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Items: 1 to 20 of 323

1.

rs1489869704 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>T [Show Flanks]
    Chromosome:
    10:101579488 (GRCh38)
    10:103339245 (GRCh37)
    Canonical SPDI:
    NC_000010.11:101579487:G:T
    Gene:
    POLL (Varview)
    Functional Consequence:
    3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000010.11:g.101579488G>T, NC_000010.10:g.103339245G>T, NG_017063.1:g.13783C>A, NM_013274.4:c.1693C>A, NM_013274.3:c.1693C>A, NM_001174084.2:c.1693C>A, NM_001174084.1:c.1693C>A, NM_001174085.2:c.1417C>A, NM_001174085.1:c.1417C>A, NM_001308382.2:c.868C>A, NM_001308382.1:c.868C>A, NR_033406.1:n.1724C>A, XM_017016091.3:c.1186C>A, XM_017016091.2:c.1186C>A, XM_017016091.1:c.1186C>A, XM_011539662.3:c.931C>A, XM_011539662.2:c.931C>A, XM_011539662.1:c.931C>A, XM_006717775.3:c.910C>A, XM_006717775.2:c.910C>A, XM_006717775.1:c.910C>A, XM_011539664.3:c.889C>A, XM_011539664.2:c.889C>A, XM_011539664.1:c.889C>A, XM_006717777.3:c.868C>A, XM_006717777.2:c.868C>A, XM_006717777.1:c.868C>A, XM_017016088.3:c.*306C>A, XM_024447942.2:c.1450C>A, XM_024447942.1:c.1450C>A, XM_024447943.2:c.1429C>A, XM_024447943.1:c.1429C>A, XM_011539657.2:c.1450C>A, XM_011539657.1:c.1450C>A, XM_011539650.2:c.1714C>A, XM_011539650.1:c.1714C>A, XM_011539651.2:c.1693C>A, XM_011539651.1:c.1693C>A, XM_011539654.2:c.1438C>A, XM_011539654.1:c.1438C>A, XM_011539655.2:c.1417C>A, XM_011539655.1:c.1417C>A, XM_017016084.2:c.1411C>A, XM_017016084.1:c.1411C>A, XM_011539656.2:c.1396C>A, XM_011539656.1:c.1396C>A, XM_017016085.2:c.1390C>A, XM_017016085.1:c.1390C>A, XM_017016090.2:c.*306C>A, XM_017016090.1:c.*306C>A, XM_024447945.2:c.769C>A, XM_024447945.1:c.979C>A, XM_047425089.1:c.1207C>A, XM_047425091.1:c.1153C>A, XM_047425093.1:c.1132C>A, XM_047425095.1:c.1111C>A, XM_047425087.1:c.1450C>A, XM_047425088.1:c.1429C>A, XM_047425086.1:c.1375C>A, XM_047425090.1:c.1174C>A, XM_047425092.1:c.1147C>A, XM_047425094.1:c.1126C>A, XM_047425098.1:c.883C>A, NP_037406.1:p.Leu565Ile, NP_001167555.1:p.Leu565Ile, NP_001167556.1:p.Leu473Ile, NP_001295311.1:p.Leu290Ile, XP_016871580.1:p.Leu396Ile, XP_011537964.1:p.Leu311Ile, XP_006717838.1:p.Leu304Ile, XP_011537966.1:p.Leu297Ile, XP_006717840.1:p.Leu290Ile, XP_024303710.1:p.Leu484Ile, XP_024303711.1:p.Leu477Ile, XP_011537959.1:p.Leu484Ile, XP_011537952.1:p.Leu572Ile, XP_011537953.1:p.Leu565Ile, XP_011537956.1:p.Leu480Ile, XP_011537957.1:p.Leu473Ile, XP_016871573.1:p.Leu471Ile, XP_011537958.1:p.Leu466Ile, XP_016871574.1:p.Leu464Ile, XP_024303713.2:p.Leu257Ile, XP_047281045.1:p.Leu403Ile, XP_047281047.1:p.Leu385Ile, XP_047281049.1:p.Leu378Ile, XP_047281051.1:p.Leu371Ile, XP_047281043.1:p.Leu484Ile, XP_047281044.1:p.Leu477Ile, XP_047281042.1:p.Leu459Ile, XP_047281046.1:p.Leu392Ile, XP_047281048.1:p.Leu383Ile, XP_047281050.1:p.Leu376Ile, XP_047281054.1:p.Leu295Ile

    2.

    rs1489119194 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      10:101580365 (GRCh38)
      10:103340122 (GRCh37)
      Canonical SPDI:
      NC_000010.11:101580364:C:T
      Gene:
      POLL (Varview)
      Functional Consequence:
      synonymous_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000004/1 (TOPMED)
      T=0.000007/1 (GnomAD)
      HGVS:
      NC_000010.11:g.101580365C>T, NC_000010.10:g.103340122C>T, NG_017063.1:g.12906G>A, NM_013274.4:c.1246G>A, NM_013274.3:c.1246G>A, NM_001174084.2:c.1246G>A, NM_001174084.1:c.1246G>A, NM_001174085.2:c.970G>A, NM_001174085.1:c.970G>A, NM_001308382.2:c.421G>A, NM_001308382.1:c.421G>A, NR_033406.1:n.1277G>A, XM_017016091.3:c.739G>A, XM_017016091.2:c.739G>A, XM_017016091.1:c.739G>A, XM_011539662.3:c.463G>A, XM_011539662.2:c.463G>A, XM_011539662.1:c.463G>A, XM_006717775.3:c.463G>A, XM_006717775.2:c.463G>A, XM_006717775.1:c.463G>A, XM_011539664.3:c.421G>A, XM_011539664.2:c.421G>A, XM_011539664.1:c.421G>A, XM_006717777.3:c.421G>A, XM_006717777.2:c.421G>A, XM_006717777.1:c.421G>A, XM_017016088.3:c.939G>A, XM_017016088.2:c.939G>A, XM_017016088.1:c.939G>A, XM_024447942.2:c.982G>A, XM_024447942.1:c.982G>A, XM_024447943.2:c.982G>A, XM_024447943.1:c.982G>A, XM_011539657.2:c.982G>A, XM_011539657.1:c.982G>A, XM_011539650.2:c.1246G>A, XM_011539650.1:c.1246G>A, XM_011539651.2:c.1246G>A, XM_011539651.1:c.1246G>A, XM_011539654.2:c.970G>A, XM_011539654.1:c.970G>A, XM_011539655.2:c.970G>A, XM_011539655.1:c.970G>A, XM_017016084.2:c.943G>A, XM_017016084.1:c.943G>A, XM_011539656.2:c.928G>A, XM_011539656.1:c.928G>A, XM_017016085.2:c.943G>A, XM_017016085.1:c.943G>A, XM_017016090.2:c.939G>A, XM_017016090.1:c.939G>A, XM_024447945.2:c.322G>A, XM_024447945.1:c.532G>A, XM_047425089.1:c.739G>A, XM_047425091.1:c.706G>A, XM_047425093.1:c.664G>A, XM_047425095.1:c.664G>A, XM_047425087.1:c.982G>A, XM_047425088.1:c.982G>A, XM_047425086.1:c.928G>A, XM_047425090.1:c.706G>A, XM_047425092.1:c.679G>A, XM_047425094.1:c.679G>A, XM_047425098.1:c.436G>A, NP_037406.1:p.Gly416Ser, NP_001167555.1:p.Gly416Ser, NP_001167556.1:p.Gly324Ser, NP_001295311.1:p.Gly141Ser, XP_016871580.1:p.Gly247Ser, XP_011537964.1:p.Gly155Ser, XP_006717838.1:p.Gly155Ser, XP_011537966.1:p.Gly141Ser, XP_006717840.1:p.Gly141Ser, XP_024303710.1:p.Gly328Ser, XP_024303711.1:p.Gly328Ser, XP_011537959.1:p.Gly328Ser, XP_011537952.1:p.Gly416Ser, XP_011537953.1:p.Gly416Ser, XP_011537956.1:p.Gly324Ser, XP_011537957.1:p.Gly324Ser, XP_016871573.1:p.Gly315Ser, XP_011537958.1:p.Gly310Ser, XP_016871574.1:p.Gly315Ser, XP_024303713.2:p.Gly108Ser, XP_047281045.1:p.Gly247Ser, XP_047281047.1:p.Gly236Ser, XP_047281049.1:p.Gly222Ser, XP_047281051.1:p.Gly222Ser, XP_047281043.1:p.Gly328Ser, XP_047281044.1:p.Gly328Ser, XP_047281042.1:p.Gly310Ser, XP_047281046.1:p.Gly236Ser, XP_047281048.1:p.Gly227Ser, XP_047281050.1:p.Gly227Ser, XP_047281054.1:p.Gly146Ser

      3.

      rs1487589686 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        AT>- [Show Flanks]
        Chromosome:
        10:101583632 (GRCh38)
        10:103343389 (GRCh37)
        Canonical SPDI:
        NC_000010.11:101583630:TAT:T
        Gene:
        POLL (Varview)
        Functional Consequence:
        intron_variant,stop_lost,non_coding_transcript_variant,terminator_codon_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        -=0.000004/1 (TOPMED)
        -=0.000007/1 (GnomAD)
        HGVS:
        NC_000010.11:g.101583632_101583633del, NC_000010.10:g.103343389_103343390del, NG_051289.1:g.345_346del, NG_017063.1:g.9639_9640del, NM_013274.4:c.941_942del, NM_013274.3:c.941_942del, NM_001174084.2:c.941_942del, NM_001174084.1:c.941_942del, NM_001174085.2:c.665_666del, NM_001174085.1:c.665_666del, NM_001308382.2:c.116_117del, NM_001308382.1:c.116_117del, NR_033406.1:n.972_973del, XM_017016091.3:c.434_435del, XM_017016091.2:c.434_435del, XM_017016091.1:c.434_435del, XM_011539662.3:c.158_159del, XM_011539662.2:c.158_159del, XM_011539662.1:c.158_159del, XM_006717775.3:c.158_159del, XM_006717775.2:c.158_159del, XM_006717775.1:c.158_159del, XM_011539664.3:c.116_117del, XM_011539664.2:c.116_117del, XM_011539664.1:c.116_117del, XM_006717777.3:c.116_117del, XM_006717777.2:c.116_117del, XM_006717777.1:c.116_117del, XM_024447942.2:c.677_678del, XM_024447942.1:c.677_678del, XM_024447943.2:c.677_678del, XM_024447943.1:c.677_678del, XM_011539657.2:c.677_678del, XM_011539657.1:c.677_678del, XM_011539650.2:c.941_942del, XM_011539650.1:c.941_942del, XM_011539651.2:c.941_942del, XM_011539651.1:c.941_942del, XM_011539654.2:c.665_666del, XM_011539654.1:c.665_666del, XM_011539655.2:c.665_666del, XM_011539655.1:c.665_666del, XM_011539656.2:c.623_624del, XM_011539656.1:c.623_624del, XM_024447945.2:c.17_18del, XM_024447945.1:c.227_228del, XM_047425089.1:c.434_435del, XM_047425091.1:c.401_402del, XM_047425093.1:c.359_360del, XM_047425095.1:c.359_360del, XM_047425087.1:c.677_678del, XM_047425088.1:c.677_678del, XM_047425086.1:c.623_624del, XM_047425090.1:c.401_402del, XM_047425096.1:c.937_938del, NP_037406.1:p.Ile314fs, NP_001167555.1:p.Ile314fs, NP_001167556.1:p.Ile222fs, NP_001295311.1:p.Ile39fs, XP_016871580.1:p.Ile145fs, XP_011537964.1:p.Ile53fs, XP_006717838.1:p.Ile53fs, XP_011537966.1:p.Ile39fs, XP_006717840.1:p.Ile39fs, XP_024303710.1:p.Ile226fs, XP_024303711.1:p.Ile226fs, XP_011537959.1:p.Ile226fs, XP_011537952.1:p.Ile314fs, XP_011537953.1:p.Ile314fs, XP_011537956.1:p.Ile222fs, XP_011537957.1:p.Ile222fs, XP_011537958.1:p.Ile208fs, XP_024303713.2:p.Ile6fs, XP_047281045.1:p.Ile145fs, XP_047281047.1:p.Ile134fs, XP_047281049.1:p.Ile120fs, XP_047281051.1:p.Ile120fs, XP_047281043.1:p.Ile226fs, XP_047281044.1:p.Ile226fs, XP_047281042.1:p.Ile208fs, XP_047281046.1:p.Ile134fs, XP_047281052.1:p.Ter313GluextTer?

        4.

        rs1482224498 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          10:101579759 (GRCh38)
          10:103339516 (GRCh37)
          Canonical SPDI:
          NC_000010.11:101579758:C:A
          Gene:
          POLL (Varview)
          Functional Consequence:
          3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0.0002/1 (ALFA)
          A=0.0002/1 (Estonian)
          HGVS:
          NC_000010.11:g.101579759C>A, NC_000010.10:g.103339516C>A, NG_017063.1:g.13512G>T, NM_013274.4:c.1422G>T, NM_013274.3:c.1422G>T, NM_001174084.2:c.1422G>T, NM_001174084.1:c.1422G>T, NM_001174085.2:c.1146G>T, NM_001174085.1:c.1146G>T, NM_001308382.2:c.597G>T, NM_001308382.1:c.597G>T, NR_033406.1:n.1453G>T, XM_017016091.3:c.915G>T, XM_017016091.2:c.915G>T, XM_017016091.1:c.915G>T, XM_011539662.3:c.660G>T, XM_011539662.2:c.660G>T, XM_011539662.1:c.660G>T, XM_006717775.3:c.639G>T, XM_006717775.2:c.639G>T, XM_006717775.1:c.639G>T, XM_011539664.3:c.618G>T, XM_011539664.2:c.618G>T, XM_011539664.1:c.618G>T, XM_006717777.3:c.597G>T, XM_006717777.2:c.597G>T, XM_006717777.1:c.597G>T, XM_017016088.3:c.*35G>T, XM_017016088.2:c.*35G>T, XM_017016088.1:c.*35G>T, XM_024447942.2:c.1179G>T, XM_024447942.1:c.1179G>T, XM_024447943.2:c.1158G>T, XM_024447943.1:c.1158G>T, XM_011539657.2:c.1179G>T, XM_011539657.1:c.1179G>T, XM_011539650.2:c.1443G>T, XM_011539650.1:c.1443G>T, XM_011539651.2:c.1422G>T, XM_011539651.1:c.1422G>T, XM_011539654.2:c.1167G>T, XM_011539654.1:c.1167G>T, XM_011539655.2:c.1146G>T, XM_011539655.1:c.1146G>T, XM_017016084.2:c.1140G>T, XM_017016084.1:c.1140G>T, XM_011539656.2:c.1125G>T, XM_011539656.1:c.1125G>T, XM_017016085.2:c.1119G>T, XM_017016085.1:c.1119G>T, XM_017016090.2:c.*35G>T, XM_017016090.1:c.*35G>T, XM_024447945.2:c.498G>T, XM_024447945.1:c.708G>T, XM_047425089.1:c.936G>T, XM_047425091.1:c.882G>T, XM_047425093.1:c.861G>T, XM_047425095.1:c.840G>T, XM_047425087.1:c.1179G>T, XM_047425088.1:c.1158G>T, XM_047425086.1:c.1104G>T, XM_047425090.1:c.903G>T, XM_047425092.1:c.876G>T, XM_047425094.1:c.855G>T, XM_047425098.1:c.612G>T, NP_037406.1:p.Leu474Phe, NP_001167555.1:p.Leu474Phe, NP_001167556.1:p.Leu382Phe, NP_001295311.1:p.Leu199Phe, XP_016871580.1:p.Leu305Phe, XP_011537964.1:p.Leu220Phe, XP_006717838.1:p.Leu213Phe, XP_011537966.1:p.Leu206Phe, XP_006717840.1:p.Leu199Phe, XP_024303710.1:p.Leu393Phe, XP_024303711.1:p.Leu386Phe, XP_011537959.1:p.Leu393Phe, XP_011537952.1:p.Leu481Phe, XP_011537953.1:p.Leu474Phe, XP_011537956.1:p.Leu389Phe, XP_011537957.1:p.Leu382Phe, XP_016871573.1:p.Leu380Phe, XP_011537958.1:p.Leu375Phe, XP_016871574.1:p.Leu373Phe, XP_024303713.2:p.Leu166Phe, XP_047281045.1:p.Leu312Phe, XP_047281047.1:p.Leu294Phe, XP_047281049.1:p.Leu287Phe, XP_047281051.1:p.Leu280Phe, XP_047281043.1:p.Leu393Phe, XP_047281044.1:p.Leu386Phe, XP_047281042.1:p.Leu368Phe, XP_047281046.1:p.Leu301Phe, XP_047281048.1:p.Leu292Phe, XP_047281050.1:p.Leu285Phe, XP_047281054.1:p.Leu204Phe

          5.

          rs1481132312 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>T [Show Flanks]
            Chromosome:
            10:101579696 (GRCh38)
            10:103339453 (GRCh37)
            Canonical SPDI:
            NC_000010.11:101579695:G:T
            Gene:
            POLL (Varview)
            Functional Consequence:
            3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            T=0.000012/3 (GnomAD_exomes)
            HGVS:
            NC_000010.11:g.101579696G>T, NC_000010.10:g.103339453G>T, NG_017063.1:g.13575C>A, NM_013274.4:c.1485C>A, NM_013274.3:c.1485C>A, NM_001174084.2:c.1485C>A, NM_001174084.1:c.1485C>A, NM_001174085.2:c.1209C>A, NM_001174085.1:c.1209C>A, NM_001308382.2:c.660C>A, NM_001308382.1:c.660C>A, NR_033406.1:n.1516C>A, XM_017016091.3:c.978C>A, XM_017016091.2:c.978C>A, XM_017016091.1:c.978C>A, XM_011539662.3:c.723C>A, XM_011539662.2:c.723C>A, XM_011539662.1:c.723C>A, XM_006717775.3:c.702C>A, XM_006717775.2:c.702C>A, XM_006717775.1:c.702C>A, XM_011539664.3:c.681C>A, XM_011539664.2:c.681C>A, XM_011539664.1:c.681C>A, XM_006717777.3:c.660C>A, XM_006717777.2:c.660C>A, XM_006717777.1:c.660C>A, XM_017016088.3:c.*98C>A, XM_024447942.2:c.1242C>A, XM_024447942.1:c.1242C>A, XM_024447943.2:c.1221C>A, XM_024447943.1:c.1221C>A, XM_011539657.2:c.1242C>A, XM_011539657.1:c.1242C>A, XM_011539650.2:c.1506C>A, XM_011539650.1:c.1506C>A, XM_011539651.2:c.1485C>A, XM_011539651.1:c.1485C>A, XM_011539654.2:c.1230C>A, XM_011539654.1:c.1230C>A, XM_011539655.2:c.1209C>A, XM_011539655.1:c.1209C>A, XM_017016084.2:c.1203C>A, XM_017016084.1:c.1203C>A, XM_011539656.2:c.1188C>A, XM_011539656.1:c.1188C>A, XM_017016085.2:c.1182C>A, XM_017016085.1:c.1182C>A, XM_017016090.2:c.*98C>A, XM_017016090.1:c.*98C>A, XM_024447945.2:c.561C>A, XM_024447945.1:c.771C>A, XM_047425089.1:c.999C>A, XM_047425091.1:c.945C>A, XM_047425093.1:c.924C>A, XM_047425095.1:c.903C>A, XM_047425087.1:c.1242C>A, XM_047425088.1:c.1221C>A, XM_047425086.1:c.1167C>A, XM_047425090.1:c.966C>A, XM_047425092.1:c.939C>A, XM_047425094.1:c.918C>A, XM_047425098.1:c.675C>A

            6.

            rs1479647375 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>T [Show Flanks]
              Chromosome:
              10:101579711 (GRCh38)
              10:103339468 (GRCh37)
              Canonical SPDI:
              NC_000010.11:101579710:G:T
              Gene:
              POLL (Varview)
              Functional Consequence:
              3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              HGVS:
              NC_000010.11:g.101579711G>T, NC_000010.10:g.103339468G>T, NG_017063.1:g.13560C>A, NM_013274.4:c.1470C>A, NM_013274.3:c.1470C>A, NM_001174084.2:c.1470C>A, NM_001174084.1:c.1470C>A, NM_001174085.2:c.1194C>A, NM_001174085.1:c.1194C>A, NM_001308382.2:c.645C>A, NM_001308382.1:c.645C>A, NR_033406.1:n.1501C>A, XM_017016091.3:c.963C>A, XM_017016091.2:c.963C>A, XM_017016091.1:c.963C>A, XM_011539662.3:c.708C>A, XM_011539662.2:c.708C>A, XM_011539662.1:c.708C>A, XM_006717775.3:c.687C>A, XM_006717775.2:c.687C>A, XM_006717775.1:c.687C>A, XM_011539664.3:c.666C>A, XM_011539664.2:c.666C>A, XM_011539664.1:c.666C>A, XM_006717777.3:c.645C>A, XM_006717777.2:c.645C>A, XM_006717777.1:c.645C>A, XM_017016088.3:c.*83C>A, XM_017016088.2:c.*83C>A, XM_017016088.1:c.*83C>A, XM_024447942.2:c.1227C>A, XM_024447942.1:c.1227C>A, XM_024447943.2:c.1206C>A, XM_024447943.1:c.1206C>A, XM_011539657.2:c.1227C>A, XM_011539657.1:c.1227C>A, XM_011539650.2:c.1491C>A, XM_011539650.1:c.1491C>A, XM_011539651.2:c.1470C>A, XM_011539651.1:c.1470C>A, XM_011539654.2:c.1215C>A, XM_011539654.1:c.1215C>A, XM_011539655.2:c.1194C>A, XM_011539655.1:c.1194C>A, XM_017016084.2:c.1188C>A, XM_017016084.1:c.1188C>A, XM_011539656.2:c.1173C>A, XM_011539656.1:c.1173C>A, XM_017016085.2:c.1167C>A, XM_017016085.1:c.1167C>A, XM_017016090.2:c.*83C>A, XM_017016090.1:c.*83C>A, XM_024447945.2:c.546C>A, XM_024447945.1:c.756C>A, XM_047425089.1:c.984C>A, XM_047425091.1:c.930C>A, XM_047425093.1:c.909C>A, XM_047425095.1:c.888C>A, XM_047425087.1:c.1227C>A, XM_047425088.1:c.1206C>A, XM_047425086.1:c.1152C>A, XM_047425090.1:c.951C>A, XM_047425092.1:c.924C>A, XM_047425094.1:c.903C>A, XM_047425098.1:c.660C>A, NP_037406.1:p.Asp490Glu, NP_001167555.1:p.Asp490Glu, NP_001167556.1:p.Asp398Glu, NP_001295311.1:p.Asp215Glu, XP_016871580.1:p.Asp321Glu, XP_011537964.1:p.Asp236Glu, XP_006717838.1:p.Asp229Glu, XP_011537966.1:p.Asp222Glu, XP_006717840.1:p.Asp215Glu, XP_024303710.1:p.Asp409Glu, XP_024303711.1:p.Asp402Glu, XP_011537959.1:p.Asp409Glu, XP_011537952.1:p.Asp497Glu, XP_011537953.1:p.Asp490Glu, XP_011537956.1:p.Asp405Glu, XP_011537957.1:p.Asp398Glu, XP_016871573.1:p.Asp396Glu, XP_011537958.1:p.Asp391Glu, XP_016871574.1:p.Asp389Glu, XP_024303713.2:p.Asp182Glu, XP_047281045.1:p.Asp328Glu, XP_047281047.1:p.Asp310Glu, XP_047281049.1:p.Asp303Glu, XP_047281051.1:p.Asp296Glu, XP_047281043.1:p.Asp409Glu, XP_047281044.1:p.Asp402Glu, XP_047281042.1:p.Asp384Glu, XP_047281046.1:p.Asp317Glu, XP_047281048.1:p.Asp308Glu, XP_047281050.1:p.Asp301Glu, XP_047281054.1:p.Asp220Glu

              7.

              rs1476055186 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>C [Show Flanks]
                Chromosome:
                10:101587282 (GRCh38)
                10:103347039 (GRCh37)
                Canonical SPDI:
                NC_000010.11:101587281:T:C
                Gene:
                DPCD (Varview), POLL (Varview)
                Functional Consequence:
                intron_variant,2KB_upstream_variant,synonymous_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0.000071/1 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                C=0.000007/1 (GnomAD)
                C=0.000011/3 (TOPMED)
                HGVS:
                NC_000010.11:g.101587282T>C, NC_000010.10:g.103347039T>C, NG_051289.1:g.3995T>C, NG_017063.1:g.5989A>G, NM_013274.4:c.79A>G, NM_013274.3:c.79A>G, NM_001174084.2:c.79A>G, NM_001174084.1:c.79A>G, NM_001174085.2:c.79A>G, NM_001174085.1:c.79A>G, NM_001308382.2:c.30A>G, NM_001308382.1:c.30A>G, XM_017016091.3:c.30A>G, XM_017016091.2:c.30A>G, XM_017016091.1:c.30A>G, XM_011539662.3:c.30A>G, XM_011539662.2:c.30A>G, XM_011539662.1:c.30A>G, XM_006717775.3:c.30A>G, XM_006717775.2:c.30A>G, XM_006717775.1:c.30A>G, XM_011539664.3:c.30A>G, XM_011539664.2:c.30A>G, XM_011539664.1:c.30A>G, XM_006717777.3:c.30A>G, XM_006717777.2:c.30A>G, XM_006717777.1:c.30A>G, XM_017016088.3:c.79A>G, XM_017016088.2:c.79A>G, XM_017016088.1:c.79A>G, XM_011539650.2:c.79A>G, XM_011539650.1:c.79A>G, XM_011539651.2:c.79A>G, XM_011539651.1:c.79A>G, XM_011539654.2:c.79A>G, XM_011539654.1:c.79A>G, XM_011539655.2:c.79A>G, XM_011539655.1:c.79A>G, XM_017016084.2:c.79A>G, XM_017016084.1:c.79A>G, XM_011539656.2:c.79A>G, XM_011539656.1:c.79A>G, XM_017016085.2:c.79A>G, XM_017016085.1:c.79A>G, XM_017016090.2:c.79A>G, XM_017016090.1:c.79A>G, XM_047425089.1:c.30A>G, XM_047425086.1:c.79A>G, XM_047425098.1:c.30A>G, XM_047425096.1:c.79A>G, XM_047425097.1:c.79A>G, NP_037406.1:p.Lys27Glu, NP_001167555.1:p.Lys27Glu, NP_001167556.1:p.Lys27Glu, XP_016871577.1:p.Lys27Glu, XP_011537952.1:p.Lys27Glu, XP_011537953.1:p.Lys27Glu, XP_011537956.1:p.Lys27Glu, XP_011537957.1:p.Lys27Glu, XP_016871573.1:p.Lys27Glu, XP_011537958.1:p.Lys27Glu, XP_016871574.1:p.Lys27Glu, XP_016871579.1:p.Lys27Glu, XP_047281042.1:p.Lys27Glu, XP_047281052.1:p.Lys27Glu, XP_047281053.1:p.Lys27Glu

                8.

                rs1475770048 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  10:101583602 (GRCh38)
                  10:103343359 (GRCh37)
                  Canonical SPDI:
                  NC_000010.11:101583601:T:C
                  Gene:
                  POLL (Varview)
                  Functional Consequence:
                  3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  C=0.000028/1 (ALFA)
                  C=0.000004/1 (TOPMED)
                  HGVS:
                  NC_000010.11:g.101583602T>C, NC_000010.10:g.103343359T>C, NG_051289.1:g.315T>C, NG_017063.1:g.9669A>G, NM_013274.4:c.971A>G, NM_013274.3:c.971A>G, NM_001174084.2:c.971A>G, NM_001174084.1:c.971A>G, NM_001174085.2:c.695A>G, NM_001174085.1:c.695A>G, NM_001308382.2:c.146A>G, NM_001308382.1:c.146A>G, NR_033406.1:n.1002A>G, XM_017016091.3:c.464A>G, XM_017016091.2:c.464A>G, XM_017016091.1:c.464A>G, XM_011539662.3:c.188A>G, XM_011539662.2:c.188A>G, XM_011539662.1:c.188A>G, XM_006717775.3:c.188A>G, XM_006717775.2:c.188A>G, XM_006717775.1:c.188A>G, XM_011539664.3:c.146A>G, XM_011539664.2:c.146A>G, XM_011539664.1:c.146A>G, XM_006717777.3:c.146A>G, XM_006717777.2:c.146A>G, XM_006717777.1:c.146A>G, XM_024447942.2:c.707A>G, XM_024447942.1:c.707A>G, XM_024447943.2:c.707A>G, XM_024447943.1:c.707A>G, XM_011539657.2:c.707A>G, XM_011539657.1:c.707A>G, XM_011539650.2:c.971A>G, XM_011539650.1:c.971A>G, XM_011539651.2:c.971A>G, XM_011539651.1:c.971A>G, XM_011539654.2:c.695A>G, XM_011539654.1:c.695A>G, XM_011539655.2:c.695A>G, XM_011539655.1:c.695A>G, XM_011539656.2:c.653A>G, XM_011539656.1:c.653A>G, XM_024447945.2:c.47A>G, XM_024447945.1:c.257A>G, XM_047425089.1:c.464A>G, XM_047425091.1:c.431A>G, XM_047425093.1:c.389A>G, XM_047425095.1:c.389A>G, XM_047425087.1:c.707A>G, XM_047425088.1:c.707A>G, XM_047425086.1:c.653A>G, XM_047425090.1:c.431A>G, XM_047425096.1:c.*28A>G, NP_037406.1:p.Lys324Arg, NP_001167555.1:p.Lys324Arg, NP_001167556.1:p.Lys232Arg, NP_001295311.1:p.Lys49Arg, XP_016871580.1:p.Lys155Arg, XP_011537964.1:p.Lys63Arg, XP_006717838.1:p.Lys63Arg, XP_011537966.1:p.Lys49Arg, XP_006717840.1:p.Lys49Arg, XP_024303710.1:p.Lys236Arg, XP_024303711.1:p.Lys236Arg, XP_011537959.1:p.Lys236Arg, XP_011537952.1:p.Lys324Arg, XP_011537953.1:p.Lys324Arg, XP_011537956.1:p.Lys232Arg, XP_011537957.1:p.Lys232Arg, XP_011537958.1:p.Lys218Arg, XP_024303713.2:p.Lys16Arg, XP_047281045.1:p.Lys155Arg, XP_047281047.1:p.Lys144Arg, XP_047281049.1:p.Lys130Arg, XP_047281051.1:p.Lys130Arg, XP_047281043.1:p.Lys236Arg, XP_047281044.1:p.Lys236Arg, XP_047281042.1:p.Lys218Arg, XP_047281046.1:p.Lys144Arg

                  9.

                  rs1472836898 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    CT>- [Show Flanks]
                    Chromosome:
                    10:101583630 (GRCh38)
                    10:103343387 (GRCh37)
                    Canonical SPDI:
                    NC_000010.11:101583626:TCTCT:TCT
                    Gene:
                    POLL (Varview)
                    Functional Consequence:
                    frameshift_variant,coding_sequence_variant,3_prime_UTR_variant,terminator_codon_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    TCT=0./0 (ALFA)
                    -=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000010.11:g.101583628CT[1], NC_000010.10:g.103343385CT[1], NG_051289.1:g.341CT[1], NG_017063.1:g.9641GA[1], NM_013274.4:c.945_946del, NM_013274.3:c.945_946del, NM_001174084.2:c.945_946del, NM_001174084.1:c.945_946del, NM_001174085.2:c.669_670del, NM_001174085.1:c.669_670del, NM_001308382.2:c.120_121del, NM_001308382.1:c.120_121del, NR_033406.1:n.974GA[1], XM_017016091.3:c.438_439del, XM_017016091.2:c.438_439del, XM_017016091.1:c.438_439del, XM_011539662.3:c.162_163del, XM_011539662.2:c.162_163del, XM_011539662.1:c.162_163del, XM_006717775.3:c.162_163del, XM_006717775.2:c.162_163del, XM_006717775.1:c.162_163del, XM_011539664.3:c.120_121del, XM_011539664.2:c.120_121del, XM_011539664.1:c.120_121del, XM_006717777.3:c.120_121del, XM_006717777.2:c.120_121del, XM_006717777.1:c.120_121del, XM_024447942.2:c.681_682del, XM_024447942.1:c.681_682del, XM_024447943.2:c.681_682del, XM_024447943.1:c.681_682del, XM_011539657.2:c.681_682del, XM_011539657.1:c.681_682del, XM_011539650.2:c.945_946del, XM_011539650.1:c.945_946del, XM_011539651.2:c.945_946del, XM_011539651.1:c.945_946del, XM_011539654.2:c.669_670del, XM_011539654.1:c.669_670del, XM_011539655.2:c.669_670del, XM_011539655.1:c.669_670del, XM_011539656.2:c.627_628del, XM_011539656.1:c.627_628del, XM_024447945.2:c.21_22del, XM_024447945.1:c.231_232del, XM_047425089.1:c.438_439del, XM_047425091.1:c.405_406del, XM_047425093.1:c.363_364del, XM_047425095.1:c.363_364del, XM_047425087.1:c.681_682del, XM_047425088.1:c.681_682del, XM_047425086.1:c.627_628del, XM_047425090.1:c.405_406del, XM_047425096.1:c.939GA[1], NP_037406.1:p.Glu315fs, NP_001167555.1:p.Glu315fs, NP_001167556.1:p.Glu223fs, NP_001295311.1:p.Glu40fs, XP_016871580.1:p.Glu146fs, XP_011537964.1:p.Glu54fs, XP_006717838.1:p.Glu54fs, XP_011537966.1:p.Glu40fs, XP_006717840.1:p.Glu40fs, XP_024303710.1:p.Glu227fs, XP_024303711.1:p.Glu227fs, XP_011537959.1:p.Glu227fs, XP_011537952.1:p.Glu315fs, XP_011537953.1:p.Glu315fs, XP_011537956.1:p.Glu223fs, XP_011537957.1:p.Glu223fs, XP_011537958.1:p.Glu209fs, XP_024303713.2:p.Glu7fs, XP_047281045.1:p.Glu146fs, XP_047281047.1:p.Glu135fs, XP_047281049.1:p.Glu121fs, XP_047281051.1:p.Glu121fs, XP_047281043.1:p.Glu227fs, XP_047281044.1:p.Glu227fs, XP_047281042.1:p.Glu209fs, XP_047281046.1:p.Glu135fs

                    10.

                    rs1472299526 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      10:101579566 (GRCh38)
                      10:103339323 (GRCh37)
                      Canonical SPDI:
                      NC_000010.11:101579565:T:C
                      Gene:
                      POLL (Varview)
                      Functional Consequence:
                      coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_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_000010.11:g.101579566T>C, NC_000010.10:g.103339323T>C, NG_017063.1:g.13705A>G, NM_013274.4:c.1615A>G, NM_013274.3:c.1615A>G, NM_001174084.2:c.1615A>G, NM_001174084.1:c.1615A>G, NM_001174085.2:c.1339A>G, NM_001174085.1:c.1339A>G, NM_001308382.2:c.790A>G, NM_001308382.1:c.790A>G, NR_033406.1:n.1646A>G, XM_017016091.3:c.1108A>G, XM_017016091.2:c.1108A>G, XM_017016091.1:c.1108A>G, XM_011539662.3:c.853A>G, XM_011539662.2:c.853A>G, XM_011539662.1:c.853A>G, XM_006717775.3:c.832A>G, XM_006717775.2:c.832A>G, XM_006717775.1:c.832A>G, XM_011539664.3:c.811A>G, XM_011539664.2:c.811A>G, XM_011539664.1:c.811A>G, XM_006717777.3:c.790A>G, XM_006717777.2:c.790A>G, XM_006717777.1:c.790A>G, XM_017016088.3:c.*228A>G, XM_024447942.2:c.1372A>G, XM_024447942.1:c.1372A>G, XM_024447943.2:c.1351A>G, XM_024447943.1:c.1351A>G, XM_011539657.2:c.1372A>G, XM_011539657.1:c.1372A>G, XM_011539650.2:c.1636A>G, XM_011539650.1:c.1636A>G, XM_011539651.2:c.1615A>G, XM_011539651.1:c.1615A>G, XM_011539654.2:c.1360A>G, XM_011539654.1:c.1360A>G, XM_011539655.2:c.1339A>G, XM_011539655.1:c.1339A>G, XM_017016084.2:c.1333A>G, XM_017016084.1:c.1333A>G, XM_011539656.2:c.1318A>G, XM_011539656.1:c.1318A>G, XM_017016085.2:c.1312A>G, XM_017016085.1:c.1312A>G, XM_017016090.2:c.*228A>G, XM_017016090.1:c.*228A>G, XM_024447945.2:c.691A>G, XM_024447945.1:c.901A>G, XM_047425089.1:c.1129A>G, XM_047425091.1:c.1075A>G, XM_047425093.1:c.1054A>G, XM_047425095.1:c.1033A>G, XM_047425087.1:c.1372A>G, XM_047425088.1:c.1351A>G, XM_047425086.1:c.1297A>G, XM_047425090.1:c.1096A>G, XM_047425092.1:c.1069A>G, XM_047425094.1:c.1048A>G, XM_047425098.1:c.805A>G, NP_037406.1:p.Asn539Asp, NP_001167555.1:p.Asn539Asp, NP_001167556.1:p.Asn447Asp, NP_001295311.1:p.Asn264Asp, XP_016871580.1:p.Asn370Asp, XP_011537964.1:p.Asn285Asp, XP_006717838.1:p.Asn278Asp, XP_011537966.1:p.Asn271Asp, XP_006717840.1:p.Asn264Asp, XP_024303710.1:p.Asn458Asp, XP_024303711.1:p.Asn451Asp, XP_011537959.1:p.Asn458Asp, XP_011537952.1:p.Asn546Asp, XP_011537953.1:p.Asn539Asp, XP_011537956.1:p.Asn454Asp, XP_011537957.1:p.Asn447Asp, XP_016871573.1:p.Asn445Asp, XP_011537958.1:p.Asn440Asp, XP_016871574.1:p.Asn438Asp, XP_024303713.2:p.Asn231Asp, XP_047281045.1:p.Asn377Asp, XP_047281047.1:p.Asn359Asp, XP_047281049.1:p.Asn352Asp, XP_047281051.1:p.Asn345Asp, XP_047281043.1:p.Asn458Asp, XP_047281044.1:p.Asn451Asp, XP_047281042.1:p.Asn433Asp, XP_047281046.1:p.Asn366Asp, XP_047281048.1:p.Asn357Asp, XP_047281050.1:p.Asn350Asp, XP_047281054.1:p.Asn269Asp

                      11.

                      rs1466134078 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        10:101583565 (GRCh38)
                        10:103343322 (GRCh37)
                        Canonical SPDI:
                        NC_000010.11:101583564:C:T
                        Gene:
                        POLL (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000008/2 (GnomAD_exomes)
                        HGVS:
                        NC_000010.11:g.101583565C>T, NC_000010.10:g.103343322C>T, NG_051289.1:g.278C>T, NG_017063.1:g.9706G>A, NM_013274.4:c.1008G>A, NM_013274.3:c.1008G>A, NM_001174084.2:c.1008G>A, NM_001174084.1:c.1008G>A, NM_001174085.2:c.732G>A, NM_001174085.1:c.732G>A, NM_001308382.2:c.183G>A, NM_001308382.1:c.183G>A, NR_033406.1:n.1039G>A, XM_017016091.3:c.501G>A, XM_017016091.2:c.501G>A, XM_017016091.1:c.501G>A, XM_011539662.3:c.225G>A, XM_011539662.2:c.225G>A, XM_011539662.1:c.225G>A, XM_006717775.3:c.225G>A, XM_006717775.2:c.225G>A, XM_006717775.1:c.225G>A, XM_011539664.3:c.183G>A, XM_011539664.2:c.183G>A, XM_011539664.1:c.183G>A, XM_006717777.3:c.183G>A, XM_006717777.2:c.183G>A, XM_006717777.1:c.183G>A, XM_024447942.2:c.744G>A, XM_024447942.1:c.744G>A, XM_024447943.2:c.744G>A, XM_024447943.1:c.744G>A, XM_011539657.2:c.744G>A, XM_011539657.1:c.744G>A, XM_011539650.2:c.1008G>A, XM_011539650.1:c.1008G>A, XM_011539651.2:c.1008G>A, XM_011539651.1:c.1008G>A, XM_011539654.2:c.732G>A, XM_011539654.1:c.732G>A, XM_011539655.2:c.732G>A, XM_011539655.1:c.732G>A, XM_011539656.2:c.690G>A, XM_011539656.1:c.690G>A, XM_024447945.2:c.84G>A, XM_024447945.1:c.294G>A, XM_047425089.1:c.501G>A, XM_047425091.1:c.468G>A, XM_047425093.1:c.426G>A, XM_047425095.1:c.426G>A, XM_047425087.1:c.744G>A, XM_047425088.1:c.744G>A, XM_047425086.1:c.690G>A, XM_047425090.1:c.468G>A, XM_047425096.1:c.*65G>A

                        12.

                        rs1465176639 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          10:101579699 (GRCh38)
                          10:103339456 (GRCh37)
                          Canonical SPDI:
                          NC_000010.11:101579698:C:T
                          Gene:
                          POLL (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          HGVS:
                          NC_000010.11:g.101579699C>T, NC_000010.10:g.103339456C>T, NG_017063.1:g.13572G>A, NM_013274.4:c.1482G>A, NM_013274.3:c.1482G>A, NM_001174084.2:c.1482G>A, NM_001174084.1:c.1482G>A, NM_001174085.2:c.1206G>A, NM_001174085.1:c.1206G>A, NM_001308382.2:c.657G>A, NM_001308382.1:c.657G>A, NR_033406.1:n.1513G>A, XM_017016091.3:c.975G>A, XM_017016091.2:c.975G>A, XM_017016091.1:c.975G>A, XM_011539662.3:c.720G>A, XM_011539662.2:c.720G>A, XM_011539662.1:c.720G>A, XM_006717775.3:c.699G>A, XM_006717775.2:c.699G>A, XM_006717775.1:c.699G>A, XM_011539664.3:c.678G>A, XM_011539664.2:c.678G>A, XM_011539664.1:c.678G>A, XM_006717777.3:c.657G>A, XM_006717777.2:c.657G>A, XM_006717777.1:c.657G>A, XM_017016088.3:c.*95G>A, XM_024447942.2:c.1239G>A, XM_024447942.1:c.1239G>A, XM_024447943.2:c.1218G>A, XM_024447943.1:c.1218G>A, XM_011539657.2:c.1239G>A, XM_011539657.1:c.1239G>A, XM_011539650.2:c.1503G>A, XM_011539650.1:c.1503G>A, XM_011539651.2:c.1482G>A, XM_011539651.1:c.1482G>A, XM_011539654.2:c.1227G>A, XM_011539654.1:c.1227G>A, XM_011539655.2:c.1206G>A, XM_011539655.1:c.1206G>A, XM_017016084.2:c.1200G>A, XM_017016084.1:c.1200G>A, XM_011539656.2:c.1185G>A, XM_011539656.1:c.1185G>A, XM_017016085.2:c.1179G>A, XM_017016085.1:c.1179G>A, XM_017016090.2:c.*95G>A, XM_017016090.1:c.*95G>A, XM_024447945.2:c.558G>A, XM_024447945.1:c.768G>A, XM_047425089.1:c.996G>A, XM_047425091.1:c.942G>A, XM_047425093.1:c.921G>A, XM_047425095.1:c.900G>A, XM_047425087.1:c.1239G>A, XM_047425088.1:c.1218G>A, XM_047425086.1:c.1164G>A, XM_047425090.1:c.963G>A, XM_047425092.1:c.936G>A, XM_047425094.1:c.915G>A, XM_047425098.1:c.672G>A

                          13.

                          rs1455078217 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>T [Show Flanks]
                            Chromosome:
                            10:101580291 (GRCh38)
                            10:103340048 (GRCh37)
                            Canonical SPDI:
                            NC_000010.11:101580290:G:T
                            Gene:
                            POLL (Varview)
                            Functional Consequence:
                            genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0./0 (ALFA)
                            T=0.000004/1 (GnomAD_exomes)
                            T=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000010.11:g.101580291G>T, NC_000010.10:g.103340048G>T, NG_017063.1:g.12980C>A, NM_013274.4:c.1320C>A, NM_013274.3:c.1320C>A, NM_001174084.2:c.1320C>A, NM_001174084.1:c.1320C>A, NM_001174085.2:c.1044C>A, NM_001174085.1:c.1044C>A, NM_001308382.2:c.495C>A, NM_001308382.1:c.495C>A, NR_033406.1:n.1351C>A, XM_017016091.3:c.813C>A, XM_017016091.2:c.813C>A, XM_017016091.1:c.813C>A, XM_011539662.3:c.537C>A, XM_011539662.2:c.537C>A, XM_011539662.1:c.537C>A, XM_006717775.3:c.537C>A, XM_006717775.2:c.537C>A, XM_006717775.1:c.537C>A, XM_011539664.3:c.495C>A, XM_011539664.2:c.495C>A, XM_011539664.1:c.495C>A, XM_006717777.3:c.495C>A, XM_006717777.2:c.495C>A, XM_006717777.1:c.495C>A, XM_017016088.3:c.1013C>A, XM_017016088.2:c.1013C>A, XM_017016088.1:c.1013C>A, XM_024447942.2:c.1056C>A, XM_024447942.1:c.1056C>A, XM_024447943.2:c.1056C>A, XM_024447943.1:c.1056C>A, XM_011539657.2:c.1056C>A, XM_011539657.1:c.1056C>A, XM_011539650.2:c.1320C>A, XM_011539650.1:c.1320C>A, XM_011539651.2:c.1320C>A, XM_011539651.1:c.1320C>A, XM_011539654.2:c.1044C>A, XM_011539654.1:c.1044C>A, XM_011539655.2:c.1044C>A, XM_011539655.1:c.1044C>A, XM_017016084.2:c.1017C>A, XM_017016084.1:c.1017C>A, XM_011539656.2:c.1002C>A, XM_011539656.1:c.1002C>A, XM_017016085.2:c.1017C>A, XM_017016085.1:c.1017C>A, XM_017016090.2:c.1013C>A, XM_017016090.1:c.1013C>A, XM_024447945.2:c.396C>A, XM_024447945.1:c.606C>A, XM_047425089.1:c.813C>A, XM_047425091.1:c.780C>A, XM_047425093.1:c.738C>A, XM_047425095.1:c.738C>A, XM_047425087.1:c.1056C>A, XM_047425088.1:c.1056C>A, XM_047425086.1:c.1002C>A, XM_047425090.1:c.780C>A, XM_047425092.1:c.753C>A, XM_047425094.1:c.753C>A, XM_047425098.1:c.510C>A, NP_037406.1:p.His440Gln, NP_001167555.1:p.His440Gln, NP_001167556.1:p.His348Gln, NP_001295311.1:p.His165Gln, XP_016871580.1:p.His271Gln, XP_011537964.1:p.His179Gln, XP_006717838.1:p.His179Gln, XP_011537966.1:p.His165Gln, XP_006717840.1:p.His165Gln, XP_016871577.1:p.Thr338Asn, XP_024303710.1:p.His352Gln, XP_024303711.1:p.His352Gln, XP_011537959.1:p.His352Gln, XP_011537952.1:p.His440Gln, XP_011537953.1:p.His440Gln, XP_011537956.1:p.His348Gln, XP_011537957.1:p.His348Gln, XP_016871573.1:p.His339Gln, XP_011537958.1:p.His334Gln, XP_016871574.1:p.His339Gln, XP_016871579.1:p.Thr338Asn, XP_024303713.2:p.His132Gln, XP_047281045.1:p.His271Gln, XP_047281047.1:p.His260Gln, XP_047281049.1:p.His246Gln, XP_047281051.1:p.His246Gln, XP_047281043.1:p.His352Gln, XP_047281044.1:p.His352Gln, XP_047281042.1:p.His334Gln, XP_047281046.1:p.His260Gln, XP_047281048.1:p.His251Gln, XP_047281050.1:p.His251Gln, XP_047281054.1:p.His170Gln

                            14.

                            rs1447671878 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              10:101579631 (GRCh38)
                              10:103339388 (GRCh37)
                              Canonical SPDI:
                              NC_000010.11:101579630:C:T
                              Gene:
                              POLL (Varview)
                              Functional Consequence:
                              3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000028/1 (ALFA)
                              T=0.000014/2 (GnomAD)
                              T=0.000015/4 (TOPMED)
                              HGVS:
                              NC_000010.11:g.101579631C>T, NC_000010.10:g.103339388C>T, NG_017063.1:g.13640G>A, NM_013274.4:c.1550G>A, NM_013274.3:c.1550G>A, NM_001174084.2:c.1550G>A, NM_001174084.1:c.1550G>A, NM_001174085.2:c.1274G>A, NM_001174085.1:c.1274G>A, NM_001308382.2:c.725G>A, NM_001308382.1:c.725G>A, NR_033406.1:n.1581G>A, XM_017016091.3:c.1043G>A, XM_017016091.2:c.1043G>A, XM_017016091.1:c.1043G>A, XM_011539662.3:c.788G>A, XM_011539662.2:c.788G>A, XM_011539662.1:c.788G>A, XM_006717775.3:c.767G>A, XM_006717775.2:c.767G>A, XM_006717775.1:c.767G>A, XM_011539664.3:c.746G>A, XM_011539664.2:c.746G>A, XM_011539664.1:c.746G>A, XM_006717777.3:c.725G>A, XM_006717777.2:c.725G>A, XM_006717777.1:c.725G>A, XM_017016088.3:c.*163G>A, XM_024447942.2:c.1307G>A, XM_024447942.1:c.1307G>A, XM_024447943.2:c.1286G>A, XM_024447943.1:c.1286G>A, XM_011539657.2:c.1307G>A, XM_011539657.1:c.1307G>A, XM_011539650.2:c.1571G>A, XM_011539650.1:c.1571G>A, XM_011539651.2:c.1550G>A, XM_011539651.1:c.1550G>A, XM_011539654.2:c.1295G>A, XM_011539654.1:c.1295G>A, XM_011539655.2:c.1274G>A, XM_011539655.1:c.1274G>A, XM_017016084.2:c.1268G>A, XM_017016084.1:c.1268G>A, XM_011539656.2:c.1253G>A, XM_011539656.1:c.1253G>A, XM_017016085.2:c.1247G>A, XM_017016085.1:c.1247G>A, XM_017016090.2:c.*163G>A, XM_017016090.1:c.*163G>A, XM_024447945.2:c.626G>A, XM_024447945.1:c.836G>A, XM_047425089.1:c.1064G>A, XM_047425091.1:c.1010G>A, XM_047425093.1:c.989G>A, XM_047425095.1:c.968G>A, XM_047425087.1:c.1307G>A, XM_047425088.1:c.1286G>A, XM_047425086.1:c.1232G>A, XM_047425090.1:c.1031G>A, XM_047425092.1:c.1004G>A, XM_047425094.1:c.983G>A, XM_047425098.1:c.740G>A, NP_037406.1:p.Arg517Gln, NP_001167555.1:p.Arg517Gln, NP_001167556.1:p.Arg425Gln, NP_001295311.1:p.Arg242Gln, XP_016871580.1:p.Arg348Gln, XP_011537964.1:p.Arg263Gln, XP_006717838.1:p.Arg256Gln, XP_011537966.1:p.Arg249Gln, XP_006717840.1:p.Arg242Gln, XP_024303710.1:p.Arg436Gln, XP_024303711.1:p.Arg429Gln, XP_011537959.1:p.Arg436Gln, XP_011537952.1:p.Arg524Gln, XP_011537953.1:p.Arg517Gln, XP_011537956.1:p.Arg432Gln, XP_011537957.1:p.Arg425Gln, XP_016871573.1:p.Arg423Gln, XP_011537958.1:p.Arg418Gln, XP_016871574.1:p.Arg416Gln, XP_024303713.2:p.Arg209Gln, XP_047281045.1:p.Arg355Gln, XP_047281047.1:p.Arg337Gln, XP_047281049.1:p.Arg330Gln, XP_047281051.1:p.Arg323Gln, XP_047281043.1:p.Arg436Gln, XP_047281044.1:p.Arg429Gln, XP_047281042.1:p.Arg411Gln, XP_047281046.1:p.Arg344Gln, XP_047281048.1:p.Arg335Gln, XP_047281050.1:p.Arg328Gln, XP_047281054.1:p.Arg247Gln

                              15.

                              rs1447377968 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                10:101582794 (GRCh38)
                                10:103342551 (GRCh37)
                                Canonical SPDI:
                                NC_000010.11:101582793:G:A
                                Gene:
                                POLL (Varview)
                                Functional Consequence:
                                intron_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0.000043/1 (ALFA)
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000010.11:g.101582794G>A, NC_000010.10:g.103342551G>A, NG_017063.1:g.10477C>T, NM_013274.4:c.1163C>T, NM_013274.3:c.1163C>T, NM_001174084.2:c.1163C>T, NM_001174084.1:c.1163C>T, NM_001174085.2:c.887C>T, NM_001174085.1:c.887C>T, NM_001308382.2:c.338C>T, NM_001308382.1:c.338C>T, NR_033406.1:n.1194C>T, XM_017016091.3:c.656C>T, XM_017016091.2:c.656C>T, XM_017016091.1:c.656C>T, XM_011539662.3:c.380C>T, XM_011539662.2:c.380C>T, XM_011539662.1:c.380C>T, XM_006717775.3:c.380C>T, XM_006717775.2:c.380C>T, XM_006717775.1:c.380C>T, XM_011539664.3:c.338C>T, XM_011539664.2:c.338C>T, XM_011539664.1:c.338C>T, XM_006717777.3:c.338C>T, XM_006717777.2:c.338C>T, XM_006717777.1:c.338C>T, XM_024447942.2:c.899C>T, XM_024447942.1:c.899C>T, XM_024447943.2:c.899C>T, XM_024447943.1:c.899C>T, XM_011539657.2:c.899C>T, XM_011539657.1:c.899C>T, XM_011539650.2:c.1163C>T, XM_011539650.1:c.1163C>T, XM_011539651.2:c.1163C>T, XM_011539651.1:c.1163C>T, XM_011539654.2:c.887C>T, XM_011539654.1:c.887C>T, XM_011539655.2:c.887C>T, XM_011539655.1:c.887C>T, XM_011539656.2:c.845C>T, XM_011539656.1:c.845C>T, XM_024447945.2:c.239C>T, XM_024447945.1:c.449C>T, XM_047425089.1:c.656C>T, XM_047425091.1:c.623C>T, XM_047425093.1:c.581C>T, XM_047425095.1:c.581C>T, XM_047425087.1:c.899C>T, XM_047425088.1:c.899C>T, XM_047425086.1:c.845C>T, XM_047425090.1:c.623C>T, NP_037406.1:p.Pro388Leu, NP_001167555.1:p.Pro388Leu, NP_001167556.1:p.Pro296Leu, NP_001295311.1:p.Pro113Leu, XP_016871580.1:p.Pro219Leu, XP_011537964.1:p.Pro127Leu, XP_006717838.1:p.Pro127Leu, XP_011537966.1:p.Pro113Leu, XP_006717840.1:p.Pro113Leu, XP_024303710.1:p.Pro300Leu, XP_024303711.1:p.Pro300Leu, XP_011537959.1:p.Pro300Leu, XP_011537952.1:p.Pro388Leu, XP_011537953.1:p.Pro388Leu, XP_011537956.1:p.Pro296Leu, XP_011537957.1:p.Pro296Leu, XP_011537958.1:p.Pro282Leu, XP_024303713.2:p.Pro80Leu, XP_047281045.1:p.Pro219Leu, XP_047281047.1:p.Pro208Leu, XP_047281049.1:p.Pro194Leu, XP_047281051.1:p.Pro194Leu, XP_047281043.1:p.Pro300Leu, XP_047281044.1:p.Pro300Leu, XP_047281042.1:p.Pro282Leu, XP_047281046.1:p.Pro208Leu

                                16.

                                rs1445512595 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  10:101583510 (GRCh38)
                                  10:103343267 (GRCh37)
                                  Canonical SPDI:
                                  NC_000010.11:101583509:G:C
                                  Gene:
                                  POLL (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (GnomAD_exomes)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000010.11:g.101583510G>C, NC_000010.10:g.103343267G>C, NG_051289.1:g.223G>C, NG_017063.1:g.9761C>G, NM_013274.4:c.1063C>G, NM_013274.3:c.1063C>G, NM_001174084.2:c.1063C>G, NM_001174084.1:c.1063C>G, NM_001174085.2:c.787C>G, NM_001174085.1:c.787C>G, NM_001308382.2:c.238C>G, NM_001308382.1:c.238C>G, NR_033406.1:n.1094C>G, XM_017016091.3:c.556C>G, XM_017016091.2:c.556C>G, XM_017016091.1:c.556C>G, XM_011539662.3:c.280C>G, XM_011539662.2:c.280C>G, XM_011539662.1:c.280C>G, XM_006717775.3:c.280C>G, XM_006717775.2:c.280C>G, XM_006717775.1:c.280C>G, XM_011539664.3:c.238C>G, XM_011539664.2:c.238C>G, XM_011539664.1:c.238C>G, XM_006717777.3:c.238C>G, XM_006717777.2:c.238C>G, XM_006717777.1:c.238C>G, XM_024447942.2:c.799C>G, XM_024447942.1:c.799C>G, XM_024447943.2:c.799C>G, XM_024447943.1:c.799C>G, XM_011539657.2:c.799C>G, XM_011539657.1:c.799C>G, XM_011539650.2:c.1063C>G, XM_011539650.1:c.1063C>G, XM_011539651.2:c.1063C>G, XM_011539651.1:c.1063C>G, XM_011539654.2:c.787C>G, XM_011539654.1:c.787C>G, XM_011539655.2:c.787C>G, XM_011539655.1:c.787C>G, XM_011539656.2:c.745C>G, XM_011539656.1:c.745C>G, XM_024447945.2:c.139C>G, XM_024447945.1:c.349C>G, XM_047425089.1:c.556C>G, XM_047425091.1:c.523C>G, XM_047425093.1:c.481C>G, XM_047425095.1:c.481C>G, XM_047425087.1:c.799C>G, XM_047425088.1:c.799C>G, XM_047425086.1:c.745C>G, XM_047425090.1:c.523C>G, NP_037406.1:p.Gln355Glu, NP_001167555.1:p.Gln355Glu, NP_001167556.1:p.Gln263Glu, NP_001295311.1:p.Gln80Glu, XP_016871580.1:p.Gln186Glu, XP_011537964.1:p.Gln94Glu, XP_006717838.1:p.Gln94Glu, XP_011537966.1:p.Gln80Glu, XP_006717840.1:p.Gln80Glu, XP_024303710.1:p.Gln267Glu, XP_024303711.1:p.Gln267Glu, XP_011537959.1:p.Gln267Glu, XP_011537952.1:p.Gln355Glu, XP_011537953.1:p.Gln355Glu, XP_011537956.1:p.Gln263Glu, XP_011537957.1:p.Gln263Glu, XP_011537958.1:p.Gln249Glu, XP_024303713.2:p.Gln47Glu, XP_047281045.1:p.Gln186Glu, XP_047281047.1:p.Gln175Glu, XP_047281049.1:p.Gln161Glu, XP_047281051.1:p.Gln161Glu, XP_047281043.1:p.Gln267Glu, XP_047281044.1:p.Gln267Glu, XP_047281042.1:p.Gln249Glu, XP_047281046.1:p.Gln175Glu

                                  17.

                                  rs1445065119 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    10:101579527 (GRCh38)
                                    10:103339284 (GRCh37)
                                    Canonical SPDI:
                                    NC_000010.11:101579526:G:A
                                    Gene:
                                    POLL (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000010.11:g.101579527G>A, NC_000010.10:g.103339284G>A, NG_017063.1:g.13744C>T, NM_013274.4:c.1654C>T, NM_013274.3:c.1654C>T, NM_001174084.2:c.1654C>T, NM_001174084.1:c.1654C>T, NM_001174085.2:c.1378C>T, NM_001174085.1:c.1378C>T, NM_001308382.2:c.829C>T, NM_001308382.1:c.829C>T, NR_033406.1:n.1685C>T, XM_017016091.3:c.1147C>T, XM_017016091.2:c.1147C>T, XM_017016091.1:c.1147C>T, XM_011539662.3:c.892C>T, XM_011539662.2:c.892C>T, XM_011539662.1:c.892C>T, XM_006717775.3:c.871C>T, XM_006717775.2:c.871C>T, XM_006717775.1:c.871C>T, XM_011539664.3:c.850C>T, XM_011539664.2:c.850C>T, XM_011539664.1:c.850C>T, XM_006717777.3:c.829C>T, XM_006717777.2:c.829C>T, XM_006717777.1:c.829C>T, XM_017016088.3:c.*267C>T, XM_024447942.2:c.1411C>T, XM_024447942.1:c.1411C>T, XM_024447943.2:c.1390C>T, XM_024447943.1:c.1390C>T, XM_011539657.2:c.1411C>T, XM_011539657.1:c.1411C>T, XM_011539650.2:c.1675C>T, XM_011539650.1:c.1675C>T, XM_011539651.2:c.1654C>T, XM_011539651.1:c.1654C>T, XM_011539654.2:c.1399C>T, XM_011539654.1:c.1399C>T, XM_011539655.2:c.1378C>T, XM_011539655.1:c.1378C>T, XM_017016084.2:c.1372C>T, XM_017016084.1:c.1372C>T, XM_011539656.2:c.1357C>T, XM_011539656.1:c.1357C>T, XM_017016085.2:c.1351C>T, XM_017016085.1:c.1351C>T, XM_017016090.2:c.*267C>T, XM_017016090.1:c.*267C>T, XM_024447945.2:c.730C>T, XM_024447945.1:c.940C>T, XM_047425089.1:c.1168C>T, XM_047425091.1:c.1114C>T, XM_047425093.1:c.1093C>T, XM_047425095.1:c.1072C>T, XM_047425087.1:c.1411C>T, XM_047425088.1:c.1390C>T, XM_047425086.1:c.1336C>T, XM_047425090.1:c.1135C>T, XM_047425092.1:c.1108C>T, XM_047425094.1:c.1087C>T, XM_047425098.1:c.844C>T, NP_037406.1:p.Pro552Ser, NP_001167555.1:p.Pro552Ser, NP_001167556.1:p.Pro460Ser, NP_001295311.1:p.Pro277Ser, XP_016871580.1:p.Pro383Ser, XP_011537964.1:p.Pro298Ser, XP_006717838.1:p.Pro291Ser, XP_011537966.1:p.Pro284Ser, XP_006717840.1:p.Pro277Ser, XP_024303710.1:p.Pro471Ser, XP_024303711.1:p.Pro464Ser, XP_011537959.1:p.Pro471Ser, XP_011537952.1:p.Pro559Ser, XP_011537953.1:p.Pro552Ser, XP_011537956.1:p.Pro467Ser, XP_011537957.1:p.Pro460Ser, XP_016871573.1:p.Pro458Ser, XP_011537958.1:p.Pro453Ser, XP_016871574.1:p.Pro451Ser, XP_024303713.2:p.Pro244Ser, XP_047281045.1:p.Pro390Ser, XP_047281047.1:p.Pro372Ser, XP_047281049.1:p.Pro365Ser, XP_047281051.1:p.Pro358Ser, XP_047281043.1:p.Pro471Ser, XP_047281044.1:p.Pro464Ser, XP_047281042.1:p.Pro446Ser, XP_047281046.1:p.Pro379Ser, XP_047281048.1:p.Pro370Ser, XP_047281050.1:p.Pro363Ser, XP_047281054.1:p.Pro282Ser

                                    18.

                                    rs1444377424 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      10:101580382 (GRCh38)
                                      10:103340139 (GRCh37)
                                      Canonical SPDI:
                                      NC_000010.11:101580381:A:G
                                      Gene:
                                      POLL (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000010.11:g.101580382A>G, NC_000010.10:g.103340139A>G, NG_017063.1:g.12889T>C, NM_013274.4:c.1229T>C, NM_013274.3:c.1229T>C, NM_001174084.2:c.1229T>C, NM_001174084.1:c.1229T>C, NM_001174085.2:c.953T>C, NM_001174085.1:c.953T>C, NM_001308382.2:c.404T>C, NM_001308382.1:c.404T>C, NR_033406.1:n.1260T>C, XM_017016091.3:c.722T>C, XM_017016091.2:c.722T>C, XM_017016091.1:c.722T>C, XM_011539662.3:c.446T>C, XM_011539662.2:c.446T>C, XM_011539662.1:c.446T>C, XM_006717775.3:c.446T>C, XM_006717775.2:c.446T>C, XM_006717775.1:c.446T>C, XM_011539664.3:c.404T>C, XM_011539664.2:c.404T>C, XM_011539664.1:c.404T>C, XM_006717777.3:c.404T>C, XM_006717777.2:c.404T>C, XM_006717777.1:c.404T>C, XM_017016088.3:c.922T>C, XM_017016088.2:c.922T>C, XM_017016088.1:c.922T>C, XM_024447942.2:c.965T>C, XM_024447942.1:c.965T>C, XM_024447943.2:c.965T>C, XM_024447943.1:c.965T>C, XM_011539657.2:c.965T>C, XM_011539657.1:c.965T>C, XM_011539650.2:c.1229T>C, XM_011539650.1:c.1229T>C, XM_011539651.2:c.1229T>C, XM_011539651.1:c.1229T>C, XM_011539654.2:c.953T>C, XM_011539654.1:c.953T>C, XM_011539655.2:c.953T>C, XM_011539655.1:c.953T>C, XM_017016084.2:c.926T>C, XM_017016084.1:c.926T>C, XM_011539656.2:c.911T>C, XM_011539656.1:c.911T>C, XM_017016085.2:c.926T>C, XM_017016085.1:c.926T>C, XM_017016090.2:c.922T>C, XM_017016090.1:c.922T>C, XM_024447945.2:c.305T>C, XM_024447945.1:c.515T>C, XM_047425089.1:c.722T>C, XM_047425091.1:c.689T>C, XM_047425093.1:c.647T>C, XM_047425095.1:c.647T>C, XM_047425087.1:c.965T>C, XM_047425088.1:c.965T>C, XM_047425086.1:c.911T>C, XM_047425090.1:c.689T>C, XM_047425092.1:c.662T>C, XM_047425094.1:c.662T>C, XM_047425098.1:c.419T>C, NP_037406.1:p.Leu410Pro, NP_001167555.1:p.Leu410Pro, NP_001167556.1:p.Leu318Pro, NP_001295311.1:p.Leu135Pro, XP_016871580.1:p.Leu241Pro, XP_011537964.1:p.Leu149Pro, XP_006717838.1:p.Leu149Pro, XP_011537966.1:p.Leu135Pro, XP_006717840.1:p.Leu135Pro, XP_016871577.1:p.Cys308Arg, XP_024303710.1:p.Leu322Pro, XP_024303711.1:p.Leu322Pro, XP_011537959.1:p.Leu322Pro, XP_011537952.1:p.Leu410Pro, XP_011537953.1:p.Leu410Pro, XP_011537956.1:p.Leu318Pro, XP_011537957.1:p.Leu318Pro, XP_016871573.1:p.Leu309Pro, XP_011537958.1:p.Leu304Pro, XP_016871574.1:p.Leu309Pro, XP_016871579.1:p.Cys308Arg, XP_024303713.2:p.Leu102Pro, XP_047281045.1:p.Leu241Pro, XP_047281047.1:p.Leu230Pro, XP_047281049.1:p.Leu216Pro, XP_047281051.1:p.Leu216Pro, XP_047281043.1:p.Leu322Pro, XP_047281044.1:p.Leu322Pro, XP_047281042.1:p.Leu304Pro, XP_047281046.1:p.Leu230Pro, XP_047281048.1:p.Leu221Pro, XP_047281050.1:p.Leu221Pro, XP_047281054.1:p.Leu140Pro

                                      19.

                                      rs1431813972 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        10:101587265 (GRCh38)
                                        10:103347022 (GRCh37)
                                        Canonical SPDI:
                                        NC_000010.11:101587264:T:C
                                        Gene:
                                        DPCD (Varview), POLL (Varview)
                                        Functional Consequence:
                                        2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        C=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000010.11:g.101587265T>C, NC_000010.10:g.103347022T>C, NG_051289.1:g.3978T>C, NG_017063.1:g.6006A>G, NM_013274.4:c.96A>G, NM_013274.3:c.96A>G, NM_001174084.2:c.96A>G, NM_001174084.1:c.96A>G, NM_001174085.2:c.96A>G, NM_001174085.1:c.96A>G, NM_001308382.2:c.47A>G, NM_001308382.1:c.47A>G, XM_017016091.3:c.47A>G, XM_017016091.2:c.47A>G, XM_017016091.1:c.47A>G, XM_011539662.3:c.47A>G, XM_011539662.2:c.47A>G, XM_011539662.1:c.47A>G, XM_006717775.3:c.47A>G, XM_006717775.2:c.47A>G, XM_006717775.1:c.47A>G, XM_011539664.3:c.47A>G, XM_011539664.2:c.47A>G, XM_011539664.1:c.47A>G, XM_006717777.3:c.47A>G, XM_006717777.2:c.47A>G, XM_006717777.1:c.47A>G, XM_017016088.3:c.96A>G, XM_017016088.2:c.96A>G, XM_017016088.1:c.96A>G, XM_011539650.2:c.96A>G, XM_011539650.1:c.96A>G, XM_011539651.2:c.96A>G, XM_011539651.1:c.96A>G, XM_011539654.2:c.96A>G, XM_011539654.1:c.96A>G, XM_011539655.2:c.96A>G, XM_011539655.1:c.96A>G, XM_017016084.2:c.96A>G, XM_017016084.1:c.96A>G, XM_011539656.2:c.96A>G, XM_011539656.1:c.96A>G, XM_017016085.2:c.96A>G, XM_017016085.1:c.96A>G, XM_017016090.2:c.96A>G, XM_017016090.1:c.96A>G, XM_047425089.1:c.47A>G, XM_047425086.1:c.96A>G, XM_047425098.1:c.47A>G, XM_047425096.1:c.96A>G, XM_047425097.1:c.96A>G, NP_001295311.1:p.Lys16Arg, XP_016871580.1:p.Lys16Arg, XP_011537964.1:p.Lys16Arg, XP_006717838.1:p.Lys16Arg, XP_011537966.1:p.Lys16Arg, XP_006717840.1:p.Lys16Arg, XP_047281045.1:p.Lys16Arg, XP_047281054.1:p.Lys16Arg

                                        20.

                                        rs1429712164 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          T>A,C [Show Flanks]
                                          Chromosome:
                                          10:101579766 (GRCh38)
                                          10:103339523 (GRCh37)
                                          Canonical SPDI:
                                          NC_000010.11:101579765:T:A,NC_000010.11:101579765:T:C
                                          Gene:
                                          POLL (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)
                                          HGVS:
                                          NC_000010.11:g.101579766T>A, NC_000010.11:g.101579766T>C, NC_000010.10:g.103339523T>A, NC_000010.10:g.103339523T>C, NG_017063.1:g.13505A>T, NG_017063.1:g.13505A>G, NM_013274.4:c.1415A>T, NM_013274.4:c.1415A>G, NM_013274.3:c.1415A>T, NM_013274.3:c.1415A>G, NM_001174084.2:c.1415A>T, NM_001174084.2:c.1415A>G, NM_001174084.1:c.1415A>T, NM_001174084.1:c.1415A>G, NM_001174085.2:c.1139A>T, NM_001174085.2:c.1139A>G, NM_001174085.1:c.1139A>T, NM_001174085.1:c.1139A>G, NM_001308382.2:c.590A>T, NM_001308382.2:c.590A>G, NM_001308382.1:c.590A>T, NM_001308382.1:c.590A>G, NR_033406.1:n.1446A>T, NR_033406.1:n.1446A>G, XM_017016091.3:c.908A>T, XM_017016091.3:c.908A>G, XM_017016091.2:c.908A>T, XM_017016091.2:c.908A>G, XM_017016091.1:c.908A>T, XM_017016091.1:c.908A>G, XM_011539662.3:c.653A>T, XM_011539662.3:c.653A>G, XM_011539662.2:c.653A>T, XM_011539662.2:c.653A>G, XM_011539662.1:c.653A>T, XM_011539662.1:c.653A>G, XM_006717775.3:c.632A>T, XM_006717775.3:c.632A>G, XM_006717775.2:c.632A>T, XM_006717775.2:c.632A>G, XM_006717775.1:c.632A>T, XM_006717775.1:c.632A>G, XM_011539664.3:c.611A>T, XM_011539664.3:c.611A>G, XM_011539664.2:c.611A>T, XM_011539664.2:c.611A>G, XM_011539664.1:c.611A>T, XM_011539664.1:c.611A>G, XM_006717777.3:c.590A>T, XM_006717777.3:c.590A>G, XM_006717777.2:c.590A>T, XM_006717777.2:c.590A>G, XM_006717777.1:c.590A>T, XM_006717777.1:c.590A>G, XM_017016088.3:c.*28A>T, XM_017016088.3:c.*28A>G, XM_017016088.2:c.*28A>T, XM_017016088.2:c.*28A>G, XM_017016088.1:c.*28A>T, XM_017016088.1:c.*28A>G, XM_024447942.2:c.1172A>T, XM_024447942.2:c.1172A>G, XM_024447942.1:c.1172A>T, XM_024447942.1:c.1172A>G, XM_024447943.2:c.1151A>T, XM_024447943.2:c.1151A>G, XM_024447943.1:c.1151A>T, XM_024447943.1:c.1151A>G, XM_011539657.2:c.1172A>T, XM_011539657.2:c.1172A>G, XM_011539657.1:c.1172A>T, XM_011539657.1:c.1172A>G, XM_011539650.2:c.1436A>T, XM_011539650.2:c.1436A>G, XM_011539650.1:c.1436A>T, XM_011539650.1:c.1436A>G, XM_011539651.2:c.1415A>T, XM_011539651.2:c.1415A>G, XM_011539651.1:c.1415A>T, XM_011539651.1:c.1415A>G, XM_011539654.2:c.1160A>T, XM_011539654.2:c.1160A>G, XM_011539654.1:c.1160A>T, XM_011539654.1:c.1160A>G, XM_011539655.2:c.1139A>T, XM_011539655.2:c.1139A>G, XM_011539655.1:c.1139A>T, XM_011539655.1:c.1139A>G, XM_017016084.2:c.1133A>T, XM_017016084.2:c.1133A>G, XM_017016084.1:c.1133A>T, XM_017016084.1:c.1133A>G, XM_011539656.2:c.1118A>T, XM_011539656.2:c.1118A>G, XM_011539656.1:c.1118A>T, XM_011539656.1:c.1118A>G, XM_017016085.2:c.1112A>T, XM_017016085.2:c.1112A>G, XM_017016085.1:c.1112A>T, XM_017016085.1:c.1112A>G, XM_017016090.2:c.*28A>T, XM_017016090.2:c.*28A>G, XM_017016090.1:c.*28A>T, XM_017016090.1:c.*28A>G, XM_024447945.2:c.491A>T, XM_024447945.2:c.491A>G, XM_024447945.1:c.701A>T, XM_024447945.1:c.701A>G, XM_047425089.1:c.929A>T, XM_047425089.1:c.929A>G, XM_047425091.1:c.875A>T, XM_047425091.1:c.875A>G, XM_047425093.1:c.854A>T, XM_047425093.1:c.854A>G, XM_047425095.1:c.833A>T, XM_047425095.1:c.833A>G, XM_047425087.1:c.1172A>T, XM_047425087.1:c.1172A>G, XM_047425088.1:c.1151A>T, XM_047425088.1:c.1151A>G, XM_047425086.1:c.1097A>T, XM_047425086.1:c.1097A>G, XM_047425090.1:c.896A>T, XM_047425090.1:c.896A>G, XM_047425092.1:c.869A>T, XM_047425092.1:c.869A>G, XM_047425094.1:c.848A>T, XM_047425094.1:c.848A>G, XM_047425098.1:c.605A>T, XM_047425098.1:c.605A>G, NP_037406.1:p.Lys472Met, NP_037406.1:p.Lys472Arg, NP_001167555.1:p.Lys472Met, NP_001167555.1:p.Lys472Arg, NP_001167556.1:p.Lys380Met, NP_001167556.1:p.Lys380Arg, NP_001295311.1:p.Lys197Met, NP_001295311.1:p.Lys197Arg, XP_016871580.1:p.Lys303Met, XP_016871580.1:p.Lys303Arg, XP_011537964.1:p.Lys218Met, XP_011537964.1:p.Lys218Arg, XP_006717838.1:p.Lys211Met, XP_006717838.1:p.Lys211Arg, XP_011537966.1:p.Lys204Met, XP_011537966.1:p.Lys204Arg, XP_006717840.1:p.Lys197Met, XP_006717840.1:p.Lys197Arg, XP_024303710.1:p.Lys391Met, XP_024303710.1:p.Lys391Arg, XP_024303711.1:p.Lys384Met, XP_024303711.1:p.Lys384Arg, XP_011537959.1:p.Lys391Met, XP_011537959.1:p.Lys391Arg, XP_011537952.1:p.Lys479Met, XP_011537952.1:p.Lys479Arg, XP_011537953.1:p.Lys472Met, XP_011537953.1:p.Lys472Arg, XP_011537956.1:p.Lys387Met, XP_011537956.1:p.Lys387Arg, XP_011537957.1:p.Lys380Met, XP_011537957.1:p.Lys380Arg, XP_016871573.1:p.Lys378Met, XP_016871573.1:p.Lys378Arg, XP_011537958.1:p.Lys373Met, XP_011537958.1:p.Lys373Arg, XP_016871574.1:p.Lys371Met, XP_016871574.1:p.Lys371Arg, XP_024303713.2:p.Lys164Met, XP_024303713.2:p.Lys164Arg, XP_047281045.1:p.Lys310Met, XP_047281045.1:p.Lys310Arg, XP_047281047.1:p.Lys292Met, XP_047281047.1:p.Lys292Arg, XP_047281049.1:p.Lys285Met, XP_047281049.1:p.Lys285Arg, XP_047281051.1:p.Lys278Met, XP_047281051.1:p.Lys278Arg, XP_047281043.1:p.Lys391Met, XP_047281043.1:p.Lys391Arg, XP_047281044.1:p.Lys384Met, XP_047281044.1:p.Lys384Arg, XP_047281042.1:p.Lys366Met, XP_047281042.1:p.Lys366Arg, XP_047281046.1:p.Lys299Met, XP_047281046.1:p.Lys299Arg, XP_047281048.1:p.Lys290Met, XP_047281048.1:p.Lys290Arg, XP_047281050.1:p.Lys283Met, XP_047281050.1:p.Lys283Arg, XP_047281054.1:p.Lys202Met, XP_047281054.1:p.Lys202Arg

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