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Items: 1 to 20 of 600

1.

rs1488239396 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    20:57514653 (GRCh38)
    20:56089709 (GRCh37)
    Canonical SPDI:
    NC_000020.11:57514652:T:C
    Gene:
    CTCFL (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000011/3 (TOPMED)
    HGVS:
    NC_000020.11:g.57514653T>C, NC_000020.10:g.56089709T>C, NM_080618.4:c.1269A>G, NM_080618.3:c.1269A>G, NR_072975.3:n.1761A>G, NR_072975.2:n.1931A>G, NR_072975.1:n.1931A>G, NM_001269044.3:c.1269A>G, NM_001269044.2:c.1269A>G, NM_001269044.1:c.1269A>G, NM_001269050.3:c.654A>G, NM_001269050.2:c.654A>G, NM_001269050.1:c.654A>G, NM_001269055.3:c.483A>G, NM_001269055.2:c.483A>G, NM_001269055.1:c.483A>G, NM_001269041.2:c.1269A>G, NM_001269041.1:c.1269A>G, NM_001269040.2:c.1269A>G, NM_001269040.1:c.1269A>G, NM_001269042.2:c.1269A>G, NM_001269042.1:c.1269A>G, NM_001269047.2:c.1269A>G, NM_001269047.1:c.1269A>G, NM_001269045.2:c.1269A>G, NM_001269045.1:c.1269A>G, NM_001269043.2:c.1269A>G, NM_001269043.1:c.1269A>G, NM_001269049.2:c.654A>G, NM_001269049.1:c.654A>G, NM_001269054.2:c.483A>G, NM_001269054.1:c.483A>G, NM_001386995.1:c.1269A>G, NM_001386993.1:c.1269A>G, NM_001386994.1:c.1269A>G

    2.

    rs1485997607 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      20:57515832 (GRCh38)
      20:56090888 (GRCh37)
      Canonical SPDI:
      NC_000020.11:57515831:T:G
      Gene:
      CTCFL (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_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_000020.11:g.57515832T>G, NC_000020.10:g.56090888T>G, NM_080618.4:c.1062A>C, NM_080618.3:c.1062A>C, NR_072975.3:n.1554A>C, NR_072975.2:n.1724A>C, NR_072975.1:n.1724A>C, NM_001269044.3:c.1062A>C, NM_001269044.2:c.1062A>C, NM_001269044.1:c.1062A>C, NM_001269050.3:c.447A>C, NM_001269050.2:c.447A>C, NM_001269050.1:c.447A>C, NM_001269055.3:c.276A>C, NM_001269055.2:c.276A>C, NM_001269055.1:c.276A>C, NM_001269041.2:c.1062A>C, NM_001269041.1:c.1062A>C, NM_001269046.2:c.1062A>C, NM_001269046.1:c.1062A>C, NM_001269040.2:c.1062A>C, NM_001269040.1:c.1062A>C, NM_001269042.2:c.1062A>C, NM_001269042.1:c.1062A>C, NM_001269047.2:c.1062A>C, NM_001269047.1:c.1062A>C, NM_001269045.2:c.1062A>C, NM_001269045.1:c.1062A>C, NM_001269043.2:c.1062A>C, NM_001269043.1:c.1062A>C, NM_001269049.2:c.447A>C, NM_001269049.1:c.447A>C, NM_001269054.2:c.276A>C, NM_001269054.1:c.276A>C, NM_001386995.1:c.1062A>C, NM_001386993.1:c.1062A>C, NM_001386994.1:c.1062A>C, NM_001386997.1:c.1062A>C, NR_170377.1:n.1554A>C

      3.

      rs1484497349 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        20:57515815 (GRCh38)
        20:56090871 (GRCh37)
        Canonical SPDI:
        NC_000020.11:57515814:T:G
        Gene:
        CTCFL (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0.000031/1 (ALFA)
        G=0.000004/1 (GnomAD_exomes)
        G=0.000008/2 (TOPMED)
        HGVS:
        NC_000020.11:g.57515815T>G, NC_000020.10:g.56090871T>G, NM_080618.4:c.1079A>C, NM_080618.3:c.1079A>C, NR_072975.3:n.1571A>C, NR_072975.2:n.1741A>C, NR_072975.1:n.1741A>C, NM_001269044.3:c.1079A>C, NM_001269044.2:c.1079A>C, NM_001269044.1:c.1079A>C, NM_001269050.3:c.464A>C, NM_001269050.2:c.464A>C, NM_001269050.1:c.464A>C, NM_001269055.3:c.293A>C, NM_001269055.2:c.293A>C, NM_001269055.1:c.293A>C, NM_001269041.2:c.1079A>C, NM_001269041.1:c.1079A>C, NM_001269046.2:c.1079A>C, NM_001269046.1:c.1079A>C, NM_001269040.2:c.1079A>C, NM_001269040.1:c.1079A>C, NM_001269042.2:c.1079A>C, NM_001269042.1:c.1079A>C, NM_001269047.2:c.1079A>C, NM_001269047.1:c.1079A>C, NM_001269045.2:c.1079A>C, NM_001269045.1:c.1079A>C, NM_001269043.2:c.1079A>C, NM_001269043.1:c.1079A>C, NM_001269049.2:c.464A>C, NM_001269049.1:c.464A>C, NM_001269054.2:c.293A>C, NM_001269054.1:c.293A>C, NM_001386995.1:c.1079A>C, NM_001386993.1:c.1079A>C, NM_001386994.1:c.1079A>C, NM_001386997.1:c.1079A>C, NR_170377.1:n.1571A>C, NP_542185.2:p.His360Pro, NP_001255973.1:p.His360Pro, NP_001255979.1:p.His155Pro, NP_001255984.1:p.His98Pro, NP_001255970.1:p.His360Pro, NP_001255975.1:p.His360Pro, NP_001255969.1:p.His360Pro, NP_001255971.1:p.His360Pro, NP_001255976.1:p.His360Pro, NP_001255974.1:p.His360Pro, NP_001255972.1:p.His360Pro, NP_001255978.1:p.His155Pro, NP_001255983.1:p.His98Pro, NP_001373924.1:p.His360Pro, NP_001373922.1:p.His360Pro, NP_001373923.1:p.His360Pro, NP_001373926.1:p.His360Pro

        4.

        rs1484465562 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          20:57512671 (GRCh38)
          20:56087727 (GRCh37)
          Canonical SPDI:
          NC_000020.11:57512670:T:C
          Gene:
          CTCFL (Varview)
          Functional Consequence:
          missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0./0 (ALFA)
          C=0.000004/1 (GnomAD_exomes)
          C=0.000071/1 (TOMMO)
          HGVS:
          NC_000020.11:g.57512671T>C, NC_000020.10:g.56087727T>C, NM_080618.4:c.1412A>G, NM_080618.3:c.1412A>G, NR_072975.3:n.2541A>G, NR_072975.2:n.2711A>G, NR_072975.1:n.2711A>G, NM_001269044.3:c.1412A>G, NM_001269044.2:c.1412A>G, NM_001269044.1:c.1412A>G, NM_001269050.3:c.797A>G, NM_001269050.2:c.797A>G, NM_001269050.1:c.797A>G, NM_001269055.3:c.626A>G, NM_001269055.2:c.626A>G, NM_001269055.1:c.626A>G, NM_001269041.2:c.1412A>G, NM_001269041.1:c.1412A>G, NM_001269046.2:c.1262A>G, NM_001269046.1:c.1262A>G, NM_001269040.2:c.1412A>G, NM_001269040.1:c.1412A>G, NM_001269042.2:c.1412A>G, NM_001269042.1:c.1412A>G, NM_001269047.2:c.1412A>G, NM_001269047.1:c.1412A>G, NM_001269045.2:c.1412A>G, NM_001269045.1:c.1412A>G, NM_001269043.2:c.1412A>G, NM_001269043.1:c.1412A>G, NM_001269049.2:c.797A>G, NM_001269049.1:c.797A>G, NM_001269054.2:c.626A>G, NM_001269054.1:c.626A>G, NM_001386995.1:c.1412A>G, NM_001386993.1:c.1412A>G, NM_001386994.1:c.1412A>G, NM_001386997.1:c.1262A>G, NP_542185.2:p.Tyr471Cys, NP_001255973.1:p.Tyr471Cys, NP_001255979.1:p.Tyr266Cys, NP_001255984.1:p.Tyr209Cys, NP_001255970.1:p.Tyr471Cys, NP_001255975.1:p.Tyr421Cys, NP_001255969.1:p.Tyr471Cys, NP_001255971.1:p.Tyr471Cys, NP_001255976.1:p.Tyr471Cys, NP_001255974.1:p.Tyr471Cys, NP_001255972.1:p.Tyr471Cys, NP_001255978.1:p.Tyr266Cys, NP_001255983.1:p.Tyr209Cys, NP_001373924.1:p.Tyr471Cys, NP_001373922.1:p.Tyr471Cys, NP_001373923.1:p.Tyr471Cys, NP_001373926.1:p.Tyr421Cys

          5.

          rs1481361496 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            20:57523225 (GRCh38)
            20:56098281 (GRCh37)
            Canonical SPDI:
            NC_000020.11:57523224:C:T
            Gene:
            CTCFL (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
            HGVS:
            NC_000020.11:g.57523225C>T, NC_000020.10:g.56098281C>T, NM_080618.4:c.597G>A, NM_080618.3:c.597G>A, NR_072975.3:n.1089G>A, NR_072975.2:n.1259G>A, NR_072975.1:n.1259G>A, NM_001269044.3:c.597G>A, NM_001269044.2:c.597G>A, NM_001269044.1:c.597G>A, NM_001269048.3:c.597G>A, NM_001269048.2:c.597G>A, NM_001269048.1:c.597G>A, NM_001269050.3:c.-19G>A, NM_001269050.2:c.-19G>A, NM_001269050.1:c.-19G>A, NM_001269052.3:c.597G>A, NM_001269052.2:c.597G>A, NM_001269052.1:c.597G>A, NM_001269041.2:c.597G>A, NM_001269041.1:c.597G>A, NM_001269046.2:c.597G>A, NM_001269046.1:c.597G>A, NM_001269040.2:c.597G>A, NM_001269040.1:c.597G>A, NM_001269042.2:c.597G>A, NM_001269042.1:c.597G>A, NM_001269047.2:c.597G>A, NM_001269047.1:c.597G>A, NM_001269045.2:c.597G>A, NM_001269045.1:c.597G>A, NM_001269043.2:c.597G>A, NM_001269043.1:c.597G>A, NM_001269049.2:c.-19G>A, NM_001269049.1:c.-19G>A, NM_001269051.2:c.597G>A, NM_001269051.1:c.597G>A, NM_001386995.1:c.597G>A, NM_001386993.1:c.597G>A, NM_001386994.1:c.597G>A, NM_001386997.1:c.597G>A, NR_170377.1:n.1089G>A, NM_001386996.1:c.597G>A

            6.

            rs1481033538 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A [Show Flanks]
              Chromosome:
              20:57523794 (GRCh38)
              20:56098850 (GRCh37)
              Canonical SPDI:
              NC_000020.11:57523793:T:A
              Gene:
              CTCFL (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000020.11:g.57523794T>A, NC_000020.10:g.56098850T>A, NM_080618.4:c.412A>T, NM_080618.3:c.412A>T, NR_072975.3:n.904A>T, NR_072975.2:n.1074A>T, NR_072975.1:n.1074A>T, NM_001269044.3:c.412A>T, NM_001269044.2:c.412A>T, NM_001269044.1:c.412A>T, NM_001269048.3:c.412A>T, NM_001269048.2:c.412A>T, NM_001269048.1:c.412A>T, NM_001269052.3:c.412A>T, NM_001269052.2:c.412A>T, NM_001269052.1:c.412A>T, NM_001269041.2:c.412A>T, NM_001269041.1:c.412A>T, NM_001269046.2:c.412A>T, NM_001269046.1:c.412A>T, NM_001269040.2:c.412A>T, NM_001269040.1:c.412A>T, NM_001269042.2:c.412A>T, NM_001269042.1:c.412A>T, NM_001269047.2:c.412A>T, NM_001269047.1:c.412A>T, NM_001269045.2:c.412A>T, NM_001269045.1:c.412A>T, NM_001269043.2:c.412A>T, NM_001269043.1:c.412A>T, NM_001269051.2:c.412A>T, NM_001269051.1:c.412A>T, NM_001386995.1:c.412A>T, NM_001386993.1:c.412A>T, NM_001386994.1:c.412A>T, NM_001386997.1:c.412A>T, NR_170377.1:n.904A>T, NM_001386996.1:c.412A>T, NP_542185.2:p.Ile138Phe, NP_001255973.1:p.Ile138Phe, NP_001255977.1:p.Ile138Phe, NP_001255981.1:p.Ile138Phe, NP_001255970.1:p.Ile138Phe, NP_001255975.1:p.Ile138Phe, NP_001255969.1:p.Ile138Phe, NP_001255971.1:p.Ile138Phe, NP_001255976.1:p.Ile138Phe, NP_001255974.1:p.Ile138Phe, NP_001255972.1:p.Ile138Phe, NP_001255980.1:p.Ile138Phe, NP_001373924.1:p.Ile138Phe, NP_001373922.1:p.Ile138Phe, NP_001373923.1:p.Ile138Phe, NP_001373926.1:p.Ile138Phe, NP_001373925.1:p.Ile138Phe

              7.

              rs1480190162 [Homo sapiens]
                Variant type:
                DEL
                Alleles:
                GCACTGGCA>- [Show Flanks]
                Chromosome:
                20:57515769 (GRCh38)
                20:56090825 (GRCh37)
                Canonical SPDI:
                NC_000020.11:57515768:GCACTGGCA:
                Gene:
                CTCFL (Varview)
                Functional Consequence:
                genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,inframe_deletion
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                -=0./0 (ALFA)
                -=0.000007/1 (GnomAD)
                -=0.000008/2 (TOPMED)
                HGVS:
                NC_000020.11:g.57515769_57515777del, NC_000020.10:g.56090825_56090833del, NM_080618.4:c.1117_1125del, NM_080618.3:c.1117_1125del, NR_072975.3:n.1609_1617del, NR_072975.2:n.1779_1787del, NR_072975.1:n.1779_1787del, NM_001269044.3:c.1117_1125del, NM_001269044.2:c.1117_1125del, NM_001269044.1:c.1117_1125del, NM_001269050.3:c.502_510del, NM_001269050.2:c.502_510del, NM_001269050.1:c.502_510del, NM_001269055.3:c.331_339del, NM_001269055.2:c.331_339del, NM_001269055.1:c.331_339del, NM_001269041.2:c.1117_1125del, NM_001269041.1:c.1117_1125del, NM_001269046.2:c.1117_1125del, NM_001269046.1:c.1117_1125del, NM_001269040.2:c.1117_1125del, NM_001269040.1:c.1117_1125del, NM_001269042.2:c.1117_1125del, NM_001269042.1:c.1117_1125del, NM_001269047.2:c.1117_1125del, NM_001269047.1:c.1117_1125del, NM_001269045.2:c.1117_1125del, NM_001269045.1:c.1117_1125del, NM_001269043.2:c.1117_1125del, NM_001269043.1:c.1117_1125del, NM_001269049.2:c.502_510del, NM_001269049.1:c.502_510del, NM_001269054.2:c.331_339del, NM_001269054.1:c.331_339del, NM_001386995.1:c.1117_1125del, NM_001386993.1:c.1117_1125del, NM_001386994.1:c.1117_1125del, NM_001386997.1:c.1117_1125del, NR_170377.1:n.1609_1617del, NP_542185.2:p.Cys373_Cys375del, NP_001255973.1:p.Cys373_Cys375del, NP_001255979.1:p.Cys168_Cys170del, NP_001255984.1:p.Cys111_Cys113del, NP_001255970.1:p.Cys373_Cys375del, NP_001255975.1:p.Cys373_Cys375del, NP_001255969.1:p.Cys373_Cys375del, NP_001255971.1:p.Cys373_Cys375del, NP_001255976.1:p.Cys373_Cys375del, NP_001255974.1:p.Cys373_Cys375del, NP_001255972.1:p.Cys373_Cys375del, NP_001255978.1:p.Cys168_Cys170del, NP_001255983.1:p.Cys111_Cys113del, NP_001373924.1:p.Cys373_Cys375del, NP_001373922.1:p.Cys373_Cys375del, NP_001373923.1:p.Cys373_Cys375del, NP_001373926.1:p.Cys373_Cys375del

                8.

                rs1476308330 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,G [Show Flanks]
                  Chromosome:
                  20:57524202 (GRCh38)
                  20:56099258 (GRCh37)
                  Canonical SPDI:
                  NC_000020.11:57524201:C:A,NC_000020.11:57524201:C:G
                  Gene:
                  CTCFL (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                  Validated:
                  by frequency,by cluster
                  MAF:
                  A=0.000012/3 (GnomAD_exomes)
                  G=0.003821/7 (Korea1K)
                  HGVS:
                  NC_000020.11:g.57524202C>A, NC_000020.11:g.57524202C>G, NC_000020.10:g.56099258C>A, NC_000020.10:g.56099258C>G, NM_080618.4:c.4G>T, NM_080618.4:c.4G>C, NM_080618.3:c.4G>T, NM_080618.3:c.4G>C, NR_072975.3:n.496G>T, NR_072975.3:n.496G>C, NR_072975.2:n.666G>T, NR_072975.2:n.666G>C, NR_072975.1:n.666G>T, NR_072975.1:n.666G>C, NM_001269044.3:c.4G>T, NM_001269044.3:c.4G>C, NM_001269044.2:c.4G>T, NM_001269044.2:c.4G>C, NM_001269044.1:c.4G>T, NM_001269044.1:c.4G>C, NM_001269048.3:c.4G>T, NM_001269048.3:c.4G>C, NM_001269048.2:c.4G>T, NM_001269048.2:c.4G>C, NM_001269048.1:c.4G>T, NM_001269048.1:c.4G>C, NM_001269052.3:c.4G>T, NM_001269052.3:c.4G>C, NM_001269052.2:c.4G>T, NM_001269052.2:c.4G>C, NM_001269052.1:c.4G>T, NM_001269052.1:c.4G>C, NM_001269041.2:c.4G>T, NM_001269041.2:c.4G>C, NM_001269041.1:c.4G>T, NM_001269041.1:c.4G>C, NM_001269046.2:c.4G>T, NM_001269046.2:c.4G>C, NM_001269046.1:c.4G>T, NM_001269046.1:c.4G>C, NM_001269040.2:c.4G>T, NM_001269040.2:c.4G>C, NM_001269040.1:c.4G>T, NM_001269040.1:c.4G>C, NM_001269042.2:c.4G>T, NM_001269042.2:c.4G>C, NM_001269042.1:c.4G>T, NM_001269042.1:c.4G>C, NM_001269047.2:c.4G>T, NM_001269047.2:c.4G>C, NM_001269047.1:c.4G>T, NM_001269047.1:c.4G>C, NM_001269045.2:c.4G>T, NM_001269045.2:c.4G>C, NM_001269045.1:c.4G>T, NM_001269045.1:c.4G>C, NM_001269043.2:c.4G>T, NM_001269043.2:c.4G>C, NM_001269043.1:c.4G>T, NM_001269043.1:c.4G>C, NM_001269051.2:c.4G>T, NM_001269051.2:c.4G>C, NM_001269051.1:c.4G>T, NM_001269051.1:c.4G>C, NM_001386995.1:c.4G>T, NM_001386995.1:c.4G>C, NM_001386993.1:c.4G>T, NM_001386993.1:c.4G>C, NM_001386994.1:c.4G>T, NM_001386994.1:c.4G>C, NM_001386997.1:c.4G>T, NM_001386997.1:c.4G>C, NR_170377.1:n.496G>T, NR_170377.1:n.496G>C, NM_001386996.1:c.4G>T, NM_001386996.1:c.4G>C, NP_542185.2:p.Ala2Ser, NP_542185.2:p.Ala2Pro, NP_001255973.1:p.Ala2Ser, NP_001255973.1:p.Ala2Pro, NP_001255977.1:p.Ala2Ser, NP_001255977.1:p.Ala2Pro, NP_001255981.1:p.Ala2Ser, NP_001255981.1:p.Ala2Pro, NP_001255970.1:p.Ala2Ser, NP_001255970.1:p.Ala2Pro, NP_001255975.1:p.Ala2Ser, NP_001255975.1:p.Ala2Pro, NP_001255969.1:p.Ala2Ser, NP_001255969.1:p.Ala2Pro, NP_001255971.1:p.Ala2Ser, NP_001255971.1:p.Ala2Pro, NP_001255976.1:p.Ala2Ser, NP_001255976.1:p.Ala2Pro, NP_001255974.1:p.Ala2Ser, NP_001255974.1:p.Ala2Pro, NP_001255972.1:p.Ala2Ser, NP_001255972.1:p.Ala2Pro, NP_001255980.1:p.Ala2Ser, NP_001255980.1:p.Ala2Pro, NP_001373924.1:p.Ala2Ser, NP_001373924.1:p.Ala2Pro, NP_001373922.1:p.Ala2Ser, NP_001373922.1:p.Ala2Pro, NP_001373923.1:p.Ala2Ser, NP_001373923.1:p.Ala2Pro, NP_001373926.1:p.Ala2Ser, NP_001373926.1:p.Ala2Pro, NP_001373925.1:p.Ala2Ser, NP_001373925.1:p.Ala2Pro

                  9.

                  rs1474682715 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,G [Show Flanks]
                    Chromosome:
                    20:57523915 (GRCh38)
                    20:56098971 (GRCh37)
                    Canonical SPDI:
                    NC_000020.11:57523914:C:A,NC_000020.11:57523914:C:G
                    Gene:
                    CTCFL (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    A=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000020.11:g.57523915C>A, NC_000020.11:g.57523915C>G, NC_000020.10:g.56098971C>A, NC_000020.10:g.56098971C>G, NM_080618.4:c.291G>T, NM_080618.4:c.291G>C, NM_080618.3:c.291G>T, NM_080618.3:c.291G>C, NR_072975.3:n.783G>T, NR_072975.3:n.783G>C, NR_072975.2:n.953G>T, NR_072975.2:n.953G>C, NR_072975.1:n.953G>T, NR_072975.1:n.953G>C, NM_001269044.3:c.291G>T, NM_001269044.3:c.291G>C, NM_001269044.2:c.291G>T, NM_001269044.2:c.291G>C, NM_001269044.1:c.291G>T, NM_001269044.1:c.291G>C, NM_001269048.3:c.291G>T, NM_001269048.3:c.291G>C, NM_001269048.2:c.291G>T, NM_001269048.2:c.291G>C, NM_001269048.1:c.291G>T, NM_001269048.1:c.291G>C, NM_001269052.3:c.291G>T, NM_001269052.3:c.291G>C, NM_001269052.2:c.291G>T, NM_001269052.2:c.291G>C, NM_001269052.1:c.291G>T, NM_001269052.1:c.291G>C, NM_001269041.2:c.291G>T, NM_001269041.2:c.291G>C, NM_001269041.1:c.291G>T, NM_001269041.1:c.291G>C, NM_001269046.2:c.291G>T, NM_001269046.2:c.291G>C, NM_001269046.1:c.291G>T, NM_001269046.1:c.291G>C, NM_001269040.2:c.291G>T, NM_001269040.2:c.291G>C, NM_001269040.1:c.291G>T, NM_001269040.1:c.291G>C, NM_001269042.2:c.291G>T, NM_001269042.2:c.291G>C, NM_001269042.1:c.291G>T, NM_001269042.1:c.291G>C, NM_001269047.2:c.291G>T, NM_001269047.2:c.291G>C, NM_001269047.1:c.291G>T, NM_001269047.1:c.291G>C, NM_001269045.2:c.291G>T, NM_001269045.2:c.291G>C, NM_001269045.1:c.291G>T, NM_001269045.1:c.291G>C, NM_001269043.2:c.291G>T, NM_001269043.2:c.291G>C, NM_001269043.1:c.291G>T, NM_001269043.1:c.291G>C, NM_001269051.2:c.291G>T, NM_001269051.2:c.291G>C, NM_001269051.1:c.291G>T, NM_001269051.1:c.291G>C, NM_001386995.1:c.291G>T, NM_001386995.1:c.291G>C, NM_001386993.1:c.291G>T, NM_001386993.1:c.291G>C, NM_001386994.1:c.291G>T, NM_001386994.1:c.291G>C, NM_001386997.1:c.291G>T, NM_001386997.1:c.291G>C, NR_170377.1:n.783G>T, NR_170377.1:n.783G>C, NM_001386996.1:c.291G>T, NM_001386996.1:c.291G>C, NP_542185.2:p.Met97Ile, NP_542185.2:p.Met97Ile, NP_001255973.1:p.Met97Ile, NP_001255973.1:p.Met97Ile, NP_001255977.1:p.Met97Ile, NP_001255977.1:p.Met97Ile, NP_001255981.1:p.Met97Ile, NP_001255981.1:p.Met97Ile, NP_001255970.1:p.Met97Ile, NP_001255970.1:p.Met97Ile, NP_001255975.1:p.Met97Ile, NP_001255975.1:p.Met97Ile, NP_001255969.1:p.Met97Ile, NP_001255969.1:p.Met97Ile, NP_001255971.1:p.Met97Ile, NP_001255971.1:p.Met97Ile, NP_001255976.1:p.Met97Ile, NP_001255976.1:p.Met97Ile, NP_001255974.1:p.Met97Ile, NP_001255974.1:p.Met97Ile, NP_001255972.1:p.Met97Ile, NP_001255972.1:p.Met97Ile, NP_001255980.1:p.Met97Ile, NP_001255980.1:p.Met97Ile, NP_001373924.1:p.Met97Ile, NP_001373924.1:p.Met97Ile, NP_001373922.1:p.Met97Ile, NP_001373922.1:p.Met97Ile, NP_001373923.1:p.Met97Ile, NP_001373923.1:p.Met97Ile, NP_001373926.1:p.Met97Ile, NP_001373926.1:p.Met97Ile, NP_001373925.1:p.Met97Ile, NP_001373925.1:p.Met97Ile

                    10.

                    rs1472739275 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C [Show Flanks]
                      Chromosome:
                      20:57523721 (GRCh38)
                      20:56098777 (GRCh37)
                      Canonical SPDI:
                      NC_000020.11:57523720:A:C
                      Gene:
                      CTCFL (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000004/1 (TOPMED)
                      HGVS:
                      NC_000020.11:g.57523721A>C, NC_000020.10:g.56098777A>C, NM_080618.4:c.485T>G, NM_080618.3:c.485T>G, NR_072975.3:n.977T>G, NR_072975.2:n.1147T>G, NR_072975.1:n.1147T>G, NM_001269044.3:c.485T>G, NM_001269044.2:c.485T>G, NM_001269044.1:c.485T>G, NM_001269048.3:c.485T>G, NM_001269048.2:c.485T>G, NM_001269048.1:c.485T>G, NM_001269052.3:c.485T>G, NM_001269052.2:c.485T>G, NM_001269052.1:c.485T>G, NM_001269041.2:c.485T>G, NM_001269041.1:c.485T>G, NM_001269046.2:c.485T>G, NM_001269046.1:c.485T>G, NM_001269040.2:c.485T>G, NM_001269040.1:c.485T>G, NM_001269042.2:c.485T>G, NM_001269042.1:c.485T>G, NM_001269047.2:c.485T>G, NM_001269047.1:c.485T>G, NM_001269045.2:c.485T>G, NM_001269045.1:c.485T>G, NM_001269043.2:c.485T>G, NM_001269043.1:c.485T>G, NM_001269051.2:c.485T>G, NM_001269051.1:c.485T>G, NM_001386995.1:c.485T>G, NM_001386993.1:c.485T>G, NM_001386994.1:c.485T>G, NM_001386997.1:c.485T>G, NR_170377.1:n.977T>G, NM_001386996.1:c.485T>G, NP_542185.2:p.Val162Gly, NP_001255973.1:p.Val162Gly, NP_001255977.1:p.Val162Gly, NP_001255981.1:p.Val162Gly, NP_001255970.1:p.Val162Gly, NP_001255975.1:p.Val162Gly, NP_001255969.1:p.Val162Gly, NP_001255971.1:p.Val162Gly, NP_001255976.1:p.Val162Gly, NP_001255974.1:p.Val162Gly, NP_001255972.1:p.Val162Gly, NP_001255980.1:p.Val162Gly, NP_001373924.1:p.Val162Gly, NP_001373922.1:p.Val162Gly, NP_001373923.1:p.Val162Gly, NP_001373926.1:p.Val162Gly, NP_001373925.1:p.Val162Gly

                      11.

                      rs1470945049 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        20:57523879 (GRCh38)
                        20:56098935 (GRCh37)
                        Canonical SPDI:
                        NC_000020.11:57523878:C:T
                        Gene:
                        CTCFL (Varview)
                        Functional Consequence:
                        intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                        HGVS:
                        NC_000020.11:g.57523879C>T, NC_000020.10:g.56098935C>T, NM_080618.4:c.327G>A, NM_080618.3:c.327G>A, NR_072975.3:n.819G>A, NR_072975.2:n.989G>A, NR_072975.1:n.989G>A, NM_001269044.3:c.327G>A, NM_001269044.2:c.327G>A, NM_001269044.1:c.327G>A, NM_001269048.3:c.327G>A, NM_001269048.2:c.327G>A, NM_001269048.1:c.327G>A, NM_001269052.3:c.327G>A, NM_001269052.2:c.327G>A, NM_001269052.1:c.327G>A, NM_001269041.2:c.327G>A, NM_001269041.1:c.327G>A, NM_001269046.2:c.327G>A, NM_001269046.1:c.327G>A, NM_001269040.2:c.327G>A, NM_001269040.1:c.327G>A, NM_001269042.2:c.327G>A, NM_001269042.1:c.327G>A, NM_001269047.2:c.327G>A, NM_001269047.1:c.327G>A, NM_001269045.2:c.327G>A, NM_001269045.1:c.327G>A, NM_001269043.2:c.327G>A, NM_001269043.1:c.327G>A, NM_001269051.2:c.327G>A, NM_001269051.1:c.327G>A, NM_001386995.1:c.327G>A, NM_001386993.1:c.327G>A, NM_001386994.1:c.327G>A, NM_001386997.1:c.327G>A, NR_170377.1:n.819G>A, NM_001386996.1:c.327G>A

                        12.

                        rs1469773992 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          20:57523249 (GRCh38)
                          20:56098305 (GRCh37)
                          Canonical SPDI:
                          NC_000020.11:57523248:T:C
                          Gene:
                          CTCFL (Varview)
                          Functional Consequence:
                          coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          HGVS:
                          NC_000020.11:g.57523249T>C, NC_000020.10:g.56098305T>C, NM_080618.4:c.573A>G, NM_080618.3:c.573A>G, NR_072975.3:n.1065A>G, NR_072975.2:n.1235A>G, NR_072975.1:n.1235A>G, NM_001269044.3:c.573A>G, NM_001269044.2:c.573A>G, NM_001269044.1:c.573A>G, NM_001269048.3:c.573A>G, NM_001269048.2:c.573A>G, NM_001269048.1:c.573A>G, NM_001269050.3:c.-43A>G, NM_001269050.2:c.-43A>G, NM_001269050.1:c.-43A>G, NM_001269052.3:c.573A>G, NM_001269052.2:c.573A>G, NM_001269052.1:c.573A>G, NM_001269041.2:c.573A>G, NM_001269041.1:c.573A>G, NM_001269046.2:c.573A>G, NM_001269046.1:c.573A>G, NM_001269040.2:c.573A>G, NM_001269040.1:c.573A>G, NM_001269042.2:c.573A>G, NM_001269042.1:c.573A>G, NM_001269047.2:c.573A>G, NM_001269047.1:c.573A>G, NM_001269045.2:c.573A>G, NM_001269045.1:c.573A>G, NM_001269043.2:c.573A>G, NM_001269043.1:c.573A>G, NM_001269049.2:c.-43A>G, NM_001269049.1:c.-43A>G, NM_001269051.2:c.573A>G, NM_001269051.1:c.573A>G, NM_001386995.1:c.573A>G, NM_001386993.1:c.573A>G, NM_001386994.1:c.573A>G, NM_001386997.1:c.573A>G, NR_170377.1:n.1065A>G, NM_001386996.1:c.573A>G

                          13.

                          rs1468135751 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A [Show Flanks]
                            Chromosome:
                            20:57512722 (GRCh38)
                            20:56087778 (GRCh37)
                            Canonical SPDI:
                            NC_000020.11:57512721:C:A
                            Gene:
                            CTCFL (Varview)
                            Functional Consequence:
                            missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            A=0.000028/1 (ALFA)
                            A=0.000015/4 (TOPMED)
                            HGVS:
                            NC_000020.11:g.57512722C>A, NC_000020.10:g.56087778C>A, NM_080618.4:c.1361G>T, NM_080618.3:c.1361G>T, NR_072975.3:n.2490G>T, NR_072975.2:n.2660G>T, NR_072975.1:n.2660G>T, NM_001269044.3:c.1361G>T, NM_001269044.2:c.1361G>T, NM_001269044.1:c.1361G>T, NM_001269050.3:c.746G>T, NM_001269050.2:c.746G>T, NM_001269050.1:c.746G>T, NM_001269055.3:c.575G>T, NM_001269055.2:c.575G>T, NM_001269055.1:c.575G>T, NM_001269041.2:c.1361G>T, NM_001269041.1:c.1361G>T, NM_001269046.2:c.1211G>T, NM_001269046.1:c.1211G>T, NM_001269040.2:c.1361G>T, NM_001269040.1:c.1361G>T, NM_001269042.2:c.1361G>T, NM_001269042.1:c.1361G>T, NM_001269047.2:c.1361G>T, NM_001269047.1:c.1361G>T, NM_001269045.2:c.1361G>T, NM_001269045.1:c.1361G>T, NM_001269043.2:c.1361G>T, NM_001269043.1:c.1361G>T, NM_001269049.2:c.746G>T, NM_001269049.1:c.746G>T, NM_001269054.2:c.575G>T, NM_001269054.1:c.575G>T, NM_001386995.1:c.1361G>T, NM_001386993.1:c.1361G>T, NM_001386994.1:c.1361G>T, NM_001386997.1:c.1211G>T, NP_542185.2:p.Ser454Ile, NP_001255973.1:p.Ser454Ile, NP_001255979.1:p.Ser249Ile, NP_001255984.1:p.Ser192Ile, NP_001255970.1:p.Ser454Ile, NP_001255975.1:p.Ser404Ile, NP_001255969.1:p.Ser454Ile, NP_001255971.1:p.Ser454Ile, NP_001255976.1:p.Ser454Ile, NP_001255974.1:p.Ser454Ile, NP_001255972.1:p.Ser454Ile, NP_001255978.1:p.Ser249Ile, NP_001255983.1:p.Ser192Ile, NP_001373924.1:p.Ser454Ile, NP_001373922.1:p.Ser454Ile, NP_001373923.1:p.Ser454Ile, NP_001373926.1:p.Ser404Ile

                            14.

                            rs1467114209 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>A [Show Flanks]
                              Chromosome:
                              20:57519360 (GRCh38)
                              20:56094416 (GRCh37)
                              Canonical SPDI:
                              NC_000020.11:57519359:G:A
                              Gene:
                              CTCFL (Varview)
                              Functional Consequence:
                              missense_variant,non_coding_transcript_variant,coding_sequence_variant,5_prime_UTR_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              A=0./0 (ALFA)
                              A=0.000004/1 (TOPMED)
                              HGVS:
                              NC_000020.11:g.57519360G>A, NC_000020.10:g.56094416G>A, NM_080618.4:c.772C>T, NM_080618.3:c.772C>T, NR_072975.3:n.1264C>T, NR_072975.2:n.1434C>T, NR_072975.1:n.1434C>T, NM_001269044.3:c.772C>T, NM_001269044.2:c.772C>T, NM_001269044.1:c.772C>T, NM_001269048.3:c.772C>T, NM_001269048.2:c.772C>T, NM_001269048.1:c.772C>T, NM_001269050.3:c.157C>T, NM_001269050.2:c.157C>T, NM_001269050.1:c.157C>T, NM_001269055.3:c.-15C>T, NM_001269055.2:c.-15C>T, NM_001269055.1:c.-15C>T, NM_001269052.3:c.772C>T, NM_001269052.2:c.772C>T, NM_001269052.1:c.772C>T, NM_001269041.2:c.772C>T, NM_001269041.1:c.772C>T, NM_001269046.2:c.772C>T, NM_001269046.1:c.772C>T, NM_001269040.2:c.772C>T, NM_001269040.1:c.772C>T, NM_001269042.2:c.772C>T, NM_001269042.1:c.772C>T, NM_001269047.2:c.772C>T, NM_001269047.1:c.772C>T, NM_001269045.2:c.772C>T, NM_001269045.1:c.772C>T, NM_001269043.2:c.772C>T, NM_001269043.1:c.772C>T, NM_001269049.2:c.157C>T, NM_001269049.1:c.157C>T, NM_001269054.2:c.-15C>T, NM_001269054.1:c.-15C>T, NM_001269051.2:c.772C>T, NM_001269051.1:c.772C>T, NM_001386995.1:c.772C>T, NM_001386993.1:c.772C>T, NM_001386994.1:c.772C>T, NM_001386997.1:c.772C>T, NR_170377.1:n.1264C>T, NM_001386996.1:c.772C>T, NP_542185.2:p.His258Tyr, NP_001255973.1:p.His258Tyr, NP_001255977.1:p.His258Tyr, NP_001255979.1:p.His53Tyr, NP_001255981.1:p.His258Tyr, NP_001255970.1:p.His258Tyr, NP_001255975.1:p.His258Tyr, NP_001255969.1:p.His258Tyr, NP_001255971.1:p.His258Tyr, NP_001255976.1:p.His258Tyr, NP_001255974.1:p.His258Tyr, NP_001255972.1:p.His258Tyr, NP_001255978.1:p.His53Tyr, NP_001255980.1:p.His258Tyr, NP_001373924.1:p.His258Tyr, NP_001373922.1:p.His258Tyr, NP_001373923.1:p.His258Tyr, NP_001373926.1:p.His258Tyr, NP_001373925.1:p.His258Tyr

                              15.

                              rs1466151903 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C [Show Flanks]
                                Chromosome:
                                20:57508682 (GRCh38)
                                20:56083738 (GRCh37)
                                Canonical SPDI:
                                NC_000020.11:57508681:A:C
                                Gene:
                                CTCFL (Varview)
                                Functional Consequence:
                                missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                C=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000020.11:g.57508682A>C, NC_000020.10:g.56083738A>C, NM_080618.4:c.1598T>G, NM_080618.3:c.1598T>G, NR_072975.3:n.2727T>G, NR_072975.2:n.2897T>G, NR_072975.1:n.2897T>G, NM_001269044.3:c.1598T>G, NM_001269044.2:c.1598T>G, NM_001269044.1:c.1598T>G, NM_001269048.3:c.1166T>G, NM_001269048.2:c.1166T>G, NM_001269048.1:c.1166T>G, NM_001269050.3:c.983T>G, NM_001269050.2:c.983T>G, NM_001269050.1:c.983T>G, NM_001269055.3:c.812T>G, NM_001269055.2:c.812T>G, NM_001269055.1:c.812T>G, NM_001269041.2:c.1598T>G, NM_001269041.1:c.1598T>G, NM_001269046.2:c.1448T>G, NM_001269046.1:c.1448T>G, NM_001269040.2:c.1598T>G, NM_001269040.1:c.1598T>G, NM_001269042.2:c.1598T>G, NM_001269042.1:c.1598T>G, NM_001269047.2:c.1598T>G, NM_001269047.1:c.1598T>G, NM_001269045.2:c.1598T>G, NM_001269045.1:c.1598T>G, NM_001269043.2:c.1598T>G, NM_001269043.1:c.1598T>G, NM_001269049.2:c.983T>G, NM_001269049.1:c.983T>G, NM_001269054.2:c.812T>G, NM_001269054.1:c.812T>G, NM_001386995.1:c.1598T>G, NM_001386993.1:c.1598T>G, NM_001386994.1:c.1598T>G, NM_001386997.1:c.1448T>G, NR_170377.1:n.1695T>G, NP_542185.2:p.Phe533Cys, NP_001255973.1:p.Phe533Cys, NP_001255977.1:p.Phe389Cys, NP_001255979.1:p.Phe328Cys, NP_001255984.1:p.Phe271Cys, NP_001255970.1:p.Phe533Cys, NP_001255975.1:p.Phe483Cys, NP_001255969.1:p.Phe533Cys, NP_001255971.1:p.Phe533Cys, NP_001255976.1:p.Phe533Cys, NP_001255974.1:p.Phe533Cys, NP_001255972.1:p.Phe533Cys, NP_001255978.1:p.Phe328Cys, NP_001255983.1:p.Phe271Cys, NP_001373924.1:p.Phe533Cys, NP_001373922.1:p.Phe533Cys, NP_001373923.1:p.Phe533Cys, NP_001373926.1:p.Phe483Cys

                                16.

                                rs1462096521 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  20:57518800 (GRCh38)
                                  20:56093856 (GRCh37)
                                  Canonical SPDI:
                                  NC_000020.11:57518799:C:T
                                  Gene:
                                  CTCFL (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  HGVS:
                                  NC_000020.11:g.57518800C>T, NC_000020.10:g.56093856C>T, NM_080618.4:c.1017G>A, NM_080618.3:c.1017G>A, NR_072975.3:n.1509G>A, NR_072975.2:n.1679G>A, NR_072975.1:n.1679G>A, NM_001269044.3:c.1017G>A, NM_001269044.2:c.1017G>A, NM_001269044.1:c.1017G>A, NM_001269048.3:c.1017G>A, NM_001269048.2:c.1017G>A, NM_001269048.1:c.1017G>A, NM_001269050.3:c.402G>A, NM_001269050.2:c.402G>A, NM_001269050.1:c.402G>A, NM_001269055.3:c.231G>A, NM_001269055.2:c.231G>A, NM_001269055.1:c.231G>A, NM_001269052.3:c.1017G>A, NM_001269052.2:c.1017G>A, NM_001269052.1:c.1017G>A, NM_001269041.2:c.1017G>A, NM_001269041.1:c.1017G>A, NM_001269046.2:c.1017G>A, NM_001269046.1:c.1017G>A, NM_001269040.2:c.1017G>A, NM_001269040.1:c.1017G>A, NM_001269042.2:c.1017G>A, NM_001269042.1:c.1017G>A, NM_001269047.2:c.1017G>A, NM_001269047.1:c.1017G>A, NM_001269045.2:c.1017G>A, NM_001269045.1:c.1017G>A, NM_001269043.2:c.1017G>A, NM_001269043.1:c.1017G>A, NM_001269049.2:c.402G>A, NM_001269049.1:c.402G>A, NM_001269054.2:c.231G>A, NM_001269054.1:c.231G>A, NM_001269051.2:c.1017G>A, NM_001269051.1:c.1017G>A, NM_001386995.1:c.1017G>A, NM_001386993.1:c.1017G>A, NM_001386994.1:c.1017G>A, NM_001386997.1:c.1017G>A, NR_170377.1:n.1509G>A, NM_001386996.1:c.1017G>A

                                  17.

                                  rs1461467810 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    20:57524017 (GRCh38)
                                    20:56099073 (GRCh37)
                                    Canonical SPDI:
                                    NC_000020.11:57524016:T:C
                                    Gene:
                                    CTCFL (Varview)
                                    Functional Consequence:
                                    intron_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    C=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000020.11:g.57524017T>C, NC_000020.10:g.56099073T>C, NM_080618.4:c.189A>G, NM_080618.3:c.189A>G, NR_072975.3:n.681A>G, NR_072975.2:n.851A>G, NR_072975.1:n.851A>G, NM_001269044.3:c.189A>G, NM_001269044.2:c.189A>G, NM_001269044.1:c.189A>G, NM_001269048.3:c.189A>G, NM_001269048.2:c.189A>G, NM_001269048.1:c.189A>G, NM_001269052.3:c.189A>G, NM_001269052.2:c.189A>G, NM_001269052.1:c.189A>G, NM_001269041.2:c.189A>G, NM_001269041.1:c.189A>G, NM_001269046.2:c.189A>G, NM_001269046.1:c.189A>G, NM_001269040.2:c.189A>G, NM_001269040.1:c.189A>G, NM_001269042.2:c.189A>G, NM_001269042.1:c.189A>G, NM_001269047.2:c.189A>G, NM_001269047.1:c.189A>G, NM_001269045.2:c.189A>G, NM_001269045.1:c.189A>G, NM_001269043.2:c.189A>G, NM_001269043.1:c.189A>G, NM_001269051.2:c.189A>G, NM_001269051.1:c.189A>G, NM_001386995.1:c.189A>G, NM_001386993.1:c.189A>G, NM_001386994.1:c.189A>G, NM_001386997.1:c.189A>G, NR_170377.1:n.681A>G, NM_001386996.1:c.189A>G

                                    18.

                                    rs1460298207 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>C [Show Flanks]
                                      Chromosome:
                                      20:57508712 (GRCh38)
                                      20:56083768 (GRCh37)
                                      Canonical SPDI:
                                      NC_000020.11:57508711:A:C
                                      Gene:
                                      CTCFL (Varview)
                                      Functional Consequence:
                                      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      C=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000020.11:g.57508712A>C, NC_000020.10:g.56083768A>C, NM_080618.4:c.1568T>G, NM_080618.3:c.1568T>G, NR_072975.3:n.2697T>G, NR_072975.2:n.2867T>G, NR_072975.1:n.2867T>G, NM_001269044.3:c.1568T>G, NM_001269044.2:c.1568T>G, NM_001269044.1:c.1568T>G, NM_001269048.3:c.1136T>G, NM_001269048.2:c.1136T>G, NM_001269048.1:c.1136T>G, NM_001269050.3:c.953T>G, NM_001269050.2:c.953T>G, NM_001269050.1:c.953T>G, NM_001269055.3:c.782T>G, NM_001269055.2:c.782T>G, NM_001269055.1:c.782T>G, NM_001269041.2:c.1568T>G, NM_001269041.1:c.1568T>G, NM_001269046.2:c.1418T>G, NM_001269046.1:c.1418T>G, NM_001269040.2:c.1568T>G, NM_001269040.1:c.1568T>G, NM_001269042.2:c.1568T>G, NM_001269042.1:c.1568T>G, NM_001269047.2:c.1568T>G, NM_001269047.1:c.1568T>G, NM_001269045.2:c.1568T>G, NM_001269045.1:c.1568T>G, NM_001269043.2:c.1568T>G, NM_001269043.1:c.1568T>G, NM_001269049.2:c.953T>G, NM_001269049.1:c.953T>G, NM_001269054.2:c.782T>G, NM_001269054.1:c.782T>G, NM_001386995.1:c.1568T>G, NM_001386993.1:c.1568T>G, NM_001386994.1:c.1568T>G, NM_001386997.1:c.1418T>G, NP_542185.2:p.Phe523Cys, NP_001255973.1:p.Phe523Cys, NP_001255977.1:p.Phe379Cys, NP_001255979.1:p.Phe318Cys, NP_001255984.1:p.Phe261Cys, NP_001255970.1:p.Phe523Cys, NP_001255975.1:p.Phe473Cys, NP_001255969.1:p.Phe523Cys, NP_001255971.1:p.Phe523Cys, NP_001255976.1:p.Phe523Cys, NP_001255974.1:p.Phe523Cys, NP_001255972.1:p.Phe523Cys, NP_001255978.1:p.Phe318Cys, NP_001255983.1:p.Phe261Cys, NP_001373924.1:p.Phe523Cys, NP_001373922.1:p.Phe523Cys, NP_001373923.1:p.Phe523Cys, NP_001373926.1:p.Phe473Cys

                                      19.

                                      rs1459119209 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        20:57512685 (GRCh38)
                                        20:56087741 (GRCh37)
                                        Canonical SPDI:
                                        NC_000020.11:57512684:G:A
                                        Gene:
                                        CTCFL (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000007/1 (GnomAD)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000020.11:g.57512685G>A, NC_000020.10:g.56087741G>A, NM_080618.4:c.1398C>T, NM_080618.3:c.1398C>T, NR_072975.3:n.2527C>T, NR_072975.2:n.2697C>T, NR_072975.1:n.2697C>T, NM_001269044.3:c.1398C>T, NM_001269044.2:c.1398C>T, NM_001269044.1:c.1398C>T, NM_001269050.3:c.783C>T, NM_001269050.2:c.783C>T, NM_001269050.1:c.783C>T, NM_001269055.3:c.612C>T, NM_001269055.2:c.612C>T, NM_001269055.1:c.612C>T, NM_001269041.2:c.1398C>T, NM_001269041.1:c.1398C>T, NM_001269046.2:c.1248C>T, NM_001269046.1:c.1248C>T, NM_001269040.2:c.1398C>T, NM_001269040.1:c.1398C>T, NM_001269042.2:c.1398C>T, NM_001269042.1:c.1398C>T, NM_001269047.2:c.1398C>T, NM_001269047.1:c.1398C>T, NM_001269045.2:c.1398C>T, NM_001269045.1:c.1398C>T, NM_001269043.2:c.1398C>T, NM_001269043.1:c.1398C>T, NM_001269049.2:c.783C>T, NM_001269049.1:c.783C>T, NM_001269054.2:c.612C>T, NM_001269054.1:c.612C>T, NM_001386995.1:c.1398C>T, NM_001386993.1:c.1398C>T, NM_001386994.1:c.1398C>T, NM_001386997.1:c.1248C>T

                                        20.

                                        rs1457398539 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          20:57523785 (GRCh38)
                                          20:56098841 (GRCh37)
                                          Canonical SPDI:
                                          NC_000020.11:57523784:C:A
                                          Gene:
                                          CTCFL (Varview)
                                          Functional Consequence:
                                          intron_variant,coding_sequence_variant,stop_gained,non_coding_transcript_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_000020.11:g.57523785C>A, NC_000020.10:g.56098841C>A, NM_080618.4:c.421G>T, NM_080618.3:c.421G>T, NR_072975.3:n.913G>T, NR_072975.2:n.1083G>T, NR_072975.1:n.1083G>T, NM_001269044.3:c.421G>T, NM_001269044.2:c.421G>T, NM_001269044.1:c.421G>T, NM_001269048.3:c.421G>T, NM_001269048.2:c.421G>T, NM_001269048.1:c.421G>T, NM_001269052.3:c.421G>T, NM_001269052.2:c.421G>T, NM_001269052.1:c.421G>T, NM_001269041.2:c.421G>T, NM_001269041.1:c.421G>T, NM_001269046.2:c.421G>T, NM_001269046.1:c.421G>T, NM_001269040.2:c.421G>T, NM_001269040.1:c.421G>T, NM_001269042.2:c.421G>T, NM_001269042.1:c.421G>T, NM_001269047.2:c.421G>T, NM_001269047.1:c.421G>T, NM_001269045.2:c.421G>T, NM_001269045.1:c.421G>T, NM_001269043.2:c.421G>T, NM_001269043.1:c.421G>T, NM_001269051.2:c.421G>T, NM_001269051.1:c.421G>T, NM_001386995.1:c.421G>T, NM_001386993.1:c.421G>T, NM_001386994.1:c.421G>T, NM_001386997.1:c.421G>T, NR_170377.1:n.913G>T, NM_001386996.1:c.421G>T, NP_542185.2:p.Glu141Ter, NP_001255973.1:p.Glu141Ter, NP_001255977.1:p.Glu141Ter, NP_001255981.1:p.Glu141Ter, NP_001255970.1:p.Glu141Ter, NP_001255975.1:p.Glu141Ter, NP_001255969.1:p.Glu141Ter, NP_001255971.1:p.Glu141Ter, NP_001255976.1:p.Glu141Ter, NP_001255974.1:p.Glu141Ter, NP_001255972.1:p.Glu141Ter, NP_001255980.1:p.Glu141Ter, NP_001373924.1:p.Glu141Ter, NP_001373922.1:p.Glu141Ter, NP_001373923.1:p.Glu141Ter, NP_001373926.1:p.Glu141Ter, NP_001373925.1:p.Glu141Ter

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