U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 442

1.

rs1490874744 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    4:184691557 (GRCh38)
    4:185612711 (GRCh37)
    Canonical SPDI:
    NC_000004.12:184691556:A:G
    Gene:
    PRIMPOL (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    G=0.000071/1 (ALFA)
    G=0.000004/1 (TOPMED)
    HGVS:
    NC_000004.12:g.184691557A>G, NC_000004.11:g.185612711A>G, NG_051582.1:g.46945A>G, NM_152683.4:c.1354A>G, NM_152683.3:c.1354A>G, NM_152683.2:c.1354A>G, NR_144312.2:n.1659A>G, NR_144312.1:n.1784A>G, NM_001345891.2:c.1393A>G, NM_001345891.1:c.1393A>G, NM_001345893.2:c.1390A>G, NM_001345893.1:c.1390A>G, NM_001345892.2:c.1390A>G, NM_001345892.1:c.1390A>G, NM_001345895.2:c.1354A>G, NM_001345895.1:c.1354A>G, NM_001300768.2:c.1351A>G, NM_001300768.1:c.1351A>G, NM_001345896.2:c.1351A>G, NM_001345896.1:c.1351A>G, NM_001345894.2:c.697A>G, NM_001345894.1:c.697A>G, NR_144313.2:n.1570A>G, NR_144313.1:n.1695A>G, NM_001345897.2:c.658A>G, NM_001345897.1:c.658A>G, NM_001345898.2:c.655A>G, NM_001345898.1:c.655A>G, NR_144314.2:n.1496A>G, NR_144314.1:n.1621A>G, NM_001300767.2:c.967A>G, NM_001300767.1:c.967A>G, NM_001345899.2:c.1102A>G, NM_001345899.1:c.1102A>G, NM_001345900.2:c.829A>G, NM_001345900.1:c.829A>G, NM_001345901.2:c.658A>G, NM_001345901.1:c.658A>G, XR_938701.4:n.1701A>G, XR_938701.3:n.1714A>G, XR_938701.2:n.1703A>G, XR_938701.1:n.1703A>G, XM_011531726.4:c.868A>G, XM_011531726.3:c.868A>G, XM_011531726.2:c.868A>G, XM_011531726.1:c.868A>G, XM_017007867.3:c.1393A>G, XM_017007867.2:c.1393A>G, XM_017007867.1:c.1393A>G, XM_011531720.2:c.1393A>G, XM_011531720.1:c.1393A>G, XM_011531723.2:c.1006A>G, XM_011531723.1:c.1006A>G, XM_017007872.2:c.697A>G, XM_017007872.1:c.697A>G, XM_047449751.1:c.868A>G, NP_689896.1:p.Lys452Glu, NP_001332820.1:p.Lys465Glu, NP_001332822.1:p.Lys464Glu, NP_001332821.1:p.Lys464Glu, NP_001332824.1:p.Lys452Glu, NP_001287697.1:p.Lys451Glu, NP_001332825.1:p.Lys451Glu, NP_001332823.1:p.Lys233Glu, NP_001332826.1:p.Lys220Glu, NP_001332827.1:p.Lys219Glu, NP_001287696.1:p.Lys323Glu, NP_001332828.1:p.Lys368Glu, NP_001332829.1:p.Lys277Glu, NP_001332830.1:p.Lys220Glu, XP_011530028.1:p.Lys290Glu, XP_016863356.1:p.Lys465Glu, XP_011530022.1:p.Lys465Glu, XP_011530025.1:p.Lys336Glu, XP_016863361.1:p.Lys233Glu, XP_047305707.1:p.Lys290Glu

    2.

    rs1490630394 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      4:184672274 (GRCh38)
      4:185593428 (GRCh37)
      Canonical SPDI:
      NC_000004.12:184672273:T:C
      Gene:
      PRIMPOL (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.000047/1 (ALFA)
      C=0.000012/3 (GnomAD_exomes)
      HGVS:
      NC_000004.12:g.184672274T>C, NC_000004.11:g.185593428T>C, NG_051582.1:g.27662T>C, NM_152683.4:c.658T>C, NM_152683.3:c.658T>C, NM_152683.2:c.658T>C, NR_144312.2:n.963T>C, NR_144312.1:n.1088T>C, NM_001345891.2:c.658T>C, NM_001345891.1:c.658T>C, NM_001345893.2:c.658T>C, NM_001345893.1:c.658T>C, NM_001345892.2:c.658T>C, NM_001345892.1:c.658T>C, NM_001345895.2:c.658T>C, NM_001345895.1:c.658T>C, NM_001300768.2:c.658T>C, NM_001300768.1:c.658T>C, NM_001345896.2:c.658T>C, NM_001345896.1:c.658T>C, NM_001345894.2:c.-39T>C, NM_001345894.1:c.-39T>C, NR_144313.2:n.963T>C, NR_144313.1:n.1088T>C, NM_001345897.2:c.-39T>C, NM_001345897.1:c.-39T>C, NM_001345898.2:c.-39T>C, NM_001345898.1:c.-39T>C, NR_144314.2:n.966T>C, NR_144314.1:n.1091T>C, NM_001300767.2:c.271T>C, NM_001300767.1:c.271T>C, NM_001345899.2:c.658T>C, NM_001345899.1:c.658T>C, NM_001345900.2:c.133T>C, NM_001345900.1:c.133T>C, NM_001345901.2:c.-39T>C, NM_001345901.1:c.-39T>C, XR_938701.4:n.966T>C, XR_938701.3:n.979T>C, XR_938701.2:n.968T>C, XR_938701.1:n.968T>C, XM_011531726.4:c.133T>C, XM_011531726.3:c.133T>C, XM_011531726.2:c.133T>C, XM_011531726.1:c.133T>C, XM_017007867.3:c.658T>C, XM_017007867.2:c.658T>C, XM_017007867.1:c.658T>C, XM_011531720.2:c.658T>C, XM_011531720.1:c.658T>C, XM_011531723.2:c.271T>C, XM_011531723.1:c.271T>C, XM_017007872.2:c.-39T>C, XM_017007872.1:c.-39T>C, XM_047449751.1:c.133T>C, XM_047449752.1:c.658T>C, XM_047449753.1:c.658T>C, NP_689896.1:p.Ser220Pro, NP_001332820.1:p.Ser220Pro, NP_001332822.1:p.Ser220Pro, NP_001332821.1:p.Ser220Pro, NP_001332824.1:p.Ser220Pro, NP_001287697.1:p.Ser220Pro, NP_001332825.1:p.Ser220Pro, NP_001287696.1:p.Ser91Pro, NP_001332828.1:p.Ser220Pro, NP_001332829.1:p.Ser45Pro, XP_011530028.1:p.Ser45Pro, XP_016863356.1:p.Ser220Pro, XP_011530022.1:p.Ser220Pro, XP_011530025.1:p.Ser91Pro, XP_047305707.1:p.Ser45Pro, XP_047305708.1:p.Ser220Pro, XP_047305709.1:p.Ser220Pro

      3.

      rs1490318393 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        4:184682280 (GRCh38)
        4:185603434 (GRCh37)
        Canonical SPDI:
        NC_000004.12:184682279:A:G
        Gene:
        PRIMPOL (Varview)
        Functional Consequence:
        intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000004.12:g.184682280A>G, NC_000004.11:g.185603434A>G, NG_051582.1:g.37668A>G, NM_152683.4:c.1040A>G, NM_152683.3:c.1040A>G, NM_152683.2:c.1040A>G, NR_144312.2:n.1345A>G, NR_144312.1:n.1470A>G, NM_001345891.2:c.1040A>G, NM_001345891.1:c.1040A>G, NM_001345893.2:c.1040A>G, NM_001345893.1:c.1040A>G, NM_001345892.2:c.1040A>G, NM_001345892.1:c.1040A>G, NM_001345895.2:c.1040A>G, NM_001345895.1:c.1040A>G, NM_001300768.2:c.1040A>G, NM_001300768.1:c.1040A>G, NM_001345896.2:c.1040A>G, NM_001345896.1:c.1040A>G, NM_001345894.2:c.344A>G, NM_001345894.1:c.344A>G, NM_001345897.2:c.344A>G, NM_001345897.1:c.344A>G, NM_001345898.2:c.344A>G, NM_001345898.1:c.344A>G, NR_144314.2:n.1185A>G, NR_144314.1:n.1310A>G, NM_001300767.2:c.653A>G, NM_001300767.1:c.653A>G, NM_001345900.2:c.515A>G, NM_001345900.1:c.515A>G, NM_001345901.2:c.344A>G, NM_001345901.1:c.344A>G, XR_938701.4:n.1348A>G, XR_938701.3:n.1361A>G, XR_938701.2:n.1350A>G, XR_938701.1:n.1350A>G, XM_011531726.4:c.515A>G, XM_011531726.3:c.515A>G, XM_011531726.2:c.515A>G, XM_011531726.1:c.515A>G, XM_017007867.3:c.1040A>G, XM_017007867.2:c.1040A>G, XM_017007867.1:c.1040A>G, XM_011531720.2:c.1040A>G, XM_011531720.1:c.1040A>G, XM_011531723.2:c.653A>G, XM_011531723.1:c.653A>G, XM_017007872.2:c.344A>G, XM_017007872.1:c.344A>G, XM_047449751.1:c.515A>G, XM_047449753.1:c.877A>G, NP_689896.1:p.Glu347Gly, NP_001332820.1:p.Glu347Gly, NP_001332822.1:p.Glu347Gly, NP_001332821.1:p.Glu347Gly, NP_001332824.1:p.Glu347Gly, NP_001287697.1:p.Glu347Gly, NP_001332825.1:p.Glu347Gly, NP_001332823.1:p.Glu115Gly, NP_001332826.1:p.Glu115Gly, NP_001332827.1:p.Glu115Gly, NP_001287696.1:p.Glu218Gly, NP_001332829.1:p.Glu172Gly, NP_001332830.1:p.Glu115Gly, XP_011530028.1:p.Glu172Gly, XP_016863356.1:p.Glu347Gly, XP_011530022.1:p.Glu347Gly, XP_011530025.1:p.Glu218Gly, XP_016863361.1:p.Glu115Gly, XP_047305707.1:p.Glu172Gly, XP_047305709.1:p.Ser293Gly

        4.

        rs1488687258 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          4:184694654 (GRCh38)
          4:185615808 (GRCh37)
          Canonical SPDI:
          NC_000004.12:184694653:G:C
          Gene:
          CENPU (Varview), PRIMPOL (Varview)
          Functional Consequence:
          missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000014/2 (GnomAD)
          HGVS:
          NC_000004.12:g.184694654G>C, NC_000004.11:g.185615808G>C, NG_051582.1:g.50042G>C, NM_152683.4:c.1558G>C, NM_152683.3:c.1558G>C, NM_152683.2:c.1558G>C, NR_144312.2:n.2024G>C, NR_144312.1:n.2149G>C, NM_001345891.2:c.1597G>C, NM_001345891.1:c.1597G>C, NM_001345893.2:c.1594G>C, NM_001345893.1:c.1594G>C, NM_001345892.2:c.1594G>C, NM_001345892.1:c.1594G>C, NM_001345895.2:c.1558G>C, NM_001345895.1:c.1558G>C, NM_001300768.2:c.1555G>C, NM_001300768.1:c.1555G>C, NM_001345896.2:c.1555G>C, NM_001345896.1:c.1555G>C, NM_001345894.2:c.901G>C, NM_001345894.1:c.901G>C, NR_144313.2:n.1774G>C, NR_144313.1:n.1899G>C, NM_001345897.2:c.862G>C, NM_001345897.1:c.862G>C, NM_001345898.2:c.859G>C, NM_001345898.1:c.859G>C, NR_144314.2:n.1700G>C, NR_144314.1:n.1825G>C, NM_001300767.2:c.1171G>C, NM_001300767.1:c.1171G>C, NM_001345899.2:c.1306G>C, NM_001345899.1:c.1306G>C, NM_001345900.2:c.1033G>C, NM_001345900.1:c.1033G>C, NM_001345901.2:c.862G>C, NM_001345901.1:c.862G>C, XM_005263218.5:c.*634C>G, XM_005263218.4:c.*634C>G, XM_005263218.3:c.*634C>G, XM_005263218.2:c.*634C>G, NM_024629.4:c.*634C>G, NM_024629.3:c.*634C>G, XR_938701.4:n.2066G>C, XR_938701.3:n.2079G>C, XR_938701.2:n.2068G>C, XR_938701.1:n.2068G>C, XM_011531726.4:c.1072G>C, XM_011531726.3:c.1072G>C, XM_011531726.2:c.1072G>C, XM_011531726.1:c.1072G>C, XM_017007867.3:c.*361G>C, XM_017007867.2:c.*361G>C, XM_017007867.1:c.*361G>C, NR_104593.2:n.1863C>G, NR_104593.1:n.1899C>G, XM_011531720.2:c.1597G>C, XM_011531720.1:c.1597G>C, XM_011531723.2:c.1210G>C, XM_011531723.1:c.1210G>C, XM_017007872.2:c.901G>C, XM_017007872.1:c.901G>C, XM_047416162.1:c.*634C>G, XM_047449751.1:c.1072G>C, NP_689896.1:p.Ala520Pro, NP_001332820.1:p.Ala533Pro, NP_001332822.1:p.Ala532Pro, NP_001332821.1:p.Ala532Pro, NP_001332824.1:p.Ala520Pro, NP_001287697.1:p.Ala519Pro, NP_001332825.1:p.Ala519Pro, NP_001332823.1:p.Ala301Pro, NP_001332826.1:p.Ala288Pro, NP_001332827.1:p.Ala287Pro, NP_001287696.1:p.Ala391Pro, NP_001332828.1:p.Ala436Pro, NP_001332829.1:p.Ala345Pro, NP_001332830.1:p.Ala288Pro, XP_011530028.1:p.Ala358Pro, XP_011530022.1:p.Ala533Pro, XP_011530025.1:p.Ala404Pro, XP_016863361.1:p.Ala301Pro, XP_047305707.1:p.Ala358Pro

          5.

          rs1488559078 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            4:184694527 (GRCh38)
            4:185615681 (GRCh37)
            Canonical SPDI:
            NC_000004.12:184694526:A:C
            Gene:
            CENPU (Varview), PRIMPOL (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000004.12:g.184694527A>C, NC_000004.11:g.185615681A>C, NG_051582.1:g.49915A>C, NM_152683.4:c.1431A>C, NM_152683.3:c.1431A>C, NM_152683.2:c.1431A>C, NR_144312.2:n.1897A>C, NR_144312.1:n.2022A>C, NM_001345891.2:c.1470A>C, NM_001345891.1:c.1470A>C, NM_001345893.2:c.1467A>C, NM_001345893.1:c.1467A>C, NM_001345892.2:c.1467A>C, NM_001345892.1:c.1467A>C, NM_001345895.2:c.1431A>C, NM_001345895.1:c.1431A>C, NM_001300768.2:c.1428A>C, NM_001300768.1:c.1428A>C, NM_001345896.2:c.1428A>C, NM_001345896.1:c.1428A>C, NM_001345894.2:c.774A>C, NM_001345894.1:c.774A>C, NR_144313.2:n.1647A>C, NR_144313.1:n.1772A>C, NM_001345897.2:c.735A>C, NM_001345897.1:c.735A>C, NM_001345898.2:c.732A>C, NM_001345898.1:c.732A>C, NR_144314.2:n.1573A>C, NR_144314.1:n.1698A>C, NM_001300767.2:c.1044A>C, NM_001300767.1:c.1044A>C, NM_001345899.2:c.1179A>C, NM_001345899.1:c.1179A>C, NM_001345900.2:c.906A>C, NM_001345900.1:c.906A>C, NM_001345901.2:c.735A>C, NM_001345901.1:c.735A>C, XM_005263218.5:c.*761T>G, XM_005263218.4:c.*761T>G, XM_005263218.3:c.*761T>G, XM_005263218.2:c.*761T>G, NM_024629.4:c.*761T>G, NM_024629.3:c.*761T>G, XR_938701.4:n.1939A>C, XR_938701.3:n.1952A>C, XR_938701.2:n.1941A>C, XR_938701.1:n.1941A>C, XM_011531726.4:c.945A>C, XM_011531726.3:c.945A>C, XM_011531726.2:c.945A>C, XM_011531726.1:c.945A>C, XM_017007867.3:c.*234A>C, XM_017007867.2:c.*234A>C, XM_017007867.1:c.*234A>C, NR_104593.2:n.1990T>G, NR_104593.1:n.2026T>G, XM_011531720.2:c.1470A>C, XM_011531720.1:c.1470A>C, XM_011531723.2:c.1083A>C, XM_011531723.1:c.1083A>C, XM_017007872.2:c.774A>C, XM_017007872.1:c.774A>C, XM_047416162.1:c.*761T>G, XM_047449751.1:c.945A>C, NP_689896.1:p.Glu477Asp, NP_001332820.1:p.Glu490Asp, NP_001332822.1:p.Glu489Asp, NP_001332821.1:p.Glu489Asp, NP_001332824.1:p.Glu477Asp, NP_001287697.1:p.Glu476Asp, NP_001332825.1:p.Glu476Asp, NP_001332823.1:p.Glu258Asp, NP_001332826.1:p.Glu245Asp, NP_001332827.1:p.Glu244Asp, NP_001287696.1:p.Glu348Asp, NP_001332828.1:p.Glu393Asp, NP_001332829.1:p.Glu302Asp, NP_001332830.1:p.Glu245Asp, XP_011530028.1:p.Glu315Asp, XP_011530022.1:p.Glu490Asp, XP_011530025.1:p.Glu361Asp, XP_016863361.1:p.Glu258Asp, XP_047305707.1:p.Glu315Asp

            6.

            rs1487182464 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              4:184665930 (GRCh38)
              4:185587084 (GRCh37)
              Canonical SPDI:
              NC_000004.12:184665929:C:T
              Gene:
              PRIMPOL (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant,intron_variant,5_prime_UTR_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              HGVS:
              NC_000004.12:g.184665930C>T, NC_000004.11:g.185587084C>T, NG_051582.1:g.21318C>T, NM_152683.4:c.422C>T, NM_152683.3:c.422C>T, NM_152683.2:c.422C>T, NR_144312.2:n.727C>T, NR_144312.1:n.852C>T, NM_001345891.2:c.422C>T, NM_001345891.1:c.422C>T, NM_001345893.2:c.422C>T, NM_001345893.1:c.422C>T, NM_001345892.2:c.422C>T, NM_001345892.1:c.422C>T, NM_001345895.2:c.422C>T, NM_001345895.1:c.422C>T, NM_001300768.2:c.422C>T, NM_001300768.1:c.422C>T, NM_001345896.2:c.422C>T, NM_001345896.1:c.422C>T, NM_001345894.2:c.-275C>T, NM_001345894.1:c.-275C>T, NR_144313.2:n.727C>T, NR_144313.1:n.852C>T, NM_001345897.2:c.-275C>T, NM_001345897.1:c.-275C>T, NM_001345898.2:c.-275C>T, NM_001345898.1:c.-275C>T, NR_144314.2:n.730C>T, NR_144314.1:n.855C>T, NM_001300767.2:c.35C>T, NM_001300767.1:c.35C>T, NM_001345899.2:c.422C>T, NM_001345899.1:c.422C>T, NM_001345901.2:c.-275C>T, NM_001345901.1:c.-275C>T, XR_938701.4:n.730C>T, XR_938701.3:n.743C>T, XR_938701.2:n.732C>T, XR_938701.1:n.732C>T, XM_017007867.3:c.422C>T, XM_017007867.2:c.422C>T, XM_017007867.1:c.422C>T, XM_011531720.2:c.422C>T, XM_011531720.1:c.422C>T, XM_011531723.2:c.35C>T, XM_011531723.1:c.35C>T, XM_017007872.2:c.-275C>T, XM_017007872.1:c.-275C>T, XM_047449752.1:c.422C>T, XM_047449753.1:c.422C>T, NP_689896.1:p.Ala141Val, NP_001332820.1:p.Ala141Val, NP_001332822.1:p.Ala141Val, NP_001332821.1:p.Ala141Val, NP_001332824.1:p.Ala141Val, NP_001287697.1:p.Ala141Val, NP_001332825.1:p.Ala141Val, NP_001287696.1:p.Ala12Val, NP_001332828.1:p.Ala141Val, XP_016863356.1:p.Ala141Val, XP_011530022.1:p.Ala141Val, XP_011530025.1:p.Ala12Val, XP_047305708.1:p.Ala141Val, XP_047305709.1:p.Ala141Val

              7.

              rs1486465159 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                4:184672314 (GRCh38)
                4:185593468 (GRCh37)
                Canonical SPDI:
                NC_000004.12:184672313:T:C
                Gene:
                PRIMPOL (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant,non_coding_transcript_variant,initiator_codon_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000014/2 (GnomAD)
                HGVS:
                NC_000004.12:g.184672314T>C, NC_000004.11:g.185593468T>C, NG_051582.1:g.27702T>C, NM_152683.4:c.698T>C, NM_152683.3:c.698T>C, NM_152683.2:c.698T>C, NR_144312.2:n.1003T>C, NR_144312.1:n.1128T>C, NM_001345891.2:c.698T>C, NM_001345891.1:c.698T>C, NM_001345893.2:c.698T>C, NM_001345893.1:c.698T>C, NM_001345892.2:c.698T>C, NM_001345892.1:c.698T>C, NM_001345895.2:c.698T>C, NM_001345895.1:c.698T>C, NM_001300768.2:c.698T>C, NM_001300768.1:c.698T>C, NM_001345896.2:c.698T>C, NM_001345896.1:c.698T>C, NM_001345894.2:c.2T>C, NM_001345894.1:c.2T>C, NR_144313.2:n.1003T>C, NR_144313.1:n.1128T>C, NM_001345897.2:c.2T>C, NM_001345897.1:c.2T>C, NM_001345898.2:c.2T>C, NM_001345898.1:c.2T>C, NR_144314.2:n.1006T>C, NR_144314.1:n.1131T>C, NM_001300767.2:c.311T>C, NM_001300767.1:c.311T>C, NM_001345899.2:c.698T>C, NM_001345899.1:c.698T>C, NM_001345900.2:c.173T>C, NM_001345900.1:c.173T>C, NM_001345901.2:c.2T>C, NM_001345901.1:c.2T>C, XR_938701.4:n.1006T>C, XR_938701.3:n.1019T>C, XR_938701.2:n.1008T>C, XR_938701.1:n.1008T>C, XM_011531726.4:c.173T>C, XM_011531726.3:c.173T>C, XM_011531726.2:c.173T>C, XM_011531726.1:c.173T>C, XM_017007867.3:c.698T>C, XM_017007867.2:c.698T>C, XM_017007867.1:c.698T>C, XM_011531720.2:c.698T>C, XM_011531720.1:c.698T>C, XM_011531723.2:c.311T>C, XM_011531723.1:c.311T>C, XM_017007872.2:c.2T>C, XM_017007872.1:c.2T>C, XM_047449751.1:c.173T>C, XM_047449752.1:c.698T>C, XM_047449753.1:c.698T>C, NP_689896.1:p.Met233Thr, NP_001332820.1:p.Met233Thr, NP_001332822.1:p.Met233Thr, NP_001332821.1:p.Met233Thr, NP_001332824.1:p.Met233Thr, NP_001287697.1:p.Met233Thr, NP_001332825.1:p.Met233Thr, NP_001332823.1:p.Met1Thr, NP_001332826.1:p.Met1Thr, NP_001332827.1:p.Met1Thr, NP_001287696.1:p.Met104Thr, NP_001332828.1:p.Met233Thr, NP_001332829.1:p.Met58Thr, NP_001332830.1:p.Met1Thr, XP_011530028.1:p.Met58Thr, XP_016863356.1:p.Met233Thr, XP_011530022.1:p.Met233Thr, XP_011530025.1:p.Met104Thr, XP_016863361.1:p.Met1Thr, XP_047305707.1:p.Met58Thr, XP_047305708.1:p.Met233Thr, XP_047305709.1:p.Met233Thr

                8.

                rs1483322178 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  4:184685666 (GRCh38)
                  4:185606820 (GRCh37)
                  Canonical SPDI:
                  NC_000004.12:184685665:A:G
                  Gene:
                  PRIMPOL (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000004.12:g.184685666A>G, NC_000004.11:g.185606820A>G, NG_051582.1:g.41054A>G, NM_152683.4:c.1277A>G, NM_152683.3:c.1277A>G, NM_152683.2:c.1277A>G, NR_144312.2:n.1582A>G, NR_144312.1:n.1707A>G, NM_001345891.2:c.1277A>G, NM_001345891.1:c.1277A>G, NM_001345893.2:c.1274A>G, NM_001345893.1:c.1274A>G, NM_001345892.2:c.1274A>G, NM_001345892.1:c.1274A>G, NM_001345895.2:c.1277A>G, NM_001345895.1:c.1277A>G, NM_001300768.2:c.1274A>G, NM_001300768.1:c.1274A>G, NM_001345896.2:c.1274A>G, NM_001345896.1:c.1274A>G, NM_001345894.2:c.581A>G, NM_001345894.1:c.581A>G, NR_144313.2:n.1493A>G, NR_144313.1:n.1618A>G, NM_001345897.2:c.581A>G, NM_001345897.1:c.581A>G, NM_001345898.2:c.578A>G, NM_001345898.1:c.578A>G, NR_144314.2:n.1419A>G, NR_144314.1:n.1544A>G, NM_001300767.2:c.890A>G, NM_001300767.1:c.890A>G, NM_001345899.2:c.1025A>G, NM_001345899.1:c.1025A>G, NM_001345900.2:c.752A>G, NM_001345900.1:c.752A>G, NM_001345901.2:c.581A>G, NM_001345901.1:c.581A>G, XR_938701.4:n.1585A>G, XR_938701.3:n.1598A>G, XR_938701.2:n.1587A>G, XR_938701.1:n.1587A>G, XM_011531726.4:c.752A>G, XM_011531726.3:c.752A>G, XM_011531726.2:c.752A>G, XM_011531726.1:c.752A>G, XM_017007867.3:c.1277A>G, XM_017007867.2:c.1277A>G, XM_017007867.1:c.1277A>G, XM_011531720.2:c.1277A>G, XM_011531720.1:c.1277A>G, XM_011531723.2:c.890A>G, XM_011531723.1:c.890A>G, XM_017007872.2:c.581A>G, XM_017007872.1:c.581A>G, XM_047449751.1:c.752A>G, NP_689896.1:p.His426Arg, NP_001332820.1:p.His426Arg, NP_001332822.1:p.His425Arg, NP_001332821.1:p.His425Arg, NP_001332824.1:p.His426Arg, NP_001287697.1:p.His425Arg, NP_001332825.1:p.His425Arg, NP_001332823.1:p.His194Arg, NP_001332826.1:p.His194Arg, NP_001332827.1:p.His193Arg, NP_001287696.1:p.His297Arg, NP_001332828.1:p.His342Arg, NP_001332829.1:p.His251Arg, NP_001332830.1:p.His194Arg, XP_011530028.1:p.His251Arg, XP_016863356.1:p.His426Arg, XP_011530022.1:p.His426Arg, XP_011530025.1:p.His297Arg, XP_016863361.1:p.His194Arg, XP_047305707.1:p.His251Arg

                  9.

                  rs1482345099 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    4:184691692 (GRCh38)
                    4:185612846 (GRCh37)
                    Canonical SPDI:
                    NC_000004.12:184691691:C:T
                    Gene:
                    PRIMPOL (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                    Validated:
                    by frequency
                    MAF:
                    T=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000004.12:g.184691692C>T, NC_000004.11:g.185612846C>T, NG_051582.1:g.47080C>T, NM_152683.4:c.1405C>T, NM_152683.3:c.1405C>T, NM_152683.2:c.1405C>T, NR_144312.2:n.1710C>T, NR_144312.1:n.1835C>T, NM_001345891.2:c.1444C>T, NM_001345891.1:c.1444C>T, NM_001345893.2:c.1441C>T, NM_001345893.1:c.1441C>T, NM_001345892.2:c.1441C>T, NM_001345892.1:c.1441C>T, NM_001345895.2:c.1405C>T, NM_001345895.1:c.1405C>T, NM_001300768.2:c.1402C>T, NM_001300768.1:c.1402C>T, NM_001345896.2:c.1402C>T, NM_001345896.1:c.1402C>T, NM_001345894.2:c.748C>T, NM_001345894.1:c.748C>T, NR_144313.2:n.1621C>T, NR_144313.1:n.1746C>T, NM_001345897.2:c.709C>T, NM_001345897.1:c.709C>T, NM_001345898.2:c.706C>T, NM_001345898.1:c.706C>T, NR_144314.2:n.1547C>T, NR_144314.1:n.1672C>T, NM_001300767.2:c.1018C>T, NM_001300767.1:c.1018C>T, NM_001345899.2:c.1153C>T, NM_001345899.1:c.1153C>T, NM_001345900.2:c.880C>T, NM_001345900.1:c.880C>T, NM_001345901.2:c.709C>T, NM_001345901.1:c.709C>T, XR_938701.4:n.1752C>T, XR_938701.3:n.1765C>T, XR_938701.2:n.1754C>T, XR_938701.1:n.1754C>T, XM_011531726.4:c.919C>T, XM_011531726.3:c.919C>T, XM_011531726.2:c.919C>T, XM_011531726.1:c.919C>T, XM_017007867.3:c.1444C>T, XM_017007867.2:c.1444C>T, XM_017007867.1:c.1444C>T, XM_011531720.2:c.1444C>T, XM_011531720.1:c.1444C>T, XM_011531723.2:c.1057C>T, XM_011531723.1:c.1057C>T, XM_017007872.2:c.748C>T, XM_017007872.1:c.748C>T, XM_047449751.1:c.919C>T, NP_689896.1:p.Leu469Phe, NP_001332820.1:p.Leu482Phe, NP_001332822.1:p.Leu481Phe, NP_001332821.1:p.Leu481Phe, NP_001332824.1:p.Leu469Phe, NP_001287697.1:p.Leu468Phe, NP_001332825.1:p.Leu468Phe, NP_001332823.1:p.Leu250Phe, NP_001332826.1:p.Leu237Phe, NP_001332827.1:p.Leu236Phe, NP_001287696.1:p.Leu340Phe, NP_001332828.1:p.Leu385Phe, NP_001332829.1:p.Leu294Phe, NP_001332830.1:p.Leu237Phe, XP_011530028.1:p.Leu307Phe, XP_016863356.1:p.Leu482Phe, XP_011530022.1:p.Leu482Phe, XP_011530025.1:p.Leu353Phe, XP_016863361.1:p.Leu250Phe, XP_047305707.1:p.Leu307Phe

                    10.

                    rs1481028006 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      4:184672212 (GRCh38)
                      4:185593366 (GRCh37)
                      Canonical SPDI:
                      NC_000004.12:184672211:T:C
                      Gene:
                      PRIMPOL (Varview)
                      Functional Consequence:
                      missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (GnomAD_exomes)
                      C=0.000004/1 (TOPMED)
                      C=0.000014/2 (GnomAD)
                      HGVS:
                      NC_000004.12:g.184672212T>C, NC_000004.11:g.185593366T>C, NG_051582.1:g.27600T>C, NM_152683.4:c.596T>C, NM_152683.3:c.596T>C, NM_152683.2:c.596T>C, NR_144312.2:n.901T>C, NR_144312.1:n.1026T>C, NM_001345891.2:c.596T>C, NM_001345891.1:c.596T>C, NM_001345893.2:c.596T>C, NM_001345893.1:c.596T>C, NM_001345892.2:c.596T>C, NM_001345892.1:c.596T>C, NM_001345895.2:c.596T>C, NM_001345895.1:c.596T>C, NM_001300768.2:c.596T>C, NM_001300768.1:c.596T>C, NM_001345896.2:c.596T>C, NM_001345896.1:c.596T>C, NM_001345894.2:c.-101T>C, NM_001345894.1:c.-101T>C, NR_144313.2:n.901T>C, NR_144313.1:n.1026T>C, NM_001345897.2:c.-101T>C, NM_001345897.1:c.-101T>C, NM_001345898.2:c.-101T>C, NM_001345898.1:c.-101T>C, NR_144314.2:n.904T>C, NR_144314.1:n.1029T>C, NM_001300767.2:c.209T>C, NM_001300767.1:c.209T>C, NM_001345899.2:c.596T>C, NM_001345899.1:c.596T>C, NM_001345900.2:c.71T>C, NM_001345900.1:c.71T>C, NM_001345901.2:c.-101T>C, NM_001345901.1:c.-101T>C, XR_938701.4:n.904T>C, XR_938701.3:n.917T>C, XR_938701.2:n.906T>C, XR_938701.1:n.906T>C, XM_011531726.4:c.71T>C, XM_011531726.3:c.71T>C, XM_011531726.2:c.71T>C, XM_011531726.1:c.71T>C, XM_017007867.3:c.596T>C, XM_017007867.2:c.596T>C, XM_017007867.1:c.596T>C, XM_011531720.2:c.596T>C, XM_011531720.1:c.596T>C, XM_011531723.2:c.209T>C, XM_011531723.1:c.209T>C, XM_017007872.2:c.-101T>C, XM_017007872.1:c.-101T>C, XM_047449751.1:c.71T>C, XM_047449752.1:c.596T>C, XM_047449753.1:c.596T>C, NP_689896.1:p.Leu199Ser, NP_001332820.1:p.Leu199Ser, NP_001332822.1:p.Leu199Ser, NP_001332821.1:p.Leu199Ser, NP_001332824.1:p.Leu199Ser, NP_001287697.1:p.Leu199Ser, NP_001332825.1:p.Leu199Ser, NP_001287696.1:p.Leu70Ser, NP_001332828.1:p.Leu199Ser, NP_001332829.1:p.Leu24Ser, XP_011530028.1:p.Leu24Ser, XP_016863356.1:p.Leu199Ser, XP_011530022.1:p.Leu199Ser, XP_011530025.1:p.Leu70Ser, XP_047305707.1:p.Leu24Ser, XP_047305708.1:p.Leu199Ser, XP_047305709.1:p.Leu199Ser

                      11.

                      rs1480269638 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        G>- [Show Flanks]
                        Chromosome:
                        4:184694734 (GRCh38)
                        4:185615888 (GRCh37)
                        Canonical SPDI:
                        NC_000004.12:184694733:GG:G
                        Gene:
                        CENPU (Varview), PRIMPOL (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        GG=0./0 (ALFA)
                        -=0.000004/1 (TOPMED)
                        -=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000004.12:g.184694735del, NC_000004.11:g.185615889del, NG_051582.1:g.50123del, NM_152683.4:c.1639del, NM_152683.3:c.1639del, NM_152683.2:c.1639del, NR_144312.2:n.2105del, NR_144312.1:n.2230del, NM_001345891.2:c.1678del, NM_001345891.1:c.1678del, NM_001345893.2:c.1675del, NM_001345893.1:c.1675del, NM_001345892.2:c.1675del, NM_001345892.1:c.1675del, NM_001345895.2:c.1639del, NM_001345895.1:c.1639del, NM_001300768.2:c.1636del, NM_001300768.1:c.1636del, NM_001345896.2:c.1636del, NM_001345896.1:c.1636del, NM_001345894.2:c.982del, NM_001345894.1:c.982del, NR_144313.2:n.1855del, NR_144313.1:n.1980del, NM_001345897.2:c.943del, NM_001345897.1:c.943del, NM_001345898.2:c.940del, NM_001345898.1:c.940del, NR_144314.2:n.1781del, NR_144314.1:n.1906del, NM_001300767.2:c.1252del, NM_001300767.1:c.1252del, NM_001345899.2:c.1387del, NM_001345899.1:c.1387del, NM_001345900.2:c.1114del, NM_001345900.1:c.1114del, NM_001345901.2:c.943del, NM_001345901.1:c.943del, XM_005263218.5:c.*554del, XM_005263218.4:c.*554del, XM_005263218.3:c.*554del, XM_005263218.2:c.*554del, NM_024629.4:c.*554del, NM_024629.3:c.*554del, XR_938701.4:n.2147del, XR_938701.3:n.2160del, XR_938701.2:n.2149del, XR_938701.1:n.2149del, XM_011531726.4:c.1153del, XM_011531726.3:c.1153del, XM_011531726.2:c.1153del, XM_011531726.1:c.1153del, XM_017007867.3:c.*442del, XM_017007867.2:c.*442del, XM_017007867.1:c.*442del, NR_104593.2:n.1783del, NR_104593.1:n.1819del, XM_011531720.2:c.1678del, XM_011531720.1:c.1678del, XM_011531723.2:c.1291del, XM_011531723.1:c.1291del, XM_017007872.2:c.982del, XM_017007872.1:c.982del, XM_047416162.1:c.*554del, XM_047449751.1:c.1153del, NP_689896.1:p.Asp547fs, NP_001332820.1:p.Asp560fs, NP_001332822.1:p.Asp559fs, NP_001332821.1:p.Asp559fs, NP_001332824.1:p.Asp547fs, NP_001287697.1:p.Asp546fs, NP_001332825.1:p.Asp546fs, NP_001332823.1:p.Asp328fs, NP_001332826.1:p.Asp315fs, NP_001332827.1:p.Asp314fs, NP_001287696.1:p.Asp418fs, NP_001332828.1:p.Asp463fs, NP_001332829.1:p.Asp372fs, NP_001332830.1:p.Asp315fs, XP_011530028.1:p.Asp385fs, XP_011530022.1:p.Asp560fs, XP_011530025.1:p.Asp431fs, XP_016863361.1:p.Asp328fs, XP_047305707.1:p.Asp385fs

                        12.

                        rs1478913107 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          4:184661897 (GRCh38)
                          4:185583051 (GRCh37)
                          Canonical SPDI:
                          NC_000004.12:184661896:C:T
                          Gene:
                          PRIMPOL (Varview)
                          Functional Consequence:
                          intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          T=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000004.12:g.184661897C>T, NC_000004.11:g.185583051C>T, NG_051582.1:g.17285C>T, NM_152683.4:c.402C>T, NM_152683.3:c.402C>T, NM_152683.2:c.402C>T, NR_144312.2:n.707C>T, NR_144312.1:n.832C>T, NM_001345891.2:c.402C>T, NM_001345891.1:c.402C>T, NM_001345893.2:c.402C>T, NM_001345893.1:c.402C>T, NM_001345892.2:c.402C>T, NM_001345892.1:c.402C>T, NM_001345895.2:c.402C>T, NM_001345895.1:c.402C>T, NM_001300768.2:c.402C>T, NM_001300768.1:c.402C>T, NM_001345896.2:c.402C>T, NM_001345896.1:c.402C>T, NR_144313.2:n.707C>T, NR_144313.1:n.832C>T, NR_144314.2:n.710C>T, NR_144314.1:n.835C>T, NM_001300767.2:c.15C>T, NM_001300767.1:c.15C>T, NM_001345899.2:c.402C>T, NM_001345899.1:c.402C>T, XR_938701.4:n.710C>T, XR_938701.3:n.723C>T, XR_938701.2:n.712C>T, XR_938701.1:n.712C>T, XM_017007867.3:c.402C>T, XM_017007867.2:c.402C>T, XM_017007867.1:c.402C>T, XM_011531720.2:c.402C>T, XM_011531720.1:c.402C>T, XM_011531723.2:c.15C>T, XM_011531723.1:c.15C>T, XM_047449752.1:c.402C>T, XM_047449753.1:c.402C>T

                          13.

                          rs1477630557 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GAAAGCGTG>- [Show Flanks]
                            Chromosome:
                            4:184678283 (GRCh38)
                            4:185599437 (GRCh37)
                            Canonical SPDI:
                            NC_000004.12:184678280:TGGAAAGCGTG:TG
                            Gene:
                            PRIMPOL (Varview)
                            Functional Consequence:
                            intron_variant,inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TG=0./0 (ALFA)
                            -=0.000008/2 (TOPMED)
                            -=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000004.12:g.184678283_184678291del, NC_000004.11:g.185599437_185599445del, NG_051582.1:g.33671_33679del, NM_152683.4:c.896_904del, NM_152683.3:c.896_904del, NM_152683.2:c.896_904del, NR_144312.2:n.1201_1209del, NR_144312.1:n.1326_1334del, NM_001345891.2:c.896_904del, NM_001345891.1:c.896_904del, NM_001345893.2:c.896_904del, NM_001345893.1:c.896_904del, NM_001345892.2:c.896_904del, NM_001345892.1:c.896_904del, NM_001345895.2:c.896_904del, NM_001345895.1:c.896_904del, NM_001300768.2:c.896_904del, NM_001300768.1:c.896_904del, NM_001345896.2:c.896_904del, NM_001345896.1:c.896_904del, NM_001345894.2:c.200_208del, NM_001345894.1:c.200_208del, NR_144313.2:n.1201_1209del, NR_144313.1:n.1326_1334del, NM_001345897.2:c.200_208del, NM_001345897.1:c.200_208del, NM_001345898.2:c.200_208del, NM_001345898.1:c.200_208del, NM_001300767.2:c.509_517del, NM_001300767.1:c.509_517del, NM_001345900.2:c.371_379del, NM_001345900.1:c.371_379del, NM_001345901.2:c.200_208del, NM_001345901.1:c.200_208del, XR_938701.4:n.1204_1212del, XR_938701.3:n.1217_1225del, XR_938701.2:n.1206_1214del, XR_938701.1:n.1206_1214del, XM_011531726.4:c.371_379del, XM_011531726.3:c.371_379del, XM_011531726.2:c.371_379del, XM_011531726.1:c.371_379del, XM_017007867.3:c.896_904del, XM_017007867.2:c.896_904del, XM_017007867.1:c.896_904del, XM_011531720.2:c.896_904del, XM_011531720.1:c.896_904del, XM_011531723.2:c.509_517del, XM_011531723.1:c.509_517del, XM_017007872.2:c.200_208del, XM_017007872.1:c.200_208del, XM_047449751.1:c.371_379del, XM_047449752.1:c.896_904del, NP_689896.1:p.Gly299_Arg301del, NP_001332820.1:p.Gly299_Arg301del, NP_001332822.1:p.Gly299_Arg301del, NP_001332821.1:p.Gly299_Arg301del, NP_001332824.1:p.Gly299_Arg301del, NP_001287697.1:p.Gly299_Arg301del, NP_001332825.1:p.Gly299_Arg301del, NP_001332823.1:p.Gly67_Arg69del, NP_001332826.1:p.Gly67_Arg69del, NP_001332827.1:p.Gly67_Arg69del, NP_001287696.1:p.Gly170_Arg172del, NP_001332829.1:p.Gly124_Arg126del, NP_001332830.1:p.Gly67_Arg69del, XP_011530028.1:p.Gly124_Arg126del, XP_016863356.1:p.Gly299_Arg301del, XP_011530022.1:p.Gly299_Arg301del, XP_011530025.1:p.Gly170_Arg172del, XP_016863361.1:p.Gly67_Arg69del, XP_047305707.1:p.Gly124_Arg126del, XP_047305708.1:p.Gly299_Arg301del

                            14.

                            rs1472885512 [Homo sapiens]
                              Variant type:
                              DEL
                              Alleles:
                              TT>- [Show Flanks]
                              Chromosome:
                              4:184682268 (GRCh38)
                              4:185603422 (GRCh37)
                              Canonical SPDI:
                              NC_000004.12:184682267:TT:
                              Gene:
                              PRIMPOL (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              -=0./0 (ALFA)
                              -=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000004.12:g.184682268_184682269del, NC_000004.11:g.185603422_185603423del, NG_051582.1:g.37656_37657del, NM_152683.4:c.1028_1029del, NM_152683.3:c.1028_1029del, NM_152683.2:c.1028_1029del, NR_144312.2:n.1333_1334del, NR_144312.1:n.1458_1459del, NM_001345891.2:c.1028_1029del, NM_001345891.1:c.1028_1029del, NM_001345893.2:c.1028_1029del, NM_001345893.1:c.1028_1029del, NM_001345892.2:c.1028_1029del, NM_001345892.1:c.1028_1029del, NM_001345895.2:c.1028_1029del, NM_001345895.1:c.1028_1029del, NM_001300768.2:c.1028_1029del, NM_001300768.1:c.1028_1029del, NM_001345896.2:c.1028_1029del, NM_001345896.1:c.1028_1029del, NM_001345894.2:c.332_333del, NM_001345894.1:c.332_333del, NM_001345897.2:c.332_333del, NM_001345897.1:c.332_333del, NM_001345898.2:c.332_333del, NM_001345898.1:c.332_333del, NR_144314.2:n.1173_1174del, NR_144314.1:n.1298_1299del, NM_001300767.2:c.641_642del, NM_001300767.1:c.641_642del, NM_001345900.2:c.503_504del, NM_001345900.1:c.503_504del, NM_001345901.2:c.332_333del, NM_001345901.1:c.332_333del, XR_938701.4:n.1336_1337del, XR_938701.3:n.1349_1350del, XR_938701.2:n.1338_1339del, XR_938701.1:n.1338_1339del, XM_011531726.4:c.503_504del, XM_011531726.3:c.503_504del, XM_011531726.2:c.503_504del, XM_011531726.1:c.503_504del, XM_017007867.3:c.1028_1029del, XM_017007867.2:c.1028_1029del, XM_017007867.1:c.1028_1029del, XM_011531720.2:c.1028_1029del, XM_011531720.1:c.1028_1029del, XM_011531723.2:c.641_642del, XM_011531723.1:c.641_642del, XM_017007872.2:c.332_333del, XM_017007872.1:c.332_333del, XM_047449751.1:c.503_504del, XM_047449753.1:c.865_866del, NP_689896.1:p.Ile343fs, NP_001332820.1:p.Ile343fs, NP_001332822.1:p.Ile343fs, NP_001332821.1:p.Ile343fs, NP_001332824.1:p.Ile343fs, NP_001287697.1:p.Ile343fs, NP_001332825.1:p.Ile343fs, NP_001332823.1:p.Ile111fs, NP_001332826.1:p.Ile111fs, NP_001332827.1:p.Ile111fs, NP_001287696.1:p.Ile214fs, NP_001332829.1:p.Ile168fs, NP_001332830.1:p.Ile111fs, XP_011530028.1:p.Ile168fs, XP_016863356.1:p.Ile343fs, XP_011530022.1:p.Ile343fs, XP_011530025.1:p.Ile214fs, XP_016863361.1:p.Ile111fs, XP_047305707.1:p.Ile168fs, XP_047305709.1:p.Phe289fs

                              15.

                              rs1471810258 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>T [Show Flanks]
                                Chromosome:
                                4:184685643 (GRCh38)
                                4:185606797 (GRCh37)
                                Canonical SPDI:
                                NC_000004.12:184685642:G:T
                                Gene:
                                PRIMPOL (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000004.12:g.184685643G>T, NC_000004.11:g.185606797G>T, NG_051582.1:g.41031G>T, NM_152683.4:c.1254G>T, NM_152683.3:c.1254G>T, NM_152683.2:c.1254G>T, NR_144312.2:n.1559G>T, NR_144312.1:n.1684G>T, NM_001345891.2:c.1254G>T, NM_001345891.1:c.1254G>T, NM_001345893.2:c.1251G>T, NM_001345893.1:c.1251G>T, NM_001345892.2:c.1251G>T, NM_001345892.1:c.1251G>T, NM_001345895.2:c.1254G>T, NM_001345895.1:c.1254G>T, NM_001300768.2:c.1251G>T, NM_001300768.1:c.1251G>T, NM_001345896.2:c.1251G>T, NM_001345896.1:c.1251G>T, NM_001345894.2:c.558G>T, NM_001345894.1:c.558G>T, NR_144313.2:n.1470G>T, NR_144313.1:n.1595G>T, NM_001345897.2:c.558G>T, NM_001345897.1:c.558G>T, NM_001345898.2:c.555G>T, NM_001345898.1:c.555G>T, NR_144314.2:n.1396G>T, NR_144314.1:n.1521G>T, NM_001300767.2:c.867G>T, NM_001300767.1:c.867G>T, NM_001345899.2:c.1002G>T, NM_001345899.1:c.1002G>T, NM_001345900.2:c.729G>T, NM_001345900.1:c.729G>T, NM_001345901.2:c.558G>T, NM_001345901.1:c.558G>T, XR_938701.4:n.1562G>T, XR_938701.3:n.1575G>T, XR_938701.2:n.1564G>T, XR_938701.1:n.1564G>T, XM_011531726.4:c.729G>T, XM_011531726.3:c.729G>T, XM_011531726.2:c.729G>T, XM_011531726.1:c.729G>T, XM_017007867.3:c.1254G>T, XM_017007867.2:c.1254G>T, XM_017007867.1:c.1254G>T, XM_011531720.2:c.1254G>T, XM_011531720.1:c.1254G>T, XM_011531723.2:c.867G>T, XM_011531723.1:c.867G>T, XM_017007872.2:c.558G>T, XM_017007872.1:c.558G>T, XM_047449751.1:c.729G>T, NP_689896.1:p.Trp418Cys, NP_001332820.1:p.Trp418Cys, NP_001332822.1:p.Trp417Cys, NP_001332821.1:p.Trp417Cys, NP_001332824.1:p.Trp418Cys, NP_001287697.1:p.Trp417Cys, NP_001332825.1:p.Trp417Cys, NP_001332823.1:p.Trp186Cys, NP_001332826.1:p.Trp186Cys, NP_001332827.1:p.Trp185Cys, NP_001287696.1:p.Trp289Cys, NP_001332828.1:p.Trp334Cys, NP_001332829.1:p.Trp243Cys, NP_001332830.1:p.Trp186Cys, XP_011530028.1:p.Trp243Cys, XP_016863356.1:p.Trp418Cys, XP_011530022.1:p.Trp418Cys, XP_011530025.1:p.Trp289Cys, XP_016863361.1:p.Trp186Cys, XP_047305707.1:p.Trp243Cys

                                16.

                                rs1468362874 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  4:184672426 (GRCh38)
                                  4:185593580 (GRCh37)
                                  Canonical SPDI:
                                  NC_000004.12:184672425:T:C
                                  Gene:
                                  PRIMPOL (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,non_coding_transcript_variant,synonymous_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_000004.12:g.184672426T>C, NC_000004.11:g.185593580T>C, NG_051582.1:g.27814T>C, NM_152683.4:c.810T>C, NM_152683.3:c.810T>C, NM_152683.2:c.810T>C, NR_144312.2:n.1115T>C, NR_144312.1:n.1240T>C, NM_001345891.2:c.810T>C, NM_001345891.1:c.810T>C, NM_001345893.2:c.810T>C, NM_001345893.1:c.810T>C, NM_001345892.2:c.810T>C, NM_001345892.1:c.810T>C, NM_001345895.2:c.810T>C, NM_001345895.1:c.810T>C, NM_001300768.2:c.810T>C, NM_001300768.1:c.810T>C, NM_001345896.2:c.810T>C, NM_001345896.1:c.810T>C, NM_001345894.2:c.114T>C, NM_001345894.1:c.114T>C, NR_144313.2:n.1115T>C, NR_144313.1:n.1240T>C, NM_001345897.2:c.114T>C, NM_001345897.1:c.114T>C, NM_001345898.2:c.114T>C, NM_001345898.1:c.114T>C, NR_144314.2:n.1118T>C, NR_144314.1:n.1243T>C, NM_001300767.2:c.423T>C, NM_001300767.1:c.423T>C, NM_001345899.2:c.810T>C, NM_001345899.1:c.810T>C, NM_001345900.2:c.285T>C, NM_001345900.1:c.285T>C, NM_001345901.2:c.114T>C, NM_001345901.1:c.114T>C, XR_938701.4:n.1118T>C, XR_938701.3:n.1131T>C, XR_938701.2:n.1120T>C, XR_938701.1:n.1120T>C, XM_011531726.4:c.285T>C, XM_011531726.3:c.285T>C, XM_011531726.2:c.285T>C, XM_011531726.1:c.285T>C, XM_017007867.3:c.810T>C, XM_017007867.2:c.810T>C, XM_017007867.1:c.810T>C, XM_011531720.2:c.810T>C, XM_011531720.1:c.810T>C, XM_011531723.2:c.423T>C, XM_011531723.1:c.423T>C, XM_017007872.2:c.114T>C, XM_017007872.1:c.114T>C, XM_047449751.1:c.285T>C, XM_047449752.1:c.810T>C, XM_047449753.1:c.810T>C

                                  17.

                                  rs1466259666 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    4:184691710 (GRCh38)
                                    4:185612864 (GRCh37)
                                    Canonical SPDI:
                                    NC_000004.12:184691709:G:A
                                    Gene:
                                    PRIMPOL (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000004.12:g.184691710G>A, NC_000004.11:g.185612864G>A, NG_051582.1:g.47098G>A, NM_152683.4:c.1423G>A, NM_152683.3:c.1423G>A, NM_152683.2:c.1423G>A, NR_144312.2:n.1728G>A, NR_144312.1:n.1853G>A, NM_001345891.2:c.1462G>A, NM_001345891.1:c.1462G>A, NM_001345893.2:c.1459G>A, NM_001345893.1:c.1459G>A, NM_001345892.2:c.1459G>A, NM_001345892.1:c.1459G>A, NM_001345895.2:c.1423G>A, NM_001345895.1:c.1423G>A, NM_001300768.2:c.1420G>A, NM_001300768.1:c.1420G>A, NM_001345896.2:c.1420G>A, NM_001345896.1:c.1420G>A, NM_001345894.2:c.766G>A, NM_001345894.1:c.766G>A, NR_144313.2:n.1639G>A, NR_144313.1:n.1764G>A, NM_001345897.2:c.727G>A, NM_001345897.1:c.727G>A, NM_001345898.2:c.724G>A, NM_001345898.1:c.724G>A, NR_144314.2:n.1565G>A, NR_144314.1:n.1690G>A, NM_001300767.2:c.1036G>A, NM_001300767.1:c.1036G>A, NM_001345899.2:c.1171G>A, NM_001345899.1:c.1171G>A, NM_001345900.2:c.898G>A, NM_001345900.1:c.898G>A, NM_001345901.2:c.727G>A, NM_001345901.1:c.727G>A, XR_938701.4:n.1770G>A, XR_938701.3:n.1783G>A, XR_938701.2:n.1772G>A, XR_938701.1:n.1772G>A, XM_011531726.4:c.937G>A, XM_011531726.3:c.937G>A, XM_011531726.2:c.937G>A, XM_011531726.1:c.937G>A, XM_017007867.3:c.1462G>A, XM_017007867.2:c.1462G>A, XM_017007867.1:c.1462G>A, XM_011531720.2:c.1462G>A, XM_011531720.1:c.1462G>A, XM_011531723.2:c.1075G>A, XM_011531723.1:c.1075G>A, XM_017007872.2:c.766G>A, XM_017007872.1:c.766G>A, XM_047449751.1:c.937G>A, NP_689896.1:p.Glu475Lys, NP_001332820.1:p.Glu488Lys, NP_001332822.1:p.Glu487Lys, NP_001332821.1:p.Glu487Lys, NP_001332824.1:p.Glu475Lys, NP_001287697.1:p.Glu474Lys, NP_001332825.1:p.Glu474Lys, NP_001332823.1:p.Glu256Lys, NP_001332826.1:p.Glu243Lys, NP_001332827.1:p.Glu242Lys, NP_001287696.1:p.Glu346Lys, NP_001332828.1:p.Glu391Lys, NP_001332829.1:p.Glu300Lys, NP_001332830.1:p.Glu243Lys, XP_011530028.1:p.Glu313Lys, XP_016863356.1:p.Glu488Lys, XP_011530022.1:p.Glu488Lys, XP_011530025.1:p.Glu359Lys, XP_016863361.1:p.Glu256Lys, XP_047305707.1:p.Glu313Lys

                                    18.

                                    rs1465447208 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      4:184678358 (GRCh38)
                                      4:185599512 (GRCh37)
                                      Canonical SPDI:
                                      NC_000004.12:184678357:A:G
                                      Gene:
                                      PRIMPOL (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      G=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000004.12:g.184678358A>G, NC_000004.11:g.185599512A>G, NG_051582.1:g.33746A>G, NM_152683.4:c.971A>G, NM_152683.3:c.971A>G, NM_152683.2:c.971A>G, NR_144312.2:n.1276A>G, NR_144312.1:n.1401A>G, NM_001345891.2:c.971A>G, NM_001345891.1:c.971A>G, NM_001345893.2:c.971A>G, NM_001345893.1:c.971A>G, NM_001345892.2:c.971A>G, NM_001345892.1:c.971A>G, NM_001345895.2:c.971A>G, NM_001345895.1:c.971A>G, NM_001300768.2:c.971A>G, NM_001300768.1:c.971A>G, NM_001345896.2:c.971A>G, NM_001345896.1:c.971A>G, NM_001345894.2:c.275A>G, NM_001345894.1:c.275A>G, NR_144313.2:n.1276A>G, NR_144313.1:n.1401A>G, NM_001345897.2:c.275A>G, NM_001345897.1:c.275A>G, NM_001345898.2:c.275A>G, NM_001345898.1:c.275A>G, NM_001300767.2:c.584A>G, NM_001300767.1:c.584A>G, NM_001345900.2:c.446A>G, NM_001345900.1:c.446A>G, NM_001345901.2:c.275A>G, NM_001345901.1:c.275A>G, XR_938701.4:n.1279A>G, XR_938701.3:n.1292A>G, XR_938701.2:n.1281A>G, XR_938701.1:n.1281A>G, XM_011531726.4:c.446A>G, XM_011531726.3:c.446A>G, XM_011531726.2:c.446A>G, XM_011531726.1:c.446A>G, XM_017007867.3:c.971A>G, XM_017007867.2:c.971A>G, XM_017007867.1:c.971A>G, XM_011531720.2:c.971A>G, XM_011531720.1:c.971A>G, XM_011531723.2:c.584A>G, XM_011531723.1:c.584A>G, XM_017007872.2:c.275A>G, XM_017007872.1:c.275A>G, XM_047449751.1:c.446A>G, XM_047449752.1:c.971A>G, NP_689896.1:p.Tyr324Cys, NP_001332820.1:p.Tyr324Cys, NP_001332822.1:p.Tyr324Cys, NP_001332821.1:p.Tyr324Cys, NP_001332824.1:p.Tyr324Cys, NP_001287697.1:p.Tyr324Cys, NP_001332825.1:p.Tyr324Cys, NP_001332823.1:p.Tyr92Cys, NP_001332826.1:p.Tyr92Cys, NP_001332827.1:p.Tyr92Cys, NP_001287696.1:p.Tyr195Cys, NP_001332829.1:p.Tyr149Cys, NP_001332830.1:p.Tyr92Cys, XP_011530028.1:p.Tyr149Cys, XP_016863356.1:p.Tyr324Cys, XP_011530022.1:p.Tyr324Cys, XP_011530025.1:p.Tyr195Cys, XP_016863361.1:p.Tyr92Cys, XP_047305707.1:p.Tyr149Cys, XP_047305708.1:p.Tyr324Cys

                                      19.

                                      rs1464777371 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        G>- [Show Flanks]
                                        Chromosome:
                                        4:184682303 (GRCh38)
                                        4:185603457 (GRCh37)
                                        Canonical SPDI:
                                        NC_000004.12:184682302:GG:G
                                        Gene:
                                        PRIMPOL (Varview)
                                        Functional Consequence:
                                        intron_variant,non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        GG=0./0 (ALFA)
                                        HGVS:
                                        NC_000004.12:g.184682304del, NC_000004.11:g.185603458del, NG_051582.1:g.37692del, NM_152683.4:c.1064del, NM_152683.3:c.1064del, NM_152683.2:c.1064del, NR_144312.2:n.1369del, NR_144312.1:n.1494del, NM_001345891.2:c.1064del, NM_001345891.1:c.1064del, NM_001345893.2:c.1064del, NM_001345893.1:c.1064del, NM_001345892.2:c.1064del, NM_001345892.1:c.1064del, NM_001345895.2:c.1064del, NM_001345895.1:c.1064del, NM_001300768.2:c.1064del, NM_001300768.1:c.1064del, NM_001345896.2:c.1064del, NM_001345896.1:c.1064del, NM_001345894.2:c.368del, NM_001345894.1:c.368del, NM_001345897.2:c.368del, NM_001345897.1:c.368del, NM_001345898.2:c.368del, NM_001345898.1:c.368del, NR_144314.2:n.1209del, NR_144314.1:n.1334del, NM_001300767.2:c.677del, NM_001300767.1:c.677del, NM_001345900.2:c.539del, NM_001345900.1:c.539del, NM_001345901.2:c.368del, NM_001345901.1:c.368del, XR_938701.4:n.1372del, XR_938701.3:n.1385del, XR_938701.2:n.1374del, XR_938701.1:n.1374del, XM_011531726.4:c.539del, XM_011531726.3:c.539del, XM_011531726.2:c.539del, XM_011531726.1:c.539del, XM_017007867.3:c.1064del, XM_017007867.2:c.1064del, XM_017007867.1:c.1064del, XM_011531720.2:c.1064del, XM_011531720.1:c.1064del, XM_011531723.2:c.677del, XM_011531723.1:c.677del, XM_017007872.2:c.368del, XM_017007872.1:c.368del, XM_047449751.1:c.539del, XM_047449753.1:c.901del, NP_689896.1:p.Gly355fs, NP_001332820.1:p.Gly355fs, NP_001332822.1:p.Gly355fs, NP_001332821.1:p.Gly355fs, NP_001332824.1:p.Gly355fs, NP_001287697.1:p.Gly355fs, NP_001332825.1:p.Gly355fs, NP_001332823.1:p.Gly123fs, NP_001332826.1:p.Gly123fs, NP_001332827.1:p.Gly123fs, NP_001287696.1:p.Gly226fs, NP_001332829.1:p.Gly180fs, NP_001332830.1:p.Gly123fs, XP_011530028.1:p.Gly180fs, XP_016863356.1:p.Gly355fs, XP_011530022.1:p.Gly355fs, XP_011530025.1:p.Gly226fs, XP_016863361.1:p.Gly123fs, XP_047305707.1:p.Gly180fs, XP_047305709.1:p.Glu301fs

                                        20.

                                        rs1462753445 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          4:184666052 (GRCh38)
                                          4:185587206 (GRCh37)
                                          Canonical SPDI:
                                          NC_000004.12:184666051:A:G
                                          Gene:
                                          PRIMPOL (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000015/4 (TOPMED)
                                          G=0.000043/6 (GnomAD)
                                          HGVS:
                                          NC_000004.12:g.184666052A>G, NC_000004.11:g.185587206A>G, NG_051582.1:g.21440A>G, NM_152683.4:c.544A>G, NM_152683.3:c.544A>G, NM_152683.2:c.544A>G, NR_144312.2:n.849A>G, NR_144312.1:n.974A>G, NM_001345891.2:c.544A>G, NM_001345891.1:c.544A>G, NM_001345893.2:c.544A>G, NM_001345893.1:c.544A>G, NM_001345892.2:c.544A>G, NM_001345892.1:c.544A>G, NM_001345895.2:c.544A>G, NM_001345895.1:c.544A>G, NM_001300768.2:c.544A>G, NM_001300768.1:c.544A>G, NM_001345896.2:c.544A>G, NM_001345896.1:c.544A>G, NM_001345894.2:c.-153A>G, NM_001345894.1:c.-153A>G, NR_144313.2:n.849A>G, NR_144313.1:n.974A>G, NM_001345897.2:c.-153A>G, NM_001345897.1:c.-153A>G, NM_001345898.2:c.-153A>G, NM_001345898.1:c.-153A>G, NR_144314.2:n.852A>G, NR_144314.1:n.977A>G, NM_001300767.2:c.157A>G, NM_001300767.1:c.157A>G, NM_001345899.2:c.544A>G, NM_001345899.1:c.544A>G, NM_001345901.2:c.-153A>G, NM_001345901.1:c.-153A>G, XR_938701.4:n.852A>G, XR_938701.3:n.865A>G, XR_938701.2:n.854A>G, XR_938701.1:n.854A>G, XM_017007867.3:c.544A>G, XM_017007867.2:c.544A>G, XM_017007867.1:c.544A>G, XM_011531720.2:c.544A>G, XM_011531720.1:c.544A>G, XM_011531723.2:c.157A>G, XM_011531723.1:c.157A>G, XM_017007872.2:c.-153A>G, XM_017007872.1:c.-153A>G, XM_047449752.1:c.544A>G, XM_047449753.1:c.544A>G, NP_689896.1:p.Asn182Asp, NP_001332820.1:p.Asn182Asp, NP_001332822.1:p.Asn182Asp, NP_001332821.1:p.Asn182Asp, NP_001332824.1:p.Asn182Asp, NP_001287697.1:p.Asn182Asp, NP_001332825.1:p.Asn182Asp, NP_001287696.1:p.Asn53Asp, NP_001332828.1:p.Asn182Asp, XP_016863356.1:p.Asn182Asp, XP_011530022.1:p.Asn182Asp, XP_011530025.1:p.Asn53Asp, XP_047305708.1:p.Asn182Asp, XP_047305709.1:p.Asn182Asp

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...