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Items: 1 to 20 of 1733

1.

rs1490846935 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    9:120439850 (GRCh38)
    9:123202128 (GRCh37)
    Canonical SPDI:
    NC_000009.12:120439849:T:C
    Gene:
    CDK5RAP2 (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.120439850T>C, NC_000009.11:g.123202128T>C, NG_008999.1:g.145310A>G, NM_018249.6:c.3271A>G, NM_018249.5:c.3271A>G, NM_001011649.3:c.3271A>G, NM_001011649.2:c.3271A>G, NR_073556.2:n.3667A>G, NR_073556.1:n.3670A>G, NR_073557.2:n.3540A>G, NR_073557.1:n.3543A>G, NR_073558.2:n.3537A>G, NR_073558.1:n.3540A>G, NR_073554.2:n.3537A>G, NR_073554.1:n.3540A>G, NR_073555.2:n.3460A>G, NR_073555.1:n.3463A>G, NM_001272039.2:c.2581A>G, NM_001272039.1:c.2581A>G, XM_011518860.2:c.3268A>G, XM_006717182.2:c.3175A>G, XM_017014921.2:c.3172A>G, XM_006717185.2:c.2584A>G, XM_006717185.1:c.2584A>G, XM_017014923.2:c.2584A>G, XM_017014923.1:c.2584A>G, NM_001410994.1:c.3268A>G, NM_001410993.1:c.3175A>G, NM_001410992.1:c.3172A>G, XM_047423587.1:c.3268A>G, XM_047423588.1:c.3175A>G, XM_047423589.1:c.3172A>G, XM_047423590.1:c.2437A>G, NP_060719.4:p.Lys1091Glu, NP_001011649.1:p.Lys1091Glu, NP_001258968.1:p.Lys861Glu, XP_011517162.1:p.Lys1090Glu, XP_006717245.1:p.Lys1059Glu, XP_016870410.1:p.Lys1058Glu, XP_006717248.1:p.Lys862Glu, XP_016870412.1:p.Lys862Glu, XP_047279543.1:p.Lys1090Glu, XP_047279544.1:p.Lys1059Glu, XP_047279545.1:p.Lys1058Glu, XP_047279546.1:p.Lys813Glu

    2.

    rs1490139026 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      ->G [Show Flanks]
      Chromosome:
      9:120439453 (GRCh38)
      9:123201732 (GRCh37)
      Canonical SPDI:
      NC_000009.12:120439453:G:GG
      Gene:
      CDK5RAP2 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,frameshift_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      GG=0.000043/1 (ALFA)
      G=0.000004/1 (GnomAD_exomes)
      G=0.000004/1 (TOPMED)
      HGVS:
      NC_000009.12:g.120439454dup, NC_000009.11:g.123201732dup, NG_008999.1:g.145706dup, NM_018249.6:c.3667dup, NM_018249.5:c.3667dup, NM_001011649.3:c.3667dup, NM_001011649.2:c.3667dup, NR_073556.2:n.4063dup, NR_073556.1:n.4066dup, NR_073557.2:n.3936dup, NR_073557.1:n.3939dup, NR_073558.2:n.3933dup, NR_073558.1:n.3936dup, NR_073554.2:n.3933dup, NR_073554.1:n.3936dup, NR_073555.2:n.3856dup, NR_073555.1:n.3859dup, NM_001272039.2:c.2977dup, NM_001272039.1:c.2977dup, XM_011518860.2:c.3664dup, XM_006717182.2:c.3571dup, XM_017014921.2:c.3568dup, XM_006717185.2:c.2980dup, XM_006717185.1:c.2980dup, XM_017014923.2:c.2980dup, XM_017014923.1:c.2980dup, NM_001410994.1:c.3664dup, NM_001410993.1:c.3571dup, NM_001410992.1:c.3568dup, XM_047423587.1:c.3664dup, XM_047423588.1:c.3571dup, XM_047423589.1:c.3568dup, XM_047423590.1:c.2833dup, NP_060719.4:p.Leu1223fs, NP_001011649.1:p.Leu1223fs, NP_001258968.1:p.Leu993fs, XP_011517162.1:p.Leu1222fs, XP_006717245.1:p.Leu1191fs, XP_016870410.1:p.Leu1190fs, XP_006717248.1:p.Leu994fs, XP_016870412.1:p.Leu994fs, XP_047279543.1:p.Leu1222fs, XP_047279544.1:p.Leu1191fs, XP_047279545.1:p.Leu1190fs, XP_047279546.1:p.Leu945fs

      3.

      rs1489660025 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        9:120408353 (GRCh38)
        9:123170631 (GRCh37)
        Canonical SPDI:
        NC_000009.12:120408352:G:A
        Gene:
        CDK5RAP2 (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_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)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000009.12:g.120408353G>A, NC_000009.11:g.123170631G>A, NG_008999.1:g.176807C>T, NM_018249.6:c.4720C>T, NM_018249.5:c.4720C>T, NM_001011649.3:c.4720C>T, NM_001011649.2:c.4720C>T, NR_073556.2:n.5116C>T, NR_073556.1:n.5119C>T, NR_073557.2:n.4989C>T, NR_073557.1:n.4992C>T, NR_073558.2:n.4986C>T, NR_073558.1:n.4989C>T, NR_073554.2:n.4986C>T, NR_073554.1:n.4989C>T, NR_073555.2:n.4909C>T, NR_073555.1:n.4912C>T, NM_001272039.2:c.4030C>T, NM_001272039.1:c.4030C>T, XM_011518860.2:c.4717C>T, XM_006717182.2:c.4624C>T, XM_017014921.2:c.4621C>T, XM_006717185.2:c.4033C>T, XM_006717185.1:c.4033C>T, XM_017014923.2:c.4033C>T, XM_017014923.1:c.4033C>T, NM_001410994.1:c.4717C>T, NM_001410993.1:c.4624C>T, NM_001410992.1:c.4621C>T, XM_047423587.1:c.4717C>T, XM_047423588.1:c.4624C>T, XM_047423589.1:c.4621C>T, XM_047423590.1:c.3886C>T

        4.

        rs1489425159 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          9:120403028 (GRCh38)
          9:123165306 (GRCh37)
          Canonical SPDI:
          NC_000009.12:120403027:G:A
          Gene:
          CDK5RAP2 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000007/1 (GnomAD)
          HGVS:
          NC_000009.12:g.120403028G>A, NC_000009.11:g.123165306G>A, NG_008999.1:g.182132C>T, NM_018249.6:c.5085C>T, NM_018249.5:c.5085C>T, NM_001011649.3:c.4848C>T, NM_001011649.2:c.4848C>T, NR_073556.2:n.5481C>T, NR_073556.1:n.5484C>T, NR_073557.2:n.5354C>T, NR_073557.1:n.5357C>T, NR_073558.2:n.5351C>T, NR_073558.1:n.5354C>T, NR_073554.2:n.5349C>T, NR_073554.1:n.5352C>T, NR_073555.2:n.5272C>T, NR_073555.1:n.5275C>T, NM_001272039.2:c.4395C>T, NM_001272039.1:c.4395C>T, XM_011518860.2:c.5082C>T, XM_006717182.2:c.4989C>T, XM_017014921.2:c.4986C>T, XM_006717185.2:c.4398C>T, XM_006717185.1:c.4398C>T, XM_017014923.2:c.4161C>T, XM_017014923.1:c.4161C>T, NM_001410994.1:c.5082C>T, NM_001410993.1:c.4989C>T, NM_001410992.1:c.4986C>T, XM_047423587.1:c.4845C>T, XM_047423588.1:c.4752C>T, XM_047423589.1:c.4749C>T, XM_047423590.1:c.4251C>T

          5.

          rs1489316697 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            9:120518564 (GRCh38)
            9:123280842 (GRCh37)
            Canonical SPDI:
            NC_000009.12:120518563:T:C
            Gene:
            CDK5RAP2 (Varview)
            Functional Consequence:
            coding_sequence_variant,non_coding_transcript_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000009.12:g.120518564T>C, NC_000009.11:g.123280842T>C, NG_008999.1:g.66596A>G, NM_018249.6:c.1174A>G, NM_018249.5:c.1174A>G, NM_001011649.3:c.1174A>G, NM_001011649.2:c.1174A>G, NR_073556.2:n.1360A>G, NR_073556.1:n.1363A>G, NR_073557.2:n.1363A>G, NR_073557.1:n.1366A>G, NR_073558.2:n.1360A>G, NR_073558.1:n.1363A>G, NR_073554.2:n.1363A>G, NR_073554.1:n.1366A>G, NR_073555.2:n.1363A>G, NR_073555.1:n.1366A>G, NM_001272039.2:c.1174A>G, NM_001272039.1:c.1174A>G, XM_011518860.2:c.1174A>G, XM_006717182.2:c.1174A>G, XM_017014921.2:c.1174A>G, XM_006717185.2:c.1174A>G, XM_006717185.1:c.1174A>G, XM_017014923.2:c.1174A>G, XM_017014923.1:c.1174A>G, NM_001410994.1:c.1174A>G, NM_001410993.1:c.1174A>G, NM_001410992.1:c.1174A>G, XM_047423587.1:c.1174A>G, XM_047423588.1:c.1174A>G, XM_047423589.1:c.1174A>G, XM_047423590.1:c.340A>G, XM_047423591.1:c.1174A>G, NP_060719.4:p.Thr392Ala, NP_001011649.1:p.Thr392Ala, NP_001258968.1:p.Thr392Ala, XP_011517162.1:p.Thr392Ala, XP_006717245.1:p.Thr392Ala, XP_016870410.1:p.Thr392Ala, XP_006717248.1:p.Thr392Ala, XP_016870412.1:p.Thr392Ala, XP_047279543.1:p.Thr392Ala, XP_047279544.1:p.Thr392Ala, XP_047279545.1:p.Thr392Ala, XP_047279546.1:p.Thr114Ala, XP_047279547.1:p.Thr392Ala

            6.

            rs1487568842 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>C [Show Flanks]
              Chromosome:
              9:120458507 (GRCh38)
              9:123220785 (GRCh37)
              Canonical SPDI:
              NC_000009.12:120458506:A:C
              Gene:
              CDK5RAP2 (Varview)
              Functional Consequence:
              coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
              Validated:
              by frequency,by alfa
              MAF:
              C=0.000071/1 (ALFA)
              C=0.000008/2 (TOPMED)
              HGVS:
              NC_000009.12:g.120458507A>C, NC_000009.11:g.123220785A>C, NG_008999.1:g.126653T>G, NM_018249.6:c.2318T>G, NM_018249.5:c.2318T>G, NM_001011649.3:c.2318T>G, NM_001011649.2:c.2318T>G, NR_073556.2:n.2714T>G, NR_073556.1:n.2717T>G, NR_073557.2:n.2587T>G, NR_073557.1:n.2590T>G, NR_073558.2:n.2584T>G, NR_073558.1:n.2587T>G, NR_073554.2:n.2584T>G, NR_073554.1:n.2587T>G, NR_073555.2:n.2507T>G, NR_073555.1:n.2510T>G, XM_011518860.2:c.2315T>G, XM_006717182.2:c.2222T>G, XM_017014921.2:c.2219T>G, NM_001410994.1:c.2315T>G, NM_001410993.1:c.2222T>G, NM_001410992.1:c.2219T>G, XM_047423587.1:c.2315T>G, XM_047423588.1:c.2222T>G, XM_047423589.1:c.2219T>G, XM_047423590.1:c.1484T>G, XM_047423591.1:c.2318T>G, NP_060719.4:p.Phe773Cys, NP_001011649.1:p.Phe773Cys, XP_011517162.1:p.Phe772Cys, XP_006717245.1:p.Phe741Cys, XP_016870410.1:p.Phe740Cys, XP_047279543.1:p.Phe772Cys, XP_047279544.1:p.Phe741Cys, XP_047279545.1:p.Phe740Cys, XP_047279546.1:p.Phe495Cys, XP_047279547.1:p.Phe773Cys

              7.

              rs1487432200 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                9:120437375 (GRCh38)
                9:123199653 (GRCh37)
                Canonical SPDI:
                NC_000009.12:120437374:T:A,NC_000009.12:120437374:T:C
                Gene:
                CDK5RAP2 (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)
                A=0.000004/1 (GnomAD_exomes)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000009.12:g.120437375T>A, NC_000009.12:g.120437375T>C, NC_000009.11:g.123199653T>A, NC_000009.11:g.123199653T>C, NG_008999.1:g.147785A>T, NG_008999.1:g.147785A>G, NM_018249.6:c.3875A>T, NM_018249.6:c.3875A>G, NM_018249.5:c.3875A>T, NM_018249.5:c.3875A>G, NM_001011649.3:c.3875A>T, NM_001011649.3:c.3875A>G, NM_001011649.2:c.3875A>T, NM_001011649.2:c.3875A>G, NR_073556.2:n.4271A>T, NR_073556.2:n.4271A>G, NR_073556.1:n.4274A>T, NR_073556.1:n.4274A>G, NR_073557.2:n.4144A>T, NR_073557.2:n.4144A>G, NR_073557.1:n.4147A>T, NR_073557.1:n.4147A>G, NR_073558.2:n.4141A>T, NR_073558.2:n.4141A>G, NR_073558.1:n.4144A>T, NR_073558.1:n.4144A>G, NR_073554.2:n.4141A>T, NR_073554.2:n.4141A>G, NR_073554.1:n.4144A>T, NR_073554.1:n.4144A>G, NR_073555.2:n.4064A>T, NR_073555.2:n.4064A>G, NR_073555.1:n.4067A>T, NR_073555.1:n.4067A>G, NM_001272039.2:c.3185A>T, NM_001272039.2:c.3185A>G, NM_001272039.1:c.3185A>T, NM_001272039.1:c.3185A>G, XM_011518860.2:c.3872A>T, XM_011518860.2:c.3872A>G, XM_006717182.2:c.3779A>T, XM_006717182.2:c.3779A>G, XM_017014921.2:c.3776A>T, XM_017014921.2:c.3776A>G, XM_006717185.2:c.3188A>T, XM_006717185.2:c.3188A>G, XM_006717185.1:c.3188A>T, XM_006717185.1:c.3188A>G, XM_017014923.2:c.3188A>T, XM_017014923.2:c.3188A>G, XM_017014923.1:c.3188A>T, XM_017014923.1:c.3188A>G, NM_001410994.1:c.3872A>T, NM_001410994.1:c.3872A>G, NM_001410993.1:c.3779A>T, NM_001410993.1:c.3779A>G, NM_001410992.1:c.3776A>T, NM_001410992.1:c.3776A>G, XM_047423587.1:c.3872A>T, XM_047423587.1:c.3872A>G, XM_047423588.1:c.3779A>T, XM_047423588.1:c.3779A>G, XM_047423589.1:c.3776A>T, XM_047423589.1:c.3776A>G, XM_047423590.1:c.3041A>T, XM_047423590.1:c.3041A>G, NP_060719.4:p.Tyr1292Phe, NP_060719.4:p.Tyr1292Cys, NP_001011649.1:p.Tyr1292Phe, NP_001011649.1:p.Tyr1292Cys, NP_001258968.1:p.Tyr1062Phe, NP_001258968.1:p.Tyr1062Cys, XP_011517162.1:p.Tyr1291Phe, XP_011517162.1:p.Tyr1291Cys, XP_006717245.1:p.Tyr1260Phe, XP_006717245.1:p.Tyr1260Cys, XP_016870410.1:p.Tyr1259Phe, XP_016870410.1:p.Tyr1259Cys, XP_006717248.1:p.Tyr1063Phe, XP_006717248.1:p.Tyr1063Cys, XP_016870412.1:p.Tyr1063Phe, XP_016870412.1:p.Tyr1063Cys, XP_047279543.1:p.Tyr1291Phe, XP_047279543.1:p.Tyr1291Cys, XP_047279544.1:p.Tyr1260Phe, XP_047279544.1:p.Tyr1260Cys, XP_047279545.1:p.Tyr1259Phe, XP_047279545.1:p.Tyr1259Cys, XP_047279546.1:p.Tyr1014Phe, XP_047279546.1:p.Tyr1014Cys

                8.

                rs1487303499 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  9:120530029 (GRCh38)
                  9:123292307 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:120530028:C:T
                  Gene:
                  CDK5RAP2 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000004/1 (GnomAD_exomes)
                  HGVS:

                  9.

                  rs1486242177 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A [Show Flanks]
                    Chromosome:
                    9:120400859 (GRCh38)
                    9:123163137 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:120400858:C:A
                    Gene:
                    CDK5RAP2 (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.120400859C>A, NC_000009.11:g.123163137C>A, NG_008999.1:g.184301G>T, NM_018249.6:c.5334G>T, NM_018249.5:c.5334G>T, NM_001011649.3:c.5097G>T, NM_001011649.2:c.5097G>T, NR_073556.2:n.5730G>T, NR_073556.1:n.5733G>T, NR_073557.2:n.5603G>T, NR_073557.1:n.5606G>T, NR_073558.2:n.5600G>T, NR_073558.1:n.5603G>T, NR_073554.2:n.5598G>T, NR_073554.1:n.5601G>T, NR_073555.2:n.5521G>T, NR_073555.1:n.5524G>T, NM_001272039.2:c.4644G>T, NM_001272039.1:c.4644G>T, XM_011518860.2:c.5331G>T, XM_006717182.2:c.5238G>T, XM_017014921.2:c.5235G>T, XM_006717185.2:c.4647G>T, XM_006717185.1:c.4647G>T, XM_017014923.2:c.4410G>T, XM_017014923.1:c.4410G>T, NM_001410994.1:c.5331G>T, NM_001410993.1:c.5238G>T, NM_001410992.1:c.5235G>T, XM_047423587.1:c.5094G>T, XM_047423588.1:c.5001G>T, XM_047423589.1:c.4998G>T, XM_047423590.1:c.4500G>T, NP_060719.4:p.Lys1778Asn, NP_001011649.1:p.Lys1699Asn, NP_001258968.1:p.Lys1548Asn, XP_011517162.1:p.Lys1777Asn, XP_006717245.1:p.Lys1746Asn, XP_016870410.1:p.Lys1745Asn, XP_006717248.1:p.Lys1549Asn, XP_016870412.1:p.Lys1470Asn, XP_047279543.1:p.Lys1698Asn, XP_047279544.1:p.Lys1667Asn, XP_047279545.1:p.Lys1666Asn, XP_047279546.1:p.Lys1500Asn

                    10.

                    rs1485164070 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      9:120403020 (GRCh38)
                      9:123165298 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:120403019:T:A
                      Gene:
                      CDK5RAP2 (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=0.000008/2 (TOPMED)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      NC_000009.12:g.120403020T>A, NC_000009.11:g.123165298T>A, NG_008999.1:g.182140A>T, NM_018249.6:c.5093A>T, NM_018249.5:c.5093A>T, NM_001011649.3:c.4856A>T, NM_001011649.2:c.4856A>T, NR_073556.2:n.5489A>T, NR_073556.1:n.5492A>T, NR_073557.2:n.5362A>T, NR_073557.1:n.5365A>T, NR_073558.2:n.5359A>T, NR_073558.1:n.5362A>T, NR_073554.2:n.5357A>T, NR_073554.1:n.5360A>T, NR_073555.2:n.5280A>T, NR_073555.1:n.5283A>T, NM_001272039.2:c.4403A>T, NM_001272039.1:c.4403A>T, XM_011518860.2:c.5090A>T, XM_006717182.2:c.4997A>T, XM_017014921.2:c.4994A>T, XM_006717185.2:c.4406A>T, XM_006717185.1:c.4406A>T, XM_017014923.2:c.4169A>T, XM_017014923.1:c.4169A>T, NM_001410994.1:c.5090A>T, NM_001410993.1:c.4997A>T, NM_001410992.1:c.4994A>T, XM_047423587.1:c.4853A>T, XM_047423588.1:c.4760A>T, XM_047423589.1:c.4757A>T, XM_047423590.1:c.4259A>T, NP_060719.4:p.Asp1698Val, NP_001011649.1:p.Asp1619Val, NP_001258968.1:p.Asp1468Val, XP_011517162.1:p.Asp1697Val, XP_006717245.1:p.Asp1666Val, XP_016870410.1:p.Asp1665Val, XP_006717248.1:p.Asp1469Val, XP_016870412.1:p.Asp1390Val, XP_047279543.1:p.Asp1618Val, XP_047279544.1:p.Asp1587Val, XP_047279545.1:p.Asp1586Val, XP_047279546.1:p.Asp1420Val

                      11.

                      rs1484569512 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        9:120402935 (GRCh38)
                        9:123165213 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:120402934:A:G
                        Gene:
                        CDK5RAP2 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000009.12:g.120402935A>G, NC_000009.11:g.123165213A>G, NG_008999.1:g.182225T>C, NM_018249.6:c.5178T>C, NM_018249.5:c.5178T>C, NM_001011649.3:c.4941T>C, NM_001011649.2:c.4941T>C, NR_073556.2:n.5574T>C, NR_073556.1:n.5577T>C, NR_073557.2:n.5447T>C, NR_073557.1:n.5450T>C, NR_073558.2:n.5444T>C, NR_073558.1:n.5447T>C, NR_073554.2:n.5442T>C, NR_073554.1:n.5445T>C, NR_073555.2:n.5365T>C, NR_073555.1:n.5368T>C, NM_001272039.2:c.4488T>C, NM_001272039.1:c.4488T>C, XM_011518860.2:c.5175T>C, XM_006717182.2:c.5082T>C, XM_017014921.2:c.5079T>C, XM_006717185.2:c.4491T>C, XM_006717185.1:c.4491T>C, XM_017014923.2:c.4254T>C, XM_017014923.1:c.4254T>C, NM_001410994.1:c.5175T>C, NM_001410993.1:c.5082T>C, NM_001410992.1:c.5079T>C, XM_047423587.1:c.4938T>C, XM_047423588.1:c.4845T>C, XM_047423589.1:c.4842T>C, XM_047423590.1:c.4344T>C

                        12.

                        rs1483844280 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          9:120437462 (GRCh38)
                          9:123199740 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:120437461:C:T
                          Gene:
                          CDK5RAP2 (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./0 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000009.12:g.120437462C>T, NC_000009.11:g.123199740C>T, NG_008999.1:g.147698G>A, NM_018249.6:c.3788G>A, NM_018249.5:c.3788G>A, NM_001011649.3:c.3788G>A, NM_001011649.2:c.3788G>A, NR_073556.2:n.4184G>A, NR_073556.1:n.4187G>A, NR_073557.2:n.4057G>A, NR_073557.1:n.4060G>A, NR_073558.2:n.4054G>A, NR_073558.1:n.4057G>A, NR_073554.2:n.4054G>A, NR_073554.1:n.4057G>A, NR_073555.2:n.3977G>A, NR_073555.1:n.3980G>A, NM_001272039.2:c.3098G>A, NM_001272039.1:c.3098G>A, XM_011518860.2:c.3785G>A, XM_006717182.2:c.3692G>A, XM_017014921.2:c.3689G>A, XM_006717185.2:c.3101G>A, XM_006717185.1:c.3101G>A, XM_017014923.2:c.3101G>A, XM_017014923.1:c.3101G>A, NM_001410994.1:c.3785G>A, NM_001410993.1:c.3692G>A, NM_001410992.1:c.3689G>A, XM_047423587.1:c.3785G>A, XM_047423588.1:c.3692G>A, XM_047423589.1:c.3689G>A, XM_047423590.1:c.2954G>A, NP_060719.4:p.Gly1263Asp, NP_001011649.1:p.Gly1263Asp, NP_001258968.1:p.Gly1033Asp, XP_011517162.1:p.Gly1262Asp, XP_006717245.1:p.Gly1231Asp, XP_016870410.1:p.Gly1230Asp, XP_006717248.1:p.Gly1034Asp, XP_016870412.1:p.Gly1034Asp, XP_047279543.1:p.Gly1262Asp, XP_047279544.1:p.Gly1231Asp, XP_047279545.1:p.Gly1230Asp, XP_047279546.1:p.Gly985Asp

                          13.

                          rs1483824632 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            9:120453766 (GRCh38)
                            9:123216044 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:120453765:T:C
                            Gene:
                            CDK5RAP2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000028/1 (ALFA)
                            C=0.000004/1 (TOPMED)
                            HGVS:
                            NC_000009.12:g.120453766T>C, NC_000009.11:g.123216044T>C, NG_008999.1:g.131394A>G, NM_018249.6:c.2483A>G, NM_018249.5:c.2483A>G, NM_001011649.3:c.2483A>G, NM_001011649.2:c.2483A>G, NR_073556.2:n.2879A>G, NR_073556.1:n.2882A>G, NR_073557.2:n.2752A>G, NR_073557.1:n.2755A>G, NR_073558.2:n.2749A>G, NR_073558.1:n.2752A>G, NR_073554.2:n.2749A>G, NR_073554.1:n.2752A>G, NR_073555.2:n.2672A>G, NR_073555.1:n.2675A>G, XM_011518860.2:c.2480A>G, XM_006717182.2:c.2387A>G, XM_017014921.2:c.2384A>G, NM_001410994.1:c.2480A>G, NM_001410993.1:c.2387A>G, NM_001410992.1:c.2384A>G, XM_047423587.1:c.2480A>G, XM_047423588.1:c.2387A>G, XM_047423589.1:c.2384A>G, XM_047423590.1:c.1649A>G, NP_060719.4:p.Lys828Arg, NP_001011649.1:p.Lys828Arg, XP_011517162.1:p.Lys827Arg, XP_006717245.1:p.Lys796Arg, XP_016870410.1:p.Lys795Arg, XP_047279543.1:p.Lys827Arg, XP_047279544.1:p.Lys796Arg, XP_047279545.1:p.Lys795Arg, XP_047279546.1:p.Lys550Arg

                            14.

                            rs1483512208 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              9:120448104 (GRCh38)
                              9:123210382 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:120448103:G:C
                              Gene:
                              CDK5RAP2 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              C=0.000047/1 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000009.12:g.120448104G>C, NC_000009.11:g.123210382G>C, NG_008999.1:g.137056C>G, NM_018249.6:c.2816C>G, NM_018249.5:c.2816C>G, NM_001011649.3:c.2816C>G, NM_001011649.2:c.2816C>G, NR_073556.2:n.3212C>G, NR_073556.1:n.3215C>G, NR_073557.2:n.3085C>G, NR_073557.1:n.3088C>G, NR_073558.2:n.3082C>G, NR_073558.1:n.3085C>G, NR_073554.2:n.3082C>G, NR_073554.1:n.3085C>G, NR_073555.2:n.3005C>G, NR_073555.1:n.3008C>G, NM_001272039.2:c.2126C>G, NM_001272039.1:c.2126C>G, XM_011518860.2:c.2813C>G, XM_006717182.2:c.2720C>G, XM_017014921.2:c.2717C>G, XM_006717185.2:c.2129C>G, XM_006717185.1:c.2129C>G, XM_017014923.2:c.2129C>G, XM_017014923.1:c.2129C>G, NM_001410994.1:c.2813C>G, NM_001410993.1:c.2720C>G, NM_001410992.1:c.2717C>G, XM_047423587.1:c.2813C>G, XM_047423588.1:c.2720C>G, XM_047423589.1:c.2717C>G, XM_047423590.1:c.1982C>G, XM_047423591.1:c.2398C>G, NP_060719.4:p.Pro939Arg, NP_001011649.1:p.Pro939Arg, NP_001258968.1:p.Pro709Arg, XP_011517162.1:p.Pro938Arg, XP_006717245.1:p.Pro907Arg, XP_016870410.1:p.Pro906Arg, XP_006717248.1:p.Pro710Arg, XP_016870412.1:p.Pro710Arg, XP_047279543.1:p.Pro938Arg, XP_047279544.1:p.Pro907Arg, XP_047279545.1:p.Pro906Arg, XP_047279546.1:p.Pro661Arg, XP_047279547.1:p.Gln800Glu

                              15.

                              rs1482992913 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                9:120437455 (GRCh38)
                                9:123199733 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:120437454:G:A
                                Gene:
                                CDK5RAP2 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency
                                MAF:
                                A=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.120437455G>A, NC_000009.11:g.123199733G>A, NG_008999.1:g.147705C>T, NM_018249.6:c.3795C>T, NM_018249.5:c.3795C>T, NM_001011649.3:c.3795C>T, NM_001011649.2:c.3795C>T, NR_073556.2:n.4191C>T, NR_073556.1:n.4194C>T, NR_073557.2:n.4064C>T, NR_073557.1:n.4067C>T, NR_073558.2:n.4061C>T, NR_073558.1:n.4064C>T, NR_073554.2:n.4061C>T, NR_073554.1:n.4064C>T, NR_073555.2:n.3984C>T, NR_073555.1:n.3987C>T, NM_001272039.2:c.3105C>T, NM_001272039.1:c.3105C>T, XM_011518860.2:c.3792C>T, XM_006717182.2:c.3699C>T, XM_017014921.2:c.3696C>T, XM_006717185.2:c.3108C>T, XM_006717185.1:c.3108C>T, XM_017014923.2:c.3108C>T, XM_017014923.1:c.3108C>T, NM_001410994.1:c.3792C>T, NM_001410993.1:c.3699C>T, NM_001410992.1:c.3696C>T, XM_047423587.1:c.3792C>T, XM_047423588.1:c.3699C>T, XM_047423589.1:c.3696C>T, XM_047423590.1:c.2961C>T

                                16.

                                rs1482063850 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  9:120394621 (GRCh38)
                                  9:123156899 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:120394620:T:G
                                  Gene:
                                  CDK5RAP2 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0.0002/1 (ALFA)
                                  G=0.0002/1 (Estonian)
                                  HGVS:
                                  NC_000009.12:g.120394621T>G, NC_000009.11:g.123156899T>G, NG_008999.1:g.190539A>C, NM_018249.6:c.5469A>C, NM_018249.5:c.5469A>C, NM_001011649.3:c.5232A>C, NM_001011649.2:c.5232A>C, NR_073556.2:n.5865A>C, NR_073556.1:n.5868A>C, NR_073557.2:n.5738A>C, NR_073557.1:n.5741A>C, NR_073558.2:n.5735A>C, NR_073558.1:n.5738A>C, NR_073554.2:n.5733A>C, NR_073554.1:n.5736A>C, NR_073555.2:n.5656A>C, NR_073555.1:n.5659A>C, NM_001272039.2:c.4779A>C, NM_001272039.1:c.4779A>C, XM_011518860.2:c.5466A>C, XM_006717182.2:c.5373A>C, XM_017014921.2:c.5370A>C, XM_006717185.2:c.4782A>C, XM_006717185.1:c.4782A>C, XM_017014923.2:c.4545A>C, XM_017014923.1:c.4545A>C, NM_001410994.1:c.5466A>C, NM_001410993.1:c.5373A>C, NM_001410992.1:c.5370A>C, XM_047423587.1:c.5229A>C, XM_047423588.1:c.5136A>C, XM_047423589.1:c.5133A>C, XM_047423590.1:c.4635A>C

                                  17.

                                  rs1481877993 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A,C [Show Flanks]
                                    Chromosome:
                                    9:120453666 (GRCh38)
                                    9:123215944 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:120453665:G:A,NC_000009.12:120453665:G:C
                                    Gene:
                                    CDK5RAP2 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    A=0.000007/1 (GnomAD)
                                    A=0.000008/2 (GnomAD_exomes)
                                    HGVS:
                                    NC_000009.12:g.120453666G>A, NC_000009.12:g.120453666G>C, NC_000009.11:g.123215944G>A, NC_000009.11:g.123215944G>C, NG_008999.1:g.131494C>T, NG_008999.1:g.131494C>G, NM_018249.6:c.2583C>T, NM_018249.6:c.2583C>G, NM_018249.5:c.2583C>T, NM_018249.5:c.2583C>G, NM_001011649.3:c.2583C>T, NM_001011649.3:c.2583C>G, NM_001011649.2:c.2583C>T, NM_001011649.2:c.2583C>G, NR_073556.2:n.2979C>T, NR_073556.2:n.2979C>G, NR_073556.1:n.2982C>T, NR_073556.1:n.2982C>G, NR_073557.2:n.2852C>T, NR_073557.2:n.2852C>G, NR_073557.1:n.2855C>T, NR_073557.1:n.2855C>G, NR_073558.2:n.2849C>T, NR_073558.2:n.2849C>G, NR_073558.1:n.2852C>T, NR_073558.1:n.2852C>G, NR_073554.2:n.2849C>T, NR_073554.2:n.2849C>G, NR_073554.1:n.2852C>T, NR_073554.1:n.2852C>G, NR_073555.2:n.2772C>T, NR_073555.2:n.2772C>G, NR_073555.1:n.2775C>T, NR_073555.1:n.2775C>G, XM_011518860.2:c.2580C>T, XM_011518860.2:c.2580C>G, XM_006717182.2:c.2487C>T, XM_006717182.2:c.2487C>G, XM_017014921.2:c.2484C>T, XM_017014921.2:c.2484C>G, NM_001410994.1:c.2580C>T, NM_001410994.1:c.2580C>G, NM_001410993.1:c.2487C>T, NM_001410993.1:c.2487C>G, NM_001410992.1:c.2484C>T, NM_001410992.1:c.2484C>G, XM_047423587.1:c.2580C>T, XM_047423587.1:c.2580C>G, XM_047423588.1:c.2487C>T, XM_047423588.1:c.2487C>G, XM_047423589.1:c.2484C>T, XM_047423589.1:c.2484C>G, XM_047423590.1:c.1749C>T, XM_047423590.1:c.1749C>G

                                    18.

                                    rs1481011060 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C [Show Flanks]
                                      Chromosome:
                                      9:120447972 (GRCh38)
                                      9:123210250 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:120447971:T:C
                                      Gene:
                                      CDK5RAP2 (Varview)
                                      Functional Consequence:
                                      missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      C=0.000071/1 (ALFA)
                                      C=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000009.12:g.120447972T>C, NC_000009.11:g.123210250T>C, NG_008999.1:g.137188A>G, NM_018249.6:c.2948A>G, NM_018249.5:c.2948A>G, NM_001011649.3:c.2948A>G, NM_001011649.2:c.2948A>G, NR_073556.2:n.3344A>G, NR_073556.1:n.3347A>G, NR_073557.2:n.3217A>G, NR_073557.1:n.3220A>G, NR_073558.2:n.3214A>G, NR_073558.1:n.3217A>G, NR_073554.2:n.3214A>G, NR_073554.1:n.3217A>G, NR_073555.2:n.3137A>G, NR_073555.1:n.3140A>G, NM_001272039.2:c.2258A>G, NM_001272039.1:c.2258A>G, XM_011518860.2:c.2945A>G, XM_006717182.2:c.2852A>G, XM_017014921.2:c.2849A>G, XM_006717185.2:c.2261A>G, XM_006717185.1:c.2261A>G, XM_017014923.2:c.2261A>G, XM_017014923.1:c.2261A>G, NM_001410994.1:c.2945A>G, NM_001410993.1:c.2852A>G, NM_001410992.1:c.2849A>G, XM_047423587.1:c.2945A>G, XM_047423588.1:c.2852A>G, XM_047423589.1:c.2849A>G, XM_047423590.1:c.2114A>G, NP_060719.4:p.Lys983Arg, NP_001011649.1:p.Lys983Arg, NP_001258968.1:p.Lys753Arg, XP_011517162.1:p.Lys982Arg, XP_006717245.1:p.Lys951Arg, XP_016870410.1:p.Lys950Arg, XP_006717248.1:p.Lys754Arg, XP_016870412.1:p.Lys754Arg, XP_047279543.1:p.Lys982Arg, XP_047279544.1:p.Lys951Arg, XP_047279545.1:p.Lys950Arg, XP_047279546.1:p.Lys705Arg

                                      19.

                                      rs1479555763 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C [Show Flanks]
                                        Chromosome:
                                        9:120402920 (GRCh38)
                                        9:123165198 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:120402919:A:C
                                        Gene:
                                        CDK5RAP2 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000009.12:g.120402920A>C, NC_000009.11:g.123165198A>C, NG_008999.1:g.182240T>G, NM_018249.6:c.5193T>G, NM_018249.5:c.5193T>G, NM_001011649.3:c.4956T>G, NM_001011649.2:c.4956T>G, NR_073556.2:n.5589T>G, NR_073556.1:n.5592T>G, NR_073557.2:n.5462T>G, NR_073557.1:n.5465T>G, NR_073558.2:n.5459T>G, NR_073558.1:n.5462T>G, NR_073554.2:n.5457T>G, NR_073554.1:n.5460T>G, NR_073555.2:n.5380T>G, NR_073555.1:n.5383T>G, NM_001272039.2:c.4503T>G, NM_001272039.1:c.4503T>G, XM_011518860.2:c.5190T>G, XM_006717182.2:c.5097T>G, XM_017014921.2:c.5094T>G, XM_006717185.2:c.4506T>G, XM_006717185.1:c.4506T>G, XM_017014923.2:c.4269T>G, XM_017014923.1:c.4269T>G, NM_001410994.1:c.5190T>G, NM_001410993.1:c.5097T>G, NM_001410992.1:c.5094T>G, XM_047423587.1:c.4953T>G, XM_047423588.1:c.4860T>G, XM_047423589.1:c.4857T>G, XM_047423590.1:c.4359T>G, NP_060719.4:p.Ile1731Met, NP_001011649.1:p.Ile1652Met, NP_001258968.1:p.Ile1501Met, XP_011517162.1:p.Ile1730Met, XP_006717245.1:p.Ile1699Met, XP_016870410.1:p.Ile1698Met, XP_006717248.1:p.Ile1502Met, XP_016870412.1:p.Ile1423Met, XP_047279543.1:p.Ile1651Met, XP_047279544.1:p.Ile1620Met, XP_047279545.1:p.Ile1619Met, XP_047279546.1:p.Ile1453Met

                                        20.

                                        rs1478675602 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          9:120453751 (GRCh38)
                                          9:123216029 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:120453750:A:G
                                          Gene:
                                          CDK5RAP2 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000009.12:g.120453751A>G, NC_000009.11:g.123216029A>G, NG_008999.1:g.131409T>C, NM_018249.6:c.2498T>C, NM_018249.5:c.2498T>C, NM_001011649.3:c.2498T>C, NM_001011649.2:c.2498T>C, NR_073556.2:n.2894T>C, NR_073556.1:n.2897T>C, NR_073557.2:n.2767T>C, NR_073557.1:n.2770T>C, NR_073558.2:n.2764T>C, NR_073558.1:n.2767T>C, NR_073554.2:n.2764T>C, NR_073554.1:n.2767T>C, NR_073555.2:n.2687T>C, NR_073555.1:n.2690T>C, XM_011518860.2:c.2495T>C, XM_006717182.2:c.2402T>C, XM_017014921.2:c.2399T>C, NM_001410994.1:c.2495T>C, NM_001410993.1:c.2402T>C, NM_001410992.1:c.2399T>C, XM_047423587.1:c.2495T>C, XM_047423588.1:c.2402T>C, XM_047423589.1:c.2399T>C, XM_047423590.1:c.1664T>C, NP_060719.4:p.Leu833Pro, NP_001011649.1:p.Leu833Pro, XP_011517162.1:p.Leu832Pro, XP_006717245.1:p.Leu801Pro, XP_016870410.1:p.Leu800Pro, XP_047279543.1:p.Leu832Pro, XP_047279544.1:p.Leu801Pro, XP_047279545.1:p.Leu800Pro, XP_047279546.1:p.Leu555Pro

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