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Items: 1 to 20 of 617

1.

rs1488756559 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C,T [Show Flanks]
    Chromosome:
    18:48761671 (GRCh38)
    18:46288042 (GRCh37)
    Canonical SPDI:
    NC_000018.10:48761670:G:C,NC_000018.10:48761670:G:T
    Gene:
    CTIF (Varview), LOC107985147 (Varview)
    Functional Consequence:
    2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000018.10:g.48761671G>C, NC_000018.10:g.48761671G>T, NC_000018.9:g.46288042G>C, NC_000018.9:g.46288042G>T, NW_013171814.1:g.250941G>C, NW_013171814.1:g.250941G>T, XM_006722588.5:c.1359G>C, XM_006722588.5:c.1359G>T, XM_006722588.4:c.1359G>C, XM_006722588.4:c.1359G>T, XM_006722588.3:c.1359G>C, XM_006722588.3:c.1359G>T, XM_006722588.2:c.1359G>C, XM_006722588.2:c.1359G>T, XM_006722588.1:c.1359G>C, XM_006722588.1:c.1359G>T, XM_005258392.5:c.1407G>C, XM_005258392.5:c.1407G>T, XM_005258392.4:c.1407G>C, XM_005258392.4:c.1407G>T, XM_005258392.3:c.1407G>C, XM_005258392.3:c.1407G>T, XM_005258392.2:c.1407G>C, XM_005258392.2:c.1407G>T, XM_005258392.1:c.1407G>C, XM_005258392.1:c.1407G>T, XM_006722586.4:c.1401G>C, XM_006722586.4:c.1401G>T, XM_006722586.3:c.1401G>C, XM_006722586.3:c.1401G>T, XM_006722586.2:c.1401G>C, XM_006722586.2:c.1401G>T, XM_006722586.1:c.1401G>C, XM_006722586.1:c.1401G>T, XM_006722583.4:c.1407G>C, XM_006722583.4:c.1407G>T, XM_006722583.3:c.1407G>C, XM_006722583.3:c.1407G>T, XM_006722583.2:c.1407G>C, XM_006722583.2:c.1407G>T, XM_006722583.1:c.1407G>C, XM_006722583.1:c.1407G>T, XM_006722587.4:c.1359G>C, XM_006722587.4:c.1359G>T, XM_006722587.3:c.1359G>C, XM_006722587.3:c.1359G>T, XM_006722587.2:c.1359G>C, XM_006722587.2:c.1359G>T, XM_006722587.1:c.1359G>C, XM_006722587.1:c.1359G>T, XM_011526278.4:c.1284G>C, XM_011526278.4:c.1284G>T, XM_011526278.3:c.1284G>C, XM_011526278.3:c.1284G>T, XM_011526278.2:c.1284G>C, XM_011526278.2:c.1284G>T, XM_011526278.1:c.1284G>C, XM_011526278.1:c.1284G>T, XM_011526279.3:c.1353G>C, XM_011526279.3:c.1353G>T, XM_011526279.2:c.1353G>C, XM_011526279.2:c.1353G>T, XM_011526279.1:c.1353G>C, XM_011526279.1:c.1353G>T, NM_014772.3:c.1353G>C, NM_014772.3:c.1353G>T, NM_014772.2:c.1353G>C, NM_014772.2:c.1353G>T, XM_017026101.2:c.1407G>C, XM_017026101.2:c.1407G>T, XM_017026101.1:c.1407G>C, XM_017026101.1:c.1407G>T, XM_017026100.2:c.1407G>C, XM_017026100.2:c.1407G>T, XM_017026100.1:c.1407G>C, XM_017026100.1:c.1407G>T, NM_001142397.2:c.1359G>C, NM_001142397.2:c.1359G>T, NM_001142397.1:c.1359G>C, NM_001142397.1:c.1359G>T, XM_017026102.2:c.1359G>C, XM_017026102.2:c.1359G>T, XM_017026102.1:c.1359G>C, XM_017026102.1:c.1359G>T, XM_047437960.1:c.1407G>C, XM_047437960.1:c.1407G>T, XM_047437965.1:c.1359G>C, XM_047437965.1:c.1359G>T, XM_047437961.1:c.1407G>C, XM_047437961.1:c.1407G>T, XM_047437964.1:c.1401G>C, XM_047437964.1:c.1401G>T, XM_047437967.1:c.1359G>C, XM_047437967.1:c.1359G>T, XM_047437970.1:c.1353G>C, XM_047437970.1:c.1353G>T, XM_047437966.1:c.1359G>C, XM_047437966.1:c.1359G>T, XM_047437969.1:c.1353G>C, XM_047437969.1:c.1353G>T, XM_047437962.1:c.1407G>C, XM_047437962.1:c.1407G>T, XM_047437971.1:c.1353G>C, XM_047437971.1:c.1353G>T, XM_047437963.1:c.1401G>C, XM_047437963.1:c.1401G>T, XM_047437968.1:c.1353G>C, XM_047437968.1:c.1353G>T

    2.

    rs1488685093 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      18:48758188 (GRCh38)
      18:46284559 (GRCh37)
      Canonical SPDI:
      NC_000018.10:48758187:C:T
      Gene:
      CTIF (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      T=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000018.10:g.48758188C>T, NC_000018.9:g.46284559C>T, NW_013171814.1:g.247458C>T, XM_006722588.5:c.854C>T, XM_006722588.4:c.854C>T, XM_006722588.3:c.854C>T, XM_006722588.2:c.854C>T, XM_006722588.1:c.854C>T, XM_005258392.5:c.902C>T, XM_005258392.4:c.902C>T, XM_005258392.3:c.902C>T, XM_005258392.2:c.902C>T, XM_005258392.1:c.902C>T, XM_006722586.4:c.902C>T, XM_006722586.3:c.902C>T, XM_006722586.2:c.902C>T, XM_006722586.1:c.902C>T, XM_006722583.4:c.902C>T, XM_006722583.3:c.902C>T, XM_006722583.2:c.902C>T, XM_006722583.1:c.902C>T, XM_006722587.4:c.854C>T, XM_006722587.3:c.854C>T, XM_006722587.2:c.854C>T, XM_006722587.1:c.854C>T, XM_011526278.4:c.779C>T, XM_011526278.3:c.779C>T, XM_011526278.2:c.779C>T, XM_011526278.1:c.779C>T, XM_011526279.3:c.854C>T, XM_011526279.2:c.854C>T, XM_011526279.1:c.854C>T, NM_014772.3:c.854C>T, NM_014772.2:c.854C>T, XM_017026101.2:c.902C>T, XM_017026101.1:c.902C>T, XM_017026100.2:c.902C>T, XM_017026100.1:c.902C>T, NM_001142397.2:c.854C>T, NM_001142397.1:c.854C>T, XM_017026102.2:c.854C>T, XM_017026102.1:c.854C>T, XM_047437960.1:c.902C>T, XM_047437965.1:c.854C>T, XM_047437961.1:c.902C>T, XM_047437964.1:c.902C>T, XM_047437967.1:c.854C>T, XM_047437970.1:c.854C>T, XM_047437966.1:c.854C>T, XM_047437969.1:c.854C>T, XM_047437962.1:c.902C>T, XM_047437971.1:c.854C>T, XM_047437963.1:c.902C>T, XM_047437968.1:c.854C>T, XP_006722651.1:p.Thr285Ile, XP_005258449.1:p.Thr301Ile, XP_006722649.1:p.Thr301Ile, XP_006722646.1:p.Thr301Ile, XP_006722650.1:p.Thr285Ile, XP_011524580.1:p.Thr260Ile, XP_011524581.1:p.Thr285Ile, NP_055587.1:p.Thr285Ile, XP_016881590.1:p.Thr301Ile, XP_016881589.1:p.Thr301Ile, NP_001135869.1:p.Thr285Ile, XP_016881591.1:p.Thr285Ile, XP_047293916.1:p.Thr301Ile, XP_047293921.1:p.Thr285Ile, XP_047293917.1:p.Thr301Ile, XP_047293920.1:p.Thr301Ile, XP_047293923.1:p.Thr285Ile, XP_047293926.1:p.Thr285Ile, XP_047293922.1:p.Thr285Ile, XP_047293925.1:p.Thr285Ile, XP_047293918.1:p.Thr301Ile, XP_047293927.1:p.Thr285Ile, XP_047293919.1:p.Thr301Ile, XP_047293924.1:p.Thr285Ile

      3.

      rs1487672576 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        18:48619622 (GRCh38)
        18:46145993 (GRCh37)
        Canonical SPDI:
        NC_000018.10:48619621:G:A
        Gene:
        CTIF (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (TOPMED)
        HGVS:
        NC_000018.10:g.48619622G>A, NC_000018.9:g.46145993G>A, NW_013171814.1:g.104640G>A, XM_006722588.5:c.57G>A, XM_006722588.4:c.57G>A, XM_006722588.3:c.57G>A, XM_006722588.2:c.57G>A, XM_006722588.1:c.57G>A, XM_005258392.5:c.57G>A, XM_005258392.4:c.57G>A, XM_005258392.3:c.57G>A, XM_005258392.2:c.57G>A, XM_005258392.1:c.57G>A, XM_006722586.4:c.57G>A, XM_006722586.3:c.57G>A, XM_006722586.2:c.57G>A, XM_006722586.1:c.57G>A, XM_006722583.4:c.57G>A, XM_006722583.3:c.57G>A, XM_006722583.2:c.57G>A, XM_006722583.1:c.57G>A, XM_006722587.4:c.57G>A, XM_006722587.3:c.57G>A, XM_006722587.2:c.57G>A, XM_006722587.1:c.57G>A, XM_011526279.3:c.57G>A, XM_011526279.2:c.57G>A, XM_011526279.1:c.57G>A, NM_014772.3:c.57G>A, NM_014772.2:c.57G>A, XM_017026101.2:c.57G>A, XM_017026101.1:c.57G>A, XM_017026100.2:c.57G>A, XM_017026100.1:c.57G>A, NM_001142397.2:c.57G>A, NM_001142397.1:c.57G>A, XM_017026102.2:c.57G>A, XM_017026102.1:c.57G>A, XM_047437960.1:c.57G>A, XM_047437961.1:c.57G>A, XM_047437964.1:c.57G>A, XM_047437967.1:c.57G>A, XM_047437970.1:c.57G>A, XM_047437966.1:c.57G>A, XM_047437962.1:c.57G>A, XM_047437971.1:c.57G>A, XM_047437963.1:c.57G>A, XM_047437968.1:c.57G>A, XM_047437965.1:c.57G>A, XM_047437969.1:c.57G>A

        4.

        rs1486788155 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          18:48859439 (GRCh38)
          18:46385810 (GRCh37)
          Canonical SPDI:
          NC_000018.10:48859438:G:A
          Gene:
          CTIF (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000018.10:g.48859439G>A, NC_000018.9:g.46385810G>A, NW_013171814.1:g.348709G>A, XM_006722588.5:c.1683G>A, XM_006722588.4:c.1683G>A, XM_006722588.3:c.1683G>A, XM_006722588.2:c.1683G>A, XM_006722588.1:c.1683G>A, XM_005258392.5:c.1731G>A, XM_005258392.4:c.1731G>A, XM_005258392.3:c.1731G>A, XM_005258392.2:c.1731G>A, XM_005258392.1:c.1731G>A, XM_006722586.4:c.1725G>A, XM_006722586.3:c.1725G>A, XM_006722586.2:c.1725G>A, XM_006722586.1:c.1725G>A, XM_006722583.4:c.1731G>A, XM_006722583.3:c.1731G>A, XM_006722583.2:c.1731G>A, XM_006722583.1:c.1731G>A, XM_006722587.4:c.1683G>A, XM_006722587.3:c.1683G>A, XM_006722587.2:c.1683G>A, XM_006722587.1:c.1683G>A, XM_011526278.4:c.1608G>A, XM_011526278.3:c.1608G>A, XM_011526278.2:c.1608G>A, XM_011526278.1:c.1608G>A, XM_011526279.3:c.1677G>A, XM_011526279.2:c.1677G>A, XM_011526279.1:c.1677G>A, NM_014772.3:c.1677G>A, NM_014772.2:c.1677G>A, XM_017026101.2:c.1731G>A, XM_017026101.1:c.1731G>A, XM_017026100.2:c.1731G>A, XM_017026100.1:c.1731G>A, NM_001142397.2:c.1683G>A, NM_001142397.1:c.1683G>A, XM_017026102.2:c.1683G>A, XM_017026102.1:c.1683G>A, XM_047437960.1:c.1731G>A, XM_047437965.1:c.1683G>A, XM_047437961.1:c.1731G>A, XM_047437964.1:c.1725G>A, XM_047437967.1:c.1683G>A, XM_047437970.1:c.1677G>A, XM_047437966.1:c.1683G>A, XM_047437969.1:c.1677G>A, XM_047437962.1:c.1731G>A, XM_047437971.1:c.1677G>A, XM_047437963.1:c.1725G>A, XM_047437968.1:c.1677G>A

          5.

          rs1485712975 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            18:48663803 (GRCh38)
            18:46190174 (GRCh37)
            Canonical SPDI:
            NC_000018.10:48663802:G:A
            Gene:
            CTIF (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000008/2 (GnomAD_exomes)
            HGVS:
            NC_000018.10:g.48663803G>A, NC_000018.9:g.46190174G>A, NW_013171814.1:g.148847G>A, XM_006722588.5:c.304G>A, XM_006722588.4:c.304G>A, XM_006722588.3:c.304G>A, XM_006722588.2:c.304G>A, XM_006722588.1:c.304G>A, XM_005258392.5:c.352G>A, XM_005258392.4:c.352G>A, XM_005258392.3:c.352G>A, XM_005258392.2:c.352G>A, XM_005258392.1:c.352G>A, XM_006722586.4:c.352G>A, XM_006722586.3:c.352G>A, XM_006722586.2:c.352G>A, XM_006722586.1:c.352G>A, XM_006722583.4:c.352G>A, XM_006722583.3:c.352G>A, XM_006722583.2:c.352G>A, XM_006722583.1:c.352G>A, XM_006722587.4:c.304G>A, XM_006722587.3:c.304G>A, XM_006722587.2:c.304G>A, XM_006722587.1:c.304G>A, XM_011526278.4:c.229G>A, XM_011526278.3:c.229G>A, XM_011526278.2:c.229G>A, XM_011526278.1:c.229G>A, XM_011526279.3:c.304G>A, XM_011526279.2:c.304G>A, XM_011526279.1:c.304G>A, NM_014772.3:c.304G>A, NM_014772.2:c.304G>A, XM_017026101.2:c.352G>A, XM_017026101.1:c.352G>A, XM_017026100.2:c.352G>A, XM_017026100.1:c.352G>A, NM_001142397.2:c.304G>A, NM_001142397.1:c.304G>A, XM_017026102.2:c.304G>A, XM_017026102.1:c.304G>A, XM_047437960.1:c.352G>A, XM_047437961.1:c.352G>A, XM_047437964.1:c.352G>A, XM_047437967.1:c.304G>A, XM_047437970.1:c.304G>A, XM_047437966.1:c.304G>A, XM_047437962.1:c.352G>A, XM_047437971.1:c.304G>A, XM_047437963.1:c.352G>A, XM_047437968.1:c.304G>A, XM_047437969.1:c.304G>A, XM_047437965.1:c.304G>A, XP_006722651.1:p.Ala102Thr, XP_005258449.1:p.Ala118Thr, XP_006722649.1:p.Ala118Thr, XP_006722646.1:p.Ala118Thr, XP_006722650.1:p.Ala102Thr, XP_011524580.1:p.Ala77Thr, XP_011524581.1:p.Ala102Thr, NP_055587.1:p.Ala102Thr, XP_016881590.1:p.Ala118Thr, XP_016881589.1:p.Ala118Thr, NP_001135869.1:p.Ala102Thr, XP_016881591.1:p.Ala102Thr, XP_047293916.1:p.Ala118Thr, XP_047293917.1:p.Ala118Thr, XP_047293920.1:p.Ala118Thr, XP_047293923.1:p.Ala102Thr, XP_047293926.1:p.Ala102Thr, XP_047293922.1:p.Ala102Thr, XP_047293918.1:p.Ala118Thr, XP_047293927.1:p.Ala102Thr, XP_047293919.1:p.Ala118Thr, XP_047293924.1:p.Ala102Thr, XP_047293925.1:p.Ala102Thr, XP_047293921.1:p.Ala102Thr

            6.

            rs1484298940 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              18:48761574 (GRCh38)
              18:46287945 (GRCh37)
              Canonical SPDI:
              NC_000018.10:48761573:A:G
              Gene:
              CTIF (Varview), LOC107985147 (Varview)
              Functional Consequence:
              missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (GnomAD_exomes)
              G=0.000021/3 (GnomAD)
              G=0.000026/7 (TOPMED)
              HGVS:
              NC_000018.10:g.48761574A>G, NC_000018.9:g.46287945A>G, NW_013171814.1:g.250844A>G, XM_006722588.5:c.1262A>G, XM_006722588.4:c.1262A>G, XM_006722588.3:c.1262A>G, XM_006722588.2:c.1262A>G, XM_006722588.1:c.1262A>G, XM_005258392.5:c.1310A>G, XM_005258392.4:c.1310A>G, XM_005258392.3:c.1310A>G, XM_005258392.2:c.1310A>G, XM_005258392.1:c.1310A>G, XM_006722586.4:c.1304A>G, XM_006722586.3:c.1304A>G, XM_006722586.2:c.1304A>G, XM_006722586.1:c.1304A>G, XM_006722583.4:c.1310A>G, XM_006722583.3:c.1310A>G, XM_006722583.2:c.1310A>G, XM_006722583.1:c.1310A>G, XM_006722587.4:c.1262A>G, XM_006722587.3:c.1262A>G, XM_006722587.2:c.1262A>G, XM_006722587.1:c.1262A>G, XM_011526278.4:c.1187A>G, XM_011526278.3:c.1187A>G, XM_011526278.2:c.1187A>G, XM_011526278.1:c.1187A>G, XM_011526279.3:c.1256A>G, XM_011526279.2:c.1256A>G, XM_011526279.1:c.1256A>G, NM_014772.3:c.1256A>G, NM_014772.2:c.1256A>G, XM_017026101.2:c.1310A>G, XM_017026101.1:c.1310A>G, XM_017026100.2:c.1310A>G, XM_017026100.1:c.1310A>G, NM_001142397.2:c.1262A>G, NM_001142397.1:c.1262A>G, XM_017026102.2:c.1262A>G, XM_017026102.1:c.1262A>G, XM_047437960.1:c.1310A>G, XM_047437965.1:c.1262A>G, XM_047437961.1:c.1310A>G, XM_047437964.1:c.1304A>G, XM_047437967.1:c.1262A>G, XM_047437970.1:c.1256A>G, XM_047437966.1:c.1262A>G, XM_047437969.1:c.1256A>G, XM_047437962.1:c.1310A>G, XM_047437971.1:c.1256A>G, XM_047437963.1:c.1304A>G, XM_047437968.1:c.1256A>G, XP_006722651.1:p.Gln421Arg, XP_005258449.1:p.Gln437Arg, XP_006722649.1:p.Gln435Arg, XP_006722646.1:p.Gln437Arg, XP_006722650.1:p.Gln421Arg, XP_011524580.1:p.Gln396Arg, XP_011524581.1:p.Gln419Arg, NP_055587.1:p.Gln419Arg, XP_016881590.1:p.Gln437Arg, XP_016881589.1:p.Gln437Arg, NP_001135869.1:p.Gln421Arg, XP_016881591.1:p.Gln421Arg, XP_047293916.1:p.Gln437Arg, XP_047293921.1:p.Gln421Arg, XP_047293917.1:p.Gln437Arg, XP_047293920.1:p.Gln435Arg, XP_047293923.1:p.Gln421Arg, XP_047293926.1:p.Gln419Arg, XP_047293922.1:p.Gln421Arg, XP_047293925.1:p.Gln419Arg, XP_047293918.1:p.Gln437Arg, XP_047293927.1:p.Gln419Arg, XP_047293919.1:p.Gln435Arg, XP_047293924.1:p.Gln419Arg

              7.

              rs1483406223 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>C,G [Show Flanks]
                Chromosome:
                18:48758199 (GRCh38)
                18:46284570 (GRCh37)
                Canonical SPDI:
                NC_000018.10:48758198:A:C,NC_000018.10:48758198:A:G
                Gene:
                CTIF (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000004/1 (TOPMED)
                C=0.000546/1 (Korea1K)
                HGVS:
                NC_000018.10:g.48758199A>C, NC_000018.10:g.48758199A>G, NC_000018.9:g.46284570A>C, NC_000018.9:g.46284570A>G, NW_013171814.1:g.247469A>C, NW_013171814.1:g.247469A>G, XM_006722588.5:c.865A>C, XM_006722588.5:c.865A>G, XM_006722588.4:c.865A>C, XM_006722588.4:c.865A>G, XM_006722588.3:c.865A>C, XM_006722588.3:c.865A>G, XM_006722588.2:c.865A>C, XM_006722588.2:c.865A>G, XM_006722588.1:c.865A>C, XM_006722588.1:c.865A>G, XM_005258392.5:c.913A>C, XM_005258392.5:c.913A>G, XM_005258392.4:c.913A>C, XM_005258392.4:c.913A>G, XM_005258392.3:c.913A>C, XM_005258392.3:c.913A>G, XM_005258392.2:c.913A>C, XM_005258392.2:c.913A>G, XM_005258392.1:c.913A>C, XM_005258392.1:c.913A>G, XM_006722586.4:c.913A>C, XM_006722586.4:c.913A>G, XM_006722586.3:c.913A>C, XM_006722586.3:c.913A>G, XM_006722586.2:c.913A>C, XM_006722586.2:c.913A>G, XM_006722586.1:c.913A>C, XM_006722586.1:c.913A>G, XM_006722583.4:c.913A>C, XM_006722583.4:c.913A>G, XM_006722583.3:c.913A>C, XM_006722583.3:c.913A>G, XM_006722583.2:c.913A>C, XM_006722583.2:c.913A>G, XM_006722583.1:c.913A>C, XM_006722583.1:c.913A>G, XM_006722587.4:c.865A>C, XM_006722587.4:c.865A>G, XM_006722587.3:c.865A>C, XM_006722587.3:c.865A>G, XM_006722587.2:c.865A>C, XM_006722587.2:c.865A>G, XM_006722587.1:c.865A>C, XM_006722587.1:c.865A>G, XM_011526278.4:c.790A>C, XM_011526278.4:c.790A>G, XM_011526278.3:c.790A>C, XM_011526278.3:c.790A>G, XM_011526278.2:c.790A>C, XM_011526278.2:c.790A>G, XM_011526278.1:c.790A>C, XM_011526278.1:c.790A>G, XM_011526279.3:c.865A>C, XM_011526279.3:c.865A>G, XM_011526279.2:c.865A>C, XM_011526279.2:c.865A>G, XM_011526279.1:c.865A>C, XM_011526279.1:c.865A>G, NM_014772.3:c.865A>C, NM_014772.3:c.865A>G, NM_014772.2:c.865A>C, NM_014772.2:c.865A>G, XM_017026101.2:c.913A>C, XM_017026101.2:c.913A>G, XM_017026101.1:c.913A>C, XM_017026101.1:c.913A>G, XM_017026100.2:c.913A>C, XM_017026100.2:c.913A>G, XM_017026100.1:c.913A>C, XM_017026100.1:c.913A>G, NM_001142397.2:c.865A>C, NM_001142397.2:c.865A>G, NM_001142397.1:c.865A>C, NM_001142397.1:c.865A>G, XM_017026102.2:c.865A>C, XM_017026102.2:c.865A>G, XM_017026102.1:c.865A>C, XM_017026102.1:c.865A>G, XM_047437960.1:c.913A>C, XM_047437960.1:c.913A>G, XM_047437965.1:c.865A>C, XM_047437965.1:c.865A>G, XM_047437961.1:c.913A>C, XM_047437961.1:c.913A>G, XM_047437964.1:c.913A>C, XM_047437964.1:c.913A>G, XM_047437967.1:c.865A>C, XM_047437967.1:c.865A>G, XM_047437970.1:c.865A>C, XM_047437970.1:c.865A>G, XM_047437966.1:c.865A>C, XM_047437966.1:c.865A>G, XM_047437969.1:c.865A>C, XM_047437969.1:c.865A>G, XM_047437962.1:c.913A>C, XM_047437962.1:c.913A>G, XM_047437971.1:c.865A>C, XM_047437971.1:c.865A>G, XM_047437963.1:c.913A>C, XM_047437963.1:c.913A>G, XM_047437968.1:c.865A>C, XM_047437968.1:c.865A>G, XP_006722651.1:p.Thr289Pro, XP_006722651.1:p.Thr289Ala, XP_005258449.1:p.Thr305Pro, XP_005258449.1:p.Thr305Ala, XP_006722649.1:p.Thr305Pro, XP_006722649.1:p.Thr305Ala, XP_006722646.1:p.Thr305Pro, XP_006722646.1:p.Thr305Ala, XP_006722650.1:p.Thr289Pro, XP_006722650.1:p.Thr289Ala, XP_011524580.1:p.Thr264Pro, XP_011524580.1:p.Thr264Ala, XP_011524581.1:p.Thr289Pro, XP_011524581.1:p.Thr289Ala, NP_055587.1:p.Thr289Pro, NP_055587.1:p.Thr289Ala, XP_016881590.1:p.Thr305Pro, XP_016881590.1:p.Thr305Ala, XP_016881589.1:p.Thr305Pro, XP_016881589.1:p.Thr305Ala, NP_001135869.1:p.Thr289Pro, NP_001135869.1:p.Thr289Ala, XP_016881591.1:p.Thr289Pro, XP_016881591.1:p.Thr289Ala, XP_047293916.1:p.Thr305Pro, XP_047293916.1:p.Thr305Ala, XP_047293921.1:p.Thr289Pro, XP_047293921.1:p.Thr289Ala, XP_047293917.1:p.Thr305Pro, XP_047293917.1:p.Thr305Ala, XP_047293920.1:p.Thr305Pro, XP_047293920.1:p.Thr305Ala, XP_047293923.1:p.Thr289Pro, XP_047293923.1:p.Thr289Ala, XP_047293926.1:p.Thr289Pro, XP_047293926.1:p.Thr289Ala, XP_047293922.1:p.Thr289Pro, XP_047293922.1:p.Thr289Ala, XP_047293925.1:p.Thr289Pro, XP_047293925.1:p.Thr289Ala, XP_047293918.1:p.Thr305Pro, XP_047293918.1:p.Thr305Ala, XP_047293927.1:p.Thr289Pro, XP_047293927.1:p.Thr289Ala, XP_047293919.1:p.Thr305Pro, XP_047293919.1:p.Thr305Ala, XP_047293924.1:p.Thr289Pro, XP_047293924.1:p.Thr289Ala

                8.

                rs1482855453 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  18:48761501 (GRCh38)
                  18:46287872 (GRCh37)
                  Canonical SPDI:
                  NC_000018.10:48761500:A:G
                  Gene:
                  CTIF (Varview), LOC107985147 (Varview)
                  Functional Consequence:
                  missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                  Validated:
                  by frequency
                  MAF:
                  G=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000018.10:g.48761501A>G, NC_000018.9:g.46287872A>G, NW_013171814.1:g.250771A>G, XM_006722588.5:c.1189A>G, XM_006722588.4:c.1189A>G, XM_006722588.3:c.1189A>G, XM_006722588.2:c.1189A>G, XM_006722588.1:c.1189A>G, XM_005258392.5:c.1237A>G, XM_005258392.4:c.1237A>G, XM_005258392.3:c.1237A>G, XM_005258392.2:c.1237A>G, XM_005258392.1:c.1237A>G, XM_006722586.4:c.1231A>G, XM_006722586.3:c.1231A>G, XM_006722586.2:c.1231A>G, XM_006722586.1:c.1231A>G, XM_006722583.4:c.1237A>G, XM_006722583.3:c.1237A>G, XM_006722583.2:c.1237A>G, XM_006722583.1:c.1237A>G, XM_006722587.4:c.1189A>G, XM_006722587.3:c.1189A>G, XM_006722587.2:c.1189A>G, XM_006722587.1:c.1189A>G, XM_011526278.4:c.1114A>G, XM_011526278.3:c.1114A>G, XM_011526278.2:c.1114A>G, XM_011526278.1:c.1114A>G, XM_011526279.3:c.1183A>G, XM_011526279.2:c.1183A>G, XM_011526279.1:c.1183A>G, NM_014772.3:c.1183A>G, NM_014772.2:c.1183A>G, XM_017026101.2:c.1237A>G, XM_017026101.1:c.1237A>G, XM_017026100.2:c.1237A>G, XM_017026100.1:c.1237A>G, NM_001142397.2:c.1189A>G, NM_001142397.1:c.1189A>G, XM_017026102.2:c.1189A>G, XM_017026102.1:c.1189A>G, XM_047437960.1:c.1237A>G, XM_047437965.1:c.1189A>G, XM_047437961.1:c.1237A>G, XM_047437964.1:c.1231A>G, XM_047437967.1:c.1189A>G, XM_047437970.1:c.1183A>G, XM_047437966.1:c.1189A>G, XM_047437969.1:c.1183A>G, XM_047437962.1:c.1237A>G, XM_047437971.1:c.1183A>G, XM_047437963.1:c.1231A>G, XM_047437968.1:c.1183A>G, XP_006722651.1:p.Thr397Ala, XP_005258449.1:p.Thr413Ala, XP_006722649.1:p.Thr411Ala, XP_006722646.1:p.Thr413Ala, XP_006722650.1:p.Thr397Ala, XP_011524580.1:p.Thr372Ala, XP_011524581.1:p.Thr395Ala, NP_055587.1:p.Thr395Ala, XP_016881590.1:p.Thr413Ala, XP_016881589.1:p.Thr413Ala, NP_001135869.1:p.Thr397Ala, XP_016881591.1:p.Thr397Ala, XP_047293916.1:p.Thr413Ala, XP_047293921.1:p.Thr397Ala, XP_047293917.1:p.Thr413Ala, XP_047293920.1:p.Thr411Ala, XP_047293923.1:p.Thr397Ala, XP_047293926.1:p.Thr395Ala, XP_047293922.1:p.Thr397Ala, XP_047293925.1:p.Thr395Ala, XP_047293918.1:p.Thr413Ala, XP_047293927.1:p.Thr395Ala, XP_047293919.1:p.Thr411Ala, XP_047293924.1:p.Thr395Ala

                  9.

                  rs1482357687 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    18:48859346 (GRCh38)
                    18:46385717 (GRCh37)
                    Canonical SPDI:
                    NC_000018.10:48859345:G:T
                    Gene:
                    CTIF (Varview)
                    Functional Consequence:
                    synonymous_variant,coding_sequence_variant
                    HGVS:
                    NC_000018.10:g.48859346G>T, NC_000018.9:g.46385717G>T, NW_013171814.1:g.348616G>T, XM_006722588.5:c.1590G>T, XM_006722588.4:c.1590G>T, XM_006722588.3:c.1590G>T, XM_006722588.2:c.1590G>T, XM_006722588.1:c.1590G>T, XM_005258392.5:c.1638G>T, XM_005258392.4:c.1638G>T, XM_005258392.3:c.1638G>T, XM_005258392.2:c.1638G>T, XM_005258392.1:c.1638G>T, XM_006722586.4:c.1632G>T, XM_006722586.3:c.1632G>T, XM_006722586.2:c.1632G>T, XM_006722586.1:c.1632G>T, XM_006722583.4:c.1638G>T, XM_006722583.3:c.1638G>T, XM_006722583.2:c.1638G>T, XM_006722583.1:c.1638G>T, XM_006722587.4:c.1590G>T, XM_006722587.3:c.1590G>T, XM_006722587.2:c.1590G>T, XM_006722587.1:c.1590G>T, XM_011526278.4:c.1515G>T, XM_011526278.3:c.1515G>T, XM_011526278.2:c.1515G>T, XM_011526278.1:c.1515G>T, XM_011526279.3:c.1584G>T, XM_011526279.2:c.1584G>T, XM_011526279.1:c.1584G>T, NM_014772.3:c.1584G>T, NM_014772.2:c.1584G>T, XM_017026101.2:c.1638G>T, XM_017026101.1:c.1638G>T, XM_017026100.2:c.1638G>T, XM_017026100.1:c.1638G>T, NM_001142397.2:c.1590G>T, NM_001142397.1:c.1590G>T, XM_017026102.2:c.1590G>T, XM_017026102.1:c.1590G>T, XM_047437960.1:c.1638G>T, XM_047437961.1:c.1638G>T, XM_047437964.1:c.1632G>T, XM_047437967.1:c.1590G>T, XM_047437970.1:c.1584G>T, XM_047437966.1:c.1590G>T, XM_047437962.1:c.1638G>T, XM_047437971.1:c.1584G>T, XM_047437963.1:c.1632G>T, XM_047437968.1:c.1584G>T, XM_047437969.1:c.1584G>T, XM_047437965.1:c.1590G>T

                    10.

                    rs1482042129 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      18:48619643 (GRCh38)
                      18:46146014 (GRCh37)
                      Canonical SPDI:
                      NC_000018.10:48619642:C:T
                      Gene:
                      CTIF (Varview)
                      Functional Consequence:
                      synonymous_variant,coding_sequence_variant,genic_upstream_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_000018.10:g.48619643C>T, NC_000018.9:g.46146014C>T, NW_013171814.1:g.104661C>T, XM_006722588.5:c.78C>T, XM_006722588.4:c.78C>T, XM_006722588.3:c.78C>T, XM_006722588.2:c.78C>T, XM_006722588.1:c.78C>T, XM_005258392.5:c.78C>T, XM_005258392.4:c.78C>T, XM_005258392.3:c.78C>T, XM_005258392.2:c.78C>T, XM_005258392.1:c.78C>T, XM_006722586.4:c.78C>T, XM_006722586.3:c.78C>T, XM_006722586.2:c.78C>T, XM_006722586.1:c.78C>T, XM_006722583.4:c.78C>T, XM_006722583.3:c.78C>T, XM_006722583.2:c.78C>T, XM_006722583.1:c.78C>T, XM_006722587.4:c.78C>T, XM_006722587.3:c.78C>T, XM_006722587.2:c.78C>T, XM_006722587.1:c.78C>T, XM_011526279.3:c.78C>T, XM_011526279.2:c.78C>T, XM_011526279.1:c.78C>T, NM_014772.3:c.78C>T, NM_014772.2:c.78C>T, XM_017026101.2:c.78C>T, XM_017026101.1:c.78C>T, XM_017026100.2:c.78C>T, XM_017026100.1:c.78C>T, NM_001142397.2:c.78C>T, NM_001142397.1:c.78C>T, XM_017026102.2:c.78C>T, XM_017026102.1:c.78C>T, XM_047437960.1:c.78C>T, XM_047437961.1:c.78C>T, XM_047437964.1:c.78C>T, XM_047437967.1:c.78C>T, XM_047437970.1:c.78C>T, XM_047437966.1:c.78C>T, XM_047437962.1:c.78C>T, XM_047437971.1:c.78C>T, XM_047437963.1:c.78C>T, XM_047437968.1:c.78C>T, XM_047437965.1:c.78C>T, XM_047437969.1:c.78C>T

                      11.

                      rs1481348704 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        18:48859469 (GRCh38)
                        18:46385840 (GRCh37)
                        Canonical SPDI:
                        NC_000018.10:48859468:G:A
                        Gene:
                        CTIF (Varview)
                        Functional Consequence:
                        synonymous_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000018.10:g.48859469G>A, NC_000018.9:g.46385840G>A, NW_013171814.1:g.348739G>A, XM_006722588.5:c.1713G>A, XM_006722588.4:c.1713G>A, XM_006722588.3:c.1713G>A, XM_006722588.2:c.1713G>A, XM_006722588.1:c.1713G>A, XM_005258392.5:c.1761G>A, XM_005258392.4:c.1761G>A, XM_005258392.3:c.1761G>A, XM_005258392.2:c.1761G>A, XM_005258392.1:c.1761G>A, XM_006722586.4:c.1755G>A, XM_006722586.3:c.1755G>A, XM_006722586.2:c.1755G>A, XM_006722586.1:c.1755G>A, XM_006722583.4:c.1761G>A, XM_006722583.3:c.1761G>A, XM_006722583.2:c.1761G>A, XM_006722583.1:c.1761G>A, XM_006722587.4:c.1713G>A, XM_006722587.3:c.1713G>A, XM_006722587.2:c.1713G>A, XM_006722587.1:c.1713G>A, XM_011526278.4:c.1638G>A, XM_011526278.3:c.1638G>A, XM_011526278.2:c.1638G>A, XM_011526278.1:c.1638G>A, XM_011526279.3:c.1707G>A, XM_011526279.2:c.1707G>A, XM_011526279.1:c.1707G>A, NM_014772.3:c.1707G>A, NM_014772.2:c.1707G>A, XM_017026101.2:c.1761G>A, XM_017026101.1:c.1761G>A, XM_017026100.2:c.1761G>A, XM_017026100.1:c.1761G>A, NM_001142397.2:c.1713G>A, NM_001142397.1:c.1713G>A, XM_017026102.2:c.1713G>A, XM_017026102.1:c.1713G>A, XM_047437960.1:c.1761G>A, XM_047437961.1:c.1761G>A, XM_047437964.1:c.1755G>A, XM_047437967.1:c.1713G>A, XM_047437970.1:c.1707G>A, XM_047437966.1:c.1713G>A, XM_047437962.1:c.1761G>A, XM_047437971.1:c.1707G>A, XM_047437963.1:c.1755G>A, XM_047437968.1:c.1707G>A, XM_047437969.1:c.1707G>A, XM_047437965.1:c.1713G>A

                        12.

                        rs1479269322 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          18:48711630 (GRCh38)
                          18:46238001 (GRCh37)
                          Canonical SPDI:
                          NC_000018.10:48711629:G:A
                          Gene:
                          CTIF (Varview)
                          Functional Consequence:
                          synonymous_variant,coding_sequence_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0.000056/2 (ALFA)
                          A=0.000012/3 (GnomAD_exomes)
                          A=0.000021/3 (GnomAD)
                          A=0.000035/1 (TOMMO)
                          A=0.000049/13 (TOPMED)
                          HGVS:
                          NC_000018.10:g.48711630G>A, NC_000018.9:g.46238001G>A, NW_013171814.1:g.200900G>A, XM_006722588.5:c.519G>A, XM_006722588.4:c.519G>A, XM_006722588.3:c.519G>A, XM_006722588.2:c.519G>A, XM_006722588.1:c.519G>A, XM_005258392.5:c.567G>A, XM_005258392.4:c.567G>A, XM_005258392.3:c.567G>A, XM_005258392.2:c.567G>A, XM_005258392.1:c.567G>A, XM_006722586.4:c.567G>A, XM_006722586.3:c.567G>A, XM_006722586.2:c.567G>A, XM_006722586.1:c.567G>A, XM_006722583.4:c.567G>A, XM_006722583.3:c.567G>A, XM_006722583.2:c.567G>A, XM_006722583.1:c.567G>A, XM_006722587.4:c.519G>A, XM_006722587.3:c.519G>A, XM_006722587.2:c.519G>A, XM_006722587.1:c.519G>A, XM_011526278.4:c.444G>A, XM_011526278.3:c.444G>A, XM_011526278.2:c.444G>A, XM_011526278.1:c.444G>A, XM_011526279.3:c.519G>A, XM_011526279.2:c.519G>A, XM_011526279.1:c.519G>A, NM_014772.3:c.519G>A, NM_014772.2:c.519G>A, XM_017026101.2:c.567G>A, XM_017026101.1:c.567G>A, XM_017026100.2:c.567G>A, XM_017026100.1:c.567G>A, NM_001142397.2:c.519G>A, NM_001142397.1:c.519G>A, XM_017026102.2:c.519G>A, XM_017026102.1:c.519G>A, XM_047437960.1:c.567G>A, XM_047437965.1:c.519G>A, XM_047437961.1:c.567G>A, XM_047437964.1:c.567G>A, XM_047437967.1:c.519G>A, XM_047437970.1:c.519G>A, XM_047437966.1:c.519G>A, XM_047437969.1:c.519G>A, XM_047437962.1:c.567G>A, XM_047437971.1:c.519G>A, XM_047437963.1:c.567G>A, XM_047437968.1:c.519G>A

                          13.

                          rs1479132492 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            18:48636641 (GRCh38)
                            18:46163012 (GRCh37)
                            Canonical SPDI:
                            NC_000018.10:48636640:G:A
                            Gene:
                            CTIF (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000029/1 (ALFA)
                            A=0.000019/5 (TOPMED)
                            HGVS:
                            NC_000018.10:g.48636641G>A, NC_000018.9:g.46163012G>A, NW_013171814.1:g.121667G>A, XM_006722588.5:c.208G>A, XM_006722588.4:c.208G>A, XM_006722588.3:c.208G>A, XM_006722588.2:c.208G>A, XM_006722588.1:c.208G>A, XM_005258392.5:c.256G>A, XM_005258392.4:c.256G>A, XM_005258392.3:c.256G>A, XM_005258392.2:c.256G>A, XM_005258392.1:c.256G>A, XM_006722586.4:c.256G>A, XM_006722586.3:c.256G>A, XM_006722586.2:c.256G>A, XM_006722586.1:c.256G>A, XM_006722583.4:c.256G>A, XM_006722583.3:c.256G>A, XM_006722583.2:c.256G>A, XM_006722583.1:c.256G>A, XM_006722587.4:c.208G>A, XM_006722587.3:c.208G>A, XM_006722587.2:c.208G>A, XM_006722587.1:c.208G>A, XM_011526279.3:c.208G>A, XM_011526279.2:c.208G>A, XM_011526279.1:c.208G>A, NM_014772.3:c.208G>A, NM_014772.2:c.208G>A, XM_017026101.2:c.256G>A, XM_017026101.1:c.256G>A, XM_017026100.2:c.256G>A, XM_017026100.1:c.256G>A, NM_001142397.2:c.208G>A, NM_001142397.1:c.208G>A, XM_017026102.2:c.208G>A, XM_017026102.1:c.208G>A, XM_047437960.1:c.256G>A, XM_047437961.1:c.256G>A, XM_047437964.1:c.256G>A, XM_047437967.1:c.208G>A, XM_047437970.1:c.208G>A, XM_047437966.1:c.208G>A, XM_047437969.1:c.208G>A, XM_047437962.1:c.256G>A, XM_047437971.1:c.208G>A, XM_047437963.1:c.256G>A, XM_047437968.1:c.208G>A, XM_047437965.1:c.208G>A, XP_006722651.1:p.Asp70Asn, XP_005258449.1:p.Asp86Asn, XP_006722649.1:p.Asp86Asn, XP_006722646.1:p.Asp86Asn, XP_006722650.1:p.Asp70Asn, XP_011524581.1:p.Asp70Asn, NP_055587.1:p.Asp70Asn, XP_016881590.1:p.Asp86Asn, XP_016881589.1:p.Asp86Asn, NP_001135869.1:p.Asp70Asn, XP_016881591.1:p.Asp70Asn, XP_047293916.1:p.Asp86Asn, XP_047293917.1:p.Asp86Asn, XP_047293920.1:p.Asp86Asn, XP_047293923.1:p.Asp70Asn, XP_047293926.1:p.Asp70Asn, XP_047293922.1:p.Asp70Asn, XP_047293925.1:p.Asp70Asn, XP_047293918.1:p.Asp86Asn, XP_047293927.1:p.Asp70Asn, XP_047293919.1:p.Asp86Asn, XP_047293924.1:p.Asp70Asn, XP_047293921.1:p.Asp70Asn

                            14.

                            rs1478239725 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              18:48817264 (GRCh38)
                              18:46343635 (GRCh37)
                              Canonical SPDI:
                              NC_000018.10:48817263:A:G
                              Gene:
                              CTIF (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000018.10:g.48817264A>G, NC_000018.9:g.46343635A>G, NW_013171814.1:g.306534A>G, XM_006722588.5:c.1421A>G, XM_006722588.4:c.1421A>G, XM_006722588.3:c.1421A>G, XM_006722588.2:c.1421A>G, XM_006722588.1:c.1421A>G, XM_005258392.5:c.1469A>G, XM_005258392.4:c.1469A>G, XM_005258392.3:c.1469A>G, XM_005258392.2:c.1469A>G, XM_005258392.1:c.1469A>G, XM_006722586.4:c.1463A>G, XM_006722586.3:c.1463A>G, XM_006722586.2:c.1463A>G, XM_006722586.1:c.1463A>G, XM_006722583.4:c.1469A>G, XM_006722583.3:c.1469A>G, XM_006722583.2:c.1469A>G, XM_006722583.1:c.1469A>G, XM_006722587.4:c.1421A>G, XM_006722587.3:c.1421A>G, XM_006722587.2:c.1421A>G, XM_006722587.1:c.1421A>G, XM_011526278.4:c.1346A>G, XM_011526278.3:c.1346A>G, XM_011526278.2:c.1346A>G, XM_011526278.1:c.1346A>G, XM_011526279.3:c.1415A>G, XM_011526279.2:c.1415A>G, XM_011526279.1:c.1415A>G, NM_014772.3:c.1415A>G, NM_014772.2:c.1415A>G, XM_017026101.2:c.1469A>G, XM_017026101.1:c.1469A>G, XM_017026100.2:c.1469A>G, XM_017026100.1:c.1469A>G, NM_001142397.2:c.1421A>G, NM_001142397.1:c.1421A>G, XM_017026102.2:c.1421A>G, XM_017026102.1:c.1421A>G, XM_047437960.1:c.1469A>G, XM_047437961.1:c.1469A>G, XM_047437964.1:c.1463A>G, XM_047437967.1:c.1421A>G, XM_047437970.1:c.1415A>G, XM_047437966.1:c.1421A>G, XM_047437962.1:c.1469A>G, XM_047437971.1:c.1415A>G, XM_047437963.1:c.1463A>G, XM_047437968.1:c.1415A>G, XM_047437969.1:c.1415A>G, XM_047437965.1:c.1421A>G, XP_006722651.1:p.Glu474Gly, XP_005258449.1:p.Glu490Gly, XP_006722649.1:p.Glu488Gly, XP_006722646.1:p.Glu490Gly, XP_006722650.1:p.Glu474Gly, XP_011524580.1:p.Glu449Gly, XP_011524581.1:p.Glu472Gly, NP_055587.1:p.Glu472Gly, XP_016881590.1:p.Glu490Gly, XP_016881589.1:p.Glu490Gly, NP_001135869.1:p.Glu474Gly, XP_016881591.1:p.Glu474Gly, XP_047293916.1:p.Glu490Gly, XP_047293917.1:p.Glu490Gly, XP_047293920.1:p.Glu488Gly, XP_047293923.1:p.Glu474Gly, XP_047293926.1:p.Glu472Gly, XP_047293922.1:p.Glu474Gly, XP_047293918.1:p.Glu490Gly, XP_047293927.1:p.Glu472Gly, XP_047293919.1:p.Glu488Gly, XP_047293924.1:p.Glu472Gly, XP_047293925.1:p.Glu472Gly, XP_047293921.1:p.Glu474Gly

                              15.

                              rs1476789304 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>G [Show Flanks]
                                Chromosome:
                                18:48663754 (GRCh38)
                                18:46190125 (GRCh37)
                                Canonical SPDI:
                                NC_000018.10:48663753:T:G
                                Gene:
                                CTIF (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000018.10:g.48663754T>G, NC_000018.9:g.46190125T>G, NW_013171814.1:g.148798T>G, XM_006722588.5:c.255T>G, XM_006722588.4:c.255T>G, XM_006722588.3:c.255T>G, XM_006722588.2:c.255T>G, XM_006722588.1:c.255T>G, XM_005258392.5:c.303T>G, XM_005258392.4:c.303T>G, XM_005258392.3:c.303T>G, XM_005258392.2:c.303T>G, XM_005258392.1:c.303T>G, XM_006722586.4:c.303T>G, XM_006722586.3:c.303T>G, XM_006722586.2:c.303T>G, XM_006722586.1:c.303T>G, XM_006722583.4:c.303T>G, XM_006722583.3:c.303T>G, XM_006722583.2:c.303T>G, XM_006722583.1:c.303T>G, XM_006722587.4:c.255T>G, XM_006722587.3:c.255T>G, XM_006722587.2:c.255T>G, XM_006722587.1:c.255T>G, XM_011526278.4:c.180T>G, XM_011526278.3:c.180T>G, XM_011526278.2:c.180T>G, XM_011526278.1:c.180T>G, XM_011526279.3:c.255T>G, XM_011526279.2:c.255T>G, XM_011526279.1:c.255T>G, NM_014772.3:c.255T>G, NM_014772.2:c.255T>G, XM_017026101.2:c.303T>G, XM_017026101.1:c.303T>G, XM_017026100.2:c.303T>G, XM_017026100.1:c.303T>G, NM_001142397.2:c.255T>G, NM_001142397.1:c.255T>G, XM_017026102.2:c.255T>G, XM_017026102.1:c.255T>G, XM_047437960.1:c.303T>G, XM_047437961.1:c.303T>G, XM_047437964.1:c.303T>G, XM_047437967.1:c.255T>G, XM_047437970.1:c.255T>G, XM_047437966.1:c.255T>G, XM_047437962.1:c.303T>G, XM_047437971.1:c.255T>G, XM_047437963.1:c.303T>G, XM_047437968.1:c.255T>G, XM_047437969.1:c.255T>G, XM_047437965.1:c.255T>G, XP_006722651.1:p.Asn85Lys, XP_005258449.1:p.Asn101Lys, XP_006722649.1:p.Asn101Lys, XP_006722646.1:p.Asn101Lys, XP_006722650.1:p.Asn85Lys, XP_011524580.1:p.Asn60Lys, XP_011524581.1:p.Asn85Lys, NP_055587.1:p.Asn85Lys, XP_016881590.1:p.Asn101Lys, XP_016881589.1:p.Asn101Lys, NP_001135869.1:p.Asn85Lys, XP_016881591.1:p.Asn85Lys, XP_047293916.1:p.Asn101Lys, XP_047293917.1:p.Asn101Lys, XP_047293920.1:p.Asn101Lys, XP_047293923.1:p.Asn85Lys, XP_047293926.1:p.Asn85Lys, XP_047293922.1:p.Asn85Lys, XP_047293918.1:p.Asn101Lys, XP_047293927.1:p.Asn85Lys, XP_047293919.1:p.Asn101Lys, XP_047293924.1:p.Asn85Lys, XP_047293925.1:p.Asn85Lys, XP_047293921.1:p.Asn85Lys

                                16.

                                rs1475570464 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  18:48761628 (GRCh38)
                                  18:46287999 (GRCh37)
                                  Canonical SPDI:
                                  NC_000018.10:48761627:A:G
                                  Gene:
                                  CTIF (Varview), LOC107985147 (Varview)
                                  Functional Consequence:
                                  missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (TOPMED)
                                  G=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000018.10:g.48761628A>G, NC_000018.9:g.46287999A>G, NW_013171814.1:g.250898A>G, XM_006722588.5:c.1316A>G, XM_006722588.4:c.1316A>G, XM_006722588.3:c.1316A>G, XM_006722588.2:c.1316A>G, XM_006722588.1:c.1316A>G, XM_005258392.5:c.1364A>G, XM_005258392.4:c.1364A>G, XM_005258392.3:c.1364A>G, XM_005258392.2:c.1364A>G, XM_005258392.1:c.1364A>G, XM_006722586.4:c.1358A>G, XM_006722586.3:c.1358A>G, XM_006722586.2:c.1358A>G, XM_006722586.1:c.1358A>G, XM_006722583.4:c.1364A>G, XM_006722583.3:c.1364A>G, XM_006722583.2:c.1364A>G, XM_006722583.1:c.1364A>G, XM_006722587.4:c.1316A>G, XM_006722587.3:c.1316A>G, XM_006722587.2:c.1316A>G, XM_006722587.1:c.1316A>G, XM_011526278.4:c.1241A>G, XM_011526278.3:c.1241A>G, XM_011526278.2:c.1241A>G, XM_011526278.1:c.1241A>G, XM_011526279.3:c.1310A>G, XM_011526279.2:c.1310A>G, XM_011526279.1:c.1310A>G, NM_014772.3:c.1310A>G, NM_014772.2:c.1310A>G, XM_017026101.2:c.1364A>G, XM_017026101.1:c.1364A>G, XM_017026100.2:c.1364A>G, XM_017026100.1:c.1364A>G, NM_001142397.2:c.1316A>G, NM_001142397.1:c.1316A>G, XM_017026102.2:c.1316A>G, XM_017026102.1:c.1316A>G, XM_047437960.1:c.1364A>G, XM_047437961.1:c.1364A>G, XM_047437964.1:c.1358A>G, XM_047437967.1:c.1316A>G, XM_047437970.1:c.1310A>G, XM_047437966.1:c.1316A>G, XM_047437962.1:c.1364A>G, XM_047437971.1:c.1310A>G, XM_047437963.1:c.1358A>G, XM_047437968.1:c.1310A>G, XM_047437969.1:c.1310A>G, XM_047437965.1:c.1316A>G, XP_006722651.1:p.Lys439Arg, XP_005258449.1:p.Lys455Arg, XP_006722649.1:p.Lys453Arg, XP_006722646.1:p.Lys455Arg, XP_006722650.1:p.Lys439Arg, XP_011524580.1:p.Lys414Arg, XP_011524581.1:p.Lys437Arg, NP_055587.1:p.Lys437Arg, XP_016881590.1:p.Lys455Arg, XP_016881589.1:p.Lys455Arg, NP_001135869.1:p.Lys439Arg, XP_016881591.1:p.Lys439Arg, XP_047293916.1:p.Lys455Arg, XP_047293917.1:p.Lys455Arg, XP_047293920.1:p.Lys453Arg, XP_047293923.1:p.Lys439Arg, XP_047293926.1:p.Lys437Arg, XP_047293922.1:p.Lys439Arg, XP_047293918.1:p.Lys455Arg, XP_047293927.1:p.Lys437Arg, XP_047293919.1:p.Lys453Arg, XP_047293924.1:p.Lys437Arg, XP_047293925.1:p.Lys437Arg, XP_047293921.1:p.Lys439Arg

                                  17.

                                  rs1474892916 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>G [Show Flanks]
                                    Chromosome:
                                    18:48758373 (GRCh38)
                                    18:46284744 (GRCh37)
                                    Canonical SPDI:
                                    NC_000018.10:48758372:A:G
                                    Gene:
                                    CTIF (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    G=0.000071/1 (ALFA)
                                    G=0.000004/1 (GnomAD_exomes)
                                    G=0.000007/1 (GnomAD)
                                    G=0.000008/2 (TOPMED)
                                    HGVS:
                                    NC_000018.10:g.48758373A>G, NC_000018.9:g.46284744A>G, NW_013171814.1:g.247643A>G, XM_006722588.5:c.1039A>G, XM_006722588.4:c.1039A>G, XM_006722588.3:c.1039A>G, XM_006722588.2:c.1039A>G, XM_006722588.1:c.1039A>G, XM_005258392.5:c.1087A>G, XM_005258392.4:c.1087A>G, XM_005258392.3:c.1087A>G, XM_005258392.2:c.1087A>G, XM_005258392.1:c.1087A>G, XM_006722586.4:c.1087A>G, XM_006722586.3:c.1087A>G, XM_006722586.2:c.1087A>G, XM_006722586.1:c.1087A>G, XM_006722583.4:c.1087A>G, XM_006722583.3:c.1087A>G, XM_006722583.2:c.1087A>G, XM_006722583.1:c.1087A>G, XM_006722587.4:c.1039A>G, XM_006722587.3:c.1039A>G, XM_006722587.2:c.1039A>G, XM_006722587.1:c.1039A>G, XM_011526278.4:c.964A>G, XM_011526278.3:c.964A>G, XM_011526278.2:c.964A>G, XM_011526278.1:c.964A>G, XM_011526279.3:c.1039A>G, XM_011526279.2:c.1039A>G, XM_011526279.1:c.1039A>G, NM_014772.3:c.1039A>G, NM_014772.2:c.1039A>G, XM_017026101.2:c.1087A>G, XM_017026101.1:c.1087A>G, XM_017026100.2:c.1087A>G, XM_017026100.1:c.1087A>G, NM_001142397.2:c.1039A>G, NM_001142397.1:c.1039A>G, XM_017026102.2:c.1039A>G, XM_017026102.1:c.1039A>G, XM_047437960.1:c.1087A>G, XM_047437965.1:c.1039A>G, XM_047437961.1:c.1087A>G, XM_047437964.1:c.1087A>G, XM_047437967.1:c.1039A>G, XM_047437970.1:c.1039A>G, XM_047437966.1:c.1039A>G, XM_047437969.1:c.1039A>G, XM_047437962.1:c.1087A>G, XM_047437971.1:c.1039A>G, XM_047437963.1:c.1087A>G, XM_047437968.1:c.1039A>G, XP_006722651.1:p.Lys347Glu, XP_005258449.1:p.Lys363Glu, XP_006722649.1:p.Lys363Glu, XP_006722646.1:p.Lys363Glu, XP_006722650.1:p.Lys347Glu, XP_011524580.1:p.Lys322Glu, XP_011524581.1:p.Lys347Glu, NP_055587.1:p.Lys347Glu, XP_016881590.1:p.Lys363Glu, XP_016881589.1:p.Lys363Glu, NP_001135869.1:p.Lys347Glu, XP_016881591.1:p.Lys347Glu, XP_047293916.1:p.Lys363Glu, XP_047293921.1:p.Lys347Glu, XP_047293917.1:p.Lys363Glu, XP_047293920.1:p.Lys363Glu, XP_047293923.1:p.Lys347Glu, XP_047293926.1:p.Lys347Glu, XP_047293922.1:p.Lys347Glu, XP_047293925.1:p.Lys347Glu, XP_047293918.1:p.Lys363Glu, XP_047293927.1:p.Lys347Glu, XP_047293919.1:p.Lys363Glu, XP_047293924.1:p.Lys347Glu

                                    18.

                                    rs1470735896 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      18:48758367 (GRCh38)
                                      18:46284738 (GRCh37)
                                      Canonical SPDI:
                                      NC_000018.10:48758366:T:C
                                      Gene:
                                      CTIF (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by cluster
                                      MAF:
                                      C=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000018.10:g.48758367T>C, NC_000018.9:g.46284738T>C, NW_013171814.1:g.247637T>C, XM_006722588.5:c.1033T>C, XM_006722588.4:c.1033T>C, XM_006722588.3:c.1033T>C, XM_006722588.2:c.1033T>C, XM_006722588.1:c.1033T>C, XM_005258392.5:c.1081T>C, XM_005258392.4:c.1081T>C, XM_005258392.3:c.1081T>C, XM_005258392.2:c.1081T>C, XM_005258392.1:c.1081T>C, XM_006722586.4:c.1081T>C, XM_006722586.3:c.1081T>C, XM_006722586.2:c.1081T>C, XM_006722586.1:c.1081T>C, XM_006722583.4:c.1081T>C, XM_006722583.3:c.1081T>C, XM_006722583.2:c.1081T>C, XM_006722583.1:c.1081T>C, XM_006722587.4:c.1033T>C, XM_006722587.3:c.1033T>C, XM_006722587.2:c.1033T>C, XM_006722587.1:c.1033T>C, XM_011526278.4:c.958T>C, XM_011526278.3:c.958T>C, XM_011526278.2:c.958T>C, XM_011526278.1:c.958T>C, XM_011526279.3:c.1033T>C, XM_011526279.2:c.1033T>C, XM_011526279.1:c.1033T>C, NM_014772.3:c.1033T>C, NM_014772.2:c.1033T>C, XM_017026101.2:c.1081T>C, XM_017026101.1:c.1081T>C, XM_017026100.2:c.1081T>C, XM_017026100.1:c.1081T>C, NM_001142397.2:c.1033T>C, NM_001142397.1:c.1033T>C, XM_017026102.2:c.1033T>C, XM_017026102.1:c.1033T>C, XM_047437960.1:c.1081T>C, XM_047437965.1:c.1033T>C, XM_047437961.1:c.1081T>C, XM_047437964.1:c.1081T>C, XM_047437967.1:c.1033T>C, XM_047437970.1:c.1033T>C, XM_047437966.1:c.1033T>C, XM_047437969.1:c.1033T>C, XM_047437962.1:c.1081T>C, XM_047437971.1:c.1033T>C, XM_047437963.1:c.1081T>C, XM_047437968.1:c.1033T>C, XP_006722651.1:p.Ser345Pro, XP_005258449.1:p.Ser361Pro, XP_006722649.1:p.Ser361Pro, XP_006722646.1:p.Ser361Pro, XP_006722650.1:p.Ser345Pro, XP_011524580.1:p.Ser320Pro, XP_011524581.1:p.Ser345Pro, NP_055587.1:p.Ser345Pro, XP_016881590.1:p.Ser361Pro, XP_016881589.1:p.Ser361Pro, NP_001135869.1:p.Ser345Pro, XP_016881591.1:p.Ser345Pro, XP_047293916.1:p.Ser361Pro, XP_047293921.1:p.Ser345Pro, XP_047293917.1:p.Ser361Pro, XP_047293920.1:p.Ser361Pro, XP_047293923.1:p.Ser345Pro, XP_047293926.1:p.Ser345Pro, XP_047293922.1:p.Ser345Pro, XP_047293925.1:p.Ser345Pro, XP_047293918.1:p.Ser361Pro, XP_047293927.1:p.Ser345Pro, XP_047293919.1:p.Ser361Pro, XP_047293924.1:p.Ser345Pro

                                      19.

                                      rs1470232631 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>G [Show Flanks]
                                        Chromosome:
                                        18:48711660 (GRCh38)
                                        18:46238031 (GRCh37)
                                        Canonical SPDI:
                                        NC_000018.10:48711659:C:G
                                        Gene:
                                        CTIF (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000018.10:g.48711660C>G, NC_000018.9:g.46238031C>G, NW_013171814.1:g.200930C>G, XM_006722588.5:c.549C>G, XM_006722588.4:c.549C>G, XM_006722588.3:c.549C>G, XM_006722588.2:c.549C>G, XM_006722588.1:c.549C>G, XM_005258392.5:c.597C>G, XM_005258392.4:c.597C>G, XM_005258392.3:c.597C>G, XM_005258392.2:c.597C>G, XM_005258392.1:c.597C>G, XM_006722586.4:c.597C>G, XM_006722586.3:c.597C>G, XM_006722586.2:c.597C>G, XM_006722586.1:c.597C>G, XM_006722583.4:c.597C>G, XM_006722583.3:c.597C>G, XM_006722583.2:c.597C>G, XM_006722583.1:c.597C>G, XM_006722587.4:c.549C>G, XM_006722587.3:c.549C>G, XM_006722587.2:c.549C>G, XM_006722587.1:c.549C>G, XM_011526278.4:c.474C>G, XM_011526278.3:c.474C>G, XM_011526278.2:c.474C>G, XM_011526278.1:c.474C>G, XM_011526279.3:c.549C>G, XM_011526279.2:c.549C>G, XM_011526279.1:c.549C>G, NM_014772.3:c.549C>G, NM_014772.2:c.549C>G, XM_017026101.2:c.597C>G, XM_017026101.1:c.597C>G, XM_017026100.2:c.597C>G, XM_017026100.1:c.597C>G, NM_001142397.2:c.549C>G, NM_001142397.1:c.549C>G, XM_017026102.2:c.549C>G, XM_017026102.1:c.549C>G, XM_047437960.1:c.597C>G, XM_047437961.1:c.597C>G, XM_047437964.1:c.597C>G, XM_047437967.1:c.549C>G, XM_047437970.1:c.549C>G, XM_047437966.1:c.549C>G, XM_047437962.1:c.597C>G, XM_047437971.1:c.549C>G, XM_047437963.1:c.597C>G, XM_047437968.1:c.549C>G, XM_047437969.1:c.549C>G, XM_047437965.1:c.549C>G

                                        20.

                                        rs1469673727 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          18:48758155 (GRCh38)
                                          18:46284526 (GRCh37)
                                          Canonical SPDI:
                                          NC_000018.10:48758154:C:T
                                          Gene:
                                          CTIF (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          T=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000018.10:g.48758155C>T, NC_000018.9:g.46284526C>T, NW_013171814.1:g.247425C>T, XM_006722588.5:c.821C>T, XM_006722588.4:c.821C>T, XM_006722588.3:c.821C>T, XM_006722588.2:c.821C>T, XM_006722588.1:c.821C>T, XM_005258392.5:c.869C>T, XM_005258392.4:c.869C>T, XM_005258392.3:c.869C>T, XM_005258392.2:c.869C>T, XM_005258392.1:c.869C>T, XM_006722586.4:c.869C>T, XM_006722586.3:c.869C>T, XM_006722586.2:c.869C>T, XM_006722586.1:c.869C>T, XM_006722583.4:c.869C>T, XM_006722583.3:c.869C>T, XM_006722583.2:c.869C>T, XM_006722583.1:c.869C>T, XM_006722587.4:c.821C>T, XM_006722587.3:c.821C>T, XM_006722587.2:c.821C>T, XM_006722587.1:c.821C>T, XM_011526278.4:c.746C>T, XM_011526278.3:c.746C>T, XM_011526278.2:c.746C>T, XM_011526278.1:c.746C>T, XM_011526279.3:c.821C>T, XM_011526279.2:c.821C>T, XM_011526279.1:c.821C>T, NM_014772.3:c.821C>T, NM_014772.2:c.821C>T, XM_017026101.2:c.869C>T, XM_017026101.1:c.869C>T, XM_017026100.2:c.869C>T, XM_017026100.1:c.869C>T, NM_001142397.2:c.821C>T, NM_001142397.1:c.821C>T, XM_017026102.2:c.821C>T, XM_017026102.1:c.821C>T, XM_047437960.1:c.869C>T, XM_047437965.1:c.821C>T, XM_047437961.1:c.869C>T, XM_047437964.1:c.869C>T, XM_047437967.1:c.821C>T, XM_047437970.1:c.821C>T, XM_047437966.1:c.821C>T, XM_047437969.1:c.821C>T, XM_047437962.1:c.869C>T, XM_047437971.1:c.821C>T, XM_047437963.1:c.869C>T, XM_047437968.1:c.821C>T, XP_006722651.1:p.Thr274Ile, XP_005258449.1:p.Thr290Ile, XP_006722649.1:p.Thr290Ile, XP_006722646.1:p.Thr290Ile, XP_006722650.1:p.Thr274Ile, XP_011524580.1:p.Thr249Ile, XP_011524581.1:p.Thr274Ile, NP_055587.1:p.Thr274Ile, XP_016881590.1:p.Thr290Ile, XP_016881589.1:p.Thr290Ile, NP_001135869.1:p.Thr274Ile, XP_016881591.1:p.Thr274Ile, XP_047293916.1:p.Thr290Ile, XP_047293921.1:p.Thr274Ile, XP_047293917.1:p.Thr290Ile, XP_047293920.1:p.Thr290Ile, XP_047293923.1:p.Thr274Ile, XP_047293926.1:p.Thr274Ile, XP_047293922.1:p.Thr274Ile, XP_047293925.1:p.Thr274Ile, XP_047293918.1:p.Thr290Ile, XP_047293927.1:p.Thr274Ile, XP_047293919.1:p.Thr290Ile, XP_047293924.1:p.Thr274Ile

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