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Items: 1 to 20 of 825

1.

rs1491416469 [Homo sapiens]
    Variant type:
    DELINS
    Alleles:
    ->A [Show Flanks]
    Chromosome:
    14:105228839 (GRCh38)
    14:105695177 (GRCh37)
    Canonical SPDI:
    NC_000014.9:105228839:A:AA
    Gene:
    BRF1 (Varview)
    Functional Consequence:
    genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,stop_gained
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000014.9:g.105228840dup, NC_000014.8:g.105695177dup, NG_029489.1:g.91738dup, NM_001519.4:c.768dup, NM_001519.3:c.768dup, NM_145685.3:c.156dup, NM_145685.2:c.156dup, NM_001242788.2:c.687dup, NM_001242788.1:c.687dup, NM_001242786.2:c.423dup, NM_001242786.1:c.423dup, NM_001242787.2:c.423dup, NM_001242787.1:c.423dup, NM_001242789.2:c.54dup, NM_001242789.1:c.54dup, XM_005267561.5:c.768dup, XM_005267561.4:c.768dup, XM_005267561.3:c.768dup, XM_005267561.2:c.768dup, XM_005267561.1:c.768dup, XM_005267563.5:c.156dup, XM_005267563.4:c.156dup, XM_005267563.3:c.156dup, XM_005267563.2:c.156dup, XM_005267563.1:c.156dup, XM_011536672.4:c.768dup, XM_011536672.3:c.768dup, XM_011536672.2:c.768dup, XM_011536672.1:c.768dup, XM_011536673.3:c.618dup, XM_011536673.2:c.618dup, XM_011536673.1:c.618dup, XM_024449553.2:c.54dup, XM_024449553.1:c.54dup, XM_047431306.1:c.255dup, XM_047431307.1:c.255dup, XM_047431308.1:c.105dup, XM_047431310.1:c.105dup, XM_047431302.1:c.618dup, XM_047431304.1:c.273dup, XM_047431305.1:c.273dup, XM_047431303.1:c.276dup, NM_145696.1:c.156dup, NP_001510.2:p.Glu257Ter, NP_663718.1:p.Glu53Ter, NP_001229717.1:p.Glu230Ter, NP_001229715.1:p.Glu142Ter, NP_001229716.1:p.Glu142Ter, NP_001229718.1:p.Glu19Ter, XP_005267618.1:p.Glu257Ter, XP_005267620.1:p.Glu53Ter, XP_011534974.1:p.Glu257Ter, XP_011534975.1:p.Glu207Ter, XP_024305321.1:p.Glu19Ter, XP_047287262.1:p.Glu86Ter, XP_047287263.1:p.Glu86Ter, XP_047287264.1:p.Glu36Ter, XP_047287266.1:p.Glu36Ter, XP_047287258.1:p.Glu207Ter, XP_047287260.1:p.Glu92Ter, XP_047287261.1:p.Glu92Ter, XP_047287259.1:p.Glu93Ter

    2.

    rs1490964209 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      14:105300459 (GRCh38)
      14:105766796 (GRCh37)
      Canonical SPDI:
      NC_000014.9:105300458:G:A
      Gene:
      BRF1 (Varview), PACS2 (Varview)
      Functional Consequence:
      2KB_upstream_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
      Validated:
      by frequency
      MAF:
      A=0.000015/2 (GnomAD_exomes)
      HGVS:

      3.

      rs1489457427 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,C [Show Flanks]
        Chromosome:
        14:105217767 (GRCh38)
        14:105684104 (GRCh37)
        Canonical SPDI:
        NC_000014.9:105217766:G:A,NC_000014.9:105217766:G:C
        Gene:
        BRF1 (Varview)
        Functional Consequence:
        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,stop_gained
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        C=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000014.9:g.105217767G>A, NC_000014.9:g.105217767G>C, NC_000014.8:g.105684104G>A, NC_000014.8:g.105684104G>C, NG_029489.1:g.102811C>T, NG_029489.1:g.102811C>G, NM_001519.4:c.1549C>T, NM_001519.4:c.1549C>G, NM_001519.3:c.1549C>T, NM_001519.3:c.1549C>G, NM_145685.3:c.937C>T, NM_145685.3:c.937C>G, NM_145685.2:c.937C>T, NM_145685.2:c.937C>G, NM_001242788.2:c.1468C>T, NM_001242788.2:c.1468C>G, NM_001242788.1:c.1468C>T, NM_001242788.1:c.1468C>G, NM_001242786.2:c.1270C>T, NM_001242786.2:c.1270C>G, NM_001242786.1:c.1270C>T, NM_001242786.1:c.1270C>G, NM_001242787.2:c.1204C>T, NM_001242787.2:c.1204C>G, NM_001242787.1:c.1204C>T, NM_001242787.1:c.1204C>G, NM_001242789.2:c.835C>T, NM_001242789.2:c.835C>G, NM_001242789.1:c.835C>T, NM_001242789.1:c.835C>G, XM_005267561.5:c.1546C>T, XM_005267561.5:c.1546C>G, XM_005267561.4:c.1546C>T, XM_005267561.4:c.1546C>G, XM_005267561.3:c.1546C>T, XM_005267561.3:c.1546C>G, XM_005267561.2:c.1546C>T, XM_005267561.2:c.1546C>G, XM_005267561.1:c.1546C>T, XM_005267561.1:c.1546C>G, XM_005267563.5:c.937C>T, XM_005267563.5:c.937C>G, XM_005267563.4:c.937C>T, XM_005267563.4:c.937C>G, XM_005267563.3:c.937C>T, XM_005267563.3:c.937C>G, XM_005267563.2:c.937C>T, XM_005267563.2:c.937C>G, XM_005267563.1:c.937C>T, XM_005267563.1:c.937C>G, XM_011536672.4:c.1549C>T, XM_011536672.4:c.1549C>G, XM_011536672.3:c.1549C>T, XM_011536672.3:c.1549C>G, XM_011536672.2:c.1549C>T, XM_011536672.2:c.1549C>G, XM_011536672.1:c.1549C>T, XM_011536672.1:c.1549C>G, XM_011536673.3:c.1399C>T, XM_011536673.3:c.1399C>G, XM_011536673.2:c.1399C>T, XM_011536673.2:c.1399C>G, XM_011536673.1:c.1399C>T, XM_011536673.1:c.1399C>G, XM_024449553.2:c.835C>T, XM_024449553.2:c.835C>G, XM_024449553.1:c.835C>T, XM_024449553.1:c.835C>G, XM_047431306.1:c.1036C>T, XM_047431306.1:c.1036C>G, XM_047431307.1:c.1033C>T, XM_047431307.1:c.1033C>G, XM_047431308.1:c.886C>T, XM_047431308.1:c.886C>G, XM_047431310.1:c.883C>T, XM_047431310.1:c.883C>G, XM_047431302.1:c.1396C>T, XM_047431302.1:c.1396C>G, XM_047431304.1:c.1054C>T, XM_047431304.1:c.1054C>G, XM_047431305.1:c.1051C>T, XM_047431305.1:c.1051C>G, XM_047431303.1:c.1057C>T, XM_047431303.1:c.1057C>G, XM_047431311.1:c.709C>T, XM_047431311.1:c.709C>G, NP_001510.2:p.Gln517Ter, NP_001510.2:p.Gln517Glu, NP_663718.1:p.Gln313Ter, NP_663718.1:p.Gln313Glu, NP_001229717.1:p.Gln490Ter, NP_001229717.1:p.Gln490Glu, NP_001229715.1:p.Gln424Ter, NP_001229715.1:p.Gln424Glu, NP_001229716.1:p.Gln402Ter, NP_001229716.1:p.Gln402Glu, NP_001229718.1:p.Gln279Ter, NP_001229718.1:p.Gln279Glu, XP_005267618.1:p.Gln516Ter, XP_005267618.1:p.Gln516Glu, XP_005267620.1:p.Gln313Ter, XP_005267620.1:p.Gln313Glu, XP_011534974.1:p.Gln517Ter, XP_011534974.1:p.Gln517Glu, XP_011534975.1:p.Gln467Ter, XP_011534975.1:p.Gln467Glu, XP_024305321.1:p.Gln279Ter, XP_024305321.1:p.Gln279Glu, XP_047287262.1:p.Gln346Ter, XP_047287262.1:p.Gln346Glu, XP_047287263.1:p.Gln345Ter, XP_047287263.1:p.Gln345Glu, XP_047287264.1:p.Gln296Ter, XP_047287264.1:p.Gln296Glu, XP_047287266.1:p.Gln295Ter, XP_047287266.1:p.Gln295Glu, XP_047287258.1:p.Gln466Ter, XP_047287258.1:p.Gln466Glu, XP_047287260.1:p.Gln352Ter, XP_047287260.1:p.Gln352Glu, XP_047287261.1:p.Gln351Ter, XP_047287261.1:p.Gln351Glu, XP_047287259.1:p.Gln353Ter, XP_047287259.1:p.Gln353Glu, XP_047287267.1:p.Gln237Ter, XP_047287267.1:p.Gln237Glu

        4.

        rs1488951399 [Homo sapiens]
          Variant type:
          DELINS
          Alleles:
          CT>- [Show Flanks]
          Chromosome:
          14:105252536 (GRCh38)
          14:105718873 (GRCh37)
          Canonical SPDI:
          NC_000014.9:105252531:CTCTCT:CTCT
          Gene:
          BRF1 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant,upstream_transcript_variant
          Validated:
          by frequency
          MAF:
          -=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000014.9:g.105252532CT[2], NC_000014.8:g.105718869CT[2], NG_029489.1:g.68041AG[2], NM_001519.4:c.518_519del, NM_001519.3:c.518_519del, NM_001242788.2:c.437_438del, NM_001242788.1:c.437_438del, NM_001242786.2:c.173_174del, NM_001242786.1:c.173_174del, NM_001242787.2:c.173_174del, NM_001242787.1:c.173_174del, XM_005267561.5:c.518_519del, XM_005267561.4:c.518_519del, XM_005267561.3:c.518_519del, XM_005267561.2:c.518_519del, XM_005267561.1:c.518_519del, XM_011536672.4:c.518_519del, XM_011536672.3:c.518_519del, XM_011536672.2:c.518_519del, XM_011536672.1:c.518_519del, XM_011536673.3:c.518_519del, XM_011536673.2:c.518_519del, XM_011536673.1:c.518_519del, XM_047431302.1:c.518_519del, XM_047431304.1:c.173_174del, XM_047431305.1:c.173_174del, NP_001510.2:p.Glu173fs, NP_001229717.1:p.Glu146fs, NP_001229715.1:p.Glu58fs, NP_001229716.1:p.Glu58fs, XP_005267618.1:p.Glu173fs, XP_011534974.1:p.Glu173fs, XP_011534975.1:p.Glu173fs, XP_047287258.1:p.Glu173fs, XP_047287260.1:p.Glu58fs, XP_047287261.1:p.Glu58fs

          5.

          rs1486861999 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>G [Show Flanks]
            Chromosome:
            14:105226132 (GRCh38)
            14:105692469 (GRCh37)
            Canonical SPDI:
            NC_000014.9:105226131:C:G
            Gene:
            BRF1 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000014.9:g.105226132C>G, NC_000014.8:g.105692469C>G, NG_029489.1:g.94446G>C, NM_001519.4:c.985G>C, NM_001519.3:c.985G>C, NM_145685.3:c.373G>C, NM_145685.2:c.373G>C, NM_001242788.2:c.904G>C, NM_001242788.1:c.904G>C, NM_001242786.2:c.640G>C, NM_001242786.1:c.640G>C, NM_001242787.2:c.640G>C, NM_001242787.1:c.640G>C, NM_001242789.2:c.271G>C, NM_001242789.1:c.271G>C, XM_005267561.5:c.985G>C, XM_005267561.4:c.985G>C, XM_005267561.3:c.985G>C, XM_005267561.2:c.985G>C, XM_005267561.1:c.985G>C, XM_005267563.5:c.373G>C, XM_005267563.4:c.373G>C, XM_005267563.3:c.373G>C, XM_005267563.2:c.373G>C, XM_005267563.1:c.373G>C, XM_011536672.4:c.985G>C, XM_011536672.3:c.985G>C, XM_011536672.2:c.985G>C, XM_011536672.1:c.985G>C, XM_011536673.3:c.835G>C, XM_011536673.2:c.835G>C, XM_011536673.1:c.835G>C, XM_024449553.2:c.271G>C, XM_024449553.1:c.271G>C, XM_047431306.1:c.472G>C, XM_047431307.1:c.472G>C, XM_047431308.1:c.322G>C, XM_047431310.1:c.322G>C, XM_047431302.1:c.835G>C, XM_047431304.1:c.490G>C, XM_047431305.1:c.490G>C, XM_047431303.1:c.493G>C, XM_047431311.1:c.145G>C, NP_001510.2:p.Glu329Gln, NP_663718.1:p.Glu125Gln, NP_001229717.1:p.Glu302Gln, NP_001229715.1:p.Glu214Gln, NP_001229716.1:p.Glu214Gln, NP_001229718.1:p.Glu91Gln, XP_005267618.1:p.Glu329Gln, XP_005267620.1:p.Glu125Gln, XP_011534974.1:p.Glu329Gln, XP_011534975.1:p.Glu279Gln, XP_024305321.1:p.Glu91Gln, XP_047287262.1:p.Glu158Gln, XP_047287263.1:p.Glu158Gln, XP_047287264.1:p.Glu108Gln, XP_047287266.1:p.Glu108Gln, XP_047287258.1:p.Glu279Gln, XP_047287260.1:p.Glu164Gln, XP_047287261.1:p.Glu164Gln, XP_047287259.1:p.Glu165Gln, XP_047287267.1:p.Glu49Gln

            6.

            rs1485144260 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              14:105211197 (GRCh38)
              14:105677534 (GRCh37)
              Canonical SPDI:
              NC_000014.9:105211196:C:T
              Gene:
              BRF1 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000014.9:g.105211197C>T, NC_000014.8:g.105677534C>T, NG_029489.1:g.109381G>A, NM_001519.4:c.1921G>A, NM_001519.3:c.1921G>A, NM_145685.3:c.1309G>A, NM_145685.2:c.1309G>A, NM_001242788.2:c.1840G>A, NM_001242788.1:c.1840G>A, NM_001242786.2:c.1642G>A, NM_001242786.1:c.1642G>A, NM_001242787.2:c.1576G>A, NM_001242787.1:c.1576G>A, NM_001242789.2:c.1207G>A, NM_001242789.1:c.1207G>A, XM_005267561.5:c.1918G>A, XM_005267561.4:c.1918G>A, XM_005267561.3:c.1918G>A, XM_005267561.2:c.1918G>A, XM_005267561.1:c.1918G>A, XM_005267563.5:c.1309G>A, XM_005267563.4:c.1309G>A, XM_005267563.3:c.1309G>A, XM_005267563.2:c.1309G>A, XM_005267563.1:c.1309G>A, XM_011536673.3:c.1771G>A, XM_011536673.2:c.1771G>A, XM_011536673.1:c.1771G>A, XM_024449553.2:c.1207G>A, XM_024449553.1:c.1207G>A, XM_047431306.1:c.1408G>A, XM_047431307.1:c.1405G>A, XM_047431308.1:c.1258G>A, XM_047431310.1:c.1255G>A, XM_047431302.1:c.1768G>A, XM_047431304.1:c.1426G>A, XM_047431305.1:c.1423G>A, XM_047431303.1:c.1429G>A, XM_047431311.1:c.1081G>A, NP_001510.2:p.Glu641Lys, NP_663718.1:p.Glu437Lys, NP_001229717.1:p.Glu614Lys, NP_001229715.1:p.Glu548Lys, NP_001229716.1:p.Glu526Lys, NP_001229718.1:p.Glu403Lys, XP_005267618.1:p.Glu640Lys, XP_005267620.1:p.Glu437Lys, XP_011534975.1:p.Glu591Lys, XP_024305321.1:p.Glu403Lys, XP_047287262.1:p.Glu470Lys, XP_047287263.1:p.Glu469Lys, XP_047287264.1:p.Glu420Lys, XP_047287266.1:p.Glu419Lys, XP_047287258.1:p.Glu590Lys, XP_047287260.1:p.Glu476Lys, XP_047287261.1:p.Glu475Lys, XP_047287259.1:p.Glu477Lys, XP_047287267.1:p.Glu361Lys

              7.

              rs1481925834 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                14:105228820 (GRCh38)
                14:105695157 (GRCh37)
                Canonical SPDI:
                NC_000014.9:105228819:C:T
                Gene:
                BRF1 (Varview)
                Functional Consequence:
                genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:
                NC_000014.9:g.105228820C>T, NC_000014.8:g.105695157C>T, NG_029489.1:g.91758G>A, NM_001519.4:c.788G>A, NM_001519.3:c.788G>A, NM_145685.3:c.176G>A, NM_145685.2:c.176G>A, NM_001242788.2:c.707G>A, NM_001242788.1:c.707G>A, NM_001242786.2:c.443G>A, NM_001242786.1:c.443G>A, NM_001242787.2:c.443G>A, NM_001242787.1:c.443G>A, NM_001242789.2:c.74G>A, NM_001242789.1:c.74G>A, XM_005267561.5:c.788G>A, XM_005267561.4:c.788G>A, XM_005267561.3:c.788G>A, XM_005267561.2:c.788G>A, XM_005267561.1:c.788G>A, XM_005267563.5:c.176G>A, XM_005267563.4:c.176G>A, XM_005267563.3:c.176G>A, XM_005267563.2:c.176G>A, XM_005267563.1:c.176G>A, XM_011536672.4:c.788G>A, XM_011536672.3:c.788G>A, XM_011536672.2:c.788G>A, XM_011536672.1:c.788G>A, XM_011536673.3:c.638G>A, XM_011536673.2:c.638G>A, XM_011536673.1:c.638G>A, XM_024449553.2:c.74G>A, XM_024449553.1:c.74G>A, XM_047431306.1:c.275G>A, XM_047431307.1:c.275G>A, XM_047431308.1:c.125G>A, XM_047431310.1:c.125G>A, XM_047431302.1:c.638G>A, XM_047431304.1:c.293G>A, XM_047431305.1:c.293G>A, XM_047431303.1:c.296G>A, NM_145696.1:c.176G>A, NP_001510.2:p.Arg263Lys, NP_663718.1:p.Arg59Lys, NP_001229717.1:p.Arg236Lys, NP_001229715.1:p.Arg148Lys, NP_001229716.1:p.Arg148Lys, NP_001229718.1:p.Arg25Lys, XP_005267618.1:p.Arg263Lys, XP_005267620.1:p.Arg59Lys, XP_011534974.1:p.Arg263Lys, XP_011534975.1:p.Arg213Lys, XP_024305321.1:p.Arg25Lys, XP_047287262.1:p.Arg92Lys, XP_047287263.1:p.Arg92Lys, XP_047287264.1:p.Arg42Lys, XP_047287266.1:p.Arg42Lys, XP_047287258.1:p.Arg213Lys, XP_047287260.1:p.Arg98Lys, XP_047287261.1:p.Arg98Lys, XP_047287259.1:p.Arg99Lys

                8.

                rs1480722699 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>G [Show Flanks]
                  Chromosome:
                  14:105211139 (GRCh38)
                  14:105677476 (GRCh37)
                  Canonical SPDI:
                  NC_000014.9:105211138:T:G
                  Gene:
                  BRF1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000014.9:g.105211139T>G, NC_000014.8:g.105677476T>G, NG_029489.1:g.109439A>C, NM_001519.4:c.1979A>C, NM_001519.3:c.1979A>C, NM_145685.3:c.1367A>C, NM_145685.2:c.1367A>C, NM_001242788.2:c.1898A>C, NM_001242788.1:c.1898A>C, NM_001242786.2:c.1700A>C, NM_001242786.1:c.1700A>C, NM_001242787.2:c.1634A>C, NM_001242787.1:c.1634A>C, NM_001242789.2:c.1265A>C, NM_001242789.1:c.1265A>C, XM_005267561.5:c.1976A>C, XM_005267561.4:c.1976A>C, XM_005267561.3:c.1976A>C, XM_005267561.2:c.1976A>C, XM_005267561.1:c.1976A>C, XM_005267563.5:c.1367A>C, XM_005267563.4:c.1367A>C, XM_005267563.3:c.1367A>C, XM_005267563.2:c.1367A>C, XM_005267563.1:c.1367A>C, XM_011536673.3:c.1829A>C, XM_011536673.2:c.1829A>C, XM_011536673.1:c.1829A>C, XM_024449553.2:c.1265A>C, XM_024449553.1:c.1265A>C, XM_047431306.1:c.1466A>C, XM_047431307.1:c.1463A>C, XM_047431308.1:c.1316A>C, XM_047431310.1:c.1313A>C, XM_047431302.1:c.1826A>C, XM_047431304.1:c.1484A>C, XM_047431305.1:c.1481A>C, XM_047431303.1:c.1487A>C, XM_047431311.1:c.1139A>C, NP_001510.2:p.Gln660Pro, NP_663718.1:p.Gln456Pro, NP_001229717.1:p.Gln633Pro, NP_001229715.1:p.Gln567Pro, NP_001229716.1:p.Gln545Pro, NP_001229718.1:p.Gln422Pro, XP_005267618.1:p.Gln659Pro, XP_005267620.1:p.Gln456Pro, XP_011534975.1:p.Gln610Pro, XP_024305321.1:p.Gln422Pro, XP_047287262.1:p.Gln489Pro, XP_047287263.1:p.Gln488Pro, XP_047287264.1:p.Gln439Pro, XP_047287266.1:p.Gln438Pro, XP_047287258.1:p.Gln609Pro, XP_047287260.1:p.Gln495Pro, XP_047287261.1:p.Gln494Pro, XP_047287259.1:p.Gln496Pro, XP_047287267.1:p.Gln380Pro

                  9.

                  rs1480161508 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    14:105241329 (GRCh38)
                    14:105707666 (GRCh37)
                    Canonical SPDI:
                    NC_000014.9:105241328:G:C
                    Gene:
                    BRF1 (Varview)
                    Functional Consequence:
                    synonymous_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0.000031/1 (ALFA)
                    C=0.000004/1 (GnomAD_exomes)
                    C=0.000004/1 (TOPMED)
                    C=0.000007/1 (GnomAD)
                    HGVS:

                    10.

                    rs1479121773 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      14:105226135 (GRCh38)
                      14:105692472 (GRCh37)
                      Canonical SPDI:
                      NC_000014.9:105226134:T:C
                      Gene:
                      BRF1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000014.9:g.105226135T>C, NC_000014.8:g.105692472T>C, NG_029489.1:g.94443A>G, NM_001519.4:c.982A>G, NM_001519.3:c.982A>G, NM_145685.3:c.370A>G, NM_145685.2:c.370A>G, NM_001242788.2:c.901A>G, NM_001242788.1:c.901A>G, NM_001242786.2:c.637A>G, NM_001242786.1:c.637A>G, NM_001242787.2:c.637A>G, NM_001242787.1:c.637A>G, NM_001242789.2:c.268A>G, NM_001242789.1:c.268A>G, XM_005267561.5:c.982A>G, XM_005267561.4:c.982A>G, XM_005267561.3:c.982A>G, XM_005267561.2:c.982A>G, XM_005267561.1:c.982A>G, XM_005267563.5:c.370A>G, XM_005267563.4:c.370A>G, XM_005267563.3:c.370A>G, XM_005267563.2:c.370A>G, XM_005267563.1:c.370A>G, XM_011536672.4:c.982A>G, XM_011536672.3:c.982A>G, XM_011536672.2:c.982A>G, XM_011536672.1:c.982A>G, XM_011536673.3:c.832A>G, XM_011536673.2:c.832A>G, XM_011536673.1:c.832A>G, XM_024449553.2:c.268A>G, XM_024449553.1:c.268A>G, XM_047431306.1:c.469A>G, XM_047431307.1:c.469A>G, XM_047431308.1:c.319A>G, XM_047431310.1:c.319A>G, XM_047431302.1:c.832A>G, XM_047431304.1:c.487A>G, XM_047431305.1:c.487A>G, XM_047431303.1:c.490A>G, XM_047431311.1:c.142A>G, NP_001510.2:p.Ile328Val, NP_663718.1:p.Ile124Val, NP_001229717.1:p.Ile301Val, NP_001229715.1:p.Ile213Val, NP_001229716.1:p.Ile213Val, NP_001229718.1:p.Ile90Val, XP_005267618.1:p.Ile328Val, XP_005267620.1:p.Ile124Val, XP_011534974.1:p.Ile328Val, XP_011534975.1:p.Ile278Val, XP_024305321.1:p.Ile90Val, XP_047287262.1:p.Ile157Val, XP_047287263.1:p.Ile157Val, XP_047287264.1:p.Ile107Val, XP_047287266.1:p.Ile107Val, XP_047287258.1:p.Ile278Val, XP_047287260.1:p.Ile163Val, XP_047287261.1:p.Ile163Val, XP_047287259.1:p.Ile164Val, XP_047287267.1:p.Ile48Val

                      11.

                      rs1479039852 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>A [Show Flanks]
                        Chromosome:
                        14:105217710 (GRCh38)
                        14:105684047 (GRCh37)
                        Canonical SPDI:
                        NC_000014.9:105217709:T:A
                        Gene:
                        BRF1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000014.9:g.105217710T>A, NC_000014.8:g.105684047T>A, NG_029489.1:g.102868A>T, NM_001519.4:c.1606A>T, NM_001519.3:c.1606A>T, NM_145685.3:c.994A>T, NM_145685.2:c.994A>T, NM_001242788.2:c.1525A>T, NM_001242788.1:c.1525A>T, NM_001242786.2:c.1327A>T, NM_001242786.1:c.1327A>T, NM_001242787.2:c.1261A>T, NM_001242787.1:c.1261A>T, NM_001242789.2:c.892A>T, NM_001242789.1:c.892A>T, XM_005267561.5:c.1603A>T, XM_005267561.4:c.1603A>T, XM_005267561.3:c.1603A>T, XM_005267561.2:c.1603A>T, XM_005267561.1:c.1603A>T, XM_005267563.5:c.994A>T, XM_005267563.4:c.994A>T, XM_005267563.3:c.994A>T, XM_005267563.2:c.994A>T, XM_005267563.1:c.994A>T, XM_011536672.4:c.1606A>T, XM_011536672.3:c.1606A>T, XM_011536672.2:c.1606A>T, XM_011536672.1:c.1606A>T, XM_011536673.3:c.1456A>T, XM_011536673.2:c.1456A>T, XM_011536673.1:c.1456A>T, XM_024449553.2:c.892A>T, XM_024449553.1:c.892A>T, XM_047431306.1:c.1093A>T, XM_047431307.1:c.1090A>T, XM_047431308.1:c.943A>T, XM_047431310.1:c.940A>T, XM_047431302.1:c.1453A>T, XM_047431304.1:c.1111A>T, XM_047431305.1:c.1108A>T, XM_047431303.1:c.1114A>T, XM_047431311.1:c.766A>T, NP_001510.2:p.Ser536Cys, NP_663718.1:p.Ser332Cys, NP_001229717.1:p.Ser509Cys, NP_001229715.1:p.Ser443Cys, NP_001229716.1:p.Ser421Cys, NP_001229718.1:p.Ser298Cys, XP_005267618.1:p.Ser535Cys, XP_005267620.1:p.Ser332Cys, XP_011534974.1:p.Ser536Cys, XP_011534975.1:p.Ser486Cys, XP_024305321.1:p.Ser298Cys, XP_047287262.1:p.Ser365Cys, XP_047287263.1:p.Ser364Cys, XP_047287264.1:p.Ser315Cys, XP_047287266.1:p.Ser314Cys, XP_047287258.1:p.Ser485Cys, XP_047287260.1:p.Ser371Cys, XP_047287261.1:p.Ser370Cys, XP_047287259.1:p.Ser372Cys, XP_047287267.1:p.Ser256Cys

                        12.

                        rs1478219513 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          14:105219004 (GRCh38)
                          14:105685341 (GRCh37)
                          Canonical SPDI:
                          NC_000014.9:105219003:T:C
                          Gene:
                          BRF1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000043/1 (ALFA)
                          C=0.000008/2 (GnomAD_exomes)
                          C=0.000021/3 (GnomAD)
                          C=0.000023/6 (TOPMED)
                          HGVS:
                          NC_000014.9:g.105219004T>C, NC_000014.8:g.105685341T>C, NG_029489.1:g.101574A>G, NM_001519.4:c.1509A>G, NM_001519.3:c.1509A>G, NM_145685.3:c.897A>G, NM_145685.2:c.897A>G, NM_001242788.2:c.1428A>G, NM_001242788.1:c.1428A>G, NM_001242786.2:c.1230A>G, NM_001242786.1:c.1230A>G, NM_001242787.2:c.1164A>G, NM_001242787.1:c.1164A>G, NM_001242789.2:c.795A>G, NM_001242789.1:c.795A>G, XM_005267561.5:c.1506A>G, XM_005267561.4:c.1506A>G, XM_005267561.3:c.1506A>G, XM_005267561.2:c.1506A>G, XM_005267561.1:c.1506A>G, XM_005267563.5:c.897A>G, XM_005267563.4:c.897A>G, XM_005267563.3:c.897A>G, XM_005267563.2:c.897A>G, XM_005267563.1:c.897A>G, XM_011536672.4:c.1509A>G, XM_011536672.3:c.1509A>G, XM_011536672.2:c.1509A>G, XM_011536672.1:c.1509A>G, XM_011536673.3:c.1359A>G, XM_011536673.2:c.1359A>G, XM_011536673.1:c.1359A>G, XM_024449553.2:c.795A>G, XM_024449553.1:c.795A>G, XM_047431306.1:c.996A>G, XM_047431307.1:c.993A>G, XM_047431308.1:c.846A>G, XM_047431310.1:c.843A>G, XM_047431302.1:c.1356A>G, XM_047431304.1:c.1014A>G, XM_047431305.1:c.1011A>G, XM_047431303.1:c.1017A>G, XM_047431311.1:c.669A>G

                          13.

                          rs1475950756 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            14:105210576 (GRCh38)
                            14:105676913 (GRCh37)
                            Canonical SPDI:
                            NC_000014.9:105210575:T:C
                            Gene:
                            BRF1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,genic_downstream_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)
                            HGVS:
                            NC_000014.9:g.105210576T>C, NC_000014.8:g.105676913T>C, NG_029489.1:g.110002A>G, NM_001519.4:c.2009A>G, NM_001519.3:c.2009A>G, NM_145685.3:c.1397A>G, NM_145685.2:c.1397A>G, NM_001242788.2:c.1928A>G, NM_001242788.1:c.1928A>G, NM_001242786.2:c.1730A>G, NM_001242786.1:c.1730A>G, NM_001242787.2:c.1664A>G, NM_001242787.1:c.1664A>G, NM_001242789.2:c.1295A>G, NM_001242789.1:c.1295A>G, XM_005267561.5:c.2006A>G, XM_005267561.4:c.2006A>G, XM_005267561.3:c.2006A>G, XM_005267561.2:c.2006A>G, XM_005267561.1:c.2006A>G, XM_005267563.5:c.1397A>G, XM_005267563.4:c.1397A>G, XM_005267563.3:c.1397A>G, XM_005267563.2:c.1397A>G, XM_005267563.1:c.1397A>G, XM_011536673.3:c.1859A>G, XM_011536673.2:c.1859A>G, XM_011536673.1:c.1859A>G, XM_024449553.2:c.1295A>G, XM_024449553.1:c.1295A>G, XM_047431306.1:c.1496A>G, XM_047431307.1:c.1493A>G, XM_047431308.1:c.1346A>G, XM_047431310.1:c.1343A>G, XM_047431302.1:c.1856A>G, XM_047431304.1:c.1514A>G, XM_047431305.1:c.1511A>G, XM_047431303.1:c.1517A>G, XM_047431311.1:c.1169A>G, NP_001510.2:p.Asp670Gly, NP_663718.1:p.Asp466Gly, NP_001229717.1:p.Asp643Gly, NP_001229715.1:p.Asp577Gly, NP_001229716.1:p.Asp555Gly, NP_001229718.1:p.Asp432Gly, XP_005267618.1:p.Asp669Gly, XP_005267620.1:p.Asp466Gly, XP_011534975.1:p.Asp620Gly, XP_024305321.1:p.Asp432Gly, XP_047287262.1:p.Asp499Gly, XP_047287263.1:p.Asp498Gly, XP_047287264.1:p.Asp449Gly, XP_047287266.1:p.Asp448Gly, XP_047287258.1:p.Asp619Gly, XP_047287260.1:p.Asp505Gly, XP_047287261.1:p.Asp504Gly, XP_047287259.1:p.Asp506Gly, XP_047287267.1:p.Asp390Gly

                            14.

                            rs1475773040 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              14:105211246 (GRCh38)
                              14:105677583 (GRCh37)
                              Canonical SPDI:
                              NC_000014.9:105211245:G:C
                              Gene:
                              BRF1 (Varview)
                              Functional Consequence:
                              synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0.000071/1 (ALFA)
                              C=0.00002/5 (GnomAD_exomes)
                              C=0.000038/10 (TOPMED)
                              HGVS:
                              NC_000014.9:g.105211246G>C, NC_000014.8:g.105677583G>C, NG_029489.1:g.109332C>G, NM_001519.4:c.1872C>G, NM_001519.3:c.1872C>G, NM_145685.3:c.1260C>G, NM_145685.2:c.1260C>G, NM_001242788.2:c.1791C>G, NM_001242788.1:c.1791C>G, NM_001242786.2:c.1593C>G, NM_001242786.1:c.1593C>G, NM_001242787.2:c.1527C>G, NM_001242787.1:c.1527C>G, NM_001242789.2:c.1158C>G, NM_001242789.1:c.1158C>G, XM_005267561.5:c.1869C>G, XM_005267561.4:c.1869C>G, XM_005267561.3:c.1869C>G, XM_005267561.2:c.1869C>G, XM_005267561.1:c.1869C>G, XM_005267563.5:c.1260C>G, XM_005267563.4:c.1260C>G, XM_005267563.3:c.1260C>G, XM_005267563.2:c.1260C>G, XM_005267563.1:c.1260C>G, XM_011536673.3:c.1722C>G, XM_011536673.2:c.1722C>G, XM_011536673.1:c.1722C>G, XM_024449553.2:c.1158C>G, XM_024449553.1:c.1158C>G, XM_047431306.1:c.1359C>G, XM_047431307.1:c.1356C>G, XM_047431308.1:c.1209C>G, XM_047431310.1:c.1206C>G, XM_047431302.1:c.1719C>G, XM_047431304.1:c.1377C>G, XM_047431305.1:c.1374C>G, XM_047431303.1:c.1380C>G, XM_047431311.1:c.1032C>G

                              15.

                              rs1472627627 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                14:105300475 (GRCh38)
                                14:105766812 (GRCh37)
                                Canonical SPDI:
                                NC_000014.9:105300474:G:A
                                Gene:
                                BRF1 (Varview), PACS2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                Clinical significance:
                                uncertain-significance
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000004/1 (TOPMED)
                                A=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1470485854 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,T [Show Flanks]
                                  Chromosome:
                                  14:105226123 (GRCh38)
                                  14:105692460 (GRCh37)
                                  Canonical SPDI:
                                  NC_000014.9:105226122:G:A,NC_000014.9:105226122:G:T
                                  Gene:
                                  BRF1 (Varview)
                                  Functional Consequence:
                                  synonymous_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)
                                  A=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000014.9:g.105226123G>A, NC_000014.9:g.105226123G>T, NC_000014.8:g.105692460G>A, NC_000014.8:g.105692460G>T, NG_029489.1:g.94455C>T, NG_029489.1:g.94455C>A, NM_001519.4:c.994C>T, NM_001519.4:c.994C>A, NM_001519.3:c.994C>T, NM_001519.3:c.994C>A, NM_145685.3:c.382C>T, NM_145685.3:c.382C>A, NM_145685.2:c.382C>T, NM_145685.2:c.382C>A, NM_001242788.2:c.913C>T, NM_001242788.2:c.913C>A, NM_001242788.1:c.913C>T, NM_001242788.1:c.913C>A, NM_001242786.2:c.649C>T, NM_001242786.2:c.649C>A, NM_001242786.1:c.649C>T, NM_001242786.1:c.649C>A, NM_001242787.2:c.649C>T, NM_001242787.2:c.649C>A, NM_001242787.1:c.649C>T, NM_001242787.1:c.649C>A, NM_001242789.2:c.280C>T, NM_001242789.2:c.280C>A, NM_001242789.1:c.280C>T, NM_001242789.1:c.280C>A, XM_005267561.5:c.994C>T, XM_005267561.5:c.994C>A, XM_005267561.4:c.994C>T, XM_005267561.4:c.994C>A, XM_005267561.3:c.994C>T, XM_005267561.3:c.994C>A, XM_005267561.2:c.994C>T, XM_005267561.2:c.994C>A, XM_005267561.1:c.994C>T, XM_005267561.1:c.994C>A, XM_005267563.5:c.382C>T, XM_005267563.5:c.382C>A, XM_005267563.4:c.382C>T, XM_005267563.4:c.382C>A, XM_005267563.3:c.382C>T, XM_005267563.3:c.382C>A, XM_005267563.2:c.382C>T, XM_005267563.2:c.382C>A, XM_005267563.1:c.382C>T, XM_005267563.1:c.382C>A, XM_011536672.4:c.994C>T, XM_011536672.4:c.994C>A, XM_011536672.3:c.994C>T, XM_011536672.3:c.994C>A, XM_011536672.2:c.994C>T, XM_011536672.2:c.994C>A, XM_011536672.1:c.994C>T, XM_011536672.1:c.994C>A, XM_011536673.3:c.844C>T, XM_011536673.3:c.844C>A, XM_011536673.2:c.844C>T, XM_011536673.2:c.844C>A, XM_011536673.1:c.844C>T, XM_011536673.1:c.844C>A, XM_024449553.2:c.280C>T, XM_024449553.2:c.280C>A, XM_024449553.1:c.280C>T, XM_024449553.1:c.280C>A, XM_047431306.1:c.481C>T, XM_047431306.1:c.481C>A, XM_047431307.1:c.481C>T, XM_047431307.1:c.481C>A, XM_047431308.1:c.331C>T, XM_047431308.1:c.331C>A, XM_047431310.1:c.331C>T, XM_047431310.1:c.331C>A, XM_047431302.1:c.844C>T, XM_047431302.1:c.844C>A, XM_047431304.1:c.499C>T, XM_047431304.1:c.499C>A, XM_047431305.1:c.499C>T, XM_047431305.1:c.499C>A, XM_047431303.1:c.502C>T, XM_047431303.1:c.502C>A, XM_047431311.1:c.154C>T, XM_047431311.1:c.154C>A, NP_001510.2:p.Leu332Ile, NP_663718.1:p.Leu128Ile, NP_001229717.1:p.Leu305Ile, NP_001229715.1:p.Leu217Ile, NP_001229716.1:p.Leu217Ile, NP_001229718.1:p.Leu94Ile, XP_005267618.1:p.Leu332Ile, XP_005267620.1:p.Leu128Ile, XP_011534974.1:p.Leu332Ile, XP_011534975.1:p.Leu282Ile, XP_024305321.1:p.Leu94Ile, XP_047287262.1:p.Leu161Ile, XP_047287263.1:p.Leu161Ile, XP_047287264.1:p.Leu111Ile, XP_047287266.1:p.Leu111Ile, XP_047287258.1:p.Leu282Ile, XP_047287260.1:p.Leu167Ile, XP_047287261.1:p.Leu167Ile, XP_047287259.1:p.Leu168Ile, XP_047287267.1:p.Leu52Ile

                                  17.

                                  rs1468263200 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    14:105300567 (GRCh38)
                                    14:105766904 (GRCh37)
                                    Canonical SPDI:
                                    NC_000014.9:105300566:C:T
                                    Gene:
                                    BRF1 (Varview), PACS2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1465825363 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      14:105226712 (GRCh38)
                                      14:105693049 (GRCh37)
                                      Canonical SPDI:
                                      NC_000014.9:105226711:C:G,NC_000014.9:105226711:C:T
                                      Gene:
                                      BRF1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000014.9:g.105226712C>G, NC_000014.9:g.105226712C>T, NC_000014.8:g.105693049C>G, NC_000014.8:g.105693049C>T, NG_029489.1:g.93866G>C, NG_029489.1:g.93866G>A, NM_001519.4:c.837G>C, NM_001519.4:c.837G>A, NM_001519.3:c.837G>C, NM_001519.3:c.837G>A, NM_145685.3:c.225G>C, NM_145685.3:c.225G>A, NM_145685.2:c.225G>C, NM_145685.2:c.225G>A, NM_001242788.2:c.756G>C, NM_001242788.2:c.756G>A, NM_001242788.1:c.756G>C, NM_001242788.1:c.756G>A, NM_001242786.2:c.492G>C, NM_001242786.2:c.492G>A, NM_001242786.1:c.492G>C, NM_001242786.1:c.492G>A, NM_001242787.2:c.492G>C, NM_001242787.2:c.492G>A, NM_001242787.1:c.492G>C, NM_001242787.1:c.492G>A, NM_001242789.2:c.123G>C, NM_001242789.2:c.123G>A, NM_001242789.1:c.123G>C, NM_001242789.1:c.123G>A, XM_005267561.5:c.837G>C, XM_005267561.5:c.837G>A, XM_005267561.4:c.837G>C, XM_005267561.4:c.837G>A, XM_005267561.3:c.837G>C, XM_005267561.3:c.837G>A, XM_005267561.2:c.837G>C, XM_005267561.2:c.837G>A, XM_005267561.1:c.837G>C, XM_005267561.1:c.837G>A, XM_005267563.5:c.225G>C, XM_005267563.5:c.225G>A, XM_005267563.4:c.225G>C, XM_005267563.4:c.225G>A, XM_005267563.3:c.225G>C, XM_005267563.3:c.225G>A, XM_005267563.2:c.225G>C, XM_005267563.2:c.225G>A, XM_005267563.1:c.225G>C, XM_005267563.1:c.225G>A, XM_011536672.4:c.837G>C, XM_011536672.4:c.837G>A, XM_011536672.3:c.837G>C, XM_011536672.3:c.837G>A, XM_011536672.2:c.837G>C, XM_011536672.2:c.837G>A, XM_011536672.1:c.837G>C, XM_011536672.1:c.837G>A, XM_011536673.3:c.687G>C, XM_011536673.3:c.687G>A, XM_011536673.2:c.687G>C, XM_011536673.2:c.687G>A, XM_011536673.1:c.687G>C, XM_011536673.1:c.687G>A, XM_024449553.2:c.123G>C, XM_024449553.2:c.123G>A, XM_024449553.1:c.123G>C, XM_024449553.1:c.123G>A, XM_047431306.1:c.324G>C, XM_047431306.1:c.324G>A, XM_047431307.1:c.324G>C, XM_047431307.1:c.324G>A, XM_047431308.1:c.174G>C, XM_047431308.1:c.174G>A, XM_047431310.1:c.174G>C, XM_047431310.1:c.174G>A, XM_047431302.1:c.687G>C, XM_047431302.1:c.687G>A, XM_047431304.1:c.342G>C, XM_047431304.1:c.342G>A, XM_047431305.1:c.342G>C, XM_047431305.1:c.342G>A, XM_047431303.1:c.345G>C, XM_047431303.1:c.345G>A, XM_047431311.1:c.-4G>C, XM_047431311.1:c.-4G>A, NM_145696.1:c.225G>C, NM_145696.1:c.225G>A, NP_001510.2:p.Glu279Asp, NP_663718.1:p.Glu75Asp, NP_001229717.1:p.Glu252Asp, NP_001229715.1:p.Glu164Asp, NP_001229716.1:p.Glu164Asp, NP_001229718.1:p.Glu41Asp, XP_005267618.1:p.Glu279Asp, XP_005267620.1:p.Glu75Asp, XP_011534974.1:p.Glu279Asp, XP_011534975.1:p.Glu229Asp, XP_024305321.1:p.Glu41Asp, XP_047287262.1:p.Glu108Asp, XP_047287263.1:p.Glu108Asp, XP_047287264.1:p.Glu58Asp, XP_047287266.1:p.Glu58Asp, XP_047287258.1:p.Glu229Asp, XP_047287260.1:p.Glu114Asp, XP_047287261.1:p.Glu114Asp, XP_047287259.1:p.Glu115Asp

                                      19.

                                      rs1465351852 has merged into rs776899977 [Homo sapiens]
                                        Variant type:
                                        DELINS
                                        Alleles:
                                        GCTCCTCCTCGTCAG>-,GCTCCTCCTCGTCAGGCTCCTCCTCGTCAG [Show Flanks]
                                        Chromosome:
                                        14:105211179 (GRCh38)
                                        14:105677516 (GRCh37)
                                        Canonical SPDI:
                                        NC_000014.9:105211165:TCCTCCTCGTCAGGCTCCTCCTCGTCAG:TCCTCCTCGTCAG,NC_000014.9:105211165:TCCTCCTCGTCAGGCTCCTCCTCGTCAG:TCCTCCTCGTCAGGCTCCTCCTCGTCAGGCTCCTCCTCGTCAG
                                        Gene:
                                        BRF1 (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,inframe_insertion,inframe_deletion,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        TCCTCCTCGTCAGGCTCCTCCTCGTCAGGCTCCTCCTCGTCAG=0./0 (ALFA)
                                        TCCTCCTCGTCAGGC=0.000008/1 (ExAC)
                                        TCCTCCTCGTCAGGC=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000014.9:g.105211179_105211193del, NC_000014.9:g.105211179_105211193dup, NC_000014.8:g.105677516_105677530del, NC_000014.8:g.105677516_105677530dup, NG_029489.1:g.109398_109412del, NG_029489.1:g.109398_109412dup, NM_001519.4:c.1938_1952del, NM_001519.4:c.1938_1952dup, NM_001519.3:c.1938_1952del, NM_001519.3:c.1938_1952dup, NM_145685.3:c.1326_1340del, NM_145685.3:c.1326_1340dup, NM_145685.2:c.1326_1340del, NM_145685.2:c.1326_1340dup, NM_001242788.2:c.1857_1871del, NM_001242788.2:c.1857_1871dup, NM_001242788.1:c.1857_1871del, NM_001242788.1:c.1857_1871dup, NM_001242786.2:c.1659_1673del, NM_001242786.2:c.1659_1673dup, NM_001242786.1:c.1659_1673del, NM_001242786.1:c.1659_1673dup, NM_001242787.2:c.1593_1607del, NM_001242787.2:c.1593_1607dup, NM_001242787.1:c.1593_1607del, NM_001242787.1:c.1593_1607dup, NM_001242789.2:c.1224_1238del, NM_001242789.2:c.1224_1238dup, NM_001242789.1:c.1224_1238del, NM_001242789.1:c.1224_1238dup, XM_005267561.5:c.1935_1949del, XM_005267561.5:c.1935_1949dup, XM_005267561.4:c.1935_1949del, XM_005267561.4:c.1935_1949dup, XM_005267561.3:c.1935_1949del, XM_005267561.3:c.1935_1949dup, XM_005267561.2:c.1935_1949del, XM_005267561.2:c.1935_1949dup, XM_005267561.1:c.1935_1949del, XM_005267561.1:c.1935_1949dup, XM_005267563.5:c.1326_1340del, XM_005267563.5:c.1326_1340dup, XM_005267563.4:c.1326_1340del, XM_005267563.4:c.1326_1340dup, XM_005267563.3:c.1326_1340del, XM_005267563.3:c.1326_1340dup, XM_005267563.2:c.1326_1340del, XM_005267563.2:c.1326_1340dup, XM_005267563.1:c.1326_1340del, XM_005267563.1:c.1326_1340dup, XM_011536673.3:c.1788_1802del, XM_011536673.3:c.1788_1802dup, XM_011536673.2:c.1788_1802del, XM_011536673.2:c.1788_1802dup, XM_011536673.1:c.1788_1802del, XM_011536673.1:c.1788_1802dup, XM_024449553.2:c.1224_1238del, XM_024449553.2:c.1224_1238dup, XM_024449553.1:c.1224_1238del, XM_024449553.1:c.1224_1238dup, XM_047431306.1:c.1425_1439del, XM_047431306.1:c.1425_1439dup, XM_047431307.1:c.1422_1436del, XM_047431307.1:c.1422_1436dup, XM_047431308.1:c.1275_1289del, XM_047431308.1:c.1275_1289dup, XM_047431310.1:c.1272_1286del, XM_047431310.1:c.1272_1286dup, XM_047431302.1:c.1785_1799del, XM_047431302.1:c.1785_1799dup, XM_047431304.1:c.1443_1457del, XM_047431304.1:c.1443_1457dup, XM_047431305.1:c.1440_1454del, XM_047431305.1:c.1440_1454dup, XM_047431303.1:c.1446_1460del, XM_047431303.1:c.1446_1460dup, XM_047431311.1:c.1098_1112del, XM_047431311.1:c.1098_1112dup, NP_001510.2:p.Glu646_Glu650del, NP_001510.2:p.Glu646_Glu650dup, NP_663718.1:p.Glu442_Glu446del, NP_663718.1:p.Glu442_Glu446dup, NP_001229717.1:p.Glu619_Glu623del, NP_001229717.1:p.Glu619_Glu623dup, NP_001229715.1:p.Glu553_Glu557del, NP_001229715.1:p.Glu553_Glu557dup, NP_001229716.1:p.Glu531_Glu535del, NP_001229716.1:p.Glu531_Glu535dup, NP_001229718.1:p.Glu408_Glu412del, NP_001229718.1:p.Glu408_Glu412dup, XP_005267618.1:p.Glu645_Glu649del, XP_005267618.1:p.Glu645_Glu649dup, XP_005267620.1:p.Glu442_Glu446del, XP_005267620.1:p.Glu442_Glu446dup, XP_011534975.1:p.Glu596_Glu600del, XP_011534975.1:p.Glu596_Glu600dup, XP_024305321.1:p.Glu408_Glu412del, XP_024305321.1:p.Glu408_Glu412dup, XP_047287262.1:p.Glu475_Glu479del, XP_047287262.1:p.Glu475_Glu479dup, XP_047287263.1:p.Glu474_Glu478del, XP_047287263.1:p.Glu474_Glu478dup, XP_047287264.1:p.Glu425_Glu429del, XP_047287264.1:p.Glu425_Glu429dup, XP_047287266.1:p.Glu424_Glu428del, XP_047287266.1:p.Glu424_Glu428dup, XP_047287258.1:p.Glu595_Glu599del, XP_047287258.1:p.Glu595_Glu599dup, XP_047287260.1:p.Glu481_Glu485del, XP_047287260.1:p.Glu481_Glu485dup, XP_047287261.1:p.Glu480_Glu484del, XP_047287261.1:p.Glu480_Glu484dup, XP_047287259.1:p.Glu482_Glu486del, XP_047287259.1:p.Glu482_Glu486dup, XP_047287267.1:p.Glu366_Glu370del, XP_047287267.1:p.Glu366_Glu370dup

                                        20.

                                        rs1463895752 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          14:105241408 (GRCh38)
                                          14:105707745 (GRCh37)
                                          Canonical SPDI:
                                          NC_000014.9:105241407:C:A
                                          Gene:
                                          BRF1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000004/1 (TOPMED)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000014.9:g.105241408C>A, NC_000014.8:g.105707745C>A, NG_029489.1:g.79170G>T, NM_001519.4:c.551G>T, NM_001519.3:c.551G>T, NM_145685.3:c.-62G>T, NM_145685.2:c.-62G>T, NM_001242788.2:c.470G>T, NM_001242788.1:c.470G>T, NM_001242786.2:c.206G>T, NM_001242786.1:c.206G>T, NM_001242787.2:c.206G>T, NM_001242787.1:c.206G>T, XM_005267561.5:c.551G>T, XM_005267561.4:c.551G>T, XM_005267561.3:c.551G>T, XM_005267561.2:c.551G>T, XM_005267561.1:c.551G>T, XM_005267563.5:c.-62G>T, XM_005267563.4:c.-62G>T, XM_005267563.3:c.-62G>T, XM_005267563.2:c.-62G>T, XM_005267563.1:c.-62G>T, XM_011536672.4:c.551G>T, XM_011536672.3:c.551G>T, XM_011536672.2:c.551G>T, XM_011536672.1:c.551G>T, XM_047431306.1:c.38G>T, XM_047431307.1:c.38G>T, XM_047431303.1:c.59G>T, NM_145696.1:c.-62G>T, NP_001510.2:p.Cys184Phe, NP_001229717.1:p.Cys157Phe, NP_001229715.1:p.Cys69Phe, NP_001229716.1:p.Cys69Phe, XP_005267618.1:p.Cys184Phe, XP_011534974.1:p.Cys184Phe, XP_047287262.1:p.Cys13Phe, XP_047287263.1:p.Cys13Phe, XP_047287259.1:p.Cys20Phe

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