C>T, XR_428311.4:n.965C>A, XR_428311.4:n.965C>G, XR_428311.4:n.965C>T, XR_428311.3:n.968C>A, XR_428311.3:n.968C>G, XR_428311.3:n.968C>T, XR_428311.2:n.1001C>A, XR_428311.2:n.1001C>G, XR_428311.2:n.1001C>T, XM_005273538.3:c.280C>A, XM_005273538.3:c.280C>G, XM_005273538.3:c.280C>T, XM_005273538.2:c.280C>A, XM_005273538.2:c.280C>G, XM_005273538.2:c.280C>T, XM_005273538.1:c.280C>A, XM_005273538.1:c.280C>G, XM_005273538.1:c.280C>T, NM_002690.3:c.622C>A, NM_002690.3:c.622C>G, NM_002690.3:c.622C>T, NM_002690.2:c.622C>A, NM_002690.2:c.622C>G, NM_002690.2:c.622C>T, XM_005273539.3:c.160C>A, XM_005273539.3:c.160C>G, XM_005273539.3:c.160C>T, XM_005273539.2:c.160C>A, XM_005273539.2:c.160C>G, XM_005273539.2:c.160C>T, XM_005273539.1:c.160C>A, XM_005273539.1:c.160C>G, XM_005273539.1:c.160C>T, XM_017013583.2:c.280C>A, XM_017013583.2:c.280C>G, XM_017013583.2:c.280C>T, XM_017013583.1:c.280C>A, XM_017013583.1:c.280C>G, XM_017013583.1:c.280C>T, XM_017013584.2:c.160C>A, XM_017013584.2:c.160C>G, XM_017013584.2:c.160C>T, XM_017013584.1:c.160C>A, XM_017013584.1:c.160C>G, XM_017013584.1:c.160C>T, XM_047421900.1:c.280C>A, XM_047421900.1:c.280C>G, XM_047421900.1:c.280C>T, XM_047421901.1:c.160C>A, XM_047421901.1:c.160C>G, XM_047421901.1:c.160C>T, XP_005273592.1:p.Pro243Thr, XP_005273592.1:p.Pro243Ala, XP_005273592.1:p.Pro243Ser, XP_005273597.1:p.Pro54Thr, XP_005273597.1:p.Pro54Ala, XP_005273597.1:p.Pro54Ser, XP_005273595.1:p.Pro94Thr, XP_005273595.1:p.Pro94Ala, XP_005273595.1:p.Pro94Ser, NP_002681.1:p.Pro208Thr, NP_002681.1:p.Pro208Ala, NP_002681.1:p.Pro208Ser, XP_005273596.1:p.Pro54Thr, XP_005273596.1:p.Pro54Ala, XP_005273596.1:p.Pro54Ser, XP_016869072.1:p.Pro94Thr, XP_016869072.1:p.Pro94Ala, XP_016869072.1:p.Pro94Ser, XP_016869073.1:p.Pro54Thr, XP_016869073.1:p.Pro54Ala, XP_016869073.1:p.Pro54Ser, XP_047277856.1:p.Pro94Thr, XP_047277856.1:p.Pro94Ala, XP_047277856.1:p.Pro94Ser, XP_047277857.1:p.Pro54Thr, XP_047277857.1:p.Pro54Ala, XP_047277857.1:p.Pro54Ser

                                  17.

                                  rs1437516187 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    8:42357371 (GRCh38)
                                    8:42214889 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:42357370:G:C
                                    Gene:
                                    POLB (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000008.11:g.42357371G>C, NC_000008.10:g.42214889G>C, XM_005273535.5:c.634G>C, XM_005273535.4:c.634G>C, XM_005273535.3:c.634G>C, XM_005273535.2:c.634G>C, XM_005273535.1:c.634G>C, XM_005273536.5:c.634G>C, XM_005273536.4:c.634G>C, XM_005273536.3:c.634G>C, XM_005273536.2:c.634G>C, XM_005273536.1:c.634G>C, XM_005273537.5:c.529G>C, XM_005273537.4:c.529G>C, XM_005273537.3:c.529G>C, XM_005273537.2:c.529G>C, XM_005273537.1:c.529G>C, XM_005273540.5:c.67G>C, XM_005273540.4:c.67G>C, XM_005273540.3:c.67G>C, XM_005273540.2:c.67G>C, XM_005273540.1:c.67G>C, XR_428311.4:n.765G>C, XR_428311.3:n.768G>C, XR_428311.2:n.801G>C, XR_428311.1:n.768G>C, XM_005273538.3:c.187G>C, XM_005273538.2:c.187G>C, XM_005273538.1:c.187G>C, NM_002690.3:c.529G>C, NM_002690.2:c.529G>C, XM_005273539.3:c.67G>C, XM_005273539.2:c.67G>C, XM_005273539.1:c.67G>C, XM_017013583.2:c.187G>C, XM_017013583.1:c.187G>C, XM_017013584.2:c.67G>C, XM_017013584.1:c.67G>C, XM_047421900.1:c.187G>C, XM_047421901.1:c.67G>C, XP_005273592.1:p.Val212Leu, XP_005273593.1:p.Val212Leu, XP_005273594.1:p.Val177Leu, XP_005273597.1:p.Val23Leu, XP_005273595.1:p.Val63Leu, NP_002681.1:p.Val177Leu, XP_005273596.1:p.Val23Leu, XP_016869072.1:p.Val63Leu, XP_016869073.1:p.Val23Leu, XP_047277856.1:p.Val63Leu, XP_047277857.1:p.Val23Leu

                                    18.

                                    rs1433797081 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      8:42369970 (GRCh38)
                                      8:42227488 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:42369969:C:T
                                      Gene:
                                      POLB (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      T=0.000015/4 (TOPMED)
                                      HGVS:
                                      NC_000008.11:g.42369970C>T, NC_000008.10:g.42227488C>T, XM_005273535.5:c.1000C>T, XM_005273535.4:c.1000C>T, XM_005273535.3:c.1000C>T, XM_005273535.2:c.1000C>T, XM_005273535.1:c.1000C>T, XM_005273536.5:c.913C>T, XM_005273536.4:c.913C>T, XM_005273536.3:c.913C>T, XM_005273536.2:c.913C>T, XM_005273536.1:c.913C>T, XM_005273537.5:c.808C>T, XM_005273537.4:c.808C>T, XM_005273537.3:c.808C>T, XM_005273537.2:c.808C>T, XM_005273537.1:c.808C>T, XM_005273540.5:c.433C>T, XM_005273540.4:c.433C>T, XM_005273540.3:c.433C>T, XM_005273540.2:c.433C>T, XM_005273540.1:c.433C>T, XM_005273538.3:c.553C>T, XM_005273538.2:c.553C>T, XM_005273538.1:c.553C>T, NM_002690.3:c.895C>T, NM_002690.2:c.895C>T, XM_005273539.3:c.433C>T, XM_005273539.2:c.433C>T, XM_005273539.1:c.433C>T, XM_017013583.2:c.553C>T, XM_017013583.1:c.553C>T, XM_017013584.2:c.433C>T, XM_017013584.1:c.433C>T, XM_047421900.1:c.553C>T, XM_047421901.1:c.433C>T, XP_005273592.1:p.Arg334Cys, XP_005273593.1:p.Arg305Cys, XP_005273594.1:p.Arg270Cys, XP_005273597.1:p.Arg145Cys, XP_005273595.1:p.Arg185Cys, NP_002681.1:p.Arg299Cys, XP_005273596.1:p.Arg145Cys, XP_016869072.1:p.Arg185Cys, XP_016869073.1:p.Arg145Cys, XP_047277856.1:p.Arg185Cys, XP_047277857.1:p.Arg145Cys

                                      19.

                                      rs1433117126 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        8:42362633 (GRCh38)
                                        8:42220151 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:42362632:G:A
                                        Gene:
                                        POLB (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        A=0.000004/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000008.11:g.42362633G>A, NC_000008.10:g.42220151G>A, XM_005273535.5:c.748G>A, XM_005273535.4:c.748G>A, XM_005273535.3:c.748G>A, XM_005273535.2:c.748G>A, XM_005273535.1:c.748G>A, XM_005273540.5:c.181G>A, XM_005273540.4:c.181G>A, XM_005273540.3:c.181G>A, XM_005273540.2:c.181G>A, XM_005273540.1:c.181G>A, XM_005273538.3:c.301G>A, XM_005273538.2:c.301G>A, XM_005273538.1:c.301G>A, NM_002690.3:c.643G>A, NM_002690.2:c.643G>A, XM_005273539.3:c.181G>A, XM_005273539.2:c.181G>A, XM_005273539.1:c.181G>A, XM_017013583.2:c.301G>A, XM_017013583.1:c.301G>A, XM_017013584.2:c.181G>A, XM_017013584.1:c.181G>A, XM_047421900.1:c.301G>A, XM_047421901.1:c.181G>A, XP_005273592.1:p.Val250Met, XP_005273597.1:p.Val61Met, XP_005273595.1:p.Val101Met, NP_002681.1:p.Val215Met, XP_005273596.1:p.Val61Met, XP_016869072.1:p.Val101Met, XP_016869073.1:p.Val61Met, XP_047277856.1:p.Val101Met, XP_047277857.1:p.Val61Met

                                        20.

                                        rs1422239175 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          CCGCAG>- [Show Flanks]
                                          Chromosome:
                                          8:42338643 (GRCh38)
                                          8:42196161 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:42338641:GCCGCAG:G
                                          Gene:
                                          POLB (Varview)
                                          Functional Consequence:
                                          5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,inframe_deletion
                                          HGVS:
                                          NC_000008.11:g.42338643_42338648del, NC_000008.10:g.42196161_42196166del, XM_005273535.5:c.19_24del, XM_005273535.4:c.19_24del, XM_005273535.3:c.19_24del, XM_005273535.2:c.19_24del, XM_005273535.1:c.19_24del, XM_005273536.5:c.19_24del, XM_005273536.4:c.19_24del, XM_005273536.3:c.19_24del, XM_005273536.2:c.19_24del, XM_005273536.1:c.19_24del, XM_005273537.5:c.19_24del, XM_005273537.4:c.19_24del, XM_005273537.3:c.19_24del, XM_005273537.2:c.19_24del, XM_005273537.1:c.19_24del, XM_005273540.5:c.-202_-197del, XM_005273540.4:c.-202_-197del, XM_005273540.3:c.-202_-197del, XM_005273540.2:c.-202_-197del, XM_005273540.1:c.-202_-197del, XR_428311.4:n.150_155del, XR_428311.3:n.153_158del, XR_428311.2:n.186_191del, XR_428311.1:n.153_158del, XM_005273538.3:c.-371_-366del, XM_005273538.2:c.-371_-366del, XM_005273538.1:c.-371_-366del, NM_002690.3:c.19_24del, NM_002690.2:c.19_24del, XM_005273539.3:c.-386_-381del, XM_005273539.2:c.-386_-381del, XM_005273539.1:c.-386_-381del, XM_017013583.2:c.-237_-232del, XM_017013583.1:c.-237_-232del, XM_017013584.2:c.-252_-247del, XM_017013584.1:c.-252_-247del, XP_005273592.1:p.Pro7_Gln8del, XP_005273593.1:p.Pro7_Gln8del, XP_005273594.1:p.Pro7_Gln8del, NP_002681.1:p.Pro7_Gln8del

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