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Items: 1 to 20 of 1346

1.

rs1490327681 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>A,C [Show Flanks]
    Chromosome:
    19:50408860 (GRCh38)
    19:50912117 (GRCh37)
    Canonical SPDI:
    NC_000019.10:50408859:T:A,NC_000019.10:50408859:T:C
    Gene:
    POLD1 (Varview)
    Functional Consequence:
    non_coding_transcript_variant,stop_gained,synonymous_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000019.10:g.50408860T>A, NC_000019.10:g.50408860T>C, NC_000019.9:g.50912117T>A, NC_000019.9:g.50912117T>C, NG_033800.1:g.29538T>A, NG_033800.1:g.29538T>C, NM_002691.4:c.1851T>A, NM_002691.4:c.1851T>C, NM_002691.3:c.1851T>A, NM_002691.3:c.1851T>C, NR_046402.2:n.1896T>A, NR_046402.2:n.1896T>C, NR_046402.1:n.1920T>A, NR_046402.1:n.1920T>C, NM_001308632.1:c.1929T>A, NM_001308632.1:c.1929T>C, NM_001256849.1:c.1851T>A, NM_001256849.1:c.1851T>C, XM_005259008.5:c.1851T>A, XM_005259008.5:c.1851T>C, XM_005259008.4:c.1851T>A, XM_005259008.4:c.1851T>C, XM_005259008.3:c.1851T>A, XM_005259008.3:c.1851T>C, XM_005259008.2:c.1851T>A, XM_005259008.2:c.1851T>C, XM_005259008.1:c.1851T>A, XM_005259008.1:c.1851T>C, XM_017026882.3:c.1851T>A, XM_017026882.3:c.1851T>C, XM_017026882.2:c.1851T>A, XM_017026882.2:c.1851T>C, XM_017026882.1:c.1851T>A, XM_017026882.1:c.1851T>C, XR_935835.3:n.1920T>A, XR_935835.3:n.1920T>C, XR_935835.2:n.1952T>A, XR_935835.2:n.1952T>C, XR_935835.1:n.1953T>A, XR_935835.1:n.1953T>C, XM_011527038.2:c.1851T>A, XM_011527038.2:c.1851T>C, XM_011527038.1:c.1851T>A, XM_011527038.1:c.1851T>C, XM_047438947.1:c.1851T>A, XM_047438947.1:c.1851T>C, XM_047438949.1:c.1851T>A, XM_047438949.1:c.1851T>C, XM_047438946.1:c.1851T>A, XM_047438946.1:c.1851T>C, XM_047438948.1:c.1851T>A, XM_047438948.1:c.1851T>C, XM_047438950.1:c.1851T>A, XM_047438950.1:c.1851T>C, NP_002682.2:p.Cys617Ter, NP_001295561.1:p.Cys643Ter, NP_001243778.1:p.Cys617Ter, XP_005259065.1:p.Cys617Ter, XP_016882371.1:p.Cys617Ter, XP_011525340.1:p.Cys617Ter, XP_047294903.1:p.Cys617Ter, XP_047294905.1:p.Cys617Ter, XP_047294902.1:p.Cys617Ter, XP_047294904.1:p.Cys617Ter, XP_047294906.1:p.Cys617Ter

    2.

    rs1489903051 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      19:50401799 (GRCh38)
      19:50905056 (GRCh37)
      Canonical SPDI:
      NC_000019.10:50401798:G:A,NC_000019.10:50401798:G:T
      Gene:
      POLD1 (Varview)
      Functional Consequence:
      non_coding_transcript_variant,missense_variant,coding_sequence_variant
      Clinical significance:
      uncertain-significance
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000008/2 (GnomAD_exomes)
      HGVS:
      NC_000019.10:g.50401799G>A, NC_000019.10:g.50401799G>T, NC_000019.9:g.50905056G>A, NC_000019.9:g.50905056G>T, NG_033800.1:g.22477G>A, NG_033800.1:g.22477G>T, NM_002691.4:c.338G>A, NM_002691.4:c.338G>T, NM_002691.3:c.338G>A, NM_002691.3:c.338G>T, NR_046402.2:n.383G>A, NR_046402.2:n.383G>T, NR_046402.1:n.407G>A, NR_046402.1:n.407G>T, NM_001308632.1:c.338G>A, NM_001308632.1:c.338G>T, NM_001256849.1:c.338G>A, NM_001256849.1:c.338G>T, XM_005259008.5:c.338G>A, XM_005259008.5:c.338G>T, XM_005259008.4:c.338G>A, XM_005259008.4:c.338G>T, XM_005259008.3:c.338G>A, XM_005259008.3:c.338G>T, XM_005259008.2:c.338G>A, XM_005259008.2:c.338G>T, XM_005259008.1:c.338G>A, XM_005259008.1:c.338G>T, XM_017026882.3:c.338G>A, XM_017026882.3:c.338G>T, XM_017026882.2:c.338G>A, XM_017026882.2:c.338G>T, XM_017026882.1:c.338G>A, XM_017026882.1:c.338G>T, XR_935835.3:n.407G>A, XR_935835.3:n.407G>T, XR_935835.2:n.439G>A, XR_935835.2:n.439G>T, XR_935835.1:n.440G>A, XR_935835.1:n.440G>T, XM_011527038.2:c.338G>A, XM_011527038.2:c.338G>T, XM_011527038.1:c.338G>A, XM_011527038.1:c.338G>T, XM_047438947.1:c.338G>A, XM_047438947.1:c.338G>T, XM_047438949.1:c.338G>A, XM_047438949.1:c.338G>T, XM_047438946.1:c.338G>A, XM_047438946.1:c.338G>T, XM_047438948.1:c.338G>A, XM_047438948.1:c.338G>T, XM_047438950.1:c.338G>A, XM_047438950.1:c.338G>T, NP_002682.2:p.Gly113Glu, NP_002682.2:p.Gly113Val, NP_001295561.1:p.Gly113Glu, NP_001295561.1:p.Gly113Val, NP_001243778.1:p.Gly113Glu, NP_001243778.1:p.Gly113Val, XP_005259065.1:p.Gly113Glu, XP_005259065.1:p.Gly113Val, XP_016882371.1:p.Gly113Glu, XP_016882371.1:p.Gly113Val, XP_011525340.1:p.Gly113Glu, XP_011525340.1:p.Gly113Val, XP_047294903.1:p.Gly113Glu, XP_047294903.1:p.Gly113Val, XP_047294905.1:p.Gly113Glu, XP_047294905.1:p.Gly113Val, XP_047294902.1:p.Gly113Glu, XP_047294902.1:p.Gly113Val, XP_047294904.1:p.Gly113Glu, XP_047294904.1:p.Gly113Val, XP_047294906.1:p.Gly113Glu, XP_047294906.1:p.Gly113Val

      3.

      rs1489398122 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>A,G,T [Show Flanks]
        Chromosome:
        19:50416617 (GRCh38)
        19:50919874 (GRCh37)
        Canonical SPDI:
        NC_000019.10:50416616:C:A,NC_000019.10:50416616:C:G,NC_000019.10:50416616:C:T
        Gene:
        POLD1 (Varview)
        Functional Consequence:
        non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
        Clinical significance:
        uncertain-significance,likely-benign
        Validated:
        by cluster
        HGVS:
        NC_000019.10:g.50416617C>A, NC_000019.10:g.50416617C>G, NC_000019.10:g.50416617C>T, NC_000019.9:g.50919874C>A, NC_000019.9:g.50919874C>G, NC_000019.9:g.50919874C>T, NG_033800.1:g.37295C>A, NG_033800.1:g.37295C>G, NG_033800.1:g.37295C>T, NM_002691.4:c.2961C>A, NM_002691.4:c.2961C>G, NM_002691.4:c.2961C>T, NM_002691.3:c.2961C>A, NM_002691.3:c.2961C>G, NM_002691.3:c.2961C>T, NR_046402.2:n.2903C>A, NR_046402.2:n.2903C>G, NR_046402.2:n.2903C>T, NR_046402.1:n.2927C>A, NR_046402.1:n.2927C>G, NR_046402.1:n.2927C>T, NM_001308632.1:c.3039C>A, NM_001308632.1:c.3039C>G, NM_001308632.1:c.3039C>T, NM_001256849.1:c.2961C>A, NM_001256849.1:c.2961C>G, NM_001256849.1:c.2961C>T, XM_005259008.5:c.2889C>A, XM_005259008.5:c.2889C>G, XM_005259008.5:c.2889C>T, XM_005259008.4:c.2889C>A, XM_005259008.4:c.2889C>G, XM_005259008.4:c.2889C>T, XM_005259008.3:c.2889C>A, XM_005259008.3:c.2889C>G, XM_005259008.3:c.2889C>T, XM_005259008.2:c.2889C>A, XM_005259008.2:c.2889C>G, XM_005259008.2:c.2889C>T, XM_005259008.1:c.2889C>A, XM_005259008.1:c.2889C>G, XM_005259008.1:c.2889C>T, XM_017026882.3:c.2889C>A, XM_017026882.3:c.2889C>G, XM_017026882.3:c.2889C>T, XM_017026882.2:c.2889C>A, XM_017026882.2:c.2889C>G, XM_017026882.2:c.2889C>T, XM_017026882.1:c.2889C>A, XM_017026882.1:c.2889C>G, XM_017026882.1:c.2889C>T, XM_011527038.2:c.2961C>A, XM_011527038.2:c.2961C>G, XM_011527038.2:c.2961C>T, XM_011527038.1:c.2961C>A, XM_011527038.1:c.2961C>G, XM_011527038.1:c.2961C>T, XM_047438947.1:c.2961C>A, XM_047438947.1:c.2961C>G, XM_047438947.1:c.2961C>T, XM_047438949.1:c.2889C>A, XM_047438949.1:c.2889C>G, XM_047438949.1:c.2889C>T, XM_047438946.1:c.2961C>A, XM_047438946.1:c.2961C>G, XM_047438946.1:c.2961C>T, XM_047438948.1:c.2889C>A, XM_047438948.1:c.2889C>G, XM_047438948.1:c.2889C>T, XM_047438950.1:c.2889C>A, XM_047438950.1:c.2889C>G, XM_047438950.1:c.2889C>T, NP_002682.2:p.Asp987Glu, NP_002682.2:p.Asp987Glu, NP_001295561.1:p.Asp1013Glu, NP_001295561.1:p.Asp1013Glu, NP_001243778.1:p.Asp987Glu, NP_001243778.1:p.Asp987Glu, XP_005259065.1:p.Asp963Glu, XP_005259065.1:p.Asp963Glu, XP_016882371.1:p.Asp963Glu, XP_016882371.1:p.Asp963Glu, XP_011525340.1:p.Asp987Glu, XP_011525340.1:p.Asp987Glu, XP_047294903.1:p.Asp987Glu, XP_047294903.1:p.Asp987Glu, XP_047294905.1:p.Asp963Glu, XP_047294905.1:p.Asp963Glu, XP_047294902.1:p.Asp987Glu, XP_047294902.1:p.Asp987Glu, XP_047294904.1:p.Asp963Glu, XP_047294904.1:p.Asp963Glu, XP_047294906.1:p.Asp963Glu, XP_047294906.1:p.Asp963Glu

        4.

        rs1489210103 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          19:50407166 (GRCh38)
          19:50910423 (GRCh37)
          Canonical SPDI:
          NC_000019.10:50407165:T:C
          Gene:
          POLD1 (Varview)
          Functional Consequence:
          non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:

          5.

          rs1489180867 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G,T [Show Flanks]
            Chromosome:
            19:50406466 (GRCh38)
            19:50909723 (GRCh37)
            Canonical SPDI:
            NC_000019.10:50406465:C:G,NC_000019.10:50406465:C:T
            Gene:
            POLD1 (Varview)
            Functional Consequence:
            non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
            Clinical significance:
            likely-benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            T=0./0 (ALFA)
            G=0.000004/1 (GnomAD_exomes)
            T=0.000004/1 (TOPMED)
            HGVS:
            NC_000019.10:g.50406466C>G, NC_000019.10:g.50406466C>T, NC_000019.9:g.50909723C>G, NC_000019.9:g.50909723C>T, NG_033800.1:g.27144C>G, NG_033800.1:g.27144C>T, NM_002691.4:c.1443C>G, NM_002691.4:c.1443C>T, NM_002691.3:c.1443C>G, NM_002691.3:c.1443C>T, NR_046402.2:n.1488C>G, NR_046402.2:n.1488C>T, NR_046402.1:n.1512C>G, NR_046402.1:n.1512C>T, NM_001308632.1:c.1443C>G, NM_001308632.1:c.1443C>T, NM_001256849.1:c.1443C>G, NM_001256849.1:c.1443C>T, XM_005259008.5:c.1443C>G, XM_005259008.5:c.1443C>T, XM_005259008.4:c.1443C>G, XM_005259008.4:c.1443C>T, XM_005259008.3:c.1443C>G, XM_005259008.3:c.1443C>T, XM_005259008.2:c.1443C>G, XM_005259008.2:c.1443C>T, XM_005259008.1:c.1443C>G, XM_005259008.1:c.1443C>T, XM_017026882.3:c.1443C>G, XM_017026882.3:c.1443C>T, XM_017026882.2:c.1443C>G, XM_017026882.2:c.1443C>T, XM_017026882.1:c.1443C>G, XM_017026882.1:c.1443C>T, XR_935835.3:n.1512C>G, XR_935835.3:n.1512C>T, XR_935835.2:n.1544C>G, XR_935835.2:n.1544C>T, XR_935835.1:n.1545C>G, XR_935835.1:n.1545C>T, XM_011527038.2:c.1443C>G, XM_011527038.2:c.1443C>T, XM_011527038.1:c.1443C>G, XM_011527038.1:c.1443C>T, XM_047438947.1:c.1443C>G, XM_047438947.1:c.1443C>T, XM_047438949.1:c.1443C>G, XM_047438949.1:c.1443C>T, XM_047438946.1:c.1443C>G, XM_047438946.1:c.1443C>T, XM_047438948.1:c.1443C>G, XM_047438948.1:c.1443C>T, XM_047438950.1:c.1443C>G, XM_047438950.1:c.1443C>T, NP_002682.2:p.Phe481Leu, NP_001295561.1:p.Phe481Leu, NP_001243778.1:p.Phe481Leu, XP_005259065.1:p.Phe481Leu, XP_016882371.1:p.Phe481Leu, XP_011525340.1:p.Phe481Leu, XP_047294903.1:p.Phe481Leu, XP_047294905.1:p.Phe481Leu, XP_047294902.1:p.Phe481Leu, XP_047294904.1:p.Phe481Leu, XP_047294906.1:p.Phe481Leu

            6.

            rs1489140479 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              19:50417056 (GRCh38)
              19:50920313 (GRCh37)
              Canonical SPDI:
              NC_000019.10:50417055:G:A
              Gene:
              POLD1 (Varview), SPIB (Varview)
              Functional Consequence:
              2KB_upstream_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000019.10:g.50417056G>A, NC_000019.9:g.50920313G>A, NG_033800.1:g.37734G>A, NM_002691.4:c.3079G>A, NM_002691.3:c.3079G>A, NR_046402.2:n.3021G>A, NR_046402.1:n.3045G>A, NM_001308632.1:c.3157G>A, NM_001256849.1:c.3079G>A, XM_005259008.5:c.3007G>A, XM_005259008.4:c.3007G>A, XM_005259008.3:c.3007G>A, XM_005259008.2:c.3007G>A, XM_005259008.1:c.3007G>A, XM_017026882.3:c.3007G>A, XM_017026882.2:c.3007G>A, XM_017026882.1:c.3007G>A, XM_011527038.2:c.3079G>A, XM_011527038.1:c.3079G>A, XM_047438947.1:c.3079G>A, XM_047438949.1:c.3007G>A, XM_047438946.1:c.3079G>A, XM_047438948.1:c.3007G>A, XM_047438950.1:c.3007G>A, NP_002682.2:p.Glu1027Lys, NP_001295561.1:p.Glu1053Lys, NP_001243778.1:p.Glu1027Lys, XP_005259065.1:p.Glu1003Lys, XP_016882371.1:p.Glu1003Lys, XP_011525340.1:p.Glu1027Lys, XP_047294903.1:p.Glu1027Lys, XP_047294905.1:p.Glu1003Lys, XP_047294902.1:p.Glu1027Lys, XP_047294904.1:p.Glu1003Lys, XP_047294906.1:p.Glu1003Lys

              7.

              rs1488821062 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A,C,T [Show Flanks]
                Chromosome:
                19:50402729 (GRCh38)
                19:50905986 (GRCh37)
                Canonical SPDI:
                NC_000019.10:50402728:G:A,NC_000019.10:50402728:G:C,NC_000019.10:50402728:G:T
                Gene:
                POLD1 (Varview)
                Functional Consequence:
                non_coding_transcript_variant,missense_variant,coding_sequence_variant
                Clinical significance:
                uncertain-significance
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.000094/1 (ALFA)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                A=0.000026/7 (TOPMED)
                HGVS:
                NC_000019.10:g.50402729G>A, NC_000019.10:g.50402729G>C, NC_000019.10:g.50402729G>T, NC_000019.9:g.50905986G>A, NC_000019.9:g.50905986G>C, NC_000019.9:g.50905986G>T, NG_033800.1:g.23407G>A, NG_033800.1:g.23407G>C, NG_033800.1:g.23407G>T, NM_002691.4:c.958G>A, NM_002691.4:c.958G>C, NM_002691.4:c.958G>T, NM_002691.3:c.958G>A, NM_002691.3:c.958G>C, NM_002691.3:c.958G>T, NR_046402.2:n.1003G>A, NR_046402.2:n.1003G>C, NR_046402.2:n.1003G>T, NR_046402.1:n.1027G>A, NR_046402.1:n.1027G>C, NR_046402.1:n.1027G>T, NM_001308632.1:c.958G>A, NM_001308632.1:c.958G>C, NM_001308632.1:c.958G>T, NM_001256849.1:c.958G>A, NM_001256849.1:c.958G>C, NM_001256849.1:c.958G>T, XM_005259008.5:c.958G>A, XM_005259008.5:c.958G>C, XM_005259008.5:c.958G>T, XM_005259008.4:c.958G>A, XM_005259008.4:c.958G>C, XM_005259008.4:c.958G>T, XM_005259008.3:c.958G>A, XM_005259008.3:c.958G>C, XM_005259008.3:c.958G>T, XM_005259008.2:c.958G>A, XM_005259008.2:c.958G>C, XM_005259008.2:c.958G>T, XM_005259008.1:c.958G>A, XM_005259008.1:c.958G>C, XM_005259008.1:c.958G>T, XM_017026882.3:c.958G>A, XM_017026882.3:c.958G>C, XM_017026882.3:c.958G>T, XM_017026882.2:c.958G>A, XM_017026882.2:c.958G>C, XM_017026882.2:c.958G>T, XM_017026882.1:c.958G>A, XM_017026882.1:c.958G>C, XM_017026882.1:c.958G>T, XR_935835.3:n.1027G>A, XR_935835.3:n.1027G>C, XR_935835.3:n.1027G>T, XR_935835.2:n.1059G>A, XR_935835.2:n.1059G>C, XR_935835.2:n.1059G>T, XR_935835.1:n.1060G>A, XR_935835.1:n.1060G>C, XR_935835.1:n.1060G>T, XM_011527038.2:c.958G>A, XM_011527038.2:c.958G>C, XM_011527038.2:c.958G>T, XM_011527038.1:c.958G>A, XM_011527038.1:c.958G>C, XM_011527038.1:c.958G>T, XM_047438947.1:c.958G>A, XM_047438947.1:c.958G>C, XM_047438947.1:c.958G>T, XM_047438949.1:c.958G>A, XM_047438949.1:c.958G>C, XM_047438949.1:c.958G>T, XM_047438946.1:c.958G>A, XM_047438946.1:c.958G>C, XM_047438946.1:c.958G>T, XM_047438948.1:c.958G>A, XM_047438948.1:c.958G>C, XM_047438948.1:c.958G>T, XM_047438950.1:c.958G>A, XM_047438950.1:c.958G>C, XM_047438950.1:c.958G>T, NP_002682.2:p.Ala320Thr, NP_002682.2:p.Ala320Pro, NP_002682.2:p.Ala320Ser, NP_001295561.1:p.Ala320Thr, NP_001295561.1:p.Ala320Pro, NP_001295561.1:p.Ala320Ser, NP_001243778.1:p.Ala320Thr, NP_001243778.1:p.Ala320Pro, NP_001243778.1:p.Ala320Ser, XP_005259065.1:p.Ala320Thr, XP_005259065.1:p.Ala320Pro, XP_005259065.1:p.Ala320Ser, XP_016882371.1:p.Ala320Thr, XP_016882371.1:p.Ala320Pro, XP_016882371.1:p.Ala320Ser, XP_011525340.1:p.Ala320Thr, XP_011525340.1:p.Ala320Pro, XP_011525340.1:p.Ala320Ser, XP_047294903.1:p.Ala320Thr, XP_047294903.1:p.Ala320Pro, XP_047294903.1:p.Ala320Ser, XP_047294905.1:p.Ala320Thr, XP_047294905.1:p.Ala320Pro, XP_047294905.1:p.Ala320Ser, XP_047294902.1:p.Ala320Thr, XP_047294902.1:p.Ala320Pro, XP_047294902.1:p.Ala320Ser, XP_047294904.1:p.Ala320Thr, XP_047294904.1:p.Ala320Pro, XP_047294904.1:p.Ala320Ser, XP_047294906.1:p.Ala320Thr, XP_047294906.1:p.Ala320Pro, XP_047294906.1:p.Ala320Ser

                8.

                rs1487584298 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  19:50416402 (GRCh38)
                  19:50919659 (GRCh37)
                  Canonical SPDI:
                  NC_000019.10:50416401:C:T
                  Gene:
                  POLD1 (Varview)
                  Functional Consequence:
                  non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Clinical significance:
                  likely-benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000007/1 (GnomAD)
                  HGVS:

                  9.

                  rs1487474161 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C,T [Show Flanks]
                    Chromosome:
                    19:50413820 (GRCh38)
                    19:50917077 (GRCh37)
                    Canonical SPDI:
                    NC_000019.10:50413819:G:A,NC_000019.10:50413819:G:C,NC_000019.10:50413819:G:T
                    Gene:
                    POLD1 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,stop_gained
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000019.10:g.50413820G>A, NC_000019.10:g.50413820G>C, NC_000019.10:g.50413820G>T, NC_000019.9:g.50917077G>A, NC_000019.9:g.50917077G>C, NC_000019.9:g.50917077G>T, NG_033800.1:g.34498G>A, NG_033800.1:g.34498G>C, NG_033800.1:g.34498G>T, NM_002691.4:c.2329G>A, NM_002691.4:c.2329G>C, NM_002691.4:c.2329G>T, NM_002691.3:c.2329G>A, NM_002691.3:c.2329G>C, NM_002691.3:c.2329G>T, NR_046402.2:n.2374G>A, NR_046402.2:n.2374G>C, NR_046402.2:n.2374G>T, NR_046402.1:n.2398G>A, NR_046402.1:n.2398G>C, NR_046402.1:n.2398G>T, NM_001308632.1:c.2407G>A, NM_001308632.1:c.2407G>C, NM_001308632.1:c.2407G>T, NM_001256849.1:c.2329G>A, NM_001256849.1:c.2329G>C, NM_001256849.1:c.2329G>T, XM_005259008.5:c.2257G>A, XM_005259008.5:c.2257G>C, XM_005259008.5:c.2257G>T, XM_005259008.4:c.2257G>A, XM_005259008.4:c.2257G>C, XM_005259008.4:c.2257G>T, XM_005259008.3:c.2257G>A, XM_005259008.3:c.2257G>C, XM_005259008.3:c.2257G>T, XM_005259008.2:c.2257G>A, XM_005259008.2:c.2257G>C, XM_005259008.2:c.2257G>T, XM_005259008.1:c.2257G>A, XM_005259008.1:c.2257G>C, XM_005259008.1:c.2257G>T, XM_017026882.3:c.2257G>A, XM_017026882.3:c.2257G>C, XM_017026882.3:c.2257G>T, XM_017026882.2:c.2257G>A, XM_017026882.2:c.2257G>C, XM_017026882.2:c.2257G>T, XM_017026882.1:c.2257G>A, XM_017026882.1:c.2257G>C, XM_017026882.1:c.2257G>T, XM_011527038.2:c.2329G>A, XM_011527038.2:c.2329G>C, XM_011527038.2:c.2329G>T, XM_011527038.1:c.2329G>A, XM_011527038.1:c.2329G>C, XM_011527038.1:c.2329G>T, XM_047438947.1:c.2329G>A, XM_047438947.1:c.2329G>C, XM_047438947.1:c.2329G>T, XM_047438949.1:c.2257G>A, XM_047438949.1:c.2257G>C, XM_047438949.1:c.2257G>T, XM_047438946.1:c.2329G>A, XM_047438946.1:c.2329G>C, XM_047438946.1:c.2329G>T, XM_047438948.1:c.2257G>A, XM_047438948.1:c.2257G>C, XM_047438948.1:c.2257G>T, XM_047438950.1:c.2257G>A, XM_047438950.1:c.2257G>C, XM_047438950.1:c.2257G>T, NP_002682.2:p.Glu777Lys, NP_002682.2:p.Glu777Gln, NP_002682.2:p.Glu777Ter, NP_001295561.1:p.Glu803Lys, NP_001295561.1:p.Glu803Gln, NP_001295561.1:p.Glu803Ter, NP_001243778.1:p.Glu777Lys, NP_001243778.1:p.Glu777Gln, NP_001243778.1:p.Glu777Ter, XP_005259065.1:p.Glu753Lys, XP_005259065.1:p.Glu753Gln, XP_005259065.1:p.Glu753Ter, XP_016882371.1:p.Glu753Lys, XP_016882371.1:p.Glu753Gln, XP_016882371.1:p.Glu753Ter, XP_011525340.1:p.Glu777Lys, XP_011525340.1:p.Glu777Gln, XP_011525340.1:p.Glu777Ter, XP_047294903.1:p.Glu777Lys, XP_047294903.1:p.Glu777Gln, XP_047294903.1:p.Glu777Ter, XP_047294905.1:p.Glu753Lys, XP_047294905.1:p.Glu753Gln, XP_047294905.1:p.Glu753Ter, XP_047294902.1:p.Glu777Lys, XP_047294902.1:p.Glu777Gln, XP_047294902.1:p.Glu777Ter, XP_047294904.1:p.Glu753Lys, XP_047294904.1:p.Glu753Gln, XP_047294904.1:p.Glu753Ter, XP_047294906.1:p.Glu753Lys, XP_047294906.1:p.Glu753Gln, XP_047294906.1:p.Glu753Ter

                    10.

                    rs1486924942 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>T [Show Flanks]
                      Chromosome:
                      19:50398961 (GRCh38)
                      19:50902218 (GRCh37)
                      Canonical SPDI:
                      NC_000019.10:50398960:A:T
                      Gene:
                      POLD1 (Varview)
                      Functional Consequence:
                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000019.10:g.50398961A>T, NC_000019.9:g.50902218A>T, NG_033800.1:g.19639A>T, NM_002691.4:c.110A>T, NM_002691.3:c.110A>T, NR_046402.2:n.155A>T, NR_046402.1:n.179A>T, NM_001308632.1:c.110A>T, NM_001256849.1:c.110A>T, XM_005259008.5:c.110A>T, XM_005259008.4:c.110A>T, XM_005259008.3:c.110A>T, XM_005259008.2:c.110A>T, XM_005259008.1:c.110A>T, XM_017026882.3:c.110A>T, XM_017026882.2:c.110A>T, XM_017026882.1:c.110A>T, XR_935835.3:n.179A>T, XR_935835.2:n.211A>T, XR_935835.1:n.212A>T, XM_011527038.2:c.110A>T, XM_011527038.1:c.110A>T, XM_047438947.1:c.110A>T, XM_047438949.1:c.110A>T, XM_047438946.1:c.110A>T, XM_047438948.1:c.110A>T, XM_047438950.1:c.110A>T, NP_002682.2:p.Asp37Val, NP_001295561.1:p.Asp37Val, NP_001243778.1:p.Asp37Val, XP_005259065.1:p.Asp37Val, XP_016882371.1:p.Asp37Val, XP_011525340.1:p.Asp37Val, XP_047294903.1:p.Asp37Val, XP_047294905.1:p.Asp37Val, XP_047294902.1:p.Asp37Val, XP_047294904.1:p.Asp37Val, XP_047294906.1:p.Asp37Val

                      11.

                      rs1485581703 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        19:50407078 (GRCh38)
                        19:50910335 (GRCh37)
                        Canonical SPDI:
                        NC_000019.10:50407077:G:A
                        Gene:
                        POLD1 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000007/1 (GnomAD)
                        A=0.000008/2 (TOPMED)
                        HGVS:

                        12.

                        rs1484596172 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>G,T [Show Flanks]
                          Chromosome:
                          19:50398963 (GRCh38)
                          19:50902220 (GRCh37)
                          Canonical SPDI:
                          NC_000019.10:50398962:C:G,NC_000019.10:50398962:C:T
                          Gene:
                          POLD1 (Varview)
                          Functional Consequence:
                          non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                          Clinical significance:
                          uncertain-significance
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000019.10:g.50398963C>G, NC_000019.10:g.50398963C>T, NC_000019.9:g.50902220C>G, NC_000019.9:g.50902220C>T, NG_033800.1:g.19641C>G, NG_033800.1:g.19641C>T, NM_002691.4:c.112C>G, NM_002691.4:c.112C>T, NM_002691.3:c.112C>G, NM_002691.3:c.112C>T, NR_046402.2:n.157C>G, NR_046402.2:n.157C>T, NR_046402.1:n.181C>G, NR_046402.1:n.181C>T, NM_001308632.1:c.112C>G, NM_001308632.1:c.112C>T, NM_001256849.1:c.112C>G, NM_001256849.1:c.112C>T, XM_005259008.5:c.112C>G, XM_005259008.5:c.112C>T, XM_005259008.4:c.112C>G, XM_005259008.4:c.112C>T, XM_005259008.3:c.112C>G, XM_005259008.3:c.112C>T, XM_005259008.2:c.112C>G, XM_005259008.2:c.112C>T, XM_005259008.1:c.112C>G, XM_005259008.1:c.112C>T, XM_017026882.3:c.112C>G, XM_017026882.3:c.112C>T, XM_017026882.2:c.112C>G, XM_017026882.2:c.112C>T, XM_017026882.1:c.112C>G, XM_017026882.1:c.112C>T, XR_935835.3:n.181C>G, XR_935835.3:n.181C>T, XR_935835.2:n.213C>G, XR_935835.2:n.213C>T, XR_935835.1:n.214C>G, XR_935835.1:n.214C>T, XM_011527038.2:c.112C>G, XM_011527038.2:c.112C>T, XM_011527038.1:c.112C>G, XM_011527038.1:c.112C>T, XM_047438947.1:c.112C>G, XM_047438947.1:c.112C>T, XM_047438949.1:c.112C>G, XM_047438949.1:c.112C>T, XM_047438946.1:c.112C>G, XM_047438946.1:c.112C>T, XM_047438948.1:c.112C>G, XM_047438948.1:c.112C>T, XM_047438950.1:c.112C>G, XM_047438950.1:c.112C>T, NP_002682.2:p.Leu38Val, NP_001295561.1:p.Leu38Val, NP_001243778.1:p.Leu38Val, XP_005259065.1:p.Leu38Val, XP_016882371.1:p.Leu38Val, XP_011525340.1:p.Leu38Val, XP_047294903.1:p.Leu38Val, XP_047294905.1:p.Leu38Val, XP_047294902.1:p.Leu38Val, XP_047294904.1:p.Leu38Val, XP_047294906.1:p.Leu38Val

                          13.

                          rs1483458869 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            19:50415750 (GRCh38)
                            19:50919007 (GRCh37)
                            Canonical SPDI:
                            NC_000019.10:50415749:C:T
                            Gene:
                            POLD1 (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
                            Clinical significance:
                            uncertain-significance
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000019.10:g.50415750C>T, NC_000019.9:g.50919007C>T, NG_033800.1:g.36428C>T, NM_002691.4:c.2744C>T, NM_002691.3:c.2744C>T, NM_001308632.1:c.2822C>T, NM_001256849.1:c.2744C>T, XM_005259008.5:c.2672C>T, XM_005259008.4:c.2672C>T, XM_005259008.3:c.2672C>T, XM_005259008.2:c.2672C>T, XM_005259008.1:c.2672C>T, XM_017026882.3:c.2672C>T, XM_017026882.2:c.2672C>T, XM_017026882.1:c.2672C>T, XM_011527038.2:c.2744C>T, XM_011527038.1:c.2744C>T, XM_047438947.1:c.2744C>T, XM_047438949.1:c.2672C>T, XM_047438946.1:c.2744C>T, XM_047438948.1:c.2672C>T, XM_047438950.1:c.2672C>T, NP_002682.2:p.Ala915Val, NP_001295561.1:p.Ala941Val, NP_001243778.1:p.Ala915Val, XP_005259065.1:p.Ala891Val, XP_016882371.1:p.Ala891Val, XP_011525340.1:p.Ala915Val, XP_047294903.1:p.Ala915Val, XP_047294905.1:p.Ala891Val, XP_047294902.1:p.Ala915Val, XP_047294904.1:p.Ala891Val, XP_047294906.1:p.Ala891Val

                            14.

                            rs1481192588 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C,G [Show Flanks]
                              Chromosome:
                              19:50406464 (GRCh38)
                              19:50909721 (GRCh37)
                              Canonical SPDI:
                              NC_000019.10:50406463:T:C,NC_000019.10:50406463:T:G
                              Gene:
                              POLD1 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,missense_variant,coding_sequence_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000019.10:g.50406464T>C, NC_000019.10:g.50406464T>G, NC_000019.9:g.50909721T>C, NC_000019.9:g.50909721T>G, NG_033800.1:g.27142T>C, NG_033800.1:g.27142T>G, NM_002691.4:c.1441T>C, NM_002691.4:c.1441T>G, NM_002691.3:c.1441T>C, NM_002691.3:c.1441T>G, NR_046402.2:n.1486T>C, NR_046402.2:n.1486T>G, NR_046402.1:n.1510T>C, NR_046402.1:n.1510T>G, NM_001308632.1:c.1441T>C, NM_001308632.1:c.1441T>G, NM_001256849.1:c.1441T>C, NM_001256849.1:c.1441T>G, XM_005259008.5:c.1441T>C, XM_005259008.5:c.1441T>G, XM_005259008.4:c.1441T>C, XM_005259008.4:c.1441T>G, XM_005259008.3:c.1441T>C, XM_005259008.3:c.1441T>G, XM_005259008.2:c.1441T>C, XM_005259008.2:c.1441T>G, XM_005259008.1:c.1441T>C, XM_005259008.1:c.1441T>G, XM_017026882.3:c.1441T>C, XM_017026882.3:c.1441T>G, XM_017026882.2:c.1441T>C, XM_017026882.2:c.1441T>G, XM_017026882.1:c.1441T>C, XM_017026882.1:c.1441T>G, XR_935835.3:n.1510T>C, XR_935835.3:n.1510T>G, XR_935835.2:n.1542T>C, XR_935835.2:n.1542T>G, XR_935835.1:n.1543T>C, XR_935835.1:n.1543T>G, XM_011527038.2:c.1441T>C, XM_011527038.2:c.1441T>G, XM_011527038.1:c.1441T>C, XM_011527038.1:c.1441T>G, XM_047438947.1:c.1441T>C, XM_047438947.1:c.1441T>G, XM_047438949.1:c.1441T>C, XM_047438949.1:c.1441T>G, XM_047438946.1:c.1441T>C, XM_047438946.1:c.1441T>G, XM_047438948.1:c.1441T>C, XM_047438948.1:c.1441T>G, XM_047438950.1:c.1441T>C, XM_047438950.1:c.1441T>G, NP_002682.2:p.Phe481Leu, NP_002682.2:p.Phe481Val, NP_001295561.1:p.Phe481Leu, NP_001295561.1:p.Phe481Val, NP_001243778.1:p.Phe481Leu, NP_001243778.1:p.Phe481Val, XP_005259065.1:p.Phe481Leu, XP_005259065.1:p.Phe481Val, XP_016882371.1:p.Phe481Leu, XP_016882371.1:p.Phe481Val, XP_011525340.1:p.Phe481Leu, XP_011525340.1:p.Phe481Val, XP_047294903.1:p.Phe481Leu, XP_047294903.1:p.Phe481Val, XP_047294905.1:p.Phe481Leu, XP_047294905.1:p.Phe481Val, XP_047294902.1:p.Phe481Leu, XP_047294902.1:p.Phe481Val, XP_047294904.1:p.Phe481Leu, XP_047294904.1:p.Phe481Val, XP_047294906.1:p.Phe481Leu, XP_047294906.1:p.Phe481Val

                              15.

                              rs1479865221 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                19:50398980 (GRCh38)
                                19:50902237 (GRCh37)
                                Canonical SPDI:
                                NC_000019.10:50398979:G:A
                                Gene:
                                POLD1 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                Clinical significance:
                                uncertain-significance,likely-benign
                                HGVS:

                                16.

                                rs1479695664 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  19:50413470 (GRCh38)
                                  19:50916727 (GRCh37)
                                  Canonical SPDI:
                                  NC_000019.10:50413469:G:A,NC_000019.10:50413469:G:T
                                  Gene:
                                  POLD1 (Varview)
                                  Functional Consequence:
                                  non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
                                  Clinical significance:
                                  likely-benign
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000019.10:g.50413470G>A, NC_000019.10:g.50413470G>T, NC_000019.9:g.50916727G>A, NC_000019.9:g.50916727G>T, NG_033800.1:g.34148G>A, NG_033800.1:g.34148G>T, NM_002691.4:c.2199G>A, NM_002691.4:c.2199G>T, NM_002691.3:c.2199G>A, NM_002691.3:c.2199G>T, NR_046402.2:n.2244G>A, NR_046402.2:n.2244G>T, NR_046402.1:n.2268G>A, NR_046402.1:n.2268G>T, NM_001308632.1:c.2277G>A, NM_001308632.1:c.2277G>T, NM_001256849.1:c.2199G>A, NM_001256849.1:c.2199G>T, XM_005259008.5:c.2127G>A, XM_005259008.5:c.2127G>T, XM_005259008.4:c.2127G>A, XM_005259008.4:c.2127G>T, XM_005259008.3:c.2127G>A, XM_005259008.3:c.2127G>T, XM_005259008.2:c.2127G>A, XM_005259008.2:c.2127G>T, XM_005259008.1:c.2127G>A, XM_005259008.1:c.2127G>T, XM_017026882.3:c.2127G>A, XM_017026882.3:c.2127G>T, XM_017026882.2:c.2127G>A, XM_017026882.2:c.2127G>T, XM_017026882.1:c.2127G>A, XM_017026882.1:c.2127G>T, XR_935835.3:n.2352G>A, XR_935835.3:n.2352G>T, XR_935835.2:n.2384G>A, XR_935835.2:n.2384G>T, XR_935835.1:n.2385G>A, XR_935835.1:n.2385G>T, XM_011527038.2:c.2199G>A, XM_011527038.2:c.2199G>T, XM_011527038.1:c.2199G>A, XM_011527038.1:c.2199G>T, XM_047438947.1:c.2199G>A, XM_047438947.1:c.2199G>T, XM_047438949.1:c.2127G>A, XM_047438949.1:c.2127G>T, XM_047438946.1:c.2199G>A, XM_047438946.1:c.2199G>T, XM_047438948.1:c.2127G>A, XM_047438948.1:c.2127G>T, XM_047438950.1:c.2127G>A, XM_047438950.1:c.2127G>T, NP_002682.2:p.Gln733His, NP_001295561.1:p.Gln759His, NP_001243778.1:p.Gln733His, XP_005259065.1:p.Gln709His, XP_016882371.1:p.Gln709His, XP_011525340.1:p.Gln733His, XP_047294903.1:p.Gln733His, XP_047294905.1:p.Gln709His, XP_047294902.1:p.Gln733His, XP_047294904.1:p.Gln709His, XP_047294906.1:p.Gln709His

                                  17.

                                  rs1478772104 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    19:50407411 (GRCh38)
                                    19:50910668 (GRCh37)
                                    Canonical SPDI:
                                    NC_000019.10:50407410:A:G
                                    Gene:
                                    POLD1 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    G=0.000047/1 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000019.10:g.50407411A>G, NC_000019.9:g.50910668A>G, NG_033800.1:g.28089A>G, NM_002691.4:c.1771A>G, NM_002691.3:c.1771A>G, NR_046402.2:n.1816A>G, NR_046402.1:n.1840A>G, NM_001308632.1:c.1771A>G, NM_001256849.1:c.1771A>G, XM_005259008.5:c.1771A>G, XM_005259008.4:c.1771A>G, XM_005259008.3:c.1771A>G, XM_005259008.2:c.1771A>G, XM_005259008.1:c.1771A>G, XM_017026882.3:c.1771A>G, XM_017026882.2:c.1771A>G, XM_017026882.1:c.1771A>G, XR_935835.3:n.1840A>G, XR_935835.2:n.1872A>G, XR_935835.1:n.1873A>G, XM_011527038.2:c.1771A>G, XM_011527038.1:c.1771A>G, XM_047438947.1:c.1771A>G, XM_047438949.1:c.1771A>G, XM_047438946.1:c.1771A>G, XM_047438948.1:c.1771A>G, XM_047438950.1:c.1771A>G, NP_002682.2:p.Lys591Glu, NP_001295561.1:p.Lys591Glu, NP_001243778.1:p.Lys591Glu, XP_005259065.1:p.Lys591Glu, XP_016882371.1:p.Lys591Glu, XP_011525340.1:p.Lys591Glu, XP_047294903.1:p.Lys591Glu, XP_047294905.1:p.Lys591Glu, XP_047294902.1:p.Lys591Glu, XP_047294904.1:p.Lys591Glu, XP_047294906.1:p.Lys591Glu

                                    18.

                                    rs1478459957 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      19:50406482 (GRCh38)
                                      19:50909739 (GRCh37)
                                      Canonical SPDI:
                                      NC_000019.10:50406481:G:A
                                      Gene:
                                      POLD1 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                      HGVS:
                                      NC_000019.10:g.50406482G>A, NC_000019.9:g.50909739G>A, NG_033800.1:g.27160G>A, NM_002691.4:c.1459G>A, NM_002691.3:c.1459G>A, NR_046402.2:n.1504G>A, NR_046402.1:n.1528G>A, NM_001308632.1:c.1459G>A, NM_001256849.1:c.1459G>A, XM_005259008.5:c.1459G>A, XM_005259008.4:c.1459G>A, XM_005259008.3:c.1459G>A, XM_005259008.2:c.1459G>A, XM_005259008.1:c.1459G>A, XM_017026882.3:c.1459G>A, XM_017026882.2:c.1459G>A, XM_017026882.1:c.1459G>A, XR_935835.3:n.1528G>A, XR_935835.2:n.1560G>A, XR_935835.1:n.1561G>A, XM_011527038.2:c.1459G>A, XM_011527038.1:c.1459G>A, XM_047438947.1:c.1459G>A, XM_047438949.1:c.1459G>A, XM_047438946.1:c.1459G>A, XM_047438948.1:c.1459G>A, XM_047438950.1:c.1459G>A, NP_002682.2:p.Glu487Lys, NP_001295561.1:p.Glu487Lys, NP_001243778.1:p.Glu487Lys, XP_005259065.1:p.Glu487Lys, XP_016882371.1:p.Glu487Lys, XP_011525340.1:p.Glu487Lys, XP_047294903.1:p.Glu487Lys, XP_047294905.1:p.Glu487Lys, XP_047294902.1:p.Glu487Lys, XP_047294904.1:p.Glu487Lys, XP_047294906.1:p.Glu487Lys

                                      19.

                                      rs1477983424 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        19:50402460 (GRCh38)
                                        19:50905717 (GRCh37)
                                        Canonical SPDI:
                                        NC_000019.10:50402459:G:A,NC_000019.10:50402459:G:T
                                        Gene:
                                        POLD1 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,missense_variant,coding_sequence_variant
                                        Clinical significance:
                                        uncertain-significance
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0./0 (ALFA)
                                        T=0.000021/3 (GnomAD)
                                        HGVS:
                                        NC_000019.10:g.50402460G>A, NC_000019.10:g.50402460G>T, NC_000019.9:g.50905717G>A, NC_000019.9:g.50905717G>T, NG_033800.1:g.23138G>A, NG_033800.1:g.23138G>T, NM_002691.4:c.765G>A, NM_002691.4:c.765G>T, NM_002691.3:c.765G>A, NM_002691.3:c.765G>T, NR_046402.2:n.810G>A, NR_046402.2:n.810G>T, NR_046402.1:n.834G>A, NR_046402.1:n.834G>T, NM_001308632.1:c.765G>A, NM_001308632.1:c.765G>T, NM_001256849.1:c.765G>A, NM_001256849.1:c.765G>T, XM_005259008.5:c.765G>A, XM_005259008.5:c.765G>T, XM_005259008.4:c.765G>A, XM_005259008.4:c.765G>T, XM_005259008.3:c.765G>A, XM_005259008.3:c.765G>T, XM_005259008.2:c.765G>A, XM_005259008.2:c.765G>T, XM_005259008.1:c.765G>A, XM_005259008.1:c.765G>T, XM_017026882.3:c.765G>A, XM_017026882.3:c.765G>T, XM_017026882.2:c.765G>A, XM_017026882.2:c.765G>T, XM_017026882.1:c.765G>A, XM_017026882.1:c.765G>T, XR_935835.3:n.834G>A, XR_935835.3:n.834G>T, XR_935835.2:n.866G>A, XR_935835.2:n.866G>T, XR_935835.1:n.867G>A, XR_935835.1:n.867G>T, XM_011527038.2:c.765G>A, XM_011527038.2:c.765G>T, XM_011527038.1:c.765G>A, XM_011527038.1:c.765G>T, XM_047438947.1:c.765G>A, XM_047438947.1:c.765G>T, XM_047438949.1:c.765G>A, XM_047438949.1:c.765G>T, XM_047438946.1:c.765G>A, XM_047438946.1:c.765G>T, XM_047438948.1:c.765G>A, XM_047438948.1:c.765G>T, XM_047438950.1:c.765G>A, XM_047438950.1:c.765G>T, NP_002682.2:p.Met255Ile, NP_002682.2:p.Met255Ile, NP_001295561.1:p.Met255Ile, NP_001295561.1:p.Met255Ile, NP_001243778.1:p.Met255Ile, NP_001243778.1:p.Met255Ile, XP_005259065.1:p.Met255Ile, XP_005259065.1:p.Met255Ile, XP_016882371.1:p.Met255Ile, XP_016882371.1:p.Met255Ile, XP_011525340.1:p.Met255Ile, XP_011525340.1:p.Met255Ile, XP_047294903.1:p.Met255Ile, XP_047294903.1:p.Met255Ile, XP_047294905.1:p.Met255Ile, XP_047294905.1:p.Met255Ile, XP_047294902.1:p.Met255Ile, XP_047294902.1:p.Met255Ile, XP_047294904.1:p.Met255Ile, XP_047294904.1:p.Met255Ile, XP_047294906.1:p.Met255Ile, XP_047294906.1:p.Met255Ile

                                        20.

                                        rs1476299445 has merged into rs749601227 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          G>-,GG [Show Flanks]
                                          Chromosome:
                                          19:50403113 (GRCh38)
                                          19:50906370 (GRCh37)
                                          Canonical SPDI:
                                          NC_000019.10:50403112:GGGGGG:GGGGG,NC_000019.10:50403112:GGGGGG:GGGGGGG
                                          Gene:
                                          POLD1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by cluster
                                          MAF:
                                          -=0.00009/2 (ExAC)
                                          HGVS:
                                          NC_000019.10:g.50403118del, NC_000019.10:g.50403118dup, NC_000019.9:g.50906375del, NC_000019.9:g.50906375dup, NG_033800.1:g.23796del, NG_033800.1:g.23796dup, NM_002691.4:c.1036del, NM_002691.4:c.1036dup, NM_002691.3:c.1036del, NM_002691.3:c.1036dup, NR_046402.2:n.1081del, NR_046402.2:n.1081dup, NR_046402.1:n.1105del, NR_046402.1:n.1105dup, NM_001308632.1:c.1036del, NM_001308632.1:c.1036dup, NM_001256849.1:c.1036del, NM_001256849.1:c.1036dup, XM_005259008.5:c.1036del, XM_005259008.5:c.1036dup, XM_005259008.4:c.1036del, XM_005259008.4:c.1036dup, XM_005259008.3:c.1036del, XM_005259008.3:c.1036dup, XM_005259008.2:c.1036del, XM_005259008.2:c.1036dup, XM_005259008.1:c.1036del, XM_005259008.1:c.1036dup, XM_017026882.3:c.1036del, XM_017026882.3:c.1036dup, XM_017026882.2:c.1036del, XM_017026882.2:c.1036dup, XM_017026882.1:c.1036del, XM_017026882.1:c.1036dup, XR_935835.3:n.1105del, XR_935835.3:n.1105dup, XR_935835.2:n.1137del, XR_935835.2:n.1137dup, XR_935835.1:n.1138del, XR_935835.1:n.1138dup, XM_011527038.2:c.1036del, XM_011527038.2:c.1036dup, XM_011527038.1:c.1036del, XM_011527038.1:c.1036dup, XM_047438947.1:c.1036del, XM_047438947.1:c.1036dup, XM_047438949.1:c.1036del, XM_047438949.1:c.1036dup, XM_047438946.1:c.1036del, XM_047438946.1:c.1036dup, XM_047438948.1:c.1036del, XM_047438948.1:c.1036dup, XM_047438950.1:c.1036del, XM_047438950.1:c.1036dup, NP_002682.2:p.Glu346fs, NP_002682.2:p.Glu346fs, NP_001295561.1:p.Glu346fs, NP_001295561.1:p.Glu346fs, NP_001243778.1:p.Glu346fs, NP_001243778.1:p.Glu346fs, XP_005259065.1:p.Glu346fs, XP_005259065.1:p.Glu346fs, XP_016882371.1:p.Glu346fs, XP_016882371.1:p.Glu346fs, XP_011525340.1:p.Glu346fs, XP_011525340.1:p.Glu346fs, XP_047294903.1:p.Glu346fs, XP_047294903.1:p.Glu346fs, XP_047294905.1:p.Glu346fs, XP_047294905.1:p.Glu346fs, XP_047294902.1:p.Glu346fs, XP_047294902.1:p.Glu346fs, XP_047294904.1:p.Glu346fs, XP_047294904.1:p.Glu346fs, XP_047294906.1:p.Glu346fs, XP_047294906.1:p.Glu346fs

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