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Items: 1 to 20 of 821

1.

rs1490784299 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    9:17416089 (GRCh38)
    9:17416087 (GRCh37)
    Canonical SPDI:
    NC_000009.12:17416088:C:T
    Gene:
    CNTLN (Varview)
    Functional Consequence:
    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0.000071/1 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (GnomAD_exomes)
    T=0.000015/4 (TOPMED)
    HGVS:
    NC_000009.12:g.17416089C>T, NC_000009.11:g.17416087C>T, XM_006716793.5:c.2825C>T, XM_006716793.4:c.2825C>T, XM_006716793.3:c.2825C>T, XM_006716793.2:c.2825C>T, XM_006716793.1:c.2825C>T, NM_017738.4:c.3014C>T, NM_017738.3:c.3014C>T, NM_017738.2:c.3014C>T, XM_017014847.3:c.959C>T, XM_017014847.2:c.959C>T, XM_017014847.1:c.959C>T, XM_017014845.3:c.1313C>T, XM_017014845.2:c.1313C>T, XM_017014845.1:c.1313C>T, XR_929282.3:n.3040C>T, XR_929282.2:n.3089C>T, XR_929282.1:n.3089C>T, XM_011517941.3:c.3014C>T, XM_011517941.2:c.3014C>T, XM_011517941.1:c.3014C>T, XM_024447583.2:c.3014C>T, XM_024447583.1:c.3014C>T, XM_017014839.2:c.3014C>T, XM_017014839.1:c.3014C>T, XM_017014841.2:c.2819C>T, XM_017014841.1:c.2819C>T, XM_017014842.2:c.3014C>T, XM_017014842.1:c.3014C>T, XM_017014846.2:c.959C>T, XM_017014846.1:c.959C>T, XM_017014843.2:c.3014C>T, XM_017014843.1:c.3014C>T, XM_047423521.1:c.3011C>T, NM_001365029.1:c.3011C>T, XM_047423519.1:c.2822C>T, XM_047423520.1:c.2816C>T, XR_007061321.1:n.3040C>T, XR_007061322.1:n.3037C>T, XM_017014844.1:c.1634C>T, XM_047423522.1:c.1184C>T, XP_006716856.1:p.Ala942Val, NP_060208.2:p.Ala1005Val, XP_016870336.1:p.Ala320Val, XP_016870334.1:p.Ala438Val, XP_011516243.1:p.Ala1005Val, XP_024303351.1:p.Ala1005Val, XP_016870328.1:p.Ala1005Val, XP_016870330.1:p.Ala940Val, XP_016870331.1:p.Ala1005Val, XP_016870335.1:p.Ala320Val, XP_016870332.1:p.Ala1005Val, XP_047279477.1:p.Ala1004Val, NP_001351958.1:p.Ala1004Val, XP_047279475.1:p.Ala941Val, XP_047279476.1:p.Ala939Val, XP_016870333.1:p.Ala545Val, XP_047279478.1:p.Ala395Val

    2.

    rs1489873795 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A,T [Show Flanks]
      Chromosome:
      9:17394672 (GRCh38)
      9:17394670 (GRCh37)
      Canonical SPDI:
      NC_000009.12:17394671:G:A,NC_000009.12:17394671:G:T
      Gene:
      CNTLN (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,stop_gained
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0./0 (ALFA)
      A=0.000004/1 (TOPMED)
      A=0.000007/1 (GnomAD)
      HGVS:
      NC_000009.12:g.17394672G>A, NC_000009.12:g.17394672G>T, NC_000009.11:g.17394670G>A, NC_000009.11:g.17394670G>T, XM_006716793.5:c.2029G>A, XM_006716793.5:c.2029G>T, XM_006716793.4:c.2029G>A, XM_006716793.4:c.2029G>T, XM_006716793.3:c.2029G>A, XM_006716793.3:c.2029G>T, XM_006716793.2:c.2029G>A, XM_006716793.2:c.2029G>T, XM_006716793.1:c.2029G>A, XM_006716793.1:c.2029G>T, NM_017738.4:c.2218G>A, NM_017738.4:c.2218G>T, NM_017738.3:c.2218G>A, NM_017738.3:c.2218G>T, NM_017738.2:c.2218G>A, NM_017738.2:c.2218G>T, XM_017014847.3:c.163G>A, XM_017014847.3:c.163G>T, XM_017014847.2:c.163G>A, XM_017014847.2:c.163G>T, XM_017014847.1:c.163G>A, XM_017014847.1:c.163G>T, XM_017014845.3:c.517G>A, XM_017014845.3:c.517G>T, XM_017014845.2:c.517G>A, XM_017014845.2:c.517G>T, XM_017014845.1:c.517G>A, XM_017014845.1:c.517G>T, XR_929282.3:n.2244G>A, XR_929282.3:n.2244G>T, XR_929282.2:n.2293G>A, XR_929282.2:n.2293G>T, XR_929282.1:n.2293G>A, XR_929282.1:n.2293G>T, XM_011517941.3:c.2218G>A, XM_011517941.3:c.2218G>T, XM_011517941.2:c.2218G>A, XM_011517941.2:c.2218G>T, XM_011517941.1:c.2218G>A, XM_011517941.1:c.2218G>T, XM_024447583.2:c.2218G>A, XM_024447583.2:c.2218G>T, XM_024447583.1:c.2218G>A, XM_024447583.1:c.2218G>T, XM_017014839.2:c.2218G>A, XM_017014839.2:c.2218G>T, XM_017014839.1:c.2218G>A, XM_017014839.1:c.2218G>T, XM_017014841.2:c.2023G>A, XM_017014841.2:c.2023G>T, XM_017014841.1:c.2023G>A, XM_017014841.1:c.2023G>T, XM_017014842.2:c.2218G>A, XM_017014842.2:c.2218G>T, XM_017014842.1:c.2218G>A, XM_017014842.1:c.2218G>T, XM_017014846.2:c.163G>A, XM_017014846.2:c.163G>T, XM_017014846.1:c.163G>A, XM_017014846.1:c.163G>T, XM_017014843.2:c.2218G>A, XM_017014843.2:c.2218G>T, XM_017014843.1:c.2218G>A, XM_017014843.1:c.2218G>T, XM_047423521.1:c.2218G>A, XM_047423521.1:c.2218G>T, NM_001365029.1:c.2218G>A, NM_001365029.1:c.2218G>T, XM_047423519.1:c.2029G>A, XM_047423519.1:c.2029G>T, XM_047423520.1:c.2023G>A, XM_047423520.1:c.2023G>T, XR_007061321.1:n.2244G>A, XR_007061321.1:n.2244G>T, XR_007061322.1:n.2244G>A, XR_007061322.1:n.2244G>T, XM_017014844.1:c.838G>A, XM_017014844.1:c.838G>T, XM_047423522.1:c.391G>A, XM_047423522.1:c.391G>T, XP_006716856.1:p.Glu677Lys, XP_006716856.1:p.Glu677Ter, NP_060208.2:p.Glu740Lys, NP_060208.2:p.Glu740Ter, XP_016870336.1:p.Glu55Lys, XP_016870336.1:p.Glu55Ter, XP_016870334.1:p.Glu173Lys, XP_016870334.1:p.Glu173Ter, XP_011516243.1:p.Glu740Lys, XP_011516243.1:p.Glu740Ter, XP_024303351.1:p.Glu740Lys, XP_024303351.1:p.Glu740Ter, XP_016870328.1:p.Glu740Lys, XP_016870328.1:p.Glu740Ter, XP_016870330.1:p.Glu675Lys, XP_016870330.1:p.Glu675Ter, XP_016870331.1:p.Glu740Lys, XP_016870331.1:p.Glu740Ter, XP_016870335.1:p.Glu55Lys, XP_016870335.1:p.Glu55Ter, XP_016870332.1:p.Glu740Lys, XP_016870332.1:p.Glu740Ter, XP_047279477.1:p.Glu740Lys, XP_047279477.1:p.Glu740Ter, NP_001351958.1:p.Glu740Lys, NP_001351958.1:p.Glu740Ter, XP_047279475.1:p.Glu677Lys, XP_047279475.1:p.Glu677Ter, XP_047279476.1:p.Glu675Lys, XP_047279476.1:p.Glu675Ter, XP_016870333.1:p.Glu280Lys, XP_016870333.1:p.Glu280Ter, XP_047279478.1:p.Glu131Lys, XP_047279478.1:p.Glu131Ter

      3.

      rs1489287053 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        9:17394554 (GRCh38)
        9:17394552 (GRCh37)
        Canonical SPDI:
        NC_000009.12:17394553:G:A,NC_000009.12:17394553:G:T
        Gene:
        CNTLN (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.17394554G>A, NC_000009.12:g.17394554G>T, NC_000009.11:g.17394552G>A, NC_000009.11:g.17394552G>T, XM_006716793.5:c.1911G>A, XM_006716793.5:c.1911G>T, XM_006716793.4:c.1911G>A, XM_006716793.4:c.1911G>T, XM_006716793.3:c.1911G>A, XM_006716793.3:c.1911G>T, XM_006716793.2:c.1911G>A, XM_006716793.2:c.1911G>T, XM_006716793.1:c.1911G>A, XM_006716793.1:c.1911G>T, NM_017738.4:c.2100G>A, NM_017738.4:c.2100G>T, NM_017738.3:c.2100G>A, NM_017738.3:c.2100G>T, NM_017738.2:c.2100G>A, NM_017738.2:c.2100G>T, XM_017014847.3:c.45G>A, XM_017014847.3:c.45G>T, XM_017014847.2:c.45G>A, XM_017014847.2:c.45G>T, XM_017014847.1:c.45G>A, XM_017014847.1:c.45G>T, XM_017014845.3:c.399G>A, XM_017014845.3:c.399G>T, XM_017014845.2:c.399G>A, XM_017014845.2:c.399G>T, XM_017014845.1:c.399G>A, XM_017014845.1:c.399G>T, XR_929282.3:n.2126G>A, XR_929282.3:n.2126G>T, XR_929282.2:n.2175G>A, XR_929282.2:n.2175G>T, XR_929282.1:n.2175G>A, XR_929282.1:n.2175G>T, XM_011517941.3:c.2100G>A, XM_011517941.3:c.2100G>T, XM_011517941.2:c.2100G>A, XM_011517941.2:c.2100G>T, XM_011517941.1:c.2100G>A, XM_011517941.1:c.2100G>T, XM_024447583.2:c.2100G>A, XM_024447583.2:c.2100G>T, XM_024447583.1:c.2100G>A, XM_024447583.1:c.2100G>T, XM_017014839.2:c.2100G>A, XM_017014839.2:c.2100G>T, XM_017014839.1:c.2100G>A, XM_017014839.1:c.2100G>T, XM_017014841.2:c.1905G>A, XM_017014841.2:c.1905G>T, XM_017014841.1:c.1905G>A, XM_017014841.1:c.1905G>T, XM_017014842.2:c.2100G>A, XM_017014842.2:c.2100G>T, XM_017014842.1:c.2100G>A, XM_017014842.1:c.2100G>T, XM_017014846.2:c.45G>A, XM_017014846.2:c.45G>T, XM_017014846.1:c.45G>A, XM_017014846.1:c.45G>T, XM_017014843.2:c.2100G>A, XM_017014843.2:c.2100G>T, XM_017014843.1:c.2100G>A, XM_017014843.1:c.2100G>T, XM_047423521.1:c.2100G>A, XM_047423521.1:c.2100G>T, NM_001365029.1:c.2100G>A, NM_001365029.1:c.2100G>T, XM_047423519.1:c.1911G>A, XM_047423519.1:c.1911G>T, XM_047423520.1:c.1905G>A, XM_047423520.1:c.1905G>T, XR_007061321.1:n.2126G>A, XR_007061321.1:n.2126G>T, XR_007061322.1:n.2126G>A, XR_007061322.1:n.2126G>T, XM_017014844.1:c.720G>A, XM_017014844.1:c.720G>T, XM_047423522.1:c.273G>A, XM_047423522.1:c.273G>T

        4.

        rs1488528815 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C [Show Flanks]
          Chromosome:
          9:17394665 (GRCh38)
          9:17394663 (GRCh37)
          Canonical SPDI:
          NC_000009.12:17394664:G:C
          Gene:
          CNTLN (Varview)
          Functional Consequence:
          coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.000162/3 (ALFA)
          C=0.000004/1 (TOPMED)
          C=0.000021/3 (GnomAD)
          C=0.00067/3 (Estonian)
          HGVS:
          NC_000009.12:g.17394665G>C, NC_000009.11:g.17394663G>C, XM_006716793.5:c.2022G>C, XM_006716793.4:c.2022G>C, XM_006716793.3:c.2022G>C, XM_006716793.2:c.2022G>C, XM_006716793.1:c.2022G>C, NM_017738.4:c.2211G>C, NM_017738.3:c.2211G>C, NM_017738.2:c.2211G>C, XM_017014847.3:c.156G>C, XM_017014847.2:c.156G>C, XM_017014847.1:c.156G>C, XM_017014845.3:c.510G>C, XM_017014845.2:c.510G>C, XM_017014845.1:c.510G>C, XR_929282.3:n.2237G>C, XR_929282.2:n.2286G>C, XR_929282.1:n.2286G>C, XM_011517941.3:c.2211G>C, XM_011517941.2:c.2211G>C, XM_011517941.1:c.2211G>C, XM_024447583.2:c.2211G>C, XM_024447583.1:c.2211G>C, XM_017014839.2:c.2211G>C, XM_017014839.1:c.2211G>C, XM_017014841.2:c.2016G>C, XM_017014841.1:c.2016G>C, XM_017014842.2:c.2211G>C, XM_017014842.1:c.2211G>C, XM_017014846.2:c.156G>C, XM_017014846.1:c.156G>C, XM_017014843.2:c.2211G>C, XM_017014843.1:c.2211G>C, XM_047423521.1:c.2211G>C, NM_001365029.1:c.2211G>C, XM_047423519.1:c.2022G>C, XM_047423520.1:c.2016G>C, XR_007061321.1:n.2237G>C, XR_007061322.1:n.2237G>C, XM_017014844.1:c.831G>C, XM_047423522.1:c.384G>C, XP_006716856.1:p.Glu674Asp, NP_060208.2:p.Glu737Asp, XP_016870336.1:p.Glu52Asp, XP_016870334.1:p.Glu170Asp, XP_011516243.1:p.Glu737Asp, XP_024303351.1:p.Glu737Asp, XP_016870328.1:p.Glu737Asp, XP_016870330.1:p.Glu672Asp, XP_016870331.1:p.Glu737Asp, XP_016870335.1:p.Glu52Asp, XP_016870332.1:p.Glu737Asp, XP_047279477.1:p.Glu737Asp, NP_001351958.1:p.Glu737Asp, XP_047279475.1:p.Glu674Asp, XP_047279476.1:p.Glu672Asp, XP_016870333.1:p.Glu277Asp, XP_047279478.1:p.Glu128Asp

          5.

          rs1488448389 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>A [Show Flanks]
            Chromosome:
            9:17394990 (GRCh38)
            9:17394988 (GRCh37)
            Canonical SPDI:
            NC_000009.12:17394989:C:A
            Gene:
            CNTLN (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
            HGVS:
            NC_000009.12:g.17394990C>A, NC_000009.11:g.17394988C>A, XM_006716793.5:c.2347C>A, XM_006716793.4:c.2347C>A, XM_006716793.3:c.2347C>A, XM_006716793.2:c.2347C>A, XM_006716793.1:c.2347C>A, NM_017738.4:c.2536C>A, NM_017738.3:c.2536C>A, NM_017738.2:c.2536C>A, XM_017014847.3:c.481C>A, XM_017014847.2:c.481C>A, XM_017014847.1:c.481C>A, XM_017014845.3:c.835C>A, XM_017014845.2:c.835C>A, XM_017014845.1:c.835C>A, XR_929282.3:n.2562C>A, XR_929282.2:n.2611C>A, XR_929282.1:n.2611C>A, XM_011517941.3:c.2536C>A, XM_011517941.2:c.2536C>A, XM_011517941.1:c.2536C>A, XM_024447583.2:c.2536C>A, XM_024447583.1:c.2536C>A, XM_017014839.2:c.2536C>A, XM_017014839.1:c.2536C>A, XM_017014841.2:c.2341C>A, XM_017014841.1:c.2341C>A, XM_017014842.2:c.2536C>A, XM_017014842.1:c.2536C>A, XM_017014846.2:c.481C>A, XM_017014846.1:c.481C>A, XM_017014843.2:c.2536C>A, XM_017014843.1:c.2536C>A, XM_047423521.1:c.2536C>A, NM_001365029.1:c.2536C>A, XM_047423519.1:c.2347C>A, XM_047423520.1:c.2341C>A, XR_007061321.1:n.2562C>A, XR_007061322.1:n.2562C>A, XM_017014844.1:c.1156C>A, XM_047423522.1:c.709C>A, XP_006716856.1:p.Leu783Ile, NP_060208.2:p.Leu846Ile, XP_016870336.1:p.Leu161Ile, XP_016870334.1:p.Leu279Ile, XP_011516243.1:p.Leu846Ile, XP_024303351.1:p.Leu846Ile, XP_016870328.1:p.Leu846Ile, XP_016870330.1:p.Leu781Ile, XP_016870331.1:p.Leu846Ile, XP_016870335.1:p.Leu161Ile, XP_016870332.1:p.Leu846Ile, XP_047279477.1:p.Leu846Ile, NP_001351958.1:p.Leu846Ile, XP_047279475.1:p.Leu783Ile, XP_047279476.1:p.Leu781Ile, XP_016870333.1:p.Leu386Ile, XP_047279478.1:p.Leu237Ile

            6.

            rs1486028560 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              9:17484454 (GRCh38)
              9:17484452 (GRCh37)
              Canonical SPDI:
              NC_000009.12:17484453:G:A
              Gene:
              CNTLN (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000007/1 (GnomAD)
              HGVS:
              NC_000009.12:g.17484454G>A, NC_000009.11:g.17484452G>A, XM_006716793.5:c.3826G>A, XM_006716793.4:c.3826G>A, XM_006716793.3:c.3826G>A, XM_006716793.2:c.3826G>A, XM_006716793.1:c.3826G>A, NM_017738.4:c.4015G>A, NM_017738.3:c.4015G>A, NM_017738.2:c.4015G>A, XM_017014847.3:c.1960G>A, XM_017014847.2:c.1960G>A, XM_017014847.1:c.1960G>A, XM_017014845.3:c.2314G>A, XM_017014845.2:c.2314G>A, XM_017014845.1:c.2314G>A, XM_017014839.2:c.4015G>A, XM_017014839.1:c.4015G>A, XM_017014841.2:c.3820G>A, XM_017014841.1:c.3820G>A, XM_017014846.2:c.1960G>A, XM_017014846.1:c.1960G>A, NM_001365029.1:c.4012G>A, XM_047423519.1:c.3823G>A, XM_047423520.1:c.3817G>A, XR_007061321.1:n.4041G>A, XR_007061322.1:n.4038G>A, XM_017014844.1:c.2635G>A, XM_047423522.1:c.2185G>A, XP_006716856.1:p.Glu1276Lys, NP_060208.2:p.Glu1339Lys, XP_016870336.1:p.Glu654Lys, XP_016870334.1:p.Glu772Lys, XP_016870328.1:p.Glu1339Lys, XP_016870330.1:p.Glu1274Lys, XP_016870335.1:p.Glu654Lys, NP_001351958.1:p.Glu1338Lys, XP_047279475.1:p.Glu1275Lys, XP_047279476.1:p.Glu1273Lys, XP_016870333.1:p.Glu879Lys, XP_047279478.1:p.Glu729Lys

              7.

              rs1484405196 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                9:17409411 (GRCh38)
                9:17409409 (GRCh37)
                Canonical SPDI:
                NC_000009.12:17409410:A:G
                Gene:
                CNTLN (Varview)
                Functional Consequence:
                coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0.000028/1 (ALFA)
                G=0.000004/1 (TOPMED)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000009.12:g.17409411A>G, NC_000009.11:g.17409409A>G, XM_006716793.5:c.2545A>G, XM_006716793.4:c.2545A>G, XM_006716793.3:c.2545A>G, XM_006716793.2:c.2545A>G, XM_006716793.1:c.2545A>G, NM_017738.4:c.2734A>G, NM_017738.3:c.2734A>G, NM_017738.2:c.2734A>G, XM_017014847.3:c.679A>G, XM_017014847.2:c.679A>G, XM_017014847.1:c.679A>G, XM_017014845.3:c.1033A>G, XM_017014845.2:c.1033A>G, XM_017014845.1:c.1033A>G, XR_929282.3:n.2760A>G, XR_929282.2:n.2809A>G, XR_929282.1:n.2809A>G, XM_011517941.3:c.2734A>G, XM_011517941.2:c.2734A>G, XM_011517941.1:c.2734A>G, XM_024447583.2:c.2734A>G, XM_024447583.1:c.2734A>G, XM_017014839.2:c.2734A>G, XM_017014839.1:c.2734A>G, XM_017014841.2:c.2539A>G, XM_017014841.1:c.2539A>G, XM_017014842.2:c.2734A>G, XM_017014842.1:c.2734A>G, XM_017014846.2:c.679A>G, XM_017014846.1:c.679A>G, XM_017014843.2:c.2734A>G, XM_017014843.1:c.2734A>G, XM_047423521.1:c.2731A>G, NM_001365029.1:c.2731A>G, XM_047423519.1:c.2542A>G, XM_047423520.1:c.2536A>G, XR_007061321.1:n.2760A>G, XR_007061322.1:n.2757A>G, XM_017014844.1:c.1354A>G, XM_047423522.1:c.904A>G, XP_006716856.1:p.Ser849Gly, NP_060208.2:p.Ser912Gly, XP_016870336.1:p.Ser227Gly, XP_016870334.1:p.Ser345Gly, XP_011516243.1:p.Ser912Gly, XP_024303351.1:p.Ser912Gly, XP_016870328.1:p.Ser912Gly, XP_016870330.1:p.Ser847Gly, XP_016870331.1:p.Ser912Gly, XP_016870335.1:p.Ser227Gly, XP_016870332.1:p.Ser912Gly, XP_047279477.1:p.Ser911Gly, NP_001351958.1:p.Ser911Gly, XP_047279475.1:p.Ser848Gly, XP_047279476.1:p.Ser846Gly, XP_016870333.1:p.Ser452Gly, XP_047279478.1:p.Ser302Gly

                8.

                rs1484347141 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  A>C [Show Flanks]
                  Chromosome:
                  9:17394630 (GRCh38)
                  9:17394628 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:17394629:A:C
                  Gene:
                  CNTLN (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000009.12:g.17394630A>C, NC_000009.11:g.17394628A>C, XM_006716793.5:c.1987A>C, XM_006716793.4:c.1987A>C, XM_006716793.3:c.1987A>C, XM_006716793.2:c.1987A>C, XM_006716793.1:c.1987A>C, NM_017738.4:c.2176A>C, NM_017738.3:c.2176A>C, NM_017738.2:c.2176A>C, XM_017014847.3:c.121A>C, XM_017014847.2:c.121A>C, XM_017014847.1:c.121A>C, XM_017014845.3:c.475A>C, XM_017014845.2:c.475A>C, XM_017014845.1:c.475A>C, XR_929282.3:n.2202A>C, XR_929282.2:n.2251A>C, XR_929282.1:n.2251A>C, XM_011517941.3:c.2176A>C, XM_011517941.2:c.2176A>C, XM_011517941.1:c.2176A>C, XM_024447583.2:c.2176A>C, XM_024447583.1:c.2176A>C, XM_017014839.2:c.2176A>C, XM_017014839.1:c.2176A>C, XM_017014841.2:c.1981A>C, XM_017014841.1:c.1981A>C, XM_017014842.2:c.2176A>C, XM_017014842.1:c.2176A>C, XM_017014846.2:c.121A>C, XM_017014846.1:c.121A>C, XM_017014843.2:c.2176A>C, XM_017014843.1:c.2176A>C, XM_047423521.1:c.2176A>C, NM_001365029.1:c.2176A>C, XM_047423519.1:c.1987A>C, XM_047423520.1:c.1981A>C, XR_007061321.1:n.2202A>C, XR_007061322.1:n.2202A>C, XM_017014844.1:c.796A>C, XM_047423522.1:c.349A>C, XP_006716856.1:p.Lys663Gln, NP_060208.2:p.Lys726Gln, XP_016870336.1:p.Lys41Gln, XP_016870334.1:p.Lys159Gln, XP_011516243.1:p.Lys726Gln, XP_024303351.1:p.Lys726Gln, XP_016870328.1:p.Lys726Gln, XP_016870330.1:p.Lys661Gln, XP_016870331.1:p.Lys726Gln, XP_016870335.1:p.Lys41Gln, XP_016870332.1:p.Lys726Gln, XP_047279477.1:p.Lys726Gln, NP_001351958.1:p.Lys726Gln, XP_047279475.1:p.Lys663Gln, XP_047279476.1:p.Lys661Gln, XP_016870333.1:p.Lys266Gln, XP_047279478.1:p.Lys117Gln

                  9.

                  rs1483824779 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    9:17466002 (GRCh38)
                    9:17466000 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:17466001:T:C
                    Gene:
                    CNTLN (Varview)
                    Functional Consequence:
                    coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000009.12:g.17466002T>C, NC_000009.11:g.17466000T>C, XM_006716793.5:c.3364T>C, XM_006716793.4:c.3364T>C, XM_006716793.3:c.3364T>C, XM_006716793.2:c.3364T>C, XM_006716793.1:c.3364T>C, NM_017738.4:c.3553T>C, NM_017738.3:c.3553T>C, NM_017738.2:c.3553T>C, XM_017014847.3:c.1498T>C, XM_017014847.2:c.1498T>C, XM_017014847.1:c.1498T>C, XM_017014845.3:c.1852T>C, XM_017014845.2:c.1852T>C, XM_017014845.1:c.1852T>C, XM_024447583.2:c.3553T>C, XM_024447583.1:c.3553T>C, XM_017014839.2:c.3553T>C, XM_017014839.1:c.3553T>C, XM_017014841.2:c.3358T>C, XM_017014841.1:c.3358T>C, XM_017014846.2:c.1498T>C, XM_017014846.1:c.1498T>C, XM_047423521.1:c.3550T>C, NM_001365029.1:c.3550T>C, XM_047423519.1:c.3361T>C, XM_047423520.1:c.3355T>C, XR_007061321.1:n.3579T>C, XR_007061322.1:n.3576T>C, XM_017014844.1:c.2173T>C, XM_047423522.1:c.1723T>C, XP_006716856.1:p.Cys1122Arg, NP_060208.2:p.Cys1185Arg, XP_016870336.1:p.Cys500Arg, XP_016870334.1:p.Cys618Arg, XP_024303351.1:p.Cys1185Arg, XP_016870328.1:p.Cys1185Arg, XP_016870330.1:p.Cys1120Arg, XP_016870335.1:p.Cys500Arg, XP_047279477.1:p.Cys1184Arg, NP_001351958.1:p.Cys1184Arg, XP_047279475.1:p.Cys1121Arg, XP_047279476.1:p.Cys1119Arg, XP_016870333.1:p.Cys725Arg, XP_047279478.1:p.Cys575Arg

                    10.

                    rs1483474983 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G,T [Show Flanks]
                      Chromosome:
                      9:17394803 (GRCh38)
                      9:17394801 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:17394802:A:G,NC_000009.12:17394802:A:T
                      Gene:
                      CNTLN (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      G=0.000008/2 (GnomAD_exomes)
                      G=0.000021/3 (GnomAD)
                      HGVS:
                      NC_000009.12:g.17394803A>G, NC_000009.12:g.17394803A>T, NC_000009.11:g.17394801A>G, NC_000009.11:g.17394801A>T, XM_006716793.5:c.2160A>G, XM_006716793.5:c.2160A>T, XM_006716793.4:c.2160A>G, XM_006716793.4:c.2160A>T, XM_006716793.3:c.2160A>G, XM_006716793.3:c.2160A>T, XM_006716793.2:c.2160A>G, XM_006716793.2:c.2160A>T, XM_006716793.1:c.2160A>G, XM_006716793.1:c.2160A>T, NM_017738.4:c.2349A>G, NM_017738.4:c.2349A>T, NM_017738.3:c.2349A>G, NM_017738.3:c.2349A>T, NM_017738.2:c.2349A>G, NM_017738.2:c.2349A>T, XM_017014847.3:c.294A>G, XM_017014847.3:c.294A>T, XM_017014847.2:c.294A>G, XM_017014847.2:c.294A>T, XM_017014847.1:c.294A>G, XM_017014847.1:c.294A>T, XM_017014845.3:c.648A>G, XM_017014845.3:c.648A>T, XM_017014845.2:c.648A>G, XM_017014845.2:c.648A>T, XM_017014845.1:c.648A>G, XM_017014845.1:c.648A>T, XR_929282.3:n.2375A>G, XR_929282.3:n.2375A>T, XR_929282.2:n.2424A>G, XR_929282.2:n.2424A>T, XR_929282.1:n.2424A>G, XR_929282.1:n.2424A>T, XM_011517941.3:c.2349A>G, XM_011517941.3:c.2349A>T, XM_011517941.2:c.2349A>G, XM_011517941.2:c.2349A>T, XM_011517941.1:c.2349A>G, XM_011517941.1:c.2349A>T, XM_024447583.2:c.2349A>G, XM_024447583.2:c.2349A>T, XM_024447583.1:c.2349A>G, XM_024447583.1:c.2349A>T, XM_017014839.2:c.2349A>G, XM_017014839.2:c.2349A>T, XM_017014839.1:c.2349A>G, XM_017014839.1:c.2349A>T, XM_017014841.2:c.2154A>G, XM_017014841.2:c.2154A>T, XM_017014841.1:c.2154A>G, XM_017014841.1:c.2154A>T, XM_017014842.2:c.2349A>G, XM_017014842.2:c.2349A>T, XM_017014842.1:c.2349A>G, XM_017014842.1:c.2349A>T, XM_017014846.2:c.294A>G, XM_017014846.2:c.294A>T, XM_017014846.1:c.294A>G, XM_017014846.1:c.294A>T, XM_017014843.2:c.2349A>G, XM_017014843.2:c.2349A>T, XM_017014843.1:c.2349A>G, XM_017014843.1:c.2349A>T, XM_047423521.1:c.2349A>G, XM_047423521.1:c.2349A>T, NM_001365029.1:c.2349A>G, NM_001365029.1:c.2349A>T, XM_047423519.1:c.2160A>G, XM_047423519.1:c.2160A>T, XM_047423520.1:c.2154A>G, XM_047423520.1:c.2154A>T, XR_007061321.1:n.2375A>G, XR_007061321.1:n.2375A>T, XR_007061322.1:n.2375A>G, XR_007061322.1:n.2375A>T, XM_017014844.1:c.969A>G, XM_017014844.1:c.969A>T, XM_047423522.1:c.522A>G, XM_047423522.1:c.522A>T

                      11.

                      rs1480970078 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        9:17415809 (GRCh38)
                        9:17415807 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:17415808:G:A
                        Gene:
                        CNTLN (Varview)
                        Functional Consequence:
                        coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.17415809G>A, NC_000009.11:g.17415807G>A, XM_006716793.5:c.2629G>A, XM_006716793.4:c.2629G>A, XM_006716793.3:c.2629G>A, XM_006716793.2:c.2629G>A, XM_006716793.1:c.2629G>A, NM_017738.4:c.2818G>A, NM_017738.3:c.2818G>A, NM_017738.2:c.2818G>A, XM_017014847.3:c.763G>A, XM_017014847.2:c.763G>A, XM_017014847.1:c.763G>A, XM_017014845.3:c.1117G>A, XM_017014845.2:c.1117G>A, XM_017014845.1:c.1117G>A, XR_929282.3:n.2844G>A, XR_929282.2:n.2893G>A, XR_929282.1:n.2893G>A, XM_011517941.3:c.2818G>A, XM_011517941.2:c.2818G>A, XM_011517941.1:c.2818G>A, XM_024447583.2:c.2818G>A, XM_024447583.1:c.2818G>A, XM_017014839.2:c.2818G>A, XM_017014839.1:c.2818G>A, XM_017014841.2:c.2623G>A, XM_017014841.1:c.2623G>A, XM_017014842.2:c.2818G>A, XM_017014842.1:c.2818G>A, XM_017014846.2:c.763G>A, XM_017014846.1:c.763G>A, XM_017014843.2:c.2818G>A, XM_017014843.1:c.2818G>A, XM_047423521.1:c.2815G>A, NM_001365029.1:c.2815G>A, XM_047423519.1:c.2626G>A, XM_047423520.1:c.2620G>A, XR_007061321.1:n.2844G>A, XR_007061322.1:n.2841G>A, XM_017014844.1:c.1438G>A, XM_047423522.1:c.988G>A, XP_006716856.1:p.Ala877Thr, NP_060208.2:p.Ala940Thr, XP_016870336.1:p.Ala255Thr, XP_016870334.1:p.Ala373Thr, XP_011516243.1:p.Ala940Thr, XP_024303351.1:p.Ala940Thr, XP_016870328.1:p.Ala940Thr, XP_016870330.1:p.Ala875Thr, XP_016870331.1:p.Ala940Thr, XP_016870335.1:p.Ala255Thr, XP_016870332.1:p.Ala940Thr, XP_047279477.1:p.Ala939Thr, NP_001351958.1:p.Ala939Thr, XP_047279475.1:p.Ala876Thr, XP_047279476.1:p.Ala874Thr, XP_016870333.1:p.Ala480Thr, XP_047279478.1:p.Ala330Thr

                        12.

                        rs1475763478 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          9:17416079 (GRCh38)
                          9:17416077 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:17416078:A:G
                          Gene:
                          CNTLN (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          G=0./0 (ALFA)
                          G=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000009.12:g.17416079A>G, NC_000009.11:g.17416077A>G, XM_006716793.5:c.2815A>G, XM_006716793.4:c.2815A>G, XM_006716793.3:c.2815A>G, XM_006716793.2:c.2815A>G, XM_006716793.1:c.2815A>G, NM_017738.4:c.3004A>G, NM_017738.3:c.3004A>G, NM_017738.2:c.3004A>G, XM_017014847.3:c.949A>G, XM_017014847.2:c.949A>G, XM_017014847.1:c.949A>G, XM_017014845.3:c.1303A>G, XM_017014845.2:c.1303A>G, XM_017014845.1:c.1303A>G, XR_929282.3:n.3030A>G, XR_929282.2:n.3079A>G, XR_929282.1:n.3079A>G, XM_011517941.3:c.3004A>G, XM_011517941.2:c.3004A>G, XM_011517941.1:c.3004A>G, XM_024447583.2:c.3004A>G, XM_024447583.1:c.3004A>G, XM_017014839.2:c.3004A>G, XM_017014839.1:c.3004A>G, XM_017014841.2:c.2809A>G, XM_017014841.1:c.2809A>G, XM_017014842.2:c.3004A>G, XM_017014842.1:c.3004A>G, XM_017014846.2:c.949A>G, XM_017014846.1:c.949A>G, XM_017014843.2:c.3004A>G, XM_017014843.1:c.3004A>G, XM_047423521.1:c.3001A>G, NM_001365029.1:c.3001A>G, XM_047423519.1:c.2812A>G, XM_047423520.1:c.2806A>G, XR_007061321.1:n.3030A>G, XR_007061322.1:n.3027A>G, XM_017014844.1:c.1624A>G, XM_047423522.1:c.1174A>G, XP_006716856.1:p.Lys939Glu, NP_060208.2:p.Lys1002Glu, XP_016870336.1:p.Lys317Glu, XP_016870334.1:p.Lys435Glu, XP_011516243.1:p.Lys1002Glu, XP_024303351.1:p.Lys1002Glu, XP_016870328.1:p.Lys1002Glu, XP_016870330.1:p.Lys937Glu, XP_016870331.1:p.Lys1002Glu, XP_016870335.1:p.Lys317Glu, XP_016870332.1:p.Lys1002Glu, XP_047279477.1:p.Lys1001Glu, NP_001351958.1:p.Lys1001Glu, XP_047279475.1:p.Lys938Glu, XP_047279476.1:p.Lys936Glu, XP_016870333.1:p.Lys542Glu, XP_047279478.1:p.Lys392Glu

                          13.

                          rs1474801541 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            9:17416178 (GRCh38)
                            9:17416176 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:17416177:C:T
                            Gene:
                            CNTLN (Varview)
                            Functional Consequence:
                            coding_sequence_variant,stop_gained,non_coding_transcript_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency
                            MAF:
                            T=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000009.12:g.17416178C>T, NC_000009.11:g.17416176C>T, XM_006716793.5:c.2914C>T, XM_006716793.4:c.2914C>T, XM_006716793.3:c.2914C>T, XM_006716793.2:c.2914C>T, XM_006716793.1:c.2914C>T, NM_017738.4:c.3103C>T, NM_017738.3:c.3103C>T, NM_017738.2:c.3103C>T, XM_017014847.3:c.1048C>T, XM_017014847.2:c.1048C>T, XM_017014847.1:c.1048C>T, XM_017014845.3:c.1402C>T, XM_017014845.2:c.1402C>T, XM_017014845.1:c.1402C>T, XR_929282.3:n.3129C>T, XR_929282.2:n.3178C>T, XR_929282.1:n.3178C>T, XM_011517941.3:c.3103C>T, XM_011517941.2:c.3103C>T, XM_011517941.1:c.3103C>T, XM_024447583.2:c.3103C>T, XM_024447583.1:c.3103C>T, XM_017014839.2:c.3103C>T, XM_017014839.1:c.3103C>T, XM_017014841.2:c.2908C>T, XM_017014841.1:c.2908C>T, XM_017014842.2:c.3103C>T, XM_017014842.1:c.3103C>T, XM_017014846.2:c.1048C>T, XM_017014846.1:c.1048C>T, XM_017014843.2:c.3103C>T, XM_017014843.1:c.3103C>T, XM_047423521.1:c.3100C>T, NM_001365029.1:c.3100C>T, XM_047423519.1:c.2911C>T, XM_047423520.1:c.2905C>T, XR_007061321.1:n.3129C>T, XR_007061322.1:n.3126C>T, XM_017014844.1:c.1723C>T, XM_047423522.1:c.1273C>T, XP_006716856.1:p.Gln972Ter, NP_060208.2:p.Gln1035Ter, XP_016870336.1:p.Gln350Ter, XP_016870334.1:p.Gln468Ter, XP_011516243.1:p.Gln1035Ter, XP_024303351.1:p.Gln1035Ter, XP_016870328.1:p.Gln1035Ter, XP_016870330.1:p.Gln970Ter, XP_016870331.1:p.Gln1035Ter, XP_016870335.1:p.Gln350Ter, XP_016870332.1:p.Gln1035Ter, XP_047279477.1:p.Gln1034Ter, NP_001351958.1:p.Gln1034Ter, XP_047279475.1:p.Gln971Ter, XP_047279476.1:p.Gln969Ter, XP_016870333.1:p.Gln575Ter, XP_047279478.1:p.Gln425Ter

                            14.

                            rs1474525913 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              9:17484394 (GRCh38)
                              9:17484392 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:17484393:A:G
                              Gene:
                              CNTLN (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000009.12:g.17484394A>G, NC_000009.11:g.17484392A>G, XM_006716793.5:c.3766A>G, XM_006716793.4:c.3766A>G, XM_006716793.3:c.3766A>G, XM_006716793.2:c.3766A>G, XM_006716793.1:c.3766A>G, NM_017738.4:c.3955A>G, NM_017738.3:c.3955A>G, NM_017738.2:c.3955A>G, XM_017014847.3:c.1900A>G, XM_017014847.2:c.1900A>G, XM_017014847.1:c.1900A>G, XM_017014845.3:c.2254A>G, XM_017014845.2:c.2254A>G, XM_017014845.1:c.2254A>G, XM_017014839.2:c.3955A>G, XM_017014839.1:c.3955A>G, XM_017014841.2:c.3760A>G, XM_017014841.1:c.3760A>G, XM_017014846.2:c.1900A>G, XM_017014846.1:c.1900A>G, NM_001365029.1:c.3952A>G, XM_047423519.1:c.3763A>G, XM_047423520.1:c.3757A>G, XR_007061321.1:n.3981A>G, XR_007061322.1:n.3978A>G, XM_017014844.1:c.2575A>G, XM_047423522.1:c.2125A>G, XP_006716856.1:p.Thr1256Ala, NP_060208.2:p.Thr1319Ala, XP_016870336.1:p.Thr634Ala, XP_016870334.1:p.Thr752Ala, XP_016870328.1:p.Thr1319Ala, XP_016870330.1:p.Thr1254Ala, XP_016870335.1:p.Thr634Ala, NP_001351958.1:p.Thr1318Ala, XP_047279475.1:p.Thr1255Ala, XP_047279476.1:p.Thr1253Ala, XP_016870333.1:p.Thr859Ala, XP_047279478.1:p.Thr709Ala

                              15.

                              rs1472771009 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                9:17462973 (GRCh38)
                                9:17462971 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:17462972:C:T
                                Gene:
                                CNTLN (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.17462973C>T, NC_000009.11:g.17462971C>T, XM_006716793.5:c.3175C>T, XM_006716793.4:c.3175C>T, XM_006716793.3:c.3175C>T, XM_006716793.2:c.3175C>T, XM_006716793.1:c.3175C>T, NM_017738.4:c.3364C>T, NM_017738.3:c.3364C>T, NM_017738.2:c.3364C>T, XM_017014847.3:c.1309C>T, XM_017014847.2:c.1309C>T, XM_017014847.1:c.1309C>T, XM_017014845.3:c.1663C>T, XM_017014845.2:c.1663C>T, XM_017014845.1:c.1663C>T, XM_024447583.2:c.3364C>T, XM_024447583.1:c.3364C>T, XM_017014839.2:c.3364C>T, XM_017014839.1:c.3364C>T, XM_017014841.2:c.3169C>T, XM_017014841.1:c.3169C>T, XM_017014846.2:c.1309C>T, XM_017014846.1:c.1309C>T, XM_047423521.1:c.3361C>T, NM_001365029.1:c.3361C>T, XM_047423519.1:c.3172C>T, XM_047423520.1:c.3166C>T, XR_007061321.1:n.3390C>T, XR_007061322.1:n.3387C>T, XM_017014844.1:c.1984C>T, XM_047423522.1:c.1534C>T, XP_006716856.1:p.Leu1059Phe, NP_060208.2:p.Leu1122Phe, XP_016870336.1:p.Leu437Phe, XP_016870334.1:p.Leu555Phe, XP_024303351.1:p.Leu1122Phe, XP_016870328.1:p.Leu1122Phe, XP_016870330.1:p.Leu1057Phe, XP_016870335.1:p.Leu437Phe, XP_047279477.1:p.Leu1121Phe, NP_001351958.1:p.Leu1121Phe, XP_047279475.1:p.Leu1058Phe, XP_047279476.1:p.Leu1056Phe, XP_016870333.1:p.Leu662Phe, XP_047279478.1:p.Leu512Phe

                                16.

                                rs1469844375 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  9:17502560 (GRCh38)
                                  9:17502558 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:17502559:G:C
                                  Gene:
                                  CNTLN (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000005/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000009.12:g.17502560G>C, NC_000009.11:g.17502558G>C, XM_006716793.5:c.3940G>C, XM_006716793.4:c.3940G>C, XM_006716793.3:c.3940G>C, XM_006716793.2:c.3940G>C, XM_006716793.1:c.3940G>C, NM_017738.4:c.4129G>C, NM_017738.3:c.4129G>C, NM_017738.2:c.4129G>C, XM_017014847.3:c.2074G>C, XM_017014847.2:c.2074G>C, XM_017014847.1:c.2074G>C, XM_017014845.3:c.2428G>C, XM_017014845.2:c.2428G>C, XM_017014845.1:c.2428G>C, XM_017014839.2:c.*26G>C, XM_017014839.1:c.*26G>C, XM_017014841.2:c.3934G>C, XM_017014841.1:c.3934G>C, XM_017014846.2:c.2074G>C, XM_017014846.1:c.2074G>C, NM_001365029.1:c.4126G>C, XM_047423519.1:c.3937G>C, XM_047423520.1:c.3931G>C, XM_017014844.1:c.2749G>C, XM_047423522.1:c.2299G>C, XP_006716856.1:p.Ala1314Pro, NP_060208.2:p.Ala1377Pro, XP_016870336.1:p.Ala692Pro, XP_016870334.1:p.Ala810Pro, XP_016870330.1:p.Ala1312Pro, XP_016870335.1:p.Ala692Pro, NP_001351958.1:p.Ala1376Pro, XP_047279475.1:p.Ala1313Pro, XP_047279476.1:p.Ala1311Pro, XP_016870333.1:p.Ala917Pro, XP_047279478.1:p.Ala767Pro

                                  17.

                                  rs1466879265 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    9:17394834 (GRCh38)
                                    9:17394832 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:17394833:C:G
                                    Gene:
                                    CNTLN (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,non_coding_transcript_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)
                                    G=0.000342/1 (KOREAN)
                                    HGVS:
                                    NC_000009.12:g.17394834C>G, NC_000009.11:g.17394832C>G, XM_006716793.5:c.2191C>G, XM_006716793.4:c.2191C>G, XM_006716793.3:c.2191C>G, XM_006716793.2:c.2191C>G, XM_006716793.1:c.2191C>G, NM_017738.4:c.2380C>G, NM_017738.3:c.2380C>G, NM_017738.2:c.2380C>G, XM_017014847.3:c.325C>G, XM_017014847.2:c.325C>G, XM_017014847.1:c.325C>G, XM_017014845.3:c.679C>G, XM_017014845.2:c.679C>G, XM_017014845.1:c.679C>G, XR_929282.3:n.2406C>G, XR_929282.2:n.2455C>G, XR_929282.1:n.2455C>G, XM_011517941.3:c.2380C>G, XM_011517941.2:c.2380C>G, XM_011517941.1:c.2380C>G, XM_024447583.2:c.2380C>G, XM_024447583.1:c.2380C>G, XM_017014839.2:c.2380C>G, XM_017014839.1:c.2380C>G, XM_017014841.2:c.2185C>G, XM_017014841.1:c.2185C>G, XM_017014842.2:c.2380C>G, XM_017014842.1:c.2380C>G, XM_017014846.2:c.325C>G, XM_017014846.1:c.325C>G, XM_017014843.2:c.2380C>G, XM_017014843.1:c.2380C>G, XM_047423521.1:c.2380C>G, NM_001365029.1:c.2380C>G, XM_047423519.1:c.2191C>G, XM_047423520.1:c.2185C>G, XR_007061321.1:n.2406C>G, XR_007061322.1:n.2406C>G, XM_017014844.1:c.1000C>G, XM_047423522.1:c.553C>G, XP_006716856.1:p.Pro731Ala, NP_060208.2:p.Pro794Ala, XP_016870336.1:p.Pro109Ala, XP_016870334.1:p.Pro227Ala, XP_011516243.1:p.Pro794Ala, XP_024303351.1:p.Pro794Ala, XP_016870328.1:p.Pro794Ala, XP_016870330.1:p.Pro729Ala, XP_016870331.1:p.Pro794Ala, XP_016870335.1:p.Pro109Ala, XP_016870332.1:p.Pro794Ala, XP_047279477.1:p.Pro794Ala, NP_001351958.1:p.Pro794Ala, XP_047279475.1:p.Pro731Ala, XP_047279476.1:p.Pro729Ala, XP_016870333.1:p.Pro334Ala, XP_047279478.1:p.Pro185Ala

                                    18.

                                    rs1465405036 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      9:17415851 (GRCh38)
                                      9:17415849 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:17415850:A:G
                                      Gene:
                                      CNTLN (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000011/3 (TOPMED)
                                      HGVS:
                                      NC_000009.12:g.17415851A>G, NC_000009.11:g.17415849A>G, XM_006716793.5:c.2671A>G, XM_006716793.4:c.2671A>G, XM_006716793.3:c.2671A>G, XM_006716793.2:c.2671A>G, XM_006716793.1:c.2671A>G, NM_017738.4:c.2860A>G, NM_017738.3:c.2860A>G, NM_017738.2:c.2860A>G, XM_017014847.3:c.805A>G, XM_017014847.2:c.805A>G, XM_017014847.1:c.805A>G, XM_017014845.3:c.1159A>G, XM_017014845.2:c.1159A>G, XM_017014845.1:c.1159A>G, XR_929282.3:n.2886A>G, XR_929282.2:n.2935A>G, XR_929282.1:n.2935A>G, XM_011517941.3:c.2860A>G, XM_011517941.2:c.2860A>G, XM_011517941.1:c.2860A>G, XM_024447583.2:c.2860A>G, XM_024447583.1:c.2860A>G, XM_017014839.2:c.2860A>G, XM_017014839.1:c.2860A>G, XM_017014841.2:c.2665A>G, XM_017014841.1:c.2665A>G, XM_017014842.2:c.2860A>G, XM_017014842.1:c.2860A>G, XM_017014846.2:c.805A>G, XM_017014846.1:c.805A>G, XM_017014843.2:c.2860A>G, XM_017014843.1:c.2860A>G, XM_047423521.1:c.2857A>G, NM_001365029.1:c.2857A>G, XM_047423519.1:c.2668A>G, XM_047423520.1:c.2662A>G, XR_007061321.1:n.2886A>G, XR_007061322.1:n.2883A>G, XM_017014844.1:c.1480A>G, XM_047423522.1:c.1030A>G, XP_006716856.1:p.Lys891Glu, NP_060208.2:p.Lys954Glu, XP_016870336.1:p.Lys269Glu, XP_016870334.1:p.Lys387Glu, XP_011516243.1:p.Lys954Glu, XP_024303351.1:p.Lys954Glu, XP_016870328.1:p.Lys954Glu, XP_016870330.1:p.Lys889Glu, XP_016870331.1:p.Lys954Glu, XP_016870335.1:p.Lys269Glu, XP_016870332.1:p.Lys954Glu, XP_047279477.1:p.Lys953Glu, NP_001351958.1:p.Lys953Glu, XP_047279475.1:p.Lys890Glu, XP_047279476.1:p.Lys888Glu, XP_016870333.1:p.Lys494Glu, XP_047279478.1:p.Lys344Glu

                                      19.

                                      rs1464195006 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,T [Show Flanks]
                                        Chromosome:
                                        9:17484319 (GRCh38)
                                        9:17484317 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:17484318:G:A,NC_000009.12:17484318:G:T
                                        Gene:
                                        CNTLN (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000009.12:g.17484319G>A, NC_000009.12:g.17484319G>T, NC_000009.11:g.17484317G>A, NC_000009.11:g.17484317G>T, XM_006716793.5:c.3691G>A, XM_006716793.5:c.3691G>T, XM_006716793.4:c.3691G>A, XM_006716793.4:c.3691G>T, XM_006716793.3:c.3691G>A, XM_006716793.3:c.3691G>T, XM_006716793.2:c.3691G>A, XM_006716793.2:c.3691G>T, XM_006716793.1:c.3691G>A, XM_006716793.1:c.3691G>T, NM_017738.4:c.3880G>A, NM_017738.4:c.3880G>T, NM_017738.3:c.3880G>A, NM_017738.3:c.3880G>T, NM_017738.2:c.3880G>A, NM_017738.2:c.3880G>T, XM_017014847.3:c.1825G>A, XM_017014847.3:c.1825G>T, XM_017014847.2:c.1825G>A, XM_017014847.2:c.1825G>T, XM_017014847.1:c.1825G>A, XM_017014847.1:c.1825G>T, XM_017014845.3:c.2179G>A, XM_017014845.3:c.2179G>T, XM_017014845.2:c.2179G>A, XM_017014845.2:c.2179G>T, XM_017014845.1:c.2179G>A, XM_017014845.1:c.2179G>T, XM_017014839.2:c.3880G>A, XM_017014839.2:c.3880G>T, XM_017014839.1:c.3880G>A, XM_017014839.1:c.3880G>T, XM_017014841.2:c.3685G>A, XM_017014841.2:c.3685G>T, XM_017014841.1:c.3685G>A, XM_017014841.1:c.3685G>T, XM_017014846.2:c.1825G>A, XM_017014846.2:c.1825G>T, XM_017014846.1:c.1825G>A, XM_017014846.1:c.1825G>T, NM_001365029.1:c.3877G>A, NM_001365029.1:c.3877G>T, XM_047423519.1:c.3688G>A, XM_047423519.1:c.3688G>T, XM_047423520.1:c.3682G>A, XM_047423520.1:c.3682G>T, XR_007061321.1:n.3906G>A, XR_007061321.1:n.3906G>T, XR_007061322.1:n.3903G>A, XR_007061322.1:n.3903G>T, XM_017014844.1:c.2500G>A, XM_017014844.1:c.2500G>T, XM_047423522.1:c.2050G>A, XM_047423522.1:c.2050G>T, XP_006716856.1:p.Asp1231Asn, XP_006716856.1:p.Asp1231Tyr, NP_060208.2:p.Asp1294Asn, NP_060208.2:p.Asp1294Tyr, XP_016870336.1:p.Asp609Asn, XP_016870336.1:p.Asp609Tyr, XP_016870334.1:p.Asp727Asn, XP_016870334.1:p.Asp727Tyr, XP_016870328.1:p.Asp1294Asn, XP_016870328.1:p.Asp1294Tyr, XP_016870330.1:p.Asp1229Asn, XP_016870330.1:p.Asp1229Tyr, XP_016870335.1:p.Asp609Asn, XP_016870335.1:p.Asp609Tyr, NP_001351958.1:p.Asp1293Asn, NP_001351958.1:p.Asp1293Tyr, XP_047279475.1:p.Asp1230Asn, XP_047279475.1:p.Asp1230Tyr, XP_047279476.1:p.Asp1228Asn, XP_047279476.1:p.Asp1228Tyr, XP_016870333.1:p.Asp834Asn, XP_016870333.1:p.Asp834Tyr, XP_047279478.1:p.Asp684Asn, XP_047279478.1:p.Asp684Tyr

                                        20.

                                        rs1463615036 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,G,T [Show Flanks]
                                          Chromosome:
                                          9:17462958 (GRCh38)
                                          9:17462956 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:17462957:A:C,NC_000009.12:17462957:A:G,NC_000009.12:17462957:A:T
                                          Gene:
                                          CNTLN (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0.000028/1 (ALFA)
                                          G=0.000004/1 (GnomAD_exomes)
                                          C=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000009.12:g.17462958A>C, NC_000009.12:g.17462958A>G, NC_000009.12:g.17462958A>T, NC_000009.11:g.17462956A>C, NC_000009.11:g.17462956A>G, NC_000009.11:g.17462956A>T, XM_006716793.5:c.3160A>C, XM_006716793.5:c.3160A>G, XM_006716793.5:c.3160A>T, XM_006716793.4:c.3160A>C, XM_006716793.4:c.3160A>G, XM_006716793.4:c.3160A>T, XM_006716793.3:c.3160A>C, XM_006716793.3:c.3160A>G, XM_006716793.3:c.3160A>T, XM_006716793.2:c.3160A>C, XM_006716793.2:c.3160A>G, XM_006716793.2:c.3160A>T, XM_006716793.1:c.3160A>C, XM_006716793.1:c.3160A>G, XM_006716793.1:c.3160A>T, NM_017738.4:c.3349A>C, NM_017738.4:c.3349A>G, NM_017738.4:c.3349A>T, NM_017738.3:c.3349A>C, NM_017738.3:c.3349A>G, NM_017738.3:c.3349A>T, NM_017738.2:c.3349A>C, NM_017738.2:c.3349A>G, NM_017738.2:c.3349A>T, XM_017014847.3:c.1294A>C, XM_017014847.3:c.1294A>G, XM_017014847.3:c.1294A>T, XM_017014847.2:c.1294A>C, XM_017014847.2:c.1294A>G, XM_017014847.2:c.1294A>T, XM_017014847.1:c.1294A>C, XM_017014847.1:c.1294A>G, XM_017014847.1:c.1294A>T, XM_017014845.3:c.1648A>C, XM_017014845.3:c.1648A>G, XM_017014845.3:c.1648A>T, XM_017014845.2:c.1648A>C, XM_017014845.2:c.1648A>G, XM_017014845.2:c.1648A>T, XM_017014845.1:c.1648A>C, XM_017014845.1:c.1648A>G, XM_017014845.1:c.1648A>T, XM_024447583.2:c.3349A>C, XM_024447583.2:c.3349A>G, XM_024447583.2:c.3349A>T, XM_024447583.1:c.3349A>C, XM_024447583.1:c.3349A>G, XM_024447583.1:c.3349A>T, XM_017014839.2:c.3349A>C, XM_017014839.2:c.3349A>G, XM_017014839.2:c.3349A>T, XM_017014839.1:c.3349A>C, XM_017014839.1:c.3349A>G, XM_017014839.1:c.3349A>T, XM_017014841.2:c.3154A>C, XM_017014841.2:c.3154A>G, XM_017014841.2:c.3154A>T, XM_017014841.1:c.3154A>C, XM_017014841.1:c.3154A>G, XM_017014841.1:c.3154A>T, XM_017014846.2:c.1294A>C, XM_017014846.2:c.1294A>G, XM_017014846.2:c.1294A>T, XM_017014846.1:c.1294A>C, XM_017014846.1:c.1294A>G, XM_017014846.1:c.1294A>T, XM_047423521.1:c.3346A>C, XM_047423521.1:c.3346A>G, XM_047423521.1:c.3346A>T, NM_001365029.1:c.3346A>C, NM_001365029.1:c.3346A>G, NM_001365029.1:c.3346A>T, XM_047423519.1:c.3157A>C, XM_047423519.1:c.3157A>G, XM_047423519.1:c.3157A>T, XM_047423520.1:c.3151A>C, XM_047423520.1:c.3151A>G, XM_047423520.1:c.3151A>T, XR_007061321.1:n.3375A>C, XR_007061321.1:n.3375A>G, XR_007061321.1:n.3375A>T, XR_007061322.1:n.3372A>C, XR_007061322.1:n.3372A>G, XR_007061322.1:n.3372A>T, XM_017014844.1:c.1969A>C, XM_017014844.1:c.1969A>G, XM_017014844.1:c.1969A>T, XM_047423522.1:c.1519A>C, XM_047423522.1:c.1519A>G, XM_047423522.1:c.1519A>T, XP_006716856.1:p.Thr1054Pro, XP_006716856.1:p.Thr1054Ala, XP_006716856.1:p.Thr1054Ser, NP_060208.2:p.Thr1117Pro, NP_060208.2:p.Thr1117Ala, NP_060208.2:p.Thr1117Ser, XP_016870336.1:p.Thr432Pro, XP_016870336.1:p.Thr432Ala, XP_016870336.1:p.Thr432Ser, XP_016870334.1:p.Thr550Pro, XP_016870334.1:p.Thr550Ala, XP_016870334.1:p.Thr550Ser, XP_024303351.1:p.Thr1117Pro, XP_024303351.1:p.Thr1117Ala, XP_024303351.1:p.Thr1117Ser, XP_016870328.1:p.Thr1117Pro, XP_016870328.1:p.Thr1117Ala, XP_016870328.1:p.Thr1117Ser, XP_016870330.1:p.Thr1052Pro, XP_016870330.1:p.Thr1052Ala, XP_016870330.1:p.Thr1052Ser, XP_016870335.1:p.Thr432Pro, XP_016870335.1:p.Thr432Ala, XP_016870335.1:p.Thr432Ser, XP_047279477.1:p.Thr1116Pro, XP_047279477.1:p.Thr1116Ala, XP_047279477.1:p.Thr1116Ser, NP_001351958.1:p.Thr1116Pro, NP_001351958.1:p.Thr1116Ala, NP_001351958.1:p.Thr1116Ser, XP_047279475.1:p.Thr1053Pro, XP_047279475.1:p.Thr1053Ala, XP_047279475.1:p.Thr1053Ser, XP_047279476.1:p.Thr1051Pro, XP_047279476.1:p.Thr1051Ala, XP_047279476.1:p.Thr1051Ser, XP_016870333.1:p.Thr657Pro, XP_016870333.1:p.Thr657Ala, XP_016870333.1:p.Thr657Ser, XP_047279478.1:p.Thr507Pro, XP_047279478.1:p.Thr507Ala, XP_047279478.1:p.Thr507Ser

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