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Items: 1 to 20 of 499

1.

rs1490500277 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    9:17135188 (GRCh38)
    9:17135186 (GRCh37)
    Canonical SPDI:
    NC_000009.12:17135187:T:C
    Gene:
    CNTLN (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
    Validated:
    by frequency
    MAF:
    C=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000009.12:g.17135188T>C, NC_000009.11:g.17135186T>C, XM_006716793.5:c.123T>C, XM_006716793.4:c.123T>C, XM_006716793.3:c.123T>C, XM_006716793.2:c.123T>C, XM_006716793.1:c.123T>C, NM_017738.4:c.123T>C, NM_017738.3:c.123T>C, NM_017738.2:c.123T>C, NM_001114395.3:c.123T>C, NM_001114395.2:c.123T>C, NM_001114395.1:c.123T>C, XR_929282.3:n.149T>C, XR_929282.2:n.198T>C, XR_929282.1:n.198T>C, XM_011517941.3:c.123T>C, XM_011517941.2:c.123T>C, XM_011517941.1:c.123T>C, XM_024447583.2:c.123T>C, XM_024447583.1:c.123T>C, XM_017014839.2:c.123T>C, XM_017014839.1:c.123T>C, XM_017014841.2:c.123T>C, XM_017014841.1:c.123T>C, XM_017014842.2:c.123T>C, XM_017014842.1:c.123T>C, XM_017014843.2:c.123T>C, XM_017014843.1:c.123T>C, NM_001286984.2:c.123T>C, NM_001286984.1:c.123T>C, NM_001286985.2:c.123T>C, NM_001286985.1:c.123T>C, XM_047423521.1:c.123T>C, NM_001365029.1:c.123T>C, XM_047423519.1:c.123T>C, XM_047423520.1:c.123T>C, XR_007061321.1:n.149T>C, XR_007061322.1:n.149T>C

    2.

    rs1486794350 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      9:17135240 (GRCh38)
      9:17135238 (GRCh37)
      Canonical SPDI:
      NC_000009.12:17135239:G:A
      Gene:
      CNTLN (Varview)
      Functional Consequence:
      intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
      Validated:
      by frequency,by cluster
      MAF:
      A=0.00007/1 (TOMMO)
      HGVS:
      NC_000009.12:g.17135240G>A, NC_000009.11:g.17135238G>A, NM_017738.4:c.175G>A, NM_017738.3:c.175G>A, NM_017738.2:c.175G>A, NM_001114395.3:c.175G>A, NM_001114395.2:c.175G>A, NM_001114395.1:c.175G>A, XR_929282.3:n.201G>A, XR_929282.2:n.250G>A, XR_929282.1:n.250G>A, XM_011517941.3:c.175G>A, XM_011517941.2:c.175G>A, XM_011517941.1:c.175G>A, XM_024447583.2:c.175G>A, XM_024447583.1:c.175G>A, XM_017014839.2:c.175G>A, XM_017014839.1:c.175G>A, XM_017014841.2:c.175G>A, XM_017014841.1:c.175G>A, XM_017014842.2:c.175G>A, XM_017014842.1:c.175G>A, XM_017014843.2:c.175G>A, XM_017014843.1:c.175G>A, NM_001286984.2:c.175G>A, NM_001286984.1:c.175G>A, XM_047423521.1:c.175G>A, NM_001365029.1:c.175G>A, XM_047423520.1:c.175G>A, XR_007061321.1:n.201G>A, XR_007061322.1:n.201G>A, NP_060208.2:p.Gly59Ser, NP_001107867.1:p.Gly59Ser, XP_011516243.1:p.Gly59Ser, XP_024303351.1:p.Gly59Ser, XP_016870328.1:p.Gly59Ser, XP_016870330.1:p.Gly59Ser, XP_016870331.1:p.Gly59Ser, XP_016870332.1:p.Gly59Ser, NP_001273913.1:p.Gly59Ser, XP_047279477.1:p.Gly59Ser, NP_001351958.1:p.Gly59Ser, XP_047279476.1:p.Gly59Ser

      3.

      rs1484628312 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        9:17298233 (GRCh38)
        9:17298231 (GRCh37)
        Canonical SPDI:
        NC_000009.12:17298232:A:G
        Gene:
        CNTLN (Varview)
        Functional Consequence:
        missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
        HGVS:
        NC_000009.12:g.17298233A>G, NC_000009.11:g.17298231A>G, XM_006716793.5:c.838A>G, XM_006716793.4:c.838A>G, XM_006716793.3:c.838A>G, XM_006716793.2:c.838A>G, XM_006716793.1:c.838A>G, NM_017738.4:c.1027A>G, NM_017738.3:c.1027A>G, NM_017738.2:c.1027A>G, NM_001114395.3:c.1027A>G, NM_001114395.2:c.1027A>G, NM_001114395.1:c.1027A>G, XR_929282.3:n.1053A>G, XR_929282.2:n.1102A>G, XR_929282.1:n.1102A>G, XM_011517941.3:c.1027A>G, XM_011517941.2:c.1027A>G, XM_011517941.1:c.1027A>G, XM_024447583.2:c.1027A>G, XM_024447583.1:c.1027A>G, XM_017014839.2:c.1027A>G, XM_017014839.1:c.1027A>G, XM_017014841.2:c.1027A>G, XM_017014841.1:c.1027A>G, XM_017014842.2:c.1027A>G, XM_017014842.1:c.1027A>G, XM_017014843.2:c.1027A>G, XM_017014843.1:c.1027A>G, XM_047423521.1:c.1027A>G, NM_001365029.1:c.1027A>G, XM_047423519.1:c.838A>G, XM_047423520.1:c.1027A>G, XR_007061321.1:n.1053A>G, XR_007061322.1:n.1053A>G, XP_006716856.1:p.Thr280Ala, NP_060208.2:p.Thr343Ala, NP_001107867.1:p.Thr343Ala, XP_011516243.1:p.Thr343Ala, XP_024303351.1:p.Thr343Ala, XP_016870328.1:p.Thr343Ala, XP_016870330.1:p.Thr343Ala, XP_016870331.1:p.Thr343Ala, XP_016870332.1:p.Thr343Ala, XP_047279477.1:p.Thr343Ala, NP_001351958.1:p.Thr343Ala, XP_047279475.1:p.Thr280Ala, XP_047279476.1:p.Thr343Ala

        4.

        rs1484602952 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G [Show Flanks]
          Chromosome:
          9:17298220 (GRCh38)
          9:17298218 (GRCh37)
          Canonical SPDI:
          NC_000009.12:17298219:C:G
          Gene:
          CNTLN (Varview)
          Functional Consequence:
          non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,stop_gained
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          G=0./0 (ALFA)
          G=0.000014/2 (GnomAD)
          G=0.00003/8 (TOPMED)
          HGVS:
          NC_000009.12:g.17298220C>G, NC_000009.11:g.17298218C>G, XM_006716793.5:c.825C>G, XM_006716793.4:c.825C>G, XM_006716793.3:c.825C>G, XM_006716793.2:c.825C>G, XM_006716793.1:c.825C>G, NM_017738.4:c.1014C>G, NM_017738.3:c.1014C>G, NM_017738.2:c.1014C>G, NM_001114395.3:c.1014C>G, NM_001114395.2:c.1014C>G, NM_001114395.1:c.1014C>G, XR_929282.3:n.1040C>G, XR_929282.2:n.1089C>G, XR_929282.1:n.1089C>G, XM_011517941.3:c.1014C>G, XM_011517941.2:c.1014C>G, XM_011517941.1:c.1014C>G, XM_024447583.2:c.1014C>G, XM_024447583.1:c.1014C>G, XM_017014839.2:c.1014C>G, XM_017014839.1:c.1014C>G, XM_017014841.2:c.1014C>G, XM_017014841.1:c.1014C>G, XM_017014842.2:c.1014C>G, XM_017014842.1:c.1014C>G, XM_017014843.2:c.1014C>G, XM_017014843.1:c.1014C>G, XM_047423521.1:c.1014C>G, NM_001365029.1:c.1014C>G, XM_047423519.1:c.825C>G, XM_047423520.1:c.1014C>G, XR_007061321.1:n.1040C>G, XR_007061322.1:n.1040C>G, XP_006716856.1:p.Tyr275Ter, NP_060208.2:p.Tyr338Ter, NP_001107867.1:p.Tyr338Ter, XP_011516243.1:p.Tyr338Ter, XP_024303351.1:p.Tyr338Ter, XP_016870328.1:p.Tyr338Ter, XP_016870330.1:p.Tyr338Ter, XP_016870331.1:p.Tyr338Ter, XP_016870332.1:p.Tyr338Ter, XP_047279477.1:p.Tyr338Ter, NP_001351958.1:p.Tyr338Ter, XP_047279475.1:p.Tyr275Ter, XP_047279476.1:p.Tyr338Ter

          5.

          rs1484332464 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            9:17226268 (GRCh38)
            9:17226266 (GRCh37)
            Canonical SPDI:
            NC_000009.12:17226267:A:G
            Gene:
            CNTLN (Varview)
            Functional Consequence:
            missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.17226268A>G, NC_000009.11:g.17226266A>G, XM_006716793.5:c.326A>G, XM_006716793.4:c.326A>G, XM_006716793.3:c.326A>G, XM_006716793.2:c.326A>G, XM_006716793.1:c.326A>G, NM_017738.4:c.515A>G, NM_017738.3:c.515A>G, NM_017738.2:c.515A>G, NM_001114395.3:c.515A>G, NM_001114395.2:c.515A>G, NM_001114395.1:c.515A>G, XR_929282.3:n.541A>G, XR_929282.2:n.590A>G, XR_929282.1:n.590A>G, XM_011517941.3:c.515A>G, XM_011517941.2:c.515A>G, XM_011517941.1:c.515A>G, XM_024447583.2:c.515A>G, XM_024447583.1:c.515A>G, XM_017014839.2:c.515A>G, XM_017014839.1:c.515A>G, XM_017014841.2:c.515A>G, XM_017014841.1:c.515A>G, XM_017014842.2:c.515A>G, XM_017014842.1:c.515A>G, XM_017014843.2:c.515A>G, XM_017014843.1:c.515A>G, XM_047423521.1:c.515A>G, NM_001365029.1:c.515A>G, XM_047423519.1:c.326A>G, XM_047423520.1:c.515A>G, XR_007061321.1:n.541A>G, XR_007061322.1:n.541A>G, XP_006716856.1:p.Lys109Arg, NP_060208.2:p.Lys172Arg, NP_001107867.1:p.Lys172Arg, XP_011516243.1:p.Lys172Arg, XP_024303351.1:p.Lys172Arg, XP_016870328.1:p.Lys172Arg, XP_016870330.1:p.Lys172Arg, XP_016870331.1:p.Lys172Arg, XP_016870332.1:p.Lys172Arg, XP_047279477.1:p.Lys172Arg, NP_001351958.1:p.Lys172Arg, XP_047279475.1:p.Lys109Arg, XP_047279476.1:p.Lys172Arg

            6.

            rs1483841963 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              9:17298203 (GRCh38)
              9:17298201 (GRCh37)
              Canonical SPDI:
              NC_000009.12:17298202:G:C
              Gene:
              CNTLN (Varview)
              Functional Consequence:
              missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (TOPMED)
              HGVS:
              NC_000009.12:g.17298203G>C, NC_000009.11:g.17298201G>C, XM_006716793.5:c.808G>C, XM_006716793.4:c.808G>C, XM_006716793.3:c.808G>C, XM_006716793.2:c.808G>C, XM_006716793.1:c.808G>C, NM_017738.4:c.997G>C, NM_017738.3:c.997G>C, NM_017738.2:c.997G>C, NM_001114395.3:c.997G>C, NM_001114395.2:c.997G>C, NM_001114395.1:c.997G>C, XR_929282.3:n.1023G>C, XR_929282.2:n.1072G>C, XR_929282.1:n.1072G>C, XM_011517941.3:c.997G>C, XM_011517941.2:c.997G>C, XM_011517941.1:c.997G>C, XM_024447583.2:c.997G>C, XM_024447583.1:c.997G>C, XM_017014839.2:c.997G>C, XM_017014839.1:c.997G>C, XM_017014841.2:c.997G>C, XM_017014841.1:c.997G>C, XM_017014842.2:c.997G>C, XM_017014842.1:c.997G>C, XM_017014843.2:c.997G>C, XM_017014843.1:c.997G>C, XM_047423521.1:c.997G>C, NM_001365029.1:c.997G>C, XM_047423519.1:c.808G>C, XM_047423520.1:c.997G>C, XR_007061321.1:n.1023G>C, XR_007061322.1:n.1023G>C, XP_006716856.1:p.Glu270Gln, NP_060208.2:p.Glu333Gln, NP_001107867.1:p.Glu333Gln, XP_011516243.1:p.Glu333Gln, XP_024303351.1:p.Glu333Gln, XP_016870328.1:p.Glu333Gln, XP_016870330.1:p.Glu333Gln, XP_016870331.1:p.Glu333Gln, XP_016870332.1:p.Glu333Gln, XP_047279477.1:p.Glu333Gln, NP_001351958.1:p.Glu333Gln, XP_047279475.1:p.Glu270Gln, XP_047279476.1:p.Glu333Gln

              7.

              rs1480790220 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                C>T [Show Flanks]
                Chromosome:
                9:17273837 (GRCh38)
                9:17273835 (GRCh37)
                Canonical SPDI:
                NC_000009.12:17273836:C:T
                Gene:
                CNTLN (Varview)
                Functional Consequence:
                non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                T=0.000071/1 (ALFA)
                T=0.000004/1 (TOPMED)
                HGVS:
                NC_000009.12:g.17273837C>T, NC_000009.11:g.17273835C>T, XM_006716793.5:c.765C>T, XM_006716793.4:c.765C>T, XM_006716793.3:c.765C>T, XM_006716793.2:c.765C>T, XM_006716793.1:c.765C>T, NM_017738.4:c.954C>T, NM_017738.3:c.954C>T, NM_017738.2:c.954C>T, NM_001114395.3:c.954C>T, NM_001114395.2:c.954C>T, NM_001114395.1:c.954C>T, XR_929282.3:n.980C>T, XR_929282.2:n.1029C>T, XR_929282.1:n.1029C>T, XM_011517941.3:c.954C>T, XM_011517941.2:c.954C>T, XM_011517941.1:c.954C>T, XM_024447583.2:c.954C>T, XM_024447583.1:c.954C>T, XM_017014839.2:c.954C>T, XM_017014839.1:c.954C>T, XM_017014841.2:c.954C>T, XM_017014841.1:c.954C>T, XM_017014842.2:c.954C>T, XM_017014842.1:c.954C>T, XM_017014843.2:c.954C>T, XM_017014843.1:c.954C>T, XM_047423521.1:c.954C>T, NM_001365029.1:c.954C>T, XM_047423519.1:c.765C>T, XM_047423520.1:c.954C>T, XR_007061321.1:n.980C>T, XR_007061322.1:n.980C>T

                8.

                rs1479784759 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>G [Show Flanks]
                  Chromosome:
                  9:17273760 (GRCh38)
                  9:17273758 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:17273759:A:G
                  Gene:
                  CNTLN (Varview)
                  Functional Consequence:
                  missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
                  HGVS:
                  NC_000009.12:g.17273760A>G, NC_000009.11:g.17273758A>G, XM_006716793.5:c.688A>G, XM_006716793.4:c.688A>G, XM_006716793.3:c.688A>G, XM_006716793.2:c.688A>G, XM_006716793.1:c.688A>G, NM_017738.4:c.877A>G, NM_017738.3:c.877A>G, NM_017738.2:c.877A>G, NM_001114395.3:c.877A>G, NM_001114395.2:c.877A>G, NM_001114395.1:c.877A>G, XR_929282.3:n.903A>G, XR_929282.2:n.952A>G, XR_929282.1:n.952A>G, XM_011517941.3:c.877A>G, XM_011517941.2:c.877A>G, XM_011517941.1:c.877A>G, XM_024447583.2:c.877A>G, XM_024447583.1:c.877A>G, XM_017014839.2:c.877A>G, XM_017014839.1:c.877A>G, XM_017014841.2:c.877A>G, XM_017014841.1:c.877A>G, XM_017014842.2:c.877A>G, XM_017014842.1:c.877A>G, XM_017014843.2:c.877A>G, XM_017014843.1:c.877A>G, XM_047423521.1:c.877A>G, NM_001365029.1:c.877A>G, XM_047423519.1:c.688A>G, XM_047423520.1:c.877A>G, XR_007061321.1:n.903A>G, XR_007061322.1:n.903A>G, XP_006716856.1:p.Arg230Gly, NP_060208.2:p.Arg293Gly, NP_001107867.1:p.Arg293Gly, XP_011516243.1:p.Arg293Gly, XP_024303351.1:p.Arg293Gly, XP_016870328.1:p.Arg293Gly, XP_016870330.1:p.Arg293Gly, XP_016870331.1:p.Arg293Gly, XP_016870332.1:p.Arg293Gly, XP_047279477.1:p.Arg293Gly, NP_001351958.1:p.Arg293Gly, XP_047279475.1:p.Arg230Gly, XP_047279476.1:p.Arg293Gly

                  9.

                  rs1479231223 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G [Show Flanks]
                    Chromosome:
                    9:17298244 (GRCh38)
                    9:17298242 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:17298243:C:G
                    Gene:
                    CNTLN (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    G=0./0 (ALFA)
                    G=0.000004/1 (GnomAD_exomes)
                    G=0.000019/5 (TOPMED)
                    HGVS:
                    NC_000009.12:g.17298244C>G, NC_000009.11:g.17298242C>G, XM_006716793.5:c.849C>G, XM_006716793.4:c.849C>G, XM_006716793.3:c.849C>G, XM_006716793.2:c.849C>G, XM_006716793.1:c.849C>G, NM_017738.4:c.1038C>G, NM_017738.3:c.1038C>G, NM_017738.2:c.1038C>G, NM_001114395.3:c.1038C>G, NM_001114395.2:c.1038C>G, NM_001114395.1:c.1038C>G, XR_929282.3:n.1064C>G, XR_929282.2:n.1113C>G, XR_929282.1:n.1113C>G, XM_011517941.3:c.1038C>G, XM_011517941.2:c.1038C>G, XM_011517941.1:c.1038C>G, XM_024447583.2:c.1038C>G, XM_024447583.1:c.1038C>G, XM_017014839.2:c.1038C>G, XM_017014839.1:c.1038C>G, XM_017014841.2:c.1038C>G, XM_017014841.1:c.1038C>G, XM_017014842.2:c.1038C>G, XM_017014842.1:c.1038C>G, XM_017014843.2:c.1038C>G, XM_017014843.1:c.1038C>G, XM_047423521.1:c.1038C>G, NM_001365029.1:c.1038C>G, XM_047423519.1:c.849C>G, XM_047423520.1:c.1038C>G, XR_007061321.1:n.1064C>G, XR_007061322.1:n.1064C>G

                    10.

                    rs1477777411 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      9:17135372 (GRCh38)
                      9:17135370 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:17135371:C:T
                      Gene:
                      CNTLN (Varview)
                      Functional Consequence:
                      intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000005/1 (GnomAD_exomes)
                      T=0.000011/3 (TOPMED)
                      HGVS:
                      NC_000009.12:g.17135372C>T, NC_000009.11:g.17135370C>T, NM_017738.4:c.307C>T, NM_017738.3:c.307C>T, NM_017738.2:c.307C>T, NM_001114395.3:c.307C>T, NM_001114395.2:c.307C>T, NM_001114395.1:c.307C>T, XR_929282.3:n.333C>T, XR_929282.2:n.382C>T, XR_929282.1:n.382C>T, XM_011517941.3:c.307C>T, XM_011517941.2:c.307C>T, XM_011517941.1:c.307C>T, XM_024447583.2:c.307C>T, XM_024447583.1:c.307C>T, XM_017014839.2:c.307C>T, XM_017014839.1:c.307C>T, XM_017014841.2:c.307C>T, XM_017014841.1:c.307C>T, XM_017014842.2:c.307C>T, XM_017014842.1:c.307C>T, XM_017014843.2:c.307C>T, XM_017014843.1:c.307C>T, NM_001286984.2:c.307C>T, NM_001286984.1:c.307C>T, XM_047423521.1:c.307C>T, NM_001365029.1:c.307C>T, XM_047423520.1:c.307C>T, XR_007061321.1:n.333C>T, XR_007061322.1:n.333C>T, NP_060208.2:p.Gln103Ter, NP_001107867.1:p.Gln103Ter, XP_011516243.1:p.Gln103Ter, XP_024303351.1:p.Gln103Ter, XP_016870328.1:p.Gln103Ter, XP_016870330.1:p.Gln103Ter, XP_016870331.1:p.Gln103Ter, XP_016870332.1:p.Gln103Ter, NP_001273913.1:p.Gln103Ter, XP_047279477.1:p.Gln103Ter, NP_001351958.1:p.Gln103Ter, XP_047279476.1:p.Gln103Ter

                      11.

                      rs1477309478 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>C,G [Show Flanks]
                        Chromosome:
                        9:17226211 (GRCh38)
                        9:17226209 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:17226210:A:C,NC_000009.12:17226210:A:G
                        Gene:
                        CNTLN (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        G=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        C=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000009.12:g.17226211A>C, NC_000009.12:g.17226211A>G, NC_000009.11:g.17226209A>C, NC_000009.11:g.17226209A>G, XM_006716793.5:c.269A>C, XM_006716793.5:c.269A>G, XM_006716793.4:c.269A>C, XM_006716793.4:c.269A>G, XM_006716793.3:c.269A>C, XM_006716793.3:c.269A>G, XM_006716793.2:c.269A>C, XM_006716793.2:c.269A>G, XM_006716793.1:c.269A>C, XM_006716793.1:c.269A>G, NM_017738.4:c.458A>C, NM_017738.4:c.458A>G, NM_017738.3:c.458A>C, NM_017738.3:c.458A>G, NM_017738.2:c.458A>C, NM_017738.2:c.458A>G, NM_001114395.3:c.458A>C, NM_001114395.3:c.458A>G, NM_001114395.2:c.458A>C, NM_001114395.2:c.458A>G, NM_001114395.1:c.458A>C, NM_001114395.1:c.458A>G, XR_929282.3:n.484A>C, XR_929282.3:n.484A>G, XR_929282.2:n.533A>C, XR_929282.2:n.533A>G, XR_929282.1:n.533A>C, XR_929282.1:n.533A>G, XM_011517941.3:c.458A>C, XM_011517941.3:c.458A>G, XM_011517941.2:c.458A>C, XM_011517941.2:c.458A>G, XM_011517941.1:c.458A>C, XM_011517941.1:c.458A>G, XM_024447583.2:c.458A>C, XM_024447583.2:c.458A>G, XM_024447583.1:c.458A>C, XM_024447583.1:c.458A>G, XM_017014839.2:c.458A>C, XM_017014839.2:c.458A>G, XM_017014839.1:c.458A>C, XM_017014839.1:c.458A>G, XM_017014841.2:c.458A>C, XM_017014841.2:c.458A>G, XM_017014841.1:c.458A>C, XM_017014841.1:c.458A>G, XM_017014842.2:c.458A>C, XM_017014842.2:c.458A>G, XM_017014842.1:c.458A>C, XM_017014842.1:c.458A>G, XM_017014843.2:c.458A>C, XM_017014843.2:c.458A>G, XM_017014843.1:c.458A>C, XM_017014843.1:c.458A>G, XM_047423521.1:c.458A>C, XM_047423521.1:c.458A>G, NM_001365029.1:c.458A>C, NM_001365029.1:c.458A>G, XM_047423519.1:c.269A>C, XM_047423519.1:c.269A>G, XM_047423520.1:c.458A>C, XM_047423520.1:c.458A>G, XR_007061321.1:n.484A>C, XR_007061321.1:n.484A>G, XR_007061322.1:n.484A>C, XR_007061322.1:n.484A>G, XP_006716856.1:p.Gln90Pro, XP_006716856.1:p.Gln90Arg, NP_060208.2:p.Gln153Pro, NP_060208.2:p.Gln153Arg, NP_001107867.1:p.Gln153Pro, NP_001107867.1:p.Gln153Arg, XP_011516243.1:p.Gln153Pro, XP_011516243.1:p.Gln153Arg, XP_024303351.1:p.Gln153Pro, XP_024303351.1:p.Gln153Arg, XP_016870328.1:p.Gln153Pro, XP_016870328.1:p.Gln153Arg, XP_016870330.1:p.Gln153Pro, XP_016870330.1:p.Gln153Arg, XP_016870331.1:p.Gln153Pro, XP_016870331.1:p.Gln153Arg, XP_016870332.1:p.Gln153Pro, XP_016870332.1:p.Gln153Arg, XP_047279477.1:p.Gln153Pro, XP_047279477.1:p.Gln153Arg, NP_001351958.1:p.Gln153Pro, NP_001351958.1:p.Gln153Arg, XP_047279475.1:p.Gln90Pro, XP_047279475.1:p.Gln90Arg, XP_047279476.1:p.Gln153Pro, XP_047279476.1:p.Gln153Arg

                        12.

                        rs1475574765 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          9:17298376 (GRCh38)
                          9:17298374 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:17298375:G:A
                          Gene:
                          CNTLN (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
                          HGVS:

                          13.

                          rs1472201762 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:17143366 (GRCh38)
                            9:17143364 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:17143365:G:A
                            Gene:
                            CNTLN (Varview)
                            Functional Consequence:
                            coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000051/1 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000009.12:g.17143366G>A, NC_000009.11:g.17143364G>A, XM_006716793.5:c.250G>A, XM_006716793.4:c.250G>A, XM_006716793.3:c.250G>A, XM_006716793.2:c.250G>A, XM_006716793.1:c.250G>A, NM_017738.4:c.439G>A, NM_017738.3:c.439G>A, NM_017738.2:c.439G>A, NM_001114395.3:c.439G>A, NM_001114395.2:c.439G>A, NM_001114395.1:c.439G>A, XR_929282.3:n.465G>A, XR_929282.2:n.514G>A, XR_929282.1:n.514G>A, XM_011517941.3:c.439G>A, XM_011517941.2:c.439G>A, XM_011517941.1:c.439G>A, XM_024447583.2:c.439G>A, XM_024447583.1:c.439G>A, XM_017014839.2:c.439G>A, XM_017014839.1:c.439G>A, XM_017014841.2:c.439G>A, XM_017014841.1:c.439G>A, XM_017014842.2:c.439G>A, XM_017014842.1:c.439G>A, XM_017014843.2:c.439G>A, XM_017014843.1:c.439G>A, NM_001286984.2:c.439G>A, NM_001286984.1:c.439G>A, NM_001286985.2:c.250G>A, NM_001286985.1:c.250G>A, XM_047423521.1:c.439G>A, NM_001365029.1:c.439G>A, XM_047423519.1:c.250G>A, XM_047423520.1:c.439G>A, XR_007061321.1:n.465G>A, XR_007061322.1:n.465G>A, XP_006716856.1:p.Val84Ile, NP_060208.2:p.Val147Ile, NP_001107867.1:p.Val147Ile, XP_011516243.1:p.Val147Ile, XP_024303351.1:p.Val147Ile, XP_016870328.1:p.Val147Ile, XP_016870330.1:p.Val147Ile, XP_016870331.1:p.Val147Ile, XP_016870332.1:p.Val147Ile, NP_001273913.1:p.Val147Ile, NP_001273914.1:p.Val84Ile, XP_047279477.1:p.Val147Ile, NP_001351958.1:p.Val147Ile, XP_047279475.1:p.Val84Ile, XP_047279476.1:p.Val147Ile

                            14.

                            rs1470419196 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              9:17135253 (GRCh38)
                              9:17135251 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:17135252:C:T
                              Gene:
                              CNTLN (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              T=0.000004/1 (TOPMED)
                              T=0.000007/1 (GnomAD)
                              T=0.000012/1 (ExAC)
                              HGVS:
                              NC_000009.12:g.17135253C>T, NC_000009.11:g.17135251C>T, NM_017738.4:c.188C>T, NM_017738.3:c.188C>T, NM_017738.2:c.188C>T, NM_001114395.3:c.188C>T, NM_001114395.2:c.188C>T, NM_001114395.1:c.188C>T, XR_929282.3:n.214C>T, XR_929282.2:n.263C>T, XR_929282.1:n.263C>T, XM_011517941.3:c.188C>T, XM_011517941.2:c.188C>T, XM_011517941.1:c.188C>T, XM_024447583.2:c.188C>T, XM_024447583.1:c.188C>T, XM_017014839.2:c.188C>T, XM_017014839.1:c.188C>T, XM_017014841.2:c.188C>T, XM_017014841.1:c.188C>T, XM_017014842.2:c.188C>T, XM_017014842.1:c.188C>T, XM_017014843.2:c.188C>T, XM_017014843.1:c.188C>T, NM_001286984.2:c.188C>T, NM_001286984.1:c.188C>T, XM_047423521.1:c.188C>T, NM_001365029.1:c.188C>T, XM_047423520.1:c.188C>T, XR_007061321.1:n.214C>T, XR_007061322.1:n.214C>T, NP_060208.2:p.Ser63Leu, NP_001107867.1:p.Ser63Leu, XP_011516243.1:p.Ser63Leu, XP_024303351.1:p.Ser63Leu, XP_016870328.1:p.Ser63Leu, XP_016870330.1:p.Ser63Leu, XP_016870331.1:p.Ser63Leu, XP_016870332.1:p.Ser63Leu, NP_001273913.1:p.Ser63Leu, XP_047279477.1:p.Ser63Leu, NP_001351958.1:p.Ser63Leu, XP_047279476.1:p.Ser63Leu

                              15.

                              rs1469920801 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>G [Show Flanks]
                                Chromosome:
                                9:17135106 (GRCh38)
                                9:17135104 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:17135105:C:G
                                Gene:
                                CNTLN (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                Validated:
                                by frequency
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.17135106C>G, NC_000009.11:g.17135104C>G, XM_006716793.5:c.41C>G, XM_006716793.4:c.41C>G, XM_006716793.3:c.41C>G, XM_006716793.2:c.41C>G, XM_006716793.1:c.41C>G, NM_017738.4:c.41C>G, NM_017738.3:c.41C>G, NM_017738.2:c.41C>G, NM_001114395.3:c.41C>G, NM_001114395.2:c.41C>G, NM_001114395.1:c.41C>G, XR_929282.3:n.67C>G, XR_929282.2:n.116C>G, XR_929282.1:n.116C>G, XM_011517941.3:c.41C>G, XM_011517941.2:c.41C>G, XM_011517941.1:c.41C>G, XM_024447583.2:c.41C>G, XM_024447583.1:c.41C>G, XM_017014839.2:c.41C>G, XM_017014839.1:c.41C>G, XM_017014841.2:c.41C>G, XM_017014841.1:c.41C>G, XM_017014842.2:c.41C>G, XM_017014842.1:c.41C>G, XM_017014843.2:c.41C>G, XM_017014843.1:c.41C>G, NM_001286984.2:c.41C>G, NM_001286984.1:c.41C>G, NM_001286985.2:c.41C>G, NM_001286985.1:c.41C>G, XM_047423521.1:c.41C>G, NM_001365029.1:c.41C>G, XM_047423519.1:c.41C>G, XM_047423520.1:c.41C>G, XR_007061321.1:n.67C>G, XR_007061322.1:n.67C>G, XP_006716856.1:p.Pro14Arg, NP_060208.2:p.Pro14Arg, NP_001107867.1:p.Pro14Arg, XP_011516243.1:p.Pro14Arg, XP_024303351.1:p.Pro14Arg, XP_016870328.1:p.Pro14Arg, XP_016870330.1:p.Pro14Arg, XP_016870331.1:p.Pro14Arg, XP_016870332.1:p.Pro14Arg, NP_001273913.1:p.Pro14Arg, NP_001273914.1:p.Pro14Arg, XP_047279477.1:p.Pro14Arg, NP_001351958.1:p.Pro14Arg, XP_047279475.1:p.Pro14Arg, XP_047279476.1:p.Pro14Arg

                                16.

                                rs1468172372 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  A>G [Show Flanks]
                                  Chromosome:
                                  9:17273822 (GRCh38)
                                  9:17273820 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:17273821:A:G
                                  Gene:
                                  CNTLN (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.17273822A>G, NC_000009.11:g.17273820A>G, XM_006716793.5:c.750A>G, XM_006716793.4:c.750A>G, XM_006716793.3:c.750A>G, XM_006716793.2:c.750A>G, XM_006716793.1:c.750A>G, NM_017738.4:c.939A>G, NM_017738.3:c.939A>G, NM_017738.2:c.939A>G, NM_001114395.3:c.939A>G, NM_001114395.2:c.939A>G, NM_001114395.1:c.939A>G, XR_929282.3:n.965A>G, XR_929282.2:n.1014A>G, XR_929282.1:n.1014A>G, XM_011517941.3:c.939A>G, XM_011517941.2:c.939A>G, XM_011517941.1:c.939A>G, XM_024447583.2:c.939A>G, XM_024447583.1:c.939A>G, XM_017014839.2:c.939A>G, XM_017014839.1:c.939A>G, XM_017014841.2:c.939A>G, XM_017014841.1:c.939A>G, XM_017014842.2:c.939A>G, XM_017014842.1:c.939A>G, XM_017014843.2:c.939A>G, XM_017014843.1:c.939A>G, XM_047423521.1:c.939A>G, NM_001365029.1:c.939A>G, XM_047423519.1:c.750A>G, XM_047423520.1:c.939A>G, XR_007061321.1:n.965A>G, XR_007061322.1:n.965A>G

                                  17.

                                  rs1467697613 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>T [Show Flanks]
                                    Chromosome:
                                    9:17135413 (GRCh38)
                                    9:17135411 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:17135412:G:T
                                    Gene:
                                    CNTLN (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    T=0./0 (ALFA)
                                    HGVS:
                                    NC_000009.12:g.17135413G>T, NC_000009.11:g.17135411G>T, NM_017738.4:c.348G>T, NM_017738.3:c.348G>T, NM_017738.2:c.348G>T, NM_001114395.3:c.348G>T, NM_001114395.2:c.348G>T, NM_001114395.1:c.348G>T, XR_929282.3:n.374G>T, XR_929282.2:n.423G>T, XR_929282.1:n.423G>T, XM_011517941.3:c.348G>T, XM_011517941.2:c.348G>T, XM_011517941.1:c.348G>T, XM_024447583.2:c.348G>T, XM_024447583.1:c.348G>T, XM_017014839.2:c.348G>T, XM_017014839.1:c.348G>T, XM_017014841.2:c.348G>T, XM_017014841.1:c.348G>T, XM_017014842.2:c.348G>T, XM_017014842.1:c.348G>T, XM_017014843.2:c.348G>T, XM_017014843.1:c.348G>T, NM_001286984.2:c.348G>T, NM_001286984.1:c.348G>T, XM_047423521.1:c.348G>T, NM_001365029.1:c.348G>T, XM_047423520.1:c.348G>T, XR_007061321.1:n.374G>T, XR_007061322.1:n.374G>T, NP_060208.2:p.Leu116Phe, NP_001107867.1:p.Leu116Phe, XP_011516243.1:p.Leu116Phe, XP_024303351.1:p.Leu116Phe, XP_016870328.1:p.Leu116Phe, XP_016870330.1:p.Leu116Phe, XP_016870331.1:p.Leu116Phe, XP_016870332.1:p.Leu116Phe, NP_001273913.1:p.Leu116Phe, XP_047279477.1:p.Leu116Phe, NP_001351958.1:p.Leu116Phe, XP_047279476.1:p.Leu116Phe

                                    18.

                                    rs1467457402 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G [Show Flanks]
                                      Chromosome:
                                      9:17298358 (GRCh38)
                                      9:17298356 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:17298357:C:G
                                      Gene:
                                      CNTLN (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (GnomAD_exomes)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:

                                      19.

                                      rs1463214421 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>T [Show Flanks]
                                        Chromosome:
                                        9:17135277 (GRCh38)
                                        9:17135275 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:17135276:G:T
                                        Gene:
                                        CNTLN (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000005/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000009.12:g.17135277G>T, NC_000009.11:g.17135275G>T, NM_017738.4:c.212G>T, NM_017738.3:c.212G>T, NM_017738.2:c.212G>T, NM_001114395.3:c.212G>T, NM_001114395.2:c.212G>T, NM_001114395.1:c.212G>T, XR_929282.3:n.238G>T, XR_929282.2:n.287G>T, XR_929282.1:n.287G>T, XM_011517941.3:c.212G>T, XM_011517941.2:c.212G>T, XM_011517941.1:c.212G>T, XM_024447583.2:c.212G>T, XM_024447583.1:c.212G>T, XM_017014839.2:c.212G>T, XM_017014839.1:c.212G>T, XM_017014841.2:c.212G>T, XM_017014841.1:c.212G>T, XM_017014842.2:c.212G>T, XM_017014842.1:c.212G>T, XM_017014843.2:c.212G>T, XM_017014843.1:c.212G>T, NM_001286984.2:c.212G>T, NM_001286984.1:c.212G>T, XM_047423521.1:c.212G>T, NM_001365029.1:c.212G>T, XM_047423520.1:c.212G>T, XR_007061321.1:n.238G>T, XR_007061322.1:n.238G>T, NP_060208.2:p.Gly71Val, NP_001107867.1:p.Gly71Val, XP_011516243.1:p.Gly71Val, XP_024303351.1:p.Gly71Val, XP_016870328.1:p.Gly71Val, XP_016870330.1:p.Gly71Val, XP_016870331.1:p.Gly71Val, XP_016870332.1:p.Gly71Val, NP_001273913.1:p.Gly71Val, XP_047279477.1:p.Gly71Val, NP_001351958.1:p.Gly71Val, XP_047279476.1:p.Gly71Val

                                        20.

                                        rs1462655998 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          9:17135091 (GRCh38)
                                          9:17135089 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:17135090:C:T
                                          Gene:
                                          CNTLN (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (TOPMED)
                                          HGVS:
                                          NC_000009.12:g.17135091C>T, NC_000009.11:g.17135089C>T, XM_006716793.5:c.26C>T, XM_006716793.4:c.26C>T, XM_006716793.3:c.26C>T, XM_006716793.2:c.26C>T, XM_006716793.1:c.26C>T, NM_017738.4:c.26C>T, NM_017738.3:c.26C>T, NM_017738.2:c.26C>T, NM_001114395.3:c.26C>T, NM_001114395.2:c.26C>T, NM_001114395.1:c.26C>T, XR_929282.3:n.52C>T, XR_929282.2:n.101C>T, XR_929282.1:n.101C>T, XM_011517941.3:c.26C>T, XM_011517941.2:c.26C>T, XM_011517941.1:c.26C>T, XM_024447583.2:c.26C>T, XM_024447583.1:c.26C>T, XM_017014839.2:c.26C>T, XM_017014839.1:c.26C>T, XM_017014841.2:c.26C>T, XM_017014841.1:c.26C>T, XM_017014842.2:c.26C>T, XM_017014842.1:c.26C>T, XM_017014843.2:c.26C>T, XM_017014843.1:c.26C>T, NM_001286984.2:c.26C>T, NM_001286984.1:c.26C>T, NM_001286985.2:c.26C>T, NM_001286985.1:c.26C>T, XM_047423521.1:c.26C>T, NM_001365029.1:c.26C>T, XM_047423519.1:c.26C>T, XM_047423520.1:c.26C>T, XR_007061321.1:n.52C>T, XR_007061322.1:n.52C>T, XP_006716856.1:p.Pro9Leu, NP_060208.2:p.Pro9Leu, NP_001107867.1:p.Pro9Leu, XP_011516243.1:p.Pro9Leu, XP_024303351.1:p.Pro9Leu, XP_016870328.1:p.Pro9Leu, XP_016870330.1:p.Pro9Leu, XP_016870331.1:p.Pro9Leu, XP_016870332.1:p.Pro9Leu, NP_001273913.1:p.Pro9Leu, NP_001273914.1:p.Pro9Leu, XP_047279477.1:p.Pro9Leu, NP_001351958.1:p.Pro9Leu, XP_047279475.1:p.Pro9Leu, XP_047279476.1:p.Pro9Leu

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