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Items: 1 to 20 of 1208

1.

rs1489974859 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    12:122360964 (GRCh38)
    12:122845511 (GRCh37)
    Canonical SPDI:
    NC_000012.12:122360963:C:T
    Gene:
    CLIP1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000007/1 (GnomAD)
    T=0.000011/3 (TOPMED)
    HGVS:
    NC_000012.12:g.122360964C>T, NC_000012.11:g.122845511C>T, NG_030352.1:g.66606G>A, NM_002956.3:c.1000G>A, NM_002956.2:c.1000G>A, NM_198240.3:c.1000G>A, NM_198240.2:c.1000G>A, NM_198240.1:c.1000G>A, NM_001247997.2:c.1000G>A, NM_001247997.1:c.1000G>A, NM_001389291.1:c.1000G>A, XM_006719552.5:c.1000G>A, XM_006719552.4:c.1000G>A, XM_006719552.3:c.1000G>A, XM_006719552.2:c.1000G>A, XM_006719552.1:c.1000G>A, XM_005253593.4:c.1000G>A, XM_005253593.3:c.1000G>A, XM_005253593.2:c.1000G>A, XM_005253593.1:c.1000G>A, XM_017019788.3:c.1000G>A, XM_017019788.2:c.1000G>A, XM_017019788.1:c.1000G>A, XM_017019791.3:c.1000G>A, XM_017019791.2:c.1000G>A, XM_017019791.1:c.1000G>A, XM_017019792.3:c.1000G>A, XM_017019792.2:c.1000G>A, XM_017019792.1:c.1000G>A, XM_017019789.2:c.1000G>A, XM_017019789.1:c.1000G>A, XM_047429309.1:c.1000G>A, XM_047429310.1:c.1000G>A, XM_047429316.1:c.1000G>A, XM_047429307.1:c.1000G>A, XM_047429311.1:c.1000G>A, XM_047429315.1:c.1000G>A, XM_047429317.1:c.1000G>A, XM_047429312.1:c.1000G>A, XM_047429313.1:c.1000G>A, XM_047429318.1:c.1000G>A, XM_047429314.1:c.1000G>A, XM_047429319.1:c.1000G>A, XM_047429320.1:c.1000G>A, XM_047429321.1:c.1000G>A, NP_002947.1:p.Gly334Arg, NP_937883.1:p.Gly334Arg, NP_001234926.1:p.Gly334Arg, NP_001376220.1:p.Gly334Arg, XP_006719615.1:p.Gly334Arg, XP_005253650.1:p.Gly334Arg, XP_016875277.1:p.Gly334Arg, XP_016875280.1:p.Gly334Arg, XP_016875281.1:p.Gly334Arg, XP_016875278.1:p.Gly334Arg, XP_047285265.1:p.Gly334Arg, XP_047285266.1:p.Gly334Arg, XP_047285272.1:p.Gly334Arg, XP_047285263.1:p.Gly334Arg, XP_047285267.1:p.Gly334Arg, XP_047285271.1:p.Gly334Arg, XP_047285273.1:p.Gly334Arg, XP_047285268.1:p.Gly334Arg, XP_047285269.1:p.Gly334Arg, XP_047285274.1:p.Gly334Arg, XP_047285270.1:p.Gly334Arg, XP_047285275.1:p.Gly334Arg, XP_047285276.1:p.Gly334Arg, XP_047285277.1:p.Gly334Arg

    2.

    rs1489167579 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      12:122316801 (GRCh38)
      12:122801348 (GRCh37)
      Canonical SPDI:
      NC_000012.12:122316800:T:C
      Gene:
      CLIP1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency
      MAF:
      C=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000012.12:g.122316801T>C, NC_000012.11:g.122801348T>C, NG_030352.1:g.110769A>G, NM_002956.3:c.3388A>G, NM_002956.2:c.3388A>G, NM_198240.3:c.3283A>G, NM_198240.2:c.3283A>G, NM_198240.1:c.3283A>G, NM_001247997.2:c.3421A>G, NM_001247997.1:c.3421A>G, NM_001389291.1:c.5551A>G, XM_006719552.5:c.3388A>G, XM_006719552.4:c.3388A>G, XM_006719552.3:c.3388A>G, XM_006719552.2:c.3388A>G, XM_006719552.1:c.3388A>G, XM_005253593.4:c.3421A>G, XM_005253593.3:c.3421A>G, XM_005253593.2:c.3421A>G, XM_005253593.1:c.3421A>G, XM_017019788.3:c.3283A>G, XM_017019788.2:c.3283A>G, XM_017019788.1:c.3283A>G, XM_017019791.3:c.3271A>G, XM_017019791.2:c.3271A>G, XM_017019791.1:c.3271A>G, XM_017019792.3:c.3166A>G, XM_017019792.2:c.3166A>G, XM_017019792.1:c.3166A>G, XM_017019789.2:c.3283A>G, XM_017019789.1:c.3283A>G, XM_047429309.1:c.3388A>G, XM_047429310.1:c.3388A>G, XM_047429316.1:c.3283A>G, XM_047429307.1:c.3421A>G, XM_047429311.1:c.3316A>G, XM_047429315.1:c.3283A>G, XM_047429317.1:c.3283A>G, XM_047429312.1:c.3316A>G, XM_047429313.1:c.3316A>G, XM_047429318.1:c.3223A>G, XM_047429314.1:c.3283A>G, XM_047429319.1:c.3166A>G, XM_047429320.1:c.3085A>G, XM_047429321.1:c.2968A>G, NP_002947.1:p.Lys1130Glu, NP_937883.1:p.Lys1095Glu, NP_001234926.1:p.Lys1141Glu, NP_001376220.1:p.Lys1851Glu, XP_006719615.1:p.Lys1130Glu, XP_005253650.1:p.Lys1141Glu, XP_016875277.1:p.Lys1095Glu, XP_016875280.1:p.Lys1091Glu, XP_016875281.1:p.Lys1056Glu, XP_016875278.1:p.Lys1095Glu, XP_047285265.1:p.Lys1130Glu, XP_047285266.1:p.Lys1130Glu, XP_047285272.1:p.Lys1095Glu, XP_047285263.1:p.Lys1141Glu, XP_047285267.1:p.Lys1106Glu, XP_047285271.1:p.Lys1095Glu, XP_047285273.1:p.Lys1095Glu, XP_047285268.1:p.Lys1106Glu, XP_047285269.1:p.Lys1106Glu, XP_047285274.1:p.Lys1075Glu, XP_047285270.1:p.Lys1095Glu, XP_047285275.1:p.Lys1056Glu, XP_047285276.1:p.Lys1029Glu, XP_047285277.1:p.Lys990Glu

      3.

      rs1488936098 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>G [Show Flanks]
        Chromosome:
        12:122340931 (GRCh38)
        12:122825478 (GRCh37)
        Canonical SPDI:
        NC_000012.12:122340930:A:G
        Gene:
        CLIP1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        G=0./0 (ALFA)
        G=0.000004/1 (TOPMED)
        G=0.000007/1 (GnomAD)
        HGVS:
        NC_000012.12:g.122340931A>G, NC_000012.11:g.122825478A>G, NG_030352.1:g.86639T>C, NM_002956.3:c.2240T>C, NM_002956.2:c.2240T>C, NM_198240.3:c.2135T>C, NM_198240.2:c.2135T>C, NM_198240.1:c.2135T>C, NM_001247997.2:c.2273T>C, NM_001247997.1:c.2273T>C, NM_001389291.1:c.2135T>C, XM_006719552.5:c.2240T>C, XM_006719552.4:c.2240T>C, XM_006719552.3:c.2240T>C, XM_006719552.2:c.2240T>C, XM_006719552.1:c.2240T>C, XM_005253593.4:c.2273T>C, XM_005253593.3:c.2273T>C, XM_005253593.2:c.2273T>C, XM_005253593.1:c.2273T>C, XM_017019788.3:c.2135T>C, XM_017019788.2:c.2135T>C, XM_017019788.1:c.2135T>C, XM_017019791.3:c.2240T>C, XM_017019791.2:c.2240T>C, XM_017019791.1:c.2240T>C, XM_017019792.3:c.2135T>C, XM_017019792.2:c.2135T>C, XM_017019792.1:c.2135T>C, XM_017019789.2:c.2135T>C, XM_017019789.1:c.2135T>C, XM_047429309.1:c.2240T>C, XM_047429310.1:c.2240T>C, XM_047429316.1:c.2135T>C, XM_047429307.1:c.2273T>C, XM_047429311.1:c.2168T>C, XM_047429315.1:c.2135T>C, XM_047429317.1:c.2135T>C, XM_047429312.1:c.2168T>C, XM_047429313.1:c.2168T>C, XM_047429318.1:c.2075T>C, XM_047429314.1:c.2135T>C, XM_047429319.1:c.2135T>C, XM_047429320.1:c.1937T>C, XM_047429321.1:c.1937T>C, NP_002947.1:p.Val747Ala, NP_937883.1:p.Val712Ala, NP_001234926.1:p.Val758Ala, NP_001376220.1:p.Val712Ala, XP_006719615.1:p.Val747Ala, XP_005253650.1:p.Val758Ala, XP_016875277.1:p.Val712Ala, XP_016875280.1:p.Val747Ala, XP_016875281.1:p.Val712Ala, XP_016875278.1:p.Val712Ala, XP_047285265.1:p.Val747Ala, XP_047285266.1:p.Val747Ala, XP_047285272.1:p.Val712Ala, XP_047285263.1:p.Val758Ala, XP_047285267.1:p.Val723Ala, XP_047285271.1:p.Val712Ala, XP_047285273.1:p.Val712Ala, XP_047285268.1:p.Val723Ala, XP_047285269.1:p.Val723Ala, XP_047285274.1:p.Val692Ala, XP_047285270.1:p.Val712Ala, XP_047285275.1:p.Val712Ala, XP_047285276.1:p.Val646Ala, XP_047285277.1:p.Val646Ala

        4.

        rs1488156154 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          12:122363996 (GRCh38)
          12:122848543 (GRCh37)
          Canonical SPDI:
          NC_000012.12:122363995:C:T
          Gene:
          CLIP1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.122363996C>T, NC_000012.11:g.122848543C>T, NG_030352.1:g.63574G>A, NM_002956.3:c.769G>A, NM_002956.2:c.769G>A, NM_198240.3:c.769G>A, NM_198240.2:c.769G>A, NM_198240.1:c.769G>A, NM_001247997.2:c.769G>A, NM_001247997.1:c.769G>A, NM_001389291.1:c.769G>A, XM_006719552.5:c.769G>A, XM_006719552.4:c.769G>A, XM_006719552.3:c.769G>A, XM_006719552.2:c.769G>A, XM_006719552.1:c.769G>A, XM_005253593.4:c.769G>A, XM_005253593.3:c.769G>A, XM_005253593.2:c.769G>A, XM_005253593.1:c.769G>A, XM_017019788.3:c.769G>A, XM_017019788.2:c.769G>A, XM_017019788.1:c.769G>A, XM_017019791.3:c.769G>A, XM_017019791.2:c.769G>A, XM_017019791.1:c.769G>A, XM_017019792.3:c.769G>A, XM_017019792.2:c.769G>A, XM_017019792.1:c.769G>A, XM_017019789.2:c.769G>A, XM_017019789.1:c.769G>A, XM_047429309.1:c.769G>A, XM_047429310.1:c.769G>A, XM_047429316.1:c.769G>A, XM_047429307.1:c.769G>A, XM_047429311.1:c.769G>A, XM_047429315.1:c.769G>A, XM_047429317.1:c.769G>A, XM_047429312.1:c.769G>A, XM_047429313.1:c.769G>A, XM_047429318.1:c.769G>A, XM_047429314.1:c.769G>A, XM_047429319.1:c.769G>A, XM_047429320.1:c.769G>A, XM_047429321.1:c.769G>A, NP_002947.1:p.Val257Ile, NP_937883.1:p.Val257Ile, NP_001234926.1:p.Val257Ile, NP_001376220.1:p.Val257Ile, XP_006719615.1:p.Val257Ile, XP_005253650.1:p.Val257Ile, XP_016875277.1:p.Val257Ile, XP_016875280.1:p.Val257Ile, XP_016875281.1:p.Val257Ile, XP_016875278.1:p.Val257Ile, XP_047285265.1:p.Val257Ile, XP_047285266.1:p.Val257Ile, XP_047285272.1:p.Val257Ile, XP_047285263.1:p.Val257Ile, XP_047285267.1:p.Val257Ile, XP_047285271.1:p.Val257Ile, XP_047285273.1:p.Val257Ile, XP_047285268.1:p.Val257Ile, XP_047285269.1:p.Val257Ile, XP_047285274.1:p.Val257Ile, XP_047285270.1:p.Val257Ile, XP_047285275.1:p.Val257Ile, XP_047285276.1:p.Val257Ile, XP_047285277.1:p.Val257Ile

          5.

          rs1487676067 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>C [Show Flanks]
            Chromosome:
            12:122334669 (GRCh38)
            12:122819216 (GRCh37)
            Canonical SPDI:
            NC_000012.12:122334668:A:C
            Gene:
            CLIP1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000005/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.122334669A>C, NC_000012.11:g.122819216A>C, NG_030352.1:g.92901T>G, NM_002956.3:c.2572T>G, NM_002956.2:c.2572T>G, NM_198240.3:c.2467T>G, NM_198240.2:c.2467T>G, NM_198240.1:c.2467T>G, NM_001247997.2:c.2605T>G, NM_001247997.1:c.2605T>G, NM_001389291.1:c.2467T>G, XM_006719552.5:c.2572T>G, XM_006719552.4:c.2572T>G, XM_006719552.3:c.2572T>G, XM_006719552.2:c.2572T>G, XM_006719552.1:c.2572T>G, XM_005253593.4:c.2605T>G, XM_005253593.3:c.2605T>G, XM_005253593.2:c.2605T>G, XM_005253593.1:c.2605T>G, XM_017019788.3:c.2467T>G, XM_017019788.2:c.2467T>G, XM_017019788.1:c.2467T>G, XM_017019791.3:c.2455T>G, XM_017019791.2:c.2455T>G, XM_017019791.1:c.2455T>G, XM_017019792.3:c.2350T>G, XM_017019792.2:c.2350T>G, XM_017019792.1:c.2350T>G, XM_017019789.2:c.2467T>G, XM_017019789.1:c.2467T>G, XM_047429309.1:c.2572T>G, XM_047429310.1:c.2572T>G, XM_047429316.1:c.2467T>G, XM_047429307.1:c.2605T>G, XM_047429311.1:c.2500T>G, XM_047429315.1:c.2467T>G, XM_047429317.1:c.2467T>G, XM_047429312.1:c.2500T>G, XM_047429313.1:c.2500T>G, XM_047429318.1:c.2407T>G, XM_047429314.1:c.2467T>G, XM_047429319.1:c.2350T>G, XM_047429320.1:c.2269T>G, XM_047429321.1:c.2152T>G, NP_002947.1:p.Ser858Ala, NP_937883.1:p.Ser823Ala, NP_001234926.1:p.Ser869Ala, NP_001376220.1:p.Ser823Ala, XP_006719615.1:p.Ser858Ala, XP_005253650.1:p.Ser869Ala, XP_016875277.1:p.Ser823Ala, XP_016875280.1:p.Ser819Ala, XP_016875281.1:p.Ser784Ala, XP_016875278.1:p.Ser823Ala, XP_047285265.1:p.Ser858Ala, XP_047285266.1:p.Ser858Ala, XP_047285272.1:p.Ser823Ala, XP_047285263.1:p.Ser869Ala, XP_047285267.1:p.Ser834Ala, XP_047285271.1:p.Ser823Ala, XP_047285273.1:p.Ser823Ala, XP_047285268.1:p.Ser834Ala, XP_047285269.1:p.Ser834Ala, XP_047285274.1:p.Ser803Ala, XP_047285270.1:p.Ser823Ala, XP_047285275.1:p.Ser784Ala, XP_047285276.1:p.Ser757Ala, XP_047285277.1:p.Ser718Ala

            6.

            rs1486873070 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>A [Show Flanks]
              Chromosome:
              12:122328287 (GRCh38)
              12:122812834 (GRCh37)
              Canonical SPDI:
              NC_000012.12:122328286:C:A
              Gene:
              CLIP1 (Varview)
              Functional Consequence:
              coding_sequence_variant,stop_gained
              Validated:
              by frequency,by alfa
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000012.12:g.122328287C>A, NC_000012.11:g.122812834C>A, NG_030352.1:g.99283G>T, NM_002956.3:c.2974G>T, NM_002956.2:c.2974G>T, NM_198240.3:c.2869G>T, NM_198240.2:c.2869G>T, NM_198240.1:c.2869G>T, NM_001247997.2:c.3007G>T, NM_001247997.1:c.3007G>T, NM_001389291.1:c.2869G>T, XM_006719552.5:c.2974G>T, XM_006719552.4:c.2974G>T, XM_006719552.3:c.2974G>T, XM_006719552.2:c.2974G>T, XM_006719552.1:c.2974G>T, XM_005253593.4:c.3007G>T, XM_005253593.3:c.3007G>T, XM_005253593.2:c.3007G>T, XM_005253593.1:c.3007G>T, XM_017019788.3:c.2869G>T, XM_017019788.2:c.2869G>T, XM_017019788.1:c.2869G>T, XM_017019791.3:c.2857G>T, XM_017019791.2:c.2857G>T, XM_017019791.1:c.2857G>T, XM_017019792.3:c.2752G>T, XM_017019792.2:c.2752G>T, XM_017019792.1:c.2752G>T, XM_017019789.2:c.2869G>T, XM_017019789.1:c.2869G>T, XM_047429309.1:c.2974G>T, XM_047429310.1:c.2974G>T, XM_047429316.1:c.2869G>T, XM_047429307.1:c.3007G>T, XM_047429311.1:c.2902G>T, XM_047429315.1:c.2869G>T, XM_047429317.1:c.2869G>T, XM_047429312.1:c.2902G>T, XM_047429313.1:c.2902G>T, XM_047429318.1:c.2809G>T, XM_047429314.1:c.2869G>T, XM_047429319.1:c.2752G>T, XM_047429320.1:c.2671G>T, XM_047429321.1:c.2554G>T, NP_002947.1:p.Glu992Ter, NP_937883.1:p.Glu957Ter, NP_001234926.1:p.Glu1003Ter, NP_001376220.1:p.Glu957Ter, XP_006719615.1:p.Glu992Ter, XP_005253650.1:p.Glu1003Ter, XP_016875277.1:p.Glu957Ter, XP_016875280.1:p.Glu953Ter, XP_016875281.1:p.Glu918Ter, XP_016875278.1:p.Glu957Ter, XP_047285265.1:p.Glu992Ter, XP_047285266.1:p.Glu992Ter, XP_047285272.1:p.Glu957Ter, XP_047285263.1:p.Glu1003Ter, XP_047285267.1:p.Glu968Ter, XP_047285271.1:p.Glu957Ter, XP_047285273.1:p.Glu957Ter, XP_047285268.1:p.Glu968Ter, XP_047285269.1:p.Glu968Ter, XP_047285274.1:p.Glu937Ter, XP_047285270.1:p.Glu957Ter, XP_047285275.1:p.Glu918Ter, XP_047285276.1:p.Glu891Ter, XP_047285277.1:p.Glu852Ter

              7.

              rs1485991660 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                12:122341077 (GRCh38)
                12:122825624 (GRCh37)
                Canonical SPDI:
                NC_000012.12:122341076:A:G
                Gene:
                CLIP1 (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency
                MAF:
                G=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000012.12:g.122341077A>G, NC_000012.11:g.122825624A>G, NG_030352.1:g.86493T>C, NM_002956.3:c.2094T>C, NM_002956.2:c.2094T>C, NM_198240.3:c.1989T>C, NM_198240.2:c.1989T>C, NM_198240.1:c.1989T>C, NM_001247997.2:c.2127T>C, NM_001247997.1:c.2127T>C, NM_001389291.1:c.1989T>C, XM_006719552.5:c.2094T>C, XM_006719552.4:c.2094T>C, XM_006719552.3:c.2094T>C, XM_006719552.2:c.2094T>C, XM_006719552.1:c.2094T>C, XM_005253593.4:c.2127T>C, XM_005253593.3:c.2127T>C, XM_005253593.2:c.2127T>C, XM_005253593.1:c.2127T>C, XM_017019788.3:c.1989T>C, XM_017019788.2:c.1989T>C, XM_017019788.1:c.1989T>C, XM_017019791.3:c.2094T>C, XM_017019791.2:c.2094T>C, XM_017019791.1:c.2094T>C, XM_017019792.3:c.1989T>C, XM_017019792.2:c.1989T>C, XM_017019792.1:c.1989T>C, XM_017019789.2:c.1989T>C, XM_017019789.1:c.1989T>C, XM_047429309.1:c.2094T>C, XM_047429310.1:c.2094T>C, XM_047429316.1:c.1989T>C, XM_047429307.1:c.2127T>C, XM_047429311.1:c.2022T>C, XM_047429315.1:c.1989T>C, XM_047429317.1:c.1989T>C, XM_047429312.1:c.2022T>C, XM_047429313.1:c.2022T>C, XM_047429318.1:c.1929T>C, XM_047429314.1:c.1989T>C, XM_047429319.1:c.1989T>C, XM_047429320.1:c.1791T>C, XM_047429321.1:c.1791T>C

                8.

                rs1485086821 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  12:122354466 (GRCh38)
                  12:122839013 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:122354465:C:T
                  Gene:
                  CLIP1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:
                  NC_000012.12:g.122354466C>T, NC_000012.11:g.122839013C>T, NG_030352.1:g.73104G>A, NM_002956.3:c.1294G>A, NM_002956.2:c.1294G>A, NM_198240.3:c.1294G>A, NM_198240.2:c.1294G>A, NM_198240.1:c.1294G>A, NM_001247997.2:c.1294G>A, NM_001247997.1:c.1294G>A, NM_001389291.1:c.1294G>A, XM_006719552.5:c.1294G>A, XM_006719552.4:c.1294G>A, XM_006719552.3:c.1294G>A, XM_006719552.2:c.1294G>A, XM_006719552.1:c.1294G>A, XM_005253593.4:c.1294G>A, XM_005253593.3:c.1294G>A, XM_005253593.2:c.1294G>A, XM_005253593.1:c.1294G>A, XM_017019788.3:c.1294G>A, XM_017019788.2:c.1294G>A, XM_017019788.1:c.1294G>A, XM_017019791.3:c.1294G>A, XM_017019791.2:c.1294G>A, XM_017019791.1:c.1294G>A, XM_017019792.3:c.1294G>A, XM_017019792.2:c.1294G>A, XM_017019792.1:c.1294G>A, XM_017019789.2:c.1294G>A, XM_017019789.1:c.1294G>A, XM_047429309.1:c.1294G>A, XM_047429310.1:c.1294G>A, XM_047429316.1:c.1294G>A, XM_047429307.1:c.1294G>A, XM_047429311.1:c.1294G>A, XM_047429315.1:c.1294G>A, XM_047429317.1:c.1294G>A, XM_047429312.1:c.1294G>A, XM_047429313.1:c.1294G>A, XM_047429318.1:c.1096G>A, XM_047429314.1:c.1294G>A, XM_047429319.1:c.1294G>A, XM_047429320.1:c.1096G>A, XM_047429321.1:c.1096G>A, NP_002947.1:p.Glu432Lys, NP_937883.1:p.Glu432Lys, NP_001234926.1:p.Glu432Lys, NP_001376220.1:p.Glu432Lys, XP_006719615.1:p.Glu432Lys, XP_005253650.1:p.Glu432Lys, XP_016875277.1:p.Glu432Lys, XP_016875280.1:p.Glu432Lys, XP_016875281.1:p.Glu432Lys, XP_016875278.1:p.Glu432Lys, XP_047285265.1:p.Glu432Lys, XP_047285266.1:p.Glu432Lys, XP_047285272.1:p.Glu432Lys, XP_047285263.1:p.Glu432Lys, XP_047285267.1:p.Glu432Lys, XP_047285271.1:p.Glu432Lys, XP_047285273.1:p.Glu432Lys, XP_047285268.1:p.Glu432Lys, XP_047285269.1:p.Glu432Lys, XP_047285274.1:p.Glu366Lys, XP_047285270.1:p.Glu432Lys, XP_047285275.1:p.Glu432Lys, XP_047285276.1:p.Glu366Lys, XP_047285277.1:p.Glu366Lys

                  9.

                  rs1484995954 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>T [Show Flanks]
                    Chromosome:
                    12:122340998 (GRCh38)
                    12:122825545 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:122340997:G:T
                    Gene:
                    CLIP1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    HGVS:
                    NC_000012.12:g.122340998G>T, NC_000012.11:g.122825545G>T, NG_030352.1:g.86572C>A, NM_002956.3:c.2173C>A, NM_002956.2:c.2173C>A, NM_198240.3:c.2068C>A, NM_198240.2:c.2068C>A, NM_198240.1:c.2068C>A, NM_001247997.2:c.2206C>A, NM_001247997.1:c.2206C>A, NM_001389291.1:c.2068C>A, XM_006719552.5:c.2173C>A, XM_006719552.4:c.2173C>A, XM_006719552.3:c.2173C>A, XM_006719552.2:c.2173C>A, XM_006719552.1:c.2173C>A, XM_005253593.4:c.2206C>A, XM_005253593.3:c.2206C>A, XM_005253593.2:c.2206C>A, XM_005253593.1:c.2206C>A, XM_017019788.3:c.2068C>A, XM_017019788.2:c.2068C>A, XM_017019788.1:c.2068C>A, XM_017019791.3:c.2173C>A, XM_017019791.2:c.2173C>A, XM_017019791.1:c.2173C>A, XM_017019792.3:c.2068C>A, XM_017019792.2:c.2068C>A, XM_017019792.1:c.2068C>A, XM_017019789.2:c.2068C>A, XM_017019789.1:c.2068C>A, XM_047429309.1:c.2173C>A, XM_047429310.1:c.2173C>A, XM_047429316.1:c.2068C>A, XM_047429307.1:c.2206C>A, XM_047429311.1:c.2101C>A, XM_047429315.1:c.2068C>A, XM_047429317.1:c.2068C>A, XM_047429312.1:c.2101C>A, XM_047429313.1:c.2101C>A, XM_047429318.1:c.2008C>A, XM_047429314.1:c.2068C>A, XM_047429319.1:c.2068C>A, XM_047429320.1:c.1870C>A, XM_047429321.1:c.1870C>A, NP_002947.1:p.Gln725Lys, NP_937883.1:p.Gln690Lys, NP_001234926.1:p.Gln736Lys, NP_001376220.1:p.Gln690Lys, XP_006719615.1:p.Gln725Lys, XP_005253650.1:p.Gln736Lys, XP_016875277.1:p.Gln690Lys, XP_016875280.1:p.Gln725Lys, XP_016875281.1:p.Gln690Lys, XP_016875278.1:p.Gln690Lys, XP_047285265.1:p.Gln725Lys, XP_047285266.1:p.Gln725Lys, XP_047285272.1:p.Gln690Lys, XP_047285263.1:p.Gln736Lys, XP_047285267.1:p.Gln701Lys, XP_047285271.1:p.Gln690Lys, XP_047285273.1:p.Gln690Lys, XP_047285268.1:p.Gln701Lys, XP_047285269.1:p.Gln701Lys, XP_047285274.1:p.Gln670Lys, XP_047285270.1:p.Gln690Lys, XP_047285275.1:p.Gln690Lys, XP_047285276.1:p.Gln624Lys, XP_047285277.1:p.Gln624Lys

                    10.

                    rs1484149367 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      12:122340766 (GRCh38)
                      12:122825313 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:122340765:G:A,NC_000012.12:122340765:G:C
                      Gene:
                      CLIP1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000007/1 (GnomAD)
                      C=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000012.12:g.122340766G>A, NC_000012.12:g.122340766G>C, NC_000012.11:g.122825313G>A, NC_000012.11:g.122825313G>C, NG_030352.1:g.86804C>T, NG_030352.1:g.86804C>G, NM_002956.3:c.2405C>T, NM_002956.3:c.2405C>G, NM_002956.2:c.2405C>T, NM_002956.2:c.2405C>G, NM_198240.3:c.2300C>T, NM_198240.3:c.2300C>G, NM_198240.2:c.2300C>T, NM_198240.2:c.2300C>G, NM_198240.1:c.2300C>T, NM_198240.1:c.2300C>G, NM_001247997.2:c.2438C>T, NM_001247997.2:c.2438C>G, NM_001247997.1:c.2438C>T, NM_001247997.1:c.2438C>G, NM_001389291.1:c.2300C>T, NM_001389291.1:c.2300C>G, XM_006719552.5:c.2405C>T, XM_006719552.5:c.2405C>G, XM_006719552.4:c.2405C>T, XM_006719552.4:c.2405C>G, XM_006719552.3:c.2405C>T, XM_006719552.3:c.2405C>G, XM_006719552.2:c.2405C>T, XM_006719552.2:c.2405C>G, XM_006719552.1:c.2405C>T, XM_006719552.1:c.2405C>G, XM_005253593.4:c.2438C>T, XM_005253593.4:c.2438C>G, XM_005253593.3:c.2438C>T, XM_005253593.3:c.2438C>G, XM_005253593.2:c.2438C>T, XM_005253593.2:c.2438C>G, XM_005253593.1:c.2438C>T, XM_005253593.1:c.2438C>G, XM_017019788.3:c.2300C>T, XM_017019788.3:c.2300C>G, XM_017019788.2:c.2300C>T, XM_017019788.2:c.2300C>G, XM_017019788.1:c.2300C>T, XM_017019788.1:c.2300C>G, XM_017019791.3:c.2405C>T, XM_017019791.3:c.2405C>G, XM_017019791.2:c.2405C>T, XM_017019791.2:c.2405C>G, XM_017019791.1:c.2405C>T, XM_017019791.1:c.2405C>G, XM_017019792.3:c.2300C>T, XM_017019792.3:c.2300C>G, XM_017019792.2:c.2300C>T, XM_017019792.2:c.2300C>G, XM_017019792.1:c.2300C>T, XM_017019792.1:c.2300C>G, XM_017019789.2:c.2300C>T, XM_017019789.2:c.2300C>G, XM_017019789.1:c.2300C>T, XM_017019789.1:c.2300C>G, XM_047429309.1:c.2405C>T, XM_047429309.1:c.2405C>G, XM_047429310.1:c.2405C>T, XM_047429310.1:c.2405C>G, XM_047429316.1:c.2300C>T, XM_047429316.1:c.2300C>G, XM_047429307.1:c.2438C>T, XM_047429307.1:c.2438C>G, XM_047429311.1:c.2333C>T, XM_047429311.1:c.2333C>G, XM_047429315.1:c.2300C>T, XM_047429315.1:c.2300C>G, XM_047429317.1:c.2300C>T, XM_047429317.1:c.2300C>G, XM_047429312.1:c.2333C>T, XM_047429312.1:c.2333C>G, XM_047429313.1:c.2333C>T, XM_047429313.1:c.2333C>G, XM_047429318.1:c.2240C>T, XM_047429318.1:c.2240C>G, XM_047429314.1:c.2300C>T, XM_047429314.1:c.2300C>G, XM_047429319.1:c.2300C>T, XM_047429319.1:c.2300C>G, XM_047429320.1:c.2102C>T, XM_047429320.1:c.2102C>G, XM_047429321.1:c.2102C>T, XM_047429321.1:c.2102C>G, NP_002947.1:p.Ala802Val, NP_002947.1:p.Ala802Gly, NP_937883.1:p.Ala767Val, NP_937883.1:p.Ala767Gly, NP_001234926.1:p.Ala813Val, NP_001234926.1:p.Ala813Gly, NP_001376220.1:p.Ala767Val, NP_001376220.1:p.Ala767Gly, XP_006719615.1:p.Ala802Val, XP_006719615.1:p.Ala802Gly, XP_005253650.1:p.Ala813Val, XP_005253650.1:p.Ala813Gly, XP_016875277.1:p.Ala767Val, XP_016875277.1:p.Ala767Gly, XP_016875280.1:p.Ala802Val, XP_016875280.1:p.Ala802Gly, XP_016875281.1:p.Ala767Val, XP_016875281.1:p.Ala767Gly, XP_016875278.1:p.Ala767Val, XP_016875278.1:p.Ala767Gly, XP_047285265.1:p.Ala802Val, XP_047285265.1:p.Ala802Gly, XP_047285266.1:p.Ala802Val, XP_047285266.1:p.Ala802Gly, XP_047285272.1:p.Ala767Val, XP_047285272.1:p.Ala767Gly, XP_047285263.1:p.Ala813Val, XP_047285263.1:p.Ala813Gly, XP_047285267.1:p.Ala778Val, XP_047285267.1:p.Ala778Gly, XP_047285271.1:p.Ala767Val, XP_047285271.1:p.Ala767Gly, XP_047285273.1:p.Ala767Val, XP_047285273.1:p.Ala767Gly, XP_047285268.1:p.Ala778Val, XP_047285268.1:p.Ala778Gly, XP_047285269.1:p.Ala778Val, XP_047285269.1:p.Ala778Gly, XP_047285274.1:p.Ala747Val, XP_047285274.1:p.Ala747Gly, XP_047285270.1:p.Ala767Val, XP_047285270.1:p.Ala767Gly, XP_047285275.1:p.Ala767Val, XP_047285275.1:p.Ala767Gly, XP_047285276.1:p.Ala701Val, XP_047285276.1:p.Ala701Gly, XP_047285277.1:p.Ala701Val, XP_047285277.1:p.Ala701Gly

                      11.

                      rs1483547023 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        12:122272978 (GRCh38)
                        12:122757525 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:122272977:T:C
                        Gene:
                        CLIP1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000012.12:g.122272978T>C, NC_000012.11:g.122757525T>C, NG_030352.1:g.154592A>G, NM_002956.3:c.4181A>G, NM_002956.2:c.4181A>G, NM_198240.3:c.4076A>G, NM_198240.2:c.4076A>G, NM_198240.1:c.4076A>G, NM_001247997.2:c.4214A>G, NM_001247997.1:c.4214A>G, NM_001389291.1:c.6344A>G, XM_006719552.5:c.4187A>G, XM_006719552.4:c.4187A>G, XM_006719552.3:c.4187A>G, XM_006719552.2:c.4187A>G, XM_006719552.1:c.4187A>G, XM_005253593.4:c.4220A>G, XM_005253593.3:c.4220A>G, XM_005253593.2:c.4220A>G, XM_005253593.1:c.4220A>G, XM_017019788.3:c.4082A>G, XM_017019788.2:c.4082A>G, XM_017019788.1:c.4082A>G, XM_017019791.3:c.4070A>G, XM_017019791.2:c.4070A>G, XM_017019791.1:c.4070A>G, XM_017019792.3:c.3965A>G, XM_017019792.2:c.3965A>G, XM_017019792.1:c.3965A>G, XM_017019789.2:c.4082A>G, XM_017019789.1:c.4082A>G, XM_047429309.1:c.4187A>G, XM_047429310.1:c.4181A>G, XM_047429316.1:c.4076A>G, XM_047429307.1:c.4220A>G, XM_047429311.1:c.4115A>G, XM_047429315.1:c.4082A>G, XM_047429317.1:c.4076A>G, XM_047429312.1:c.4115A>G, XM_047429313.1:c.4109A>G, XM_047429318.1:c.4022A>G, XM_047429314.1:c.4082A>G, XM_047429319.1:c.3959A>G, XM_047429320.1:c.3884A>G, XM_047429321.1:c.3761A>G, NP_002947.1:p.His1394Arg, NP_937883.1:p.His1359Arg, NP_001234926.1:p.His1405Arg, NP_001376220.1:p.His2115Arg, XP_006719615.1:p.His1396Arg, XP_005253650.1:p.His1407Arg, XP_016875277.1:p.His1361Arg, XP_016875280.1:p.His1357Arg, XP_016875281.1:p.His1322Arg, XP_016875278.1:p.His1361Arg, XP_047285265.1:p.His1396Arg, XP_047285266.1:p.His1394Arg, XP_047285272.1:p.His1359Arg, XP_047285263.1:p.His1407Arg, XP_047285267.1:p.His1372Arg, XP_047285271.1:p.His1361Arg, XP_047285273.1:p.His1359Arg, XP_047285268.1:p.His1372Arg, XP_047285269.1:p.His1370Arg, XP_047285274.1:p.His1341Arg, XP_047285270.1:p.His1361Arg, XP_047285275.1:p.His1320Arg, XP_047285276.1:p.His1295Arg, XP_047285277.1:p.His1254Arg

                        12.

                        rs1483100801 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A,G [Show Flanks]
                          Chromosome:
                          12:122361119 (GRCh38)
                          12:122845666 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:122361118:C:A,NC_000012.12:122361118:C:G
                          Gene:
                          CLIP1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          HGVS:
                          NC_000012.12:g.122361119C>A, NC_000012.12:g.122361119C>G, NC_000012.11:g.122845666C>A, NC_000012.11:g.122845666C>G, NG_030352.1:g.66451G>T, NG_030352.1:g.66451G>C, NM_002956.3:c.845G>T, NM_002956.3:c.845G>C, NM_002956.2:c.845G>T, NM_002956.2:c.845G>C, NM_198240.3:c.845G>T, NM_198240.3:c.845G>C, NM_198240.2:c.845G>T, NM_198240.2:c.845G>C, NM_198240.1:c.845G>T, NM_198240.1:c.845G>C, NM_001247997.2:c.845G>T, NM_001247997.2:c.845G>C, NM_001247997.1:c.845G>T, NM_001247997.1:c.845G>C, NM_001389291.1:c.845G>T, NM_001389291.1:c.845G>C, XM_006719552.5:c.845G>T, XM_006719552.5:c.845G>C, XM_006719552.4:c.845G>T, XM_006719552.4:c.845G>C, XM_006719552.3:c.845G>T, XM_006719552.3:c.845G>C, XM_006719552.2:c.845G>T, XM_006719552.2:c.845G>C, XM_006719552.1:c.845G>T, XM_006719552.1:c.845G>C, XM_005253593.4:c.845G>T, XM_005253593.4:c.845G>C, XM_005253593.3:c.845G>T, XM_005253593.3:c.845G>C, XM_005253593.2:c.845G>T, XM_005253593.2:c.845G>C, XM_005253593.1:c.845G>T, XM_005253593.1:c.845G>C, XM_017019788.3:c.845G>T, XM_017019788.3:c.845G>C, XM_017019788.2:c.845G>T, XM_017019788.2:c.845G>C, XM_017019788.1:c.845G>T, XM_017019788.1:c.845G>C, XM_017019791.3:c.845G>T, XM_017019791.3:c.845G>C, XM_017019791.2:c.845G>T, XM_017019791.2:c.845G>C, XM_017019791.1:c.845G>T, XM_017019791.1:c.845G>C, XM_017019792.3:c.845G>T, XM_017019792.3:c.845G>C, XM_017019792.2:c.845G>T, XM_017019792.2:c.845G>C, XM_017019792.1:c.845G>T, XM_017019792.1:c.845G>C, XM_017019789.2:c.845G>T, XM_017019789.2:c.845G>C, XM_017019789.1:c.845G>T, XM_017019789.1:c.845G>C, XM_047429309.1:c.845G>T, XM_047429309.1:c.845G>C, XM_047429310.1:c.845G>T, XM_047429310.1:c.845G>C, XM_047429316.1:c.845G>T, XM_047429316.1:c.845G>C, XM_047429307.1:c.845G>T, XM_047429307.1:c.845G>C, XM_047429311.1:c.845G>T, XM_047429311.1:c.845G>C, XM_047429315.1:c.845G>T, XM_047429315.1:c.845G>C, XM_047429317.1:c.845G>T, XM_047429317.1:c.845G>C, XM_047429312.1:c.845G>T, XM_047429312.1:c.845G>C, XM_047429313.1:c.845G>T, XM_047429313.1:c.845G>C, XM_047429318.1:c.845G>T, XM_047429318.1:c.845G>C, XM_047429314.1:c.845G>T, XM_047429314.1:c.845G>C, XM_047429319.1:c.845G>T, XM_047429319.1:c.845G>C, XM_047429320.1:c.845G>T, XM_047429320.1:c.845G>C, XM_047429321.1:c.845G>T, XM_047429321.1:c.845G>C, NP_002947.1:p.Gly282Val, NP_002947.1:p.Gly282Ala, NP_937883.1:p.Gly282Val, NP_937883.1:p.Gly282Ala, NP_001234926.1:p.Gly282Val, NP_001234926.1:p.Gly282Ala, NP_001376220.1:p.Gly282Val, NP_001376220.1:p.Gly282Ala, XP_006719615.1:p.Gly282Val, XP_006719615.1:p.Gly282Ala, XP_005253650.1:p.Gly282Val, XP_005253650.1:p.Gly282Ala, XP_016875277.1:p.Gly282Val, XP_016875277.1:p.Gly282Ala, XP_016875280.1:p.Gly282Val, XP_016875280.1:p.Gly282Ala, XP_016875281.1:p.Gly282Val, XP_016875281.1:p.Gly282Ala, XP_016875278.1:p.Gly282Val, XP_016875278.1:p.Gly282Ala, XP_047285265.1:p.Gly282Val, XP_047285265.1:p.Gly282Ala, XP_047285266.1:p.Gly282Val, XP_047285266.1:p.Gly282Ala, XP_047285272.1:p.Gly282Val, XP_047285272.1:p.Gly282Ala, XP_047285263.1:p.Gly282Val, XP_047285263.1:p.Gly282Ala, XP_047285267.1:p.Gly282Val, XP_047285267.1:p.Gly282Ala, XP_047285271.1:p.Gly282Val, XP_047285271.1:p.Gly282Ala, XP_047285273.1:p.Gly282Val, XP_047285273.1:p.Gly282Ala, XP_047285268.1:p.Gly282Val, XP_047285268.1:p.Gly282Ala, XP_047285269.1:p.Gly282Val, XP_047285269.1:p.Gly282Ala, XP_047285274.1:p.Gly282Val, XP_047285274.1:p.Gly282Ala, XP_047285270.1:p.Gly282Val, XP_047285270.1:p.Gly282Ala, XP_047285275.1:p.Gly282Val, XP_047285275.1:p.Gly282Ala, XP_047285276.1:p.Gly282Val, XP_047285276.1:p.Gly282Ala, XP_047285277.1:p.Gly282Val, XP_047285277.1:p.Gly282Ala

                          13.

                          rs1483008524 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            TCT>- [Show Flanks]
                            Chromosome:
                            12:122328418 (GRCh38)
                            12:122812965 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:122328413:TTCTTCT:TTCT
                            Gene:
                            CLIP1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,inframe_deletion
                            Validated:
                            by frequency,by cluster
                            MAF:
                            -=0.000008/2 (GnomAD_exomes)
                            -=0.000035/1 (TOMMO)
                            HGVS:
                            NC_000012.12:g.122328415TCT[1], NC_000012.11:g.122812962TCT[1], NG_030352.1:g.99151GAA[1], NM_002956.3:c.2842GAA[1], NM_002956.2:c.2842GAA[1], NM_198240.3:c.2737GAA[1], NM_198240.2:c.2737GAA[1], NM_198240.1:c.2737GAA[1], NM_001247997.2:c.2875GAA[1], NM_001247997.1:c.2875GAA[1], NM_001389291.1:c.2737GAA[1], XM_006719552.5:c.2842GAA[1], XM_006719552.4:c.2842GAA[1], XM_006719552.3:c.2842GAA[1], XM_006719552.2:c.2842GAA[1], XM_006719552.1:c.2842GAA[1], XM_005253593.4:c.2875GAA[1], XM_005253593.3:c.2875GAA[1], XM_005253593.2:c.2875GAA[1], XM_005253593.1:c.2875GAA[1], XM_017019788.3:c.2737GAA[1], XM_017019788.2:c.2737GAA[1], XM_017019788.1:c.2737GAA[1], XM_017019791.3:c.2725GAA[1], XM_017019791.2:c.2725GAA[1], XM_017019791.1:c.2725GAA[1], XM_017019792.3:c.2620GAA[1], XM_017019792.2:c.2620GAA[1], XM_017019792.1:c.2620GAA[1], XM_017019789.2:c.2737GAA[1], XM_017019789.1:c.2737GAA[1], XM_047429309.1:c.2842GAA[1], XM_047429310.1:c.2842GAA[1], XM_047429316.1:c.2737GAA[1], XM_047429307.1:c.2875GAA[1], XM_047429311.1:c.2770GAA[1], XM_047429315.1:c.2737GAA[1], XM_047429317.1:c.2737GAA[1], XM_047429312.1:c.2770GAA[1], XM_047429313.1:c.2770GAA[1], XM_047429318.1:c.2677GAA[1], XM_047429314.1:c.2737GAA[1], XM_047429319.1:c.2620GAA[1], XM_047429320.1:c.2539GAA[1], XM_047429321.1:c.2422GAA[1], NP_002947.1:p.Glu949del, NP_937883.1:p.Glu914del, NP_001234926.1:p.Glu960del, NP_001376220.1:p.Glu914del, XP_006719615.1:p.Glu949del, XP_005253650.1:p.Glu960del, XP_016875277.1:p.Glu914del, XP_016875280.1:p.Glu910del, XP_016875281.1:p.Glu875del, XP_016875278.1:p.Glu914del, XP_047285265.1:p.Glu949del, XP_047285266.1:p.Glu949del, XP_047285272.1:p.Glu914del, XP_047285263.1:p.Glu960del, XP_047285267.1:p.Glu925del, XP_047285271.1:p.Glu914del, XP_047285273.1:p.Glu914del, XP_047285268.1:p.Glu925del, XP_047285269.1:p.Glu925del, XP_047285274.1:p.Glu894del, XP_047285270.1:p.Glu914del, XP_047285275.1:p.Glu875del, XP_047285276.1:p.Glu848del, XP_047285277.1:p.Glu809del

                            14.

                            rs1481199665 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A [Show Flanks]
                              Chromosome:
                              12:122319238 (GRCh38)
                              12:122803785 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:122319237:C:A
                              Gene:
                              CLIP1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              A=0.000071/1 (ALFA)
                              A=0.000007/1 (GnomAD)
                              A=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000012.12:g.122319238C>A, NC_000012.11:g.122803785C>A, NG_030352.1:g.108332G>T, NM_002956.3:c.3327G>T, NM_002956.2:c.3327G>T, NM_198240.3:c.3222G>T, NM_198240.2:c.3222G>T, NM_198240.1:c.3222G>T, NM_001247997.2:c.3360G>T, NM_001247997.1:c.3360G>T, NM_001389291.1:c.5490G>T, XM_006719552.5:c.3327G>T, XM_006719552.4:c.3327G>T, XM_006719552.3:c.3327G>T, XM_006719552.2:c.3327G>T, XM_006719552.1:c.3327G>T, XM_005253593.4:c.3360G>T, XM_005253593.3:c.3360G>T, XM_005253593.2:c.3360G>T, XM_005253593.1:c.3360G>T, XM_017019788.3:c.3222G>T, XM_017019788.2:c.3222G>T, XM_017019788.1:c.3222G>T, XM_017019791.3:c.3210G>T, XM_017019791.2:c.3210G>T, XM_017019791.1:c.3210G>T, XM_017019792.3:c.3105G>T, XM_017019792.2:c.3105G>T, XM_017019792.1:c.3105G>T, XM_017019789.2:c.3222G>T, XM_017019789.1:c.3222G>T, XM_047429309.1:c.3327G>T, XM_047429310.1:c.3327G>T, XM_047429316.1:c.3222G>T, XM_047429307.1:c.3360G>T, XM_047429311.1:c.3255G>T, XM_047429315.1:c.3222G>T, XM_047429317.1:c.3222G>T, XM_047429312.1:c.3255G>T, XM_047429313.1:c.3255G>T, XM_047429318.1:c.3162G>T, XM_047429314.1:c.3222G>T, XM_047429319.1:c.3105G>T, XM_047429320.1:c.3024G>T, XM_047429321.1:c.2907G>T, NP_002947.1:p.Gln1109His, NP_937883.1:p.Gln1074His, NP_001234926.1:p.Gln1120His, NP_001376220.1:p.Gln1830His, XP_006719615.1:p.Gln1109His, XP_005253650.1:p.Gln1120His, XP_016875277.1:p.Gln1074His, XP_016875280.1:p.Gln1070His, XP_016875281.1:p.Gln1035His, XP_016875278.1:p.Gln1074His, XP_047285265.1:p.Gln1109His, XP_047285266.1:p.Gln1109His, XP_047285272.1:p.Gln1074His, XP_047285263.1:p.Gln1120His, XP_047285267.1:p.Gln1085His, XP_047285271.1:p.Gln1074His, XP_047285273.1:p.Gln1074His, XP_047285268.1:p.Gln1085His, XP_047285269.1:p.Gln1085His, XP_047285274.1:p.Gln1054His, XP_047285270.1:p.Gln1074His, XP_047285275.1:p.Gln1035His, XP_047285276.1:p.Gln1008His, XP_047285277.1:p.Gln969His

                              15.

                              rs1481047856 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                12:122336679 (GRCh38)
                                12:122821226 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:122336678:C:T
                                Gene:
                                CLIP1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,intron_variant,missense_variant
                                HGVS:
                                NC_000012.12:g.122336679C>T, NC_000012.11:g.122821226C>T, NG_030352.1:g.90891G>A, NM_002956.3:c.2488G>A, NM_002956.2:c.2488G>A, NM_198240.3:c.2383G>A, NM_198240.2:c.2383G>A, NM_198240.1:c.2383G>A, NM_001247997.2:c.2521G>A, NM_001247997.1:c.2521G>A, NM_001389291.1:c.2383G>A, XM_006719552.5:c.2488G>A, XM_006719552.4:c.2488G>A, XM_006719552.3:c.2488G>A, XM_006719552.2:c.2488G>A, XM_006719552.1:c.2488G>A, XM_005253593.4:c.2521G>A, XM_005253593.3:c.2521G>A, XM_005253593.2:c.2521G>A, XM_005253593.1:c.2521G>A, XM_017019788.3:c.2383G>A, XM_017019788.2:c.2383G>A, XM_017019788.1:c.2383G>A, XM_017019789.2:c.2383G>A, XM_017019789.1:c.2383G>A, XM_047429309.1:c.2488G>A, XM_047429310.1:c.2488G>A, XM_047429316.1:c.2383G>A, XM_047429307.1:c.2521G>A, XM_047429311.1:c.2416G>A, XM_047429315.1:c.2383G>A, XM_047429317.1:c.2383G>A, XM_047429312.1:c.2416G>A, XM_047429313.1:c.2416G>A, XM_047429318.1:c.2323G>A, XM_047429314.1:c.2383G>A, XM_047429320.1:c.2185G>A, NP_002947.1:p.Glu830Lys, NP_937883.1:p.Glu795Lys, NP_001234926.1:p.Glu841Lys, NP_001376220.1:p.Glu795Lys, XP_006719615.1:p.Glu830Lys, XP_005253650.1:p.Glu841Lys, XP_016875277.1:p.Glu795Lys, XP_016875278.1:p.Glu795Lys, XP_047285265.1:p.Glu830Lys, XP_047285266.1:p.Glu830Lys, XP_047285272.1:p.Glu795Lys, XP_047285263.1:p.Glu841Lys, XP_047285267.1:p.Glu806Lys, XP_047285271.1:p.Glu795Lys, XP_047285273.1:p.Glu795Lys, XP_047285268.1:p.Glu806Lys, XP_047285269.1:p.Glu806Lys, XP_047285274.1:p.Glu775Lys, XP_047285270.1:p.Glu795Lys, XP_047285276.1:p.Glu729Lys

                                16.

                                rs1479354822 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  12:122340905 (GRCh38)
                                  12:122825452 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:122340904:T:C
                                  Gene:
                                  CLIP1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000012.12:g.122340905T>C, NC_000012.11:g.122825452T>C, NG_030352.1:g.86665A>G, NM_002956.3:c.2266A>G, NM_002956.2:c.2266A>G, NM_198240.3:c.2161A>G, NM_198240.2:c.2161A>G, NM_198240.1:c.2161A>G, NM_001247997.2:c.2299A>G, NM_001247997.1:c.2299A>G, NM_001389291.1:c.2161A>G, XM_006719552.5:c.2266A>G, XM_006719552.4:c.2266A>G, XM_006719552.3:c.2266A>G, XM_006719552.2:c.2266A>G, XM_006719552.1:c.2266A>G, XM_005253593.4:c.2299A>G, XM_005253593.3:c.2299A>G, XM_005253593.2:c.2299A>G, XM_005253593.1:c.2299A>G, XM_017019788.3:c.2161A>G, XM_017019788.2:c.2161A>G, XM_017019788.1:c.2161A>G, XM_017019791.3:c.2266A>G, XM_017019791.2:c.2266A>G, XM_017019791.1:c.2266A>G, XM_017019792.3:c.2161A>G, XM_017019792.2:c.2161A>G, XM_017019792.1:c.2161A>G, XM_017019789.2:c.2161A>G, XM_017019789.1:c.2161A>G, XM_047429309.1:c.2266A>G, XM_047429310.1:c.2266A>G, XM_047429316.1:c.2161A>G, XM_047429307.1:c.2299A>G, XM_047429311.1:c.2194A>G, XM_047429315.1:c.2161A>G, XM_047429317.1:c.2161A>G, XM_047429312.1:c.2194A>G, XM_047429313.1:c.2194A>G, XM_047429318.1:c.2101A>G, XM_047429314.1:c.2161A>G, XM_047429319.1:c.2161A>G, XM_047429320.1:c.1963A>G, XM_047429321.1:c.1963A>G, NP_002947.1:p.Lys756Glu, NP_937883.1:p.Lys721Glu, NP_001234926.1:p.Lys767Glu, NP_001376220.1:p.Lys721Glu, XP_006719615.1:p.Lys756Glu, XP_005253650.1:p.Lys767Glu, XP_016875277.1:p.Lys721Glu, XP_016875280.1:p.Lys756Glu, XP_016875281.1:p.Lys721Glu, XP_016875278.1:p.Lys721Glu, XP_047285265.1:p.Lys756Glu, XP_047285266.1:p.Lys756Glu, XP_047285272.1:p.Lys721Glu, XP_047285263.1:p.Lys767Glu, XP_047285267.1:p.Lys732Glu, XP_047285271.1:p.Lys721Glu, XP_047285273.1:p.Lys721Glu, XP_047285268.1:p.Lys732Glu, XP_047285269.1:p.Lys732Glu, XP_047285274.1:p.Lys701Glu, XP_047285270.1:p.Lys721Glu, XP_047285275.1:p.Lys721Glu, XP_047285276.1:p.Lys655Glu, XP_047285277.1:p.Lys655Glu

                                  17.

                                  rs1479201417 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>T [Show Flanks]
                                    Chromosome:
                                    12:122377577 (GRCh38)
                                    12:122862124 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:122377576:C:T
                                    Gene:
                                    CLIP1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0.000007/1 (GnomAD)
                                    T=0.000011/3 (TOPMED)
                                    HGVS:
                                    NC_000012.12:g.122377577C>T, NC_000012.11:g.122862124C>T, NG_030352.1:g.49993G>A, NM_002956.3:c.469G>A, NM_002956.2:c.469G>A, NM_198240.3:c.469G>A, NM_198240.2:c.469G>A, NM_198240.1:c.469G>A, NM_001247997.2:c.469G>A, NM_001247997.1:c.469G>A, NM_001389291.1:c.469G>A, XM_006719552.5:c.469G>A, XM_006719552.4:c.469G>A, XM_006719552.3:c.469G>A, XM_006719552.2:c.469G>A, XM_006719552.1:c.469G>A, XM_005253593.4:c.469G>A, XM_005253593.3:c.469G>A, XM_005253593.2:c.469G>A, XM_005253593.1:c.469G>A, XM_017019788.3:c.469G>A, XM_017019788.2:c.469G>A, XM_017019788.1:c.469G>A, XM_017019791.3:c.469G>A, XM_017019791.2:c.469G>A, XM_017019791.1:c.469G>A, XM_017019792.3:c.469G>A, XM_017019792.2:c.469G>A, XM_017019792.1:c.469G>A, XM_017019789.2:c.469G>A, XM_017019789.1:c.469G>A, XM_047429309.1:c.469G>A, XM_047429310.1:c.469G>A, XM_047429316.1:c.469G>A, XM_047429307.1:c.469G>A, XM_047429311.1:c.469G>A, XM_047429315.1:c.469G>A, XM_047429317.1:c.469G>A, XM_047429312.1:c.469G>A, XM_047429313.1:c.469G>A, XM_047429318.1:c.469G>A, XM_047429314.1:c.469G>A, XM_047429319.1:c.469G>A, XM_047429320.1:c.469G>A, XM_047429321.1:c.469G>A, NP_002947.1:p.Val157Met, NP_937883.1:p.Val157Met, NP_001234926.1:p.Val157Met, NP_001376220.1:p.Val157Met, XP_006719615.1:p.Val157Met, XP_005253650.1:p.Val157Met, XP_016875277.1:p.Val157Met, XP_016875280.1:p.Val157Met, XP_016875281.1:p.Val157Met, XP_016875278.1:p.Val157Met, XP_047285265.1:p.Val157Met, XP_047285266.1:p.Val157Met, XP_047285272.1:p.Val157Met, XP_047285263.1:p.Val157Met, XP_047285267.1:p.Val157Met, XP_047285271.1:p.Val157Met, XP_047285273.1:p.Val157Met, XP_047285268.1:p.Val157Met, XP_047285269.1:p.Val157Met, XP_047285274.1:p.Val157Met, XP_047285270.1:p.Val157Met, XP_047285275.1:p.Val157Met, XP_047285276.1:p.Val157Met, XP_047285277.1:p.Val157Met

                                    18.

                                    rs1479162461 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A [Show Flanks]
                                      Chromosome:
                                      12:122309819 (GRCh38)
                                      12:122794366 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:122309818:G:A
                                      Gene:
                                      CLIP1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000043/1 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (GnomAD_exomes)
                                      G=0.5/1 (SGDP_PRJ)
                                      HGVS:
                                      NC_000012.12:g.122309819G>A, NC_000012.11:g.122794366G>A, NG_030352.1:g.117751C>T, NM_002956.3:c.3504C>T, NM_002956.2:c.3504C>T, NM_198240.3:c.3399C>T, NM_198240.2:c.3399C>T, NM_198240.1:c.3399C>T, NM_001247997.2:c.3537C>T, NM_001247997.1:c.3537C>T, NM_001389291.1:c.5667C>T, XM_006719552.5:c.3504C>T, XM_006719552.4:c.3504C>T, XM_006719552.3:c.3504C>T, XM_006719552.2:c.3504C>T, XM_006719552.1:c.3504C>T, XM_005253593.4:c.3537C>T, XM_005253593.3:c.3537C>T, XM_005253593.2:c.3537C>T, XM_005253593.1:c.3537C>T, XM_017019788.3:c.3399C>T, XM_017019788.2:c.3399C>T, XM_017019788.1:c.3399C>T, XM_017019791.3:c.3387C>T, XM_017019791.2:c.3387C>T, XM_017019791.1:c.3387C>T, XM_017019792.3:c.3282C>T, XM_017019792.2:c.3282C>T, XM_017019792.1:c.3282C>T, XM_017019789.2:c.3399C>T, XM_017019789.1:c.3399C>T, XM_047429309.1:c.3504C>T, XM_047429310.1:c.3504C>T, XM_047429316.1:c.3399C>T, XM_047429307.1:c.3537C>T, XM_047429311.1:c.3432C>T, XM_047429315.1:c.3399C>T, XM_047429317.1:c.3399C>T, XM_047429312.1:c.3432C>T, XM_047429313.1:c.3432C>T, XM_047429318.1:c.3339C>T, XM_047429314.1:c.3399C>T, XM_047429319.1:c.3282C>T, XM_047429320.1:c.3201C>T, XM_047429321.1:c.3084C>T

                                      19.

                                      rs1478842339 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        12:122319274 (GRCh38)
                                        12:122803821 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:122319273:G:C
                                        Gene:
                                        CLIP1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,synonymous_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000012.12:g.122319274G>C, NC_000012.11:g.122803821G>C, NG_030352.1:g.108296C>G, NM_002956.3:c.3291C>G, NM_002956.2:c.3291C>G, NM_198240.3:c.3186C>G, NM_198240.2:c.3186C>G, NM_198240.1:c.3186C>G, NM_001247997.2:c.3324C>G, NM_001247997.1:c.3324C>G, NM_001389291.1:c.5454C>G, XM_006719552.5:c.3291C>G, XM_006719552.4:c.3291C>G, XM_006719552.3:c.3291C>G, XM_006719552.2:c.3291C>G, XM_006719552.1:c.3291C>G, XM_005253593.4:c.3324C>G, XM_005253593.3:c.3324C>G, XM_005253593.2:c.3324C>G, XM_005253593.1:c.3324C>G, XM_017019788.3:c.3186C>G, XM_017019788.2:c.3186C>G, XM_017019788.1:c.3186C>G, XM_017019791.3:c.3174C>G, XM_017019791.2:c.3174C>G, XM_017019791.1:c.3174C>G, XM_017019792.3:c.3069C>G, XM_017019792.2:c.3069C>G, XM_017019792.1:c.3069C>G, XM_017019789.2:c.3186C>G, XM_017019789.1:c.3186C>G, XM_047429309.1:c.3291C>G, XM_047429310.1:c.3291C>G, XM_047429316.1:c.3186C>G, XM_047429307.1:c.3324C>G, XM_047429311.1:c.3219C>G, XM_047429315.1:c.3186C>G, XM_047429317.1:c.3186C>G, XM_047429312.1:c.3219C>G, XM_047429313.1:c.3219C>G, XM_047429318.1:c.3126C>G, XM_047429314.1:c.3186C>G, XM_047429319.1:c.3069C>G, XM_047429320.1:c.2988C>G, XM_047429321.1:c.2871C>G

                                        20.

                                        rs1478308530 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          12:122319234 (GRCh38)
                                          12:122803781 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:122319233:C:T
                                          Gene:
                                          CLIP1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          HGVS:
                                          NC_000012.12:g.122319234C>T, NC_000012.11:g.122803781C>T, NG_030352.1:g.108336G>A, NM_002956.3:c.3331G>A, NM_002956.2:c.3331G>A, NM_198240.3:c.3226G>A, NM_198240.2:c.3226G>A, NM_198240.1:c.3226G>A, NM_001247997.2:c.3364G>A, NM_001247997.1:c.3364G>A, NM_001389291.1:c.5494G>A, XM_006719552.5:c.3331G>A, XM_006719552.4:c.3331G>A, XM_006719552.3:c.3331G>A, XM_006719552.2:c.3331G>A, XM_006719552.1:c.3331G>A, XM_005253593.4:c.3364G>A, XM_005253593.3:c.3364G>A, XM_005253593.2:c.3364G>A, XM_005253593.1:c.3364G>A, XM_017019788.3:c.3226G>A, XM_017019788.2:c.3226G>A, XM_017019788.1:c.3226G>A, XM_017019791.3:c.3214G>A, XM_017019791.2:c.3214G>A, XM_017019791.1:c.3214G>A, XM_017019792.3:c.3109G>A, XM_017019792.2:c.3109G>A, XM_017019792.1:c.3109G>A, XM_017019789.2:c.3226G>A, XM_017019789.1:c.3226G>A, XM_047429309.1:c.3331G>A, XM_047429310.1:c.3331G>A, XM_047429316.1:c.3226G>A, XM_047429307.1:c.3364G>A, XM_047429311.1:c.3259G>A, XM_047429315.1:c.3226G>A, XM_047429317.1:c.3226G>A, XM_047429312.1:c.3259G>A, XM_047429313.1:c.3259G>A, XM_047429318.1:c.3166G>A, XM_047429314.1:c.3226G>A, XM_047429319.1:c.3109G>A, XM_047429320.1:c.3028G>A, XM_047429321.1:c.2911G>A, NP_002947.1:p.Glu1111Lys, NP_937883.1:p.Glu1076Lys, NP_001234926.1:p.Glu1122Lys, NP_001376220.1:p.Glu1832Lys, XP_006719615.1:p.Glu1111Lys, XP_005253650.1:p.Glu1122Lys, XP_016875277.1:p.Glu1076Lys, XP_016875280.1:p.Glu1072Lys, XP_016875281.1:p.Glu1037Lys, XP_016875278.1:p.Glu1076Lys, XP_047285265.1:p.Glu1111Lys, XP_047285266.1:p.Glu1111Lys, XP_047285272.1:p.Glu1076Lys, XP_047285263.1:p.Glu1122Lys, XP_047285267.1:p.Glu1087Lys, XP_047285271.1:p.Glu1076Lys, XP_047285273.1:p.Glu1076Lys, XP_047285268.1:p.Glu1087Lys, XP_047285269.1:p.Glu1087Lys, XP_047285274.1:p.Glu1056Lys, XP_047285270.1:p.Glu1076Lys, XP_047285275.1:p.Glu1037Lys, XP_047285276.1:p.Glu1010Lys, XP_047285277.1:p.Glu971Lys

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